commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Rare diseases and classifications/Linearisation of disorders/en_product7.xml b/Rare diseases and classifications/Linearisation of disorders/en_product7.xml index 235cc21..df1bd6e 100755 --- a/Rare diseases and classifications/Linearisation of disorders/en_product7.xml +++ b/Rare diseases and classifications/Linearisation of disorders/en_product7.xml @@ -1,263560 +1,266671 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 166024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 - Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 58 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 - Alexander disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 - Multiple epiphyseal dysplasia-miniepiphyses syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 - Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 166038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 - Metaphyseal chondrodysplasia, Kaitila type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 - Pontocerebellar hypoplasia type 4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 166078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 - Von Willebrand disease type 1 - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 - Von Willebrand disease type 2A - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081 - Von Willebrand disease type 2 - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 - Von Willebrand disease type 2M - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 - Von Willebrand disease type 2B - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 - Von Willebrand disease type 2N - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 - Von Willebrand disease type 3 - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 - FASTKD2-related infantile mitochondrial encephalomyopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 - Paroxysmal nocturnal hemoglobinuria - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 166108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 - Birk-Barel syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 166113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113 - Bazex syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535 - Rare cutaneous lupus erythematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 166119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 - Isolated osteopoikilosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 - Dentinogenesis imperfecta type 2 - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 166265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 - Dentinogenesis imperfecta type 3 - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 - Odontochondrodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 - Hereditary sick sinus syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 - Porokeratotic eccrine ostial and dermal duct nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 - Mucolipidosis type III - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166291 - Dirofilariasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 166308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308 - Benign infantile focal epilepsy with midline spikes and waves during sleep - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912 - Poliomyelitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409 - Photosensitive occipital lobe epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801 - Scleroderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 166311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166311 - Benign partial infantile seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 - Recessive X-linked ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 166421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421 - Orgasm-induced seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418 - Eating reflex epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166415 - Audiogenic seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412 - Hot water reflex epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433 - Epilepsy with reading-induced seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166430 - Micturation-induced seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 166427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166427 - Startle epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424 - Thinking seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466 - Neurocutaneous syndrome with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 - Beta-thalassemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 166469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166469 - Chromosomal anomaly with epilepsy as a major feature - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 - Alpha-thalassemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 - Cystic fibrosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 166463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166463 - Epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478 - Cerebral malformation with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 - Duchenne and Becker muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166481 - Metabolic diseases with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166472 - Monogenic disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166475 - Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 - Emery-Dreifuss muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166490 - Infectious disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166484 - Inflammatory and autoimmune disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 166487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166487 - Cerebral diseases of vascular origin with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 - Facioscapulohumeral dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593 - Myofibrillar myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 - Central core disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607 - Nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 - Paramyotonia congenita of Von Eulenburg - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931 - Acrodermatitis continua of Hallopeau - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927 - Pustulosis palmaris et plantaris - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163934 - Atopic keratoconjunctivitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 - Thomsen and Becker disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921 - Posttransplant acute limbic encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 163971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 - X-linked intellectual disability, Cilliers type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 - X-linked intellectual disability, Van Esch type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 - X-linked intellectual disability-craniofacioskeletal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 - X-linked intellectual disability, Nascimento type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 - X-linked cerebral-cerebellar-coloboma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 164004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004 - Middle and/or inner ear anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 164726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726 - Acute myeloid leukemia and myelodysplastic syndromes related to radiation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 163985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 - Hyperekplexia-epilepsy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 - Rett syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 164001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164001 - Rare odontal or periodontal disorder - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 72 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 - Angelman syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 165661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165661 - Genetic pancreatic disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 - Juvenile myoclonic epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 165658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165658 - Genetic gastro-esophageal disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 165655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165655 - Genetic intestinal disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 165652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165652 - Rare genetic gastroenterological disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 1941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 - Juvenile absence epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 164823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823 - Rare acquired aplastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 - Autosomal recessive polycystic kidney disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 164736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 - Familial advanced sleep-phase syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 - Amyotrophic lateral sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 165711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165711 - Rare abdominal surgical disease - - - - - 1160 - Chylous ascites - - - Preferential parent - - - - - - 49041 - IgG4-related retroperitoneal fibrosis - - - Preferential parent - - - - - - 238593 - IgG4-related mesenteritis - - - Preferential parent - - - - - - 293208 - Celiac artery compression syndrome - - - Preferential parent - - - - - - 438274 - GCGR-related hyperglucagonemia - - - Preferential parent - - - - - - 449400 - IgG4-related aortitis - - - Preferential parent - - - - - - 696175 - Encapsulating peritoneal sclerosis - - - Preferential parent - - - - - - 165707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707 - Syndromic urogenital tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 165704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704 - Non-syndromic urogenital tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 - Familial adenomatous polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 - Huntington disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 165955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165955 - Wound myiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 - Lafora disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 165958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165958 - Cavitary myiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 166016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 - Multiple epiphyseal dysplasia, Lowry type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 - Sickle cell anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536 - Systemic lupus erythematosus - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 166002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 - Multiple epiphyseal dysplasia due to collagen 9 anomaly - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 165988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 - Diazoxide-resistant diffuse hyperinsulinism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790 - Retinoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 165985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 - Diazoxide-sensitive diffuse hyperinsulinism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3099 - Rheumatic fever - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 47 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47 - X-linked agammaglobulinemia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 163209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 - Non-syndromic cerebral malformation due to abnormal neuronal migration - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 - X-linked retinoschisis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 163525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525 - Subacute cutaneous lupus erythematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 - Stargardt disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 163582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163582 - Rare bacterial infectious disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 163531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163531 - Chronic cutaneous lupus erythematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 - Wiskott-Aldrich syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 162516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 - Isolated congenital nasal pyriform aperture stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 15 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 - Achondroplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 162526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526 - Isolated congenital auditory ossicle malformation - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 - Dentatorubral pallidoluysian atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631 - Non-acquired isolated growth hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276 - T-B+ severe combined immunodeficiency due to gamma chain deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 163654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 - Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 - Kennedy disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 - Ornithine transcarbamylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 163668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 - Spondyloepiphyseal dysplasia, MacDermot type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 163662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 - Spondyloepiphyseal dysplasia, Reardon type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 163665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 - Spondyloepiphyseal dysplasia tarda, Kohn type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 - Donohue syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 163591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163591 - Rare mycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 - Hypophosphatasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 163596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 - Hb Bart's hydrops fetalis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 163585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163585 - Rare viral disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 - Hypochondroplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 163588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163588 - Rare parasitic disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 - Hypophosphatemic rickets - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 163637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163637 - Rare disorder related with pregnancy, childbirth and puerperium - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 - Leber hereditary optic neuropathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 163631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 - Bile acid synthesis defect with cholestasis and malabsorption - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 - Hydrocephalus with stenosis of the aqueduct of Sylvius - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 163717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 - Familial mesial temporal lobe epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708 - Cryptogenic late-onset epileptic spasms - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703 - Febrile infection-related epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 - Norrie disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 - Rolandic epilepsy-speech dyspraxia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 - Leukoencephalopathy-dystonia-motor neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 - CNTNAP2-related developmental and epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 - Chronic granulomatous disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 16 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 - Blue cone monochromatism - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 163699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163699 - Alveolar soft tissue sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 - Full NF2-related schwannomatosis - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 163696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 - Action myoclonus-renal failure syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 - X-linked hypohidrotic ectodermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 - 2p21 microdeletion syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 163690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 - Hypotonia-cystinuria syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 - Gorlin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 - Cystinuria - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 - Li-Fraumeni syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 - Hereditary neuropathy with liability to pressure palsies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 - Waardenburg syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 - Hyperkalemic periodic paralysis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 - Diastrophic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673 - Malaria - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 - Blepharophimosis-ptosis-epicanthus inversus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 - Pfeiffer syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 53 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 - Albers-Schönberg osteopetrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 - Crouzon syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 - Crigler-Najjar syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 160148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148 - Cap polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 - X-linked lymphoproliferative disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 - Mild hemophilia A - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 169826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826 - Congenital vitamin K-dependent coagulation factors deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 169802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 - Severe hemophilia A - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 169805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 - Moderate hemophilia A - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 - McCune-Albright syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 - Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 - Jeune syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 - Familial hemophagocytic lymphohistiocytosis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 - Laminin subunit alpha 2-related congenital muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1247 - Schistosomiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112 - Bartter syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 169443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169443 - Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 1646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 - Chromosome Y microdeletion syndrome - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 169464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 - Primary CD59 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 - Autosomal dominant cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 - Familial paroxysmal ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 169467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467 - Recurrent Neisseria infections due to factor D deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 - Lamellar ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 169799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 - Mild hemophilia B - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 169796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 - Moderate hemophilia B - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 169793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 - Severe hemophilia B - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 171220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220 - Isolated rectal duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 - Ocular albinism with late-onset sensorineural deafness - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999 - Ermine phenotype - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 - Severe congenital nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 - Childhood-onset nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 55 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 - Oculocutaneous albinism - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 171442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 - Adult-onset nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 - Muscle filaminopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 - X-linked spastic paraplegia type 34 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 - Bruck syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 171612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 - Autosomal dominant spastic paraplegia type 37 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 - Autosomal dominant spastic paraplegia type 38 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 171622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 - Autosomal recessive spastic paraplegia type 32 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 - Autosomal recessive spastic paraplegia type 35 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 - Progressive myoclonic epilepsy type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991 - Cleft lip with or without cleft palate - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 - Idiopathic achalasia - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 - Albinism-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727 - 22q11.2 duplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 169079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 - Cernunnos-XLF deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 1716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716 - Distal duplication 18q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715 - Trisomy 18p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 - CLAPO syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999 - Malignant melanoma of the mucosa - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 169110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169110 - Immunoglobulin heavy chain deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 - Immunodeficiency due to CD25 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105 - Good syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090 - Combined immunodeficiency due to CRAC channel dysfunction - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 - Trisomy 9p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 169095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 - Severe combined immunodeficiency due to FOXN1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 - Combined immunodeficiency due to CD3gamma deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 - Susceptibility to respiratory infections associated with CD8alpha chain mutation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 168829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829 - Primary peritoneal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 168816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816 - Peritoneal inclusion cyst - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 168811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811 - Malignant peritoneal mesothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 168807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168807 - Primary malignant peritoneal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 168803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168803 - Primary peritoneal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 - Darier disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782 - Childhood disintegrative disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 - Distal deletion 9p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966 - Composite lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 168960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960 - Refractory anemia with excess blasts in transformation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 8 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8 - 47,XYY syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636 - Distal monosomy 7q36 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 - Hypereosinophilic syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 168953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953 - Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 168950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950 - Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 - Monosomy 18q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947 - Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 168943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943 - Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 - Monosomy 18p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 - Chronic eosinophilic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 169361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361 - Immune dysregulation disease with immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 - Large/giant congenital melanocytic nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 11 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11 - Pentasomy X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 169154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 - T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 - Glycogen storage disease due to phosphorylase kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 169150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 - Immunodeficiency due to a late component of complement deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160 - T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 - Neurodegeneration with brain iron accumulation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 169157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 - T-B+ severe combined immunodeficiency due to CD45 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139 - Transient hypogammaglobulinemia of infancy - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 169147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147 - Immunodeficiency due to a classical component pathway complement deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 - Recurrent infections due to specific granule deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 - Galactosemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 169349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169349 - Immuno-osseous dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 169346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169346 - DNA repair defect other than combined T-cell and B-cell immunodeficiencies - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 169355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355 - Immunodeficiency syndrome with autoimmunity - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 - Bethlem muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 169186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 - Autosomal recessive centronuclear myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307 - Tetrasomy 18p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 169163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163 - Familial scaphocephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 169189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 - Autosomal dominant centronuclear myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 56 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 - Alkaptonuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 - Acromegaly - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 - Blue rubber bleb nevus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 - Alopecia antibody deficiency - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 - Lethal hemolytic anemia-genital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 30 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 - Hereditary orotic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 - Nail-patella syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 33 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 - Isovaleric acidemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 168194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168194 - Rare cardiac tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 9 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 - Tetrasomy X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615 - Hereditary persistence of alpha-fetoprotein - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 168612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612 - Congenital deficiency in alpha-fetoprotein - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 1442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442 - Ring chromosome 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621 - Dysplasia of head of femur, Meyer type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 - Cleidocranial dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 168629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 - Autosomal thrombocytopenia with normal platelets - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 168624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 - Familial scaphocephaly syndrome, McGillivray type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168778 - Rare pervasive developmental disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 - Cooper-Jabs syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200 - Isolated corpus callosum agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 - Generalized basaloid follicular hamartoma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 - Chronic mucocutaneous candidiasis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 168583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 - Hereditary North American Indian childhood cirrhosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 168577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 - Hereditary cryohydrocytosis with reduced stomatin - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 168593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 - Sudden infant death-dysgenesis of the testes syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 - Charlie M syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 - Hyperandrogenism due to cortisone reductase deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 168601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 - Congenital enteropathy due to enteropeptidase deficiency - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 1414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 - Cholestasis-lymphedema syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 - Methionine adenosyltransferase I/III deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 168606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 - Seborrhea-like dermatitis with psoriasiform elements - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 168549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 - Axial spondylometaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 168552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 - Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154 - Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 - Spondylometaphyseal dysplasia, A4 type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 168558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 168566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 - Caffey disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 168569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 - H syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 168572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 - Native American myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 - Bloom syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 - Argininemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 168443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 - Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 - Aniridia-cerebellar ataxia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 - Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 168454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 - Spondyloepimetaphyseal dysplasia, Geneviève type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 - Distal arthrogryposis type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 - Neurogenic arthrogryposis multiplex congenita - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 168544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 - Spondylometaphyseal dysplasia, Golden type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 - Sheldon-Hall syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 - XY type gonadal dysgenesis-associated anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 167762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167762 - Rare disease with dentinogenesis imperfecta - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 1672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1672 - Diencephalic syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 167759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167759 - Hereditary dentin defect - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 167714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714 - Unclassified acute myeloid leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 167635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635 - Scleromyxedema - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 - Pyruvate dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 - Isolated glycerol kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 - Multiple carboxylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 - Carbamoyl-phosphate synthetase 1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 23 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 - Argininosuccinic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 45 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 - Adenosine monophosphate deaminase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 166775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166775 - Rare hemorrhagic disorder due to an acquired coagulation factor defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 - Dihydropteridine reductase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 - Isolated Dandy-Walker malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 - Cutis marmorata telangiectatica congenita - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 - Neonatal severe primary hyperparathyroidism - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 - Hypoplastic left heart syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 - Neonatal hemochromatosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 2135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 - Cutaneous mastocytosis-deafness-microtia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 - Congenital diaphragmatic hernia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185 - Congenital hydrocephalus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 - Hawkinsinuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 167848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167848 - Rare cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 - Congenital fiber-type disproportion myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 - Freeman-Sheldon syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 - Frontal encephalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 - Fetal parvovirus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 - Ebstein malformation of the tricuspid valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 - Dopa-responsive dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 - Fetal alcohol syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 - Isolated ectopia lentis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 - Multicystic dysplastic kidney - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660 - Omphalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180312 - Rare vulvovaginal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635 - Neuroblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 - Linear nevus sebaceus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 - Metatropic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 - Thanatophoric dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 180303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180303 - Rare non-malformative uterine adnexal disease - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 - Pendred syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 180779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180779 - Syndromic diaphragmatic or thoracic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180776 - Non-syndromic diaphragmatic or thoracic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 - Juvenile Paget disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Pallister-Killian syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180772 - Rare disease with autism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 180766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766 - Malformative syndrome with dentinogenesis imperfecta - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 - Osteopetrosis with renal tubular acidosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 - Horizontal gaze palsy with progressive scoliosis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 2746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 - Opsismodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 - Peroxisomal acyl-CoA oxidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 - Prune belly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 - Familial spontaneous pneumothorax - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901 - Neuralgic amyotrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 - Isolated Pierre Robin sequence - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180821 - Rare gastroesophageal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 180824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180824 - Rare tumor of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 181387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 - Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290 - Congenital rubella syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 181390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 - Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181381 - Other rare diabetes mellitus - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181384 - Rare hypothalamic or pituitary disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181371 - Rare diabetes mellitus type 1 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 181376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181376 - Rare diabetes mellitus type 2 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 - Difference of sex development-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982 - 46,XX difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 181368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181368 - Rare insulin-resistance syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 180202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180202 - Rare non-malformative breast disease - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 2301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 - Congenital short bowel syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180199 - Rare non-malformative gynecologic or obstetric disease - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 180208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180208 - Anomaly of puberty or/and menstrual cycle - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180205 - Rare non-malformative uterovaginal or vulvovaginal disease - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 - Foveal hypoplasia-presenile cataract syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 180188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180188 - Isolated congenital breast hypoplasia/aplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180182 - Supernumerary breasts - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180193 - Syndromic breast hypoplasia/aplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300 - Isolated multiple intestinal atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226 - Embryonal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229 - Polyembryoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 - Larsen-like osseous dysplasia-short stature syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180220 - Rare uterine adnexal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180247 - Vaginal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 180250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180250 - Rare breast tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430 - Congenital macroglossia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180253 - Rare benign breast tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 - Congenital pulmonary lymphangiectasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 - Congenital laryngomalacia - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 180234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234 - Mixed germ cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 180237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180237 - Benign tumor of fallopian tubes - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 - Isolated congenital laryngeal web - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 180242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242 - Malignant tumor of fallopian tubes - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 - MASA syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275 - Paget disease of the nipple - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 - Short rib-polydactyly syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 180257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180257 - Rare malignant breast tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 180261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261 - Phyllodes tumor of the breast - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 180267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180267 - Giant adenofibroma of the breast - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 - Congenital pulmonary airway malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 - Potassium-aggravated myotonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 179494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 - Obesity due to leptin receptor gene deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 - Phenylketonuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 179490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490 - Obesity due to congenital leptin resistance - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 180071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071 - Unilateral aplasia of the Müllerian ducts - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068 - Partial bilateral aplasia of the Müllerian ducts - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065 - Non-syndromic uterovaginal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 180062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180062 - Uterovaginal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106 - Bicervical bicornuate uterus and blind hemivagina - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086 - Didelphys uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079 - Pseudounicornuate uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074 - True unicornuate uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 - Septate uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114 - Unicervical bicornuate uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111 - Bicervical bicornuate uterus with patent cervix and vagina - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134 - Bicornuate uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139 - Uterine hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 - Complete septate uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 - Partial septate uterus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180148 - Syndromic uterovaginal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 - Early-onset autosomal dominant Alzheimer disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 180151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 - Rare vaginal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 63 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 - Alport syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 54 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 - X-linked recessive ocular albinism - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 180142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 - Absence of uterine body - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 - Uterine cervical aplasia and agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 - Transverse vaginal septum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 - Familial isolated dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 180163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180163 - Rare breast malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 - Septate vagina - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 70 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70 - Proximal spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 69 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69 - Amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 180157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 - Longitudinal vaginal septum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180173 - Deficient breast volume or number - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180176 - Familial juvenile hypertrophy of the breast - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 - Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 180170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180170 - Excess breast volume or number - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 178551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 - Aggressive primary cutaneous T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 - Indolent primary cutaneous T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 - Free sialic acid storage disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 178557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 - Indolent primary cutaneous B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 - Aggressive primary cutaneous B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 - Schizencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 178563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563 - Primary cutaneous B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 - Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 178566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 - Mycosis fungoides and variants - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 - Sirenomelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 - Infantile spasms-broad thumbs syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 - Stormorken-Sjaastad-Langslet syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 - Thrombocytopenia-absent radius syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 178996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178996 - Acquired neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 - Tracheal agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 179006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179006 - Primary immunodeficiency due to a defect in adaptive immunity - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858 - Congenital toxoplasmosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291 - Congenital varicella syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 178478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478 - Infant botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 178481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481 - Intestinal botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 178469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 - Autosomal dominant non-syndromic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475 - Wound botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 178461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 - X-linked myopathy with postural muscle atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 - Hereditary myopathy with early respiratory failure - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 - Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 178400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 - Distal myopathy with anterior tibial onset - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382 - Congenital vertical talus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 178389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 - Osteopetrosis-hypogammaglobulinemia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 62 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 - Syndromic microphthalmia type 5 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 178377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 - Osteosclerosis-developmental delay-craniosynostosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 - Fructose-1,6-bisphosphatase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 178345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 - Aromatase excess syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 178355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 - Smith-McCort dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 178338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 - UV-sensitive syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 178342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178342 - Inflammatory myofibroblastic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 - Primary cutaneous diffuse large B-cell lymphoma, leg type - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 - Primary cutaneous follicle center lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 - Behçet disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732 - Polymyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 178536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 - Primary cutaneous marginal zone B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 - Primary cutaneous gamma/delta-positive T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221 - Dermatomyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 - Multiminicore myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 - Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204 - Sporadic Creutzfeldt-Jakob disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522 - Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 - Localized pagetoid reticulosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 - Folliculotropic mycosis fungoides - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 - Perry syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 - Brain calcification, Rajab type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611 - Inclusion body myositis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487 - Adult intestinal botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 177926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 - Bleeding disorder in hemophilia A carriers - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 177929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 - Bleeding disorder in hemophilia B carriers - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 178025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025 - Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 - Hereditary spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 - Osteogenesis imperfecta - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 178029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029 - Arginine vasopressin deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 - Malignant hyperthermia of anesthesia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 - Congenital adrenal hyperplasia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 - Glycogen storage disease due to glucose-6-phosphatase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 177101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177101 - Rare adult hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355 - Gaucher disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 - Hirschsprung disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 177107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107 - Syndromic hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448 - Hemophilia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304 - Epidermolysis bullosa simplex - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 174590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 - Congenital hypogonadotropic hypogonadism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 - GM1 gangliosidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 178320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178320 - Acute lung injury - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 178315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178315 - Undifferentiated embryonal sarcoma of the liver - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 178333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 - Åland Islands eye disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 - Purine nucleoside phosphorylase deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 - Oculopharyngeal muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303 - 8q22.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 - Primary ciliary dyskinesia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 178148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 - Antenatal multiminicore disease with arthrogryposis multiplex congenita - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 178311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178311 - Isolated sternocostoclavicular hyperostosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 178307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 - Reticulate acropigmentation of Kitamura - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589 - Myasthenia gravis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 - Usher syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 178145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 - Moderate multiminicore disease with hand involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 - Waardenburg syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 178040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178040 - Rare peripheral precocious puberty - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 - Pelizaeus-Merzbacher disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 - Porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 - Congenital long QT syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 178045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178045 - Transient congenital hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 - Retinitis pigmentosa - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375 - Anti-glomerular basement membrane disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 - Eosinophilic granulomatosis with polyangiitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1164 - Allergic bronchopulmonary aspergillosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406 - Locked-in syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=509 - Leptospirosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761 - Immunoglobulin A vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 - Alternating hemiplegia of childhood - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 - Primary cutaneous T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 171915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915 - B-cell non-Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 57 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 - Glycogen storage disease due to aldolase A deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 171895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895 - Myeloid hemopathy - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 171898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898 - Lymphoid hemopathy - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249 - Fibrous dysplasia of bone - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 172976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172976 - Congenital myopathy with cores - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334 - Autosomal dominant keratitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 171918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918 - T-cell non-Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 - Leydig cell hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929 - Trisomy 10p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 - Citrullinemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442 - Congenital hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 - Sialuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 - Sitosterolemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=810 - Shigellosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 3165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165 - Eosinophilic fasciitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2420 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420 - Primary pulmonary lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 - Microscopic polyangiitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 - Granulomatosis with polyangiitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=863 - Trichinellosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 171695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 - Parkinsonian-pyramidal syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 171700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700 - Diffuse panbronchiolitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984 - Pulmonary agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706 - Short stature-delayed bone age due to thyroid hormone metabolism deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 171709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709 - Male infertility due to globozoospermia - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 171719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719 - Cutis laxa-Marfanoid syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1163 - Aspergillosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 171723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 - White sponge nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 - Hereditary xanthinuria - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 171673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673 - Limbal stem cell deficiency - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 - Maple syrup urine disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 32 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 - Glutathione synthetase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 171684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171684 - Idiopathic bilateral vestibulopathy - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 171690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 - Metabolic myopathy due to lactate transporter defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 171863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 - Autosomal dominant spastic paraplegia type 42 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 171871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871 - Renal pseudohypoaldosteronism type 1 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 - Exstrophy-epispadias complex - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 - Spondyloepimetaphyseal dysplasia, aggrecan type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 - Gastroschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 - Cap myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913 - Non-syndromic polydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876 - Generalized pseudohypoaldosteronism type 1 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=795 - Rare form of salmonellosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 171889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889 - Myopathy with hexagonally cross-linked tubular arrays - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 - Sarcoidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 171886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886 - Cylindrical spirals myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 92 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92 - Juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 - Small bowel atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 - Blindness-scoliosis-arachnodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 - Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 - Larynx atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199 - Esophageal atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1304 - Brucellosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=173 - Cholera - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 200037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 - Paroxysmal dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 - Tetralogy of Fallot - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 200418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418 - Immunodeficiency with factor I anomaly - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 - Autosomal dominant polycystic kidney disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 200421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421 - Immunodeficiency with factor H anomaly - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 - Autosomal dominant severe congenital neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 1209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209 - Tricuspid atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647 - Isolated encephalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 - Autosomal recessive spastic ataxia of Charlevoix-Saguenay - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478 - Interatrial communication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 - Congenital factor XII deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1482 - Gonococcal conjunctivitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959 - Evans syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284 - Alveolar echinococcosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 1177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 - Early-onset cerebellar ataxia with retained tendon reflexes - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 - Paroxysmal dyskinesia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 199340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340 - Muscular dystrophy, Selcen type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293 - Congenital herpes simplex virus infection - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 - Dubin-Johnson syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 199348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 - Thiamine-responsive encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287 - Takayasu arteritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800 - Extramammary Paget disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 199326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 199323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199323 - Endophthalmitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 - Congenital lobar emphysema - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 - Endocrine-cerebro-osteodysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 - Congenital myopathy, Paradas type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665 - Congenital mesoblastic nephroma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 - Wolfram syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 199633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199633 - Non-syndromic cerebral malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642 - Isolated congenital microcephaly - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 199639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199639 - Syndrome with corpus callosum agenesis/dysgenesis as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=549 - Legionnaires disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=704 - Pemphigus vulgaris - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 199354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 - Gerstmann-Straussler-Scheinker syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 - Fatal familial insomnia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 199630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199630 - Isolated cerebellar vermis hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199627 - Atypical autism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 199293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293 - Congenital microgastria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 - Whipple disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 199282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282 - Harlequin syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 199285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 - Hereditary hypercarotenemia and vitamin A deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2331 - Kawasaki disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 199276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276 - Familial multiple lipomatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 - GTP cyclohydrolase I deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 199279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279 - Familial angiolipomatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 199260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199260 - Calcifying aponeurotic fibroma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002 - Immune thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 199267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267 - Infantile digital fibromatosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 199315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315 - Familial clubfoot with or without associated lower limb anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 - Congenital respiratory-biliary fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 - Tetragametic chimerism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357 - Bronchogenic cyst - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 - Bernard-Soulier syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 - Congenital atransferrinemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 199302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302 - Isolated cleft lip - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306 - Cleft lip/palate - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 - Acatalasemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020 - Ramsay Hunt syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 199296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296 - Congenital isolated ACTH deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 - Craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299 - Late-onset isolated ACTH deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 - Dihydropyrimidine dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 189427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427 - Cushing syndrome due to bilateral macronodular adrenocortical disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 - Adenine phosphoribosyltransferase deficiency - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 3129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 - Sarcosinemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 13 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 - 6-pyruvoyl-tetrahydropterin synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 199257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199257 - Superficial fibromatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2494 - Ménétrier disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171 - Primary sclerosing cholangitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 199251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199251 - Ledderhose disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416 - Congenital primary lymphedema without systemic or visceral involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 199247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247 - Corticosteroid-binding globulin deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 199244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244 - Nelson syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 199241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241 - Pulmonary capillary hemangiomatosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 - Atypical hemolytic uremic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 189466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466 - Familial isolated hypoparathyroidism due to impaired PTH secretion - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 17 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=780 - Rhabdomyosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 - Rotor syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 2382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 - Lennox-Gastaut syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806 - Subacute sclerosing leukoencephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2467 - Systemic mastocytosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 - Epilepsy with myoclonic-atonic seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943 - Early-onset progressive encephalopathy with migrant continuous myoclonus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3299 - Tetanus - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302 - Asbestos intoxication - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=770 - Rabies - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 3386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3386 - American trypanosomiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 - Calpain-3-related limb-girdle muscular dystrophy R1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329 - Complete atrioventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137 - Autoimmune hepatitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186 - Primary biliary cholangitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397 - Giant cell arteritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2932 - Chronic inflammatory demyelinating polyneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398 - Multiple symmetric lipomatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1656 - Dermatitis herpetiformis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183763 - Rare genetic syndromic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183770 - Rare genetic immune disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198 - Stiff person spectrum disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183757 - Rare genetic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 - Juvenile polyposis syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131 - Budd-Chiari syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654 - Nephroblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1489 - Whooping cough - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764 - Osteochondritis dissecans - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587 - Myeloperoxidase deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3389 - Tuberculosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 1679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1679 - Diphtheria - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 1267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267 - Botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897 - Pityriasis rubra pilaris - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2103 - Guillain-Barré syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183669 - Agammaglobulinemia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 183666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666 - Hyper-IgM syndrome without susceptibility to opportunistic infections - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070 - Eosinophilic gastroenteritis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 183663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 - Hyper-IgM syndrome with susceptibility to opportunistic infections - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312 - Transient familial neonatal hyperbilirubinemia - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 183707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707 - Infantile LAD-like disease due to RAC2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 - Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 183681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183681 - Congenital functional phagocyte defect - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 183678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 - Hermansky-Pudlak syndrome due to AP-3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449 - Hepatoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 183675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675 - Recurrent infections associated with rare immunoglobulin isotypes deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 - Hydranencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183731 - Rare genetic gynecological and obstetrical diseases - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=533 - Listeriosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372 - Laryngocele - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 183710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183710 - Genetic susceptibility to infections due to particular pathogens - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380 - Legg-Calvé-Perthes disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 - Progressive supranuclear palsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677 - Pancreatoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 183734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183734 - Genetic gynecological tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 183651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183651 - Rare constitutional anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 183660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660 - Severe combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183654 - Rare genetic coagulation disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 183637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183637 - Rare genetic adrenal disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 183643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183643 - Genetic polyendocrinopathy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 183628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183628 - Rare genetic hypothalamic or pituitary disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 183625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183625 - Rare genetic diabetes mellitus - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 183634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183634 - Rare genetic parathyroid disease and phosphocalcic metabolism disorder - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 183631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183631 - Rare genetic thyroid disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 183616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183616 - Genetic neuro-ophthalmological disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183622 - Genetic respiratory malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183619 - Genetic eye tumor - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 183607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183607 - Genetic lens and zonula anomaly - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 - Autosomal dominant hereditary chronic pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 183589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183589 - Genetic thrombotic microangiopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 183592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183592 - Genetic renal tubular disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 - Giant axonal neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183595 - Genetic renal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 - Netherton syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 183576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183576 - Genetic branchial arch or oral-acral syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 - Young-onset Parkinson disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183580 - Genetic malformation syndrome with odontal and/or periodontal component - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 - Hereditary sensory and autonomic neuropathy type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183583 - Genetic head and neck malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183586 - Genetic glomerular disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 183557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183557 - Genetic developmental defect of the eye - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 - Nance-Horan syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183570 - Genetic malformation syndrome with short stature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183573 - Genetic overgrowth/obesity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326 - Congenital factor V deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 183554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183554 - Genetic respiratory or mediastinal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526 - Liddle syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 183548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183548 - Genetic visceral malformation of the liver, biliary tract, pancreas or spleen - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 - LCAT deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427 - Familial hypoaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 183545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183545 - Genetic digestive tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183542 - Genetic cranial malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215 - Congenital stationary night blindness - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 183539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183539 - Genetic renal or urinary tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 - Familial Mediterranean fever - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 183536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183536 - Genetic congenital limb malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180 - Choroideremia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 183533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183533 - Genetic multiple congenital anomalies/dysmorphic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183530 - Rare genetic developmental defect during embryogenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 - Androgen insensitivity syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253 - Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 183527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183527 - Genetic bone tumor - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 183524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183524 - Rare genetic bone disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327 - Congenital factor VII deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 183521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183521 - Rare genetic movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183518 - Hereditary ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183515 - Rare genetic medullar disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183512 - Rare genetic epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183509 - Rare genetic headache - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 - Familial hyperaldosteronism type I - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 183503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183503 - Genetic central nervous system and retinal vascular disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183506 - Genetic central nervous system malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574 - 21q deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183497 - Genetic neuromuscular disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183500 - Genetic neurodegenerative disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 183490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183490 - Genetic photodermatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183494 - Genetic immune deficiency with skin involvement - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 - Multiple endocrine neoplasia type 2 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146 - Differentiated thyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 183484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183484 - Genetic subcutaneous tissue disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183487 - Genetic skin tumor or hamartoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 - Familial prostate cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 183478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183478 - Genetic skin vascular disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183481 - Genetic mixed dermis disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 - Carnitine palmitoyltransferase II deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 183472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183472 - Genetic dermis disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183466 - Genetic hyperpigmentation of the skin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183469 - Genetic hypopigmentation of the skin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183460 - Genetic sebaceous gland anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446 - Ring chromosome 22 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183463 - Genetic pigmentation anomaly of the skin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183438 - Genetic erythrokeratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435 - Inherited ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 - ICF syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 183444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183444 - Genetic porokeratosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183441 - Genetic acrokeratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183450 - Genetic hair anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183447 - Genetic epidermal appendage anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 183454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183454 - Genetic nail anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 182228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182228 - Systemic autoimmune disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 182222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182222 - Rare systemic disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 - Bazex-Dupré-Christol syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 86 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86 - Familial abdominal aortic aneurysm - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 182231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182231 - Rare rheumatologic disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 - 46,XX gonadal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182734 - Genetic urticaria - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183426 - Genetic epidermal disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 183422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422 - Polymalformative genetic syndrome with increased risk of developing cancer - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182111 - Respiratory malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 182114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182114 - Rare urogenital tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 48 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 - Congenital bilateral absence of vas deferens - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117 - Non-syndromic urogenital tract malformation of female - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121 - Non-syndromic urogenital tract malformation of male - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124 - Non-syndromic urogenital tract malformation of male and female - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182127 - Extragonadal germinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 182130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182130 - Tumor of endocrine glands - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275 - Severe combined immunodeficiency due to DCLRE1C deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 182083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182083 - Channelopathy with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 182086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182086 - Acquired peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 182090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182090 - Pulmonary arterial hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 182095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182095 - Interstitial lung disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 182098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182098 - Pneumoconiosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 - Cherubism - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 182101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182101 - Idiopathic eosinophilic pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 182104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182104 - Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1047 - Sideroblastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 182108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182108 - Thoracic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 182067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182067 - Glial tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 182064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182064 - Rare neuroinflammatory or neuroimmunological disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 182061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182061 - Cerebellar malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182058 - Primary orthostatic hypotension - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 182079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182079 - ARX-related epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 - Self-limited neonatal epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 - Hidrotic ectodermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182070 - Rare neurodegenerative disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 182040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040 - Rare aplastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 182054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182054 - Rare thrombotic disease of hematologic origin - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 - Isolated atrial standstill - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 182050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 - MYH9-related syndromic thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 182047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182047 - Rare acquired hemolytic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 182043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182043 - Rare constitutional hemolytic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 181428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 - Familial Hyperalphalipoproteinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181419 - Rare hypoaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422 - Rare hyperlipidemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 181437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437 - Rare syndromic dyslipidemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441 - Rare disorder with hypergonadotropic hypogonadism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431 - Rare hypolipidemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 - Lujan-Fryns syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 181399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181399 - Rare hyperthyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181402 - Syndrome with hypoparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181393 - Growth hormone insensitivity syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 181396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181396 - Rare hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 - Van der Woude syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 181412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181412 - Adrenogenital syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181415 - Rare primary hyperaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 181405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181405 - Rare hypoparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 - Hereditary progressive cardiac conduction defect - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 181408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181408 - Rare hyperparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597 - Distal deletion 17q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 - Distal deletion 13q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621 - 3q13 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643 - Xp22.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627 - Deletion 5q35 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699 - Trisomy 12p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 - Non-distal duplication 10q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=507 - Leishmaniasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548 - Leprosy - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 - Duane retraction syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 - Congenital isolated hyperinsulinism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445 - Conotruncal heart malformations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495 - Meningioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 - Familial or sporadic hemiplegic migraine - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014 - Cleft palate - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 - Léri-Weill dyschondrosteosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358 - Gitelman syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 - 46,XY complete gonadal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557 - Non-syndromic anorectal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150 - Nasopharyngeal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133 - Chronic beryllium disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 - Currarino syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450 - Ring chromosome 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448 - Ring chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581 - Non-distal deletion 10q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580 - Distal deletion 10p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437 - Ring chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 - Progressive familial intrahepatic cholestasis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 1447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447 - Ring chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444 - Ring chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439 - Ring chromosome 12 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 - Ring chromosome 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 - Familial multiple nevi flammei - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 - Inverted duplicated chromosome 15 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 - Trisomy X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310 - Tetrasomy 9p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000 - Familial peripheral male-limited precocious puberty - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305 - Tetraploidy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 - Spina bifida-hypospadias syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708 - Mosaic trisomy 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711 - Mosaic trisomy 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 - Triploidy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692 - Mosaic trisomy 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698 - Mosaic trisomy 12 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706 - Mosaic trisomy 15 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 - Aase-Smith syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445 - Ring chromosome 21 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 7 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 - 3C syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 - Isolated acheiropodia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929 - Achalasia-microcephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297 - Insulin-resistance syndrome type A - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=922 - Familial nasal acilia - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 - Abruzzo-Erickson syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 27 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 - Vitamin B12-unresponsive methylmalonic acidemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939 - 3-hydroxyisobutyric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935 - Short-limb skeletal dysplasia with severe combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 - Achondrogenesis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949 - Acrocraniofacial dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945 - Acalvaria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957 - Acropectorovertebral dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958 - Acro-renal-mandibular syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 - Hajdu-Cheney syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702 - Non-distal duplication 13q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703 - Mosaic trisomy 14 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 - Distal duplication 14q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 - 17p11.2 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738 - Trisomy 4p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 - Trisomy 5p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745 - Distal duplication 6p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752 - Trisomy 8q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 - Proximal Xq28 duplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 - TRIM32-related limb-girdle muscular dystrophy R8 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 - Oculogastrointestinal muscular dystrophy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 1948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948 - Epilepsy-microcephaly-skeletal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 - Amelocerebrohypohidrotic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 - Epilepsy-telangiectasia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 - Griscelli syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 - Familial visceral myopathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 - Carnitine palmitoyl transferase 1A deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 - Thumb stiffness-brachydactyly-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077 - Dental ankylosis - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 - Aniridia-absent patella syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 - Hereditary neurocutaneous malformation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 - Vein of Galen aneurysmal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055 - Congenital left ventricular aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 - Metaphyseal anadysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041 - Hydrops fetalis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037 - Arthrogryposis multiplex congenita - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 - Aprosencephaly cerebellar dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125 - Ocular motor apraxia, Cogan type - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 - Radial deficiency-tibial hypoplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 - Lung agenesis-heart defect-thumb anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 - Ulnar hypoplasia-split foot syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 - Fibular aplasia-ectrodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 - Aplasia cutis-myopia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 - Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 - Aphalangy-syndactyly-microcephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 - Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 - Antley-Bixler syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104 - Anophthalmia plus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094 - Anonychia-microcephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039 - Orofacial clefting syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 - Agnathia-holoprosencephaly-situs inversus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139042 - Malformation syndrome with odontal and/or periodontal component - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 - Fetal akinesia deformation sequence - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 51 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 - Aicardi-Goutières syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139021 - Malformation syndrome with short stature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981 - Internal carotid absence - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139024 - Overgrowth/obesity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977 - Adrenomyodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 - Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139033 - Progeroid syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139036 - Branchial arch or oral-acral syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139027 - Rare developmental defect with skin/mucosae involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 - Testicular regression syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139030 - Rare developmental defect with connective tissue involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970 - Hereditary sensory and autonomic neuropathy type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 - Acrorenal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 40 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 - Acromesomelic dysplasia, Maroteaux type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 - Acromicric dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 139012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139012 - Rare bone development disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139009 - Developmental anomaly of metabolic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 - Hereditary continuous muscle fiber activity - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973 - Isolated absence/hypoplasia of fingers excluding thumb, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959 - Acro-renal-ocular syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 - Acromesomelic dysplasia, Hunter-Thompson type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 139411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411 - Carney triad - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 139414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414 - Congenital panfollicular nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 - Amelo-onycho-hypohidrotic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139417 - Acute transverse myelitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 - Enamel-renal syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 139423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139423 - Idiopathic acute transverse myelitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426 - Perioral myoclonia with absences - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431 - Epilepsy with eyelid myoclonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 - Beta-mercaptolactate cysteine disulfiduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 139436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436 - Multicentric reticulohistiocytosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 - Amaurosis-hypertrichosis syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 - Congenital generalized hypertrichosis, Ambras type - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 139390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390 - Non-syndromic craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393 - Syndromic craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 139402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139402 - Drug reaction with eosinophilia and systemic symptoms - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 139406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 - Encephalopathy due to prosaposin deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 - Alopecia-epilepsy-pyorrhea-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 - Alopecia universalis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 59 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 - Allan-Herndon-Dudley syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 - Scalp defects-postaxial polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 - Alopecia-contractures-dwarfism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 - Ascher syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 - Blepharonasofacial malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 - Maxillonasal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 - Tricho-retino-dento-digital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262 - Böök syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 - Boomerang dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259 - Blepharoptosis-myopia-ectopia lentis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261 - Bonnemann-Meinecke-Reich syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 - Congenital intrauterine infection-like syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228 - Banki syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 - Bencze syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237 - Beemer-Ertbruggen syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 - Auriculoosteodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 - Congenital contractural arachnodactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137617 - Nephrogenic systemic fibrosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628 - Cardiac anomalies-heterotaxy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293 - Brachyolmia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 137625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 - Branchioskeletogenital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137672 - Pellucid marginal degeneration - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667 - Capillary malformation-arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 - Branchio-oculo-facial syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 - Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 137577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137577 - Neonatal hypoxic and ischemic brain injury - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 137583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583 - Vulvar intraepithelial neoplasia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 - Brachydactyly-arterial hypertension syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 - Bowen-Conradi syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 - Legius syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 137593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137593 - Infectious epithelial keratitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 137596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137596 - Neurotrophic keratopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 - Brachydactyly-preaxial hallux varus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137599 - Herpes simplex virus stromal keratitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 137602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137602 - Corneal endotheliitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166 - Congenital unilateral hypoplasia of depressor anguli oris - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 - Ataxia-oculomotor apraxia type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 137820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137820 - Extrapelvic endometriosis - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 1160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1160 - Chylous ascites - - - - 165711 - Rare abdominal surgical disease - - - - Preferential parent - - - - - - 137817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137817 - Arachnoiditis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 137814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137814 - Macular amyloidosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174 - Cerebellar ataxia-ectodermal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137839 - Lemierre syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 137834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 - Frank-Ter Haar syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178 - Ataxia-tapetoretinal degeneration syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 - X-linked progressive cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179 - Benign paroxysmal tonic upgaze of childhood with ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 - Cerebellar ataxia-hypogonadism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 137867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867 - Madras motor neuron disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 137681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 - AREDYLD syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 1131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 - X-linked mandibulofacial dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 - Spondyloepiphyseal dysplasia with metatarsal shortening - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 137698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137698 - Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 137754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 - Aminoacylase 1 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 - Infantile-onset X-linked spinal muscular atrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 - Arthrogryposis-like hand anomaly-sensorineural deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137686 - Asherman syndrome - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 137776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 - Lethal congenital contracture syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 - Arthrogryposis multiplex congenita-whistling face syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 - Kuskokwim syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137807 - Primary cutaneous amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 - Progressive pseudorheumatoid dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 137810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137810 - Nodular cutaneous amyloidosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 137783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 - Lethal congenital contracture syndrome type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1214 - Progressive hemifacial atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 138041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041 - Pierre Robin syndrome associated with collagen disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 - Autosomal dominant congenital benign spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 138047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047 - Pierre Robin syndrome associated with a chromosomal anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 138044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044 - Rare disease with Pierre Robin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 138055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055 - Pierre Robin syndrome associated with bone disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1221 - Cheilitis glandularis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 138050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050 - Pierre Robin syndrome associated with branchial archs anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 138059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059 - Teratogenic Pierre Robin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 - Baller-Gerold syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 - Bamforth-Lazarus syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227 - Bangstad syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 - Ataxia-photosensitivity-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182 - Spastic ataxia with congenital miosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 137888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 - Auriculocondylar syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893 - Male infertility due to large-headed multiflagellar polyploid spermatozoa - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185 - Spinocerebellar ataxia-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 - Ataxia-deafness-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905 - Syndromic optic nerve hypoplasia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 - Atelosteogenesis type I - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 137908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 - Hypotonia with lactic acidemia and hyperammonemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 137914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914 - Choanal atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193 - Atkin-Flaitz syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917 - Choanal atresia, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Burn-McKeown syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920 - Choanal atresia, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 - Colonic atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926 - Primary laryngeal lymphangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137929 - Neonatal brainstem dysfunction - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203 - Duodenal atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 - Pulmonary atresia-intact ventricular septum syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 137932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 - Congenital laryngeal palsy - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 137935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 - Airway infantile hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449 - Ring chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242 - Paramedian nasal cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453 - Cleidorhizomelic syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 141239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239 - Median cleft of the upper lip and maxilla - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440 - Ring chromosome 14 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234 - Median facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443 - Ring chromosome 19 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141229 - Facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261 - Tessier number 5 facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 - Tessier number 4 facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253 - Oblique facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199 - Cerebrofacial arteriovenous metameric syndrome type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 - Benign hereditary chorea - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 141194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194 - Cerebrofacial arteriovenous metameric syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189 - Cerebrofacial arteriovenous metameric syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 141184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184 - Rapidly involuting congenital hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 - Xq21 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219 - Nasal dorsum fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 141214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 - Isolated congenital syngnathia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141209 - Diffuse lymphatic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 - Choroidal atrophy-alopecia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155832 - Rare head and neck malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835 - Cysts and fistulae of the face and oral cavity - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 - Biemond syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878 - Submucosal cleft palate - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 - Corneal dystrophy-perceptive deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 - Cooks syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838 - Pinnae fistula or cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155867 - Paramedian facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 - Lethal congenital contracture syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 - Tessier number 7 facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265 - Tessier number 6 facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269 - Lateral facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 - Coloboma of macula-brachydactyly type B syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288 - Midline cervical cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291 - Cleft lip and alveolus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091 - Polyrrhinia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 - Nasolacrimal duct cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 - Uncombable hair syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 141099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099 - Proboscis lateralis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096 - Supernumerary nostril - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 - Tarsal-carpal coalition syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107 - Nasopharyngeal teratoma - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 141103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103 - Nasal dermoid cyst - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 141115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115 - Nasal ganglioglioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 - Familial calcium pyrophosphate deposition - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 141112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 - Nasal glial heterotopia - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 1394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 - Cerebrofaciothoracic dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051 - Facial dermoid cyst - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 141064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064 - Isolated lower lip fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061 - Commissural lip fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071 - Isolated digestive duplication cyst of the tongue - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 1397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 - Hydrocephaly-cerebellar agenesis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067 - Cervicofacial fibrochondroma - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 1398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398 - Isolated cerebellar agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 - Richards-Rundle syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077 - Epignathus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 - CHAND syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 - External auditory canal aplasia/hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152 - Isolated congenital hypoglossia/aglossia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 - Metaphyseal chondrodysplasia, Schmid type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 141163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 - Glossopalatine ankylosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141168 - Frontonasal arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141171 - Maxillary arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 - Desbuquois syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 141174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141174 - Mandibular arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179 - Non-involuting congenital hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 - Nasal encephalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121 - Congenital subglottic stenosis - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 141124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124 - Congenital laryngeal cyst - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 141127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127 - Congenital tracheal stenosis - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 141132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 - Oculo-auriculo-vertebral spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145 - Hemifacial hyperplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148 - Hemifacial myohyperplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 - Spondyloepimetaphyseal dysplasia, matrilin-3 type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 - Cataract-hypertrichosis-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 - Hereditary hyperferritinemia-cataract syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 156643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156643 - Genetic endocrine growth disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 156638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156638 - Rare genetic endocrine disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 156629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156629 - Rare genetic cause of hypertension - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 1373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373 - Cataract-aberrant oral frenula-growth delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156622 - Genetic urogenital tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156619 - Rare genetic urogenital disease - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 1368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 - Cataract-ataxia-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156610 - Rare genetic respiratory disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156607 - Genetic biliary tract disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 156604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156604 - Genetic parenchymatous liver disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 156601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156601 - Rare genetic hepatic disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 156532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156532 - Rare syndrome with cardiac malformations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252 - Tracheal anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 - Carnosinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 - Cerebrocostomandibular syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823 - Klüver-Bucy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 157826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157826 - Congenital epulis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 157808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808 - Isolated pseudoarthrosis of the limbs - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390 - Night blindness-skeletal anomalies-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 - Cold-induced sweating syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 - Cortical blindness-intellectual disability-polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 - Serrated polyposis syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 - Mesoaxial synostotic syndactyly with phalangeal reduction - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 - Epithelioid hemangioendothelioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 - Hereditary mixed polyposis syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 157769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 - Situs ambiguus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 - Late infantile CACH syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 - Juvenile or adult CACH syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380 - Cataract-nephropathy-encephalopathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713 - Congenital or early infantile CACH syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 156731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731 - Dyssegmental dysplasia, Rolland-Desbuquois type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377 - Cataract-microcornea syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1325 - Camptodactyly-taurinuria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156159 - Isolated dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 - Camptodactyly syndrome, Guadalajara type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156165 - Retinal ciliopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327 - Camptodactyly syndrome, Guadalajara type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156162 - Renal ciliopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 1328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 - Camurati-Engelmann disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 156146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156146 - Predominantly small-vessel vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156143 - Predominantly medium-vessel vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 - Camptodactyly-joint contractures-facial skeletal defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156152 - Anti-neutrophil cytoplasmic antibody-associated vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 156149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156149 - Immune complex mediated vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1314 - Symmetrical thalamic calcifications - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 156005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005 - Primary early-onset glaucoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 156140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156140 - Predominantly large-vessel vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 - Campomelia, Cumming type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319 - Camptobrachydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889 - Coloboma of inferior eyelid - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 - Distal limb deficiencies-micrognathia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884 - Coloboma of superior eyelid - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899 - Mandibulofacial dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 155896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896 - Otomandibular dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313 - Infantile choroidocerebral calcification syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 156237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237 - Syndrome or malformation associated with head and neck malformations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 - Heart-hand syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243 - Pinnae and external auditory canal anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246 - Nose and cavum anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355 - Congenital heart defect-round face-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249 - Larynx anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156212 - Hypoglossia/aglossia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 - Heart-hand syndrome type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156215 - Oromandibular-limb anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156224 - Paralytic facial malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 - Cardiomyopathy-cataract-hip spine disease syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 156230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156230 - Facial arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156180 - Retinal ciliopathy due to mutation in nephronophthisis gene - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338 - Heart defect-tongue hamartoma-polysyndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156183 - Retinal ciliopathy due to mutation in Bardet-Biedl gene - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 156202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202 - Otomandibular dysplasia associated with monogenic syndromes - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156207 - Macroglossia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156168 - Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 2856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 - Persistent Müllerian duct syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 156171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156171 - Retinal ciliopathy due to mutation in the RPGR gene - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 156174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156174 - Retinal ciliopathy due to mutation in the RPGRIP gene - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 - Hyperkeratosis-hyperpigmentation syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 156177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156177 - Retinal ciliopathy due to mutation in Usher gene - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 - Pentalogy of Cantrell - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1682 - Arterial dissection-lentiginosis syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 1757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757 - Fibular dimelia-diplopodia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 - Caudal duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140162 - Inherited cancer-predisposing syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 - Dysequilibrium syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 - Temtamy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1780 - Thakker-Donnai syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 - 45,X/46,XY mixed gonadal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784 - Acrofrontofacionasal dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 - Dysosteosclerosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 - Hypomandibular faciocranial dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 - Acrofacial dysostosis, Catania type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 - Acrofacial dysostosis, Rodríguez type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 - Transcobalamin deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 139441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 - Hypomyelination with atrophy of basal ganglia and cerebellum - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 - Steroid dehydrogenase deficiency-dental anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444 - Leukoencephalopathy with bilateral anterior temporal lobe cysts - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447 - Progressive cavitating leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 - Hypotrichosis with juvenile macular degeneration - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 139450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450 - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 - Autosomal recessive bestrophinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574 - Retinal degeneration-nanophthalmos-glaucoma syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 139466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 - SERKAL syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596 - Distal deletion 15q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 - 17q11.2 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 - 1p36 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 - Autosomal recessive spastic paraplegia type 39 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 - Oculocerebrocutaneous syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653 - Dentin dysplasia - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 139507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 - Dietary iron overload disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 139515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 - Charcot-Marie-Tooth disease type 4J - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 - Neuropathy with hearing impairment - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657 - Dermatoosteolysis, Kirghizian type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 - Distal hereditary motor neuropathy type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 - Absence of fingerprints-congenital milia syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 139518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 - Distal hereditary motor neuropathy type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659 - Dermatoleukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 - Distal spinal muscular atrophy type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 - Distal hereditary motor neuropathy type 5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 - Dermoodontodysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 - X-linked distal spinal muscular atrophy type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661 - X-linked corneal dermoid - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 - Restrictive dermopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 - Distal hereditary motor neuropathy, Jerash type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573 - Hereditary sensory and autonomic neuropathy with deafness and global delay - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665 - Sporadic fetal brain disruption sequence - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 139564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564 - Hereditary sensory and autonomic neuropathy type 1B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583 - X-linked hereditary sensory and autonomic neuropathy with deafness - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 139578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 - Mutilating hereditary sensory neuropathy with spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 139589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 - Distal hereditary motor neuropathy type 7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 - Split cord malformation type I - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917 - Stapes ankylosis with broad thumbs and toes - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 - Cryptorchidism-arachnodactyly-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547 - Cryptomicrotia-brachydactyly-excess fingertip arch syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 - Titin-related limb-girdle muscular dystrophy R10 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545 - Crisponi syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 140905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 - Jackson-Weiss syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 - Brachydactyly type B2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 - Joubert syndrome and related disorders - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140896 - Severe acute respiratory syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 - Gómez-López-Hernández syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957 - Autosomal dominant macrothrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140949 - Low-flow priapism - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 1555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936 - Lelis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 - Short stature due to primary acid-labile subunit deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Self-limited neonatal-infantile epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 140933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933 - Linear atrophoderma of Moulin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 140989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989 - Primary angiitis of the central nervous system - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 - RHYNS syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 140966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966 - Palmoplantar keratoderma, Nagashima type - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 140963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 - Bilateral microtia-deafness-cleft palate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046 - Cervical dermoid cyst - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 141037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037 - Fourth branchial cleft anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030 - Third branchial cleft anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022 - Second branchial cleft anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979 - Lipodystrophy due to peptidic growth factors deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 141013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013 - First branchial cleft anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 - Knobloch syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551 - Familial benign copper deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 - Orofaciodigital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 - X-linked complicated corpus callosum dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 - Primary intraosseous venous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140453 - Autosomal dominant hereditary demyelinating motor and sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140286 - Secondary hypoparathyroidism due to impaired parathormon secretion - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 - Autosomal recessive distal hereditary motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509 - Coxopodopatellar syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140471 - Hereditary sensory and autonomic neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 - Crane-Heise syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140474 - Autosomal dominant hereditary sensory and autonomic neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 140477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140477 - Autosomal recessive hereditary sensory and autonomic neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506 - Thin ribs-tubular bones-dysmorphism syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 140456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140456 - Autosomal dominant hereditary axonal motor and sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 140459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140459 - Autosomal recessive hereditary demyelinating motor and sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508 - Coxoauricular syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 140465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 - Autosomal dominant distal hereditary motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 - Cantú syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 - SPECC1L-related hypertelorism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 - Craniodiaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514 - Craniodigital-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481 - Autosomal dominant slowed nerve conduction velocity - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516 - Non-syndromic bilambdoid and sagittal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 - Craniosynostosis, Philadelphia type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 140653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140653 - Neuro-ophthalmological disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 - Craniofacial-deafness-hand syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521 - Craniofrontonasal dysplasia-Poland anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 - Craniometaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 - Cranio-osteoarthropathy - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969 - Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968 - Flat face-microstomia-ear anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 - Faciocardiorenal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 - Lethal faciocardiomelic dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 - Autosomal recessive faciodigitogenital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962 - Exostoses-anetodermia-brachydactyly type E syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822 - Dysplasia epiphysealis hemimelica - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 - Lowry-Wood syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952 - Epiphyseal stippling-osteoclastic hyperplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954 - Congenital lethal erythroderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 - Spinocerebellar ataxia type 34 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 - Diabetic embryopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927 - Emery-Nelson syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937 - Eng-Strom syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 - Toluene embryopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 - Phenobarbital embryopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 - Fetal methylmercury syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 - Methimazole embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 - Fetal hydantoin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 - Fetal minoxidil syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 - Cocaine embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 - Fetal iodine syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 - Diethylstilbestrol syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294 - Fetal cytomegalovirus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 - Vitamin K antagonist embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 - Fetal trimethadione syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 - EEM syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 - Aminopterin/methotrexate embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 - Indomethacin embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 - Fetal valproate spectrum disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895 - Edinburgh malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 - Ectrodactyly-polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 - Focal facial dermal dysplasia type III - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 - Ectodermal dysplasia, trichoodontoonychial type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 - Ectodermal dysplasia-sensorineural deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875 - Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 - Jalili syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 - Melorheostosis with osteopoikilosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 - Hereditary bullous dystrophy, macular type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 - Cone rod dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871 - Progressive cone dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 - Skeletal dysplasia-epilepsy-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254 - Spondylometaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852 - X-linked retinal dysplasia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842 - Bone dysplasia, lethal Holmgren type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839 - Hereditary mucoepithelial dysplasia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837 - Metaphyseal chondrodysplasia, Rosenberg type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836 - Mesomelic dysplasia, Kantaputra type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 - Axial mesodermal dysplasia spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 - Schimke immuno-osseous dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 - Epiphyseal dysplasia-hearing loss-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 - Multiple epiphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 - Odontomicronychial dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808 - Hidrotic ectodermal dysplasia, Christianson-Fourie type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 - Hidrotic ectodermal dysplasia, Halal type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 - Ectodermal dysplasia-blindness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 - Ghosal hematodiaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 - Thoracomelic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801 - Kyphomelic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798 - Craniofacial dysostosis-diaphyseal hyperplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1799 - Familial developmental dysphasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 - Oculomaxillofacial dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 - Isolated hemihyperplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130 - Non-syndromic hemimelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 - 46,XX ovotesticular difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139 - Hernández-Aguirre Negrete syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141 - Diaphragmatic defect-limb deficiency-skull defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 - Donnai-Barrow syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145 - Craniosynostosis, Herrmann-Opitz type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 - Nodular neuronal heterotopia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158048 - Hemophagocytic syndrome associated with an infection - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 158057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158057 - Acquired hemophagocytic lymphohistiocytosis associated with malignant disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061 - Macrophage activation syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107 - Hall-Riggs syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110 - Hallux varus-preaxial polysyndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111 - Cystic hamartoma of lung and kidney - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158124 - Genetic dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 158266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158266 - Huntington disease-like syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 - Harrod syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158300 - Rare genetic hematologic disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 - Hip dysplasia, Beukes type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994 - Short stature-craniofacial anomalies-genital hypoplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123 - Multifocal infantile hemangioma with extracutenous involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997 - Benign cephalic histiocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 - GMS syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991 - Generalized eruptive histiocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091 - Multinodular goiter-cystic kidney-polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157987 - Non-Langerhans cell histiocytosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 158011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158011 - Necrobiotic xanthogranuloma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 158008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008 - Papular xanthoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 - Gordon syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003 - Xanthoma disseminatum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000 - Juvenile xanthogranuloma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 - Acromesomelic dysplasia, Grebe type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 158025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025 - Hereditary progressive mucinous histiocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 158022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022 - Progressive nodular histiocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 - Greig cephalopolysyndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 - Gorlin-Chaudhry-Moss syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 158019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019 - Indeterminate cell histiocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 158014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014 - Rosaï-Dorfman disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 - Grant syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 158041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158041 - Secondary hemophagocytic lymphohistiocytosis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 - Grubben-de Cock-Borghgraef syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158038 - Primary hemophagocytic lymphohistiocytosis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104 - Dysmorphism-pectus carinatum-joint laxity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158032 - Hemophagocytic syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 157843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157843 - Trigeminal autonomic cephalalgia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 - Gastrocutaneous syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 157832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 - Craniorhiny - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157835 - Paroxysmal hemicrania - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 - Galloway-Mowat syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 - Genitopalatocardiac syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 - Huntington disease-like 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 - Gemignani syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 - Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 - Oculoauricular syndrome, Schorderet type - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 157946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 - Huntington disease-like 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 157949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 - Combined immunodeficiency with granulomatosis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 - German syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 - Congenital muscular dystrophy due to LMNA mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085 - Glaucoma-sleep apnea syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 2084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083 - Prominent glabella-microcephaly-hypogenitalism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 - Flynn-Aird syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2048 - Foix-Chavany-Marie syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 - Splenogonadal fusion-limb defects-micrognathia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064 - Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250 - Frontonasal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 - Fryns syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 - Gingival fibromatosis-hypertrichosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025 - Gingival fibromatosis-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 - Gingival fibromatosis-progressive deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 - Fibrochondrogenesis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019 - Femur-fibula-ulna complex - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 - Hereditary gingival fibromatosis - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 2022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 - Endocardial fibroelastosis - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824 - Paraplegia-intellectual disability-hyperkeratosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045 - FLOTCH syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 - Floating-Harbor syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769 - Plaque-form urticaria pigmentosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006 - Median cleft lip/mandible - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766 - Typical urticaria pigmentosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007 - Alar cartilages hypoplasia-coloboma-telecanthus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 - Cleft lip/palate-deafness-sacral lipoma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 - Lethal acantholytic erosive disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 158684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 - Epidermolysis bullosa simplex with pyloric atresia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 - Laryngotracheoesophageal cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 - Cleft lip/palate-intestinal malrotation-cardiopathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 - Epidermolysis bullosa simplex with circinate migratory erythema - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 158676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 - Localized dystrophic epidermolysis bullosa, nails only - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 158673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 - Localized dystrophic epidermolysis bullosa, acral form - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 158668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 - Ectodermal dysplasia-skin fragility syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 - Cleft palate-lateral synechia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2017 - Sternal cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013 - Cleft palate-large ears-small head syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010 - Cleft palate-stapes fixation-oligodontia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 158778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778 - Isolated bone marrow mastocytosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 158775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775 - Smoldering systemic mastocytosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 158772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772 - Nodular urticaria pigmentosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 - Acrocardiofacial syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987 - Isolated femoral agenesis/hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 - Bilateral striopallidodentate calcinosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995 - Cleft lip-retinopathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 - Pai syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 - Femoral-facial syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 - Familial partial lipodystrophy, Dunnigan type - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 247775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 - Mayer-Rokitansky-Küster-Hauser syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 - Müllerian aplasia and hyperandrogenism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351 - Kousseff syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 - Schilbach-Rott syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 - FTH1-related iron overload - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 247798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 - MUTYH-related polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 247794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 - Keratosis follicularis spinulosa decalvans - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 247685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 - Odontohypophosphatasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 - Haim-Munk syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 - Multiple endocrine neoplasia type 2B - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 247698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 - Multiple endocrine neoplasia type 2A - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 247724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247724 - Idiopathic eosinophilic myositis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 247718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247718 - Inflammatory myopathy with abundant macrophages - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 247765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247765 - X-linked cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 - Kniest dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247762 - Lipoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347 - Lethal Kniest-like dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 - Citrullinemia type II - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 - Kenny-Caffey syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 - Neonatal intrahepatic cholestasis due to citrin deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604 - Juvenile primary lateral sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 247623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 - Perinatal lethal hypophosphatasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338 - Isolated punctate palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 - Diffuse palmoplantar keratoderma, Bothnian type - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 - Adult hypophosphatasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 - Keratoderma hereditarium mutilans - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378 - Autosomal recessive secondary polycythemia not associated with VHL gene - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 - Jung syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 - Osteopenia-intellectual disability-sparse hair syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 - Autosomal dominant secondary polycythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 - Sanjad-Sakati syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 - Primary ciliary dyskinesia-retinitis pigmentosa syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 247525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525 - Citrullinemia type I - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 247546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 - Acute neonatal citrullinemia type I - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 - Epidermolysis bullosa simplex with anodontia/hypodontia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 247573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 - Late-onset citrullinemia type I - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329 - Karsch-Neugebauer syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582 - Citrin deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 - Kapur-Toriello syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 248404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248404 - Rare thrombotic disorder due to an acquired platelet anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 - Lowe-Kohn-Cohen syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 248401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248401 - Rare thrombotic disorder due to a constitutional platelet anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 - Lowry-MacLean syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405 - Thickened earlobes-conductive deafness syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 248368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248368 - Rare thrombotic disorder due to a platelet anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 248365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248365 - Rare thrombotic disorder due to an acquired coagulation factors defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 250165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250165 - Genetic polycythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412 - Dislocation of the hip-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575 - Cystic fibrosis-gastritis-megaloblastic anemia syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 248408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 - Familial hypodysfibrinogenemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410 - Hypergonadotropic hypogonadism-cataract syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 248326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248326 - Rare hemorrhagic disorder due to a platelet anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399 - Nasopalpebral lipoma-coloboma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 248315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248315 - Rare hemorrhagic disorder due to a coagulation factors defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2400 - Peripheral motor neuropathy-dysautonomia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 248308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248308 - Rare hemorrhagic disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 - Encephalocraniocutaneous lipomatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 248361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248361 - Rare thrombotic disorder due to a constitutional coagulation factors defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 248358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248358 - Rare thrombotic disorder due to a coagulation factors defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 248347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248347 - Rare hemorrhagic disorder due to an acquired platelet anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 248340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 - Isolated delta-storage pool disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 248111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 - Juvenile Huntington disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387 - Leukonychia totalis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386 - Leukoencephalopathy-palmoplantar keratoderma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 248095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095 - Primary hypertrophic osteoarthropathy - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 - Early-onset parkinsonism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 248302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248302 - Rare acquired deficiency anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2391 - Congenitally short costocoracoid ligament - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 248293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248293 - Rare deficiency anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390 - Lichtenstein syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 248296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248296 - Constitutional deficiency anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 247834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 - Occult macular dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 2371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 - Lethal Larsen-like syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369 - Limb body wall complex - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 - Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827 - Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 - Laurin-Sandrow syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 - NLRP12-associated hereditary periodic fever syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375 - Laryngeal abductor paralysis-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2456 - Familial supernumerary nipples - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 - Mucocutaneous venous malformations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 - Patterson-Stevenson-Fontaine syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 244305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 244283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 - Biliary atresia with splenic malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 - Isolated split hand-split foot malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 244242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242 - HELLP syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437 - Czeizel-Losonci syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 244275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275 - De novo thrombotic microangiopathy after kidney transplantation - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 2438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 - Hand-foot-genital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 243343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 - Dimethylglycine dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 243367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367 - Acute fatty liver of pregnancy - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 2435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 - Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 - Macrocephaly-spastic paraplegia-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 - Upper limb defect-eye and ear abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353 - Generalized pustular psoriasis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487 - Lower limb malformation-hypospadias syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247257 - Inhalational anthrax - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 247245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247245 - Superficial siderosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 247242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247242 - Acquired ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 - Melorheostosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247239 - Non-hereditary degenerative ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 247234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247234 - Sporadic adult-onset ataxia of unknown etiology - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2483 - Melkersson-Rosenthal syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 247203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203 - Collecting duct carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 247198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 - Progressive cerebello-cerebral atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481 - Neurocutaneous melanocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482 - Melhem-Fahl syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247165 - Infantile mercury poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 2477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 - Isolated megalencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 - Megalocornea-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 - White forelock with malformations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476 - Dysraphism-cleft lip/palate-limb reduction defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473 - McKusick-Kaufman syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 - McDonough syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464 - Marfanoid syndrome, De Silva type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463 - Marfanoid habitus-autosomal recessive intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 - Shprintzen-Goldberg syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 - Marden-Walker syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630 - Anaplastic oligodendroglioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172 - Microcephaly-glomerulonephritis-marfanoid habitus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636 - Ependymoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251639 - Subependymoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251643 - Myxopapillary ependymoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 251646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251646 - Anaplastic ependymoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251651 - Oligoastrocytic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181 - Hydrocephaly-tall stature-joint laxity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251656 - Oligoastrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180 - Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251663 - Anaplastic oligoastrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 - Hydrocephalus-blue sclerae-nephropathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251668 - Glial tumor of neuroepithelial tissue with unknown origin - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671 - Angiocentric glioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 - Hydrolethalus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251674 - Chordoid glioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251679 - Astroblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312 - Autosomal dominant epidermolytic ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 251852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251852 - Embryonal tumor of neuroepithelial tissue - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576 - Gliosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251561 - High-grade astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 - Hirschsprung disease-type D brachydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582 - Gliomatosis cerebri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579 - Giant cell glioblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 - Mowat-Wilson syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251592 - Low-grade astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589 - Anaplastic astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598 - Protoplasmic astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 - Hirschsprung disease-deafness-polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595 - Diffuse astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251604 - Gemistocytic astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251601 - Fibrillary astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158 - Histidinuria-renal tubular defect syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 251612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612 - Pilocytic astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 - Holoprosencephaly-craniosynostosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607 - Pleomorphic xanthoastrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251618 - Subependymal giant cell astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165 - Holoprosencephaly-caudal dysgenesis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615 - Pilomyxoid astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166 - Holoprosencephaly-postaxial polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627 - Oligodendroglioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 - Holzgreve syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251623 - Pituicytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 251927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251927 - Extraventricular neurocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251931 - Cerebellar liponeurocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 - Hypertrichosis lanuginosa congenita - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251919 - Pineal parenchymal tumor of intermediate differentiation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 - Hypertrichosis cubiti - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251924 - Neuronal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 - Ramos-Arroyo syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251940 - Desmoplastic infantile astrocytoma/ganglioglioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251946 - Dysembryoplastic neuroepithelial tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 - Hypodontia-dysplasia of nails syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251934 - Mixed neuronal-glial tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 - Hypertryptophanemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 251937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251937 - Gangliocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232 - Primary hypergonadotropic hypogonadism-partial alopecia syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 251962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251962 - Papillary glioneuronal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251975 - Rosette-forming glioneuronal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 - Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 251949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251949 - Ganglioglioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251957 - Anaplastic ganglioglioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006 - Yolk sac tumor of central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238 - Familial isolated hypoparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 252015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015 - Choriocarcinoma of the central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 2235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 - Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 251992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251992 - Ganglioneuroma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251995 - Primary germ cell tumor of central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251867 - Classic medulloblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199 - Epidermolytic palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863 - Desmoplastic/nodular medulloblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200 - Focal palmoplantar and gingival keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858 - Medulloblastoma with extensive nodularity - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495 - Transgrediens et progrediens palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251855 - Anaplastic/large cell medulloblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206 - Ankylosing vertebral hyperostosis with tylosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201 - Palmoplantar keratoderma-spastic paralysis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877 - Ganglioneuroblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 - Palmoplantar keratoderma-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251870 - Central nervous system embryonal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251902 - Atypical papilloma of choroid plexus - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899 - Choroid plexus carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 - Hypertelorism-microtia-facial clefting syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251896 - Choroid plexus tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211 - Hypertelorism-hypospadias-polysyndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251915 - Papillary tumor of the pineal region - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251912 - Pineocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 - Cervical hypertrichosis-peripheral neuropathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909 - Pineoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 - Multiple pterygium-malignant hyperthermia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251905 - Pineal tumor of neuroepithelial tissue - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 - Maternal hyperthermia-induced birth defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 - 2q32q33 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 - Hypotrichosis-intellectual disability, Lopes type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038 - 3q29 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999 - 1q41q42 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 - Hypospadias-intellectual disability, Goldblatt type syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004 - Paternal uniparental disomy of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009 - Maternal uniparental disomy of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014 - 2q31.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 - Superficial epidermolytic ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061 - 7q31 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066 - 8p11.2 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 - Ichthyosis-oral and digital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 - 8p23.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 - Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 251076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076 - 8p23.1 duplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 - Ichthyosis follicularis-alopecia-photophobia syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043 - Ring chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 - Neutral lipid storage disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046 - 6p22 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 - Harlequin ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271 - Congenital ichthyosis-microcephalus-tetraplegia syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056 - 6q25.2q25.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250808 - Serpinopathy with toxic serpin polymerization - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 250805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250805 - Serpinopathy - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 2246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246 - Cerebellar hypoplasia-tapetoretinal degeneration syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 250831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250831 - Logopenic progressive aphasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 - Ulna hypoplasia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250811 - Serpinopathy with loss of serpin function - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 2239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239 - Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 - Fibulo-ulnar hypoplasia-renal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 - Primary pulmonary hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 - AICA-ribosiduria - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 250994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994 - 1q21.1 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989 - 1q21.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251 - Thumb deformity-alopecia-pigmentation anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250908 - Rare neoplastic disease - - - - - 892 - Von Hippel-Lindau disease - - - Preferential parent - - - - - - 652 - Multiple endocrine neoplasia type 1 - - - Preferential parent - - - - - - 790 - Retinoblastoma - - - Preferential parent - - - - - - 524 - Li-Fraumeni syndrome - - - Preferential parent - - - - - - 635 - Neuroblastoma - - - Preferential parent - - - - - - 2420 - Primary pulmonary lymphoma - - - Preferential parent - - - - - - 2665 - Congenital mesoblastic nephroma - - - Preferential parent - - - - - - 2800 - Extramammary Paget disease - - - Preferential parent - - - - - - 449 - Hepatoblastoma - - - Preferential parent - - - - - - 677 - Pancreatoblastoma - - - Preferential parent - - - - - - 654 - Nephroblastoma - - - Preferential parent - - - - - - 780 - Rhabdomyosarcoma - - - Preferential parent - - - - - - 2467 - Systemic mastocytosis - - - Preferential parent - - - - - - 1331 - Familial prostate cancer - - - Preferential parent - - - - - - 146 - Differentiated thyroid carcinoma - - - Preferential parent - - - - - - 653 - Multiple endocrine neoplasia type 2 - - - Preferential parent - - - - - - 2495 - Meningioma - - - Preferential parent - - - - - - 150 - Nasopharyngeal carcinoma - - - Preferential parent - - - - - - 2905 - POEMS syndrome - - - Preferential parent - - - - - - 2969 - Proteus-like syndrome - - - Preferential parent - - - - - - 144 - Lynch syndrome - - - Preferential parent - - - - - - 542 - Primary cutaneous lymphoma - - - Preferential parent - - - - - - 145 - Hereditary breast and/or ovarian cancer syndrome - - - Preferential parent - - - - - - 2584 - Classic mycosis fungoides - - - Preferential parent - - - - - - 3162 - Sézary syndrome - - - Preferential parent - - - - - - 2086 - Optic pathway glioma - - - Preferential parent - - - - - - 2023 - Undifferentiated pleomorphic sarcoma - - - Preferential parent - - - - - - 618 - Familial melanoma - - - Preferential parent - - - - - - 519 - Acute myeloid leukemia - - - Preferential parent - - - - - - 521 - Chronic myeloid leukemia - - - Preferential parent - - - - - - 1333 - Familial pancreatic carcinoma - - - Preferential parent - - - - - - 1501 - Adrenocortical carcinoma - - - Preferential parent - - - - - - 513 - Acute lymphoblastic leukemia - - - Preferential parent - - - - - - 1957 - Esthesioneuroblastoma - - - Preferential parent - - - - - - 2030 - Fibrosarcoma - - - Preferential parent - - - - - - 2126 - Solitary fibrous tumor - - - Preferential parent - - - - - - 3148 - Malignant peripheral nerve sheath tumor - - - Preferential parent - - - - - - 3273 - Synovial sarcoma - - - Preferential parent - - - - - - 391 - Classic Hodgkin lymphoma - - - Preferential parent - - - - - - 543 - Burkitt lymphoma - - - Preferential parent - - - - - - 541 - Primary cutaneous CD30+ T-cell lymphoproliferative disease - - - Preferential parent - - - - - - 301 - Ependymal tumor - - - Preferential parent - - - - - - 616 - Medulloblastoma - - - Preferential parent - - - - - - 360 - Glioblastoma - - - Preferential parent - - - - - - 94 - Astrocytoma - - - Preferential parent - - - - - - 668 - Osteosarcoma - - - Preferential parent - - - - - - 319 - Skeletal Ewing sarcoma - - - Preferential parent - - - - - - 876 - Yolk sac tumor - - - Preferential parent - - - - - - 883 - Extragonadal teratoma - - - Preferential parent - - - - - - 842 - Testicular seminomatous germ cell tumor - - - Preferential parent - - - - - - 3398 - Thymic epithelial neoplasm - - - Preferential parent - - - - - - 547 - Non-Hodgkin lymphoma - - - Preferential parent - - - - - - 3399 - Germ cell tumor - - - Preferential parent - - - - - - 3394 - Soft tissue sarcoma - - - Preferential parent - - - - - - 178 - Chordoma - - - Preferential parent - - - - - - 520 - Acute promyelocytic leukemia - - - Preferential parent - - - - - - 517 - Acute myelomonocytic leukemia - - - Preferential parent - - - - - - 514 - Acute monoblastic/monocytic leukemia - - - Preferential parent - - - - - - 318 - Acute erythroid leukemia - - - Preferential parent - - - - - - 518 - Acute megakaryoblastic leukemia - - - Preferential parent - - - - - - 874 - Primary adult heart tumor - - - Preferential parent - - - - - - 875 - Primary pediatric heart tumor - - - Preferential parent - - - - - - 122 - Birt-Hogg-Dubé syndrome - - - Preferential parent - - - - - - 523 - Hereditary leiomyomatosis and renal cell cancer - - - Preferential parent - - - - - - 873 - Desmoid tumor - - - Preferential parent - - - - - - 143 - Parathyroid carcinoma - - - Preferential parent - - - - - - 142 - Anaplastic thyroid carcinoma - - - Preferential parent - - - - - - 877 - Neuroendocrine neoplasm - - - Preferential parent - - - - - - 1332 - Medullary thyroid carcinoma - - - Preferential parent - - - - - - 824 - Primary myelofibrosis - - - Preferential parent - - - - - - 544 - Diffuse large B-cell lymphoma - - - Preferential parent - - - - - - 545 - Follicular lymphoma - - - Preferential parent - - - - - - 26106 - Hereditary diffuse gastric cancer - - - Preferential parent - - - - - - 26790 - Pseudomyxoma peritonei - - - Preferential parent - - - - - - 29073 - Multiple myeloma - - - Preferential parent - - - - - - 31112 - Dermatofibrosarcoma protuberans - - - Preferential parent - - - - - - 33111 - Granulomatous slack skin - - - Preferential parent - - - - - - 33226 - Waldenström macroglobulinemia - - - Preferential parent - - - - - - 33276 - Kaposi sarcoma - - - Preferential parent - - - - - - 33402 - Pediatric hepatocellular carcinoma - - - Preferential parent - - - - - - 35807 - Malignant germ cell tumor of ovary - - - Preferential parent - - - - - - 35808 - Malignant sex cord stromal tumor of ovary - - - Preferential parent - - - - - - 36273 - Gastric linitis plastica - - - Preferential parent - - - - - - 39044 - Uveal melanoma - - - Preferential parent - - - - - - 68336 - Rare genetic tumor - - - Preferential parent - - - - - - 68347 - Tumor of hematopoietic and lymphoid tissues - - - Preferential parent - - - - - - 68411 - Rare bone tumor - - - Preferential parent - - - - - - 44890 - Gastrointestinal stromal tumor - - - Preferential parent - - - - - - 46135 - Primary central nervous system lymphoma - - - Preferential parent - - - - - - 46484 - Oligodendroglial tumor - - - Preferential parent - - - - - - 47044 - Hereditary papillary renal cell carcinoma - - - Preferential parent - - - - - - 48686 - Primary effusion lymphoma - - - Preferential parent - - - - - - 48736 - Embryonal carcinoma of the central nervous system - - - Preferential parent - - - - - - 50251 - Pleural mesothelioma - - - Preferential parent - - - - - - 52416 - Mantle cell lymphoma - - - Preferential parent - - - - - - 52417 - MALT lymphoma - - - Preferential parent - - - - - - 52688 - Myelodysplastic syndrome - - - Preferential parent - - - - - - 52994 - Orbital leiomyoma - - - Preferential parent - - - - - - 54272 - Hepatocellular adenoma - - - Preferential parent - - - - - - 55880 - Chondrosarcoma - - - Preferential parent - - - - - - 55881 - Adamantinoma - - - Preferential parent - - - - - - 56044 - Carcinoma of gallbladder and extrahepatic biliary tract - - - Preferential parent - - - - - - 58017 - Classic hairy cell leukemia - - - Preferential parent - - - - - - 58040 - Osteoblastoma - - - Preferential parent - - - - - - 59305 - Gestational trophoblastic neoplasm - - - Preferential parent - - - - - - 63443 - Rare epithelial tumor of stomach - - - Preferential parent - - - - - - 64720 - Leiomyosarcoma - - - Preferential parent - - - - - - 64741 - Pulmonary blastoma - - - Preferential parent - - - - - - 64742 - Pleuropulmonary blastoma - - - Preferential parent - - - - - - 66627 - Tenosynovial giant cell tumor - - - Preferential parent - - - - - - 66661 - Mast cell sarcoma - - - Preferential parent - - - - - - 66662 - Extracutaneous mastocytoma - - - Preferential parent - - - - - - 67037 - Squamous cell carcinoma of head and neck - - - Preferential parent - - - - - - 67038 - B-cell chronic lymphocytic leukemia - - - Preferential parent - - - - - - 69077 - Rhabdoid tumor - - - Preferential parent - - - - - - 69078 - Liposarcoma - - - Preferential parent - - - - - - 70482 - Carcinoma of esophagus - - - Preferential parent - - - - - - 70567 - Cholangiocarcinoma - - - Preferential parent - - - - - - 70568 - Post-transplant lymphoproliferative disease - - - Preferential parent - - - - - - 70573 - Small cell lung cancer - - - Preferential parent - - - - - - 71209 - Rare soft tissue tumor - - - Preferential parent - - - - - - 71274 - Disseminated peritoneal leiomyomatosis - - - Preferential parent - - - - - - 79105 - Myxofibrosarcoma - - - Preferential parent - - - - - - 79140 - Cutaneous neuroendocrine carcinoma - - - Preferential parent - - - - - - 83469 - Desmoplastic small round cell tumor - - - Preferential parent - - - - - - 86829 - Chronic neutrophilic leukemia - - - Preferential parent - - - - - - 86830 - Chronic myeloproliferative disease, unclassifiable - - - Preferential parent - - - - - - 86834 - Juvenile myelomonocytic leukemia - - - Preferential parent - - - - - - 86836 - Refractory cytopenia with multilineage dysplasia - - - Preferential parent - - - - - - 86839 - Myelodysplastic neoplasm with increased blasts - - - Preferential parent - - - - - - 86841 - Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality - - - Preferential parent - - - - - - 86843 - Acute panmyelosis with myelofibrosis - - - Preferential parent - - - - - - 86845 - Acute myeloid leukaemia with myelodysplasia-related features - - - Preferential parent - - - - - - 86846 - Therapy related acute myeloid leukemia and myelodysplastic syndrome - - - Preferential parent - - - - - - 86849 - Acute basophilic leukemia - - - Preferential parent - - - - - - 86850 - Myeloid sarcoma - - - Preferential parent - - - - - - 86851 - Acute leukemia of ambiguous lineage - - - Preferential parent - - - - - - 86852 - B-cell prolymphocytic leukemia - - - Preferential parent - - - - - - 86854 - Splenic marginal zone lymphoma - - - Preferential parent - - - - - - 86855 - Plasmacytoma - - - Preferential parent - - - - - - 86861 - Non-amyloid monoclonal immunoglobulin deposition disease - - - Preferential parent - - - - - - 86864 - Heavy chain disease - - - Preferential parent - - - - - - 86867 - Nodal marginal zone B-cell lymphoma - - - Preferential parent - - - - - - 86869 - Lymphomatoid granulomatosis - - - Preferential parent - - - - - - 86870 - Blastic plasmacytoid dendritic cell neoplasm - - - Preferential parent - - - - - - 86871 - T-cell prolymphocytic leukemia - - - Preferential parent - - - - - - 86872 - T-cell large granular lymphocyte leukemia - - - Preferential parent - - - - - - 86873 - Aggressive NK-cell leukemia - - - Preferential parent - - - - - - 86875 - Adult T-cell leukemia/lymphoma - - - Preferential parent - - - - - - 86879 - Extranodal nasal NK/T cell lymphoma - - - Preferential parent - - - - - - 86880 - Enteropathy-associated T-cell lymphoma - - - Preferential parent - - - - - - 86882 - Hepatosplenic T-cell lymphoma - - - Preferential parent - - - - - - 86884 - Subcutaneous panniculitis-like T-cell lymphoma - - - Preferential parent - - - - - - 86885 - Primary cutaneous peripheral T-cell lymphoma not otherwise specified - - - Preferential parent - - - - - - 86886 - Angioimmunoblastic T-cell lymphoma - - - Preferential parent - - - - - - 86893 - Nodular lymphocyte predominant Hodgkin lymphoma - - - Preferential parent - - - - - - 86896 - Histiocytic sarcoma - - - Preferential parent - - - - - - 86897 - Langerhans cell sarcoma - - - Preferential parent - - - - - - 86900 - Interdigitating dendritic cell sarcoma - - - Preferential parent - - - - - - 86902 - Follicular dendritic cell sarcoma - - - Preferential parent - - - - - - 86903 - Dendritic cell sarcoma not otherwise specified - - - Preferential parent - - - - - - 86904 - Methotrexate-associated lymphoproliferative disorders - - - Preferential parent - - - - - - 88673 - Hepatocellular carcinoma - - - Preferential parent - - - - - - 91352 - Germinoma of the central nervous system - - - Preferential parent - - - - - - 93292 - Adenoma of pancreas - - - Preferential parent - - - - - - 93556 - Heavy chain deposition disease - - - Preferential parent - - - - - - 93557 - Light and heavy chain deposition disease - - - Preferential parent - - - - - - 93558 - Light chain deposition disease - - - Preferential parent - - - - - - 93619 - Rare renal tumor - - - Preferential parent - - - - - - 97285 - Thyroid lymphoma - - - Preferential parent - - - - - - 97286 - Carney-Stratakis syndrome - - - Preferential parent - - - - - - 97287 - Bronchial neuroendocrine tumor - - - Preferential parent - - - - - - 97289 - Thymic neuroendocrine tumor - - - Preferential parent - - - - - - 97290 - Familial papillary thyroid carcinoma with renal papillary neoplasia - - - Preferential parent - - - - - - 97293 - Rare benign ovarian tumor - - - Preferential parent - - - - - - 97338 - Melanoma of soft tissue - - - Preferential parent - - - - - - 98057 - Rare tumor - - - Preferential parent - - - - - - 98058 - Rare urinary tract tumor - - - Preferential parent - - - - - - 98059 - Rare digestive tumor - - - Preferential parent - - - - - - 98060 - Rare respiratory tumor - - - Preferential parent - - - - - - 98061 - Rare otorhinolaryngologic tumor - - - Preferential parent - - - - - - 98062 - Rare nervous system tumor - - - Preferential parent - - - - - - 98063 - Rare gynecological tumor - - - Preferential parent - - - - - - 98274 - Myeloproliferative neoplasm - - - Preferential parent - - - - - - 98275 - Myelodysplastic/myeloproliferative disease - - - Preferential parent - - - - - - 98277 - Acute myeloid leukemia with recurrent genetic anomaly - - - Preferential parent - - - - - - 98282 - Plasma cell tumor - - - Preferential parent - - - - - - 98287 - Histiocytic and dendritic cell tumor - - - Preferential parent - - - - - - 98288 - Macrophage or histiocytic tumor - - - Preferential parent - - - - - - 98289 - Dendritic cell tumor - - - Preferential parent - - - - - - 98291 - Lymphoproliferative disease associated with primary immune disease - - - Preferential parent - - - - - - 98292 - Mastocytosis - - - Preferential parent - - - - - - 98293 - Hodgkin lymphoma - - - Preferential parent - - - - - - 98823 - Chronic myelomonocytic leukemia - - - Preferential parent - - - - - - 98824 - Atypical chronic myeloid leukemia - - - Preferential parent - - - - - - 98825 - Unclassified myelodysplastic/myeloproliferative disease - - - Preferential parent - - - - - - 98826 - Myelodysplastic neoplasm with low blasts - - - Preferential parent - - - - - - 98827 - Unclassified myelodysplastic syndrome - - - Preferential parent - - - - - - 98829 - Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) - - - Preferential parent - - - - - - 98831 - Acute myeloid leukemia with 11q23 abnormalities - - - Preferential parent - - - - - - 98832 - Acute myeloid leukemia with minimal differentiation - - - Preferential parent - - - - - - 98833 - Acute myeloblastic leukemia without maturation - - - Preferential parent - - - - - - 98834 - Acute myeloblastic leukemia with maturation - - - Preferential parent - - - - - - 98835 - Acute undifferentiated leukemia - - - Preferential parent - - - - - - 98838 - Primary mediastinal large B-cell lymphoma - - - Preferential parent - - - - - - 98839 - Intravascular large B-cell lymphoma - - - Preferential parent - - - - - - 98841 - Anaplastic large cell lymphoma - - - Preferential parent - - - - - - 98842 - Lymphomatoid papulosis - - - Preferential parent - - - - - - 98843 - Classic Hodgkin lymphoma, nodular sclerosis type - - - Preferential parent - - - - - - 98844 - Classic Hodgkin lymphoma, mixed cellularity type - - - Preferential parent - - - - - - 98845 - Classic Hodgkin lymphoma, lymphocyte-rich type - - - Preferential parent - - - - - - 98846 - Classic Hodgkin lymphoma, lymphocyte-depleted type - - - Preferential parent - - - - - - 98848 - Indolent systemic mastocytosis - - - Preferential parent - - - - - - 98849 - Systemic mastocytosis with associated hematologic neoplasm - - - Preferential parent - - - - - - 98850 - Aggressive systemic mastocytosis - - - Preferential parent - - - - - - 98851 - Mast cell leukemia - - - Preferential parent - - - - - - 99361 - Isolated familial medullary thyroid carcinoma - - - Preferential parent - - - - - - 99756 - Alveolar rhabdomyosarcoma - - - Preferential parent - - - - - - 99757 - Embryonal rhabdomyosarcoma - - - Preferential parent - - - - - - 99860 - Precursor B-cell acute lymphoblastic leukemia - - - Preferential parent - - - - - - 99861 - Precursor T-cell acute lymphoblastic leukemia - - - Preferential parent - - - - - - 99865 - Spermatocytic seminoma - - - Preferential parent - - - - - - 99867 - Thymoma - - - Preferential parent - - - - - - 99868 - Thymic carcinoma - - - Preferential parent - - - - - - 99869 - Thymic neuroendocrine carcinoma - - - Preferential parent - - - - - - 99887 - Acute megakaryoblastic leukemia in children with Down syndrome - - - Preferential parent - - - - - - 99912 - Ovarian dysgerminoma - - - Preferential parent - - - - - - 99913 - Extragonadal non-dysgerminomatous germ cell tumor - - - Preferential parent - - - - - - 99914 - Gynandroblastoma - - - Preferential parent - - - - - - 99915 - Malignant granulosa cell tumor of the ovary - - - Preferential parent - - - - - - 99916 - Malignant Sertoli-Leydig cell tumor of the ovary - - - Preferential parent - - - - - - 99917 - Theca steroid-producing cell malignant tumor of ovary, not further specified - - - Preferential parent - - - - - - 99925 - Invasive mole - - - Preferential parent - - - - - - 99926 - Gestational choriocarcinoma - - - Preferential parent - - - - - - 99927 - Hydatidiform mole - - - Preferential parent - - - - - - 99928 - Placental site trophoblastic tumor - - - Preferential parent - - - - - - 99933 - Pleuropulmonary blastoma type 1 - - - Preferential parent - - - - - - 99934 - Pleuropulmonary blastoma type 2 - - - Preferential parent - - - - - - 99935 - Pleuropulmonary blastoma type 3 - - - Preferential parent - - - - - - 99966 - Atypical teratoid rhabdoid tumor - - - Preferential parent - - - - - - 99967 - Myxoid/round cell liposarcoma - - - Preferential parent - - - - - - 99969 - Pleomorphic liposarcoma - - - Preferential parent - - - - - - 99970 - Dedifferentiated liposarcoma - - - Preferential parent - - - - - - 99971 - Well-differentiated liposarcoma - - - Preferential parent - - - - - - 99976 - Adenocarcinoma of the oesophagus and oesophagogastric junction - - - Preferential parent - - - - - - 99977 - Squamous cell carcinoma of the esophagus - - - Preferential parent - - - - - - 99978 - Perihilar cholangiocarcinoma - - - Preferential parent - - - - - - 100019 - Myelodysplastic neoplasm with increased blasts type 1 - - - Preferential parent - - - - - - 100020 - Myelodysplastic neoplasm with increased blasts type 2 - - - Preferential parent - - - - - - 100021 - Primary plasmacytoma of the bone - - - Preferential parent - - - - - - 100022 - Extramedullary soft tissue plasmacytoma - - - Preferential parent - - - - - - 100024 - Mu-heavy chain disease - - - Preferential parent - - - - - - 100025 - Alpha-heavy chain disease - - - Preferential parent - - - - - - 100026 - Gamma-heavy chain disease - - - Preferential parent - - - - - - 100075 - Neuroendocrine tumor of stomach - - - Preferential parent - - - - - - 100076 - Duodenal neuroendocrine tumor - - - Preferential parent - - - - - - 100077 - Jejunal neuroendocrine tumor - - - Preferential parent - - - - - - 100078 - Ileal neuroendocrine tumor - - - Preferential parent - - - - - - 100079 - Neuroendocrine neoplasm of appendix - - - Preferential parent - - - - - - 100080 - Neuroendocrine tumor of the colon - - - Preferential parent - - - - - - 100081 - Neuroendocrine tumor of the rectum - - - Preferential parent - - - - - - 100082 - Neuroendocrine tumor of anal canal - - - Preferential parent - - - - - - 100083 - Laryngeal neuroendocrine tumor - - - Preferential parent - - - - - - 100084 - Middle ear neuroendocrine tumor - - - Preferential parent - - - - - - 100085 - Primary hepatic neuroendocrine carcinoma - - - Preferential parent - - - - - - 100086 - Gallbladder neuroendocrine tumor - - - Preferential parent - - - - - - 100087 - Rare thyroid tumor - - - Preferential parent - - - - - - 100088 - Rare thyroid carcinoma - - - Preferential parent - - - - - - 100090 - Rare parathyroid tumor - - - Preferential parent - - - - - - 100091 - Adrenal/paraganglial tumor - - - Preferential parent - - - - - - 100092 - Gastroenteropancreatic neuroendocrine neoplasm - - - Preferential parent - - - - - - 100093 - Carcinoid syndrome - - - Preferential parent - - - - - - 100094 - Multiple polyglandular tumor - - - Preferential parent - - - - - - 100100 - Thymic tumor - - - Preferential parent - - - - - - 100101 - Neuroendocrine tumor with other location - - - Preferential parent - - - - - - 101943 - Rare hepatic and biliary tract tumor - - - Preferential parent - - - - - - 101945 - Rare bronchopulmonary and pleural cavity tumors - - - Preferential parent - - - - - - 101950 - Rare eye tumor - - - Preferential parent - - - - - - 102024 - Human herpesvirus 8-related disorder - - - Preferential parent - - - - - - 102379 - Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent - - - Preferential parent - - - - - - 102381 - Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor - - - Preferential parent - - - - - - 102724 - Acute myeloid leukemia with t(8;21)(q22;q22) translocation - - - Preferential parent - - - - - - 104011 - Rare tumor of intestine - - - Preferential parent - - - - - - 104075 - Adenocarcinoma of the small intestine - - - Preferential parent - - - - - - 104076 - Leiomyosarcoma of small intestine - - - Preferential parent - - - - - - 137583 - Vulvar intraepithelial neoplasia - - - Preferential parent - - - - - - 139411 - Carney triad - - - Preferential parent - - - - - - 140162 - Inherited cancer-predisposing syndrome - - - Preferential parent - - - - - - 141115 - Nasal ganglioglioma - - - Preferential parent - - - - - - 157826 - Congenital epulis - - - Preferential parent - - - - - - 158775 - Smoldering systemic mastocytosis - - - Preferential parent - - - - - - 158778 - Isolated bone marrow mastocytosis - - - Preferential parent - - - - - - 163699 - Alveolar soft tissue sarcoma - - - Preferential parent - - - - - - 164726 - Acute myeloid leukemia and myelodysplastic syndromes related to radiation - - - Preferential parent - - - - - - 167714 - Unclassified acute myeloid leukemia - - - Preferential parent - - - - - - 168194 - Rare cardiac tumor - - - Preferential parent - - - - - - 168803 - Primary peritoneal tumor - - - Preferential parent - - - - - - 168807 - Primary malignant peritoneal tumor - - - Preferential parent - - - - - - 168811 - Malignant peritoneal mesothelioma - - - Preferential parent - - - - - - 168816 - Peritoneal inclusion cyst - - - Preferential parent - - - - - - 168829 - Primary peritoneal carcinoma - - - Preferential parent - - - - - - 168940 - Chronic eosinophilic leukemia - - - Preferential parent - - - - - - 168943 - Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 - - - Preferential parent - - - - - - 168947 - Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement - - - Preferential parent - - - - - - 168950 - Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement - - - Preferential parent - - - - - - 168953 - Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement - - - Preferential parent - - - - - - 168960 - Refractory anemia with excess blasts in transformation - - - Preferential parent - - - - - - 168966 - Composite lymphoma - - - Preferential parent - - - - - - 168999 - Malignant melanoma of the mucosa - - - Preferential parent - - - - - - 171895 - Myeloid hemopathy - - - Preferential parent - - - - - - 171898 - Lymphoid hemopathy - - - Preferential parent - - - - - - 171901 - Primary cutaneous T-cell lymphoma - - - Preferential parent - - - - - - 171915 - B-cell non-Hodgkin lymphoma - - - Preferential parent - - - - - - 171918 - T-cell non-Hodgkin lymphoma - - - Preferential parent - - - - - - 178315 - Undifferentiated embryonal sarcoma of the liver - - - Preferential parent - - - - - - 178342 - Inflammatory myofibroblastic tumor - - - Preferential parent - - - - - - 178512 - Folliculotropic mycosis fungoides - - - Preferential parent - - - - - - 178517 - Localized pagetoid reticulosis - - - Preferential parent - - - - - - 178522 - Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma - - - Preferential parent - - - - - - 178528 - Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma - - - Preferential parent - - - - - - 178533 - Primary cutaneous gamma/delta-positive T-cell lymphoma - - - Preferential parent - - - - - - 178536 - Primary cutaneous marginal zone B-cell lymphoma - - - Preferential parent - - - - - - 178540 - Primary cutaneous follicle center lymphoma - - - Preferential parent - - - - - - 178544 - Primary cutaneous diffuse large B-cell lymphoma, leg type - - - Preferential parent - - - - - - 178548 - Indolent primary cutaneous T-cell lymphoma - - - Preferential parent - - - - - - 178551 - Aggressive primary cutaneous T-cell lymphoma - - - Preferential parent - - - - - - 178554 - Aggressive primary cutaneous B-cell lymphoma - - - Preferential parent - - - - - - 178557 - Indolent primary cutaneous B-cell lymphoma - - - Preferential parent - - - - - - 178563 - Primary cutaneous B-cell lymphoma - - - Preferential parent - - - - - - 178566 - Mycosis fungoides and variants - - - Preferential parent - - - - - - 180220 - Rare uterine adnexal tumor - - - Preferential parent - - - - - - 180226 - Embryonal carcinoma - - - Preferential parent - - - - - - 180229 - Polyembryoma - - - Preferential parent - - - - - - 180234 - Mixed germ cell tumor - - - Preferential parent - - - - - - 180237 - Benign tumor of fallopian tubes - - - Preferential parent - - - - - - 180242 - Malignant tumor of fallopian tubes - - - Preferential parent - - - - - - 180247 - Vaginal carcinoma - - - Preferential parent - - - - - - 180250 - Rare breast tumor - - - Preferential parent - - - - - - 180253 - Rare benign breast tumor - - - Preferential parent - - - - - - 180257 - Rare malignant breast tumor - - - Preferential parent - - - - - - 180261 - Phyllodes tumor of the breast - - - Preferential parent - - - - - - 180267 - Giant adenofibroma of the breast - - - Preferential parent - - - - - - 180275 - Paget disease of the nipple - - - Preferential parent - - - - - - 180312 - Rare vulvovaginal tumor - - - Preferential parent - - - - - - 180821 - Rare gastroesophageal tumor - - - Preferential parent - - - - - - 180824 - Rare tumor of pancreas - - - Preferential parent - - - - - - 182067 - Glial tumor - - - Preferential parent - - - - - - 182114 - Rare urogenital tumor - - - Preferential parent - - - - - - 182127 - Extragonadal germinoma - - - Preferential parent - - - - - - 182130 - Tumor of endocrine glands - - - Preferential parent - - - - - - 183487 - Genetic skin tumor or hamartoma - - - Preferential parent - - - - - - 183595 - Genetic renal tumor - - - Preferential parent - - - - - - 183734 - Genetic gynecological tumor - - - Preferential parent - - - - - - 199260 - Calcifying aponeurotic fibroma - - - Preferential parent - - - - - - 199267 - Infantile digital fibromatosis - - - Preferential parent - - - - - - 206470 - Cystadenoma of childhood - - - Preferential parent - - - - - - 206484 - Gonadoblastoma - - - Preferential parent - - - - - - 206489 - Malignant germ cell tumor of the vagina - - - Preferential parent - - - - - - 206492 - Vulvovaginal rhabdomyosarcoma - - - Preferential parent - - - - - - 206538 - Malignant non-dysgerminomatous germ cell tumor of ovary - - - Preferential parent - - - - - - 206982 - Muscular tumor - - - Preferential parent - - - - - - 207046 - Malignant lymphoma with peripheral neuropathy - - - Preferential parent - - - - - - 209019 - Solid tumor associated with an acquired peripheral neuropathy - - - Preferential parent - - - - - - 209916 - Extraskeletal myxoid chondrosarcoma - - - Preferential parent - - - - - - 210159 - Adult hepatocellular carcinoma - - - Preferential parent - - - - - - 213500 - Rare ovarian cancer - - - Preferential parent - - - - - - 213504 - Adenocarcinoma of ovary - - - Preferential parent - - - - - - 213512 - Malignant mixed Müllerian tumor of the ovary - - - Preferential parent - - - - - - 213528 - Rare adenocarcinoma of the breast - - - Preferential parent - - - - - - 213531 - Metaplastic carcinoma of the breast - - - Preferential parent - - - - - - 213557 - Salivary gland type cancer of the breast - - - Preferential parent - - - - - - 213564 - Rare uterine cancer - - - Preferential parent - - - - - - 213569 - Rare cancer of corpus uteri - - - Preferential parent - - - - - - 213589 - Malignant mixed epithelial and mesenchymal tumor of corpus uteri - - - Preferential parent - - - - - - 213600 - Adenosarcoma of the corpus uteri - - - Preferential parent - - - - - - 213605 - Carcinofibroma of the corpus uteri - - - Preferential parent - - - - - - 213610 - Carcinosarcoma of the corpus uteri - - - Preferential parent - - - - - - 213615 - Rhabdomyosarcoma of the corpus uteri - - - Preferential parent - - - - - - 213620 - Sarcoma of the corpus uteri - - - Preferential parent - - - - - - 213625 - Leiomyosarcoma of the corpus uteri - - - Preferential parent - - - - - - 213630 - Primitive neuroectodermal tumor of the corpus uteri - - - Preferential parent - - - - - - 213711 - Endometrial stromal sarcoma - - - Preferential parent - - - - - - 213716 - Squamous cell carcinoma of the corpus uteri - - - Preferential parent - - - - - - 213721 - Undifferentiated carcinoma of the corpus uteri - - - Preferential parent - - - - - - 213726 - Serous carcinoma of the corpus uteri - - - Preferential parent - - - - - - 213731 - High-grade neuroendocrine carcinoma of the corpus uteri - - - Preferential parent - - - - - - 213736 - Low-grade neuroendocrine tumor of the corpus uteri - - - Preferential parent - - - - - - 213746 - Transitional cell carcinoma of the corpus uteri - - - Preferential parent - - - - - - 213751 - Malignant germ cell tumor of the corpus uteri - - - Preferential parent - - - - - - 213761 - Rare cancer of cervix uteri - - - Preferential parent - - - - - - 213767 - Squamous cell carcinoma of the cervix uteri - - - Preferential parent - - - - - - 213772 - Adenocarcinoma of the cervix uteri - - - Preferential parent - - - - - - 213777 - High-grade neuroendocrine carcinoma of the cervix uteri - - - Preferential parent - - - - - - 213782 - Malignant mixed epithelial and mesenchymal tumor of cervix uteri - - - Preferential parent - - - - - - 213787 - Carcinosarcoma of the cervix uteri - - - Preferential parent - - - - - - 213792 - Adenosarcoma of the cervix uteri - - - Preferential parent - - - - - - 213797 - Sarcoma of cervix uteri - - - Preferential parent - - - - - - 213802 - Rhabdomyosarcoma of the cervix uteri - - - Preferential parent - - - - - - 213807 - Leiomyosarcoma of the cervix uteri - - - Preferential parent - - - - - - 213812 - Primitive neuroectodermal tumor of the cervix uteri - - - Preferential parent - - - - - - 213823 - Adenoid cystic carcinoma of the cervix uteri - - - Preferential parent - - - - - - 213828 - Adenoid basal carcinoma of the cervix uteri - - - Preferential parent - - - - - - 213833 - Glassy cell carcinoma of the cervix uteri - - - Preferential parent - - - - - - 213837 - Malignant germ cell tumor of the cervix uteri - - - Preferential parent - - - - - - 217071 - Renal cell carcinoma - - - Preferential parent - - - - - - 217074 - Rare carcinoma of pancreas - - - Preferential parent - - - - - - 223727 - Bone sarcoma - - - Preferential parent - - - - - - 223735 - Lymphoma - - - Preferential parent - - - - - - 227535 - Hereditary breast cancer - - - Preferential parent - - - - - - 231108 - Rhabdoid tumor predisposition syndrome - - - Preferential parent - - - - - - 247203 - Collecting duct carcinoma - - - Preferential parent - - - - - - 247698 - Multiple endocrine neoplasia type 2A - - - Preferential parent - - - - - - 247709 - Multiple endocrine neoplasia type 2B - - - Preferential parent - - - - - - 247762 - Lipoblastoma - - - Preferential parent - - - - - - 251558 - Rare tumor of neuroepithelial tissue - - - Preferential parent - - - - - - 251561 - High-grade astrocytoma - - - Preferential parent - - - - - - 251576 - Gliosarcoma - - - Preferential parent - - - - - - 251579 - Giant cell glioblastoma - - - Preferential parent - - - - - - 251582 - Gliomatosis cerebri - - - Preferential parent - - - - - - 251589 - Anaplastic astrocytoma - - - Preferential parent - - - - - - 251592 - Low-grade astrocytoma - - - Preferential parent - - - - - - 251595 - Diffuse astrocytoma - - - Preferential parent - - - - - - 251598 - Protoplasmic astrocytoma - - - Preferential parent - - - - - - 251601 - Fibrillary astrocytoma - - - Preferential parent - - - - - - 251604 - Gemistocytic astrocytoma - - - Preferential parent - - - - - - 251607 - Pleomorphic xanthoastrocytoma - - - Preferential parent - - - - - - 251612 - Pilocytic astrocytoma - - - Preferential parent - - - - - - 251615 - Pilomyxoid astrocytoma - - - Preferential parent - - - - - - 251618 - Subependymal giant cell astrocytoma - - - Preferential parent - - - - - - 251623 - Pituicytoma - - - Preferential parent - - - - - - 251627 - Oligodendroglioma - - - Preferential parent - - - - - - 251630 - Anaplastic oligodendroglioma - - - Preferential parent - - - - - - 251636 - Ependymoma - - - Preferential parent - - - - - - 251639 - Subependymoma - - - Preferential parent - - - - - - 251643 - Myxopapillary ependymoma - - - Preferential parent - - - - - - 251646 - Anaplastic ependymoma - - - Preferential parent - - - - - - 251651 - Oligoastrocytic tumor - - - Preferential parent - - - - - - 251656 - Oligoastrocytoma - - - Preferential parent - - - - - - 251663 - Anaplastic oligoastrocytoma - - - Preferential parent - - - - - - 251668 - Glial tumor of neuroepithelial tissue with unknown origin - - - Preferential parent - - - - - - 251671 - Angiocentric glioma - - - Preferential parent - - - - - - 251674 - Chordoid glioma - - - Preferential parent - - - - - - 251679 - Astroblastoma - - - Preferential parent - - - - - - 251852 - Embryonal tumor of neuroepithelial tissue - - - Preferential parent - - - - - - 251855 - Anaplastic/large cell medulloblastoma - - - Preferential parent - - - - - - 251858 - Medulloblastoma with extensive nodularity - - - Preferential parent - - - - - - 251863 - Desmoplastic/nodular medulloblastoma - - - Preferential parent - - - - - - 251867 - Classic medulloblastoma - - - Preferential parent - - - - - - 251870 - Central nervous system embryonal tumor - - - Preferential parent - - - - - - 251877 - Ganglioneuroblastoma - - - Preferential parent - - - - - - 251896 - Choroid plexus tumor - - - Preferential parent - - - - - - 251899 - Choroid plexus carcinoma - - - Preferential parent - - - - - - 251902 - Atypical papilloma of choroid plexus - - - Preferential parent - - - - - - 251905 - Pineal tumor of neuroepithelial tissue - - - Preferential parent - - - - - - 251909 - Pineoblastoma - - - Preferential parent - - - - - - 251912 - Pineocytoma - - - Preferential parent - - - - - - 251915 - Papillary tumor of the pineal region - - - Preferential parent - - - - - - 251919 - Pineal parenchymal tumor of intermediate differentiation - - - Preferential parent - - - - - - 251924 - Neuronal tumor - - - Preferential parent - - - - - - 251927 - Extraventricular neurocytoma - - - Preferential parent - - - - - - 251931 - Cerebellar liponeurocytoma - - - Preferential parent - - - - - - 251934 - Mixed neuronal-glial tumor - - - Preferential parent - - - - - - 251937 - Gangliocytoma - - - Preferential parent - - - - - - 251940 - Desmoplastic infantile astrocytoma/ganglioglioma - - - Preferential parent - - - - - - 251946 - Dysembryoplastic neuroepithelial tumor - - - Preferential parent - - - - - - 251949 - Ganglioglioma - - - Preferential parent - - - - - - 251957 - Anaplastic ganglioglioma - - - Preferential parent - - - - - - 251962 - Papillary glioneuronal tumor - - - Preferential parent - - - - - - 251975 - Rosette-forming glioneuronal tumor - - - Preferential parent - - - - - - 251992 - Ganglioneuroma - - - Preferential parent - - - - - - 251995 - Primary germ cell tumor of central nervous system - - - Preferential parent - - - - - - 252006 - Yolk sac tumor of central nervous system - - - Preferential parent - - - - - - 252015 - Choriocarcinoma of the central nervous system - - - Preferential parent - - - - - - 252018 - Teratoma of the central nervous system - - - Preferential parent - - - - - - 252021 - Mixed germ cell tumor of central nervous system - - - Preferential parent - - - - - - 252025 - Tumor of meninges - - - Preferential parent - - - - - - 252028 - Primary melanocytic tumor of central nervous system - - - Preferential parent - - - - - - 252031 - Diffuse leptomeningeal melanocytosis - - - Preferential parent - - - - - - 252046 - Meningeal melanocytoma - - - Preferential parent - - - - - - 252050 - Primary melanoma of the central nervous system - - - Preferential parent - - - - - - 252054 - Hemangioblastoma - - - Preferential parent - - - - - - 252057 - Tumor of cranial and spinal nerves - - - Preferential parent - - - - - - 252128 - Malignant peripheral nerve sheath tumor with perineurial differentiation - - - Preferential parent - - - - - - 252131 - Benign peripheral nerve sheath tumor - - - Preferential parent - - - - - - 252164 - Benign schwannoma - - - Preferential parent - - - - - - 252175 - Vestibular schwannoma - - - Preferential parent - - - - - - 252183 - Neurofibroma - - - Preferential parent - - - - - - 252212 - Malignant triton tumor - - - Preferential parent - - - - - - 254685 - Gestational trophoblastic disease - - - Preferential parent - - - - - - 254688 - Complete hydatidiform mole - - - Preferential parent - - - - - - 254693 - Partial hydatidiform mole - - - Preferential parent - - - - - - 254698 - Epithelioid trophoblastic tumor - - - Preferential parent - - - - - - 263310 - Thymoma type A - - - Preferential parent - - - - - - 263317 - Thymoma type B - - - Preferential parent - - - - - - 263324 - Thymoma type AB - - - Preferential parent - - - - - - 263331 - Well-differentiated thymic neuroendocrine carcinoma - - - Preferential parent - - - - - - 263335 - Moderately-differentiated thymic neuroendocrine carcinoma - - - Preferential parent - - - - - - 263339 - Poorly differentiated thymic neuroendocrine carcinoma - - - Preferential parent - - - - - - 263413 - Angiosarcoma - - - Preferential parent - - - - - - 268139 - Intraocular medulloepithelioma - - - Preferential parent - - - - - - 271844 - Genetic urogenital tumor - - - Preferential parent - - - - - - 271847 - Genetic neuroendocrine tumor - - - Preferential parent - - - - - - 276142 - Rare tumor of salivary glands - - - Preferential parent - - - - - - 276145 - Malignant epithelial tumor of salivary glands - - - Preferential parent - - - - - - 276152 - Multiple endocrine neoplasia type 4 - - - Preferential parent - - - - - - 276161 - Multiple endocrine neoplasia - - - Preferential parent - - - - - - 279897 - Primary oculocerebral lymphoma - - - Preferential parent - - - - - - 279904 - Primary intraocular lymphoma - - - Preferential parent - - - - - - 279911 - Primary organ-specific lymphoma - - - Preferential parent - - - - - - 284343 - DICER1 tumor-predisposition syndrome - - - Preferential parent - - - - - - 284362 - Fetal lung interstitial tumor - - - Preferential parent - - - - - - 284395 - Well-differentiated fetal adenocarcinoma of the lung - - - Preferential parent - - - - - - 284400 - Small cell carcinoma of the bladder - - - Preferential parent - - - - - - 289356 - Primary non-gestational choriocarcinoma of ovary - - - Preferential parent - - - - - - 289362 - Non-central nervous system-localized embryonal carcinoma - - - Preferential parent - - - - - - 289539 - BAP1-related tumor predisposition syndrome - - - Preferential parent - - - - - - 289635 - Rare virus associated tumor - - - Preferential parent - - - - - - 289638 - Epstein-Barr Virus-related tumor - - - Preferential parent - - - - - - 289644 - Epstein-Barr virus-associated malignant lymphoproliferative disorder - - - Preferential parent - - - - - - 289651 - Epstein-Barr Virus-associated carcinoma - - - Preferential parent - - - - - - 289656 - Epstein-Barr Virus-associated mesenchymal tumor - - - Preferential parent - - - - - - 289661 - Epstein-Barr virus-positive diffuse large B-cell lymphoma - - - Preferential parent - - - - - - 289666 - Plasmablastic lymphoma - - - Preferential parent - - - - - - 289682 - Lymphoepithelial-like carcinoma - - - Preferential parent - - - - - - 289685 - Myopericytoma - - - Preferential parent - - - - - - 290849 - Rare head and neck tumor - - - Preferential parent - - - - - - 293199 - Pleomorphic rhabdomyosarcoma - - - Preferential parent - - - - - - 293202 - Epithelioid sarcoma - - - Preferential parent - - - - - - 293822 - MITF-related melanoma and renal cell carcinoma predisposition syndrome - - - Preferential parent - - - - - - 300385 - Pituitary carcinoma - - - Preferential parent - - - - - - 300501 - Painful orbital and systemic neurofibromas-marfanoid habitus syndrome - - - Preferential parent - - - - - - 300504 - Onychocytic matricoma - - - Preferential parent - - - - - - 300512 - Onychomatricoma - - - Preferential parent - - - - - - 300515 - Rare nail tumor - - - Preferential parent - - - - - - 300557 - Carcinoma of the ampulla of Vater - - - Preferential parent - - - - - - 300842 - Indolent B-cell non-Hodgkin lymphoma - - - Preferential parent - - - - - - 300846 - Aggressive B-cell non-Hodgkin lymphoma - - - Preferential parent - - - - - - 300849 - Diffuse large B-cell lymphoma of the central nervous system - - - Preferential parent - - - - - - 300857 - T-cell/histiocyte rich large B cell lymphoma - - - Preferential parent - - - - - - 300865 - Primary cutaneous anaplastic large cell lymphoma - - - Preferential parent - - - - - - 300869 - Splenic diffuse red pulp small B-cell lymphoma - - - Preferential parent - - - - - - 300878 - Hairy cell leukemia variant - - - Preferential parent - - - - - - 300888 - Diffuse large B-cell lymphoma with chronic inflammation - - - Preferential parent - - - - - - 300895 - ALK-positive anaplastic large cell lymphoma - - - Preferential parent - - - - - - 300903 - ALK-negative anaplastic large cell lymphoma - - - Preferential parent - - - - - - 300912 - Marginal zone lymphoma - - - Preferential parent - - - - - - 304055 - Pituitary tumor - - - Preferential parent - - - - - - 306498 - PTEN hamartoma tumor syndrome - - - Preferential parent - - - - - - 306633 - Rare tumor of gallbladder and extrahepatic biliary tract - - - Preferential parent - - - - - - 306636 - Rare tumor of liver and intrahepatic biliary tract - - - Preferential parent - - - - - - 313920 - Epstein-Barr virus-associated gastric carcinoma - - - Preferential parent - - - - - - 314022 - Gastric adenocarcinoma and proximal polyposis of the stomach - - - Preferential parent - - - - - - 314419 - Ameloblastoma - - - Preferential parent - - - - - - 314422 - Ameloblastic carcinoma - - - Preferential parent - - - - - - 314451 - Meigs syndrome - - - Preferential parent - - - - - - 314459 - Pseudo-Meigs syndrome - - - Preferential parent - - - - - - 314466 - Atypical Meigs syndrome - - - Preferential parent - - - - - - 314473 - Ovarian fibroma - - - Preferential parent - - - - - - 314478 - Ovarian fibrothecoma - - - Preferential parent - - - - - - 314613 - Growing teratoma syndrome - - - Preferential parent - - - - - - 314684 - Primary bone lymphoma - - - Preferential parent - - - - - - 319276 - Clear cell renal carcinoma - - - Preferential parent - - - - - - 319287 - Multilocular cystic renal neoplasm of low malignant potential - - - Preferential parent - - - - - - 319298 - Papillary renal cell carcinoma - - - Preferential parent - - - - - - 319303 - Chromophobe renal cell carcinoma - - - Preferential parent - - - - - - 319308 - MiT family translocation renal cell carcinoma - - - Preferential parent - - - - - - 319319 - Renal medullary carcinoma - - - Preferential parent - - - - - - 319322 - Mucinous tubular and spindle cell renal carcinoma - - - Preferential parent - - - - - - 319325 - Tubulocystic renal cell carcinoma - - - Preferential parent - - - - - - 319462 - Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations - - - Preferential parent - - - - - - 319465 - Inherited acute myeloid leukemia - - - Preferential parent - - - - - - 319480 - Acute myeloid leukemia with CEBPA somatic mutations - - - Preferential parent - - - - - - 319487 - Familial papillary or follicular thyroid carcinoma - - - Preferential parent - - - - - - 319494 - Familial nonmedullary thyroid carcinoma - - - Preferential parent - - - - - - 322126 - Genetic tumor of hematopoietic and lymphoid tissues - - - Preferential parent - - - - - - 329469 - Acute megakaryoblastic leukemia in children without Down syndrome - - - Preferential parent - - - - - - 329977 - Classic neuroendocrine tumor of appendix - - - Preferential parent - - - - - - 329984 - Goblet cell carcinoma - - - Preferential parent - - - - - - 357027 - Hereditary retinoblastoma - - - Preferential parent - - - - - - 357034 - Non-hereditary retinoblastoma - - - Preferential parent - - - - - - 363472 - Tumor of testis and paratestis - - - Preferential parent - - - - - - 363478 - Paratesticular adenocarcinoma - - - Preferential parent - - - - - - 363483 - Testicular teratoma - - - Preferential parent - - - - - - 363489 - Sex cord-stromal tumor of testis - - - Preferential parent - - - - - - 363494 - Non-seminomatous germ cell tumor of testis - - - Preferential parent - - - - - - 363504 - Germ cell tumor of testis - - - Preferential parent - - - - - - 363579 - Extragonadal germ cell tumor - - - Preferential parent - - - - - - 363582 - Gonadal germ cell tumor - - - Preferential parent - - - - - - 363976 - Giant cell tumor of bone - - - Preferential parent - - - - - - 364033 - Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood - - - Preferential parent - - - - - - 364039 - Hydroa vacciniforme-like lymphoma - - - Preferential parent - - - - - - 364043 - ALK-positive large B-cell lymphoma - - - Preferential parent - - - - - - 370026 - Acute myeloid leukemia with t(8;16)(p11;p13) translocation - - - Preferential parent - - - - - - 370334 - Extraskeletal Ewing sarcoma - - - Preferential parent - - - - - - 370348 - Peripheral primitive neuroectodermal tumor - - - Preferential parent - - - - - - 370396 - Small cell carcinoma of the ovary - - - Preferential parent - - - - - - 391651 - Glomus tumor - - - Preferential parent - - - - - - 391723 - Mucinous adenocarcinoma of the appendix - - - Preferential parent - - - - - - 398043 - Malignant tumor of penis - - - Preferential parent - - - - - - 398053 - Adenocarcinoma of the penis - - - Preferential parent - - - - - - 398058 - Squamous cell carcinoma of the penis - - - Preferential parent - - - - - - 398934 - Malignant epithelial tumor of ovary - - - Preferential parent - - - - - - 398940 - Malignant non-epithelial tumor of ovary - - - Preferential parent - - - - - - 398961 - Mucinous adenocarcinoma of ovary - - - Preferential parent - - - - - - 398971 - Clear cell adenocarcinoma of the ovary - - - Preferential parent - - - - - - 398987 - Malignant teratoma of ovary - - - Preferential parent - - - - - - 401920 - Fibrolamellar hepatocellular carcinoma - - - Preferential parent - - - - - - 402014 - Acute myeloid leukemia with t(6;9)(p23;q34) - - - Preferential parent - - - - - - 402017 - Acute myeloid leukemia with t(9;11)(p22;q23) - - - Preferential parent - - - - - - 402020 - Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) - - - Preferential parent - - - - - - 402023 - Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) - - - Preferential parent - - - - - - 402026 - Acute myeloid leukemia with NPM1 somatic mutations - - - Preferential parent - - - - - - 404511 - Clear cell papillary renal cell carcinoma - - - Preferential parent - - - - - - 404514 - Acquired cystic disease-associated renal cell carcinoma - - - Preferential parent - - - - - - 404560 - Familial atypical multiple mole melanoma syndrome - - - Preferential parent - - - - - - 418945 - Carcinoma of esophagus, salivary gland type - - - Preferential parent - - - - - - 418951 - Undifferentiated carcinoma of esophagus - - - Preferential parent - - - - - - 418959 - Squamous cell carcinoma of the stomach - - - Preferential parent - - - - - - 422526 - Hereditary clear cell renal cell carcinoma - - - Preferential parent - - - - - - 423771 - Rare carcinoma of stomach - - - Preferential parent - - - - - - 423776 - Hereditary gastric cancer - - - Preferential parent - - - - - - 423786 - Undifferentiated carcinoma of stomach - - - Preferential parent - - - - - - 423793 - Rare tumor of small intestine - - - Preferential parent - - - - - - 423798 - Mesenchymal tumor of small intestine - - - Preferential parent - - - - - - 423957 - Rare carcinoma of small intestine - - - Preferential parent - - - - - - 423968 - Squamous cell carcinoma of the small intestine - - - Preferential parent - - - - - - 423975 - Neuroendocrine tumor of the small intestine - - - Preferential parent - - - - - - 423982 - Epithelial tumor of the appendix - - - Preferential parent - - - - - - 423991 - Rare epithelial tumor of colon - - - Preferential parent - - - - - - 423994 - Squamous cell carcinoma of the colon - - - Preferential parent - - - - - - 423998 - Rare epithelial tumor of rectum - - - Preferential parent - - - - - - 424002 - Squamous cell carcinoma of the rectum - - - Preferential parent - - - - - - 424010 - Epithelial tumor of anal canal - - - Preferential parent - - - - - - 424013 - Carcinoma of the anal canal - - - Preferential parent - - - - - - 424016 - Adenocarcinoma of the anal canal - - - Preferential parent - - - - - - 424019 - Squamous cell carcinoma of the anal canal - - - Preferential parent - - - - - - 424033 - Rare epithelial tumor of pancreas - - - Preferential parent - - - - - - 424039 - Squamous cell carcinoma of pancreas - - - Preferential parent - - - - - - 424046 - Acinar cell carcinoma of pancreas - - - Preferential parent - - - - - - 424053 - Mucinous cystadenocarcinoma of the pancreas - - - Preferential parent - - - - - - 424058 - Intraductal papillary mucinous carcinoma of pancreas - - - Preferential parent - - - - - - 424065 - Pancreatic solid pseudopapillary neoplasm - - - Preferential parent - - - - - - 424073 - Serous cystadenocarcinoma of pancreas - - - Preferential parent - - - - - - 424080 - Undifferentiated carcinoma with osteoclast-like giant cells of pancreas - - - Preferential parent - - - - - - 424933 - Rare malignant epithelial tumor of liver and intrahepatic biliary tract - - - Preferential parent - - - - - - 424936 - Carcinoma of liver and intrahepatic biliary tract - - - Preferential parent - - - - - - 424943 - Adenocarcinoma of the liver and intrahepatic biliary tract - - - Preferential parent - - - - - - 424970 - Undifferentiated carcinoma of liver and intrahepatic biliary tract - - - Preferential parent - - - - - - 424975 - Squamous cell carcinoma of liver and intrahepatic biliary tract - - - Preferential parent - - - - - - 424982 - Biliary cystadenocarcinoma - - - Preferential parent - - - - - - 424991 - Adenocarcinoma of the gallbladder and extrahepatic biliary tract - - - Preferential parent - - - - - - 424996 - Squamous cell carcinoma of gallbladder and extrahepatic biliary tract - - - Preferential parent - - - - - - 425368 - Rare epithelial tumor of small intestine - - - Preferential parent - - - - - - 440437 - Familial colorectal cancer Type X - - - Preferential parent - - - - - - 443159 - Lymphoplasmacytic lymphoma without IgM production - - - Preferential parent - - - - - - 443167 - NUT midline carcinoma - - - Preferential parent - - - - - - 443291 - HIV-associated cancer - - - Preferential parent - - - - - - 443909 - Hereditary nonpolyposis colon cancer - - - Preferential parent - - - - - - 454714 - Plasma cell leukemia - - - Preferential parent - - - - - - 454723 - Endometrioid carcinoma of ovary - - - Preferential parent - - - - - - 456333 - Hereditary neuroendocrine tumor of small intestine - - - Preferential parent - - - - - - 457246 - Clear cell sarcoma of kidney - - - Preferential parent - - - - - - 458758 - Composite hemangioendothelioma - - - Preferential parent - - - - - - 458763 - Retiform hemangioendothelioma - - - Preferential parent - - - - - - 458768 - Papillary intralymphatic angioendothelioma - - - Preferential parent - - - - - - 464329 - Kaposiform lymphangiomatosis - - - Preferential parent - - - - - - 464756 - Familial gastric type 1 neuroendocrine tumor - - - Preferential parent - - - - - - 466962 - SMARCA4-deficient sarcoma of thorax - - - Preferential parent - - - - - - 480541 - High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement - - - Preferential parent - - - - - - 481508 - Gastroenteric neuroendocrine neoplasm - - - Preferential parent - - - - - - 488280 - 14q32 duplication syndrome - - - Preferential parent - - - - - - 488647 - DDX41-related hematologic malignancy predisposition syndrome - - - Preferential parent - - - - - - 494418 - Vulvar carcinoma - - - Preferential parent - - - - - - 494448 - Vulvar squamous cell carcinoma - - - Preferential parent - - - - - - 494451 - Vulvar basal cell carcinoma - - - Preferential parent - - - - - - 494454 - Vulvar adenocarcinoma - - - Preferential parent - - - - - - 494547 - Squamous cell carcinoma of the hypopharynx - - - Preferential parent - - - - - - 494550 - Squamous cell carcinoma of the larynx - - - Preferential parent - - - - - - 495930 - Familial monosomy 7 syndrome - - - Preferential parent - - - - - - 497188 - Diffuse intrinsic pontine glioma - - - Preferential parent - - - - - - 498228 - Phyllodes tumor of the prostate - - - Preferential parent - - - - - - 500464 - Squamous cell carcinoma of the nasal cavity and paranasal sinuses - - - Preferential parent - - - - - - 500478 - Squamous cell carcinoma of the oropharynx - - - Preferential parent - - - - - - 502363 - Squamous cell carcinoma of the oral cavity - - - Preferential parent - - - - - - 502366 - Squamous cell carcinoma of the lip - - - Preferential parent - - - - - - 502369 - Squamous cell carcinoma of oral cavity and lip - - - Preferential parent - - - - - - 506052 - Neuroendocrine neoplasm of pancreas - - - Preferential parent - - - - - - 506060 - Functioning neuroendocrine tumor of pancreas - - - Preferential parent - - - - - - 506075 - Non-functioning neuroendocrine tumor of pancreas - - - Preferential parent - - - - - - 506090 - Serotonin-producing neuroendocrine tumor of pancreas - - - Preferential parent - - - - - - 506098 - Neuroendocrine carcinoma of pancreas - - - Preferential parent - - - - - - 506112 - Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas - - - Preferential parent - - - - - - 506136 - Neuroendocrine neoplasm of esophagus - - - Preferential parent - - - - - - 512017 - Chronic lymphoproliferative disorder of natural killer cells - - - Preferential parent - - - - - - 512034 - Large granular lymphocyte leukemia - - - Preferential parent - - - - - - 529468 - Monoclonal mast cell activation syndrome - - - Preferential parent - - - - - - 529852 - Combined hepatocellular carcinoma and cholangiocarcinoma - - - Preferential parent - - - - - - 530792 - RELA fusion-positive ependymoma - - - Preferential parent - - - - - - 530995 - Mixed phenotype acute leukemia - - - Preferential parent - - - - - - 538756 - Familial multiple discoid fibromas - - - Preferential parent - - - - - - 563666 - Serous cystadenoma of childhood - - - Preferential parent - - - - - - 563671 - Mucinous cystadenoma of childhood - - - Preferential parent - - - - - - 563676 - Seromucinous cystadenoma of childhood - - - Preferential parent - - - - - - 566393 - Acute mast cell leukemia - - - Preferential parent - - - - - - 566396 - Chronic mast cell leukemia - - - Preferential parent - - - - - - 566841 - Liver adenomatosis - - - Preferential parent - - - - - - 569164 - Angiomatoid fibrous histiocytoma - - - Preferential parent - - - - - - 569248 - Microcystic stromal tumor - - - Preferential parent - - - - - - 580572 - Intraductal tubulopapillary neoplasm of pancreas - - - Preferential parent - - - - - - 585867 - Acute myeloid leukemia with t(9;22)(q34.1;q11.2) - - - Preferential parent - - - - - - 585877 - B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality - - - Preferential parent - - - - - - 585909 - B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) - - - Preferential parent - - - - - - 585918 - B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) - - - Preferential parent - - - - - - 585929 - B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) - - - Preferential parent - - - - - - 585936 - B-lymphoblastic leukemia/lymphoma with hyperdiploidy - - - Preferential parent - - - - - - 585942 - B-lymphoblastic leukemia/lymphoma with hypodiploidy - - - Preferential parent - - - - - - 585948 - B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) - - - Preferential parent - - - - - - 585956 - B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) - - - Preferential parent - - - - - - 589534 - Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) - - - Preferential parent - - - - - - 589542 - Myeloid/lymphoid neoplasm associated with JAK2 rearrangement - - - Preferential parent - - - - - - 589595 - Mixed phenotype acute leukemia with t(v;11q23.3) - - - Preferential parent - - - - - - 590539 - Isolated melanotic schwannoma - - - Preferential parent - - - - - - 595133 - Perivascular epithelioid cell neoplasm - - - Preferential parent - - - - - - 598216 - Upper tract urothelial carcinoma - - - Preferential parent - - - - - - 617910 - Conjunctival malignant melanoma - - - Preferential parent - - - - - - 619340 - Inherited hematologic cancer-predisposing syndrome - - - Preferential parent - - - - - - 626609 - Rare andrological tumor - - - Preferential parent - - - - - - 631251 - Cancer of unknown primary site - - - Preferential parent - - - - - - 641372 - B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) - - - Preferential parent - - - - - - 641375 - B-lymphoblastic leukemia/lymphoma with t(17;19) - - - Preferential parent - - - - - - 652650 - Nodal T-follicular helper cell lymphoma, follicular type - - - Preferential parent - - - - - - 652658 - Monomorphic epitheliotropic intestinal T-cell lymphoma - - - Preferential parent - - - - - - 656417 - Embryonal tumor with multilayered rosettes - - - Preferential parent - - - - - - 658590 - Eyelid sebaceous carcinoma - - - Preferential parent - - - - - - 659744 - Ocular surface squamous neoplasia - - - Preferential parent - - - - - - 661526 - MBD4-related tumor predisposition syndrome - - - Preferential parent - - - - - - 662934 - Acute megakaryoblastic leukemia in adult - - - Preferential parent - - - - - - 664450 - Inherited cancer-predisposing lymphoproliferative syndrome - - - Preferential parent - - - - - - 667662 - Breast implant-associated anaplastic large cell lymphoma - - - Preferential parent - - - - - - 667678 - Intraoral basal cell carcinoma - - - Preferential parent - - - - - - 673538 - Littoral cell hemangioma of the spleen - - - Preferential parent - - - - - - 673543 - Papillary hemangioma - - - Preferential parent - - - - - - 673556 - Pseudomyogenic hemangioendothelioma - - - Preferential parent - - - - - - 673574 - Reactive angioendotheliomatosis - - - Preferential parent - - - - - - 673580 - Classic pilocytic astrocytoma - - - Preferential parent - - - - - - 673585 - Pilocytic astrocytoma with histological features of anaplasia - - - Preferential parent - - - - - - 675359 - Anastomosing haemangioma - - - Preferential parent - - - - - - 675396 - Epithelioid hemangioma - - - Preferential parent - - - - - - 675775 - Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome - - - Preferential parent - - - - - - 675814 - Adenomatoid tumour of the pleura - - - Preferential parent - - - - - - 675822 - Well-differentiated papillary mesothelial tumour of the pleura - - - Preferential parent - - - - - - 675833 - Localized pleural mesothelioma - - - Preferential parent - - - - - - 675837 - Diffused pleural mesothelioma - - - Preferential parent - - - - - - 675841 - Pleural mesothelioma in situ - - - Preferential parent - - - - - - 675976 - Adenomatoid tumour of the peritoneum - - - Preferential parent - - - - - - 676030 - Primary benign peritoneal tumor - - - Preferential parent - - - - - - 676033 - Well-differentiated papillary mesothelial tumour of the peritoneum - - - Preferential parent - - - - - - 676036 - Peritoneal mesothelioma in situ - - - Preferential parent - - - - - - 685004 - Primary pericardial mesothelioma - - - Preferential parent - - - - - - 685010 - Mesothelioma of the tunica vaginalis - - - Preferential parent - - - - - - 694963 - Inflammatory breast cancer - - - Preferential parent - - - - - - 695020 - Urachal carcinoma - - - Preferential parent - - - - - - 695023 - Pure squamous carcinoma of the urothelial tract - - - Preferential parent - - - - - - 695136 - Infant-type hemispheric glioma - - - Preferential parent - - - - - - 695631 - Primary vitreoretinal large B-cell lymphoma - - - Preferential parent - - - - - - 696078 - Central Giant Cell Granuloma - - - Preferential parent - - - - - - 696830 - Female adnexal tumor of probable Wolffian origin - - - Preferential parent - - - - - - 2252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252 - Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 - Pancreatic hypoplasia-diabetes-congenital heart disease syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 250932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 251380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 - Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306 - Isotretinoin-like syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 - Isotretinoin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 - Sickle cell S-D Punjab disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 251375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 - Sickle cell S-E disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 251359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359 - Sickle cell-beta-thalassemia disease syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 251365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 - Sickle cell S-C disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 - Familial articular hypermobility syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 251535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251535 - Maternal disease-related embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 - Juberg-Hayward syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251558 - Rare tumor of neuroepithelial tissue - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 251523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 - Hyperzincemia and hypercalprotectinemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 - Johnson neuroectodermal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251529 - Toxic or drug-related embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 - 46,XY partial gonadal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515 - Distal arthrogryposis type 10 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310 - Absence deformity of leg-cataract syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 - Pachyonychia congenita - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 251393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 - Localized junctional epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 - IVIC syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295 - Pigmented paravenous retinochoroidal atrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 251290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 - Parietal foramina with clavicular hypoplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287 - Benign concentric annular macular dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 251282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282 - Autosomal dominant spastic ataxia type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 251279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 251274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 - Familial hyperaldosteronism type III - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 251262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 - Familial osteochondritis dissecans - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291 - Congenital velopharyngeal incompetence - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 251332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251332 - Unexplained long-lasting fever/inflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 251328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251328 - Unclassified vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 - Neuronal intranuclear inclusion disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 251325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251325 - Drug-induced vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 - Microvillus inclusion disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 2287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287 - Fused mandibular incisors - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 251312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251312 - Overlapping connective tissue disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285 - Primary basilar invagination - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 251307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251307 - Idiopathic recurrent pericarditis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 251304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304 - Infantile onset panniculitis with uveitis and systemic granulomatosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 254843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843 - Exercise intolerance with lactic acidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 - Cyprus facial-neuromusculoskeletal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846 - Isolated oxidative phosphorylation complex disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837 - Unspecified mitochondrial disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 - Neurofaciodigitorenal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2672 - Neuhauser-Eichner-Opitz syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 254857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 - Lethal infantile mitochondrial myopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678 - Familial isolated café-au-lait macules - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 254864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 - Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851 - Mitochondrial DNA-related dystonia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854 - Pure mitochondrial myopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668 - Nephropathy-deafness-hyperparathyroidism syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 254807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807 - Multiple mitochondrial DNA deletion syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 - Nathalie syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818 - Ataxia neuropathy spectrum - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 - Keipert syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830 - Mitochondrial substrate carrier disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834 - Mitochondrial protein import disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 - Pierson syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 254822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822 - Mitochondrial oxidative phosphorylation disorder with no known mechanism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827 - Mitochondrial membrane transport disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 - Combined oxidative phosphorylation defect type 4 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 - Combined oxidative phosphorylation defect type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 - Bifid nose - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 - Isolated ATP synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 255132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 - Adult-onset autosomal recessive sideroblastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 - Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699 - Median nodule of the upper lip - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 - Autosomal recessive progressive external ophthalmoplegia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 - Spinocerebellar ataxia with epilepsy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 - Mitochondrial DNA depletion syndrome, hepatocerebral form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 - Isolated cytochrome C oxidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 - Renal tubulopathy-encephalopathy-liver failure syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 - Neutropenia-monocytopenia-deafness syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 - Autosomal dominant progressive external ophthalmoplegia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 - Oculoosteocutaneous syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 - Severe oculo-renal-cerebellar syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 - Oculotrichodysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 - Urofacial syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 255210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 - Mitochondrial DNA-associated Leigh syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 255229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 - Navajo neurohepatopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709 - Oculodental syndrome, Rutherfurd type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 - Blepharophimosis-intellectual disability syndrome, Ohdo type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730 - Postaxial tetramelic oligodactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732 - Olivopontocerebellar atrophy-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733 - Omodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 - Odonto-onycho-dermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 - Odonto-onycho dysplasia-alopecia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 - Odontotrichomelic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724 - Odontomatosis-aortae esophagus stenosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 260305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305 - Autosomal recessive sideroblastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 252164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252164 - Benign schwannoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 252128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252128 - Malignant peripheral nerve sheath tumor with perineurial differentiation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 252131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252131 - Benign peripheral nerve sheath tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252057 - Tumor of cranial and spinal nerves - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252050 - Primary melanoma of the central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 252054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252054 - Hemangioblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741 - Ophthalmomandibulomelic dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 252031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252031 - Diffuse leptomeningeal melanocytosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252046 - Meningeal melanocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252025 - Tumor of meninges - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252028 - Primary melanocytic tumor of central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018 - Teratoma of the central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 - Congenital central hypoventilation syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 - Lethal omphalocele-cleft palate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 252021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021 - Mixed germ cell tumor of central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 254367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254367 - Rare lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 - Autosomal recessive distal osteolysis syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 - Osteomesopyknosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 - Plectin-related limb-girdle muscular dystrophy R17 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 - Multicentric carpo-tarsal osteolysis with or without nephropathy - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351 - Distal 7q11.23 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769 - Familial osteodysplasia, Anderson type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346 - 19p13.12 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767 - Carpotarsal osteochondromatosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768 - Blount disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 - Progressive osseous heteroplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 252212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212 - Malignant triton tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 - Osteocraniostenosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 252206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206 - Melanoma and neural system tumor syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 252202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 - Constitutional mismatch repair deficiency syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759 - Imperforate oropharynx-costovertebral anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 - OSLAM syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 252190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252190 - Inherited nervous system cancer-predisposing syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 252183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252183 - Neurofibroma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 252175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175 - Vestibular schwannoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 254516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 - Temple syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 - Otoonychoperoneal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 - Otofaciocervical syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 - Kagami-Ogata syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 - Pachygyria-intellectual disability-epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 - Pachydermoperiostosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254478 - Lichen planus pemphigoides - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 - Lateral meningocele syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492 - Frontal fibrosing alopecia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 - Otodental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504 - Inhalational botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 - Endosteal hyperostosis, Worth type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509 - Iatrogenic botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 254411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254411 - Annular atrophic lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 254424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254424 - Annular lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 - Autosomal dominant osteopetrosis type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254449 - Atrophic lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786 - Osteoporosis-oculocutaneous hypopigmentation syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254463 - Lichen planus pigmentosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 254370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254370 - Rare cutaneous lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 - Osteopathia striata-cranial sclerosis syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254373 - Rare mucosal lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 - Osteopathia striata-pigmentary dermopathy-white forelock syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 254379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254379 - Linear lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 254395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254395 - Actinic lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 - Autosomal recessive malignant osteopetrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815 - Spastic paraparesis-deafness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 254767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767 - Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758 - Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 254788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788 - Mitochondrial DNA-related mitochondrial myopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 - Spastic paraplegia-glaucoma-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 254776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776 - Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808 - Laryngeal abductor paralysis - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 2809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809 - Familial recurrent peripheral facial palsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 254749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749 - Tricarboxylic acid cycle disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812 - Parana hard skin syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 254746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746 - Pyruvate metabolism disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 - Partial pancreatic agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698 - Epithelioid trophoblastic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 254693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693 - Partial hydatidiform mole - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675 - Annular pancreas - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807 - Papilloma of choroid plexus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 254704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704 - Genetic hyperferritinemia without iron overload - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 254534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688 - Complete hydatidiform mole - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 - W syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 254685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254685 - Gestational trophoblastic disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491 - Müllerian duct anomalies-limb anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 - Syndactyly type 8 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 - Metachondromatosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 - Mesomelia-synostoses syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497 - Upper limb mesomelic dysplasia, type Fryns - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 - Acrogeria - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 - Metaphyseal chondrodysplasia, Spahr type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 - Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 - Multiple benign circumferential skin creases on limbs - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 - Microbrachycephaly-ptosis-cleft lip syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261766 - Partial deletion of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261781 - Partial deletion of chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516 - Microcephaly-cardiac defect-lung malsegmentation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261786 - Partial deletion of chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261771 - Partial deletion of chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261776 - Partial deletion of chromosome 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513 - Microcephaly-albinism-digital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261801 - Partial deletion of chromosome 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261806 - Partial deletion of chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261791 - Partial deletion of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 261796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261796 - Partial deletion of chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261821 - Partial deletion of the long arm of chromosome 12 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261826 - Partial deletion of chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261811 - Partial deletion of chromosome 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261816 - Partial deletion of chromosome 11 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 - Microcephaly-cervical spine fusion anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261836 - Partial deletion of chromosome 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261831 - Partial deletion of chromosome 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261846 - Partial deletion of chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 - Microcephaly-microcornea syndrome, Seemanova type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261841 - Partial deletion of chromosome 19 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261866 - Partial deletion of the short arm of chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261857 - Partial deletion of the short arm of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261884 - Partial deletion of the short arm of chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 - Microcephaly-deafness-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261875 - Partial deletion of the short arm of chromosome 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261902 - Partial deletion of the short arm of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536 - Microcornea-glaucoma-absent frontal sinuses syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261893 - Partial deletion of the short arm of chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261920 - Partial deletion of the short arm of chromosome 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261911 - Partial deletion of the short arm of chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261938 - Partial deletion of the short arm of chromosome 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261929 - Partial deletion of the short arm of chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261956 - Partial deletion of the short arm of chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261947 - Partial deletion of the short arm of chromosome 11 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261965 - Partial deletion of the short arm of chromosome 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 - Oculoauriculovertebral spectrum with radial defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261974 - Partial deletion of the short arm of chromosome 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261983 - Partial deletion of the short arm of chromosome 19 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261992 - Partial deletion of the short arm of chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262001 - Partial deletion of the long arm of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262010 - Partial deletion of the long arm of chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262019 - Partial deletion of the long arm of chromosome 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262029 - Partial deletion of the long arm of chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262038 - Partial deletion of the long arm of chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558 - Mikati-Najjar-Sahli syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262047 - Partial deletion of the long arm of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 - Mietens syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 - Pyramidal molars-abnormal upper lip syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262056 - Partial deletion of the long arm of chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262065 - Partial deletion of the long arm of chromosome 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 - Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564 - Tetramelic monodactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262074 - Partial deletion of the long arm of chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262083 - Partial deletion of the long arm of chromosome 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563 - MOMO syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262092 - Partial deletion of the long arm of chromosome 11 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262101 - Partial deletion of the long arm of chromosome 13 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565 - Mononen-Karnes-Senac syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574 - Moynahan syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 - Muckle-Wells syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 - Spastic ataxia-corneal dystrophy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 - Moyamoya disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570 - Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571 - X-linked immunoneurologic disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 261183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183 - 15q11.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 - Ataxia-pancytopenia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 261120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120 - 14q11.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112 - Monosomy 9p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579 - Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 261102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102 - Distal 7q11.23 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576 - Mulibrey nanism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236 - 16p13.11 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 - N syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243 - 16p13.11 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 - Distal 16p11.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 - Tubular aggregate myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 261229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229 - 14q11.2 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 261204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204 - 16p11.2p12.2 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 - Myoclonus-cerebellar ataxia-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211 - 16p11.2p12.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 - Myhre syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 - Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197 - Proximal 16p11.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295 - 20p12.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304 - Paternal 20q13.2q13.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279 - 17q23.1q23.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290 - Trisomy 17p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617 - Microcephalic primordial dwarfism, Montreal type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265 - 17q12 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272 - 17q12 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 - 3M syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 261250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250 - 16q24.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 - Nail-patella-like renal disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 261257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257 - Distal 17p13.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344 - Trisomy 1q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337 - Distal 22q11.2 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 - Xp21 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349 - 2p15p16.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318 - Trisomy 20p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311 - 20q13.33 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 - Geleophysic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 261330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330 - Distal 22q11.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524 - Paternal uniparental disomy of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 - Fibular aplasia-complex brachydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519 - Maternal uniparental disomy of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534 - 49,XXXYY syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529 - Ring chromosome Y syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494 - Kleefstra syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483 - Xq27.3q28 duplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 - Langer mesomelic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633 - Mesomelic dysplasia, Nievergelt type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 261501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501 - Atypical Norrie disease due to Xp11.3 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634 - Mesomelic dwarfism, Reinhardt-Pfeiffer type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 - Osteoglosphonic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 261552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 - Lenz-Majewski hyperostotic dwarfism - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 - Okihiro syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 261652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 - Kleefstra syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200 - 14q22q23 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263793 - Uniparental disomy of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263783 - Partial duplication of the long arm of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263775 - Partial duplication of the short arm of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263768 - Partial duplication of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 - Monoamine oxidase A deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263756 - Partial deletion of the long arm of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263749 - X and Y chromosomal anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263746 - Y chromosome number anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 - X-linked intellectual disability-seizures-psoriasis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263731 - Partial deletion of the short arm of the chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263726 - Partial deletion of chromosome X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263723 - Polysomy of X chromosome syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263720 - X chromosome number anomaly with male phenotype syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263714 - X chromosome number anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 263717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263717 - X chromosome number anomaly with female phenotype syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 - Intellectual disability-balding-patella luxation-acromicria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263708 - Complex chromosomal rearrangement syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263665 - NK-cell enteropathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 3035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035 - Growth delay-hydrocephaly-lung hypoplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662 - Familial multiple meningioma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034 - Delayed membranous cranial ossification - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 263548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 - Peeling skin syndrome type A - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033 - Renal tubular dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 - Peeling skin syndrome type B - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 263534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 - Acral peeling skin syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 263543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543 - Generalized peeling skin syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 263516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 - Progressive myoclonic epilepsy type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 263524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524 - Acute necrotizing encephalopathy of childhood - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 - Radial ray hypoplasia-choanal atresia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 263482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 - Spondyloepimetaphyseal dysplasia, Maroteaux type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 - RAPADILINO syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263479 - Fuchs heterochromic iridocyclitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 - External auditory canal atresia-vertical talus-hypertelorism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 - COG5-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 263458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458 - Hyperinsulinism due to INSR deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 263455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 - Congenital hyperinsulinism due to HNF4A deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 - Osteosclerotic bone dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3018 - Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 263432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432 - Nevus of Ito - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 263425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425 - Nevus of Ota - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 - Radio-renal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 - Neuroacanthocytosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 263435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435 - Congenital smooth muscle hamartoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016 - Absent radius-anogenital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 - Qazi-Markouizos syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 - Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 - Rabson-Mendenhall syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 263413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413 - Angiosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003 - Pyknoachondrogenesis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 263335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335 - Moderately-differentiated thymic neuroendocrine carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 263339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339 - Poorly differentiated thymic neuroendocrine carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 - Pyle disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 263347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 - MRCS syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 263352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352 - Postcardiotomy right ventricular failure - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 3004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004 - Mirror polydactyly-vertebral segmentation-limbs defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263310 - Thymoma type A - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997 - Ptosis-vocal cord paralysis syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 263317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263317 - Thymoma type B - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 263324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263324 - Thymoma type AB - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 - Ptosis-strabismus-ectopic pupils syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 263331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331 - Well-differentiated thymic neuroendocrine carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 - Autosomal recessive multiple pterygium syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 263297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987 - Antecubital pterygium syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 - Pseudoprogeria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2989 - Familial pterygium of the conjunctiva - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 2988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988 - Pterygium colli-intellectual disability-digital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262995 - Partial duplication of the long arm of chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262986 - Partial duplication of the long arm of chromosome 19 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262977 - Partial duplication of the long arm of chromosome 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262968 - Partial duplication of the long arm of chromosome 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145 - Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 3143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143 - Autoimmune polyendocrinopathy type 2 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 263004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263004 - Partial duplication of the long arm of chromosome 22 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262923 - Partial duplication of the long arm of chromosome 11 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 - Say-Barber-Miller syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262914 - Partial duplication of the long arm of chromosome 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262905 - Partial duplication of the long arm of chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130 - Satoyoshi syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 262896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262896 - Partial duplication of the long arm of chromosome 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262959 - Partial duplication of the long arm of chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262950 - Partial duplication of the long arm of chromosome 15 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262941 - Partial duplication of the long arm of chromosome 14 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262932 - Partial duplication of the long arm of chromosome 13 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121 - Ruvalcaba syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262842 - Partial duplication of the long arm of chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262851 - Partial duplication of the long arm of chromosome 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262833 - Partial duplication of the long arm of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262878 - Partial duplication of the long arm of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262887 - Partial duplication of the long arm of chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262860 - Partial duplication of the long arm of chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262869 - Partial duplication of the long arm of chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262767 - Partial duplication/triplication of the short arm of chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262776 - Partial duplication of the short arm of chromosome 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 - Rothmund-Thomson syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262749 - Partial duplication of the short arm of chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110 - Rombo syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 262758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262758 - Partial duplication of the short arm of chromosome 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262803 - Partial duplication of the short arm of chromosome 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262812 - Partial duplication/triplication of the short arm of chromosome 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 - Roussy-Lévy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 262785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262785 - Partial duplication of the short arm of chromosome 11 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262794 - Partial duplication of the short arm of chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 262687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262687 - Partial duplication of chromosome 19 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 - Richieri Costa-Pereira syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262682 - Partial duplication/triplication of chromosome 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104 - Robin sequence-oligodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262698 - Partial duplication of the short arm of chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262692 - Partial duplication of chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262716 - Partial duplication of the short arm of chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262707 - Partial duplication of the short arm of chromosome 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262740 - Partial duplication of the short arm of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262725 - Partial duplication/triplication of the short arm of chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 - Mayer-Rokitansky-Küster-Hauser syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262643 - Partial duplication/triplication of chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262638 - Partial duplication of chromosome 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 - Autosomal dominant vitreoretinochoroidopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 262653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262653 - Partial duplication of chromosome 11 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 - Revesz syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 262648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262648 - Partial duplication of chromosome 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 - Congenital pulmonary venous return anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262658 - Partial duplication/triplication of the short arm of chromosome 12 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 - Meacham syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098 - Rhizomelic syndrome, Urbach type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 262677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262677 - Partial duplication of chromosome 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262672 - Partial duplication of chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262182 - Partial deletion of the long arm of chromosome 22 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262191 - Partial duplication of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262196 - Partial duplication of chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262201 - Partial duplication of chromosome 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 - Severe X-linked intellectual disability, Gustavson type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262206 - Partial duplication of chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 - X-linked intellectual disability-psychosis-macroorchidism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262211 - Partial duplication/triplication of chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262628 - Partial duplication of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080 - Intellectual disability, Wolff type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262633 - Partial duplication of chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079 - Intellectual disability, Buenos-Aires type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262110 - Partial deletion of the long arm of chromosome 14 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 - X-linked intellectual disability, Snyder type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262119 - Partial deletion of the long arm of chromosome 15 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262128 - Partial deletion of the long arm of chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262137 - Partial deletion of the long arm of chromosome 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262146 - Partial deletion of the long arm of chromosome 18 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 - Intellectual disability-myopathy-short stature-endocrine defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262155 - Partial deletion of the long arm of chromosome 19 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262164 - Partial deletion of the long arm of chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 262173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262173 - Partial deletion of the long arm of chromosome 21 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843 - Malformation of the neurenteric canal, spinal cord and column - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861 - Primary tethered cord syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 - Piebald trait-neurologic defects syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 - Piebaldism - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881 - Cutaneous photosensitivity-lethal colitis syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 2879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 - Phocomelia, Schinzel type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826 - Parietal encephalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829 - Basal encephalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 - Arnold-Chiari malformation type I - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 - Pilodental dysplasia-refractive errors syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891 - Pili torti-developmental delay-neurological abnormalities syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889 - Pili torti - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890 - Pili torti-onychodysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865 - Neurenteric cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888 - Pierre Robin syndrome-faciodigital anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868 - Isolated amyelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865 - Short stature-webbed neck-heart disease syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866 - Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863 - Short stature-wormian bones-dextrocardia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744 - Spinal dysraphism with a posterior meningocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 - Phakomatosis pigmentovascularis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 - Occipital encephalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876 - PHAVER syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820 - Cranial meningocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817 - Cephalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 - Phakomatosis pigmentokeratotica - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 - Myelocystocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 - Isolated posterior meningocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871 - Pfeiffer-Palm-Teller syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 - Cardiocranial syndrome, Pfeiffer type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867 - Short stature, Brussels type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868 - Short stature-valvular heart disease-characteristic facies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846 - Congenital pericardium anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 - Penoscrotal transposition - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848 - Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847 - Pericardial and diaphragmatic defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357 - Neural tube closure defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 - Renal caliceal diverticuli-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322 - Hereditary thrombocytopenia with normal platelets - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840 - Pelvic dysplasia-arthrogryposis of lower limbs syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839 - Pelvis-shoulder dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268337 - Autosomal recessive intermediate Charcot-Marie-Tooth disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363 - Open iniencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366 - Closed iniencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 - Alopecia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369 - Open spinal dysraphism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 - RAS-associated autoimmune leukoproliferative disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 - PARC syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2826 - Spastic paraplegia-precocious puberty syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 268139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268139 - Intraocular medulloepithelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 268129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 - Spheroid body myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2819 - Spastic paraplegia-facial-cutaneous lesions syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 - Spastic paraplegia-nephritis-deafness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2821 - Spastic paraplegia-neuropathy-poikiloderma syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 - Autosomal recessive spastic paraplegia type 11 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 - Pectus excavatum-macrocephaly-dysplastic nails syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 268249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249 - Mycophenolate mofetil embryopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268316 - Complication in hemodialysis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 268162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 - Intermediate maple syrup urine disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832 - Short tarsus-absence of lower eyelashes syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 - Classic maple syrup urine disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 268184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 - Thiamine-responsive maple syrup urine disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 - Stiff skin syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 268173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 - Intermittent maple syrup urine disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964 - Autosomal dominant prognathism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 - 46,XX difference of sex development-anorectal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972 - Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 - Pseudoachondroplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976 - Pseudoleprechaunism syndrome, Patterson type - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 - 46,XX difference of sex development-skeletal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980 - Acrootoocular syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 - Chronic intestinal pseudoobstruction syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 264973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264973 - Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264968 - Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 - Renal agenesis, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264949 - Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951 - Absent thumb-short stature-immunodeficiency syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264992 - Genetic interstitial lung disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947 - Triphalangeal thumbs-brachyectrodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264984 - Exposure-related interstitial lung disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978 - Drug or radiation exposure-related interstitial lung disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 - Acrodysplasia scoliosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 - Adducted thumbs-arthrogryposis syndrome, Christian type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 - Hutchinson-Gilford progeria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 - Progeria-short stature-pigmented nevi syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 - Guttmacher syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958 - X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 - Isolated polycystic liver disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 264694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264694 - Interstitial lung disease specific to infancy - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264699 - Secondary interstitial lung disease specific to childhood associated with a systemic disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264704 - Secondary interstitial lung disease specific to childhood associated with a connective tissue disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2926 - Digital extensor muscle aplasia-polyneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 264709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264709 - Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264714 - Secondary interstitial lung disease specific to childhood associated with a granulomatous disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928 - Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 264719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264719 - Secondary interstitial lung disease specific to childhood associated with a metabolic disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 - Cronkhite-Canada syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264735 - Interstitial lung disease specific to adulthood - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264740 - Primary interstitial lung disease specific to adulthood - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935 - Crossed polysyndactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264745 - Secondary interstitial lung disease specific to adulthood associated with a systemic disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934 - Polysyndactyly-cardiac malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264757 - Interstitial lung disease in childhood and adulthood - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264762 - Primary interstitial lung disease in childhood and adulthood - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264930 - Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941 - Porencephaly-cerebellar hypoplasia-internal malformations syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264935 - Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264944 - Secondary interstitial lung disease in childhood and adulthood - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 - Porencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 - Pitt-Hopkins syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 - Brachyolmia-amelogenesis imperfecta syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 2900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900 - Leri pleonosteosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264431 - Partial duplication of the short arm of chromosome 1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 - POEMS syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 264450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450 - Trisomy 8p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907 - Hereditary acrokeratotic poikiloderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 - Poland syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 264656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264656 - Interstitial lung disease specific to childhood - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916 - Postaxial polydactyly-dental and vertebral anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264670 - Primary interstitial lung disease specific to childhood due to alveolar structure disorder - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917 - Polydactyly-myopia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264665 - Primary interstitial lung disease specific to childhood - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 264683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264683 - Primary interstitial lung disease specific to childhood due to alveolar vascular disorder - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 - Hereditary pulmonary alveolar proteinosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 - Oliver syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691 - Isolated pulmonary capillaritis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921 - Preaxial polydactyly-colobomata-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 264688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688 - Congenital chylothorax - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 3374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3374 - Unilateral ocular duplication - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 275803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275803 - Pulmonary arterial hypertension associated with congenital heart disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 275808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275808 - Pulmonary arterial hypertension associated with HIV infection - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 275813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275813 - Pulmonary arterial hypertension associated with portal hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717 - Distal duplication 19q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377 - Trismus-pseudocamptodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275823 - Pulmonary arterial hypertension associated with schistosomiasis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 3368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368 - Trigonocephaly-bifid nose-acral anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 - Heritable pulmonary arterial hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 275786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786 - Drug- or toxin-induced pulmonary arterial hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 275791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275791 - Pulmonary arterial hypertension associated with another disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 3369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 - Trigonocephaly-short stature-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798 - Pulmonary arterial hypertension associated with connective tissue disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749 - Beta-thalassemia and related diseases - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 275752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752 - Sickle cell disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 - Non-syndromic metopic craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365 - Trigonocephaly-broad thumbs syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766 - Idiopathic pulmonary arterial hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 275729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275729 - Rare hemorrhagic disorder due to a constitutional thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 275736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275736 - Rare hemorrhagic disorder due to a qualitative platelet defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 3361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361 - Trichodysplasia-xeroderma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 275742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275742 - Genetic infertility - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 275745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745 - Alpha-thalassemia and related disorders - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 3408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408 - Upington disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 276148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148 - Benign epithelial tumor of salivary glands - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 3409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409 - Urban-Rogers-Meyer syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145 - Malignant epithelial tumor of salivary glands - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 276161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161 - Multiple endocrine neoplasia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 - VACTERL with hydrocephalus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 - Multiple endocrine neoplasia type 4 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 276061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276061 - Genetic frontotemporal degeneration with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3403 - Uhl anomaly - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 276058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276058 - Genetic neurodegenerative disease with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 - Ulbright-Hodes syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276142 - Rare tumor of salivary glands - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 276066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 - Bile acid CoA ligase deficiency and defective amidation - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 275872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 - Frontotemporal dementia with motor neuron disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383 - Humerus trochlea aplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384 - Common arterial trunk - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 - Behavioral variant of frontotemporal dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 275944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275944 - Hemolytic disease of the newborn with Kell alloimmunization - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 3387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387 - Isolated anterior cervical hypertrichosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388 - Neural tube defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275938 - Hemolytic disease due to fetomaternal alloimmunization - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 275837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275837 - Pulmonary hypertension owing to lung disease and/or hypoxia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723 - Mosaic trisomy 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275828 - Pulmonary arterial hypertension associated with chronic hemolytic anemia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724 - Mosaic trisomy 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275853 - Syndrome with pulmonary hypertension as a major feature - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747 - Mosaic trisomy 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275844 - Pulmonary hypertension with unclear multifactorial mechanism - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 271841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271841 - Genetic cardiac tumor - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 271832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271832 - Genetic soft tissue tumor - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 271835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271835 - Genetic digestive tract tumor - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327 - Thyrocerebrorenal syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 3326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 - Thymic-renal-anal-lung dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 - Thoracolaryngopelvic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 - Thomas syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314 - Thiemann disease, familial form - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 - Trichoodontoonychial dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275555 - Preeclampsia - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 275543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 - L1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 - Trichodermodysplasia-dental alterations syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523 - Dianzani autoimmune lymphoproliferative disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 - Trichodental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 275517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517 - Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3350 - Tremor-nystagmus-duodenal ulcer syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344 - Weismann-Netter syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3347 - Mounier-Kühn syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 3341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341 - Torticollis-keloids-cryptorchidism-renal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 271870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271870 - Rare genetic systemic or rheumatologic disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 - Arterial tortuosity syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 3339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 - Oculoectodermal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 271861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 - Hereditary ATTR amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 271853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271853 - Genetic cardiac anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 271847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271847 - Genetic neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 271844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271844 - Genetic urogenital tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469 - XK aprosencephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269567 - Genetic syndrome with a cerebellar malformation as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269570 - Genetic syndrome with a Dandy-Walker malformation as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 - Yunis-Varon syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 269573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269573 - Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471 - Young syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 3319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 - Congenital amegakaryocytic thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 3473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 - Zimmermann-Laband syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269531 - Other syndrome with a central nervous system malformation as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269546 - Syndrome with a Dandy-Walker malformation as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269550 - Genetic non-syndromic central nervous system malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 269553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269553 - Genetic cerebral malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269557 - Genetic posterior fossa malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 - WT limb-blood syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269560 - Genetic cerebellar malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3465 - Worster-Drought syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 269564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269564 - Genetic syndrome with a central nervous system malformation as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 - Oromandibular-limb hypogenesis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200 - Arthrogryposis-ectodermal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570 - Symbrachydactyly of hands and feet - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 - Sweet syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 - X-linked intellectual disability-epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 268980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 - Isolated focal cortical dysplasia type Ib - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 268987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 - Isolated focal cortical dysplasia type Ic - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 - Velo-facial-skeletal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 - Isolated focal cortical dysplasia type Ia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 269008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 - Isolated focal cortical dysplasia type IIb - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190 - Encephaloclastic disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 - Isolated focal cortical dysplasia type II - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 - Verloove Vanhorick-Brubakk syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 - Isolated focal cortical dysplasia type IIa - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 - Van den Ende-Gupta syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 - Bilateral polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 - Unilateral polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 - Hyperostosis corticalis generalisata - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 268926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926 - Midline cerebral malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936 - Isolated arhinencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 - Isolated focal cortical dysplasia type I - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 268947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 - Unilateral focal polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 - Van den Bosch syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 268950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 - Cerebral cortical dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229 - Pontine tegmental cap dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 269224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269224 - Global cerebellar malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 - Weaver-Williams syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221 - Isolated bilateral hemispheric cerebellar hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218 - Isolated unilateral hemispheric cerebellar hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456 - Wildervanck syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269528 - Syndrome with microcephaly as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269523 - Syndrome with a cerebellar malformation as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 - Congenital non-communicating hydrocephalus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 - Congenital communicating hydrocephalus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203 - Isolated cerebellar vermis agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197 - Glioependymal/ependymal cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 - MMEP syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269194 - Central nervous system cystic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 - Isolated Dandy-Walker malformation without hydrocephalus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 - Isolated Dandy-Walker malformation with hydrocephalus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209 - Isolated partial cerebellar vermis agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 269206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206 - Isolated total cerebellar vermis agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 - Spondyloperipheral dysplasia-short ulna syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 280315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280315 - Autoimmune pancreatitis type 2 - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 3181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3181 - Sprengel deformity - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302 - Autoimmune pancreatitis type 1 - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 280333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325 - Distal deletion 12p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 - Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 - Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280369 - Rare pediatric vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 - Corneodermatoosseous syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 - Autosomal semi-dominant severe lipodystrophic laminopathy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 280379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199 - Stimmler syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280373 - Rare pediatric systemic disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 - Steatocystoma multiplex-natal teeth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280342 - Rare systemic or rheumatological disease of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 - Holoprosencephaly-radial heart renal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 - Subaortic stenosis-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 - Supravalvular aortic stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 - PLIN1-related familial partial lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 - Deaf blind hypopigmentation syndrome, Yemenite type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280400 - Inherited human prion disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403 - Familial omphalocele syndrome with facial dysmorphism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 3201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 - Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 - Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 - Familial Alzheimer-like prion disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 - Deafness-enamel hypoplasia-nail defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 - Fountain syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 - Phosphoribosylpyrophosphate synthetase superactivity - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 280586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 - Chondrodysplasia with joint dislocations, gPAPP type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217 - Deafness-small bowel diverticulosis-neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 - Fatal infantile hypertonic myofibrillar myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 - Warsaw breakage syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216 - Conductive deafness-malformed external ear syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218 - Deafness-epiphyseal dysplasia-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280065 - Calciphylaxis cutis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280062 - Calciphylaxis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 279947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279947 - Postorgasmic illness syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 279943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943 - Hereditary neutrophilia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 - Sclerosteosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 279928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279928 - Paraneoplastic uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 279925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279925 - Infectious panuveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 279922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279922 - Infectious anterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 - Severe combined immunodeficiency due to LCK deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 - Omphalocele syndrome, Shprintzen-Goldberg type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168 - Sillence syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133 - Complement component 3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 - Atrial septal defect-atrioventricular conduction defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 - Senior-Loken syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 280068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280068 - Visceral calciphylaxis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180 - Spondylocamptodactyly syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 - Microform holoprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 - Spinocerebellar degeneration-corneal dystrophy syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 - Laryngotracheoesophageal cleft type 0 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 - X-linked spasticity-intellectual disability-epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172 - Eyebrow duplication-syndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 - Methylmalonic aciduria due to transcobalamin receptor defect - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 280282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 - Pelizaeus-Merzbacher-like disease due to GJC2 mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 - Pelizaeus-Merzbacher-like disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 - Spondyloenchondrodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797 - Autosomal dominant spondylocostal dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 276580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 - Cenani-Lenz syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 276598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262 - Dobrow syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585 - Diazoxide-resistant hyperinsulinism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 276608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608 - Non-insulinoma pancreatogenous hypoglycemia syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265 - Isolated humero-radial synostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266 - Isolated humero-radio-ulnar synostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621 - Sporadic pheochromocytoma/secreting paraganglioma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268 - Radioulnar synostosis-microcephaly-scoliosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 - Spondylocarpotarsal synostosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 - Apolipoprotein A-I deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 - Teebi-Shaltout syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 - Telecanthus-hypertelorism-strabismus-pes cavus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 - Tel Hashomer camptodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 279882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279882 - Spasmus nutans - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 3294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294 - Extensor tendons of finger anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 279888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279888 - Acute endophthalmitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 279891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279891 - Chronic endophthalmitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 279894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894 - Toxic maculopathy due to antimalarial drugs - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 3301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 - Tetraamelia-multiple malformations syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 279897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897 - Primary oculocerebral lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 279904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279904 - Primary intraocular lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 279911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911 - Primary organ-specific lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304 - Fallot complex-intellectual disability-growth delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 - Thalidomide embryopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 279914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279914 - Intermediate uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 279919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279919 - Infectious posterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 276198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 - Spinocerebellar ataxia type 36 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225 - Hearing loss-familial salivary gland insensitivity to aldosterone syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 276193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 - Spinocerebellar ataxia type 35 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 276183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 - Spinocerebellar ataxia type 32 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276174 - Idiopathic recurrent stupor - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 276238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 - Machado-Joseph disease type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 276234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234 - Non-syndromic male infertility due to sperm motility disorder - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 - Deafness-oligodontia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 - Machado-Joseph disease type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 276241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 - Machado-Joseph disease type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235 - Progressive deafness with stapes fixation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236 - Conductive deafness-ptosis-skeletal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232 - Deafness-ear malformation-facial palsy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233 - Cochleosaccular degeneration-cataract syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241 - Deafness-craniofacial syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399 - Familial multinodular goiter - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239 - Deafness-vitiligo-achalasia syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 3238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238 - Cardiospondylocarpofacial syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 - Multiple synostoses syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 - Symphalangism with multiple anomalies of hands and feet - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413 - 10q22.3q23.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242 - Renpenning syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 - Hyperbiliverdinemia - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 3250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 - Proximal symphalangism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248 - Isolated distal symphalangism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422 - 10q22.3q23.3 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276429 - Hypnic headache - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 276525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276525 - Familial hyperinsulinism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 - Filippi syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 - Hyperinsulinism due to UCP2 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 276432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 - Ogden syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 276435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 - Lower motor neuron syndrome with late-adult onset - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 - Combined immunodeficiency due to ZAP70 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325 - Classic heparin-induced thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 - Malonic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 - Hereditary methemoglobinemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 - Glycogen storage disease due to hepatic glycogen synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 - Dysbetalipoproteinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 - Severe hereditary thrombophilia due to congenital protein S deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 - Familial hyperthyroidism due to mutations in TSH receptor - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325 - Congenital factor II deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 - Hyperimmunoglobulinemia D with periodic fever - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 - Immunodeficiency by defective expression of MHC class II - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324 - Familial thrombomodulin anomalies - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 - Herpes simplex virus encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 202948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948 - Syndromic microphthalmia-anophthalmia-coloboma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 202940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202940 - Anomaly of puberty or/and menstrual cycle of genetic origin - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 2056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 - Essential fructosuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820 - Sneddon syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 206428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Self-limited epilepsy with centrotemporal spikes - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 - Succinyl-CoA:3-oxoacid CoA transferase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 6 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 - 3-methylcrotonyl-CoA carboxylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 20 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 - 3-hydroxy-3-methylglutaric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 - Hemolytic anemia due to glucophosphate isomerase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831 - Rhizomelic dysplasia, Patterson-Lowry type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 - Arachnodactyly-abnormal ossification-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 - Cataract-deafness-hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538 - Malignant non-dysgerminomatous germ cell tumor of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524 - Craniomicromelic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 - Anoctamin-5-related limb-girdle muscular dystrophy R12 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 - Caudal appendage-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206572 - Overlap myositis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263 - Syngnathia-cleft palate syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206569 - Immune-mediated necrotizing myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 - Autosomal recessive lower motor neuron disease with childhood onset - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206575 - Rippling muscle disease with myasthenia gravis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439 - Von Voss-Cherstvoy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 206470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206470 - Cystadenoma of childhood - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217 - Spinal atrophy-ophthalmoplegia-pyramidal syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680 - Hypomyelination neuropathy-arthrogryposis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484 - Gonadoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681 - Diprosopus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206489 - Malignant germ cell tumor of the vagina - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 206492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206492 - Vulvovaginal rhabdomyosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206701 - Bulbospinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633 - Laron syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 206662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206662 - Inclusion myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 - Kallmann syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 206710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206710 - Generalized bulbospinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206707 - Bulbospinal muscular atrophy of adult - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822 - Hereditary spherocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 206704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206704 - Bulbospinal muscular atrophy of childhood - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229 - Familial aortic dissection - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 206966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206966 - Mitochondrial myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206959 - Muscular glycogenosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 - X-linked non-syndromic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206953 - Muscular lipidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 - Hemolytic anemia due to red cell pyruvate kinase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 206976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206976 - Periodic paralysis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 28 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 - Vitamin B12-responsive methylmalonic acidemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 206973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206973 - Congenital myotonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206970 - Myotonic syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206594 - Subacute inflammatory demyelinating polyneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599 - Isolated asymptomatic elevation of creatine phosphokinase - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 - Stüve-Wiedemann syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 206586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206586 - Neurolymphomatosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206613 - Infectious disease with peripheral neuropathy - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 206638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206638 - Acquired skeletal muscle disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 65 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 - Leber congenital amaurosis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 206644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206644 - Progressive muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206634 - Genetic skeletal muscle disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206653 - Autosomal recessive distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 206656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206656 - Non-dystrophic myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647 - Myotonic dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 - Lynch syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 206650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206650 - Autosomal dominant distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207085 - Qualitative or quantitative defects of dystrophin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207090 - Qualitative or quantitative defects of collagen 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 - Atypical Rett syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207094 - Laminin subunit alpha 2-related muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 - Kallmann syndrome-heart disease syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207098 - Qualitative or quantitative defects of integrin alpha-7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207067 - Qualitative or quantitative defects of gamma-sarcoglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 - Arachnodactyly-intellectual disability-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207070 - Qualitative or quantitative defects of delta-sarcoglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207073 - Qualitative or quantitative defects of dysferlin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207078 - Qualitative or quantitative defects of caveolin-3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 - White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207049 - Qualitative or quantitative protein defects in neuromuscular diseases - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207052 - Qualitative or quantitative defects of sarcoglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207060 - Qualitative or quantitative defects of alpha-sarcoglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207063 - Qualitative or quantitative defects of beta-sarcoglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207038 - Acute and subacute inflammatory demyelinating polyneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 - Fryns-Smeets-Thiry syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 - Microgastria-limb reduction defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 - Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 207046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207046 - Malignant lymphoma with peripheral neuropathy - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 207021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207021 - Rare hereditary systemic disease with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 - Progressive non-infectious anterior vertebral fusion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207018 - Rare hereditary metabolic disease with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 - Cleft palate-short stature-vertebral anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207028 - Cerebellar ataxia with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 - Macrocephaly-short stature-paraplegia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207025 - Rare hereditary neurologic disease with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 - X-linked intellectual disability-plagiocephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207015 - Rare hereditary disease with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207012 - Spinal muscular atrophy associated with central nervous system anomaly - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 206997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206997 - Parasitic myositis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 206994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206994 - Bacterial myositis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349 - Muscular pseudohypertrophy-hypothyroidism syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 207000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207000 - Fungal myositis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 1423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423 - Lethal recessive chondrodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 206982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206982 - Muscular tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 - Hydrocephalus-obesity-hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 206991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206991 - Viral myositis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 206988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206988 - Infectious, fungal or parasitic myopathy - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 209007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209007 - Systemic inflammatory disease associated with an acquired peripheral neuropathy - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 209010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209010 - Peripheral neuropathy associated with monoclonal gammopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 - Aplasia cutis congenita - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 208999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208999 - Paraneoplastic sensory ganglionopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209004 - Polyneuropathy associated with IgM monoclonal gammopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 208989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208989 - Non-paraneoplastic sensory ganglionopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 208984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208984 - Acquired sensory ganglionopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 208974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208974 - Chronic acquired demyelinating polyneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101 - Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 208978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208978 - Chronic polyradiculoneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184 - Hydrocephaly-low insertion umbilicus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 208650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 - NLRP3-associated autoinflammatory disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779 - Dysmorphism-cleft palate-loose skin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 - Aymé-Gripp syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 208593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208593 - Genetic hypoparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 208596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208596 - Genetic hyperparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 208513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 - Spinocerebellar ataxia type 29 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 208524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208524 - Herpetiform pemphigus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485 - Arthrogryposis-hyperkeratosis syndrome, lethal form - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 208508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 - Autosomal dominant cerebellar ataxia type II - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 - Nicolaides-Baraitser syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 208444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 - Bilateral frontal polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 - Isolated arrhinia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 - Familial caudal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 207122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207122 - Qualitative or quantitative defects of fukutin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204 - Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 207119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207119 - Qualitative or quantitative defects of FKRP - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207113 - Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 - Progeroid syndrome, Petty type - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 207110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207110 - Qualitative or quantitative defects of myotubularin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207107 - Qualitative or quantitative defects of TRIM32 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619 - Brachydactylous dwarfism, Mseleni type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 207104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207104 - Qualitative or quantitative defects of calpain - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 207101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207101 - Qualitative or quantitative defects of perlecan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 - Craniosynostosis, Boston type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 - Hardikar syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 - Hirschsprung disease-ganglioneuroblastoma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335 - Autosomal dominant adult-onset proximal spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 - DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209185 - Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209188 - Qualitative or quantitative defects of emerin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167 - Siegler-Brewer-Carey syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 209193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209193 - Qualitative or quantitative defects of selenoprotein N1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209196 - Qualitative or quantitative defects of plectin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209199 - Qualitative or quantitative defects of protein SERCA1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209203 - Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209224 - Myotilinopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209044 - Qualitative or quantitative defects of alphaB-cristallin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277 - Brachydactyly-mesomelia-intellectual disability-heart defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209041 - Qualitative or quantitative defects of desmin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547 - Microphthalmia-microtia-fetal akinesia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209050 - Qualitative or quantitative defects of protein ZASP - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209047 - Qualitative or quantitative defects of filamin C - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209056 - Qualitative or quantitative defects of telethonin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209053 - Qualitative or quantitative defects of titin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209182 - Qualitative or quantitative defects of nebulin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778 - Facial dysmorphism-shawl scrotum-joint laxity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209059 - Qualitative or quantitative defects of alpha-actin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074 - Intellectual disability-short stature-hypertelorism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209016 - Hematological disease associated with an acquired peripheral neuropathy - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 209013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209013 - Acquired amyloid peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209024 - Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759 - Thoraco-abdominal enteric duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209019 - Solid tumor associated with an acquired peripheral neuropathy - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 209030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209030 - Qualitative or quantitative defects of protein O-mannosyltransferase 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209027 - Qualitative or quantitative defects of protein glycosyltransferase-like - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209038 - Qualitative or quantitative defects of myofibrillar proteins - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209033 - Qualitative or quantitative defects of protein O-mannosyltransferase 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 210110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 - Intermediate osteopetrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405 - Umbilical cord ulceration-intestinal atresia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 210115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 1884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 - Ectopia lentis-chorioretinal dystrophy-myopia syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 209981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 - IRIDA syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1459 - Celiac disease-epilepsy-cerebral calcification syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 210133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133 - Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 210136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136 - Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2582 - Myalgia-eosinophilia syndrome associated with tryptophan - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 210122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 - Congenital alveolar capillary dysplasia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 210128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 - Urocanic aciduria - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 - Pontocerebellar hypoplasia type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209959 - Phacoanaphylactic uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 209964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209964 - Solitary rectal ulcer syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 209951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 - Autosomal spastic paraplegia type 18 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956 - Idiopathic uveal effusion syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 209973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973 - Benign nocturnal alternating hemiplegia of childhood - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209978 - Alternating hemiplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 - Episodic ataxia type 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970 - Episodic ataxia type 7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2795 - Fowler urethral sphincter dysfunction syndrome - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 209908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 - Isolated childhood apraxia of speech - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666 - Adult familial nephronophthisis-spastic quadriparesia syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 209943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943 - IRVAN syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 209932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932 - Cone dystrophy with supernormal rod response - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 209919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209919 - Idiopathic copper-associated cirrhosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 209916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916 - Extraskeletal myxoid chondrosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 - Microcephaly-seizures-intellectual disability-heart disease syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 209370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 - MECP2-related severe neonatal encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 209867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867 - Autosomal dominant rhegmatogenous retinal detachment - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 210571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 - Dystonia 16 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 - Catecholaminergic polymorphic ventricular tachycardia - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 210272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210272 - Mal de débarquement - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 210159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159 - Adult hepatocellular carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283 - His bundle tachycardia - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 210163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 - Congenital lethal myopathy, Compton-North type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 - Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 210141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141 - Inherited congenital spastic tetraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 210144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144 - Lethal polymalformative syndrome, Boissel type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1546 - Cryptococcosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 67 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67 - Amoebiasis due to Entamoeba histolytica - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 210584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584 - Spindle cell hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023 - Undifferentiated pleomorphic sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 210589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210589 - Rare infantile hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 - Primary hyperoxaluria - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 210576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210576 - Congenital temporomandibular joint ankylosis - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 210581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210581 - Temporomandibular joint anomaly - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599 - Distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3392 - Tularemia - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 211240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211240 - Genetic vascular anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 - Tufted angioma - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 211237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211237 - Rare vascular tumor - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 2737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2737 - Onchocerciasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 211067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067 - Episodic ataxia type 5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3343 - Toxocariasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 211062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211062 - Hereditary episodic ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 211053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211053 - Specific language disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2034 - Filariasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 211047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211047 - Specific learning disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2583 - Mycetoma - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 211037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211037 - Autosomal dominant proximal spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1685 - Distomatosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 211017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 - Spinocerebellar ataxia type 30 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1902 - Ehrlichiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 - Hereditary steroid-resistant nephrotic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 211277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211277 - Complex vascular malformation with associated anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 211266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211266 - Rare arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655 - Nephronophthisis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 211255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211255 - Rare lymphatic system anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 211252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211252 - Rare venous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2415 - Rare lymphatic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 211247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211247 - Rare capillary malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122 - Kaposiform hemangioendothelioma - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 211243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211243 - Simple vascular malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 - Infantile myofibromatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 35 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 - Propionic acidemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 - Glycine encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968 - Leukocyte adhesion deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137 - Congenital disorder of glycosylation - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 85 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85 - Congenital dyserythropoietic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 25 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 - Glutaryl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246 - Brachydactyly-nystagmus-cerebellar ataxia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 - Familial melanoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=359 - Pediatric-onset glaucoma of genetic origin - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 - Familial partial epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 213500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213500 - Rare ovarian cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364 - Glycogen storage disease due to lactate dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213512 - Malignant mixed Müllerian tumor of the ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504 - Adenocarcinoma of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 - Cutis laxa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 42 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 - Medium chain acyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 213564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213564 - Rare uterine cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213557 - Salivary gland type cancer of the breast - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213569 - Rare cancer of corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 - Bifunctional enzyme deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 213531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531 - Metaplastic carcinoma of the breast - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528 - Rare adenocarcinoma of the breast - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 - Congenital pulmonary veins atresia or stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213605 - Carcinofibroma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213610 - Carcinosarcoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161 - Congenital pulmonary sequestration - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213589 - Malignant mixed epithelial and mesenchymal tumor of corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213600 - Adenosarcoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860 - Congenitally uncorrected transposition of the great arteries - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213625 - Leiomyosarcoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 - Scimitar syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213630 - Primitive neuroectodermal tumor of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 - Subpulmonary stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213615 - Rhabdomyosarcoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213620 - Sarcoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 - Congenital pulmonary valvar stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213721 - Undifferentiated carcinoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464 - Univentricular heart - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213726 - Serous carcinoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 - Aorto-ventricular tunnel - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213711 - Endometrial stromal sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213716 - Squamous cell carcinoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213746 - Transitional cell carcinoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213731 - High-grade neuroendocrine carcinoma of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 - Autoimmune lymphoproliferative syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 213736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213736 - Low-grade neuroendocrine tumor of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 - Perlman syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213772 - Adenocarcinoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213767 - Squamous cell carcinoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213761 - Rare cancer of cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213751 - Malignant germ cell tumor of the corpus uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213792 - Adenosarcoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213787 - Carcinosarcoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213782 - Malignant mixed epithelial and mesenchymal tumor of cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777 - High-grade neuroendocrine carcinoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213812 - Primitive neuroectodermal tumor of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747 - Autoimmune pulmonary alveolar proteinosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 213807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807 - Leiomyosarcoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213802 - Rhabdomyosarcoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 213797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213797 - Sarcoma of cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213833 - Glassy cell carcinoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213828 - Adenoid basal carcinoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 213823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213823 - Adenoid cystic carcinoma of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082 - Intellectual disability-polydactyly-uncombable hair syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 - Isolated radio-ulnar synostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 213837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213837 - Malignant germ cell tumor of the cervix uteri - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259 - Syndactyly-polydactyly-ear lobe syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 - Tetrasomy 5p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675 - Transposition of the great arteries - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379 - Distal duplication 17q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694 - Congenitally corrected transposition of the great arteries - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 - Isolated congenitally uncorrected transposition of the great arteries - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 - Congenitally uncorrected transposition of the great arteries with cardiac malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 - Double uterus-hemivagina-renal agenesis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 216796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 - Osteogenesis imperfecta type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903 - Von Willebrand disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 216804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 - Osteogenesis imperfecta type 2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 216812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 - Osteogenesis imperfecta type 3 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 216820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 - Osteogenesis imperfecta type 4 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 216828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 - Osteogenesis imperfecta type 5 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441 - Ring chromosome 17 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 - Familial glucocorticoid deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787 - Acrofacial dysostosis, Palagonia type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 217008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008 - Bockenheimer syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 - Zechi-Ceide syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 - Spinocerebellar ataxia type 31 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 217026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179 - Birdshot chorioretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 217260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217260 - Progressive multifocal leukoencephalopathy - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292 - Congenital enterovirus infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 217253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217253 - NMDA receptor encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767 - Polyarteritis nodosa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 - Classic mycosis fungoides - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 - Sézary syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 217080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217080 - Pulmonary fungal infections in patients deemed at risk - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 217074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217074 - Rare carcinoma of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330 - Kasabach-Merritt phenomenon - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 217071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071 - Renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 217067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217067 - Pouchitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 2700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2700 - Noma - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 217064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217064 - 5-fluorouracil poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 1451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 - CINCA syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 217059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 - Isolated nail clubbing - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556 - Malakoplakia - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 - 17q21.31 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260 - Idiopathic hypereosinophilic syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 217330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 - REN-related autosomal dominant tubulointerstitial kidney disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 2086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086 - Optic pathway glioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2566 - Chronic Epstein-Barr virus infection syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 3385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3385 - African trypanosomiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 1560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1560 - Cysticercosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=341 - Viral hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=340 - Hemorrhagic fever-renal syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2552 - Microsporidiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1463 - Triatrial heart - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560 - Neuroendocrine cell hyperplasia of infancy - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 217557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557 - Pulmonary interstitial glycogenosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686 - Cardiac diverticulum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 - Chronic respiratory distress with surfactant metabolism deficiency - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 217563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 - Neonatal acute respiratory distress syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 217407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 - Hereditary hypotrichosis with recurrent skin vesicles - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 - Middle aortic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 - Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 217454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454 - Rare hereditary thrombophilia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 - Aorta coarctation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 - Combined immunodeficiency due to DOCK8 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 1132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 - Aortic arch defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 - 17p13.3 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1138 - Abnormal origin of the pulmonary artery - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1207 - Pulmonary atresia with ventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217399 - Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 217396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 - Progressive polyneuropathy with bilateral striatal necrosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 - Pulmonary valve agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 217346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 - 19q13.11 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 - Absence of the pulmonary artery - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 - Aneurysm of sinus of Valsalva - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1081 - Coronary artery congenital malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 - Microduplication Xp11.22p11.23 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091 - Congenital systemic veins anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613 - Mitochondrial disease with dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 217616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616 - Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 217619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619 - Syndrome associated with dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 3093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 - Congenital aortic valve stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 - Sensorineural deafness with dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 3092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 - Fixed subaortic stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217604 - Dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 - Aortic arch interruption - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427 - Double outlet left ventricle - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217607 - Familial dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 217610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610 - Neuromuscular disease with dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 3426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426 - Double outlet right ventricle - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439 - Isolated right ventricular hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587 - Mitochondrial disease with hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 217591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591 - Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422 - Idiopathic/heritable pulmonary arterial hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 217595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595 - Syndrome associated with hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2447 - Congenital mitral malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217598 - Non-familial hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 - Pulmonary arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217569 - Rare hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2037 - Congenital aortopulmonary window - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572 - Glycogen storage disease with hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041 - Coronary arterial fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 217581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581 - Lysosomal disease with hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2039 - Congenital systemic arteriovenous fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 - Frontotemporal dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 217720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217720 - Non-familial restrictive cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331 - Congenital factor XIII deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542 - Primary cutaneous lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707 - Plague - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 217638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638 - Lysosomal disease with restrictive cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 217635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217635 - Familial restrictive cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335 - Congenital fibrinogen deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 217632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217632 - Restrictive cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 217629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217629 - Non-familial dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 217678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217678 - Unclassified cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 79 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 - Congenital alpha2-antiplasmin deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 217656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 - Inherited isolated arrhythmogenic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 1070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1070 - Anisakiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 1467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467 - Cogan syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 2157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 - Histidinemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 - Limited cutaneous systemic sclerosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 - Saccharopinuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 - Limited systemic sclerosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 - Hyperlysinemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 - Diffuse cutaneous systemic sclerosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 - Congenital intrinsic factor deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 220448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448 - Macrothrombocytopenia with mitral valve insufficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967 - Transcobalamin I deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220452 - Isolated hereditary giant platelet disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 220436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436 - Quebec platelet disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 - Dicarboxylic aminoaciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443 - Bleeding diathesis due to thromboxane synthesis deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 218436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218436 - Rare cardiac rhythm disease - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 218439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218439 - Non-genetic cardiac rhythm disease - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 - Gyrate atrophy of choroid and retina - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 - Hyperammonemia due to N-acetylglutamate synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402 - Transient tyrosinemia of the newborn - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 - Phosphoenolpyruvate carboxykinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 - D-glyceric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 220460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 - Attenuated familial adenomatous polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 220489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 - Rare hereditary hemochromatosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 19 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 - 2-hydroxyglutaric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 - Pentosuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 - Cystathioninuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 - Lysinuric protein intolerance - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 221074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221074 - Marchiafava-Bignami disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 221078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221078 - Combined hyperactive dysfunction syndrome of the cranial nerves - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145 - Hereditary breast and/or ovarian cancer syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965 - Prolactinoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 221083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221083 - Hemifacial spasm - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 221091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221091 - Trigeminal neuralgia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538 - Lymphangioleiomyomatosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 221098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221098 - Glossopharyngeal neuralgia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2942 - Postpoliomyelitis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 221109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221109 - Cranial neuralgia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 221114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221114 - Acquired peripheral movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 - Isolated succinate-CoQ reductase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 221008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 - Rothmund-Thomson syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 - Fatal infantile cytochrome C oxidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 221039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039 - Hereditary sclerosing poikiloderma, Weary type - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 - Isolated complex III deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 - Paris-Trousseau thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 221043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 221046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 - Poikiloderma with neutropenia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 - Severe hereditary thrombophilia due to congenital protein C deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 221054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054 - Acrocephalopolydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 221061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 - Familial cerebral cavernous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 - Glanzmann thrombasthenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 225154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 - Familial infantile bilateral striatal necrosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 225123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 - TFR2-related hemochromatosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 225147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 - Sporadic infantile bilateral striatal necrosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 222628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222628 - Hereditary poikiloderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 223713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713 - Mitochondrial oxidative phosphorylation disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 223735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223735 - Lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 223727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223727 - Bone sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 221117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221117 - Gerstmann syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 221120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120 - Pseudoaminopterin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 221126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 - Fowler vasculopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 221142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221142 - Confetti-like macular atrophy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 221145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 228003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 - Severe combined immunodeficiency due to CORO1A deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 3398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3398 - Thymic epithelial neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 228000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000 - Idiopathic CD4 lymphocytopenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547 - Non-Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 227990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227990 - Autoimmune polyendocrinopathy type 4 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842 - Testicular seminomatous germ cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 227982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982 - Autoimmune polyendocrinopathy type 3 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 227976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 - Autosomal recessive optic atrophy, OPA7 type - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=876 - Yolk sac tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 227972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227972 - Toxic oil syndrome - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=883 - Extragonadal teratoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 227796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796 - Fundus albipunctatus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 228123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228123 - Coccidioidomycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 228119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228119 - Fusariosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 228116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228116 - Hughes-Stovin syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 228113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228113 - Anal fistula - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 3399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3399 - Germ cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 - Langerhans cell histiocytosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616 - Medulloblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=301 - Ependymal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 - Primary cutaneous CD30+ T-cell lymphoproliferative disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543 - Burkitt lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319 - Skeletal Ewing sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 227535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535 - Hereditary breast cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668 - Osteosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 227510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 - Multiple system atrophy, cerebellar type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94 - Astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=360 - Glioblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 226292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292 - Permanent congenital hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513 - Acute lymphoblastic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1957 - Esthesioneuroblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 226298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298 - Central congenital hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030 - Fibrosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2126 - Solitary fibrous tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 226295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295 - Primary congenital hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501 - Adrenocortical carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 226316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316 - Genetic transient congenital hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 226307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307 - Hypothyroidism due to deficient transcription factors involved in pituitary development or function - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 3148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148 - Malignant peripheral nerve sheath tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 3273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3273 - Synovial sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 226313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313 - Congenital hypothyroidism due to maternal intake of antithyroid drugs - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391 - Classic Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 2260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 - Oligomeganephronia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 225689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225689 - Amino acid or protein metabolism disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 225692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225692 - Metal transport or utilization disorder with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 1652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 - Dent disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 225696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225696 - Energy metabolism disorder with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 225700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225700 - Mitochondrial disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542 - Isolated microphthalmia-anophthalmia-coloboma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 3280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280 - Syringomyelia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478 - Megalencephalic leukoencephalopathy with subcortical cysts - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 225681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225681 - Lysosomal disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 225686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225686 - Peroxisomal disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 3337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 - Primary Fanconi renotubular syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223 - Arginine vasopressin resistance - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 225703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225703 - Mitochondrial disease with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 225707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225707 - Metabolic neurotransmission anomaly with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 225710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225710 - Sterol metabolism disorder with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757 - Pseudohypoaldosteronism type 2 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 225713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225713 - Other metabolic disease with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423 - GATA2 deficiency spectrum - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521 - Chronic myeloid leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 228415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415 - 5q35 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 - Hereditary butyrylcholinesterase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 - Autosomal recessive cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 229717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717 - Non-syndromic agammaglobulinemia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 229720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229720 - Syndromic agammaglobulinemia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 - Isolated Klippel-Feil syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 - Familial pancreatic carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 228396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 228387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 - Spondylo-megaepiphyseal-metaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 228410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 228399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399 - 8q12 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 2781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 - Osteopetrosis and related disorders - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 - 5q14.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 228379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228379 - Virus-associated trichodysplasia spinulosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374 - Charcot-Marie-Tooth disease type 2B5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371 - Foodborne botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290 - White fibrous papulosis of the neck - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293 - Pseudoxanthoma elasticum-like papillary dermal elastolysis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299 - Mid-dermal elastolysis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 - Carnitine palmitoyl transferase II deficiency, myopathic form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 228305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 228308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 - Carnitine palmitoyl transferase II deficiency, neonatal form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 228312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228312 - Autoimmune hemolytic anemia, cold type - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 228240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240 - Elastoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 - CACH syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228243 - Elastofibroma dorsi - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228247 - Acquired pseudoxanthoma elasticum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228254 - Elastoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228264 - Papular elastorrhexis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228272 - Primary anetoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277 - Familial anetoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228285 - Acquired cutis laxa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203 - Overhydrated hereditary stomatocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 3202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202 - Dehydrated hereditary stomatocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 228218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228218 - Acquired dermis elastic tissue disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228215 - Genetic dermis elastic tissue disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228224 - Acquired dermis elastic tissue disorder with increased elastic tissue - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228221 - Acquired dermis elastic tissue disorder with decreased elastic tissue - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1544 - Benign focal seizures of adolescence - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228236 - Linear focal elastosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228227 - Late-onset focal dermal elastosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 228145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228145 - Multiple sclerosis variant - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 - Idiopathic ventricular fibrillation - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 228165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228165 - Baló concentric sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Self-limited infantile epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228157 - Marburg acute multiple sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 - Congenital factor X deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 228174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 - Autosomal dominant Charcot-Marie-Tooth disease type 2N - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 228169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 - Autosomal dominant striatal neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 - Hemoglobin C disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 - Hemoglobin E disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 228184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184 - Heart-hand syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 228179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 - Autosomal dominant Charcot-Marie-Tooth disease type 2M - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288 - Hereditary elliptocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 1320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1320 - Idiopathic camptocormia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256 - Early-onset generalized limb-onset dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441 - Pure autonomic failure - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231457 - Acute pandysautonomia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231466 - Acute sensory ataxic neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 - Infantile bilateral striatal necrosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231445 - Paraparetic variant of Guillain-Barré syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231450 - Acute pure sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2073 - Narcolepsy type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231426 - Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231416 - Regional variant of Guillain-Barré syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231419 - Functional variant of Guillain-Barré syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 - Alpha-thalassemia-myelodysplastic syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 231413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231413 - Variant of Guillain-Barré syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866 - Focal, segmental or multifocal dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2611 - Linear verrucous nevus syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 231393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 - Beta-thalassemia-X-linked thrombocytopenia syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809 - Mixed connective tissue disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 231386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386 - Beta-thalassemia with other manifestations - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 - Medullary sponge kidney - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 - Hemoglobin E-beta-thalassemia syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 231242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 - Hemoglobin C-beta-thalassemia syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 2197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197 - Idiopathic hypercalciuria - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 231237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 - Delta-beta-thalassemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 231230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230 - Beta-thalassemia associated with another hemoglobin anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 231226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 - Dominant beta-thalassemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 18 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 - Distal renal tubular acidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 231222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 - Beta-thalassemia intermedia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160 - Castleman disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 231214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 - Beta-thalassemia major - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 231205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231205 - Common variable immunodeficiency without known genetic defect - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841 - Hailey-Hailey disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 231183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 - Usher syndrome type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 231178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 - Usher syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 - Chronic diarrhea with villous atrophy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 2596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 - Myopathy and diabetes mellitus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154 - Combined immunodeficiency due to partial RAG1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966 - Properdin deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 231160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160 - Familial cerebral saccular aneurysm - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 - Usher syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 231080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231080 - High-grade dysplasia in patients with Barrett esophagus - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 231108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108 - Rhabdoid tumor predisposition syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 - Familial hypocalciuric hypercalcemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111 - Drug-induced lupus erythematosus - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1223 - Balantidiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 231040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 - Familial generalized lentiginosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318 - Essential thrombocythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 230851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 - Cardiac-valvular Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 231031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031 - Erythema palmare hereditarium - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 - Zollinger-Ellison syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013 - Congenital trigeminal anesthesia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 230800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800 - Toxin-mediated infectious botulism - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 82 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 - Hereditary thrombophilia due to congenital antithrombin deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519 - Acute myeloid leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 233655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233655 - Rare genetic vascular disease - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 235832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235832 - Congenital vascular bone syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 235936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936 - Familial hyperaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 238305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238305 - Infundibulo-neurohypophysitis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 238269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 - AApoAII amyloidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 238446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446 - 15q11q13 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 - Severe X-linked mitochondrial encephalomyopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 231573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231573 - Congenital erosive and vesicular dermatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 231580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231580 - Primary unilateral adrenal hyperplasia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 - Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 231568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 - Autosomal dominant generalized dystrophic epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 231632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231632 - Ectopic aldosterone-producing tumor - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231637 - Rare surgically correctable form of primary aldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231625 - Adrenocortical carcinoma with pure aldosterone hypersecretion - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 231671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 - Isolated growth hormone deficiency type IB - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 - Vascular Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 231679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 - Isolated growth hormone deficiency type II - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231641 - Rare non surgically correctable form of primary aldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 - Hypermobile Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 231662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662 - Isolated growth hormone deficiency type IA - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736 - Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 231742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742 - Epibulbar lipodermoid-preauricular appendage-polythelia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 1901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 - Dermatosparaxis Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 231692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692 - Isolated growth hormone deficiency type III - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 231720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 - Arthrochalasia Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 - Congenital nephrotic syndrome, Finnish type - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 232035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232035 - Infectious embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3394 - Soft tissue sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 1084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 - Isolated lissencephaly type 1 without known genetic defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 232288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288 - Syndrome with alpha-thalassemia as a major feature - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750 - 4q21 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 - Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 238696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238696 - Transient congenital hypothyroidism due to maternal factor - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 238699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238699 - Transient congenital hypothyroidism due to neonatal factor - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 238722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 - Familial congenital mirror movements - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 238744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 - Mammary-digital-nail syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769 - 1q44 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 - Hypotonia-cystinuria type 1 syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 238505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 - Combined immunodeficiency due to CD27 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 238468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 - Hypohidrotic ectodermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 - Familial hypercholanemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 238455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 - Infantile dystonia-parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 238578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 - Familial clubfoot due to 17q23.1q23.2 microduplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 238557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557 - Chuvash erythrocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 238569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 238547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547 - Acquired secondary polycythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 238523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 - Atypical hypotonia-cystinuria syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 238536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536 - Congenital secondary polycythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 238637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637 - Megacystis-megaureter syndrome - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 238624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238624 - Idiopathic intracranial hypertension - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 238621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238621 - Ileal pouch anal anastomosis related faecal incontinence - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 238606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238606 - Primary orthostatic tremor - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 238593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238593 - IgG4-related mesenteritis - - - - 165711 - Rare abdominal surgical disease - - - - Preferential parent - - - - - - 238688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688 - Neonatal iodine exposure - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 238670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 - Isolated thyrotropin-releasing hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 238666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 - Isolated congenital hypogonadotropic hypogonadism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 238654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 - Congenital primary megaureter, nonrefluxing and unobstructed form - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 238650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 - Congenital primary megaureter, refluxing form - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 238646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 - Congenital primary megaureter, obstructed form - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 238642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 - Primary megaureter, adult-onset form - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 240371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371 - Syndromic obesity - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 240071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 - Classic progressive supranuclear palsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 240112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 240103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 - Progressive supranuclear palsy-corticobasal syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 240094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 240085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 240760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 - Nijmegen breakage syndrome-like disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 331226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226 - Susceptibility to infection due to TYK2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331223 - Hyper-IgE syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331235 - Selective IgM deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331232 - Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331244 - Other immunodeficiency syndrome with predominantly antibody defects - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331240 - Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249 - Primary hemophagocytic lymphohistiocytosis with hypopigmentation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 - Severe congenital neutropenia due to G6PC3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331184 - Syndrome with congenital neutropenia as a major feature - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187 - Immunodeficiency due to MASP-2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190 - Immunodeficiency due to ficolin3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331193 - Other immunodeficiency syndromes due to defects in innate immunity - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206 - Severe combined immunodeficiency due to complete RAG1/2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331217 - Syndrome with combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 331220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331220 - Syndome with combined immunodeficiency due to thymic defect - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 330206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330206 - Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 330064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330064 - Chronic actinic dermatitis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 330001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001 - Wild type ATTR amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 329977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977 - Classic neuroendocrine tumor of appendix - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 329984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984 - Goblet cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 330012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330012 - High altitude pulmonary edema - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 330015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330015 - Lead poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 330032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 - Hemoglobin Lepore-beta-thalassemia syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 330041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041 - Hemoglobin M disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 330021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330021 - Mercury poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 330029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 - Hypotrichosis-deafness syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 330058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058 - Hydroa vacciniforme - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 330061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061 - Actinic prurigo - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813 - Mosaic genome-wide paternal uniparental disomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 - 5p13 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883 - Non-hypoproteinemic hypertrophic gastropathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 329874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874 - Idiopathic giant cell myocarditis - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 329475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475 - Spastic paraplegia-Paget disease of bone syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 - Lipoprotein glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 329478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478 - Adult-onset distal myopathy due to VCP mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942 - Transient neonatal multiple acyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 329931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931 - C3 glomerulonephritis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 329971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 - Generalized juvenile polyposis/juvenile polyposis coli - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 329967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967 - Intermittent hydrarthrosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 329894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329894 - Juvenile overlap myositis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329888 - Juvenile idiopathic inflammatory myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918 - C3 glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 329903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903 - Immunoglobulin-mediated membranoproliferative glomerulonephritis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 329319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 - Thrombocythemia with distal limb defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 - PLA2G6-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457 - Distal arthrogryposis type 5D - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466 - Autosomal dominant focal dystonia, DYT25 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469 - Acute megakaryoblastic leukemia in children without Down syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 329329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 - Autosomal recessive frontotemporal pachygyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 329228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 329224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 - Schuurs-Hoeijmakers syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217 - Cerebral sinovenous thrombosis - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 329211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 - Autosomal dominant neovascular inflammatory vitreoretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 329195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195 - Developmental delay with autism spectrum disorder and gait instability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 - Tall stature-long halluces-multiple extra-epiphyses syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 329258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258 - Autosomal dominant Charcot-Marie-Tooth disease type 2Q - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 329249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249 - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 329242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 - Congenital chronic diarrhea with protein-losing enteropathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 329235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235 - X-linked central congenital hypothyroidism with late-onset testicular enlargement - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 329173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173 - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 325697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325697 - Genetic 46,XX difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325690 - Genetic difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325713 - Genetic 46,XY difference of sex development of endocrine origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325706 - Genetic 46,XY difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325638 - Syndrome with difference of sex development of gynecological interest - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325665 - Genetic difference of sex development of gynecological interest - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325620 - Difference of sex development of gynecological interest - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325632 - 46,XY difference of sex development of gynecological interest - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 - Congenital factor XI deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 1243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 - Best vitelliform macular dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 325511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511 - 46,XY difference of sex development due to a cholesterol synthesis defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357 - 46,XY difference of sex development due to impaired androgen production - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 - Leydig cell hypoplasia due to LHB deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546 - Sex chromosome difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537 - 46,XY difference of sex development induced by maternal exposure to endocrine disruptors - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 - Testicular agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118 - 46,XY disorder of gonadal development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325351 - 46,XY difference of sex development of endocrine origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 - 46,XY ovotesticular difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055 - 46,XX disorder of gonadal development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109 - Syndrome with 46,XX difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325099 - 46,XX difference of sex development induced by exogenous maternal-derived androgen - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325093 - 46,XX difference of sex development induced by endogenous maternal-derived androgen - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 325061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061 - 46,XX difference of sex development induced by fetoplacental androgens excess - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324960 - Unexplained periodic fever syndrome of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964 - Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324972 - MAGIC syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 - Proteasome-associated autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324939 - Periodic fever syndrome of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324942 - Pyogenic autoinflammatory syndrome of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324950 - Granulomatous autoinflammatory syndrome of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324953 - Unclassified autoinflammatory syndrome of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324927 - Pyogenic autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324930 - Granulomatous autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324933 - Mixed autoinflammatory and autoimmune syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324936 - Unclassified autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 - Trichorhinophalangeal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 - Microcephalic primordial dwarfism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324924 - Hereditary periodic fever syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 324767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324767 - Non-familial rare disease with dilated cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 324718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 - ABetaA21G amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 - ABeta amyloidosis, Italian type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 324723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 - ABeta amyloidosis, Arctic type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324648 - Invasive non-typhoidal salmonellosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 324636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324636 - Autoerythrocyte sensitization syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 324708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 - ABeta amyloidosis, Iowa type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 - ABetaL34V amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 - Classic multiminicore myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632 - Hendra virus infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 324625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625 - Chikungunya - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 324588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588 - Familial dyskinesia and facial myokymia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 - X-linked cleft palate and ankyloglossia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 - Benign Samaritan congenital myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585 - Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 - Pontocerebellar hypoplasia type 8 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 - Hyperinsulinism due to HNF1A deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 324540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540 - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561 - Hypopigmentation-punctate palmoplantar keratoderma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 324530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530 - Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 324535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 - Combined oxidative phosphorylation defect type 11 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 324442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442 - Autosomal recessive axonal neuropathy with neuromyotonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416 - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 324410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324381 - Hereditary inclusion body myopathy type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364 - Mixed sclerosing bone dystrophy with extra-skeletal manifestations - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 324353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353 - Congenital achiasma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 324321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 - Sinoatrial node dysfunction and deafness - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 324313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 - 9p13 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 324307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307 - Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 324299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 - Multiple paragangliomas associated with polycythemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 324294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 - T-cell immunodeficiency with epidermodysplasia verruciformis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 324290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 - PRDM8-related progressive myoclonus epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 322126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322126 - Genetic tumor of hematopoietic and lymphoid tissues - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 319719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319719 - Autoinflammatory syndrome of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 320332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320332 - X-linked pure spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320335 - Pure or complex hereditary spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320342 - Pure or complex autosomal dominant spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320346 - Pure or complex autosomal recessive spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320350 - Pure or complex X-linked spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360 - MT-ATP6-related mitochondrial spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355 - Autosomal dominant spastic paraplegia type 41 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370 - Autosomal recessive spastic paraplegia type 43 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365 - Autosomal dominant spastic paraplegia type 36 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 - Autosomal recessive spastic paraplegia type 54 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 - Autosomal recessive spastic paraplegia type 46 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401 - Autosomal recessive spastic paraplegia type 44 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 - Autosomal recessive spastic paraplegia type 45 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 - Autosomal recessive spastic paraplegia type 56 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 320406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 319543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319543 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547 - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319535 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319539 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 - Combined oxidative phosphorylation defect type 14 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 319524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 - Combined oxidative phosphorylation defect type 15 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 319509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 - Combined oxidative phosphorylation defect type 9 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 319514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 - Combined oxidative phosphorylation defect type 13 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 319589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595 - Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563 - Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552 - Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558 - Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 - Constitutional megaloblastic anemia with severe neurologic disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 319640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640 - Retinal macular dystrophy type 2 - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 319635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635 - Amyloidosis cutis dyschromia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 319605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605 - X-linked mendelian susceptibility to mycobacterial diseases - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600 - Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 319675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 - Microcephalic primordial dwarfism, Dauber type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 319671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 - Alazami syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 319667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667 - Primary lymphoma of the conjunctiva - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 319254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319254 - Kyasanur forest disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319266 - Omsk hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276 - Clear cell renal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319239 - Brazilian hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319244 - Chapare hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319247 - Hantavirus pulmonary syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319251 - Rift valley fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319 - Renal medullary carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322 - Mucinous tubular and spindle cell renal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325 - Tubulocystic renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287 - Multilocular cystic renal neoplasm of low malignant potential - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298 - Papillary renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303 - Chromophobe renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308 - MiT family translocation renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 - Autosomal recessive myogenic arthrogryposis multiplex congenita - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 319328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319328 - Inherited renal cancer-predisposing syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 319487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487 - Familial papillary or follicular thyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 - Acute myeloid leukemia with CEBPA somatic mutations - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 - Combined oxidative phosphorylation defect type 8 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 319494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319494 - Familial nonmedullary thyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 - Inherited acute myeloid leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462 - Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 319205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319205 - Bilateral massive adrenal hemorrhage - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 319213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319213 - Lujo hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 - Chondroectodermal dysplasia with night blindness - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 319199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 - Autosomal recessive spastic paraplegia type 53 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 319229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319229 - Bolivian hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319234 - Venezuelan hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319218 - Ebola hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319223 - Argentine hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 319160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 - Congenital myopathy with internal nuclei and atypical cores - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 319171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171 - Distal 17p13.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 319189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189 - Familial cortical myoclonus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 319192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 - Diencephalic-mesencephalic junction dysplasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 319182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 - Wiedemann-Steiner syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 317419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317419 - T-B- severe combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 317416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317416 - T-B+ severe combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 317428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428 - Combined immunodeficiency due to ORAI1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 317425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425 - Severe combined immunodeficiency due to DNA-PKcs deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 317430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430 - Combined immunodeficiency due to STIM1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 317473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473 - Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 317476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 - XMEN - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 315350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315350 - Autoimmune disease with skin involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993 - Cataract-congenital heart disease-neural tube defect syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978 - X-linked non progressive cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970 - Lymphocytic hypereosinophilic syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 314962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962 - Secondary hypereosinophilic syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 314950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 - Primary hypereosinophilic syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 316244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316244 - Partial deletion of the short arm of chromosome 12 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 316235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316235 - Autosomal dominant spastic ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 316240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316240 - Autosomal recessive spastic ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 316226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316226 - Spastic ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 - Primary systemic amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 314697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697 - Acquired porencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 - Primary localized amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 314679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 - Cerebrofacioarticular syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 314689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689 - Combined immunodeficiency due to STK4 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 314684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684 - Primary bone lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652 - Variant ABeta2M amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 314647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 - Non-progressive cerebellar ataxia with intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662 - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621 - Duplication of the pituitary gland - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802 - Short stature due to partial GHR deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811 - Short stature due to GHSR deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314822 - Primary renal tubular acidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 314889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314889 - Autosomal dominant proximal renal tubular acidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 314777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777 - Familial isolated pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786 - Silent pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790 - Null pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 - SHOX-related short stature - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 314753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314753 - Functioning pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314759 - Mixed functioning pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314769 - Somatomammotropinoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 314718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 314721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721 - Atypical dentin dysplasia due to SMOC2 deficiency - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 314749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314749 - Rare disease with adrenal Cushing syndrome as a major feature - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 370127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127 - Medich giant platelet syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 370109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370109 - Ataxia-telangiectasia variant - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370106 - Rare disorder with dystonia and other neurologic or systemic manifestation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103 - Primary dystonia, DYT17 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 - Oculocutaneous albinism type 6 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 370091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 - Oculocutaneous albinism type 5 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 370396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396 - Small cell carcinoma of the ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 370348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348 - Peripheral primitive neuroectodermal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 370334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334 - Extraskeletal Ewing sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 370131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131 - White platelet syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 370046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046 - Didymosis aplasticosebacea - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 370034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 - Familial syringomyelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 370039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039 - Angora hair nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 370022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026 - Acute myeloid leukemia with t(8;16)(p11;p13) translocation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 370015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 370088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088 - Acute infantile liver failure-multisystemic involvement syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 370076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076 - Fetal carbamazepine syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 370079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079 - Proximal 16p11.2 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 370068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370068 - Fetal anticonvulsant syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 370052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052 - SCALP syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 370059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370059 - NEVADA syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 371047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371047 - Congenital disorder of glycosylation with neurological involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371071 - Congenital disorder of glycosylation with epilepsy as a major feature - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371007 - Congenital muscular dystrophy with hyperlaxity - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 371040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371040 - Primary qualitative or quantitative defects of alpha-dystroglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 371024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371024 - Qualitative or quantitative defects of alpha-dystroglycan - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 371183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371183 - Congenital disorder of glycosylation with cardiac malformation as a major feature - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371176 - Congenital disorder of glycosylation with dilated cardiomyopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371195 - Congenital disorder of glycosylation-related bone disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371188 - Congenital disorder of glycosylation with intestinal involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371157 - Congenital disorder of glycosylation with hepatic involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 370953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370953 - Congenital muscular dystrophy due to dystroglycanopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 - Congenital muscular dystrophy without intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 365563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365563 - Primary short bowel syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 369929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929 - Primary hyperaldosteronism-seizures-neurological abnormalities syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 - Pontocerebellar hypoplasia type 9 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 369950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 369970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970 - Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 369979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979 - Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 369992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992 - Severe dermatitis-multiple allergies-metabolic wasting syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 370002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002 - Focal palmoplantar keratoderma with joint keratoses - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 369999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999 - Diffuse palmoplantar keratoderma with painful fissures - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 370010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010 - Intellectual disability-facial dysmorphism-hand anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840 - TRAPPC11-related limb-girdle muscular dystrophy R18 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852 - Congenital neutropenia-myelofibrosis-nephromegaly syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 369861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 - Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 369867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 369873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873 - Obesity due to SIM1 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 369881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881 - 2p21 microdeletion syndrome without cystinuria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 369886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369886 - Homozygous 2p21 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 369891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 369897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 369913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 - Combined oxidative phosphorylation defect type 17 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 364063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 - Infantile epileptic-dyskinetic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 364055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055 - Severe early-childhood-onset retinal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 364039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039 - Hydroa vacciniforme-like lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 364043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043 - ALK-positive large B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 364028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028 - X-linked intellectual disability due to GRIA3 mutations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 364033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033 - Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 1194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 - TMEM70-related mitochondrial encephalo-cardio-myopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 363999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999 - Non-immune hydrops fetalis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 - Isolated anencephaly/exencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 364013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013 - Immune hydrops fetalis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989 - Familial benign flecked retina - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823 - Spina bifida and other spinal dysraphisms - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976 - Giant cell tumor of bone - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981 - Charcot-Marie-Tooth disease type 4B3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969 - Autosomal recessive cerebral atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 - Koolen-De Vries syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746 - Balint syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 - X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 363722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 - Alexander disease type II - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 - Alexander disease type I - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 - Spinocerebellar ataxia type 37 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 363686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680 - 2p13.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 364803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364803 - Rare bone disease related to a common gene or pathway defect - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 364820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364820 - TRPV4-related bone disorder - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 364574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364574 - Acrofacial dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 364571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364571 - Dysostosis with limb and face anomalies as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 364577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 364559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364559 - Dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 364541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541 - Otopalatodigital syndrome spectrum disorder - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 364568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364568 - Dysostosis with limb anomaly as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 364526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364526 - Primary bone dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 364536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364536 - Primary bone dysplasia with micromelia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 364531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364531 - Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 364198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198 - Bipartite talus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409 - Fetal akinesia-cerebral and retinal hemorrhage syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412 - Hypomyelination with brain stem and spinal cord involvement and leg spasticity - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363314 - Genetic intestinal polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 363300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363300 - Genetic intractable diarrhea of infancy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 363306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363306 - Genetic intestinal disease due to fat malabsorption - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 363400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 - Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363250 - Ciliopathy - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 363294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363294 - Genetic syndromic Pierre Robin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363245 - Genetic progeroid syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363203 - Ring chromosome syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189 - Congenital anomaly of the great veins - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 - LMNA-related cardiocutaneous progeria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 363654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654 - X-linked parkinsonism-spasticity syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659 - 20q11.2 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 - Acroosteolysis-keloid-like lesions-premature aging syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 363540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549 - Acute encephalopathy with biphasic seizures and late reduced diffusion - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558 - New-onset refractory status epilepticus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363567 - Acute encephalopathy with inflammation-mediated status epilepticus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363579 - Extragonadal germ cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363582 - Gonadal germ cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 - CTCF-related neurodevelopmental disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504 - Germ cell tumor of testis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494 - Non-seminomatous germ cell tumor of testis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 - Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 363528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 - Intellectual disability-strabismus syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 363454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454 - BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447 - Autosomal dominant childhood-onset proximal spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 363478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478 - Paratesticular adenocarcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363472 - Tumor of testis and paratestis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489 - Sex cord-stromal tumor of testis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 363483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483 - Testicular teratoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 357175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175 - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 357329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 - Combined immunodeficiency due to IL21R deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 357332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332 - Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 357220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357220 - Primary essential cutis verticis gyrata - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 357225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225 - Primary non-essential cutis verticis gyrata - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 357237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 - Combined immunodeficiency due to CARD11 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 357506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357506 - Genetic non-syndromic renal or urinary tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 357502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357502 - Idiopathic nephrotic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 356978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 - D,L-2-hydroxyglutaric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 357008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 - Hemolytic uremic syndrome with DGKE deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 357001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001 - 19p13.13 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 356996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996 - ANK3-related intellectual disability-sleep disturbance syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 357043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 - Amyotrophic lateral sclerosis type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 357034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034 - Non-hereditary retinoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 357027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 - Hereditary retinoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 357158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 357154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357154 - Oral submucous fibrosis - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 357131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357131 - Venous thoracic outlet syndrome - - - - 97962 - Rare surgical thoracic disease - - - - Preferential parent - - - - - - 357107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357107 - Arterial thoracic outlet syndrome - - - - 97962 - Rare surgical thoracic disease - - - - Preferential parent - - - - - - 352654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 352657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352657 - Hereditary benign intraepithelial dyskeratosis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 352641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636 - Phalangeal microgeodic syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 352649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 - Brain dopamine-serotonin vesicular transport disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596 - Progressive myoclonic epilepsy with dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629 - 16q24.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 352577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 - Bainbridge-Ropers syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 - Familial infantile myoclonic epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352728 - Disorder of melanin metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 - Oculocutaneous albinism type 1 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 352734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 - Minimal pigment oculocutaneous albinism type 1 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 352737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 - Temperature-sensitive oculocutaneous albinism type 1 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 352718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 - Progressive retinal dystrophy due to retinol transport defect - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 352723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 - Attenuated Chédiak-Higashi syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 352670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 - X-linked Charcot-Marie-Tooth disease type 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 353253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353253 - Burning mouth syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 353220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220 - Familial primary localized cutaneous amyloidosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 353217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 - Epileptic encephalopathy with global cerebral demyelination - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352763 - Scleredema - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 352745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 - Oculocutaneous albinism type 7 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 353356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353356 - Vasoproliferative tumor of the retina - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 353344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353344 - Idiopathic macular telangiectasia type 1 - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 353351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353351 - Idiopathic macular telangiectasia type 3 - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 353334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334 - Congenital retinal arteriovenous communication - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 353320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 - Pyruvate carboxylase deficiency, benign type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 353308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 - Pyruvate carboxylase deficiency, infantile type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 353314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 - Pyruvate carboxylase deficiency, severe neonatal type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 352301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352301 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352312 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352309 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352306 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 352563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 352540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540 - Oncogenic osteomalacia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352456 - Mitochondrial DNA maintenance syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 352470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 - DNA2-related mitochondrial DNA deletion syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 352490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 - Autism spectrum disorder due to AUTS2 deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294951 - Congenital joint dislocations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949 - Non-syndromic joint formation defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 - Syndrome with limb reduction defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294953 - Non-syndromic limb overgrowth - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294947 - Congenital deformities of fingers - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294944 - Congenital deformities of limbs - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925 - Non-syndromic amelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927 - Non-syndromic intercalary limb defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 - Renal-hepatic-pancreatic dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422 - Chronic intestinal failure - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 294057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294057 - Rare nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 294060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294060 - Multiple pterygium syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987 - Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 294016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 - Microcephaly-capillary malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 294026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026 - Syndactyly-nystagmus syndrome due to 2q31.1 microduplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 293967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 - Deficiency in anterior pituitary function-variable immunodeficiency syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 293958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958 - Hypertelorism-preauricular sinus-punctual pits-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 - Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 293948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 - 1p21.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939 - Distal Xq28 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936 - EDICT syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 293925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 - Lethal occipital encephalocele-skeletal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 293899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 - Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 293888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 293864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 - Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830 - Constitutional dyserythropoietic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 293822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822 - MITF-related melanoma and renal cell carcinoma predisposition syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 293825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 - Congenital dyserythropoietic anemia type IV - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 293812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293812 - Fixed drug eruption - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 293815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293815 - Toxic dermatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 293807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293807 - Ketamine-induced biliary dilatation - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 293725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 - Blepharophimosis-intellectual disability syndrome, Verloes type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 - Blepharophimosis-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 295044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295044 - Macrodactyly of fingers - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295047 - Macrodactyly of toes - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295049 - Upper limb hypertrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295051 - Lower limb hypertrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022 - Congenital pseudoarthrosis of the fibula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024 - Congenital pseudoarthrosis of the radius - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026 - Congenital pseudoarthrosis of the ulna - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028 - Isolated tibio-fibular synostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295030 - True congenital shoulder dislocation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032 - Isolated congenital radial head dislocation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295034 - Congenital knee dislocation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036 - Congenital patella dislocation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012 - Syndactyly type 6 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020 - Congenital pseudoarthrosis of the femur - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018 - Congenital pseudoarthrosis of the tibia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295016 - Camptodactyly of fingers - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295014 - Familial isolated clinodactyly of fingers - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 - Central polydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002 - Isolated hyperphalangy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 - Amniotic band syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977 - Isolated absence of thigh and lower leg with foot present - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 - Isolated absence of both forearm and hand - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973 - Isolated humeral agenesis/hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975 - Isolated absence of upper arm and forearm with hand present - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986 - Isolated apodia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988 - Isolated hypoplasia of thumb - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981 - Isolated absence of both lower leg and foot - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983 - Isolated acheiria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 - Popliteal pterygium syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957 - Dysostosis with combined reduction defects of upper and lower limbs - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959 - Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969 - Isolated amelia of lower limb - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971 - Isolated tetra-amelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294965 - Lethal congenital contracture syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 294967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967 - Isolated amelia of upper limb - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 290842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290842 - Autoinflammatory syndrome with skin involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 290849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290849 - Rare head and neck tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 - Hypermethioninemia due to glycine N-methyltransferase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902 - 3-methylglutaconic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899 - Organic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866 - Disorder of proline metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877 - Transient hyperammonemia of the newborn - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289869 - Disorder of ornithine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 290839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290839 - Autoinflammatory syndrome with immune deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 290836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290836 - Systemic disease with skin involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 289916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289682 - Lymphoepithelial-like carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289685 - Myopericytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661 - Epstein-Barr virus-positive diffuse large B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666 - Plasmablastic lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289651 - Epstein-Barr Virus-associated carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289656 - Epstein-Barr Virus-associated mesenchymal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289638 - Epstein-Barr Virus-related tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289644 - Epstein-Barr virus-associated malignant lymphoproliferative disorder - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 289849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 289832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832 - Disorder of lysine and hydroxylysine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841 - Disorder of glutamine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825 - Late-onset primary lymphedema without systemic or visceral involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829 - Disorder of tryptophan metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 - Multiple mitochondrial dysfunctions syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 - Dysmorphism-conductive hearing loss-heart defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548 - Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 289539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539 - BAP1-related tumor predisposition syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289635 - Rare virus associated tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601 - Hereditary arterial and articular multiple calcification syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 289596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289596 - Juvenile nasopharyngeal angiofibroma - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 289586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 - Exfoliative ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 293355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355 - Methylmalonic acidemia without homocystinuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 293375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375 - Grayson-Wilbrandt corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 293381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381 - Epithelial recurrent erosion dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 293462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462 - Pre-Descemet corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 293603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603 - Congenital hereditary endothelial dystrophy type II - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 293621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621 - X-linked endothelial corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 293150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 - Familial clubfoot due to PITX1 point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 - Familial mitral valve prolapse - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 - Familial clubfoot due to 5q31 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 - Infantile-onset ascending hereditary spastic paralysis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 293165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 - Autosomal dominant hypocalcemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 293181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Epilepsy of infancy with migrating focal seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298 - Insulin-resistance syndrome type B - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 2207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207 - Familial primary hyperparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 293173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293173 - Acute generalized exanthematous pustulosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 293199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199 - Pleomorphic rhabdomyosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 - 46,XX testicular difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 293202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293202 - Epithelioid sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 293284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 293208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293208 - Celiac artery compression syndrome - - - - 165711 - Rare abdominal surgical disease - - - - Preferential parent - - - - - - 2459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2459 - Mansonelliasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2404 - Loiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 - Arachnoid cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829 - Adult-onset Still disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3096 - Reye syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929 - Rasmussen subacute encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 1183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183 - Opsoclonus-myoclonus syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2688 - Adult idiopathic neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 2686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 - Cyclic neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890 - Hepatic veno-occlusive disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176 - Non-rhizomelic chondrodysplasia punctata - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231 - Dracunculiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 2035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2035 - Lymphatic filariasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 80 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=80 - Antiphospholipid syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 285657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657 - Disorder of folate metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 284786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284786 - Qualitative or quantitative defects of troponin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284790 - Qualitative or quantitative defects of tropomyosin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804 - Ocular albinism - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 284448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284448 - CLIPPERS - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284454 - Acute zonal occult outer retinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 284460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284460 - Acute annular outer retinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 284414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 - Glycerol kinase deficiency, adult form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 284417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 284435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 - Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 285014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285014 - Rare disease with thoracic aortic aneurysm and aortic dissection - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 284993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284993 - Marfan syndrome and Marfan-related disorders - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 284984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984 - Aneurysm-osteoarthritis syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 284979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979 - Neonatal Marfan syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 284814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814 - Disorder of phenylalanine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 284811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811 - Syndromic oculocutaneous albinism - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 284818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818 - Disorder of tyrosine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289362 - Non-central nervous system-localized embryonal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 - Familial vesicoureteral reflux - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 289347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347 - Infective dermatitis associated with HTLV-1 - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 289356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356 - Primary non-gestational choriocarcinoma of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 289377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 - Early-onset myopathy with fatal cardiomyopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 - Myosclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289326 - Tropical spastic paraparesis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 289307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 - Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 - Combined malonic and methylmalonic acidemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 289499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499 - Congenital cataract microcornea with corneal opacity - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 289494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494 - 4H leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 289522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 - Microtriplication 11q24.1 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 - 12q15q21 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465 - Isolated congenital adermatoglyphia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390 - Primary Sjögren disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 289385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289385 - Malignancy diagnosed during pregnancy - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 289483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483 - Intellectual disability-alacrima-achalasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 289478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478 - PASH syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 289103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103 - Hypocalcemic rickets - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 289098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 - Disorders of vitamin D metabolism - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 289176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 - Autosomal recessive hypophosphatemic rickets - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 289157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 - Hypocalcemic vitamin D-dependent rickets - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 280926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280926 - Systemic diseases with anterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280921 - Idiopathic panuveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280917 - Idiopathic posterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280914 - Isolated idiopathic anterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280898 - Panuveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280892 - Posterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280886 - Anterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 281103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103 - Keratinopathic ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 - Autosomal recessive congenital ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 - Syndromic recessive X-linked ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085 - Inherited ichthyosis syndromic form - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082 - Inherited non-syndromic ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280933 - Systemic diseases with panuveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 280930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280930 - Systemic diseases with posterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 281210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210 - X-linked ichthyosis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281217 - Autosomal ichthyosis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 - Congenital reticular ichthyosiform erythroderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 - Annular epidermolytic ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 - Self-improving collodion baby - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 - Acral self-healing collodion baby - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281244 - Autosomal ichthyosis syndrome with other associated signs - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281238 - Autosomal ichthyosis syndrome with prominent neurologic signs - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281241 - Autosomal ichthyosis syndrome with fatal disease course - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 281222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281222 - Autosomal ichthyosis syndrome with prominent hair abnormalities - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 - Familial progressive hyper- and hypopigmentation - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 - Hemoglobinopathy Toms River - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 280598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 - Hereditary sensorimotor neuropathy with hyperelastic skin - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 - Progressive myoclonic epilepsy type 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 - Megaconial congenital muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 280640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 - Occipital pachygyria and polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 - Autosomal recessive nail dysplasia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280779 - Cutaneous collagenous vasculopathy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785 - Bullous diffuse cutaneous mastocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794 - Pseudoxanthomatous diffuse cutaneous mastocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802 - Intralobar congenital pulmonary sequestration - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 - Severe intellectual disability and progressive spastic paraplegia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280774 - Generalized essential telangiectasia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 280840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840 - Congenital pulmonary airway malformation type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847 - Congenital pulmonary airway malformation type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854 - Congenital pulmonary airway malformation type 4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811 - Extralobar congenital pulmonary sequestration - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821 - Communicating congenital bronchopulmonary-foregut malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827 - Congenital pulmonary airway malformation type 0 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 280832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832 - Congenital pulmonary airway malformation type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 284149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 - Craniosynostosis-dental anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 284180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 - Xp22.13p22.2 duplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 284169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 284160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 - 8q21.11 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 284247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 - Familial retinal arterial macroaneurysm - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 284232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 - Autosomal dominant Charcot-Marie-Tooth disease type 2O - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284227 - TEMPI syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 284271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284264 - IgG4-related disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 284324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 - Adult-onset autosomal recessive cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343 - DICER1 tumor-predisposition syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 284332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 - Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 284385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284385 - Familial intrahepatic cholestasis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 284388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284388 - Reversible cerebral vasoconstriction syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 284362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284362 - Fetal lung interstitial tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 284411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 - Glycerol kinase deficiency, juvenile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 284395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284395 - Well-differentiated fetal adenocarcinoma of the lung - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 284400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400 - Small cell carcinoma of the bladder - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 282124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282124 - Partial deletion of chromosome 12 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 282196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282196 - Autoimmune polyendocrinopathy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 282166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 - Inherited Creutzfeldt-Jakob disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 309848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309848 - Disorder of magnesium transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309845 - Disorder of zinc metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309842 - Disorder of iron metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309839 - Disorder of copper metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 310050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310050 - Acquired immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 309854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309851 - Disorder of manganese transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309824 - Disorder of metabolite absorption and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819 - Disorder of pterin metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309816 - Disorder of bilirubin metabolism and excretion - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309813 - Disorder of porphyrin and heme metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309836 - Disorder of mineral absorption and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309833 - Disorder of other vitamins and cofactors metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309830 - Disorder of catecholamine synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309827 - Disorder of vitamin and non-protein cofactor absorption and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309568 - Defect in conserved oligomeric Golgi complex - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309778 - Defect in V-ATPase - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309515 - Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309526 - Disorder of multiple glycosylation - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 309810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309810 - Disorder of peroxisomal alpha-, beta- and omega-oxidation - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 309447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309447 - Disorder of protein O-glycosylation - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309450 - Disorder of O-xylosylglycan synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309340 - Disorder of lysosomal-related organelles - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309347 - Disorder of protein N-glycosylation - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309469 - Disorder of O-mannosylglycan synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309505 - Disorder of fucoglycosan synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309458 - Disorder of O-N-acetylgalactosaminylglycan synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309463 - Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 314029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 - High bone mass osteogenesis imperfecta - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 314022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022 - Gastric adenocarcinoma and proximal polyposis of the stomach - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314017 - Idiopathic linear interstitial keratitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 314002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314002 - Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 313947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947 - 2q23.1 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 313936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936 - PENS syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 313920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920 - Epstein-Barr virus-associated gastric carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 313906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906 - Congenital pancreatic cyst - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 313892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 - Developmental and speech delay due to SOX5 deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 313884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 - 12p12.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 313855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 - FGFR2-related bent bone dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 313846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 313838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 - Coats plus syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 313800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800 - Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 313808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 313781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781 - 20p13 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 313795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 - Jawad syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 313772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613 - Growing teratoma syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575 - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572 - Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 - 15q overgrowth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 - Young adult-onset distal hereditary motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314566 - Primary progressive apraxia of speech - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314466 - Atypical Meigs syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459 - Pseudo-Meigs syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478 - Ovarian fibrothecoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473 - Ovarian fibroma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422 - Ameloblastic carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314425 - Rare odontogenic tumor - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 314432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432 - Spigelian hernia-cryptorchidism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451 - Meigs syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 314399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 - Autosomal dominant aplasia and myelodysplasia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 314404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419 - Ameloblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 314373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 314376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 314381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381 - Hereditary sensory and autonomic neuropathy type 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389 - Xq12-q13.3 duplication syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 314034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034 - 7p22.1 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041 - Marfanoid habitus-inguinal hernia-advanced bone age syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 314051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306756 - Epilepsy and/or ataxia with myoclonus as a major feature - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306759 - Non progressive epilepsy and/or ataxia with myoclonus as a major feature - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306750 - Primary myoclonus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306753 - Rare disease with myoclonus as a major feature - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306768 - Rare paroxysmal movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306773 - Hyperekplexia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306765 - Motor stereotypies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 307055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307055 - Rare parkinsonian syndrome due to genetic neurodegenerative disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 307058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307058 - Miscellaneous movement disorder due to genetic neurodegenerative disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306776 - Sporadic hyperekplexia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 307052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307052 - Rare genetic parkinsonian disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 307067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307067 - Rare genetic disease with myoclonus as a major feature - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 307141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307141 - Diffuse palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307061 - Rare genetic tremor disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 307064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307064 - Rare genetic myoclonus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306682 - Manganese poisoning - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306679 - Rare parkinsonian syndrome due to intoxication - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306669 - Hemiparkinsonism-hemiatrophy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306708 - Frontotemporal neurodegeneration with movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306695 - Miscellaneous movement disorder due to neurodegenerative disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306692 - Cyanide-induced parkinsonism-dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306686 - Delayed encephalopathy due to carbon monoxide poisoning - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306727 - Postinfectious autoimmune disease with chorea - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306719 - Neurodegenerative disease with chorea - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306715 - Rare choreic movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306712 - Rare tremor disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306747 - Rare myoclonus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306741 - Hemidystonia-hemiatrophy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734 - Primary dystonia, DYT21 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306731 - Sydenham chorea - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 308166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308166 - Erythrokeratoderma variabilis progressiva - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308407 - Disorder of beta and omega amino acid metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 307711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307711 - Disease with diffuse palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307148 - Isolated diffuse palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 - Curly hair-acral keratoderma-caries syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 307804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307804 - Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307773 - Autosomal dominant diffuse mutilating palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307846 - Isolated focal palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307837 - Focal palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 - Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 307871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307871 - Disease with focal palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307995 - Marginal papular palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 307967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307967 - Punctate palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 308023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308023 - Disease with punctate palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 308013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308013 - Focal acral hyperkeratosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 308041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308041 - Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 308031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308031 - Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 309001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309001 - Disorder of carbohydrate absorption and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309005 - Disorder of lipid metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308993 - Glycerol kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308998 - Disorder of glyoxylate metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 - Combined pancreatic lipase-colipase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309115 - Disorder of fatty acid oxidation and ketogenesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 - Pancreatic triacylglycerol lipase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 - Pancreatic colipase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 - Mevalonate kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 - Disorder of lipid absorption and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 - Familial lipoprotein lipase deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 309020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 - Familial apolipoprotein C-II deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 - Chordoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308467 - Disorder of galactose metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 308463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308463 - Disorder of fructose metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592 - Macrophagic myofasciitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 308459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308459 - Disorder of glycolysis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308451 - Disorder of neutral amino acid transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308448 - Aminoacylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 308520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308520 - Glycogen storage disease due to glycogen synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 309279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309279 - Glycoproteinosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252 - Atypical Gaucher disease due to saposin C deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309337 - Lysosomal glycogen storage disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 - Sialidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309319 - Disorder of sialic acid metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309136 - Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 - Hyper-beta-alaninemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144 - Gangliosidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309127 - 3-hydroxyacyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309120 - Acyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309133 - Metabolic disease due to other fatty acid oxidation disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309130 - Disorder of carnitine cycle and carnitine transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 - GM2 gangliosidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 300547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 - Autosomal recessive infantile hypercalcemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 300552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552 - Follicular cholangitis and pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 300557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557 - Carcinoma of the ampulla of Vater - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564 - Combined pulmonary fibrosis-emphysema syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 300579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300579 - Staphylococcal toxemia - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 300501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501 - Painful orbital and systemic neurofibromas-marfanoid habitus syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504 - Onychocytic matricoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512 - Onychomatricoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300515 - Rare nail tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 - Pseudohypoaldosteronism type 2D - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 300530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 - Pseudohypoaldosteronism type 2E - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 300849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849 - Diffuse large B-cell lymphoma of the central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846 - Aggressive B-cell non-Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 - Primary cutaneous anaplastic large cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857 - T-cell/histiocyte rich large B cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878 - Hairy cell leukemia variant - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869 - Splenic diffuse red pulp small B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895 - ALK-positive anaplastic large cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888 - Diffuse large B-cell lymphoma with chronic inflammation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 - Juvenile amyotrophic lateral sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 300755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300755 - Laminopathy with striated muscle involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 300751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 300763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300763 - Laminopathy with lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 300758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300758 - Laminopathy with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 300842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842 - Indolent B-cell non-Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300766 - Laminopathy with premature aging - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 300903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903 - ALK-negative anaplastic large cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912 - Marginal zone lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 304055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304055 - Pituitary tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 306431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306431 - Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 306550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 - FADD-related immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 306553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306553 - Myospherulosis - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 306542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 306547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 - Congenital hereditary facial paralysis-variable hearing loss syndrome - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 306527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 - Isolated hereditary congenital facial paralysis - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 306516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 306511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 - Autosomal recessive spastic paraplegia type 48 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 - PTEN hamartoma tumor syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 306666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306666 - Rare parkinsonian syndrome due to neurodegenerative disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 306648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306648 - Non-infectious anterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 306644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306644 - Complication after organ transplantation - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 306640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306640 - Rare intoxication due to medical products - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 306636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306636 - Rare tumor of liver and intrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 306633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306633 - Rare tumor of gallbladder and extrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 306617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 - X-linked complicated spastic paraplegia type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 306577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577 - Hereditary sodium channelopathy-related small fibers neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 306558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 295187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187 - Zygodactyly type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193 - Zygodactyly type 4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 - Synpolydactyly type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189 - Zygodactyly type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 - Zygodactyly type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201 - Congenital vertical talus, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203 - Congenital vertical talus, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 - Synpolydactyly type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199 - Synpolydactyly type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295232 - Congenital genu flexum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295229 - Congenital genu recurvatum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295227 - Congenital elbow dislocation, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295225 - Congenital elbow dislocation, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295241 - Macrodactyly of fingers, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 - Macrodactyly of fingers, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295245 - Macrodactyly of toes, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 295243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 - Macrodactyly of toes, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 298644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644 - Disorder of thiamine metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 300179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 300319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 - Autosomal dominant Charcot-Marie-Tooth disease type 2P - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 300324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324 - Persistent polyclonal B-cell lymphocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 300298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 - Severe congenital hypochromic anemia with ringed sideroblasts - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 300305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 - 11p15.4 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 300284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 - Connective tissue disorder due to lysyl hydroxylase-3 deficiency - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 300293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 - Transient infantile hypertriglyceridemia and hepatosteatosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 300385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300385 - Pituitary carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 300493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493 - Sagliker syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 300373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373 - X-linked acrogigantism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 300382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382 - Progeroid and marfanoid aspect-lipodystrophy syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 300345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345 - Autosomal systemic lupus erythematosus - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 300359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 - PLCG2-associated antibody deficiency and immune dysregulation - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 300333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 464724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724 - Fever-associated acute infantile liver failure syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 464738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 - Basel-Vanagaite-Smirin-Yosef syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 464760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760 - Familial cavitary optic disc anomaly - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 464756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756 - Familial gastric type 1 neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 464764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464764 - Immune-mediated acquired neuromuscular junction disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 465508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 - Symptomatic form of HFE-related hemochromatosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 464282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 464306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306 - DYRK1A-related intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 464329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329 - Kaposiform lymphangiomatosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 464321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321 - Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 464318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318 - Verrucous hemangioma - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 464311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 - Intellectual disability syndrome due to a DYRK1A point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 464366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 - NEK9-related lethal skeletal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 464359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359 - Benign metanephric tumor - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 464343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343 - Catastrophic antiphospholipid syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 464336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336 - BENTA disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 464453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453 - Acquired methemoglobinemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 464443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 - COG6-CGD - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 464440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440 - Primary dystonia, DYT27 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 464370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370 - Neonatal alloimmune neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 464458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464458 - Paracetamol poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 - Lymphedema with yellow nails - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537 - Toxic epidermal necrolysis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793 - SAPHO syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 456333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 - Hereditary neuroendocrine tumor of small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 456318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 454840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 - NTHL1-related polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 454831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454831 - Acute radiation syndrome - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 454836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454836 - Avian influenza - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 454887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 - Corticobasal syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 454742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454742 - Variably protease-sensitive prionopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 454723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723 - Endometrioid carcinoma of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 454718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454718 - Holmes-Adie syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 454714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714 - Plasma cell leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 454750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 - Isolated tracheoesophageal fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 454745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 - Kuru - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 453521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 454710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710 - Anti-p200 pemphigoid - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 454706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454706 - Progressive muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 454700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700 - Acquired Creutzfeldt-Jakob disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 451602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602 - Primary cutaneous plasmacytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 451607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607 - Cutaneous pseudolymphoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 453499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 453504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 453510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 - Congenital insensitivity to pain with severe intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 450322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322 - Polyclonal hyperviscosity syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 449566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566 - Eosinophilic angiocentric fibrosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 449563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563 - IgG4-related ophthalmic disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 449400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449400 - IgG4-related aortitis - - - - 165711 - Rare abdominal surgical disease - - - - Preferential parent - - - - - - 449395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395 - IgG4-related kidney disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 449432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432 - IgG4-related submandibular gland disease - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 449427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427 - IgG4-related pachymeningitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 449280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449280 - Scedosporiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 449285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449285 - Snakebite envenomation - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 449266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449266 - Pleural empyema - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 448426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448426 - Genetic primary orthostatic hypotension - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 448264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264 - Isolated focal non-epidermolytic palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 448251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251 - Progressive autosomal recessive ataxia-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 448270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270 - Ectopia cordis - - - - 97965 - Rare surgical cardiac disease - - - - Preferential parent - - - - - - 448267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 - Regressive spondylometaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 448010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 - CAD-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 447997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 448242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 - Autosomal recessive brachyolmia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 448237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448237 - Zika virus disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 447977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977 - Progressive scapulohumeroperoneal distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 447974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 - Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 447985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447985 - Partial duplication of the short arm of chromosome 19 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 447980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 - 19p13.3 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 447954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 - Combined oxidative phosphorylation defect type 25 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 447964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964 - Autosomal dominant Charcot-Marie-Tooth disease type 2V - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 459526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459526 - Rare genetic capillary malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 459345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459345 - Immunodeficiency due to a complement cascade component deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 459348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459348 - Immunodeficiency due to a complement regulatory deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 459543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459543 - Rare genetic vascular tumor - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 459548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459548 - Rare genetic venous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 459537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459537 - Genetic complex vascular malformation with associated anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 459787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459787 - Lethal multiple congenital anomalies/dysmorphic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 458837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458837 - Rare combined vascular malformation - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 458833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833 - Common cystic lymphatic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 458844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458844 - Rare vascular malformation of major vessels - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 459051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 - Spondyloepiphyseal dysplasia, Stanescu type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 459061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 459056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 - Autosomal recessive spastic paraplegia type 75 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 459074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 458718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718 - Idiopathic spontaneous coronary artery dissection - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 458758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758 - Composite hemangioendothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 458763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763 - Retiform hemangioendothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 458768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768 - Papillary intralymphatic angioendothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 458775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458775 - Congenital hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 458785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785 - Partially involuting congenital hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 458792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 - Mixed cystic lymphatic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 458798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 - Spinocerebellar ataxia type 41 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 458803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 - Spinocerebellar ataxia type 42 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 458830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458830 - Rare capillary malformation with associated anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485 - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 - Progressive myoclonic epilepsy type 9 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 457279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260 - X-linked intellectual disability-hypotonia-movement disorder syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 457240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 - X-linked intellectual disability-short stature-overweight syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246 - Clear cell sarcoma of kidney - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 457378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 - Complex lethal osteochondrodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 457359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365 - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 457083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083 - Isolated splenogonadal fusion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077 - TAFRO syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 457095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457095 - Actinomycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 457088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088 - Predisposition to invasive fungal disease due to CARD9 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 457223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 457212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 457193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 - KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 457205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 456369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 - Polyglucosan body myopathy type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 457062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062 - Pseudohypoparathyroidism without Albright hereditary osteodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 457074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457074 - Congenital nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 457050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 - Erythrokeratodermia variabilis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629 - Short stature due to growth hormone qualitative anomaly - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 - Autosomal recessive hypohidrotic ectodermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 - Autosomal dominant hypohidrotic ectodermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437 - Vogt-Koyanagi-Harada disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 2032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032 - Idiopathic pulmonary fibrosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303 - Bronchiolitis obliterans - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 3348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3348 - Tracheobronchopathia osteochondroplastica - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 2902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902 - Idiopathic chronic eosinophilic pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 1302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302 - Cryptogenic organizing pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 - Familial exudative vitreoretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 466677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466677 - Scorpion envenomation - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 466682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682 - Euthyroid Graves orbitopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695 - Supratip dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466658 - Rare disease with malignant hyperthermia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466670 - Cyanide poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 466650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650 - Exercise-induced malignant hyperthermia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962 - SMARCA4-deficient sarcoma of thorax - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 466950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943 - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 466934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 - VPS11-related autosomal recessive hypomyelinating leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921 - Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806 - Autosomal dominant thrombocytopenia with platelet secretion defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 - Macrocephaly-intellectual disability-left ventricular non compaction syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775 - Autosomal recessive Charcot-Marie-Tooth disease type 2X - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 466768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768 - Autosomal dominant Charcot-Marie-Tooth disease type 2Z - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 - Familial patent arterial duct - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 - Autosomal recessive spastic paraplegia type 77 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 466718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718 - Martinique crinkled retinal pigment epitheliopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 465824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 - Fetal encasement syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 466084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466084 - Genetic otorhinolaryngologic disease - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 466066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466066 - Genetic hemoglobinopathy - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 466026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026 - Class I glucose-6-phosphate dehydrogenase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 468620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620 - Intellectual disability-epilepsy-extrapyramidal syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 468631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 467176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 468635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 - Cryptogenic multifocal ulcerous stenosing enteritis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 468641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 - Chronic enteropathy associated with SLCO2A1 gene - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 468661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 - Autosomal recessive spastic paraplegia type 74 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 468666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 - Isolated generalized anhidrosis with normal sweat glands - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 468678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 - White-Sutton syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 468672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 - Colobomatous macrophthalmia-microcornea syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 468726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 - Severe primary trimethylaminuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 401785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785 - Autosomal recessive spastic paraplegia type 62 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780 - Autosomal recessive spastic paraplegia type 61 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800 - Autosomal recessive spastic paraplegia type 60 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795 - Autosomal recessive spastic paraplegia type 59 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 - Proximal myopathy with extrapyramidal signs - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764 - Pancytopenia-developmental delay syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 401777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777 - Optic atrophy-intellectual disability syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 401830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830 - Autosomal recessive spastic paraplegia type 69 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835 - Autosomal recessive spastic paraplegia type 70 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840 - Autosomal recessive spastic paraplegia type 71 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805 - Autosomal recessive spastic paraplegia type 63 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 - Autosomal recessive spastic paraplegia type 64 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815 - Autosomal recessive spastic paraplegia type 66 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 - Autosomal recessive spastic paraplegia type 67 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 - Childhood-onset spasticity with hyperglycinemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 401849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 - Autosomal spastic paraplegia type 72 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401854 - Lipoic acid biosynthesis defect - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 401859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 - Lipoic acid synthetase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 401862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862 - Lipoyl transferase 1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 400008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400008 - Rare genetic female infertility - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 400003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400003 - Rare genetic disorder with obstructive azoospermia - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 399998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399998 - Male infertility due to obstructive azoospermia of genetic origin - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 399994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399994 - Rare male infertility due to adrenal disorder of genetic origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399983 - Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399980 - Rare genetic male infertility - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 399882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399882 - Rare female infertility due to an implantation defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 399877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399877 - Rare female infertility due to gonadal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 400025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400025 - Female infertility due to an implantation defect of genetic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 400022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400022 - Rare female infertility due to an anomaly of ovarian function of genetic origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 400018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400018 - Rare female infertility due to adrenal disorder of genetic origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 400011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400011 - Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 402823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402823 - Hepatitis delta - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 401920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920 - Fibrolamellar hepatocellular carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 401911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 - AXIN2-related polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 401901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 - Huntington disease-like syndrome due to C9ORF72 expansions - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942 - Familial median cleft of the upper and lower lips - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 401935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935 - 14q24.1q24.3 microdeletion syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923 - 9q31.1q31.3 microdeletion syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953 - Episodic ataxia with slurred speech - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 401945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 - Moyamoya disease with early-onset achalasia - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 401986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 - 1p31p32 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 401979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964 - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 402003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003 - Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 402007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402007 - Lichen myxedematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 401993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401993 - Cold-induced sweating syndrome-hyperthermia spectrum - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 401996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996 - Karyomegalic interstitial nephritis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 402017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017 - Acute myeloid leukemia with t(9;11)(p22;q23) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 402020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020 - Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 402014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014 - Acute myeloid leukemia with t(6;9)(p23;q34) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 402029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402029 - Primary eosinophilic gastrointestinal disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 402035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035 - Eosinophilic colitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 402023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023 - Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 402026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026 - Acute myeloid leukemia with NPM1 somatic mutations - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 402082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 - Progressive myoclonic epilepsy type 5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 402364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 402041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 - Autosomal recessive distal renal tubular acidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 402075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 - Familial bicuspid aortic valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 - Scott syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 404580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404580 - Polyarticular juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 404584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404584 - Rare genetic bone development disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404469 - Rare female infertility due to oocyte maturation defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 - Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 404466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466 - Female infertility due to zona pellucida defect - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 404451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 404443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 - Tatton-Brown-Rahman syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 - ADNP syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404577 - Genetic syndrome with limb malformations as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404574 - Genetic syndrome with limb reduction defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404571 - Dysostosis of genetic origin with limb anomaly as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404568 - Dysostosis of genetic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 404560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 - Familial atypical multiple mole melanoma syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 404553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553 - Deficiency of adenosine deaminase 2 - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 404546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 - DITRA - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 404538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404538 - X-linked distal hereditary motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 - Spinal muscular atrophy with respiratory distress type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514 - Acquired cystic disease-associated renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 404511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511 - Clear cell papillary renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 404507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507 - Chondromyxoid fibroma - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 411527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411527 - Central retinal vein occlusion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 411536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 411543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 411590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 - Wolfram-like syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 411593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411593 - Insulin autoimmune syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 411602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 - Hereditary late-onset Parkinson disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 411501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501 - Williams-Campbell syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 411515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 411777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777 - Generalized eruptive keratoacanthoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 411712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 - Maternal riboflavin deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 411788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788 - Familial isolated trichomegaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 411986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 412035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 - 13q12.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 412022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022 - Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 411696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411696 - Proton-pump inhibitor-responsive esophageal eosinophilia - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 411709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709 - Renal agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 411703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411703 - Pulmonary non-tuberculous mycobacterial infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 376724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376724 - Generalized isolated dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 371445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371445 - Genetic syndromic esophageal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 371861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371861 - Genetic hyperaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 371235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371235 - Congenital disorder of glycosylation with developmental anomaly - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371207 - Congenital disorder of glycosylation with nephropathy as a major feature - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371200 - Congenital disorder of glycosylation with skin involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371212 - Congenital disorder of glycosylation with deafness as a major feature - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 371436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371436 - Genetic neurovascular malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 371433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371433 - Genetic periodic paralysis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 371442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371442 - Sphingolipidosis with epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 371428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428 - Multicentric osteolysis-nodulosis-arthropathy spectrum - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 371364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 - Hypotonia-speech impairment-severe cognitive delay syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391711 - Persistent combined dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673 - Necrotizing enterocolitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 391677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677 - Short stature-optic atrophy-Pelger-Huët anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 391723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723 - Mucinous adenocarcinoma of the appendix - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 391799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391799 - Rare genetic dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 - Frontorhiny - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 391504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504 - Transient neonatal myasthenia gravis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391497 - Juvenile myasthenia gravis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490 - Adult-onset myasthenia gravis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 391665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 - Homozygous familial hypercholesterolemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 391655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391655 - Off-periods in Parkinson disease not responding to oral treatment - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 391651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391651 - Glomus tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 391343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 - Fatal post-viral neurodegenerative disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 391351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 - SURF1-related Charcot-Marie-Tooth disease type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366 - Growth retardation-mild developmental delay-chronic hepatitis syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 391372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 - FOXP1 Syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391381 - Disorder of asparagine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 391384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384 - Familial episodic pain syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389 - Familial episodic pain syndrome with predominantly upper body involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392 - Familial episodic pain syndrome with predominantly lower limb involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397 - Hereditary sensory and autonomic neuropathy type 7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411 - Atypical juvenile parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 - HSD10 disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 391428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 - HSD10 disease, infantile type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 391457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 - HSD10 disease, neonatal type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 391307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 391316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316 - Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 391311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311 - Susceptibility to viral and mycobacterial infections due to STAT1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 391327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327 - X-linked calvarial hyperostosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 391320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320 - East Texas bleeding disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 391330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 - X-linked osteoporosis with fractures - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 398063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063 - Refractory celiac disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 398058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058 - Squamous cell carcinoma of the penis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 398053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053 - Adenocarcinoma of the penis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 398043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043 - Malignant tumor of penis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 397973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 397968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968 - Charcot-Marie-Tooth disease type 2R - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 - Combined immunodeficiency due to MALT1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 397959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 - TCR-alpha-beta-positive T-cell deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 397951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 - Microcephaly-thin corpus callosum-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946 - Autosomal spastic paraplegia type 58 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 - MAN1B1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 397933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 - Combined immunodeficiency due to IKBKB deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 397802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397802 - T+ B+ severe combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 397755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 - Periodic paralysis with transient compartment-like syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758 - Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 397744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 - Periodic paralysis with later-onset distal motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735 - Autosomal dominant Charcot-Marie-Tooth disease type 2U - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 397692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 - Hereditary isolated aplastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 397685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 - Familial hyperprolactinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 397615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615 - Obesity due to CEP19 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 397618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618 - Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 397596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596 - Activated PI3K-delta syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 397593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 397612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 - Macrocephaly-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 397606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 - PrP systemic amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 397587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397587 - Deep dermatophytosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 394529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 399839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399839 - Rare female infertility due to a congenital hypogonadotropic hypogonadism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399831 - Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399824 - Rare disorder with obstructive azoospermia - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 399813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399813 - Male infertility due to sperm motility disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 399853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399853 - Rare female infertility due to an anomaly of ovarian function - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399849 - Rare female infertility due to an adrenal disorder - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399846 - Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399771 - Male infertility due to sperm disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 399764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399764 - Male infertility due to gonadal dysgenesis or sperm disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 399685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399685 - Rare male infertility due to testicular endocrine disorder - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399584 - Rare male infertility due to adrenal disorder - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399808 - Male infertility with teratozoospermia due to single gene mutation - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 399805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805 - Male infertility with azoospermia or oligozoospermia due to single gene mutation - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 399786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399786 - Male infertility with spermatogenesis disorder due to single gene mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 399775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399775 - Male infertility with spermatogenesis disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 399329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329 - Epiphysiolysis of the hip - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399391 - Osteochondrosis of genetic origin - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399572 - Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 399380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399380 - Osteonecrosis of genetic origin - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399388 - Avascular necrosis of genetic origin - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180 - Secondary non-traumatic avascular necrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399185 - Rare hereditary disease with avascular necrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399169 - Secondary avascular necrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399175 - Traumatic avascular necrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399307 - Idiopathic avascular necrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399319 - Osteochondrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399293 - Osteonecrosis of the jaw - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399302 - Primary avascular necrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 398987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987 - Malignant teratoma of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 399086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086 - HNRNPA1-related adult-onset distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 399081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081 - KLHL9-related early-onset distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 399103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103 - Distal nebulin myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 399096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096 - Distal anoctaminopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 399164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399164 - Avascular necrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 399158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399158 - Osteonecrosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 398934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398934 - Malignant epithelial tumor of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 398961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961 - Mucinous adenocarcinoma of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 398940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398940 - Malignant non-epithelial tumor of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 398971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398971 - Clear cell adenocarcinoma of the ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 398124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398124 - Neonatal lupus erythematosus - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 398127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398127 - Neonatal scleroderma - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 398147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398147 - Persistent idiopathic facial pain - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 398156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156 - Oculoauriculofrontonasal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 398166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166 - Focal facial dermal dysplasia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 398173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173 - Focal facial dermal dysplasia type II - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 398189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 - Focal facial dermal dysplasia type IV - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 398088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088 - Hereditary cryohydrocytosis with normal stomatin - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 398091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398091 - Secondary neonatal autoimmune disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 398097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398097 - Neonatal antiphospholipid syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 398109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398109 - Neonatal autoimmune hemolytic anemia - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 398117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398117 - Neonatal dermatomyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 435564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435564 - Genetic precocious puberty in female - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 435561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435561 - Rare precocious puberty in female - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 435554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435554 - Genetic precocious puberty - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 435609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435609 - Genetic larynx anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435606 - Genetic nose and cavum anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435603 - Genetic otorhinolaryngological malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 435612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435612 - Genetic tracheal anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 - Congenital urachal anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 - LIPE-related familial partial lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 435651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 - CIDEC-related familial partial lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 435638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 - 3p25.3 microdeletion syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 435804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 435845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845 - Lethal neonatal spasticity-epileptic encephalopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 435930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930 - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 435953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953 - Progeroid features-hepatocellular carcinoma predisposition syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 - Chronic atrial and intestinal dysrhythmia syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 435934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 - COG2-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 435938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 436141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 - HIDEA syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 436144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144 - Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 435998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 436003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 - Contractures-developmental delay-Pierre Robin syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 436159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 436151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 - Intellectual disability-expressive aphasia-facial dysmorphism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 436169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169 - Thrombomodulin-related bleeding disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 436166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 - Periodic fever-infantile enterocolitis-autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 436182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 - Microcephalic primordial dwarfism-insulin resistance syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 436245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 436242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 - Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 436252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 - Combined immunodeficiency-multiple intestinal atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 436274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 - Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 437552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552 - Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 438159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 - STAT3-related early-onset multisystem autoimmune disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 438117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 - Steel syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 438114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 - RARS-related autosomal recessive hypomyelinating leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 438075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 - Ketoacidosis due to monocarboxylate transporter-1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 438072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438072 - Disorder of keton body transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 438279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438279 - Human infection by orthopoxvirus - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 438274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274 - GCGR-related hyperglucagonemia - - - - 165711 - Rare abdominal surgical disease - - - - Preferential parent - - - - - - 438266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266 - Progressive encephalomyelitis with rigidity and myoclonus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 438216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 438213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 438207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207 - Severe autosomal recessive macrothrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 439224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439224 - ALECT2 amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 439232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232 - AApoAIV amyloidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 439212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212 - Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 439218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 - KCNQ2-related developmental and epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 439196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196 - Zinc-responsive necrolytic acral erythema - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 439202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439202 - Non-recovering obstetric brachial plexus lesion - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 439167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439167 - Placental insufficiency - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 439175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439175 - Pediatric arterial ischemic stroke - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 439762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762 - Systemic polyarteritis nodosa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 439822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 - PDE4D haploinsufficiency syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 439746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746 - Secondary polyarteritis nodosa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 439755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755 - Single-organ polyarteritis nodosa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 439729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729 - Cutaneous polyarteritis nodosa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 439737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737 - Primary polyarteritis nodosa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 439246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439246 - ABeta2M amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 439254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254 - ITM2B amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 440221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440221 - Congenital oculomotor nerve palsy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 440233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440233 - Congenital abducens nerve palsy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 439854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 439849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439849 - Autosomal recessive severe congenital neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 439881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439881 - Plastic bronchitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 440402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402 - Interstitial lung disease due to ABCA3 deficiency - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 440354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 440392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392 - Interstitial lung disease due to SP-C deficiency - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 440368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440368 - Necrotizing soft tissue infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 440713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 - Isolated sedoheptulokinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 440724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440724 - Extensive peripapillary myelinated nerve fibers - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 440727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440727 - Combined hamartoma of the retina and retinal pigment epithelium - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 440731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 - L-ferritin deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 440427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 440437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 - Familial colorectal cancer Type X - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 440701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440701 - Disorders of pentose/polyol metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 440706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 - Ribose-5-P isomerase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 441434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441434 - Syndromic hereditary optic neuropathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 441447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447 - Early-onset posterior subcapsular cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 441452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452 - Early-onset lamellar cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 440987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440987 - Isolated agenesis of gallbladder - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 443079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443079 - Central serous chorioretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 443084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443084 - Baroreflex failure - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443070 - Hemicrania continua - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073 - Charcot-Marie-Tooth disease type 2S - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 442582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582 - AH amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3276 - Disorder of plasmalogens biosynthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 3008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 - Pyruvate carboxylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 443192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192 - Classic stiff person syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595 - Centronuclear myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443180 - Spontaneous intracranial hypotension - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443173 - Postpartum psychosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443291 - HIV-associated cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=396 - Chronic hiccup - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236 - Postural orthostatic tachycardia syndrome due to NET deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552 - MODY - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=854 - Non-malignant and non-cirrhotic portal vein thrombosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 443227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443227 - Paratyphoid fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 443098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 - Hyperostosis cranialis interna - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 443095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443095 - Hyperinsulinemic hypoglycaemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 443090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090 - 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 443087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 - 46,XY difference of sex development due to testicular 17,20-desmolase deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 443167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443167 - NUT midline carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 - Brugada syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 - Severe combined immunodeficiency due to adenosine deaminase deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159 - Lymphoplasmacytic lymphoma without IgM production - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 443101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443101 - Hypothalamic adipsic hypernatraemia syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 443804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804 - Focal stiff limb syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 - PGM3-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 443909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909 - Hereditary nonpolyposis colon cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 443950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950 - DNAJB2-related Charcot-Marie-Tooth disease type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 443988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 - Ventriculomegaly-cystic kidney disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 - Autoimmune interstitial lung disease-arthritis syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 444099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099 - Autosomal dominant spastic paraplegia type 73 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 444116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444116 - Hereditary amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 444138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 - Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 444002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002 - 11q22.2q22.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 443995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 - Mandibulofacial dysostosis with alopecia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 - 46,XX ovarian dysgenesis-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051 - 20q11.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463 - Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 444490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 - Familial chylomicronemia syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 444316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316 - Idiopathic phalangeal acro-osteolysis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 444458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 - Combined oxidative phosphorylation defect type 24 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 445062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 445038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 445018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 - Combined immunodeficiency due to LRBA deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 444941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941 - Caudal regression-sirenomelia spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444916 - Pseudohypoaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 447731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731 - NIK deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 447737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 - Combined immunodeficiency due to DOCK2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 447740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740 - Aggressive periodontitis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 445197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445197 - Secondary vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 447881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447881 - Idiopathic dropped head syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 447877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 - Polymerase proofreading-related polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 447896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 - Tremor-ataxia-central hypomyelination syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 447893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 447788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447788 - Cerebral visual impairment - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 447874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447874 - Biological anomaly without phenotypic characterization - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 447795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 - Lipoyl transferase 2 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 447774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774 - Secondary sclerosing cholangitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 447771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447771 - Sclerosing cholangitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 447784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 - Mitochondrial pyruvate carrier deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 447777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447777 - Keratocystic odontogenic tumor - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 447757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757 - Autosomal dominant spastic paraplegia type 9B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 447753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 - Autosomal dominant spastic paraplegia type 9A - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 447764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764 - IgG4-related sclerosing cholangitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 447760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 - Autosomal recessive spastic paraplegia type 9B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 412066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 - PRKAR1B-related neurodegenerative dementia with intermediate filaments - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 412057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 412181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181 - Epidermolysis bullosa simplex due to BP230 deficiency - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 412069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069 - AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 412189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189 - Epidermolysis bullosa simplex due to exophilin 5 deficiency - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 412217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412217 - Dystonia-aphonia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 412206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206 - Primary failure of tooth eruption - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 418959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959 - Squamous cell carcinoma of the stomach - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 418945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945 - Carcinoma of esophagus, salivary gland type - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 418951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951 - Undifferentiated carcinoma of esophagus - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 420259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420259 - Secondary pulmonary alveolar proteinosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 420179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 - Malan overgrowth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 414726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414726 - Genetic facial cleft - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 415286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286 - Bilirubin encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 420755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420755 - Rare genetic odontal or periodontal disorder - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 420789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789 - Autoimmune encephalopathy with parasomnia and obstructive sleep apnea - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 420794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 - Cono-spondylar dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 420702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702 - Autosomal recessive severe congenital neutropenia due to CSF3R deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 420728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 - Combined oxidative phosphorylation defect type 20 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 420733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 - Combined oxidative phosphorylation defect type 21 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 420741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 - RIDDLE syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 420492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492 - Adult-onset cervical dystonia, DYT23 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 420485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485 - Cranio-cervical dystonia with laryngeal and upper-limb involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 420556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420556 - Visual snow syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 420402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420402 - Semicircular canal dehiscence syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 420611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611 - Transient myeloproliferative syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 420584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 420699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699 - Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 420686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 - Woolly hair-palmoplantar keratoderma syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 420561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 - Temple-Baraitser syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 420573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 - Severe combined immunodeficiency due to CTPS1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 420566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566 - Bleeding disorder due to CalDAG-GEFI deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 423461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 - Mucolipidosis type III alpha/beta - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 423470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 - Mucolipidosis type III gamma - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 423454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 423384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 - Severe congenital neutropenia due to JAGN1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 423306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 423717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423717 - Cutaneous larva migrans - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 423771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423771 - Rare carcinoma of stomach - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423693 - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 423712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423712 - Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 423662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423662 - Rare autonomic nervous system disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 422526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526 - Hereditary clear cell renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 - Spinocerebellar ataxia type 40 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 424065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065 - Pancreatic solid pseudopapillary neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058 - Intraductal papillary mucinous carcinoma of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080 - Undifferentiated carcinoma with osteoclast-like giant cells of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073 - Serous cystadenocarcinoma of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 - Congenital myopathy with myasthenic-like onset - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 424925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424925 - Qualitative or quantitative defects of Torsin-1A-interacting protein 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 424261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 - TOR1AIP1-related limb-girdle muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 424016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016 - Adenocarcinoma of the anal canal - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013 - Carcinoma of the anal canal - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 - Progressive myoclonic epilepsy type 8 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 424019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019 - Squamous cell carcinoma of the anal canal - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039 - Squamous cell carcinoma of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424033 - Rare epithelial tumor of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053 - Mucinous cystadenocarcinoma of the pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046 - Acinar cell carcinoma of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968 - Squamous cell carcinoma of the small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975 - Neuroendocrine tumor of the small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982 - Epithelial tumor of the appendix - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991 - Rare epithelial tumor of colon - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994 - Squamous cell carcinoma of the colon - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423998 - Rare epithelial tumor of rectum - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002 - Squamous cell carcinoma of the rectum - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010 - Epithelial tumor of anal canal - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423776 - Hereditary gastric cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786 - Undifferentiated carcinoma of stomach - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793 - Rare tumor of small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798 - Mesenchymal tumor of small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 423894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894 - Microcephaly-complex motor and sensory axonal neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 423957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957 - Rare carcinoma of small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 431140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 425368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368 - Rare epithelial tumor of small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 425003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425003 - Inherited digestive cancer-predisposing syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 425120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 - STING-associated vasculopathy with onset in infancy - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 424943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943 - Adenocarcinoma of the liver and intrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970 - Undifferentiated carcinoma of liver and intrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424933 - Rare malignant epithelial tumor of liver and intrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424936 - Carcinoma of liver and intrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991 - Adenocarcinoma of the gallbladder and extrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996 - Squamous cell carcinoma of gallbladder and extrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975 - Squamous cell carcinoma of liver and intrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 424982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982 - Biliary cystadenocarcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 431361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 431353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431353 - Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 431341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 - Patent urachus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 431344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 - Urachal sinus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 431347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 - Urachal diverticulum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 431272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272 - X-linked scapuloperoneal muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 431320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320 - Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 431329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 - Autosomal recessive spastic paraplegia type 57 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 431255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 - Scapuloperoneal spinal muscular atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 431263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431263 - Late-onset scapuloperoneal muscular dystrophy with hyaline bodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 431149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 - Combined immunodeficiency due to OX40 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 431156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431156 - Primary immunodeficiency with predisposition to severe viral infection - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 431166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166 - Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 435438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 - Progressive myoclonic epilepsy type 7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 435387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387 - Autosomal dominant Charcot-Marie-Tooth disease type 2Y - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 435372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 - Anterior urethral valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365 - Fetal lower urinary tract obstruction - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 435329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329 - Familial ossifying fibroma - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 434809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434809 - Syndrome with woolly hair - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 434786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434786 - Rare genetic autonomic nervous system disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 504476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 504523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523 - Severe combined immunodeficiency due to LAT deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 504530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530 - Combined immunodeficiency due to Moesin deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 26793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 - Very long chain acyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 29072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072 - Hereditary pheochromocytoma-paraganglioma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 29207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207 - Reactive arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 29073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073 - Multiple myeloma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 29822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29822 - Spontaneous periodic hypothermia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 30391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 - Isolated biliary atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 - Apparent mineralocorticoid excess - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724 - Idiopathic acute eosinophilic pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 - Developmental and epileptic encephalopathy with spike-wave activation in sleep - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 - Congenital myasthenic syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 - Familial hyperaldosteronism type II - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756 - Pseudohypoaldosteronism type 1 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162 - Congenital cataract-anterior segment dysgenesis syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544 - Diffuse large B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545 - Follicular lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 88 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88 - Idiopathic aplastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 - Multiple system atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 - Primary myelofibrosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=748 - Mendelian susceptibility to mycobacterial diseases - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729 - Polycythemia vera - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 25980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 - X-linked myopathy with excessive autophagy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 26137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26137 - Juvenile temporal arteritis - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 26106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 - Hereditary diffuse gastric cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 505395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505395 - Ventilator-induced diaphragmatic dysfunction - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 25968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968 - Self-limited childhood occipital epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 26790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26790 - Pseudomyxoma peritonei - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 26792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 - Short chain acyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 26791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 - Multiple acyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 26348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26348 - Acquired prothrombin deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 26349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26349 - Protein S acquired deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=831 - Congenital cervical spinal stenosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 49 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 - Penile agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 - Diphallia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674 - Accessory pancreas - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=386 - Hepatic cystic hamartoma - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641 - Multifocal motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603 - Distal myopathy, Welander type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 505227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227 - Combined immunodeficiency due to GINS1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 505237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 505208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 - 3-methylglutaconic aciduria type 8 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 - Dysferlin-related limb-girdle muscular dystrophy R2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263 - Limb-girdle muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 - Vocal cord and pharyngeal distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 505248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 - Tibial muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 508533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 508542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 508410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410 - Familial intestinal malrotation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 508512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512 - Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 508529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529 - Intermediate epidermolysis bullosa simplex with cardiomyopathy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 508523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 508476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 508498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 505652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 - CDKL5-deficiency disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 506784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506784 - Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 506334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 506358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 - Gabriele-de Vries syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 506353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 506216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506216 - Rare disorder potentially indicated for bowel transplant - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 506219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506219 - Rare disorder potentially indicated for hematopoietic stem cell transplant - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 506222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506222 - Rare disorder potentially indicated for lung transplant - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 506225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506225 - Rare disorder potentially indicated for heart transplant - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 506136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136 - Neuroendocrine neoplasm of esophagus - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 506207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506207 - Rare disorder potentially indicated for transplant - - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - Preferential parent - - - - - - 506210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506210 - Rare disorder potentially indicated for liver transplant - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 506213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506213 - Rare disorder potentially indicated for kidney transplant - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 506090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090 - Serotonin-producing neuroendocrine tumor of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 506098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098 - Neuroendocrine carcinoma of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 506112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112 - Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 506052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506052 - Neuroendocrine neoplasm of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 506060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060 - Functioning neuroendocrine tumor of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 506075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075 - Non-functioning neuroendocrine tumor of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 495274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274 - Charcot-Marie-Tooth disease type 2T - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 495844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 - C11ORF73-related autosomal recessive hypomyelinating leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 495879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879 - Congenital agenesis of the scrotum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 495930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930 - Familial monosomy 7 syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 496686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686 - Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 496689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689 - Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 496693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 494424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424 - Extracranial carotid artery aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 494428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428 - Idiopathic pleuroparenchymal fibroelastosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 494451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494451 - Vulvar basal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 494454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494454 - Vulvar adenocarcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 494444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 - DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 494448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494448 - Vulvar squamous cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 494344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 - RERE-related neurodevelopmental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 494418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494418 - Vulvar carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 494421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421 - Sacrococcygeal teratoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 494547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547 - Squamous cell carcinoma of the hypopharynx - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 494541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 - Childhood-onset benign chorea with striatal involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 494526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 - Infantile-onset generalized dyskinesia with orofacial involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 494457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494457 - Rare hyperkinetic movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 494550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550 - Squamous cell carcinoma of the larynx - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 500180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 500188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 68 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68 - Amoebiasis due to free-living amoebae - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=781 - Q fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 500150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163 - Witteveen-Kolk syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 - Inherited epidermodysplasia verruciformis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297 - Tick-borne encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 500166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 - SIN3-related intellectual disability syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182 - Chromomycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=128 - Diphyllobothriasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=283 - Demodicidosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210 - Cyclosporiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 76 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=76 - Strongyloidiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 74 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=74 - Angiostrongyliasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108 - Babesiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 78 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=78 - Ankylostomiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 - Hao-Fountain syndrome due to 16p13.2 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 - Tall stature-intellectual disability-renal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062 - Infantile-onset periodic fever-panniculitis-dermatosis syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129 - Pseudopelade of Brocq - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 - Björnstad syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 - Wagner disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 500478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478 - Squamous cell carcinoma of the oropharynx - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518 - Acute megakaryoblastic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318 - Acute erythroid leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514 - Acute monoblastic/monocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517 - Acute myelomonocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 - Graham Little-Piccardi-Lassueur syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346 - Quinquaud folliculitis decalvans - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222 - Erosive pustular dermatosis of the scalp - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 - Woolly hair - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 500548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 - Osteosclerotic metaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169 - Ringed hair disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 500533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168 - Loose anagen syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 500545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345 - Dissecting cellulitis of the scalp - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=591 - Furuncular myiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=723 - Pneumocystosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=472 - Isosporiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504 - Creeping myiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401 - Hymenolepiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=390 - Histoplasmosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400 - Cystic echinococcosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 500464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464 - Squamous cell carcinoma of the nasal cavity and paranasal sinuses - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520 - Acute promyelocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450 - Heterotaxia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529 - Roch-Leri mesosomatous lipomatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224 - Neonatal diabetes mellitus - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=826 - Sporotrichosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=879 - Tungiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 502305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305 - Cochleovestibular malformation - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 502318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318 - Cochlear nerve deficiency - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 502363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363 - Squamous cell carcinoma of the oral cavity - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 502366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366 - Squamous cell carcinoma of the lip - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 502369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502369 - Squamous cell carcinoma of oral cavity and lip - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka Syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 502434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434 - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 502437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 - 4q25 proximal deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 502499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502499 - Erythema multiforme major - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 502444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 - Alkaline ceramidase 3 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 - Normosmic congenital hypogonadotropic hypogonadism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 - Aromatase deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 - Estrogen resistance syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=873 - Desmoid tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679 - Malignant atrophic papulosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=901 - Wells syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703 - Bullous pemphigoid - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841 - Sebocystomatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817 - Peeling skin syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 - Familial multiple trichoepithelioma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735 - Porokeratosis of Mibelli - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 497906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 - Childhood-onset basal ganglia degeneration syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659 - Mutilating palmoplantar keratoderma with periorificial keratotic plaques - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 - Porokeratosis plantaris palmaris et disseminata - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 497623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 - C12ORF65-related combined oxidative phosphorylation defect - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 - Hereditary leiomyomatosis and renal cell cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 497737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 - Epidermolytic nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314 - Erythroderma desquamativum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 497757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 497764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 - Spinocerebellar ataxia type 43 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 - Lipoid proteinosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493 - Familial keratoacanthoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 497188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497188 - Diffuse intrinsic pontine glioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498 - Keratosis pilaris atrophicans - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 496916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496916 - Rare genetic hyperkinetic movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 496924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496924 - Non-inflammatory vasculopathy - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454 - Acquired ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=490 - Omphalomesenteric cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467 - Non-syndromic postaxial polydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464 - Non-syndromic preaxial polydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461 - Non-syndromic terminal transverse limb defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 - Congenital primary megaureter - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 - Urachal cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457 - Non-syndromic longitudinal limb defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 - Atresia of urethra - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454 - Dysostosis with brachydactyly with extraskeletal manifestations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 - Duplication of urethra - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451 - Dysostosis with brachydactyly without extraskeletal manifestations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498448 - Overgrowth or tall stature syndrome with skeletal involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 - Alpha delta granule deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 - Gray platelet syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 498445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498445 - Genetic inflammatory or rheumatoid-like osteoarthropathy - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722 - Hypoplasminogenemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749 - Congenital prekallikrein deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853 - Fetal and neonatal alloimmune thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483 - Congenital high-molecular-weight kininogen deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 498359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359 - Aquagenic palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852 - X-linked thrombocytopenia with normal platelets - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 498350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498350 - Syndromic biliary atresia - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 - Congenital plasminogen activator inhibitor type 1 deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 498345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498345 - Biliary atresia and associated disorders - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310 - Reflex epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 498251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251 - Menstrual cycle-dependent periodic fever - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 1332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1332 - Medullary thyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=877 - Neuroendocrine neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 73 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 - Gorham-Stout disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498228 - Phyllodes tumor of the prostate - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728 - Relapsing polychondritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467 - Non-acquired combined pituitary hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=142 - Anaplastic thyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143 - Parathyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 - Generalized glucocorticoid resistance syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 1676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 - Idiopathic pulmonary artery dilatation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666 - Dextrocardia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461 - Criss-cross heart - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1205 - Mitral atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 3192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 - Supravalvular pulmonary stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875 - Primary pediatric heart tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 499085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499085 - Chronic relapsing inflammatory optic neuritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 - Hereditary atrial fibrillation - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 - Familial atrial myxoma - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874 - Primary adult heart tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 499009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009 - Congenital syphilis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 1330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330 - Partial atrioventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 499047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499047 - Autoimmune/inflammatory optic neuropathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 1677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 - Familial idiopathic dilatation of the right atrium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 - Short rib-polydactyly syndrome type 5 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720 - Pili bifurcati - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671 - Primary cutis verticis gyrata - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864 - Trichofolliculoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 498602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602 - Sugarman brachydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 - Inherited arrhythmogenic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 498693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693 - MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470 - Non-syndromic complex polydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444 - Marie Unna hereditary hypotrichosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221 - Acquired hypertrichosis lanuginosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 498474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 - Hyaline fibromatosis syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=492 - Proliferating trichilemmal cyst - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 498477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498477 - Ectrodactyly with and without other manifestations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 498481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481 - LRP5-related primary osteoporosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499 - Kerion celsi - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 498485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485 - Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573 - Monilethrix - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 498488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 - Overgrowth syndrome with 2q37 translocation - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525 - Lichen planopilaris - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 498491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 - Non-syndromic complete hemimelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700 - Alopecia totalis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840 - Syringocystadenoma papilliferum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 498494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 - Mirror-image polydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384 - Huriez syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315 - Erythrokeratoderma ''en cocardes'' - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409 - Hyperkeratosis lenticularis perstans - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 41 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41 - Dyschromatosis symmetrica hereditaria - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 - Birt-Hogg-Dubé syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 38 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 - Acrokeratoelastoidosis of Costa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 39 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39 - Acromelanosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241 - Dyschromatosis universalis hereditaria - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 - Progressive symmetric erythrokeratodermia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 - Familial cylindromatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658 - Non-histaminic angioedema - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 3282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3282 - Multifocal atrial tachycardia - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=188 - Systemic capillary leak syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303 - Dystrophic epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305 - Junctional epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 3406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406 - Ulerythema ophryogenesis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 499182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182 - Pilomatrix carcinoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 2908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 - Kindler epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 81 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81 - Antisynthetase syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 499107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499107 - Idiopathic optic perineuritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563 - Peripartum cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=764 - Pyomyositis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 499096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499096 - Isolated optic neuritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 - Reynolds syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 499103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499103 - Recurrent idiopathic neuroretinitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838 - Susac syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=889 - Cutaneous small vessel vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482 - Kimura disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 485631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631 - Congenital bile acid synthesis defect - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 485426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426 - Isolated congenital hepatic fibrosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 486811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 - Prenatal-onset spinal muscular atrophy with congenital bone fractures - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 486815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 - Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 485418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418 - EMILIN-1-related connective tissue disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 485382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485382 - Rare genetic premature ovarian failure - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 485405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405 - 16p12.1p12.3 triplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 485350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 - CLCN4-related X-linked intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 485358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 - Propylthiouracil embryofetopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 485275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 - Acquired schizencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 482606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 - X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 482092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482092 - Rare idiopathic macular telangiectasia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 482601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601 - Adenylosuccinate synthetase-like 1-related distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 31828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31828 - Digitalis poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 31837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837 - Pulmonary venoocclusive disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 480907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 480880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 31740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740 - Hypersensitivity pneumonitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 480556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 - Isolated neonatal sclerosing cholangitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 480553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480553 - Aneurysmal bone cyst - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 480549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480549 - Non-severe combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 480541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541 - High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 31709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 - Infantile convulsions and choreoathetosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 31826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31826 - Ethylene glycol poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 480851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 - Hereditary thrombocytopenia with early-onset myelofibrosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 31827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31827 - Paraquat poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 31824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31824 - Colchicine poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 480701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480701 - Facial diplegia with paresthesias - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 480682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 - POGLUT1-related limb-girdle muscular dystrophy R21 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 31825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31825 - Methanol poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 481665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 - USP18 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 481671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481671 - Type 1 interferonopathy of childhood - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 482072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482072 - HTRA1-related cerebral small vessel disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 482077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 - HTRA1-related autosomal dominant cerebral small vessel disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 481771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481771 - Genetic alopecia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial schizencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 481152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 481662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 - Familial Chilblain lupus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 481508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481508 - Gastroenteric neuroendocrine neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 480476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 - Progressive familial intrahepatic cholestasis type 5 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 480491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 - MYO5B-related progressive familial intrahepatic cholestasis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 480483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 - Progressive familial intrahepatic cholestasis type 4 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 480524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480524 - Idiopathic peliosis hepatis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 480536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 - MSH3-related polyposis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 480531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 - Congenital portosystemic shunt - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 480506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480506 - Primary intrahepatic lithiasis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 480501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501 - Choledochal cyst - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 480520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520 - Caroli syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 480512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480512 - Idiopathic ductopenia - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 477811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811 - Rare hypercholesterolemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 477814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 477805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477805 - Genetic cardiac malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 477808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477808 - Other genetic dermis disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 477794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477794 - Syndromic constitutional thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 477797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477797 - Isolated constitutional thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 477781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477781 - Primary condylar hyperplasia - - - - 68329 - Rare maxillo-facial surgical disease - - - - Preferential parent - - - - - - 477787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 478029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 - Combined oxidative phosphorylation defect type 29 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 478042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 - Combined oxidative phosphorylation defect type 30 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 477993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 477857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857 - Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 477831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 - Kosaki overgrowth syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 478664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664 - Hereditary sensory and autonomic neuropathy type 8 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477647 - Type 1 interferonopathy - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 477650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650 - Fibroblastic rheumatism - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 477661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 - IL21-related infantile inflammatory bowel disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 477684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 - Combined oxidative phosphorylation defect type 26 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 477673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 - Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738 - Pediatric multiple sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749 - Pontine autosomal dominant microangiopathy with leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742 - Nodular fasciitis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 477759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477759 - COL4A1 or COL4A2-related cerebral small vessel disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477754 - Genetic cerebral small vessel disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477765 - COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477762 - COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477771 - Rare disorder with a moyamoya angiopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477768 - Moyamoya angiopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 477774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 - Combined oxidative phosphorylation defect type 27 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 476116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476116 - Demyelinating hereditary motor and sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 476119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 476109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476109 - Axonal hereditary motor and sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 476113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 - Combined immunodeficiency due to TFRC deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 476123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476123 - Intermediate Charcot-Marie-Tooth disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 476126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 476406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 - Congenital generalized hypercontractile muscle stiffness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 476394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394 - PMP2-related Charcot-Marie-Tooth disease type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 476403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476403 - Hypercontractile muscle stiffness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 493342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342 - Vibratory urticaria - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 488642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 - TELO2-related intellectual disability-neurodevelopmental disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 488647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647 - DDX41-related hematologic malignancy predisposition syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 488650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 - Distal myopathy, Tateyama type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 488627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 488632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 - TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 488265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 - Osteofibrous dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 488239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239 - Acute macular neuroretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 488333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333 - Autosomal dominant Charcot-Marie-Tooth disease type 2W - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 488280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280 - 14q32 duplication syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 488586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488586 - Congenital amyoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 488437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437 - SIX2-related frontonasal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 488434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 - Camptodactyly syndrome, Guadalajara type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 488613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 488594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594 - Autosomal recessive spastic paraplegia type 76 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 488191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191 - Female infertility due to oocyte meiotic arrest - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 487814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 487809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809 - Pediatric collagenous gastritis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 487825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 - Pierpont syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 486955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486955 - Rare pediatric rheumatologic disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 31205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31205 - Rat-bite fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 31204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31204 - Nocardiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 31154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154 - Hypobetalipoproteinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 31202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31202 - Melioidosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 31153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153 - Hypoalphalipoproteinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 31043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 31112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 - Dermatofibrosarcoma protuberans - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 30924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 - Primary hypomagnesemia with secondary hypocalcemia - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 30925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 - Hereditary arginine vasopressin deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 476084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 - BVES-related limb-girdle muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 476096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 - Erythrokeratodermia-cardiomyopathy syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 476093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 471383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=471383 - Genetic lethal multiple congenital anomalies/dysmorphic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 474347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474347 - Rare congenital anomaly of ventricular septum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279 - CANOMAD syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71281 - Rare central nervous system and retinal vascular disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272 - Sandifer syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273 - Renal nutcracker syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 71274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274 - Disseminated peritoneal leiomyomatosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 71275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 - Rh deficiency syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 71276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71276 - Silent sinus syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71209 - Rare soft tissue tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 71211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71211 - Neuromyelitis optica spectrum disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 - Retinal capillary malformation - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 71198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71198 - Rare pulmonary hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 71203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71203 - Autoimmune thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 71202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71202 - Rare hemorrhagic disorder due to a constitutional platelet anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 558411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558411 - Idiopathic gastroparesis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 70591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70591 - Chronic thromboembolic pulmonary hypertension - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 70592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 - Transient predisposition to invasive pyogenic bacterial infection - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 70589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589 - Bronchopulmonary dysplasia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 70590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70590 - Infantile apnea - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 70596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596 - Congenital Epstein-Barr virus infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 70593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593 - Immunodeficiency due to selective anti-polysaccharide antibody deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 70578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578 - Adult acute respiratory distress syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 70573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573 - Small cell lung cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 70568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568 - Post-transplant lymphoproliferative disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 70588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70588 - Meconium aspiration syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 70567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567 - Cholangiocarcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 557866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557866 - Rare disorder with Hirschsprung disease as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 70482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70482 - Carcinoma of esophagus - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 70476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476 - Vernal keratoconjunctivitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 70475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70475 - Radiation proctitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 69744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69744 - Circumscribed palmoplantar hypokeratosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 69745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69745 - Warty dyskeratoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 69735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 69736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736 - Bilateral acute depigmentation of the iris - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 69739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 - Athabaskan brainstem dysgenesis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 69663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663 - Low phospholipid-associated cholelithiasis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 69665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665 - Intrahepatic cholestasis of pregnancy - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 69723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 - Tyrosinemia type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 69126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 - PAPA syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 69087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 - Naegeli-Franceschetti-Jadassohn syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 69125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 - Anonychia with flexural pigmentation - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 69083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 - Ectodermal dysplasia with natal teeth, Turnpenny type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 69082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 - Odonto-tricho-ungual-digito-palmar syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 69085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 - Limb-mammary syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 69084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 - Pure hair and nail ectodermal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 69077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69077 - Rhabdoid tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 69076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 - Familial renal glucosuria - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 69078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69078 - Liposarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 69061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061 - Idiopathic steroid-sensitive nephrotic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 69063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063 - Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 67048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 - 3-methylglutaconic aciduria type 4 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 69028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028 - Dysostosis with brachydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 67046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 - 3-methylglutaconic aciduria type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 67047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 - 3-methylglutaconic aciduria type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 67044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 - Thrombocytopenia with congenital dyserythropoietic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 67045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 - X-linked intellectual disability with isolated growth hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 67042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 - Late-onset retinal degeneration - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 67043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67043 - Amoebic keratitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 67039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039 - Segmental odontomaxillary dysplasia - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 67037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67037 - Squamous cell carcinoma of head and neck - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 67038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038 - B-cell chronic lymphocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 66662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662 - Extracutaneous mastocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 66661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661 - Mast cell sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 66646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646 - Cutaneous mastocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 66637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 - Diaphanospondylodysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 66633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 - Sensorineural hearing loss-early graying-essential tremor syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 66631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 - CEDNIK syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 66630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630 - Congenital pseudoarthrosis of the clavicle - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 66628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 - Obesity due to congenital leptin deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 66627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66627 - Tenosynovial giant cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 66625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 - Cerebrooculonasal syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 66624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66624 - PANDAS - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 66529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66529 - Tako-Tsubo cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 66518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518 - Short fifth metacarpals-insulin resistance syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 65283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 - Timothy syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 562639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639 - Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 65284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 - Biotin-thiamine-responsive basal ganglia disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 65287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 - Beta-ureidopropionase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 65286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286 - 3q29 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 65681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 - Vaginal atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 65288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 65683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 - Isolated focal cortical dysplasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 65682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 - Benign recurrent intrahepatic cholestasis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 65720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720 - Arthrogryposis-severe scoliosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 65684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65684 - Monomelic amyotrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 65748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 - Multiple self-healing squamous epithelioma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 65743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 - Autosomal dominant multiple pterygium syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 65753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753 - Charcot-Marie-Tooth disease type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744 - IgG4-related thyroid disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 64745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745 - Pruritic urticarial papules and plaques of pregnancy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 64746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746 - Autosomal dominant Charcot-Marie-Tooth disease type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 - X-linked Charcot-Marie-Tooth disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 - Dejerine-Sottas syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749 - Charcot-Marie-Tooth disease type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 - Hereditary motor and sensory neuropathy type 5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 562509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 - Heme oxygenase-1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 64752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752 - Hereditary sensory and autonomic neuropathy type 5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 - Nevus comedonicus syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 562528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 64755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 - Becker nevus syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 562538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 - Autosomal recessive extra-oral halitosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 562569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 64686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686 - Tolosa-Hunt syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 64542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542 - Acrofacial dysostosis, Kennedy-Teebi type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 64280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 - Childhood absence epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 64722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64722 - Granulomatous mastitis - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 64720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64720 - Leiomyosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 64694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64694 - Trench fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 64692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64692 - Bartonella bacilliformis infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 64739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739 - Ovarian hyperstimulation syndrome - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 64734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734 - Iridocorneal endothelial syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 64743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64743 - Hepatoportal sclerosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 64742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64742 - Pleuropulmonary blastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 64741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64741 - Pulmonary blastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 561854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 - FOXG1 syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 63259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259 - Iniencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 63260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 - Craniorachischisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 63442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 - Angel-shaped phalango-epiphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 63273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 - Distal myopathy with posterior leg and anterior hand involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 63275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63275 - Pemphigoid gestationis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 63454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454 - Pattern dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 63455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63455 - Paraneoplastic pemphigus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 63443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63443 - Rare epithelial tumor of stomach - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 63446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 - Acrocapitofemoral dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 63999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63999 - IgG4-related mediastinitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 63862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862 - Schisis association - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 60039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60039 - Pudendal nerve entrapment syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 60041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041 - Congenital heart block - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 60032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60032 - Recurrent respiratory papillomatosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 60033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033 - Idiopathic bronchiectasis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 59303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 - Neonatal ichthyosis-sclerosing cholangitis syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 563954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563954 - Isolated congenital hypoglossia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 59305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305 - Gestational trophoblastic neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 563951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563951 - Isolated congenital aglossia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 59298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59298 - Schilder disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 60015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 - Enlarged parietal foramina - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 564003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003 - Osteochondrosis of the metatarsal bone - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 60025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025 - Pulmonary alveolar microlithiasis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 563991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991 - Osteochondrosis of the tarsal bone - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 60026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60026 - Pulmonary nodular lymphoid hyperplasia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 564127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564127 - Genetic nephrotic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 60030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 - Loeys-Dietz syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 59315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315 - Rhombencephalosynapsis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 60014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60014 - Argyria - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 57196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196 - Medial condensing osteitis of the clavicle - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 563690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563690 - Furuncular myiasis due to Cordylobia rodhaini - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 57146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57146 - Rare hepatic disease - - - - - 905 - Wilson disease - - - Preferential parent - - - - - - 205 - Crigler-Najjar syndrome - - - Preferential parent - - - - - - 446 - Neonatal hemochromatosis - - - Preferential parent - - - - - - 171 - Primary sclerosing cholangitis - - - Preferential parent - - - - - - 234 - Dubin-Johnson syndrome - - - Preferential parent - - - - - - 2312 - Transient familial neonatal hyperbilirubinemia - - - Preferential parent - - - - - - 131 - Budd-Chiari syndrome - - - Preferential parent - - - - - - 2137 - Autoimmune hepatitis - - - Preferential parent - - - - - - 186 - Primary biliary cholangitis - - - Preferential parent - - - - - - 3111 - Rotor syndrome - - - Preferential parent - - - - - - 172 - Progressive familial intrahepatic cholestasis - - - Preferential parent - - - - - - 2924 - Isolated polycystic liver disease - - - Preferential parent - - - - - - 890 - Hepatic veno-occlusive disease - - - Preferential parent - - - - - - 854 - Non-malignant and non-cirrhotic portal vein thrombosis - - - Preferential parent - - - - - - 386 - Hepatic cystic hamartoma - - - Preferential parent - - - - - - 35063 - Fulminant viral hepatitis - - - Preferential parent - - - - - - 48372 - Nodular regenerative hyperplasia of the liver - - - Preferential parent - - - - - - 53035 - Caroli disease - - - Preferential parent - - - - - - 59303 - Neonatal ichthyosis-sclerosing cholangitis syndrome - - - Preferential parent - - - - - - 64743 - Hepatoportal sclerosis - - - Preferential parent - - - - - - 65682 - Benign recurrent intrahepatic cholestasis - - - Preferential parent - - - - - - 69663 - Low phospholipid-associated cholelithiasis - - - Preferential parent - - - - - - 69665 - Intrahepatic cholestasis of pregnancy - - - Preferential parent - - - - - - 79095 - Congenital bile acid synthesis defect type 4 - - - Preferential parent - - - - - - 79234 - Crigler-Najjar syndrome type 1 - - - Preferential parent - - - - - - 79235 - Crigler-Najjar syndrome type 2 - - - Preferential parent - - - - - - 79301 - Congenital bile acid synthesis defect type 1 - - - Preferential parent - - - - - - 79302 - Congenital bile acid synthesis defect type 3 - - - Preferential parent - - - - - - 79303 - Congenital bile acid synthesis defect type 2 - - - Preferential parent - - - - - - 79304 - Progressive familial intrahepatic cholestasis type 2 - - - Preferential parent - - - - - - 79305 - Progressive familial intrahepatic cholestasis type 3 - - - Preferential parent - - - - - - 79306 - Progressive familial intrahepatic cholestasis type 1 - - - Preferential parent - - - - - - 90003 - Inflammatory pseudotumor of the liver - - - Preferential parent - - - - - - 90052 - Recurrent hepatitis C virus induced liver disease in liver transplant recipients - - - Preferential parent - - - - - - 90062 - Acute liver failure - - - Preferential parent - - - - - - 90073 - Hepatitis B reinfection following liver transplantation - - - Preferential parent - - - - - - 99960 - Benign recurrent intrahepatic cholestasis type 1 - - - Preferential parent - - - - - - 99961 - Benign recurrent intrahepatic cholestasis type 2 - - - Preferential parent - - - - - - 100035 - Solitary necrotic nodule of the liver - - - Preferential parent - - - - - - 101938 - Rare vascular liver disease - - - Preferential parent - - - - - - 101939 - Rare parenchymal liver disease - - - Preferential parent - - - - - - 101940 - Rare metabolic liver disease - - - Preferential parent - - - - - - 101941 - Rare biliary tract disease - - - Preferential parent - - - - - - 139507 - Dietary iron overload disease - - - Preferential parent - - - - - - 156601 - Rare genetic hepatic disease - - - Preferential parent - - - - - - 156604 - Genetic parenchymatous liver disease - - - Preferential parent - - - - - - 156607 - Genetic biliary tract disease - - - Preferential parent - - - - - - 168583 - Hereditary North American Indian childhood cirrhosis - - - Preferential parent - - - - - - 209919 - Idiopathic copper-associated cirrhosis - - - Preferential parent - - - - - - 217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - - Preferential parent - - - - - - 243367 - Acute fatty liver of pregnancy - - - Preferential parent - - - - - - 276066 - Bile acid CoA ligase deficiency and defective amidation - - - Preferential parent - - - - - - 276405 - Hyperbiliverdinemia - - - Preferential parent - - - - - - 284385 - Familial intrahepatic cholestasis - - - Preferential parent - - - - - - 300293 - Transient infantile hypertriglyceridemia and hepatosteatosis - - - Preferential parent - - - - - - 370088 - Acute infantile liver failure-multisystemic involvement syndrome - - - Preferential parent - - - - - - 391366 - Growth retardation-mild developmental delay-chronic hepatitis syndrome - - - Preferential parent - - - - - - 440987 - Isolated agenesis of gallbladder - - - Preferential parent - - - - - - 447764 - IgG4-related sclerosing cholangitis - - - Preferential parent - - - - - - 447771 - Sclerosing cholangitis - - - Preferential parent - - - - - - 447774 - Secondary sclerosing cholangitis - - - Preferential parent - - - - - - 464724 - Fever-associated acute infantile liver failure syndrome - - - Preferential parent - - - - - - 480476 - Progressive familial intrahepatic cholestasis type 5 - - - Preferential parent - - - - - - 480483 - Progressive familial intrahepatic cholestasis type 4 - - - Preferential parent - - - - - - 480491 - MYO5B-related progressive familial intrahepatic cholestasis - - - Preferential parent - - - - - - 480501 - Choledochal cyst - - - Preferential parent - - - - - - 480506 - Primary intrahepatic lithiasis - - - Preferential parent - - - - - - 480512 - Idiopathic ductopenia - - - Preferential parent - - - - - - 480520 - Caroli syndrome - - - Preferential parent - - - - - - 480556 - Isolated neonatal sclerosing cholangitis - - - Preferential parent - - - - - - 485426 - Isolated congenital hepatic fibrosis - - - Preferential parent - - - - - - 485631 - Congenital bile acid synthesis defect - - - Preferential parent - - - - - - 498345 - Biliary atresia and associated disorders - - - Preferential parent - - - - - - 498350 - Syndromic biliary atresia - - - Preferential parent - - - - - - 521219 - Mirizzi syndrome - - - Preferential parent - - - - - - 521432 - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome - - - Preferential parent - - - - - - 555434 - Fibrohistiocytic inflammatory pseudotumor of the liver - - - Preferential parent - - - - - - 555437 - Lymphoplasmacytic inflammatory pseudotumor of the liver - - - Preferential parent - - - - - - 562639 - Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome - - - Preferential parent - - - - - - 563576 - Autoimmune hepatitis type 1 - - - Preferential parent - - - - - - 563581 - Autoimmune hepatitis type 2 - - - Preferential parent - - - - - - 563589 - Seronegative autoimmune hepatitis - - - Preferential parent - - - - - - 567983 - Parenteral nutrition-associated cholestasis - - - Preferential parent - - - - - - 596937 - Portosinusoidal vascular disease - - - Preferential parent - - - - - - 596941 - Incomplete septal cirrhosis - - - Preferential parent - - - - - - 647834 - SLC40A1-related hemochromatosis - - - Preferential parent - - - - - - 648562 - Ferroportin disease - - - Preferential parent - - - - - - 648569 - Non-HFE-related hemochromatosis - - - Preferential parent - - - - - - 648581 - Digenic hemochromatosis - - - Preferential parent - - - - - - 699068 - Fontan-associated liver disease - - - Preferential parent - - - - - - 563708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 - Syndromic congenital sodium diarrhea - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 57145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57145 - SUNCT syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 563684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563684 - Furuncular myiasis due to Dermatobia hominis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 563687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563687 - Furuncular myiasis due to Cordylobia anthropophaga - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 56970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56970 - Human prion disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 563671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563671 - Mucinous cystadenoma of childhood - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 56425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56425 - Cold agglutinin disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 563676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563676 - Seromucinous cystadenoma of childhood - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 59181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 - Sorsby pseudoinflammatory fundus dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 59135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 - Laing distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 58040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58040 - Osteoblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 58017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017 - Classic hairy cell leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 57782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782 - Mazabraud syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 55595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 - TNP03-related limb-girdle muscular dystrophy D2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 55596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 - HNRNPDL-related limb-girdle muscular dystrophy D3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 54595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 - Craniopharyngioma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 54368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54368 - Sarcocystosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 54370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370 - Primary membranoproliferative glomerulonephritis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 54272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272 - Hepatocellular adenoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 563666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563666 - Serous cystadenoma of childhood - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 563612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 - Isolated exencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 563609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 - Isolated anencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 56044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56044 - Carcinoma of gallbladder and extrahepatic biliary tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 563589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563589 - Seronegative autoimmune hepatitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 55880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880 - Chondrosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 563581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563581 - Autoimmune hepatitis type 2 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 55881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881 - Adamantinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 563576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563576 - Autoimmune hepatitis type 1 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 55654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 - Hypotrichosis simplex - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 55655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55655 - Pneumococcal meningitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 79217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79217 - Other metabolic disease with skin involvement - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215 - Oligosaccharidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214 - Disorder of biogenic amine metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 - Metabolic disease involving other neurotransmitter deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 565837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565837 - Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207 - Disorder of lysosomal amino acid transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 565788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 - Infantile inflammatory bowel disease with neurological involvement - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212 - Mucolipidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 565899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 - POMGNT2-related limb-girdle muscular dystrophy R24 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 565909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 - Calpain-3-related limb-girdle muscular dystrophy D4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 79230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 - HJV or HAMP-related hemochromatosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 566067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067 - CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 79234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 - Crigler-Najjar syndrome type 1 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 - Crigler-Najjar syndrome type 2 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224 - Disorder of purine or pyrimidine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225 - Sphingolipidosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226 - Sterol metabolism disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183 - Disorder of ketolysis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185 - Disorder of ornithine or proline metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187 - Disorder of peptide metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186 - Disorder of pentose phosphate metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188 - Peroxisomal beta-oxidation disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175 - Disorder of gamma-aminobutyric acid metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174 - Disorder of fatty acid oxidation and ketone body metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177 - Gluconeogenesis disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179 - Disorder of glycerol metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178 - Glucose transport disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181 - Disorder of histidine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200 - Disorder of energy metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 565624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 - Combined oxidative phosphorylation defect type 39 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 565612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 - Primary triglyceride deposit cardiomyovasculopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 79201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201 - Glycogen storage disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 565779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - - 90053 - Complications after hematopoietic stem cell transplantation - - - Preferential parent - - - - - - 306644 - Complication after organ transplantation - - - Preferential parent - - - - - - 506210 - Rare disorder potentially indicated for liver transplant - - - Preferential parent - - - - - - 506213 - Rare disorder potentially indicated for kidney transplant - - - Preferential parent - - - - - - 506216 - Rare disorder potentially indicated for bowel transplant - - - Preferential parent - - - - - - 506219 - Rare disorder potentially indicated for hematopoietic stem cell transplant - - - Preferential parent - - - - - - 506222 - Rare disorder potentially indicated for lung transplant - - - Preferential parent - - - - - - 506225 - Rare disorder potentially indicated for heart transplant - - - Preferential parent - - - - - 506207 - Rare disorder potentially indicated for transplant - - - - Preferential parent - - - - - - 565641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565641 - Primary desmosis coli - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 79204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204 - Lipid storage disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 565782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565782 - Methotrexate toxicity - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 79190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190 - Disorder of phenylalanin or tyrosine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191 - Disorder of purine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192 - Disorder of pyridoxine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193 - Disorder of pyrimidine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194 - Disorder of serine or glycine metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195 - Sterol biosynthesis disorder - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196 - Disorder of the gamma-glutamyl cycle - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197 - Disorder of branched-chain amino acid metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 - Hydroxykynureninuria - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 - 2-aminoadipic 2-oxoadipic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153 - Idiopathic trachyonychia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 - Disseminated superficial actinic porokeratosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 - Acrokeratosis verruciformis of Hopf - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150 - Linear and whorled nevoid hypermelanosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149 - Dermochondrocorneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 79148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148 - Elastosis perforans serpiginosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147 - Familial reactive perforating collagenosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 - Familial progressive hyperpigmentation - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 - Dowling-Degos disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144 - Isolated congenital onychodysplasia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143 - Isolated congenital anonychia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 - Creatine deficiency syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173 - Disorder of methionine cycle and sulfur amino acid metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171 - Disorder of cobalamin metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168 - Disorder of bile acid synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169 - Disorder of neurotransmitter metabolism and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166 - Disorder of amino acid absorption and transport - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167 - Disorder of urea cycle metabolism and ammonia detoxification - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163 - Classic organic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161 - Disorder of carbohydrate metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158 - Cerebral organic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 - Isobutyryl-CoA dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 - Developmental malformations-deafness-dystonia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 566231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 - Eiken syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 566243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118 - Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 566393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393 - Acute mast cell leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102 - Thyrotoxic periodic paralysis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105 - Myxofibrosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 79099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099 - Interstitial granulomatous dermatitis with arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 79098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79098 - Sympathetic ophthalmia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 79101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 - Hyperprolinemia type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 566192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192 - Congenital autosomal recessive small-platelet thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 79100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 - Atrophoderma vermiculata - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 566175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 79097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 - Folinic acid-responsive seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138 - Bickerstaff brainstem encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139 - Japanese encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 79140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140 - Cutaneous neuroendocrine carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 79141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141 - Hereditary painful callosities - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 - DEND syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135 - Episodic ataxia type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136 - Episodic ataxia type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 - Trichodysplasia-amelogenesis imperfecta syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133 - Focal facial dermal dysplasia type I - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 - Hepatic veno-occlusive disease-immunodeficiency syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 566396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396 - Chronic mast cell leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 79126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126 - Acute interstitial pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 79127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127 - Respiratory bronchiolitis-interstitial lung disease syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 79128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128 - Lymphoid interstitial pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 77295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 - Odontoleukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 77296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296 - Morgagni-Stewart-Morel syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 77297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 - Majeed syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 77300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 - Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 77301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 - Monosomy 9q22.3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 567550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550 - Idiopathic multidrug-resistant nephrotic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 77828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77828 - Genetic obesity - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 567548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548 - Idiopathic steroid-resistant nephrotic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 567546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546 - Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 567544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544 - Idiopathic non-lupus full-house nephropathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 567556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567556 - Genetic systemic disease with glomerulopathy as a major feature - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 567558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567558 - Non-genetic systemic disease with glomerulopathy as a major feature - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 567552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567552 - Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 567554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567554 - Systemic disease with glomerulopathy as a major feature - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 77830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77830 - Rare genetic odontologic disease - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 567564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567564 - Nephrotic syndrome without extrarenal manifestations - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 79083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 - PPARG-related familial partial lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078 - IgG4-related dacryoadenitis and sialadenitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 567560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567560 - Systemic vasculitis associated with glomerulopathy - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 79076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 - Juvenile polyposis of infancy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 567562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567562 - Disorder with multisystemic involvement and glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 79062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062 - Disorder of amino acid and other organic acid metabolism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087 - Acquired partial lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086 - Acquired generalized lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 - AKT2-related familial partial lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 - Familial partial lipodystrophy, Köbberling type - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 567983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567983 - Parenteral nutrition-associated cholestasis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093 - Foix-Alajouanine syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 568041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568041 - Primary lymphedema without systemic or visceral involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091 - Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088 - Localized lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 75327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 - North Carolina macular dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 75373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 - Progressive bifocal chorioretinal atrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 75374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 - Bradyopsia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 75376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376 - Familial drusen - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 75377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 - Central areolar choroidal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 75378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378 - Oligocone trichromacy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 75381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381 - Cystoid macular dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 75382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382 - Oguchi disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 566847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847 - Aprosencephaly/atelencephaly spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 75389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 - Brain malformation-congenital heart disease-postaxial polydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 566841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841 - Liver adenomatosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 75391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391 - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 566857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857 - Aprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 75392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 - Periodontal Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 566852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852 - Atelencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 75497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 - X-linked Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 566862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862 - Left sided atrial isomerism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 75508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508 - Angioosteohypotrophic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 75563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 - X-linked sideroblastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 566943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943 - Mueller-Weiss syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 75565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75565 - Tropical endomyocardial fibrosis - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 75564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 - Acquired idiopathic sideroblastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 75567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75567 - Primary progressive freezing gait - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 75566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75566 - Loeffler endocarditis - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 75857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 - 6q terminal deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 75840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 - Ullrich congenital muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 77240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240 - Primary lymphedema - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 75858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 - MORM syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 77258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 - Trichorhinophalangeal syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 73271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271 - Bleeding diathesis due to a collagen receptor defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 73263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73263 - Zygomycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 73267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73267 - Non-24-hour sleep-wake syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 73256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256 - Central neurocytoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 73260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73260 - Paracoccidioidomycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 73246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 569821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 - Congenital primary lymphedema of Gordon - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 73423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73423 - Acute ackee fruit intoxication - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 569816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 - CELSR1-related late-onset primary lymphedema - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 73272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 - Growth delay due to insulin-like growth factor type 1 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 73273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 - Growth delay due to insulin-like growth factor I resistance - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 75326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326 - Familial isolated retinal arteriolar tortuosity - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 75325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 75249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 - Familial isolated restrictive cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 75110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75110 - Myiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 568065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 - EPHB4-related lymphatic-related hydrops fetalis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 - Familial platelet disorder with associated myeloid malignancy - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 568062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 - PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 - Familial thrombocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 71505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505 - Cancer-associated retinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 568047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568047 - Disorder with multisystemic involvement and primary lymphedema - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 568044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568044 - Primary lymphedema with systemic or visceral involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 568056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 568051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 - GJC2-related late-onset primary lymphedema - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 71526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 - Obesity due to pro-opiomelanocortin deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 71528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 - Obesity due to prohormone convertase I deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 71529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 - Obesity due to melanocortin 4 receptor deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 569164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164 - Angiomatoid fibrous histiocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 71517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 - Rapid-onset dystonia-parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 - Benign paroxysmal torticollis of infancy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71519 - Psychogenic movement disorders - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 71862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71862 - Inherited retinal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 71864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71864 - Muscular channelopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 71859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71859 - Rare genetic neurological disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 569248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248 - Microcystic stromal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 73229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 - HANAC syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 73224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 73245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245 - Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 73230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 - Ossification anomalies-psychomotor developmental delay syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 73217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217 - Müllerian aplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 73014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014 - Intractable diarrhea of infancy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 73223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223 - Global developmental delay-osteopenia-ectodermal defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 40366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366 - Acitretin/etretinate embryopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 40923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923 - Eales disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 39812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812 - Graft versus host disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 530849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 - Familial apolipoprotein A5 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 39041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 - Omenn syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 530838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838 - KRT1-related diffuse nonepidermolytic keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 39044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044 - Uveal melanoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 530792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792 - RELA fusion-positive ependymoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 38874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 - Dihydropyrimidinuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 37748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37748 - Schnitzler syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 530313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530313 - PIK3CA-related overgrowth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 530303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 - Progressive dementia with neuroserpin inclusion bodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 37612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 - Episodic ataxia type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 37559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37559 - Acquired kinky hair syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 530298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298 - Progressive myoclonic epilepsy with neuroserpin inclusion bodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 37553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 - Andersen-Tawil syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 37202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37202 - Interstitial cystitis - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 37042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 36913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36913 - Autoimmune hypoparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 36899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 - Myoclonus-dystonia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 68354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68354 - Rare sleep disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 68356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68356 - Leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 68346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68346 - Rare genetic skin disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 68347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68347 - Tumor of hematopoietic and lymphoid tissues - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 68341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68341 - Multiple congenital anomalies/dysmorphic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 68334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68334 - Rare hemorrhagic disorder due to a constitutional coagulation factors defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 68336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68336 - Rare genetic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 531151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151 - 9q21.13 microdeletion syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 68335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68335 - Rare chromosomal anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 68329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68329 - Rare maxillo-facial surgical disease - - - - - 141067 - Cervicofacial fibrochondroma - - - Preferential parent - - - - - - 210576 - Congenital temporomandibular joint ankylosis - - - Preferential parent - - - - - - 210581 - Temporomandibular joint anomaly - - - Preferential parent - - - - - - 306527 - Isolated hereditary congenital facial paralysis - - - Preferential parent - - - - - - 306530 - Congenital hereditary facial paralysis-variable hearing loss syndrome - - - Preferential parent - - - - - - 306553 - Myospherulosis - - - Preferential parent - - - - - - 357154 - Oral submucous fibrosis - - - Preferential parent - - - - - - 477781 - Primary condylar hyperplasia - - - Preferential parent - - - - - - 530983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 - Lamb-Shaffer syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 530995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995 - Mixed phenotype acute leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 41751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 - Bietti crystalline dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 42062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 - Iminoglycinuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 - Neurometabolic disorder due to serine deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 - Glutaric acidemia type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 - L-Arginine:glycine amidinotransferase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 - Glucose-galactose malabsorption - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 35737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 - Morning glory disc anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 35708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 - Aromatic L-amino acid decarboxylase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696 - Mitochondrial disorder due to a defect in mitochondrial protein synthesis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 - Primary lateral sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 35701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 - Mitochondrial DNA depletion syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 35687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687 - Erdheim-Chester disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 35686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35686 - Serpiginous choroiditis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 - Coenzyme Q10 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 35099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 - Non-syndromic bicoronal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 35125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 - Epidermal nevus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 35122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 - Congenital sucrase-isomaltase deficiency - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 35121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121 - Lysosomal acid phosphatase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 36388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36388 - Paraneoplastic neurologic syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 36397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36397 - Adiposis dolorosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 36412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 - Hypocomplementemic urticarial vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 36426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426 - Stevens-Johnson syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 36355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355 - Bleeding disorder due to P2Y12 defect - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 36367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 36383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 - COL4A1/2-related familial vascular leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 36386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 - Hereditary sensory and autonomic neuropathy type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 36234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36234 - Bacterial toxic-shock syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 36236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36236 - Staphylococcal scalded skin syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 36235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36235 - Staphylococcal scarlet fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 36238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36238 - Staphylococcal necrotizing pneumonia - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 36237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36237 - Bullous impetigo - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 36273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273 - Gastric linitis plastica - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 36258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258 - Buerger disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 35808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35808 - Malignant sex cord stromal tumor of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 35807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807 - Malignant germ cell tumor of ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 35909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 - Combined deficiency of factor V and factor VIII - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 35889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35889 - Acute opioid intoxication - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 36204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204 - Intestinal lymphangiectasia - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 35981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 - Polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 33572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 - 5-oxoprolinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 33543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543 - Kleine-Levin syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 33475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33475 - Meningococcal meningitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 33408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33408 - Bullous lichen planus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 535458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 - Familial GPIHBP1 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 33402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402 - Pediatric hepatocellular carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 34217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 - Naxos disease - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 34149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149 - Autosomal dominant tubulointerstitial kidney disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 34145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34145 - Immunoglobulin A nephropathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 33577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33577 - Nodular non-suppurative panniculitis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 33574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 - Glutamate-cysteine ligase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 33573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 - Gamma-glutamyl transpeptidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 33110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110 - Autosomal non-syndromic agammaglobulinemia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 33111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 - Granulomatous slack skin - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 33108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 - Lethal multiple pterygium syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 33067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 - Metaphyseal chondrodysplasia, Jansen type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 33355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 - Reticular dysgenesis - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 535453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 - Familial lipase maturation factor 1 deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 33276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276 - Kaposi sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 33314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33314 - Jessner lymphocytic infiltration of the skin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 33208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33208 - Idiopathic hypersomnia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 33226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226 - Waldenström macroglobulinemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 35093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 - Non-syndromic sagittal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 35078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078 - T-B+ severe combined immunodeficiency due to JAK3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 35063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35063 - Fulminant viral hepatitis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 35062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35062 - Severe disseminated cytomegalovirus infection in immunocompetent patients - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 34520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 - Congenital muscular dystrophy with integrin alpha-7 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 34514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 - Telethonin-related limb-girdle muscular dystrophy R7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 34516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516 - DNAJB6-related limb-girdle muscular dystrophy D1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 34592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592 - Immunodeficiency by defective expression of MHC class I - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 34528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 - Autosomal dominant primary hypomagnesemia with hypocalciuria - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 34533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34533 - Corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 536391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536391 - RASopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 536516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 - Myopathic Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 536471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471 - Spondylodysplastic Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 536545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545 - Kyphoscoliotic Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 537072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072 - PLG-related hereditary angioedema with normal C1Inh - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 32960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 - Tumor necrosis factor receptor 1 associated periodic syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 52662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52662 - Rare teratologic disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 52530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 - Pseudo-von Willebrand disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 52688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688 - Myelodysplastic syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 52429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 - Branchiootic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 538096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538096 - Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 538101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538101 - Congenital axonal neuropathy with encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 538238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538238 - Neurological channelopathy of the central nervous system due to a genetic chloride channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 52430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 52416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416 - Mantle cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 52427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 - Retinitis punctata albescens - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 52417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417 - MALT lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 52056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 - Ulnar/fibula ray defect-brachydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 53296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296 - Familial cutaneous collagenoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 53347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 - Brody myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 52994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994 - Orbital leiomyoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 53035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 - Caroli disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 52759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52759 - Vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 52901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 - Isolated follicle stimulating hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 53690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 - Congenital lactase deficiency - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 53689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 - Congenital chloride diarrhea - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 538863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863 - Classic pyoderma gangrenosum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 538756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756 - Familial multiple discoid fibromas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 538574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 53583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 53540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 - Goldmann-Favre syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 53372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372 - Hereditary geniospasm - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 53351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 - X-linked dystonia-parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 54260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 - Left ventricular noncompaction - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 54247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 - Posterior cortical atrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 538934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 - X-linked lymphoproliferative disease due to XIAP deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 54251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251 - Aseptic abscess syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 538931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931 - X-linked lymphoproliferative disease due to SAP deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 54057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057 - Thrombotic thrombocytopenic purpura - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 53739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739 - Distal hereditary motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 54028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028 - Plummer-Vinson syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 53719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719 - Cerebrofacial arteriovenous metameric syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 53721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 - Spinal arteriovenous metameric syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 53698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698 - Myosin storage myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 53715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 - Familial tumoral calcinosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 53696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696 - Arthrogryposis-anterior horn cell disease syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 538872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872 - Vegetative pyoderma gangrenosum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 53697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 - Gnathodiaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 53691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 - Congenital cornea plana - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 538869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869 - Bullous pyoderma gangrenosum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 538866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866 - Pustular pyoderma gangrenosum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 53693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 - GRACILE syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 48736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736 - Embryonal carcinoma of the central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 49041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49041 - IgG4-related retroperitoneal fibrosis - - - - 165711 - Rare abdominal surgical disease - - - - Preferential parent - - - - - - 48918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48918 - Focal myositis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 49382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 - Achromatopsia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 49042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042 - Dentinogenesis imperfecta - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 538958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 - Combined immunodeficiency due to CD70 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 538963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 - Combined immunodeficiency due to ITK deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 48471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 - Lissencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 48435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48435 - Postinfectious vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 48686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686 - Primary effusion lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 48652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 - Phelan-McDermid syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 50809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809 - Talo-patello-scaphoid osteolysis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 50810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 - Microlissencephaly-micromelia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 50812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 - Zellweger-like syndrome without peroxisomal anomalies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 50814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 - Craniolenticulosutural dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 50815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 - Branchiogenic deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 49566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 - Acquired purpura fulminans - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 49804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49804 - Lichen amyloidosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 50251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251 - Pleural mesothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 50945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 - Blomstrand lethal chondrodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 51084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084 - Torsade-de-pointes syndrome with short coupling interval - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 51083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 - Congenital short QT syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 50839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50839 - Cat-scratch disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 50943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 - Keratolytic winter erythema - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 50942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 - Striate palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 50918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50918 - Kikuchi-Fujimoto disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 52054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054 - Craniosynostosis-intracranial calcifications syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 52022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 - Potocki-Shaffer syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 52047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047 - Braddock syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 51577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 - Cobblestone lissencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 51608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608 - Generalized arterial calcification of infancy - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 51188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 - Ethylmalonic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 541423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 - Growth delay-intellectual disability-hepatopathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 51208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 - Formiminoglutamic aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 541507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507 - Anomalous origin of coronary artery from the pulmonary artery - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 541478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541478 - Anomalous aortic origin of coronary artery - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 51636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 - WHIM syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 541454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541454 - Anomalous aortic origin of the right coronary artery - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 51890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51890 - Anterior cutaneous nerve entrapment syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 541443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541443 - Anomalous aortic origin of the left coronary artery - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 542306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 542301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 - Combined immunodeficiency due to CARMIL2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 542310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310 - Leukoencephalopathy with calcifications and cysts - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 68419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68419 - Rare vascular anomaly - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 42642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642 - PFAPA syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 42665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 - Tietz syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 542323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542323 - CAR T cell therapy-associated cytokine release syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 43117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43117 - Acute tricyclic antidepressant poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 43116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43116 - Serotonin syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 542592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592 - Necrobiosis lipoidica - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 43393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393 - Lambert-Eaton myasthenic syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 43119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43119 - Acute poisoning by drugs with membrane-stabilizing effect - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 542643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643 - Livedoid vasculopathy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 42738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738 - Severe congenital neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 43115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 542568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 - Quadricuspid aortic valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 45448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 - Miyoshi myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 45453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453 - Incessant infant ventricular tachycardia - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 45452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452 - Idiopathic neonatal atrial flutter - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 542657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657 - Isolated hyperchlorhidrosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 542822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542822 - Anomaly of the coronary ostia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 44890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 - Gastrointestinal stromal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 45358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 - Congenital fibrosis of extraocular muscles - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 46487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46487 - Epidermolysis bullosa acquisita - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 544254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 - SYNGAP1-related developmental and epileptic encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 46488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46488 - Linear IgA dermatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 46485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46485 - Superficial pemphigus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 46486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486 - Mucous membrane pemphigoid - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 46348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 - Paroxysmal extreme pain disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 46484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46484 - Oligodendroglial tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 46135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135 - Primary central nervous system lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 544458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544458 - Hemolytic uremic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 47044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044 - Hereditary papillary renal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 46724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 - Cerebral arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 46627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 - Char syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 46532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 - Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 48372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372 - Nodular regenerative hyperplasia of the liver - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 48162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48162 - Lewis-Sumner syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 544493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493 - Streptococcus pneumoniae-associated hemolytic uremic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 48104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104 - Pyoderma gangrenosum - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 47612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47612 - Felty syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 544482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482 - Infection-related hemolytic uremic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 47159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159 - Proximal renal tubular acidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 544472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 - Atypical hemolytic uremic syndrome with complement gene abnormality - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 47045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 - Familial cold urticaria - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 544628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 544590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544590 - Collagen-related glomerular basement membrane disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 544602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602 - Congenital myopathy with reduced type 2 muscle fibers - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 48377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48377 - Subcorneal pustular dermatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 544578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 - Congenital primary megaureter, refluxing and obstructed form - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 68361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68361 - Rare deafness - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 68362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68362 - Rare vascular disease - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 68363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68363 - Rare dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 555402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 - NAD(P)HX dehydratase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 68364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364 - Hemoglobinopathy - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 555434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555434 - Fibrohistiocytic inflammatory pseudotumor of the liver - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 555407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 - NAD(P)HX epimerase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 68366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366 - Lysosomal disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 68367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367 - Rare inborn errors of metabolism - - - - - 61 - Alpha-mannosidosis - - - Preferential parent - - - - - - 93 - Aspartylglucosaminuria - - - Preferential parent - - - - - - 585 - Multiple sulfatase deficiency - - - Preferential parent - - - - - - 118 - Beta-mannosidosis - - - Preferential parent - - - - - - 213 - Cystinosis - - - Preferential parent - - - - - - 333 - Farber disease - - - Preferential parent - - - - - - 349 - Fucosidosis - - - Preferential parent - - - - - - 365 - Glycogen storage disease due to acid maltase deficiency - - - Preferential parent - - - - - - 366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - - Preferential parent - - - - - - 367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - - Preferential parent - - - - - - 368 - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - - Preferential parent - - - - - - 369 - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - - Preferential parent - - - - - - 371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - - Preferential parent - - - - - - 487 - Krabbe disease - - - Preferential parent - - - - - - 583 - Mucopolysaccharidosis type 6 - - - Preferential parent - - - - - - 812 - Sialidosis type 1 - - - Preferential parent - - - - - - 576 - Mucolipidosis type II - - - Preferential parent - - - - - - 577 - Mucolipidosis type III - - - Preferential parent - - - - - - 578 - Mucolipidosis type IV - - - Preferential parent - - - - - - 796 - Sandhoff disease - - - Preferential parent - - - - - - 584 - Mucopolysaccharidosis type 7 - - - Preferential parent - - - - - - 480 - Kearns-Sayre syndrome - - - Preferential parent - - - - - - 324 - Fabry disease - - - Preferential parent - - - - - - 580 - Mucopolysaccharidosis type 2 - - - Preferential parent - - - - - - 579 - Mucopolysaccharidosis type 1 - - - Preferential parent - - - - - - 664 - Ornithine transcarbamylase deficiency - - - Preferential parent - - - - - - 394 - Homocystinuria due to cystathionine beta-synthase deficiency - - - Preferential parent - - - - - - 699 - Pearson syndrome - - - Preferential parent - - - - - - 912 - Zellweger syndrome - - - Preferential parent - - - - - - 2443 - Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - - - Preferential parent - - - - - - 565 - Menkes disease - - - Preferential parent - - - - - - 868 - Triose phosphate-isomerase deficiency - - - Preferential parent - - - - - - 352 - Galactosemia - - - Preferential parent - - - - - - 370 - Glycogen storage disease due to phosphorylase kinase deficiency - - - Preferential parent - - - - - - 2609 - Isolated complex I deficiency - - - Preferential parent - - - - - - 33 - Isovaleric acidemia - - - Preferential parent - - - - - - 22 - Succinic semialdehyde dehydrogenase deficiency - - - Preferential parent - - - - - - 29 - Mevalonic aciduria - - - Preferential parent - - - - - - 30 - Hereditary orotic aciduria - - - Preferential parent - - - - - - 44 - Neonatal adrenoleukodystrophy - - - Preferential parent - - - - - - 56 - Alkaptonuria - - - Preferential parent - - - - - - 90 - Argininemia - - - Preferential parent - - - - - - 1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - - Preferential parent - - - - - - 226 - Dihydropteridine reductase deficiency - - - Preferential parent - - - - - - 45 - Adenosine monophosphate deaminase deficiency - - - Preferential parent - - - - - - 23 - Argininosuccinic aciduria - - - Preferential parent - - - - - - 147 - Carbamoyl-phosphate synthetase 1 deficiency - - - Preferential parent - - - - - - 148 - Multiple carboxylase deficiency - - - Preferential parent - - - - - - 408 - Isolated glycerol kinase deficiency - - - Preferential parent - - - - - - 395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - - Preferential parent - - - - - - 765 - Pyruvate dehydrogenase deficiency - - - Preferential parent - - - - - - 833 - Encephalopathy due to sulfite oxidase deficiency - - - Preferential parent - - - - - - 1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - - Preferential parent - - - - - - 351 - Galactosialidosis - - - Preferential parent - - - - - - 2116 - Hartnup disease - - - Preferential parent - - - - - - 2118 - Hawkinsinuria - - - Preferential parent - - - - - - 469 - Hereditary fructose intolerance - - - Preferential parent - - - - - - 506 - Leigh syndrome - - - Preferential parent - - - - - - 2971 - Peroxisomal acyl-CoA oxidase deficiency - - - Preferential parent - - - - - - 834 - Free sialic acid storage disease - - - Preferential parent - - - - - - 909 - Cerebrotendinous xanthomatosis - - - Preferential parent - - - - - - 716 - Phenylketonuria - - - Preferential parent - - - - - - 354 - GM1 gangliosidosis - - - Preferential parent - - - - - - 355 - Gaucher disease - - - Preferential parent - - - - - - 364 - Glycogen storage disease due to glucose-6-phosphatase deficiency - - - Preferential parent - - - - - - 581 - Mucopolysaccharidosis type 3 - - - Preferential parent - - - - - - 738 - Porphyria - - - Preferential parent - - - - - - 3137 - Alpha-N-acetylgalactosaminidase deficiency - - - Preferential parent - - - - - - 348 - Fructose-1,6-bisphosphatase deficiency - - - Preferential parent - - - - - - 715 - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - - Preferential parent - - - - - - 511 - Maple syrup urine disease - - - Preferential parent - - - - - - 26 - Methylmalonic acidemia with homocystinuria - - - Preferential parent - - - - - - 134 - Beta-ketothiolase deficiency - - - Preferential parent - - - - - - 57 - Glycogen storage disease due to aldolase A deficiency - - - Preferential parent - - - - - - 713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - - Preferential parent - - - - - - 43 - X-linked adrenoleukodystrophy - - - Preferential parent - - - - - - 187 - Citrullinemia - - - Preferential parent - - - - - - 2882 - Sitosterolemia - - - Preferential parent - - - - - - 3166 - Sialuria - - - Preferential parent - - - - - - 415 - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - - Preferential parent - - - - - - 13 - 6-pyruvoyl-tetrahydropterin synthase deficiency - - - Preferential parent - - - - - - 3129 - Sarcosinemia - - - Preferential parent - - - - - - 1675 - Dihydropyrimidine dehydrogenase deficiency - - - Preferential parent - - - - - - 17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - - Preferential parent - - - - - - 2102 - GTP cyclohydrolase I deficiency - - - Preferential parent - - - - - - 926 - Acatalasemia - - - Preferential parent - - - - - - 646 - Niemann-Pick disease type C - - - Preferential parent - - - - - - 582 - Mucopolysaccharidosis type 4 - - - Preferential parent - - - - - - 845 - Tay-Sachs disease - - - Preferential parent - - - - - - 157 - Carnitine palmitoyltransferase II deficiency - - - Preferential parent - - - - - - 111 - Barth syndrome - - - Preferential parent - - - - - - 2597 - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - - Preferential parent - - - - - - 2598 - Mitochondrial myopathy and sideroblastic anemia - - - Preferential parent - - - - - - 156 - Carnitine palmitoyl transferase 1A deficiency - - - Preferential parent - - - - - - 31 - Oxoglutaric aciduria - - - Preferential parent - - - - - - 939 - 3-hydroxyisobutyric aciduria - - - Preferential parent - - - - - - 27 - Vitamin B12-unresponsive methylmalonic acidemia - - - Preferential parent - - - - - - 1035 - Beta-mercaptolactate cysteine disulfiduria - - - Preferential parent - - - - - - 1361 - Carnosinase deficiency - - - Preferential parent - - - - - - 1551 - Familial benign copper deficiency - - - Preferential parent - - - - - - 382 - Guanidinoacetate methyltransferase deficiency - - - Preferential parent - - - - - - 742 - Prolidase deficiency - - - Preferential parent - - - - - - 726 - Alpers-Huttenlocher syndrome - - - Preferential parent - - - - - - 2072 - Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - - - Preferential parent - - - - - - 2158 - Histidinuria-renal tubular defect syndrome - - - Preferential parent - - - - - - 2169 - Methylcobalamin deficiency type cblE - - - Preferential parent - - - - - - 2224 - Hypertryptophanemia - - - Preferential parent - - - - - - 165 - Neutral lipid storage disease - - - Preferential parent - - - - - - 2962 - De Barsy syndrome - - - Preferential parent - - - - - - 3057 - Monoamine oxidase A deficiency - - - Preferential parent - - - - - - 3222 - Phosphoribosylpyrophosphate synthetase superactivity - - - Preferential parent - - - - - - 28 - Vitamin B12-responsive methylmalonic acidemia - - - Preferential parent - - - - - - 2089 - Glycogen storage disease due to hepatic glycogen synthase deficiency - - - Preferential parent - - - - - - 746 - Mitochondrial trifunctional protein deficiency - - - Preferential parent - - - - - - 943 - Malonic aciduria - - - Preferential parent - - - - - - 20 - 3-hydroxy-3-methylglutaric aciduria - - - Preferential parent - - - - - - 6 - 3-methylcrotonyl-CoA carboxylase deficiency - - - Preferential parent - - - - - - 832 - Succinyl-CoA:3-oxoacid CoA transferase deficiency - - - Preferential parent - - - - - - 2056 - Essential fructosuria - - - Preferential parent - - - - - - 158 - Systemic primary carnitine deficiency - - - Preferential parent - - - - - - 159 - Carnitine-acylcarnitine translocase deficiency - - - Preferential parent - - - - - - 2170 - Methylcobalamin deficiency type cblG - - - Preferential parent - - - - - - 2203 - Hyperlysinemia - - - Preferential parent - - - - - - 3124 - Saccharopinuria - - - Preferential parent - - - - - - 2157 - Histidinemia - - - Preferential parent - - - - - - 2195 - Dicarboxylic aminoaciduria - - - Preferential parent - - - - - - 2967 - Transcobalamin I deficiency - - - Preferential parent - - - - - - 941 - D-glyceric aciduria - - - Preferential parent - - - - - - 19 - 2-hydroxyglutaric aciduria - - - Preferential parent - - - - - - 2843 - Pentosuria - - - Preferential parent - - - - - - 212 - Cystathioninuria - - - Preferential parent - - - - - - 470 - Lysinuric protein intolerance - - - Preferential parent - - - - - - 622 - Homocystinuria without methylmalonic aciduria - - - Preferential parent - - - - - - 927 - Hyperammonemia due to N-acetylglutamate synthase deficiency - - - Preferential parent - - - - - - 3402 - Transient tyrosinemia of the newborn - - - Preferential parent - - - - - - 2880 - Phosphoenolpyruvate carboxykinase deficiency - - - Preferential parent - - - - - - 24 - Fumaric aciduria - - - Preferential parent - - - - - - 3208 - Isolated succinate-CoQ reductase deficiency - - - Preferential parent - - - - - - 1460 - Isolated complex III deficiency - - - Preferential parent - - - - - - 1561 - Fatal infantile cytochrome C oxidase deficiency - - - Preferential parent - - - - - - 1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - - Preferential parent - - - - - - 882 - Tyrosinemia type 1 - - - Preferential parent - - - - - - 2088 - Fanconi-Bickel syndrome - - - Preferential parent - - - - - - 137 - Congenital disorder of glycosylation - - - Preferential parent - - - - - - 5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 35 - Propionic acidemia - - - Preferential parent - - - - - - 663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - - Preferential parent - - - - - - 25 - Glutaryl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 42 - Medium chain acyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 2364 - Glycogen storage disease due to lactate dehydrogenase deficiency - - - Preferential parent - - - - - - 2066 - Gamma-aminobutyric acid transaminase deficiency - - - Preferential parent - - - - - - 300 - Bifunctional enzyme deficiency - - - Preferential parent - - - - - - 132 - Hereditary butyrylcholinesterase deficiency - - - Preferential parent - - - - - - 419 - Hyperprolinemia type 1 - - - Preferential parent - - - - - - 1194 - TMEM70-related mitochondrial encephalo-cardio-myopathy - - - Preferential parent - - - - - - 772 - Infantile Refsum disease - - - Preferential parent - - - - - - 2394 - Pyruvate dehydrogenase E3 deficiency - - - Preferential parent - - - - - - 198 - Occipital horn syndrome - - - Preferential parent - - - - - - 3008 - Pyruvate carboxylase deficiency - - - Preferential parent - - - - - - 298 - Mitochondrial neurogastrointestinal encephalomyopathy - - - Preferential parent - - - - - - 123 - Björnstad syndrome - - - Preferential parent - - - - - - 230 - Dopamine beta-hydroxylase deficiency - - - Preferential parent - - - - - - 26791 - Multiple acyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 26792 - Short chain acyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 26793 - Very long chain acyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 28378 - Tyrosinemia type 2 - - - Preferential parent - - - - - - 33572 - 5-oxoprolinase deficiency - - - Preferential parent - - - - - - 33573 - Gamma-glutamyl transpeptidase deficiency - - - Preferential parent - - - - - - 34587 - Danon disease - - - Preferential parent - - - - - - 35121 - Lysosomal acid phosphatase deficiency - - - Preferential parent - - - - - - 35656 - Coenzyme Q10 deficiency - - - Preferential parent - - - - - - 35664 - ALDH18A1-related De Barsy syndrome - - - Preferential parent - - - - - - 35696 - Mitochondrial disorder due to a defect in mitochondrial protein synthesis - - - Preferential parent - - - - - - 35698 - Mitochondrial DNA depletion syndrome - - - Preferential parent - - - - - - 35701 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - - - Preferential parent - - - - - - 35704 - L-Arginine:glycine amidinotransferase deficiency - - - Preferential parent - - - - - - 35705 - Neurometabolic disorder due to serine deficiency - - - Preferential parent - - - - - - 35706 - Glutaric acidemia type 3 - - - Preferential parent - - - - - - 35708 - Aromatic L-amino acid decarboxylase deficiency - - - Preferential parent - - - - - - 35878 - Hyperinsulinism-hyperammonemia syndrome - - - Preferential parent - - - - - - 38874 - Dihydropyrimidinuria - - - Preferential parent - - - - - - 42062 - Iminoglycinuria - - - Preferential parent - - - - - - 68366 - Lysosomal disease - - - Preferential parent - - - - - - 68373 - Peroxisomal disease - - - Preferential parent - - - - - - 68380 - Mitochondrial disease - - - Preferential parent - - - - - - 68385 - Neurometabolic disease - - - Preferential parent - - - - - - 43115 - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - - Preferential parent - - - - - - 46059 - Lathosterolosis - - - Preferential parent - - - - - - 51208 - Formiminoglutamic aciduria - - - Preferential parent - - - - - - 52503 - X-linked creatine transporter deficiency - - - Preferential parent - - - - - - 53693 - GRACILE syndrome - - - Preferential parent - - - - - - 65287 - Beta-ureidopropionase deficiency - - - Preferential parent - - - - - - 66634 - Dilated cardiomyopathy with ataxia - - - Preferential parent - - - - - - 67041 - Hyaluronidase deficiency - - - Preferential parent - - - - - - 67046 - 3-methylglutaconic aciduria type 1 - - - Preferential parent - - - - - - 67047 - 3-methylglutaconic aciduria type 3 - - - Preferential parent - - - - - - 67048 - 3-methylglutaconic aciduria type 4 - - - Preferential parent - - - - - - 69723 - Tyrosinemia type 3 - - - Preferential parent - - - - - - 70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - - Preferential parent - - - - - - 71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 75233 - Wolman disease - - - Preferential parent - - - - - - 75234 - Cholesteryl ester storage disease - - - Preferential parent - - - - - - 77259 - Gaucher disease type 1 - - - Preferential parent - - - - - - 77260 - Gaucher disease type 2 - - - Preferential parent - - - - - - 77261 - Gaucher disease type 3 - - - Preferential parent - - - - - - 77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - - Preferential parent - - - - - - 77293 - Chronic visceral acid sphingomyelinase deficiency - - - Preferential parent - - - - - - 79062 - Disorder of amino acid and other organic acid metabolism - - - Preferential parent - - - - - - 79101 - Hyperprolinemia type 2 - - - Preferential parent - - - - - - 79154 - 2-aminoadipic 2-oxoadipic aciduria - - - Preferential parent - - - - - - 79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 79158 - Cerebral organic aciduria - - - Preferential parent - - - - - - 79159 - Isobutyryl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 79161 - Disorder of carbohydrate metabolism - - - Preferential parent - - - - - - 79163 - Classic organic aciduria - - - Preferential parent - - - - - - 79166 - Disorder of amino acid absorption and transport - - - Preferential parent - - - - - - 79167 - Disorder of urea cycle metabolism and ammonia detoxification - - - Preferential parent - - - - - - 79168 - Disorder of bile acid synthesis - - - Preferential parent - - - - - - 79169 - Disorder of neurotransmitter metabolism and transport - - - Preferential parent - - - - - - 79171 - Disorder of cobalamin metabolism and transport - - - Preferential parent - - - - - - 79172 - Creatine deficiency syndrome - - - Preferential parent - - - - - - 79173 - Disorder of methionine cycle and sulfur amino acid metabolism - - - Preferential parent - - - - - - 79174 - Disorder of fatty acid oxidation and ketone body metabolism - - - Preferential parent - - - - - - 79175 - Disorder of gamma-aminobutyric acid metabolism - - - Preferential parent - - - - - - 79177 - Gluconeogenesis disorder - - - Preferential parent - - - - - - 79178 - Glucose transport disorder - - - Preferential parent - - - - - - 79179 - Disorder of glycerol metabolism - - - Preferential parent - - - - - - 79181 - Disorder of histidine metabolism - - - Preferential parent - - - - - - 79183 - Disorder of ketolysis - - - Preferential parent - - - - - - 79185 - Disorder of ornithine or proline metabolism - - - Preferential parent - - - - - - 79186 - Disorder of pentose phosphate metabolism - - - Preferential parent - - - - - - 79187 - Disorder of peptide metabolism - - - Preferential parent - - - - - - 79188 - Peroxisomal beta-oxidation disorder - - - Preferential parent - - - - - - 79189 - Peroxisome biogenesis disorder - - - Preferential parent - - - - - - 79190 - Disorder of phenylalanin or tyrosine metabolism - - - Preferential parent - - - - - - 79191 - Disorder of purine metabolism - - - Preferential parent - - - - - - 79192 - Disorder of pyridoxine metabolism - - - Preferential parent - - - - - - 79193 - Disorder of pyrimidine metabolism - - - Preferential parent - - - - - - 79194 - Disorder of serine or glycine metabolism - - - Preferential parent - - - - - - 79195 - Sterol biosynthesis disorder - - - Preferential parent - - - - - - 79196 - Disorder of the gamma-glutamyl cycle - - - Preferential parent - - - - - - 79197 - Disorder of branched-chain amino acid metabolism - - - Preferential parent - - - - - - 79200 - Disorder of energy metabolism - - - Preferential parent - - - - - - 79201 - Glycogen storage disease - - - Preferential parent - - - - - - 79204 - Lipid storage disease - - - Preferential parent - - - - - - 79207 - Disorder of lysosomal amino acid transport - - - Preferential parent - - - - - - 79212 - Mucolipidosis - - - Preferential parent - - - - - - 79213 - Mucopolysaccharidosis - - - Preferential parent - - - - - - 79214 - Disorder of biogenic amine metabolism and transport - - - Preferential parent - - - - - - 79215 - Oligosaccharidosis - - - Preferential parent - - - - - - 79217 - Other metabolic disease with skin involvement - - - Preferential parent - - - - - - 79219 - Metabolic disease involving other neurotransmitter deficiency - - - Preferential parent - - - - - - 79224 - Disorder of purine or pyrimidine metabolism - - - Preferential parent - - - - - - 79225 - Sphingolipidosis - - - Preferential parent - - - - - - 79226 - Sterol metabolism disorder - - - Preferential parent - - - - - - 79230 - HJV or HAMP-related hemochromatosis - - - Preferential parent - - - - - - 79237 - Galactokinase deficiency - - - Preferential parent - - - - - - 79238 - Galactose epimerase deficiency - - - Preferential parent - - - - - - 79239 - Classic galactosemia - - - Preferential parent - - - - - - 79240 - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - - Preferential parent - - - - - - 79241 - Biotinidase deficiency - - - Preferential parent - - - - - - 79242 - Holocarboxylase synthetase deficiency - - - Preferential parent - - - - - - 79243 - Pyruvate dehydrogenase E1-alpha deficiency - - - Preferential parent - - - - - - 79244 - Pyruvate dehydrogenase E2 deficiency - - - Preferential parent - - - - - - 79246 - Pyruvate dehydrogenase phosphatase deficiency - - - Preferential parent - - - - - - 79253 - Mild phenylketonuria - - - Preferential parent - - - - - - 79254 - Classic phenylketonuria - - - Preferential parent - - - - - - 79255 - GM1 gangliosidosis type 1 - - - Preferential parent - - - - - - 79256 - GM1 gangliosidosis type 2 - - - Preferential parent - - - - - - 79257 - GM1 gangliosidosis type 3 - - - Preferential parent - - - - - - 79258 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia - - - Preferential parent - - - - - - 79259 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib - - - Preferential parent - - - - - - 79269 - Sanfilippo syndrome type A - - - Preferential parent - - - - - - 79270 - Sanfilippo syndrome type B - - - Preferential parent - - - - - - 79271 - Sanfilippo syndrome type C - - - Preferential parent - - - - - - 79272 - Sanfilippo syndrome type D - - - Preferential parent - - - - - - 79273 - Hereditary coproporphyria - - - Preferential parent - - - - - - 79276 - Acute intermittent porphyria - - - Preferential parent - - - - - - 79277 - Congenital erythropoietic porphyria - - - Preferential parent - - - - - - 79278 - Autosomal erythropoietic protoporphyria - - - Preferential parent - - - - - - 79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - - Preferential parent - - - - - - 79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - - Preferential parent - - - - - - 79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - - Preferential parent - - - - - - 79282 - Methylmalonic acidemia with homocystinuria, type cblC - - - Preferential parent - - - - - - 79283 - Methylmalonic acidemia with homocystinuria, type cblD - - - Preferential parent - - - - - - 79284 - Methylmalonic acidemia with homocystinuria type cblF - - - Preferential parent - - - - - - 79299 - Congenital glucokinase-related hyperinsulinism - - - Preferential parent - - - - - - 79310 - Vitamin B12-responsive methylmalonic acidemia type cblA - - - Preferential parent - - - - - - 79311 - Vitamin B12-responsive methylmalonic acidemia type cblB - - - Preferential parent - - - - - - 79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - - Preferential parent - - - - - - 79314 - L-2-hydroxyglutaric aciduria - - - Preferential parent - - - - - - 79315 - D-2-hydroxyglutaric aciduria - - - Preferential parent - - - - - - 79318 - PMM2-CDG - - - Preferential parent - - - - - - 79319 - MPI-CDG - - - Preferential parent - - - - - - 79320 - ALG6-CDG - - - Preferential parent - - - - - - 79321 - ALG3-CDG - - - Preferential parent - - - - - - 79322 - DPM1-CDG - - - Preferential parent - - - - - - 79323 - MPDU1-CDG - - - Preferential parent - - - - - - 79324 - ALG12-CDG - - - Preferential parent - - - - - - 79325 - ALG8-CDG - - - Preferential parent - - - - - - 79326 - ALG2-CDG - - - Preferential parent - - - - - - 79327 - ALG1-CDG - - - Preferential parent - - - - - - 79328 - ALG9-CDG - - - Preferential parent - - - - - - 79329 - MGAT2-CDG - - - Preferential parent - - - - - - 79330 - MOGS-CDG - - - Preferential parent - - - - - - 79332 - B4GALT1-CDG - - - Preferential parent - - - - - - 79333 - COG7-CDG - - - Preferential parent - - - - - - 79473 - Variegate porphyria - - - Preferential parent - - - - - - 79507 - Hypotonia-failure to thrive-microcephaly syndrome - - - Preferential parent - - - - - - 79643 - Autosomal recessive hyperinsulinism due to SUR1 deficiency - - - Preferential parent - - - - - - 79644 - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - - Preferential parent - - - - - - 79651 - Mild hyperphenylalaninemia - - - Preferential parent - - - - - - 85212 - Fetal Gaucher disease - - - Preferential parent - - - - - - 86309 - DPAGT1-CDG - - - Preferential parent - - - - - - 87876 - Sialidosis type 2 - - - Preferential parent - - - - - - 91088 - Other metabolic disease - - - Preferential parent - - - - - - 91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - - Preferential parent - - - - - - 91131 - DK1-CDG - - - Preferential parent - - - - - - 93399 - Juvenile sialidosis type 2 - - - Preferential parent - - - - - - 93400 - Congenital sialidosis type 2 - - - Preferential parent - - - - - - 93473 - Hurler syndrome - - - Preferential parent - - - - - - 93474 - Scheie syndrome - - - Preferential parent - - - - - - 93476 - Hurler-Scheie syndrome - - - Preferential parent - - - - - - 94086 - Blue diaper syndrome - - - Preferential parent - - - - - - 95157 - Acute hepatic porphyria - - - Preferential parent - - - - - - 95159 - Hepatoerythropoietic porphyria - - - Preferential parent - - - - - - 95428 - COG8-CDG - - - Preferential parent - - - - - - 97234 - Glycogen storage disease due to phosphoglycerate mutase deficiency - - - Preferential parent - - - - - - 99731 - Isolated sulfite oxidase deficiency - - - Preferential parent - - - - - - 99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - - Preferential parent - - - - - - 99845 - Genetic recurrent myoglobinuria - - - Preferential parent - - - - - - 99849 - Glycogen storage disease due to muscle beta-enolase deficiency - - - Preferential parent - - - - - - 99901 - Acyl-CoA dehydrogenase 9 deficiency - - - Preferential parent - - - - - - 100924 - Porphyria due to ALA dehydratase deficiency - - - Preferential parent - - - - - - 101028 - Transaldolase deficiency - - - Preferential parent - - - - - - 101330 - Porphyria cutanea tarda - - - Preferential parent - - - - - - 137625 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - - Preferential parent - - - - - - 137681 - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - - Preferential parent - - - - - - 137908 - Hypotonia with lactic acidemia and hyperammonemia - - - Preferential parent - - - - - - 139396 - X-linked cerebral adrenoleukodystrophy - - - Preferential parent - - - - - - 139399 - Adrenomyeloneuropathy - - - Preferential parent - - - - - - 163631 - Bile acid synthesis defect with cholestasis and malabsorption - - - Preferential parent - - - - - - 163690 - Hypotonia-cystinuria syndrome - - - Preferential parent - - - - - - 163693 - 2p21 microdeletion syndrome - - - Preferential parent - - - - - - 165991 - Exercise-induced hyperinsulinism - - - Preferential parent - - - - - - 168566 - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - - Preferential parent - - - - - - 199285 - Hereditary hypercarotenemia and vitamin A deficiency - - - Preferential parent - - - - - - 199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - - Preferential parent - - - - - - 206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - - Preferential parent - - - - - - 206436 - Infantile Krabbe disease - - - Preferential parent - - - - - - 206443 - Late-infantile/juvenile Krabbe disease - - - Preferential parent - - - - - - 206448 - Adult Krabbe disease - - - Preferential parent - - - - - - 206583 - Adult polyglucosan body disease - - - Preferential parent - - - - - - 216972 - Niemann-Pick disease type C, severe perinatal form - - - Preferential parent - - - - - - 216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - - Preferential parent - - - - - - 216978 - Niemann-Pick disease type C, late infantile neurologic onset - - - Preferential parent - - - - - - 216981 - Niemann-Pick disease type C, juvenile neurologic onset - - - Preferential parent - - - - - - 216986 - Niemann-Pick disease type C, adult neurologic onset - - - Preferential parent - - - - - - 217085 - Mucopolysaccharidosis type 2, severe form - - - Preferential parent - - - - - - 217093 - Mucopolysaccharidosis type 2, attenuated form - - - Preferential parent - - - - - - 220489 - Rare hereditary hemochromatosis - - - Preferential parent - - - - - - 223713 - Mitochondrial oxidative phosphorylation disorder - - - Preferential parent - - - - - - 225123 - TFR2-related hemochromatosis - - - Preferential parent - - - - - - 228302 - Carnitine palmitoyl transferase II deficiency, myopathic form - - - Preferential parent - - - - - - 228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form - - - Preferential parent - - - - - - 228308 - Carnitine palmitoyl transferase II deficiency, neonatal form - - - Preferential parent - - - - - - 238459 - SLC35A1-CDG - - - Preferential parent - - - - - - 238475 - Familial hypercholanemia - - - Preferential parent - - - - - - 238517 - Hypotonia-cystinuria type 1 syndrome - - - Preferential parent - - - - - - 238523 - Atypical hypotonia-cystinuria syndrome - - - Preferential parent - - - - - - 238583 - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - - - Preferential parent - - - - - - 243343 - Dimethylglycine dehydrogenase deficiency - - - Preferential parent - - - - - - 244310 - RFT1-CDG - - - Preferential parent - - - - - - 247525 - Citrullinemia type I - - - Preferential parent - - - - - - 247546 - Acute neonatal citrullinemia type I - - - Preferential parent - - - - - - 247573 - Late-onset citrullinemia type I - - - Preferential parent - - - - - - 247582 - Citrin deficiency - - - Preferential parent - - - - - - 247585 - Citrullinemia type II - - - Preferential parent - - - - - - 247598 - Neonatal intrahepatic cholestasis due to citrin deficiency - - - Preferential parent - - - - - - 247790 - FTH1-related iron overload - - - Preferential parent - - - - - - 247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - - Preferential parent - - - - - - 251523 - Hyperzincemia and hypercalprotectinemia - - - Preferential parent - - - - - - 254746 - Pyruvate metabolism disorder - - - Preferential parent - - - - - - 254749 - Tricarboxylic acid cycle disorder - - - Preferential parent - - - - - - 254758 - Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies - - - Preferential parent - - - - - - 254767 - Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA - - - Preferential parent - - - - - - 254776 - Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA - - - Preferential parent - - - - - - 254788 - Mitochondrial DNA-related mitochondrial myopathy - - - Preferential parent - - - - - - 254803 - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - - Preferential parent - - - - - - 254807 - Multiple mitochondrial DNA deletion syndrome - - - Preferential parent - - - - - - 254822 - Mitochondrial oxidative phosphorylation disorder with no known mechanism - - - Preferential parent - - - - - - 254827 - Mitochondrial membrane transport disorder - - - Preferential parent - - - - - - 254830 - Mitochondrial substrate carrier disorder - - - Preferential parent - - - - - - 254834 - Mitochondrial protein import disorder - - - Preferential parent - - - - - - 254837 - Unspecified mitochondrial disorder - - - Preferential parent - - - - - - 254843 - Exercise intolerance with lactic acidosis - - - Preferential parent - - - - - - 254846 - Isolated oxidative phosphorylation complex disorder - - - Preferential parent - - - - - - 254851 - Mitochondrial DNA-related dystonia - - - Preferential parent - - - - - - 254854 - Pure mitochondrial myopathy - - - Preferential parent - - - - - - 254857 - Lethal infantile mitochondrial myopathy - - - Preferential parent - - - - - - 254864 - Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - - - Preferential parent - - - - - - 254871 - Mitochondrial DNA depletion syndrome, hepatocerebral form - - - Preferential parent - - - - - - 254875 - Mitochondrial DNA depletion syndrome, myopathic form - - - Preferential parent - - - - - - 254881 - Spinocerebellar ataxia with epilepsy - - - Preferential parent - - - - - - 254886 - Autosomal recessive progressive external ophthalmoplegia - - - Preferential parent - - - - - - 254892 - Autosomal dominant progressive external ophthalmoplegia - - - Preferential parent - - - - - - 254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - - Preferential parent - - - - - - 254902 - Renal tubulopathy-encephalopathy-liver failure syndrome - - - Preferential parent - - - - - - 254905 - Isolated cytochrome C oxidase deficiency - - - Preferential parent - - - - - - 254913 - Isolated ATP synthase deficiency - - - Preferential parent - - - - - - 254920 - Combined oxidative phosphorylation defect type 2 - - - Preferential parent - - - - - - 254925 - Combined oxidative phosphorylation defect type 4 - - - Preferential parent - - - - - - 254930 - Combined oxidative phosphorylation defect type 7 - - - Preferential parent - - - - - - 255138 - Pyruvate dehydrogenase E1-beta deficiency - - - Preferential parent - - - - - - 255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - - Preferential parent - - - - - - 255210 - Mitochondrial DNA-associated Leigh syndrome - - - Preferential parent - - - - - - 255229 - Navajo neurohepatopathy - - - Preferential parent - - - - - - 255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - - Preferential parent - - - - - - 263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - - Preferential parent - - - - - - 263455 - Congenital hyperinsulinism due to HNF4A deficiency - - - Preferential parent - - - - - - 263487 - COG5-CDG - - - Preferential parent - - - - - - 263494 - DPM3-CDG - - - Preferential parent - - - - - - 263501 - COG4-CDG - - - Preferential parent - - - - - - 263508 - COG1-CDG - - - Preferential parent - - - - - - 264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency - - - Preferential parent - - - - - - 268145 - Classic maple syrup urine disease - - - Preferential parent - - - - - - 268162 - Intermediate maple syrup urine disease - - - Preferential parent - - - - - - 268173 - Intermittent maple syrup urine disease - - - Preferential parent - - - - - - 268184 - Thiamine-responsive maple syrup urine disease - - - Preferential parent - - - - - - 275761 - Lysosomal acid lipase deficiency - - - Preferential parent - - - - - - 276212 - Mucopolysaccharidosis type 6, rapidly progressing - - - Preferential parent - - - - - - 276223 - Mucopolysaccharidosis type 6, slowly progressing - - - Preferential parent - - - - - - 276556 - Hyperinsulinism due to UCP2 deficiency - - - Preferential parent - - - - - - 276575 - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - - Preferential parent - - - - - - 276580 - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - - Preferential parent - - - - - - 280071 - ALG11-CDG - - - Preferential parent - - - - - - 280183 - Methylmalonic aciduria due to transcobalamin receptor defect - - - Preferential parent - - - - - - 284411 - Glycerol kinase deficiency, juvenile form - - - Preferential parent - - - - - - 284414 - Glycerol kinase deficiency, adult form - - - Preferential parent - - - - - - 284426 - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - - Preferential parent - - - - - - 284435 - Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - - - Preferential parent - - - - - - 284814 - Disorder of phenylalanine metabolism - - - Preferential parent - - - - - - 284818 - Disorder of tyrosine metabolism - - - Preferential parent - - - - - - 285657 - Disorder of folate metabolism and transport - - - Preferential parent - - - - - - 289307 - Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - - - Preferential parent - - - - - - 289504 - Combined malonic and methylmalonic acidemia - - - Preferential parent - - - - - - 289829 - Disorder of tryptophan metabolism - - - Preferential parent - - - - - - 289832 - Disorder of lysine and hydroxylysine metabolism - - - Preferential parent - - - - - - 289841 - Disorder of glutamine metabolism - - - Preferential parent - - - - - - 289866 - Disorder of proline metabolism - - - Preferential parent - - - - - - 289869 - Disorder of ornithine metabolism - - - Preferential parent - - - - - - 289877 - Transient hyperammonemia of the newborn - - - Preferential parent - - - - - - 289891 - Hypermethioninemia due to glycine N-methyltransferase deficiency - - - Preferential parent - - - - - - 289899 - Organic aciduria - - - Preferential parent - - - - - - 289902 - 3-methylglutaconic aciduria - - - Preferential parent - - - - - - 289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - - Preferential parent - - - - - - 293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - - Preferential parent - - - - - - 293355 - Methylmalonic acidemia without homocystinuria - - - Preferential parent - - - - - - 293633 - PYCR1-related De Barsy syndrome - - - Preferential parent - - - - - - 293955 - Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - - - Preferential parent - - - - - - 298644 - Disorder of thiamine metabolism and transport - - - Preferential parent - - - - - - 300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - - Preferential parent - - - - - - 300536 - DDOST-CDG - - - Preferential parent - - - - - - 308380 - Methylcobalamin deficiency type cblDv1 - - - Preferential parent - - - - - - 308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - - Preferential parent - - - - - - 308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - - Preferential parent - - - - - - 308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - - Preferential parent - - - - - - 308407 - Disorder of beta and omega amino acid metabolism - - - Preferential parent - - - - - - 308410 - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - - Preferential parent - - - - - - 308425 - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - - - Preferential parent - - - - - - 308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - - Preferential parent - - - - - - 308448 - Aminoacylase deficiency - - - Preferential parent - - - - - - 308451 - Disorder of neutral amino acid transport - - - Preferential parent - - - - - - 308459 - Disorder of glycolysis - - - Preferential parent - - - - - - 308463 - Disorder of fructose metabolism - - - Preferential parent - - - - - - 308467 - Disorder of galactose metabolism - - - Preferential parent - - - - - - 308473 - Erythrocyte galactose epimerase deficiency - - - Preferential parent - - - - - - 308487 - Generalized galactose epimerase deficiency - - - Preferential parent - - - - - - 308520 - Glycogen storage disease due to glycogen synthase deficiency - - - Preferential parent - - - - - - 308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - - Preferential parent - - - - - - 308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - - Preferential parent - - - - - - 308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - - Preferential parent - - - - - - 308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - - Preferential parent - - - - - - 308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - - Preferential parent - - - - - - 308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - - Preferential parent - - - - - - 308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - - Preferential parent - - - - - - 308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - - Preferential parent - - - - - - 308993 - Glycerol kinase deficiency - - - Preferential parent - - - - - - 308998 - Disorder of glyoxylate metabolism - - - Preferential parent - - - - - - 309001 - Disorder of carbohydrate absorption and transport - - - Preferential parent - - - - - - 309005 - Disorder of lipid metabolism - - - Preferential parent - - - - - - 309025 - Mevalonate kinase deficiency - - - Preferential parent - - - - - - 309028 - Disorder of lipid absorption and transport - - - Preferential parent - - - - - - 309031 - Pancreatic triacylglycerol lipase deficiency - - - Preferential parent - - - - - - 309108 - Pancreatic colipase deficiency - - - Preferential parent - - - - - - 309111 - Combined pancreatic lipase-colipase deficiency - - - Preferential parent - - - - - - 309115 - Disorder of fatty acid oxidation and ketogenesis - - - Preferential parent - - - - - - 309120 - Acyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 309127 - 3-hydroxyacyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 309130 - Disorder of carnitine cycle and carnitine transport - - - Preferential parent - - - - - - 309133 - Metabolic disease due to other fatty acid oxidation disorder - - - Preferential parent - - - - - - 309136 - Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes - - - Preferential parent - - - - - - 309144 - Gangliosidosis - - - Preferential parent - - - - - - 309147 - Hyper-beta-alaninemia - - - Preferential parent - - - - - - 309152 - GM2 gangliosidosis - - - Preferential parent - - - - - - 309155 - Sandhoff disease, infantile form - - - Preferential parent - - - - - - 309162 - Sandhoff disease, juvenile form - - - Preferential parent - - - - - - 309169 - Sandhoff disease, adult form - - - Preferential parent - - - - - - 309178 - Tay-Sachs disease, infantile form - - - Preferential parent - - - - - - 309185 - Tay-Sachs disease, juvenile form - - - Preferential parent - - - - - - 309192 - Tay-Sachs disease, adult form - - - Preferential parent - - - - - - 309246 - GM2 gangliosidosis, AB variant - - - Preferential parent - - - - - - 309252 - Atypical Gaucher disease due to saposin C deficiency - - - Preferential parent - - - - - - 309279 - Glycoproteinosis - - - Preferential parent - - - - - - 309282 - Alpha-mannosidosis, infantile form - - - Preferential parent - - - - - - 309288 - Alpha-mannosidosis, adult form - - - Preferential parent - - - - - - 309294 - Sialidosis - - - Preferential parent - - - - - - 309297 - Mucopolysaccharidosis type 4A - - - Preferential parent - - - - - - 309310 - Mucopolysaccharidosis type 4B - - - Preferential parent - - - - - - 309319 - Disorder of sialic acid metabolism - - - Preferential parent - - - - - - 309324 - Free sialic acid storage disease, infantile form - - - Preferential parent - - - - - - 309331 - Intermediate severe Salla disease - - - Preferential parent - - - - - - 309334 - Salla disease - - - Preferential parent - - - - - - 309337 - Lysosomal glycogen storage disease - - - Preferential parent - - - - - - 309340 - Disorder of lysosomal-related organelles - - - Preferential parent - - - - - - 309347 - Disorder of protein N-glycosylation - - - Preferential parent - - - - - - 309447 - Disorder of protein O-glycosylation - - - Preferential parent - - - - - - 309450 - Disorder of O-xylosylglycan synthesis - - - Preferential parent - - - - - - 309458 - Disorder of O-N-acetylgalactosaminylglycan synthesis - - - Preferential parent - - - - - - 309463 - Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis - - - Preferential parent - - - - - - 309469 - Disorder of O-mannosylglycan synthesis - - - Preferential parent - - - - - - 309505 - Disorder of fucoglycosan synthesis - - - Preferential parent - - - - - - 309515 - Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation - - - Preferential parent - - - - - - 309526 - Disorder of multiple glycosylation - - - Preferential parent - - - - - - 309568 - Defect in conserved oligomeric Golgi complex - - - Preferential parent - - - - - - 309778 - Defect in V-ATPase - - - Preferential parent - - - - - - 309810 - Disorder of peroxisomal alpha-, beta- and omega-oxidation - - - Preferential parent - - - - - - 309813 - Disorder of porphyrin and heme metabolism - - - Preferential parent - - - - - - 309816 - Disorder of bilirubin metabolism and excretion - - - Preferential parent - - - - - - 309819 - Disorder of pterin metabolism - - - Preferential parent - - - - - - 309824 - Disorder of metabolite absorption and transport - - - Preferential parent - - - - - - 309827 - Disorder of vitamin and non-protein cofactor absorption and transport - - - Preferential parent - - - - - - 309830 - Disorder of catecholamine synthesis - - - Preferential parent - - - - - - 309833 - Disorder of other vitamins and cofactors metabolism and transport - - - Preferential parent - - - - - - 309836 - Disorder of mineral absorption and transport - - - Preferential parent - - - - - - 309839 - Disorder of copper metabolism - - - Preferential parent - - - - - - 309842 - Disorder of iron metabolism and transport - - - Preferential parent - - - - - - 309845 - Disorder of zinc metabolism and transport - - - Preferential parent - - - - - - 309848 - Disorder of magnesium transport - - - Preferential parent - - - - - - 309851 - Disorder of manganese transport - - - Preferential parent - - - - - - 309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - - Preferential parent - - - - - - 314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - - Preferential parent - - - - - - 314667 - TMEM165-CDG - - - Preferential parent - - - - - - 319504 - Combined oxidative phosphorylation defect type 8 - - - Preferential parent - - - - - - 319509 - Combined oxidative phosphorylation defect type 9 - - - Preferential parent - - - - - - 319514 - Combined oxidative phosphorylation defect type 13 - - - Preferential parent - - - - - - 319519 - Combined oxidative phosphorylation defect type 14 - - - Preferential parent - - - - - - 319524 - Combined oxidative phosphorylation defect type 15 - - - Preferential parent - - - - - - 319646 - PGM1-CDG - - - Preferential parent - - - - - - 319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - - Preferential parent - - - - - - 324422 - ALG13-CDG - - - Preferential parent - - - - - - 324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - - Preferential parent - - - - - - 324535 - Combined oxidative phosphorylation defect type 11 - - - Preferential parent - - - - - - 324575 - Hyperinsulinism due to HNF1A deficiency - - - Preferential parent - - - - - - 324737 - SRD5A3-CDG - - - Preferential parent - - - - - - 329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - - Preferential parent - - - - - - 329314 - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - - Preferential parent - - - - - - 329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - - Preferential parent - - - - - - 329942 - Transient neonatal multiple acyl-CoA dehydrogenase deficiency - - - Preferential parent - - - - - - 352301 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis - - - Preferential parent - - - - - - 352306 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement - - - Preferential parent - - - - - - 352309 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement - - - Preferential parent - - - - - - 352312 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement - - - Preferential parent - - - - - - 352328 - MEGDEL syndrome - - - Preferential parent - - - - - - 352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - - Preferential parent - - - - - - 352456 - Mitochondrial DNA maintenance syndrome - - - Preferential parent - - - - - - 352649 - Brain dopamine-serotonin vesicular transport disease - - - Preferential parent - - - - - - 352728 - Disorder of melanin metabolism - - - Preferential parent - - - - - - 353217 - Epileptic encephalopathy with global cerebral demyelination - - - Preferential parent - - - - - - 353308 - Pyruvate carboxylase deficiency, infantile type - - - Preferential parent - - - - - - 353314 - Pyruvate carboxylase deficiency, severe neonatal type - - - Preferential parent - - - - - - 353320 - Pyruvate carboxylase deficiency, benign type - - - Preferential parent - - - - - - 356961 - SLC35A2-CDG - - - Preferential parent - - - - - - 356978 - D,L-2-hydroxyglutaric aciduria - - - Preferential parent - - - - - - 363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - - Preferential parent - - - - - - 363694 - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - - Preferential parent - - - - - - 369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - - Preferential parent - - - - - - 369913 - Combined oxidative phosphorylation defect type 17 - - - Preferential parent - - - - - - 369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - - Preferential parent - - - - - - 369962 - Methylmalonic acidemia with homocystinuria, type cblX - - - Preferential parent - - - - - - 370933 - GM3 synthase deficiency - - - Preferential parent - - - - - - 371047 - Congenital disorder of glycosylation with neurological involvement - - - Preferential parent - - - - - - 371071 - Congenital disorder of glycosylation with epilepsy as a major feature - - - Preferential parent - - - - - - 371157 - Congenital disorder of glycosylation with hepatic involvement - - - Preferential parent - - - - - - 371176 - Congenital disorder of glycosylation with dilated cardiomyopathy - - - Preferential parent - - - - - - 371183 - Congenital disorder of glycosylation with cardiac malformation as a major feature - - - Preferential parent - - - - - - 371188 - Congenital disorder of glycosylation with intestinal involvement - - - Preferential parent - - - - - - 371195 - Congenital disorder of glycosylation-related bone disorder - - - Preferential parent - - - - - - 371200 - Congenital disorder of glycosylation with skin involvement - - - Preferential parent - - - - - - 371207 - Congenital disorder of glycosylation with nephropathy as a major feature - - - Preferential parent - - - - - - 371212 - Congenital disorder of glycosylation with deafness as a major feature - - - Preferential parent - - - - - - 371235 - Congenital disorder of glycosylation with developmental anomaly - - - Preferential parent - - - - - - 391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - - Preferential parent - - - - - - 391381 - Disorder of asparagine metabolism - - - Preferential parent - - - - - - 391417 - HSD10 disease - - - Preferential parent - - - - - - 391428 - HSD10 disease, infantile type - - - Preferential parent - - - - - - 391457 - HSD10 disease, neonatal type - - - Preferential parent - - - - - - 394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - - Preferential parent - - - - - - 394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - - Preferential parent - - - - - - 397593 - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - - - Preferential parent - - - - - - 397937 - Polyglucosan body myopathy type 1 - - - Preferential parent - - - - - - 397941 - MAN1B1-CDG - - - Preferential parent - - - - - - 401854 - Lipoic acid biosynthesis defect - - - Preferential parent - - - - - - 401859 - Lipoic acid synthetase deficiency - - - Preferential parent - - - - - - 401862 - Lipoyl transferase 1 deficiency - - - Preferential parent - - - - - - 401866 - Childhood-onset spasticity with hyperglycinemia - - - Preferential parent - - - - - - 401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - - Preferential parent - - - - - - 401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - - Preferential parent - - - - - - 401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - - Preferential parent - - - - - - 411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - - Preferential parent - - - - - - 411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - - Preferential parent - - - - - - 411629 - Infantile nephropathic cystinosis - - - Preferential parent - - - - - - 411634 - Juvenile nephropathic cystinosis - - - Preferential parent - - - - - - 411641 - Ocular cystinosis - - - Preferential parent - - - - - - 411712 - Maternal riboflavin deficiency - - - Preferential parent - - - - - - 420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - - Preferential parent - - - - - - 420728 - Combined oxidative phosphorylation defect type 20 - - - Preferential parent - - - - - - 420733 - Combined oxidative phosphorylation defect type 21 - - - Preferential parent - - - - - - 423461 - Mucolipidosis type III alpha/beta - - - Preferential parent - - - - - - 423470 - Mucolipidosis type III gamma - - - Preferential parent - - - - - - 423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - - Preferential parent - - - - - - 435934 - COG2-CDG - - - Preferential parent - - - - - - 438072 - Disorder of keton body transport - - - Preferential parent - - - - - - 438075 - Ketoacidosis due to monocarboxylate transporter-1 deficiency - - - Preferential parent - - - - - - 438178 - Fatty acyl-CoA reductase 1 deficiency - - - Preferential parent - - - - - - 440701 - Disorders of pentose/polyol metabolism - - - Preferential parent - - - - - - 440713 - Isolated sedoheptulokinase deficiency - - - Preferential parent - - - - - - 3276 - Disorder of plasmalogens biosynthesis - - - Preferential parent - - - - - - 443057 - Sporadic porphyria cutanea tarda - - - Preferential parent - - - - - - 443062 - Familial porphyria cutanea tarda - - - Preferential parent - - - - - - 443197 - X-linked erythropoietic protoporphyria - - - Preferential parent - - - - - - 443811 - PGM3-CDG - - - Preferential parent - - - - - - 444013 - Combined oxidative phosphorylation defect type 23 - - - Preferential parent - - - - - - 444458 - Combined oxidative phosphorylation defect type 24 - - - Preferential parent - - - - - - 445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - - Preferential parent - - - - - - 447784 - Mitochondrial pyruvate carrier deficiency - - - Preferential parent - - - - - - 447795 - Lipoyl transferase 2 deficiency - - - Preferential parent - - - - - - 447954 - Combined oxidative phosphorylation defect type 25 - - - Preferential parent - - - - - - 448010 - CAD-CDG - - - Preferential parent - - - - - - 456369 - Polyglucosan body myopathy type 2 - - - Preferential parent - - - - - - 457223 - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - - Preferential parent - - - - - - 457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - - Preferential parent - - - - - - 464443 - COG6-CGD - - - Preferential parent - - - - - - 465508 - Symptomatic form of HFE-related hemochromatosis - - - Preferential parent - - - - - - 466703 - TMEM199-CDG - - - Preferential parent - - - - - - 466926 - Seizures-scoliosis-macrocephaly syndrome - - - Preferential parent - - - - - - 468684 - CCDC115-CDG - - - Preferential parent - - - - - - 468699 - SLC39A8-CDG - - - Preferential parent - - - - - - 468726 - Severe primary trimethylaminuria - - - Preferential parent - - - - - - 477684 - Combined oxidative phosphorylation defect type 26 - - - Preferential parent - - - - - - 477774 - Combined oxidative phosphorylation defect type 27 - - - Preferential parent - - - - - - 478029 - Combined oxidative phosphorylation defect type 29 - - - Preferential parent - - - - - - 478042 - Combined oxidative phosphorylation defect type 30 - - - Preferential parent - - - - - - 478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - - Preferential parent - - - - - - 488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - - Preferential parent - - - - - - 488618 - Transketolase deficiency - - - Preferential parent - - - - - - 488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - - Preferential parent - - - - - - 497623 - C12ORF65-related combined oxidative phosphorylation defect - - - Preferential parent - - - - - - 506334 - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - - Preferential parent - - - - - - 521268 - Sodium-dependent multivitamin transporter deficiency - - - Preferential parent - - - - - - 528091 - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome - - - Preferential parent - - - - - - 542585 - Auditory neuropathy-optic atrophy syndrome - - - Preferential parent - - - - - - 543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - - Preferential parent - - - - - - 544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - - Preferential parent - - - - - - 555402 - NAD(P)HX dehydratase deficiency - - - Preferential parent - - - - - - 555407 - NAD(P)HX epimerase deficiency - - - Preferential parent - - - - - - 562509 - Heme oxygenase-1 deficiency - - - Preferential parent - - - - - - 562538 - Autosomal recessive extra-oral halitosis - - - Preferential parent - - - - - - 569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - - Preferential parent - - - - - - 569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - - Preferential parent - - - - - - 570422 - Galactose mutarotase deficiency - - - Preferential parent - - - - - - 570491 - QRSL1-related combined oxidative phosphorylation defect - - - Preferential parent - - - - - - 572798 - WARS2-related combined oxidative phosphorylation defect - - - Preferential parent - - - - - - 583595 - Serine biosynthesis pathway deficiency, infantile/juvenile form - - - Preferential parent - - - - - - 583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - - Preferential parent - - - - - - 583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - - Preferential parent - - - - - - 583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - - Preferential parent - - - - - - 615938 - Spastic paraparesis-cataracts-speech delay syndrome - - - Preferential parent - - - - - - 618891 - Chronic neurovisceral acid sphingomyelinase deficiency - - - Preferential parent - - - - - - 618899 - Acid sphingomyelinase deficiency - - - Preferential parent - - - - - - 653880 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - - - Preferential parent - - - - - - 658813 - Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency - - - Preferential parent - - - - - - 659672 - Harderoporphyria - - - Preferential parent - - - - - - 659681 - Erythropoietic porphyria - - - Preferential parent - - - - - - 659694 - Hepatic porphyria - - - Preferential parent - - - - - - 659698 - Hepatic cutaneous porphyria - - - Preferential parent - - - - - - 662216 - Mucopolysaccharidosis type 10 - - - Preferential parent - - - - - - 692790 - ATP6AP1-CDG - - - Preferential parent - - - - - - 695110 - MAN2B2-CDG - - - Preferential parent - - - - - - 697734 - ST3GAL3-CDG - - - Preferential parent - - - - - - 555437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555437 - Lymphoplasmacytic inflammatory pseudotumor of the liver - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 68373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68373 - Peroxisomal disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 555874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874 - Congenital tricuspid valve dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 68378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68378 - Congenital limb malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 555877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 - FLNA-related X-linked myxomatous valvular dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 68381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68381 - Neuromuscular disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 555905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905 - IgA pemphigus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 68380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380 - Mitochondrial disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 68383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383 - Rare constitutional aplastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 556030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030 - Early-onset familial hypoaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 68385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68385 - Neurometabolic disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 556037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556037 - Late-onset familial hypoaldosteronism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 556985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 556508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556508 - Rare disorder due to poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 68402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68402 - Rare parkinsonian disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 557064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 557056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 68411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68411 - Rare bone tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 68416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68416 - Rare infectious disease - - - - - 2912 - Poliomyelitis - - - Preferential parent - - - - - - 673 - Malaria - - - Preferential parent - - - - - - 1247 - Schistosomiasis - - - Preferential parent - - - - - - 1163 - Aspergillosis - - - Preferential parent - - - - - - 1304 - Brucellosis - - - Preferential parent - - - - - - 173 - Cholera - - - Preferential parent - - - - - - 795 - Rare form of salmonellosis - - - Preferential parent - - - - - - 509 - Leptospirosis - - - Preferential parent - - - - - - 810 - Shigellosis - - - Preferential parent - - - - - - 863 - Trichinellosis - - - Preferential parent - - - - - - 3452 - Whipple disease - - - Preferential parent - - - - - - 3020 - Ramsay Hunt syndrome - - - Preferential parent - - - - - - 549 - Legionnaires disease - - - Preferential parent - - - - - - 284 - Alveolar echinococcosis - - - Preferential parent - - - - - - 533 - Listeriosis - - - Preferential parent - - - - - - 1489 - Whooping cough - - - Preferential parent - - - - - - 1267 - Botulism - - - Preferential parent - - - - - - 1679 - Diphtheria - - - Preferential parent - - - - - - 3389 - Tuberculosis - - - Preferential parent - - - - - - 3299 - Tetanus - - - Preferential parent - - - - - - 770 - Rabies - - - Preferential parent - - - - - - 3386 - American trypanosomiasis - - - Preferential parent - - - - - - 507 - Leishmaniasis - - - Preferential parent - - - - - - 548 - Leprosy - - - Preferential parent - - - - - - 1930 - Herpes simplex virus encephalitis - - - Preferential parent - - - - - - 1070 - Anisakiasis - - - Preferential parent - - - - - - 707 - Plague - - - Preferential parent - - - - - - 2700 - Noma - - - Preferential parent - - - - - - 292 - Congenital enterovirus infection - - - Preferential parent - - - - - - 2552 - Microsporidiosis - - - Preferential parent - - - - - - 340 - Hemorrhagic fever-renal syndrome - - - Preferential parent - - - - - - 341 - Viral hemorrhagic fever - - - Preferential parent - - - - - - 1560 - Cysticercosis - - - Preferential parent - - - - - - 3385 - African trypanosomiasis - - - Preferential parent - - - - - - 2566 - Chronic Epstein-Barr virus infection syndrome - - - Preferential parent - - - - - - 67 - Amoebiasis due to Entamoeba histolytica - - - Preferential parent - - - - - - 1546 - Cryptococcosis - - - Preferential parent - - - - - - 1685 - Distomatosis - - - Preferential parent - - - - - - 1902 - Ehrlichiosis - - - Preferential parent - - - - - - 2034 - Filariasis - - - Preferential parent - - - - - - 2583 - Mycetoma - - - Preferential parent - - - - - - 2737 - Onchocerciasis - - - Preferential parent - - - - - - 3343 - Toxocariasis - - - Preferential parent - - - - - - 3392 - Tularemia - - - Preferential parent - - - - - - 1223 - Balantidiasis - - - Preferential parent - - - - - - 231 - Dracunculiasis - - - Preferential parent - - - - - - 2035 - Lymphatic filariasis - - - Preferential parent - - - - - - 2404 - Loiasis - - - Preferential parent - - - - - - 2459 - Mansonelliasis - - - Preferential parent - - - - - - 781 - Q fever - - - Preferential parent - - - - - - 297 - Tick-borne encephalitis - - - Preferential parent - - - - - - 68 - Amoebiasis due to free-living amoebae - - - Preferential parent - - - - - - 74 - Angiostrongyliasis - - - Preferential parent - - - - - - 76 - Strongyloidiasis - - - Preferential parent - - - - - - 78 - Ankylostomiasis - - - Preferential parent - - - - - - 108 - Babesiosis - - - Preferential parent - - - - - - 128 - Diphyllobothriasis - - - Preferential parent - - - - - - 182 - Chromomycosis - - - Preferential parent - - - - - - 210 - Cyclosporiasis - - - Preferential parent - - - - - - 283 - Demodicidosis - - - Preferential parent - - - - - - 390 - Histoplasmosis - - - Preferential parent - - - - - - 400 - Cystic echinococcosis - - - Preferential parent - - - - - - 401 - Hymenolepiasis - - - Preferential parent - - - - - - 472 - Isosporiasis - - - Preferential parent - - - - - - 504 - Creeping myiasis - - - Preferential parent - - - - - - 591 - Furuncular myiasis - - - Preferential parent - - - - - - 723 - Pneumocystosis - - - Preferential parent - - - - - - 826 - Sporotrichosis - - - Preferential parent - - - - - - 879 - Tungiasis - - - Preferential parent - - - - - - 764 - Pyomyositis - - - Preferential parent - - - - - - 31202 - Melioidosis - - - Preferential parent - - - - - - 31204 - Nocardiosis - - - Preferential parent - - - - - - 31205 - Rat-bite fever - - - Preferential parent - - - - - - 33475 - Meningococcal meningitis - - - Preferential parent - - - - - - 35062 - Severe disseminated cytomegalovirus infection in immunocompetent patients - - - Preferential parent - - - - - - 36234 - Bacterial toxic-shock syndrome - - - Preferential parent - - - - - - 36235 - Staphylococcal scarlet fever - - - Preferential parent - - - - - - 36236 - Staphylococcal scalded skin syndrome - - - Preferential parent - - - - - - 36237 - Bullous impetigo - - - Preferential parent - - - - - - 36238 - Staphylococcal necrotizing pneumonia - - - Preferential parent - - - - - - 50839 - Cat-scratch disease - - - Preferential parent - - - - - - 54368 - Sarcocystosis - - - Preferential parent - - - - - - 55655 - Pneumococcal meningitis - - - Preferential parent - - - - - - 64692 - Bartonella bacilliformis infection - - - Preferential parent - - - - - - 64694 - Trench fever - - - Preferential parent - - - - - - 67043 - Amoebic keratitis - - - Preferential parent - - - - - - 70596 - Congenital Epstein-Barr virus infection - - - Preferential parent - - - - - - 73260 - Paracoccidioidomycosis - - - Preferential parent - - - - - - 73263 - Zygomycosis - - - Preferential parent - - - - - - 75110 - Myiasis - - - Preferential parent - - - - - - 79139 - Japanese encephalitis - - - Preferential parent - - - - - - 83311 - Rocky Mountain spotted fever - - - Preferential parent - - - - - - 83312 - Rickettsialpox - - - Preferential parent - - - - - - 83313 - Boutonneuse fever - - - Preferential parent - - - - - - 83314 - Epidemic typhus - - - Preferential parent - - - - - - 83315 - Murine typhus - - - Preferential parent - - - - - - 83316 - Pseudotyphus of California - - - Preferential parent - - - - - - 83317 - Scrub typhus - - - Preferential parent - - - - - - 83476 - West-Nile encephalitis - - - Preferential parent - - - - - - 83482 - Mycoplasma encephalitis - - - Preferential parent - - - - - - 83483 - La Crosse encephalitis - - - Preferential parent - - - - - - 83484 - St. Louis encephalitis - - - Preferential parent - - - - - - 83593 - Western equine encephalitis - - - Preferential parent - - - - - - 83594 - Eastern equine encephalitis - - - Preferential parent - - - - - - 83595 - Colorado tick fever - - - Preferential parent - - - - - - 83600 - Encephalitis lethargica - - - Preferential parent - - - - - - 83616 - Rubella panencephalitis - - - Preferential parent - - - - - - 90078 - Invasive infections due to vancomycin-resistant enterococci - - - Preferential parent - - - - - - 91127 - Adenovirus infection in immunocompromised patients - - - Preferential parent - - - - - - 91546 - Lyme disease - - - Preferential parent - - - - - - 91547 - Relapsing fever - - - Preferential parent - - - - - - 98010 - Infectious disease of the nervous system - - - Preferential parent - - - - - - 98252 - Infectious encephalitis - - - Preferential parent - - - - - - 99745 - Typhoid - - - Preferential parent - - - - - - 99748 - Pontiac fever - - - Preferential parent - - - - - - 99824 - Lassa fever - - - Preferential parent - - - - - - 99825 - Nipah virus disease - - - Preferential parent - - - - - - 99826 - Marburg hemorrhagic fever - - - Preferential parent - - - - - - 99827 - Crimean-Congo hemorrhagic fever - - - Preferential parent - - - - - - 99828 - Dengue fever - - - Preferential parent - - - - - - 99829 - Yellow fever - - - Preferential parent - - - - - - 99903 - Spirillary rat-bite fever - - - Preferential parent - - - - - - 99905 - Streptobacillary rat-bite fever - - - Preferential parent - - - - - - 99918 - Streptococcal toxic-shock syndrome - - - Preferential parent - - - - - - 99919 - Staphylococcal toxic-shock syndrome - - - Preferential parent - - - - - - 99983 - Cutaneous myiasis - - - Preferential parent - - - - - - 99990 - Brill-Zinsser disease - - - Preferential parent - - - - - - 99991 - Relapsing epidemic typhus - - - Preferential parent - - - - - - 101334 - African tick typhus - - - Preferential parent - - - - - - 102021 - Rickettsial disease - - - Preferential parent - - - - - - 102022 - Spotted fever rickettsiosis - - - Preferential parent - - - - - - 102023 - Typhus-group rickettsiosis - - - Preferential parent - - - - - - 137698 - Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk - - - Preferential parent - - - - - - 137839 - Lemierre syndrome - - - Preferential parent - - - - - - 163582 - Rare bacterial infectious disease - - - Preferential parent - - - - - - 163585 - Rare viral disease - - - Preferential parent - - - - - - 163588 - Rare parasitic disease - - - Preferential parent - - - - - - 163591 - Rare mycosis - - - Preferential parent - - - - - - 165955 - Wound myiasis - - - Preferential parent - - - - - - 165958 - Cavitary myiasis - - - Preferential parent - - - - - - 166291 - Dirofilariasis - - - Preferential parent - - - - - - 178475 - Wound botulism - - - Preferential parent - - - - - - 178478 - Infant botulism - - - Preferential parent - - - - - - 178481 - Intestinal botulism - - - Preferential parent - - - - - - 178487 - Adult intestinal botulism - - - Preferential parent - - - - - - 206613 - Infectious disease with peripheral neuropathy - - - Preferential parent - - - - - - 206988 - Infectious, fungal or parasitic myopathy - - - Preferential parent - - - - - - 206991 - Viral myositis - - - Preferential parent - - - - - - 206994 - Bacterial myositis - - - Preferential parent - - - - - - 206997 - Parasitic myositis - - - Preferential parent - - - - - - 207000 - Fungal myositis - - - Preferential parent - - - - - - 217260 - Progressive multifocal leukoencephalopathy - - - Preferential parent - - - - - - 228119 - Fusariosis - - - Preferential parent - - - - - - 228123 - Coccidioidomycosis - - - Preferential parent - - - - - - 228371 - Foodborne botulism - - - Preferential parent - - - - - - 230800 - Toxin-mediated infectious botulism - - - Preferential parent - - - - - - 247257 - Inhalational anthrax - - - Preferential parent - - - - - - 254504 - Inhalational botulism - - - Preferential parent - - - - - - 254509 - Iatrogenic botulism - - - Preferential parent - - - - - - 263524 - Acute necrotizing encephalopathy of childhood - - - Preferential parent - - - - - - 289326 - Tropical spastic paraparesis - - - Preferential parent - - - - - - 289347 - Infective dermatitis associated with HTLV-1 - - - Preferential parent - - - - - - 300579 - Staphylococcal toxemia - - - Preferential parent - - - - - - 319213 - Lujo hemorrhagic fever - - - Preferential parent - - - - - - 319218 - Ebola hemorrhagic fever - - - Preferential parent - - - - - - 319223 - Argentine hemorrhagic fever - - - Preferential parent - - - - - - 319229 - Bolivian hemorrhagic fever - - - Preferential parent - - - - - - 319234 - Venezuelan hemorrhagic fever - - - Preferential parent - - - - - - 319239 - Brazilian hemorrhagic fever - - - Preferential parent - - - - - - 319244 - Chapare hemorrhagic fever - - - Preferential parent - - - - - - 319247 - Hantavirus pulmonary syndrome - - - Preferential parent - - - - - - 319251 - Rift valley fever - - - Preferential parent - - - - - - 319254 - Kyasanur forest disease - - - Preferential parent - - - - - - 319266 - Omsk hemorrhagic fever - - - Preferential parent - - - - - - 324625 - Chikungunya - - - Preferential parent - - - - - - 324632 - Hendra virus infection - - - Preferential parent - - - - - - 324648 - Invasive non-typhoidal salmonellosis - - - Preferential parent - - - - - - 397587 - Deep dermatophytosis - - - Preferential parent - - - - - - 402823 - Hepatitis delta - - - Preferential parent - - - - - - 411703 - Pulmonary non-tuberculous mycobacterial infection - - - Preferential parent - - - - - - 423717 - Cutaneous larva migrans - - - Preferential parent - - - - - - 438279 - Human infection by orthopoxvirus - - - Preferential parent - - - - - - 440368 - Necrotizing soft tissue infection - - - Preferential parent - - - - - - 443227 - Paratyphoid fever - - - Preferential parent - - - - - - 447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - - Preferential parent - - - - - - 448237 - Zika virus disease - - - Preferential parent - - - - - - 449280 - Scedosporiosis - - - Preferential parent - - - - - - 454836 - Avian influenza - - - Preferential parent - - - - - - 457095 - Actinomycosis - - - Preferential parent - - - - - - 563684 - Furuncular myiasis due to Dermatobia hominis - - - Preferential parent - - - - - - 563687 - Furuncular myiasis due to Cordylobia anthropophaga - - - Preferential parent - - - - - - 563690 - Furuncular myiasis due to Cordylobia rodhaini - - - Preferential parent - - - - - - 570762 - Infective endocarditis - - - Preferential parent - - - - - - 600832 - Legionella infection - - - Preferential parent - - - - - - 633124 - Invasive scopulariopsis infection - - - Preferential parent - - - - - - 636945 - Invasive candidiasis - - - Preferential parent - - - - - - 637051 - Borna virus encephalitis - - - Preferential parent - - - - - - 641396 - Central nervous system tuberculosis - - - Preferential parent - - - - - - 645807 - Primary tuberculous lymphadenitis - - - Preferential parent - - - - - - 645814 - Primary pulmonary tuberculosis - - - Preferential parent - - - - - - 645822 - Primary bone and joint tuberculosis - - - Preferential parent - - - - - - 645849 - Primary cutaneous tuberculosis - - - Preferential parent - - - - - - 645854 - Multifocal tuberculosis - - - Preferential parent - - - - - - 645859 - Primary tuberculosis of the digestive system - - - Preferential parent - - - - - - 645874 - Primary genito-urinary tuberculosis - - - Preferential parent - - - - - - 658909 - Fasciolopsiasis - - - Preferential parent - - - - - - 658913 - Paragonimiasis - - - Preferential parent - - - - - - 658917 - Clonorchiasis - - - Preferential parent - - - - - - 659707 - Yersinia pseudotuberculosis infection - - - Preferential parent - - - - - - 659712 - Rare yersiniosis - - - Preferential parent - - - - - - 659756 - Oroya fever - - - Preferential parent - - - - - - 659759 - Verruga peruana - - - Preferential parent - - - - - - 659908 - Glanders - - - Preferential parent - - - - - - 660053 - Psittacosis - - - Preferential parent - - - - - - 688995 - Scarlet fever - - - Preferential parent - - - - - - 697053 - Talaromycosis - - - Preferential parent - - - - - - 697091 - Emergomycosis - - - Preferential parent - - - - - - 697096 - Cryptosporidiosis - - - Preferential parent - - - - - - 699678 - Necrotizing cellulitis - - - Preferential parent - - - - - - 699697 - Necrotizing fasciitis - - - Preferential parent - - - - - - 699702 - Necrotizing myositis - - - Preferential parent - - - - - - 68415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68415 - Rare parathyroid disease and phosphocalcic metabolism anomaly - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 90065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90065 - Acquired aneurysmal subarachnoid hemorrhage - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 519392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392 - Isolated iridoschisis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90066 - Pneumonia caused by Pseudomonas aeruginosa infection - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 519390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390 - Isolated blepharochalasis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396 - Isolated microspherophakia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90068 - Cocaine intoxication - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 90061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90061 - Non-infectious posterior uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384 - Congenital cystic eye - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062 - Acute liver failure - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 519388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 - Autosomal recessive anterior segment dysgenesis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90064 - Acute peripheral arterial occlusion - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 519386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386 - Isolated congenital entropion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073 - Hepatitis B reinfection following liver transplantation - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 519408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519408 - Mooren ulcer - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519406 - Thygeson superficial punctate keratitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519410 - Terrien marginal degeneration - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076 - Partial deep dermal and full thickness burns - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 90069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90069 - Systemic monochloroacetate poisoning - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 519400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400 - Peripapillary staphyloma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519398 - Isolated foveal hypoplasia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404 - Optic disc pit - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402 - Isolated megalopapilla - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050 - Retinopathy of prematurity - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519333 - Congenital optic disc excavation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 90052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90052 - Recurrent hepatitis C virus induced liver disease in liver transplant recipients - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 519337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519337 - Disorder with optic nerve compression - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90051 - Sepsis in premature infants - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 519339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519339 - Pseudopapilledema - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519325 - Syndromic inherited retinal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041 - Gaisböck syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519327 - Syndromic vitreoretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 - Hemoglobin D disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519329 - Rare disorder involving multiple structures of the eye - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 - Familial pseudohyperkalemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519331 - Secondary early-onset glaucoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 - Primary familial polycythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 90058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90058 - Spinal cord injury - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 519349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519349 - Rare ophthalmic disorder with cranial nerve involvement - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519351 - Rare optic nerve disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519353 - Rare trochlear nerve disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90060 - Diffuse alveolar hemorrhage - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 519355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519355 - Rare ocular motility/alignment disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90059 - Sudden sensorineural hearing loss - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 519341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519341 - Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519343 - Rare ophthalmic disorder with cortical involvement - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90053 - Complications after hematopoietic stem cell transplantation - - - - 565779 - Rare disorder potentially indicated for transplant or complication after transplantation - - - - Preferential parent - - - - - - 519345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345 - Rare disorder with optic disc malformation - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90056 - Moderate and severe traumatic brain injury - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 519347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519347 - Rare neuromuscular disorder with ocular motility/alignment anomaly - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 - Deafness with labyrinthine aplasia, microtia, and microdontia - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 519306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519306 - Isolated progressive inherited retinal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025 - Non-syndromic syndactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 519304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519304 - Isolated vitreoretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519302 - Isolated macular dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 - Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 519300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519300 - Isolated chorioretinal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519298 - Rare scleral disorder - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 90020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90020 - Parkinson-dementia complex of Guam - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 519296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519296 - Rare disorder with pigmented sclera - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90021 - Radiation myelitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90002 - Undifferentiated connective tissue syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 519294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519294 - Syndromic microspherophakia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 519292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519292 - Syndromic ectopia lentis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90003 - Inflammatory pseudotumor of the liver - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 519323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519323 - Syndromic macular dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90037 - Drug-induced autoimmune hemolytic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519321 - Syndromic chorioretinal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038 - Shiga toxin-associated hemolytic uremic syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 90035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90035 - Paroxysmal cold hemoglobinuria - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519319 - Isolated stationary inherited retinal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519317 - Rare retinal vasculopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90036 - Mixed-type autoimmune hemolytic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519315 - Rare retinal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 - Non-spherocytic hemolytic anemia due to hexokinase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519313 - Rare macular disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90033 - Autoimmune hemolytic anemia, warm type - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 519311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519311 - Rare disorder of the posterior segment of the eye - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 - Primary erythromelalgia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 519309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519309 - Rare choroidal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 - Hemolytic anemia due to glutathione reductase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 519272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519272 - Structural developmental eye defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 519274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519274 - Syndromic lacrimal system disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 519268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519268 - Rare disorder with ectropion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 519270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519270 - Rare disorder with entropion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 89843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 - Dystrophic epidermolysis bullosa pruriginosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 89842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 519264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519264 - Inflammatory/autoimmune disorder involving the lacrimal system - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519266 - Rare disorder of the ocular adnexa - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 - X-linked cone dysfunction syndrome with myopia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519288 - Rare disorder with corneal involvement as a major feature - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519290 - Rare inflammatory/autoimmune corneal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000 - Erythema elevatum diutinum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 519284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519284 - Rare disorder of the anterior segment of the eye - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519286 - Rare disorder of the pupil - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519280 - Rare conjunctivitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519282 - Rare corneal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 519276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276 - Anterior segment developmental abnormality with extraocular manifestations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 89938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 - Bartter syndrome type 4 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 89937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 - Autosomal dominant hypophosphatemic rickets - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 519278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519278 - Infective keratitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 - Blau syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 - Autosomal dominant cutis laxa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 - Autosomal recessive cutis laxa type 1 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 - Brittle cornea syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 90362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362 - Primary intestinal lymphangiectasia - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 90363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363 - Secondary intestinal lymphangiectasia - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 90289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289 - Localized scleroderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301 - Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 90291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 - Systemic sclerosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156 - Centrifugal lipodystrophy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157 - Drug-induced localized lipodystrophy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 90160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160 - Pressure-induced localized lipoatrophy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158 - Idiopathic localized lipodystrophy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159 - Panniculitis-induced localized lipodystrophy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280 - Chilblain lupus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281 - Discoid lupus erythematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 - Meige disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285 - Lupus erythematosus panniculitis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90282 - Hypertrophic or verrucous lupus erythematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283 - Lupus erythematosus tumidus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90080 - Scarring in glaucoma filtration surgical procedures - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 90078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90078 - Invasive infections due to vancomycin-resistant enterococci - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 90077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90077 - Other acquired skin disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 - Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 514980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514980 - ATP13A2-related parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90081 - AIDS wasting syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 90118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 - Severe early-onset axonal neuropathy due to MFN2 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 - Hereditary motor and sensory neuropathy, Okinawa type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 - Hereditary motor and sensory neuropathy type 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119 - Hereditary motor and sensory neuropathy with acrodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 525677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525677 - Genetic congenital malformation of the eye with glaucoma as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 525731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525731 - Pediatric-onset Graves disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 525738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525738 - Prepubertal anorexia nervosa - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522584 - Rare genetic choroidal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 523000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523000 - Pediatric-onset glaucoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522574 - Rare genetic macular disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522576 - Rare genetic retinal vasculopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673 - Hepatocellular carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 522578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522578 - Rare genetic disorder involving multiple structures of the eye - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522580 - Secondary early-onset glaucoma of genetic origin - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522568 - Rare genetic disorder of the pupil - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 - Autosomal recessive ataxia, Beauce type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522566 - Rare genetic inflammatory/autoimmune corneal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659 - Autosomal dominant progressive nephropathy with hypertension - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 522572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522572 - Rare genetic retinal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660 - Hypertension due to gain-of-function mutations in the mineralocorticoid receptor - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 522570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522570 - Rare genetic disorder of the posterior segment of the eye - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661 - Amelogenesis imperfecta - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 88637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522560 - Genetic corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522558 - Rare genetic disorder with corneal involvement as a major feature - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522564 - Syndromic genetic keratoconus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 - Congenital insensitivity to pain-anosmia-neuropathic arthropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 88643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643 - Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 522562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522562 - Genetic superficial corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 - Anterior segment developmental anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 522552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522552 - Lens position anomaly of genetic origin - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88633 - Superior limbic keratoconjunctivitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522550 - Lens size anomaly of genetic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 88635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 - Vacuolar myopathy with sarcoplasmic reticulum protein aggregates - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522556 - Rare genetic corneal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522554 - Syndromic genetic ectopia lentis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 - Ichthyosis-prematurity syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 522542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522542 - Rare genetic disorder with conjunctival involvement as a major feature - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 88629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 - Tritanopia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522548 - Syndromic genetic cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 522546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522546 - Rare genetic disorder with lens opacification - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522538 - Rare genetic disorder of the anterior segment of the eye - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620 - Isolated congenital anosmia - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 522540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522540 - Anterior segment developmental anomaly of genetic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 88619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 - Familial acute necrotizing encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522534 - Lacrimal drainage system anomaly of genetic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 522536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522536 - Structural developmental eye defect of genetic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 88616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 - Autosomal recessive non-syndromic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522530 - Rare genetic disorder with entropion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522532 - Rare genetic disorder of the lacrimal apparatus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 87884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884 - Non-syndromic genetic deafness - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 522526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522526 - Rare genetic palpebral disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 522528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522528 - Rare genetic eyelid malposition disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 87503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503 - Mal de Meleda - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 522522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522522 - Rare genetic neuromuscular disorder with ocular motility/alignment anomaly - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 87277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87277 - Rare intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522524 - Rare genetic disorder of the ocular adnexa - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522518 - Rare genetic disorder with strabismus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522520 - Syndromic genetic disorder with strabismus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522514 - Congenital optic disc excavation of genetic origin - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522516 - Rare genetic ocular motility/alignment disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522510 - Rare genetic ophthalmic disorder with cranial nerve involvement - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 86920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 - Dermatopathia pigmentosa reticularis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 522512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522512 - Rare genetic optic nerve disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 86919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919 - Keratosis palmaris et plantaris-clinodactyly syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 522508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522508 - Rare genetic ophthalmic disorder with cortical involvement - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 522506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522506 - Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918 - Diffuse palmoplantar keratoderma-acrocyanosis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 522504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522504 - Rare genetic disorder of the visual organs - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 86915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 - Lymphedema-atrial septal defects-facial changes syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 522077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 - Syndromic autoimmune enteropathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 86913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913 - Myoclonic epilepsy in non-progressive encephalopathies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 522037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037 - Primary autoimmune enteropathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 86914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914 - Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909 - Myoclonic epilepsy of infancy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 - Epilepsy with myoclonic absences - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906 - Gelastic seizures with hypothalamic hamartoma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 - Hemiconvulsion-hemiplegia-epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903 - Dendritic cell sarcoma not otherwise specified - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 521450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450 - LAMA5-related multisystemic syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 86904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904 - Methotrexate-associated lymphoproliferative disorders - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 521445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900 - Interdigitating dendritic cell sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 521432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 86902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902 - Follicular dendritic cell sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 521426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 - PLAA-associated neurodevelopmental disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896 - Histiocytic sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 521414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414 - Autosomal dominant Charcot-Marie-Tooth disease type 2DD - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897 - Langerhans cell sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 521258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 - Xq25 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 89826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89826 - Rare skin disease - - - - - 535 - Rare cutaneous lupus erythematosus - - - Preferential parent - - - - - - 801 - Scleroderma - - - Preferential parent - - - - - - 461 - Recessive X-linked ichthyosis - - - Preferential parent - - - - - - 313 - Lamellar ichthyosis - - - Preferential parent - - - - - - 55 - Oculocutaneous albinism - - - Preferential parent - - - - - - 218 - Darier disease - - - Preferential parent - - - - - - 626 - Large/giant congenital melanocytic nevus - - - Preferential parent - - - - - - 1006 - Alopecia antibody deficiency - - - Preferential parent - - - - - - 816 - Sjögren-Larsson syndrome - - - Preferential parent - - - - - - 304 - Epidermolysis bullosa simplex - - - Preferential parent - - - - - - 704 - Pemphigus vulgaris - - - Preferential parent - - - - - - 2897 - Pityriasis rubra pilaris - - - Preferential parent - - - - - - 2398 - Multiple symmetric lipomatosis - - - Preferential parent - - - - - - 1656 - Dermatitis herpetiformis - - - Preferential parent - - - - - - 634 - Netherton syndrome - - - Preferential parent - - - - - - 113 - Bazex-Dupré-Christol syndrome - - - Preferential parent - - - - - - 381 - Griscelli syndrome - - - Preferential parent - - - - - - 624 - Familial multiple nevi flammei - - - Preferential parent - - - - - - 37 - Acrodermatitis enteropathica - - - Preferential parent - - - - - - 701 - Alopecia universalis - - - Preferential parent - - - - - - 1010 - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - - Preferential parent - - - - - - 1023 - Congenital generalized hypertrichosis, Ambras type - - - Preferential parent - - - - - - 1221 - Cheilitis glandularis - - - Preferential parent - - - - - - 1336 - Hyperkeratosis-hyperpigmentation syndrome - - - Preferential parent - - - - - - 1410 - Uncombable hair syndrome - - - Preferential parent - - - - - - 1658 - Absence of fingerprints-congenital milia syndrome - - - Preferential parent - - - - - - 1839 - Hereditary mucoepithelial dysplasia - - - Preferential parent - - - - - - 1807 - Focal facial dermal dysplasia type III - - - Preferential parent - - - - - - 1954 - Congenital lethal erythroderma - - - Preferential parent - - - - - - 1955 - Spinocerebellar ataxia type 34 - - - Preferential parent - - - - - - 2045 - FLOTCH syndrome - - - Preferential parent - - - - - - 2069 - Gastrocutaneous syndrome - - - Preferential parent - - - - - - 312 - Autosomal dominant epidermolytic ichthyosis - - - Preferential parent - - - - - - 2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - - Preferential parent - - - - - - 495 - Transgrediens et progrediens palmoplantar keratoderma - - - Preferential parent - - - - - - 2199 - Epidermolytic palmoplantar keratoderma - - - Preferential parent - - - - - - 2200 - Focal palmoplantar and gingival keratoderma - - - Preferential parent - - - - - - 2201 - Palmoplantar keratoderma-spastic paralysis syndrome - - - Preferential parent - - - - - - 2222 - Hypertrichosis lanuginosa congenita - - - Preferential parent - - - - - - 2271 - Congenital ichthyosis-microcephalus-tetraplegia syndrome - - - Preferential parent - - - - - - 457 - Harlequin ichthyosis - - - Preferential parent - - - - - - 455 - Superficial epidermolytic ichthyosis - - - Preferential parent - - - - - - 2273 - Ichthyosis follicularis-alopecia-photophobia syndrome - - - Preferential parent - - - - - - 2309 - Pachyonychia congenita - - - Preferential parent - - - - - - 2325 - Epidermolysis bullosa simplex with anodontia/hypodontia - - - Preferential parent - - - - - - 2337 - Diffuse palmoplantar keratoderma, Bothnian type - - - Preferential parent - - - - - - 2338 - Isolated punctate palmoplantar keratoderma - - - Preferential parent - - - - - - 494 - Keratoderma hereditarium mutilans - - - Preferential parent - - - - - - 2340 - Keratosis follicularis spinulosa decalvans - - - Preferential parent - - - - - - 2386 - Leukoencephalopathy-palmoplantar keratoderma syndrome - - - Preferential parent - - - - - - 2387 - Leukonychia totalis - - - Preferential parent - - - - - - 2396 - Encephalocraniocutaneous lipomatosis - - - Preferential parent - - - - - - 2407 - Laryngo-onycho-cutaneous syndrome - - - Preferential parent - - - - - - 2435 - Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome - - - Preferential parent - - - - - - 2481 - Neurocutaneous melanocytosis - - - Preferential parent - - - - - - 2483 - Melkersson-Rosenthal syndrome - - - Preferential parent - - - - - - 2500 - Acrogeria - - - Preferential parent - - - - - - 2505 - Multiple benign circumferential skin creases on limbs - - - Preferential parent - - - - - - 2678 - Familial isolated café-au-lait macules - - - Preferential parent - - - - - - 2698 - Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - - - Preferential parent - - - - - - 678 - Papillon-Lefèvre syndrome - - - Preferential parent - - - - - - 2812 - Parana hard skin syndrome - - - Preferential parent - - - - - - 2833 - Stiff skin syndrome - - - Preferential parent - - - - - - 2834 - Wrinkly skin syndrome - - - Preferential parent - - - - - - 2884 - Piebaldism - - - Preferential parent - - - - - - 2885 - Piebald trait-neurologic defects syndrome - - - Preferential parent - - - - - - 2889 - Pili torti - - - Preferential parent - - - - - - 2891 - Pili torti-developmental delay-neurological abnormalities syndrome - - - Preferential parent - - - - - - 2907 - Hereditary acrokeratotic poikiloderma - - - Preferential parent - - - - - - 2987 - Antecubital pterygium syndrome - - - Preferential parent - - - - - - 3110 - Rombo syndrome - - - Preferential parent - - - - - - 3361 - Trichodysplasia-xeroderma syndrome - - - Preferential parent - - - - - - 3387 - Isolated anterior cervical hypertrichosis - - - Preferential parent - - - - - - 3243 - Sweet syndrome - - - Preferential parent - - - - - - 1114 - Aplasia cutis congenita - - - Preferential parent - - - - - - 910 - Xeroderma pigmentosum - - - Preferential parent - - - - - - 2591 - Infantile myofibromatosis - - - Preferential parent - - - - - - 209 - Cutis laxa - - - Preferential parent - - - - - - 2841 - Hailey-Hailey disease - - - Preferential parent - - - - - - 2611 - Linear verrucous nevus syndrome - - - Preferential parent - - - - - - 758 - Pseudoxanthoma elasticum - - - Preferential parent - - - - - - 257 - Epidermolysis bullosa simplex with muscular dystrophy - - - Preferential parent - - - - - - 537 - Toxic epidermal necrolysis - - - Preferential parent - - - - - - 317 - Erythrokeratodermia variabilis - - - Preferential parent - - - - - - 302 - Inherited epidermodysplasia verruciformis - - - Preferential parent - - - - - - 529 - Roch-Leri mesosomatous lipomatosis - - - Preferential parent - - - - - - 129 - Pseudopelade of Brocq - - - Preferential parent - - - - - - 345 - Dissecting cellulitis of the scalp - - - Preferential parent - - - - - - 168 - Loose anagen syndrome - - - Preferential parent - - - - - - 169 - Ringed hair disease - - - Preferential parent - - - - - - 170 - Woolly hair - - - Preferential parent - - - - - - 222 - Erosive pustular dermatosis of the scalp - - - Preferential parent - - - - - - 346 - Quinquaud folliculitis decalvans - - - Preferential parent - - - - - - 505 - Graham Little-Piccardi-Lassueur syndrome - - - Preferential parent - - - - - - 2221 - Acquired hypertrichosis lanuginosa - - - Preferential parent - - - - - - 444 - Marie Unna hereditary hypotrichosis - - - Preferential parent - - - - - - 499 - Kerion celsi - - - Preferential parent - - - - - - 492 - Proliferating trichilemmal cyst - - - Preferential parent - - - - - - 525 - Lichen planopilaris - - - Preferential parent - - - - - - 573 - Monilethrix - - - Preferential parent - - - - - - 840 - Syringocystadenoma papilliferum - - - Preferential parent - - - - - - 700 - Alopecia totalis - - - Preferential parent - - - - - - 671 - Primary cutis verticis gyrata - - - Preferential parent - - - - - - 720 - Pili bifurcati - - - Preferential parent - - - - - - 864 - Trichofolliculoma - - - Preferential parent - - - - - - 2908 - Kindler epidermolysis bullosa - - - Preferential parent - - - - - - 3406 - Ulerythema ophryogenesis - - - Preferential parent - - - - - - 305 - Junctional epidermolysis bullosa - - - Preferential parent - - - - - - 303 - Dystrophic epidermolysis bullosa - - - Preferential parent - - - - - - 38 - Acrokeratoelastoidosis of Costa - - - Preferential parent - - - - - - 39 - Acromelanosis - - - Preferential parent - - - - - - 41 - Dyschromatosis symmetrica hereditaria - - - Preferential parent - - - - - - 211 - Familial cylindromatosis - - - Preferential parent - - - - - - 241 - Dyschromatosis universalis hereditaria - - - Preferential parent - - - - - - 316 - Progressive symmetric erythrokeratodermia - - - Preferential parent - - - - - - 315 - Erythrokeratoderma ''en cocardes'' - - - Preferential parent - - - - - - 384 - Huriez syndrome - - - Preferential parent - - - - - - 409 - Hyperkeratosis lenticularis perstans - - - Preferential parent - - - - - - 454 - Acquired ichthyosis - - - Preferential parent - - - - - - 493 - Familial keratoacanthoma - - - Preferential parent - - - - - - 498 - Keratosis pilaris atrophicans - - - Preferential parent - - - - - - 314 - Erythroderma desquamativum - - - Preferential parent - - - - - - 530 - Lipoid proteinosis - - - Preferential parent - - - - - - 659 - Mutilating palmoplantar keratoderma with periorificial keratotic plaques - - - Preferential parent - - - - - - 735 - Porokeratosis of Mibelli - - - Preferential parent - - - - - - 737 - Porokeratosis plantaris palmaris et disseminata - - - Preferential parent - - - - - - 841 - Sebocystomatosis - - - Preferential parent - - - - - - 817 - Peeling skin syndrome - - - Preferential parent - - - - - - 867 - Familial multiple trichoepithelioma - - - Preferential parent - - - - - - 679 - Malignant atrophic papulosis - - - Preferential parent - - - - - - 901 - Wells syndrome - - - Preferential parent - - - - - - 703 - Bullous pemphigoid - - - Preferential parent - - - - - - 33314 - Jessner lymphocytic infiltration of the skin - - - Preferential parent - - - - - - 33408 - Bullous lichen planus - - - Preferential parent - - - - - - 33577 - Nodular non-suppurative panniculitis - - - Preferential parent - - - - - - 36397 - Adiposis dolorosa - - - Preferential parent - - - - - - 36426 - Stevens-Johnson syndrome - - - Preferential parent - - - - - - 37559 - Acquired kinky hair syndrome - - - Preferential parent - - - - - - 68346 - Rare genetic skin disease - - - Preferential parent - - - - - - 46485 - Superficial pemphigus - - - Preferential parent - - - - - - 46486 - Mucous membrane pemphigoid - - - Preferential parent - - - - - - 46487 - Epidermolysis bullosa acquisita - - - Preferential parent - - - - - - 46488 - Linear IgA dermatosis - - - Preferential parent - - - - - - 48377 - Subcorneal pustular dermatosis - - - Preferential parent - - - - - - 49804 - Lichen amyloidosis - - - Preferential parent - - - - - - 50942 - Striate palmoplantar keratoderma - - - Preferential parent - - - - - - 50943 - Keratolytic winter erythema - - - Preferential parent - - - - - - 53296 - Familial cutaneous collagenoma - - - Preferential parent - - - - - - 53715 - Familial tumoral calcinosis - - - Preferential parent - - - - - - 55654 - Hypotrichosis simplex - - - Preferential parent - - - - - - 63275 - Pemphigoid gestationis - - - Preferential parent - - - - - - 63455 - Paraneoplastic pemphigus - - - Preferential parent - - - - - - 64745 - Pruritic urticarial papules and plaques of pregnancy - - - Preferential parent - - - - - - 64754 - Nevus comedonicus syndrome - - - Preferential parent - - - - - - 64755 - Becker nevus syndrome - - - Preferential parent - - - - - - 65748 - Multiple self-healing squamous epithelioma - - - Preferential parent - - - - - - 66646 - Cutaneous mastocytosis - - - Preferential parent - - - - - - 69125 - Anonychia with flexural pigmentation - - - Preferential parent - - - - - - 69735 - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - - Preferential parent - - - - - - 69744 - Circumscribed palmoplantar hypokeratosis - - - Preferential parent - - - - - - 69745 - Warty dyskeratoma - - - Preferential parent - - - - - - 79100 - Atrophoderma vermiculata - - - Preferential parent - - - - - - 79141 - Hereditary painful callosities - - - Preferential parent - - - - - - 79143 - Isolated congenital anonychia - - - Preferential parent - - - - - - 79144 - Isolated congenital onychodysplasia - - - Preferential parent - - - - - - 79145 - Dowling-Degos disease - - - Preferential parent - - - - - - 79146 - Familial progressive hyperpigmentation - - - Preferential parent - - - - - - 79147 - Familial reactive perforating collagenosis - - - Preferential parent - - - - - - 79148 - Elastosis perforans serpiginosa - - - Preferential parent - - - - - - 79150 - Linear and whorled nevoid hypermelanosis - - - Preferential parent - - - - - - 79151 - Acrokeratosis verruciformis of Hopf - - - Preferential parent - - - - - - 79152 - Disseminated superficial actinic porokeratosis - - - Preferential parent - - - - - - 79153 - Idiopathic trachyonychia - - - Preferential parent - - - - - - 79353 - Epidermal disease - - - Preferential parent - - - - - - 79354 - Ichthyosis - - - Preferential parent - - - - - - 79355 - Erythrokeratoderma - - - Preferential parent - - - - - - 79356 - Acrokeratoderma - - - Preferential parent - - - - - - 79357 - Hereditary palmoplantar keratoderma - - - Preferential parent - - - - - - 79358 - Porokeratosis - - - Preferential parent - - - - - - 79359 - Other epidermal disorder - - - Preferential parent - - - - - - 79360 - Other genetic epidermal disease - - - Preferential parent - - - - - - 79361 - Inherited epidermolysis bullosa - - - Preferential parent - - - - - - 79362 - Epidermal appendage anomaly - - - Preferential parent - - - - - - 79363 - Hair anomaly - - - Preferential parent - - - - - - 79364 - Alopecia - - - Preferential parent - - - - - - 79365 - Rare disorder with hypertrichosis - - - Preferential parent - - - - - - 79366 - Isolated hair shaft abnormality - - - Preferential parent - - - - - - 79367 - Syndromic hair shaft abnormality - - - Preferential parent - - - - - - 79368 - Nail anomaly - - - Preferential parent - - - - - - 79369 - Isolated nail anomaly - - - Preferential parent - - - - - - 79370 - Syndromic nail anomaly - - - Preferential parent - - - - - - 79372 - Sebaceous gland anomaly - - - Preferential parent - - - - - - 79373 - Ectodermal dysplasia syndrome - - - Preferential parent - - - - - - 79374 - Pigmentation anomaly of the skin - - - Preferential parent - - - - - - 79375 - Hyperpigmentation of the skin - - - Preferential parent - - - - - - 79376 - Hypopigmentation of the skin - - - Preferential parent - - - - - - 79377 - Dermis disorder - - - Preferential parent - - - - - - 79378 - Dermis elastic tissue disorder - - - Preferential parent - - - - - - 79379 - Skin vascular disease - - - Preferential parent - - - - - - 79380 - Mixed dermis disorder - - - Preferential parent - - - - - - 79381 - Other dermis disorder - - - Preferential parent - - - - - - 79382 - Subcutaneous tissue disease - - - Preferential parent - - - - - - 79384 - Rare urticaria - - - Preferential parent - - - - - - 79385 - Unclassified genetic skin disorder - - - Preferential parent - - - - - - 79386 - Rare skin tumor or hamartoma - - - Preferential parent - - - - - - 79387 - Metabolic disease with skin involvement - - - Preferential parent - - - - - - 79388 - Mucopolysaccharidosis with skin involvement - - - Preferential parent - - - - - - 79389 - Premature aging - - - Preferential parent - - - - - - 79390 - Rare photodermatosis - - - Preferential parent - - - - - - 79391 - Immune deficiency with skin involvement - - - Preferential parent - - - - - - 79394 - Congenital ichthyosiform erythroderma - - - Preferential parent - - - - - - 79395 - Keratoderma hereditarium mutilans with ichthyosis - - - Preferential parent - - - - - - 79396 - Autosomal dominant generalized epidermolysis bullosa simplex, severe form - - - Preferential parent - - - - - - 79397 - Epidermolysis bullosa simplex with mottled pigmentation - - - Preferential parent - - - - - - 79399 - Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form - - - Preferential parent - - - - - - 79400 - Localized epidermolysis bullosa simplex - - - Preferential parent - - - - - - 79401 - PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement - - - Preferential parent - - - - - - 79402 - Intermediate generalized junctional epidermolysis bullosa - - - Preferential parent - - - - - - 79403 - Junctional epidermolysis bullosa with pyloric atresia - - - Preferential parent - - - - - - 79404 - Severe generalized junctional epidermolysis bullosa - - - Preferential parent - - - - - - 79405 - Junctional epidermolysis bullosa inversa - - - Preferential parent - - - - - - 79406 - Late-onset junctional epidermolysis bullosa - - - Preferential parent - - - - - - 79408 - Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form - - - Preferential parent - - - - - - 79409 - Recessive dystrophic epidermolysis bullosa inversa - - - Preferential parent - - - - - - 79410 - Localized dystrophic epidermolysis bullosa, pretibial form - - - Preferential parent - - - - - - 79411 - Self-improving dystrophic epidermolysis bullosa - - - Preferential parent - - - - - - 79414 - Woolly hair nevus - - - Preferential parent - - - - - - 79431 - Oculocutaneous albinism type 1A - - - Preferential parent - - - - - - 79432 - Oculocutaneous albinism type 2 - - - Preferential parent - - - - - - 79433 - Oculocutaneous albinism type 3 - - - Preferential parent - - - - - - 79434 - Oculocutaneous albinism type 1B - - - Preferential parent - - - - - - 79435 - Oculocutaneous albinism type 4 - - - Preferential parent - - - - - - 79455 - Cutaneous mastocytoma - - - Preferential parent - - - - - - 79456 - Diffuse cutaneous mastocytosis - - - Preferential parent - - - - - - 79457 - Maculopapular cutaneous mastocytosis - - - Preferential parent - - - - - - 79466 - Inflammatory linear verrucous epidermal nevus - - - Preferential parent - - - - - - 79467 - Verrucous nevus - - - Preferential parent - - - - - - 79468 - Acanthokeratolytic verrucous nevus - - - Preferential parent - - - - - - 79476 - Griscelli syndrome type 1 - - - Preferential parent - - - - - - 79477 - Griscelli syndrome type 2 - - - Preferential parent - - - - - - 79478 - Griscelli syndrome type 3 - - - Preferential parent - - - - - - 79479 - Pemphigus vegetans - - - Preferential parent - - - - - - 79480 - Pemphigus erythematosus - - - Preferential parent - - - - - - 79481 - Pemphigus foliaceus - - - Preferential parent - - - - - - 79492 - Pili gemini - - - Preferential parent - - - - - - 79493 - Brooke-Spiegler syndrome - - - Preferential parent - - - - - - 79495 - X-linked congenital generalized hypertrichosis - - - Preferential parent - - - - - - 79501 - Punctate palmoplantar keratoderma type 1 - - - Preferential parent - - - - - - 79502 - Punctate palmoplantar keratoderma type 2 - - - Preferential parent - - - - - - 79503 - Ichthyosis hystrix of Curth-Macklin - - - Preferential parent - - - - - - 79669 - Autoimmune bullous skin disease - - - Preferential parent - - - - - - 85453 - X-linked reticulate pigmentary disorder - - - Preferential parent - - - - - - 86795 - Localized lichen myxedematosus - - - Preferential parent - - - - - - 86797 - Atypical lichen myxedematosus - - - Preferential parent - - - - - - 86819 - Atrichia with papular lesions - - - Preferential parent - - - - - - 86918 - Diffuse palmoplantar keratoderma-acrocyanosis syndrome - - - Preferential parent - - - - - - 86919 - Keratosis palmaris et plantaris-clinodactyly syndrome - - - Preferential parent - - - - - - 86920 - Dermatopathia pigmentosa reticularis - - - Preferential parent - - - - - - 87503 - Mal de Meleda - - - Preferential parent - - - - - - 88621 - Ichthyosis-prematurity syndrome - - - Preferential parent - - - - - - 89838 - Autosomal recessive generalized epidermolysis bullosa simplex - - - Preferential parent - - - - - - 89842 - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - - Preferential parent - - - - - - 89843 - Dystrophic epidermolysis bullosa pruriginosa - - - Preferential parent - - - - - - 90000 - Erythema elevatum diutinum - - - Preferential parent - - - - - - 90077 - Other acquired skin disease - - - Preferential parent - - - - - - 90156 - Centrifugal lipodystrophy - - - Preferential parent - - - - - - 90157 - Drug-induced localized lipodystrophy - - - Preferential parent - - - - - - 90158 - Idiopathic localized lipodystrophy - - - Preferential parent - - - - - - 90159 - Panniculitis-induced localized lipodystrophy - - - Preferential parent - - - - - - 90160 - Pressure-induced localized lipoatrophy - - - Preferential parent - - - - - - 90280 - Chilblain lupus - - - Preferential parent - - - - - - 90281 - Discoid lupus erythematosus - - - Preferential parent - - - - - - 90282 - Hypertrophic or verrucous lupus erythematosus - - - Preferential parent - - - - - - 90283 - Lupus erythematosus tumidus - - - Preferential parent - - - - - - 90285 - Lupus erythematosus panniculitis - - - Preferential parent - - - - - - 90289 - Localized scleroderma - - - Preferential parent - - - - - - 90342 - Xeroderma pigmentosum variant - - - Preferential parent - - - - - - 90348 - Autosomal dominant cutis laxa - - - Preferential parent - - - - - - 90349 - Autosomal recessive cutis laxa type 1 - - - Preferential parent - - - - - - 90350 - Autosomal recessive cutis laxa type 2 - - - Preferential parent - - - - - - 90368 - Hypotrichosis simplex of the scalp - - - Preferential parent - - - - - - 90389 - Telangiectasia macularis eruptiva perstans - - - Preferential parent - - - - - - 90390 - Anonychia-onychodystrophy syndrome - - - Preferential parent - - - - - - 90393 - Nodular lichen myxedematosus - - - Preferential parent - - - - - - 90394 - Discrete papular lichen myxedematosus - - - Preferential parent - - - - - - 90395 - Papular mucinosis of infancy - - - Preferential parent - - - - - - 90396 - Acral persistent papular mucinosis - - - Preferential parent - - - - - - 90397 - Self-healing papular mucinosis - - - Preferential parent - - - - - - 90398 - Localized lichen myxedematosus with mixed features of different subtypes - - - Preferential parent - - - - - - 90399 - Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms - - - Preferential parent - - - - - - 90400 - Scleromyxedema without monoclonal gammopathy - - - Preferential parent - - - - - - 91132 - Ichthyosis-hypotrichosis syndrome - - - Preferential parent - - - - - - 91135 - Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - - - Preferential parent - - - - - - 91414 - Pilomatrixoma - - - Preferential parent - - - - - - 94087 - Cytophagic histiocytic panniculitis - - - Preferential parent - - - - - - 94150 - Anonychia congenita totalis - - - Preferential parent - - - - - - 95429 - Angioma serpiginosum - - - Preferential parent - - - - - - 95455 - Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum - - - Preferential parent - - - - - - 97230 - Solar urticaria - - - Preferential parent - - - - - - 97352 - Pellagra - - - Preferential parent - - - - - - 98349 - Autosomal dominant isolated diffuse palmoplantar keratoderma - - - Preferential parent - - - - - - 98352 - Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 98353 - Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 98356 - Autosomal recessive isolated diffuse palmoplantar keratoderma - - - Preferential parent - - - - - - 98357 - Autosomal recessive disease with focal palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 98907 - Neutral lipid storage disease with ichthyosis - - - Preferential parent - - - - - - 99710 - Punctate acrokeratoderma freckle-like pigmentation - - - Preferential parent - - - - - - 100976 - Bathing suit ichthyosis - - - Preferential parent - - - - - - 137605 - Legius syndrome - - - Preferential parent - - - - - - 137617 - Nephrogenic systemic fibrosis - - - Preferential parent - - - - - - 137810 - Nodular cutaneous amyloidosis - - - Preferential parent - - - - - - 137814 - Macular amyloidosis - - - Preferential parent - - - - - - 139402 - Drug reaction with eosinophilia and systemic symptoms - - - Preferential parent - - - - - - 139414 - Congenital panfollicular nevus - - - Preferential parent - - - - - - 140933 - Linear atrophoderma of Moulin - - - Preferential parent - - - - - - 140966 - Palmoplantar keratoderma, Nagashima type - - - Preferential parent - - - - - - 157991 - Generalized eruptive histiocytosis - - - Preferential parent - - - - - - 157997 - Benign cephalic histiocytosis - - - Preferential parent - - - - - - 158000 - Juvenile xanthogranuloma - - - Preferential parent - - - - - - 158003 - Xanthoma disseminatum - - - Preferential parent - - - - - - 158008 - Papular xanthoma - - - Preferential parent - - - - - - 158011 - Necrobiotic xanthogranuloma - - - Preferential parent - - - - - - 158019 - Indeterminate cell histiocytosis - - - Preferential parent - - - - - - 158022 - Progressive nodular histiocytosis - - - Preferential parent - - - - - - 158025 - Hereditary progressive mucinous histiocytosis - - - Preferential parent - - - - - - 158668 - Ectodermal dysplasia-skin fragility syndrome - - - Preferential parent - - - - - - 158673 - Localized dystrophic epidermolysis bullosa, acral form - - - Preferential parent - - - - - - 158676 - Localized dystrophic epidermolysis bullosa, nails only - - - Preferential parent - - - - - - 158681 - Epidermolysis bullosa simplex with circinate migratory erythema - - - Preferential parent - - - - - - 158684 - Epidermolysis bullosa simplex with pyloric atresia - - - Preferential parent - - - - - - 158687 - Lethal acantholytic erosive disorder - - - Preferential parent - - - - - - 158766 - Typical urticaria pigmentosa - - - Preferential parent - - - - - - 158769 - Plaque-form urticaria pigmentosa - - - Preferential parent - - - - - - 158772 - Nodular urticaria pigmentosa - - - Preferential parent - - - - - - 163525 - Subacute cutaneous lupus erythematosus - - - Preferential parent - - - - - - 163531 - Chronic cutaneous lupus erythematosus - - - Preferential parent - - - - - - 163927 - Pustulosis palmaris et plantaris - - - Preferential parent - - - - - - 163931 - Acrodermatitis continua of Hallopeau - - - Preferential parent - - - - - - 166113 - Bazex syndrome - - - Preferential parent - - - - - - 166286 - Porokeratotic eccrine ostial and dermal duct nevus - - - Preferential parent - - - - - - 167635 - Scleromyxedema - - - Preferential parent - - - - - - 168569 - H syndrome - - - Preferential parent - - - - - - 168606 - Seborrhea-like dermatitis with psoriasiform elements - - - Preferential parent - - - - - - 168632 - Generalized basaloid follicular hamartoma syndrome - - - Preferential parent - - - - - - 171723 - White sponge nevus - - - Preferential parent - - - - - - 178307 - Reticulate acropigmentation of Kitamura - - - Preferential parent - - - - - - 178338 - UV-sensitive syndrome - - - Preferential parent - - - - - - 182734 - Genetic urticaria - - - Preferential parent - - - - - - 183426 - Genetic epidermal disorder - - - Preferential parent - - - - - - 183435 - Inherited ichthyosis - - - Preferential parent - - - - - - 183438 - Genetic erythrokeratoderma - - - Preferential parent - - - - - - 183441 - Genetic acrokeratoderma - - - Preferential parent - - - - - - 183444 - Genetic porokeratosis - - - Preferential parent - - - - - - 183447 - Genetic epidermal appendage anomaly - - - Preferential parent - - - - - - 183450 - Genetic hair anomaly - - - Preferential parent - - - - - - 183454 - Genetic nail anomaly - - - Preferential parent - - - - - - 183460 - Genetic sebaceous gland anomaly - - - Preferential parent - - - - - - 183463 - Genetic pigmentation anomaly of the skin - - - Preferential parent - - - - - - 183466 - Genetic hyperpigmentation of the skin - - - Preferential parent - - - - - - 183469 - Genetic hypopigmentation of the skin - - - Preferential parent - - - - - - 183472 - Genetic dermis disorder - - - Preferential parent - - - - - - 183478 - Genetic skin vascular disorder - - - Preferential parent - - - - - - 183481 - Genetic mixed dermis disorder - - - Preferential parent - - - - - - 183484 - Genetic subcutaneous tissue disorder - - - Preferential parent - - - - - - 183490 - Genetic photodermatosis - - - Preferential parent - - - - - - 199251 - Ledderhose disease - - - Preferential parent - - - - - - 199257 - Superficial fibromatosis - - - Preferential parent - - - - - - 199276 - Familial multiple lipomatosis - - - Preferential parent - - - - - - 199279 - Familial angiolipomatosis - - - Preferential parent - - - - - - 208524 - Herpetiform pemphigus - - - Preferential parent - - - - - - 210133 - Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome - - - Preferential parent - - - - - - 217407 - Hereditary hypotrichosis with recurrent skin vesicles - - - Preferential parent - - - - - - 220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - - Preferential parent - - - - - - 221039 - Hereditary sclerosing poikiloderma, Weary type - - - Preferential parent - - - - - - 221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - - Preferential parent - - - - - - 221046 - Poikiloderma with neutropenia - - - Preferential parent - - - - - - 221142 - Confetti-like macular atrophy - - - Preferential parent - - - - - - 222628 - Hereditary poikiloderma - - - Preferential parent - - - - - - 228215 - Genetic dermis elastic tissue disorder - - - Preferential parent - - - - - - 228218 - Acquired dermis elastic tissue disorder - - - Preferential parent - - - - - - 228221 - Acquired dermis elastic tissue disorder with decreased elastic tissue - - - Preferential parent - - - - - - 228224 - Acquired dermis elastic tissue disorder with increased elastic tissue - - - Preferential parent - - - - - - 228227 - Late-onset focal dermal elastosis - - - Preferential parent - - - - - - 228236 - Linear focal elastosis - - - Preferential parent - - - - - - 228240 - Elastoderma - - - Preferential parent - - - - - - 228243 - Elastofibroma dorsi - - - Preferential parent - - - - - - 228247 - Acquired pseudoxanthoma elasticum - - - Preferential parent - - - - - - 228254 - Elastoma - - - Preferential parent - - - - - - 228264 - Papular elastorrhexis - - - Preferential parent - - - - - - 228272 - Primary anetoderma - - - Preferential parent - - - - - - 228277 - Familial anetoderma - - - Preferential parent - - - - - - 228285 - Acquired cutis laxa - - - Preferential parent - - - - - - 228290 - White fibrous papulosis of the neck - - - Preferential parent - - - - - - 228293 - Pseudoxanthoma elasticum-like papillary dermal elastolysis - - - Preferential parent - - - - - - 228299 - Mid-dermal elastolysis - - - Preferential parent - - - - - - 228379 - Virus-associated trichodysplasia spinulosa - - - Preferential parent - - - - - - 231031 - Erythema palmare hereditarium - - - Preferential parent - - - - - - 231040 - Familial generalized lentiginosis - - - Preferential parent - - - - - - 231556 - Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome - - - Preferential parent - - - - - - 231568 - Autosomal dominant generalized dystrophic epidermolysis bullosa - - - Preferential parent - - - - - - 231573 - Congenital erosive and vesicular dermatosis - - - Preferential parent - - - - - - 247353 - Generalized pustular psoriasis - - - Preferential parent - - - - - - 251393 - Localized junctional epidermolysis bullosa - - - Preferential parent - - - - - - 254367 - Rare lichen planus - - - Preferential parent - - - - - - 254370 - Rare cutaneous lichen planus - - - Preferential parent - - - - - - 254373 - Rare mucosal lichen planus - - - Preferential parent - - - - - - 254379 - Linear lichen planus - - - Preferential parent - - - - - - 254395 - Actinic lichen planus - - - Preferential parent - - - - - - 254411 - Annular atrophic lichen planus - - - Preferential parent - - - - - - 254424 - Annular lichen planus - - - Preferential parent - - - - - - 254449 - Atrophic lichen planus - - - Preferential parent - - - - - - 254463 - Lichen planus pigmentosus - - - Preferential parent - - - - - - 254478 - Lichen planus pemphigoides - - - Preferential parent - - - - - - 254492 - Frontal fibrosing alopecia - - - Preferential parent - - - - - - 263425 - Nevus of Ota - - - Preferential parent - - - - - - 263432 - Nevus of Ito - - - Preferential parent - - - - - - 263435 - Congenital smooth muscle hamartoma - - - Preferential parent - - - - - - 263534 - Acral peeling skin syndrome - - - Preferential parent - - - - - - 263543 - Generalized peeling skin syndrome - - - Preferential parent - - - - - - 263548 - Peeling skin syndrome type A - - - Preferential parent - - - - - - 263553 - Peeling skin syndrome type B - - - Preferential parent - - - - - - 271832 - Genetic soft tissue tumor - - - Preferential parent - - - - - - 280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - - Preferential parent - - - - - - 280628 - Familial progressive hyper- and hypopigmentation - - - Preferential parent - - - - - - 280654 - Autosomal recessive nail dysplasia - - - Preferential parent - - - - - - 280774 - Generalized essential telangiectasia - - - Preferential parent - - - - - - 280779 - Cutaneous collagenous vasculopathy - - - Preferential parent - - - - - - 280785 - Bullous diffuse cutaneous mastocytosis - - - Preferential parent - - - - - - 280794 - Pseudoxanthomatous diffuse cutaneous mastocytosis - - - Preferential parent - - - - - - 281082 - Inherited non-syndromic ichthyosis - - - Preferential parent - - - - - - 281085 - Inherited ichthyosis syndromic form - - - Preferential parent - - - - - - 281090 - Syndromic recessive X-linked ichthyosis - - - Preferential parent - - - - - - 281097 - Autosomal recessive congenital ichthyosis - - - Preferential parent - - - - - - 281103 - Keratinopathic ichthyosis - - - Preferential parent - - - - - - 281122 - Self-improving collodion baby - - - Preferential parent - - - - - - 281127 - Acral self-healing collodion baby - - - Preferential parent - - - - - - 281139 - Annular epidermolytic ichthyosis - - - Preferential parent - - - - - - 281190 - Congenital reticular ichthyosiform erythroderma - - - Preferential parent - - - - - - 281201 - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - - - Preferential parent - - - - - - 281210 - X-linked ichthyosis syndrome - - - Preferential parent - - - - - - 281217 - Autosomal ichthyosis syndrome - - - Preferential parent - - - - - - 281222 - Autosomal ichthyosis syndrome with prominent hair abnormalities - - - Preferential parent - - - - - - 281238 - Autosomal ichthyosis syndrome with prominent neurologic signs - - - Preferential parent - - - - - - 281241 - Autosomal ichthyosis syndrome with fatal disease course - - - Preferential parent - - - - - - 281244 - Autosomal ichthyosis syndrome with other associated signs - - - Preferential parent - - - - - - 289478 - PASH syndrome - - - Preferential parent - - - - - - 289586 - Exfoliative ichthyosis - - - Preferential parent - - - - - - 290836 - Systemic disease with skin involvement - - - Preferential parent - - - - - - 290842 - Autoinflammatory syndrome with skin involvement - - - Preferential parent - - - - - - 293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - - Preferential parent - - - - - - 293173 - Acute generalized exanthematous pustulosis - - - Preferential parent - - - - - - 293812 - Fixed drug eruption - - - Preferential parent - - - - - - 293815 - Toxic dermatosis - - - Preferential parent - - - - - - 294057 - Rare nevus - - - Preferential parent - - - - - - 306658 - Familial normophosphatemic tumoral calcinosis - - - Preferential parent - - - - - - 306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - - Preferential parent - - - - - - 307141 - Diffuse palmoplantar keratoderma - - - Preferential parent - - - - - - 307148 - Isolated diffuse palmoplantar keratoderma - - - Preferential parent - - - - - - 307711 - Disease with diffuse palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 307773 - Autosomal dominant diffuse mutilating palmoplantar keratoderma - - - Preferential parent - - - - - - 307804 - Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 307837 - Focal palmoplantar keratoderma - - - Preferential parent - - - - - - 307846 - Isolated focal palmoplantar keratoderma - - - Preferential parent - - - - - - 307871 - Disease with focal palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 307967 - Punctate palmoplantar keratoderma - - - Preferential parent - - - - - - 307995 - Marginal papular palmoplantar keratoderma - - - Preferential parent - - - - - - 308013 - Focal acral hyperkeratosis - - - Preferential parent - - - - - - 308023 - Disease with punctate palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 308031 - Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 308041 - Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature - - - Preferential parent - - - - - - 308166 - Erythrokeratoderma variabilis progressiva - - - Preferential parent - - - - - - 313846 - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome - - - Preferential parent - - - - - - 313936 - PENS syndrome - - - Preferential parent - - - - - - 315350 - Autoimmune disease with skin involvement - - - Preferential parent - - - - - - 319635 - Amyloidosis cutis dyschromia - - - Preferential parent - - - - - - 324561 - Hypopigmentation-punctate palmoplantar keratoderma syndrome - - - Preferential parent - - - - - - 330029 - Hypotrichosis-deafness syndrome - - - Preferential parent - - - - - - 330058 - Hydroa vacciniforme - - - Preferential parent - - - - - - 330061 - Actinic prurigo - - - Preferential parent - - - - - - 330064 - Chronic actinic dermatitis - - - Preferential parent - - - - - - 352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - - Preferential parent - - - - - - 352731 - Oculocutaneous albinism type 1 - - - Preferential parent - - - - - - 352734 - Minimal pigment oculocutaneous albinism type 1 - - - Preferential parent - - - - - - 352737 - Temperature-sensitive oculocutaneous albinism type 1 - - - Preferential parent - - - - - - 352745 - Oculocutaneous albinism type 7 - - - Preferential parent - - - - - - 352763 - Scleredema - - - Preferential parent - - - - - - 353220 - Familial primary localized cutaneous amyloidosis - - - Preferential parent - - - - - - 357058 - Autosomal recessive cutis laxa type 2A - - - Preferential parent - - - - - - 357064 - Autosomal recessive cutis laxa type 2B - - - Preferential parent - - - - - - 357074 - Autosomal recessive cutis laxa type 2, classic type - - - Preferential parent - - - - - - 357220 - Primary essential cutis verticis gyrata - - - Preferential parent - - - - - - 357225 - Primary non-essential cutis verticis gyrata - - - Preferential parent - - - - - - 363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - - Preferential parent - - - - - - 363665 - Acroosteolysis-keloid-like lesions-premature aging syndrome - - - Preferential parent - - - - - - 369992 - Severe dermatitis-multiple allergies-metabolic wasting syndrome - - - Preferential parent - - - - - - 369999 - Diffuse palmoplantar keratoderma with painful fissures - - - Preferential parent - - - - - - 370002 - Focal palmoplantar keratoderma with joint keratoses - - - Preferential parent - - - - - - 370039 - Angora hair nevus - - - Preferential parent - - - - - - 370046 - Didymosis aplasticosebacea - - - Preferential parent - - - - - - 370052 - SCALP syndrome - - - Preferential parent - - - - - - 370059 - NEVADA syndrome - - - Preferential parent - - - - - - 370091 - Oculocutaneous albinism type 5 - - - Preferential parent - - - - - - 370097 - Oculocutaneous albinism type 6 - - - Preferential parent - - - - - - 398166 - Focal facial dermal dysplasia - - - Preferential parent - - - - - - 398173 - Focal facial dermal dysplasia type II - - - Preferential parent - - - - - - 398189 - Focal facial dermal dysplasia type IV - - - Preferential parent - - - - - - 402003 - Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering - - - Preferential parent - - - - - - 402007 - Lichen myxedematosus - - - Preferential parent - - - - - - 411777 - Generalized eruptive keratoacanthoma - - - Preferential parent - - - - - - 411788 - Familial isolated trichomegaly - - - Preferential parent - - - - - - 412181 - Epidermolysis bullosa simplex due to BP230 deficiency - - - Preferential parent - - - - - - 412189 - Epidermolysis bullosa simplex due to exophilin 5 deficiency - - - Preferential parent - - - - - - 420686 - Woolly hair-palmoplantar keratoderma syndrome - - - Preferential parent - - - - - - 434809 - Syndrome with woolly hair - - - Preferential parent - - - - - - 439196 - Zinc-responsive necrolytic acral erythema - - - Preferential parent - - - - - - 444138 - Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome - - - Preferential parent - - - - - - 448264 - Isolated focal non-epidermolytic palmoplantar keratoderma - - - Preferential parent - - - - - - 451602 - Primary cutaneous plasmacytosis - - - Preferential parent - - - - - - 451607 - Cutaneous pseudolymphoma - - - Preferential parent - - - - - - 454710 - Anti-p200 pemphigoid - - - Preferential parent - - - - - - 468666 - Isolated generalized anhidrosis with normal sweat glands - - - Preferential parent - - - - - - 476096 - Erythrokeratodermia-cardiomyopathy syndrome - - - Preferential parent - - - - - - 477742 - Nodular fasciitis - - - Preferential parent - - - - - - 477808 - Other genetic dermis disorder - - - Preferential parent - - - - - - 481662 - Familial Chilblain lupus - - - Preferential parent - - - - - - 481771 - Genetic alopecia - - - Preferential parent - - - - - - 493342 - Vibratory urticaria - - - Preferential parent - - - - - - 497737 - Epidermolytic nevus - - - Preferential parent - - - - - - 497757 - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - - Preferential parent - - - - - - 498359 - Aquagenic palmoplantar keratoderma - - - Preferential parent - - - - - - 499182 - Pilomatrix carcinoma - - - Preferential parent - - - - - - 502499 - Erythema multiforme major - - - Preferential parent - - - - - - 506784 - Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome - - - Preferential parent - - - - - - 508512 - Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome - - - Preferential parent - - - - - - 508529 - Intermediate epidermolysis bullosa simplex with cardiomyopathy - - - Preferential parent - - - - - - 512103 - Autosomal recessive epidermolytic ichthyosis - - - Preferential parent - - - - - - 529864 - Secondary erythromelalgia - - - Preferential parent - - - - - - 530838 - KRT1-related diffuse nonepidermolytic keratoderma - - - Preferential parent - - - - - - 538863 - Classic pyoderma gangrenosum - - - Preferential parent - - - - - - 538866 - Pustular pyoderma gangrenosum - - - Preferential parent - - - - - - 538869 - Bullous pyoderma gangrenosum - - - Preferential parent - - - - - - 538872 - Vegetative pyoderma gangrenosum - - - Preferential parent - - - - - - 542592 - Necrobiosis lipoidica - - - Preferential parent - - - - - - 542643 - Livedoid vasculopathy - - - Preferential parent - - - - - - 542657 - Isolated hyperchlorhidrosis - - - Preferential parent - - - - - - 555905 - IgA pemphigus - - - Preferential parent - - - - - - 595346 - Epidermolysis bullosa simplex without extracutaneous involvement - - - Preferential parent - - - - - - 595351 - Epidermolysis bullosa simplex with extracutaneous involvement - - - Preferential parent - - - - - - 595356 - Localized dystrophic epidermolysis bullosa - - - Preferential parent - - - - - - 597733 - Oculocutaneous albinism type 8 - - - Preferential parent - - - - - - 615943 - Granuloma faciale - - - Preferential parent - - - - - - 617408 - Classic eosinophilic pustular folliculitis - - - Preferential parent - - - - - - 622914 - Rare genetic nevus - - - Preferential parent - - - - - - 634511 - Mosaic Legius syndrome - - - Preferential parent - - - - - - 636955 - Endemic pemphigus foliaceus - - - Preferential parent - - - - - - 656071 - Atrophic papulosis - - - Preferential parent - - - - - - 656085 - Benign atrophic papulosis - - - Preferential parent - - - - - - 658810 - Atrophoderma of Pasini and Pierini - - - Preferential parent - - - - - - 664787 - Nicolau syndrome - - - Preferential parent - - - - - - 673525 - Intravascular papillary endothelial hyperplasia - - - Preferential parent - - - - - - 673568 - Eccrine angiomatous hamartoma - - - Preferential parent - - - - - - 699057 - Annular erythema of infancy - - - Preferential parent - - - - - - 521268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268 - Sodium-dependent multivitamin transporter deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 521305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305 - Proximal myopathy with focal depletion of mitochondria - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 521308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308 - Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 521390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 521406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 89838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 - Autosomal recessive generalized epidermolysis bullosa simplex - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 521411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 520820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520820 - Progressive external ophthalmoplegia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 521123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521123 - Radiation-induced plexopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 521127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521127 - Osteoradionecrosis of the mandible - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 521132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521132 - Radiation-induced disorder - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 521219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521219 - Mirizzi syndrome - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 89043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89043 - Rare dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 521232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521232 - Genetic primary orthostatic disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 521236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521236 - Primary orthostatic disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 88949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 - MUC1-related autosomal dominant tubulointerstitial kidney disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 88950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 - UMOD-related autosomal dominant tubulointerstitial kidney disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 88991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88991 - Rare congenital non-syndromic heart malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 88993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88993 - Esophageal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 520817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520817 - Isolated inherited retinal disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 520814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520814 - Rare disorder of the visual organs - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 - Pseudohypoaldosteronism type 2C - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 88939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 - Pseudohypoaldosteronism type 2B - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 519930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519930 - Fungal keratitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 88938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938 - Pseudohypoaldosteronism type 2A - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 88924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 - Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 - Fragile X-associated tremor/ataxia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 528105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 528091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 528084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084 - Non-specific syndromic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 - Crouzon syndrome-acanthosis nigricans syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 - Pfeiffer syndrome type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 - Pfeiffer syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 - Pfeiffer syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 - Short rib-polydactyly syndrome, Majewski type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 - Cloverleaf skull-multiple congenital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 - Short rib-polydactyly syndrome, Beemer-Langer type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 - Spondyloepiphyseal dysplasia, Kimberley type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 - Polyostotic fibrous dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 - Monostotic fibrous dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108 - Renal dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 527497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101 - Renal hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 - Posterior urethral valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109 - Congenital megacalycosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 527450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 - Severe myopia-generalized joint laxity-short stature syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 91547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91547 - Relapsing fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 93100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 - Renal agenesis, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 527468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 92050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 - Congenital tufting enteropathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 93160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 - Hypocalcemic vitamin D-resistant rickets - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93164 - Transient pseudohypoaldosteronism - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 93126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126 - Pauci-immune glomerulonephritis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177 - Congenital bilateral megacalycosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 - Renal dysplasia, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 - Renal dysplasia, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176 - Unilateral congenital megacalycosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 - Isolated tibial hemimelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 - Isolated radial hemimelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320 - Isolated ulnar hemimelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 - Autosomal dominant Kenny-Caffey syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 - Autosomal recessive Kenny-Caffey syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323 - Isolated fibular hemimelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 - Autosomal recessive omodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 - Autosomal dominant omodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 - Polydactyly of a triphalangeal thumb - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 - Postaxial polydactyly type B - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 - Postaxial polydactyly type A - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 - Pelviscapular dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 - Polydactyly of a biphalangeal thumb and/or hallux - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337 - Polydactyly of an index finger - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 527276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 - Polysyndactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 - X-linked spondyloepimetaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 - Anauxetic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 - Spondyloepimetaphyseal dysplasia, Missouri type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351 - Spondyloepimetaphyseal dysplasia, Irapa type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 - Spondyloepimetaphyseal dysplasia, Shohat type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 - Spondyloepiphyseal dysplasia tarda - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292 - Adenoma of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 93293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 - Okihiro syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 - Achondrogenesis type 2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 - Achondrogenesis type 1B - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 - Hypochondrogenesis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 - Achondrogenesis type 1A - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302 - Brachyolmia, Maroteaux type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 - Autosomal dominant brachyolmia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 - Multiple epiphyseal dysplasia type 4 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 - Multiple epiphyseal dysplasia type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 - Multiple epiphyseal dysplasia type 5 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 - Spondylometaphyseal dysplasia, Kozlowski type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 - Spondylometaphyseal dysplasia, Schmidt type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 - Spondylometaphyseal dysplasia, Sedaghatian type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 90692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90692 - Rare endocrine growth disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 529962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 - 17q24.2 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 529864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864 - Secondary erythromelalgia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 529852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852 - Combined hepatocellular carcinoma and cholangiocarcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 90673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673 - Hypothyroidism due to TSH receptor mutations - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 90674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 - Isolated thyroid-stimulating hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 529831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529831 - Letrozole toxicity - - - - 108999 - Rare disorder due to toxic effects - - - - Preferential parent - - - - - - 529808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808 - Chronic bilirubin encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 - Charcot-Marie-Tooth disease type 1E - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 529799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799 - Acute bilirubin encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787 - 46,XY difference of sex development due to testicular steroidogenesis defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786 - 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783 - 46,XY difference of sex development due to a testosterone synthesis defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776 - 46,XX difference of sex development induced by fetal androgens excess - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90771 - Difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 529980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980 - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 530033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033 - Dermoid or epidermoid cyst of the central nervous system - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 529974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529974 - Immune dysregulation with inflammatory bowel disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 529977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 90695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 - Non-acquired panhypopituitarism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 529965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965 - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 529970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970 - Male infertility due to acephalic spermatozoa - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 90400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90400 - Scleromyxedema without monoclonal gammopathy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625 - Rare X-linked non-syndromic sensorineural deafness type DFN - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 90635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635 - Rare autosomal dominant non-syndromic sensorineural deafness type DFNA - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 90636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636 - Rare autosomal recessive non-syndromic sensorineural deafness type DFNB - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 90396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90396 - Acral persistent papular mucinosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 529468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468 - Monoclonal mast cell activation syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 90397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90397 - Self-healing papular mucinosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 90398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90398 - Localized lichen myxedematosus with mixed features of different subtypes - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90399 - Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90393 - Nodular lichen myxedematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90394 - Discrete papular lichen myxedematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90395 - Papular mucinosis of infancy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368 - Hypotrichosis simplex of the scalp - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389 - Telangiectasia macularis eruptiva perstans - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390 - Anonychia-onychodystrophy syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 529665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 - Jervell and Lange-Nielsen syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 90646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646 - Deafness-hypogonadism syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 90642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642 - Syndromic genetic deafness - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 90641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 - Rare mitochondrial non-syndromic sensorineural deafness - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 91387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387 - Familial thoracic aortic aneurysm and aortic dissection - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396 - Isolated cryptophthalmia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91378 - Hereditary angioedema - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 91385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91385 - Acquired angioedema - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 91412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412 - Marcus-Gunn syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413 - Congenital Horner syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 - Isolated ankyloblepharon filiforme adnatum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 - Congenital ptosis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91357 - Duplication of the esophagus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91354 - Pituitary deficiency due to empty sella turcica syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355 - Sheehan syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91364 - Non-specific interstitial pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 91358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358 - Congenital esophageal diverticulum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359 - Chronic pneumonitis of infancy - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 91496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 - Snowflake vitreoretinal degeneration - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 - Persistent hyperplastic primary vitreous - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 - Macular coloboma-cleft palate-hallux valgus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492 - Early onset non-syndromic cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91546 - Lyme disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 91500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91500 - Tubulointerstitial nephritis and uveitis syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 91498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498 - Familial congenital palsy of trochlear nerve - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481 - Ring dermoid of cornea - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 91416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416 - Isolated congenital alacrima - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414 - Pilomatrixoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 91491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491 - Congenital ectropion uveae - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490 - Isolated congenital sclerocornea - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489 - Isolated congenital megalocornea - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 91127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91127 - Adenovirus infection in immunocompromised patients - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 91130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 91132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 - Ichthyosis-hypotrichosis syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 - 46,XY difference of sex development due to isolated 17,20-lyase deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 - Partial androgen insensitivity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 90970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970 - Primary lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91024 - Autosomal recessive axonal hereditary motor and sensory neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 91088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088 - Other metabolic disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 91347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347 - TSH-secreting pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349 - Non-functioning pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348 - Functioning gonadotropic adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351 - Pituitary dermoid and epidermoid cysts - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350 - Pituitary deficiency due to Rathke cleft cysts - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 91352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 - Germinoma of the central nervous system - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 91136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136 - Acquired monoclonal Ig light chain-associated Fanconi syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 91135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135 - Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 91138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138 - Cryoglobulinemic vasculitis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 91137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91137 - Immunotactoid or fibrillary glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 91140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91140 - Unspecified juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 91139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139 - Simple cryoglobulinemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 528623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528623 - Hereditary angioedema with C1Inh deficiency - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 91144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144 - 46,XX difference of sex development induced by maternal-derived androgen - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 528647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528647 - Hereditary angioedema with normal C1Inh - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 528663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528663 - Acquired angioedema with C1Inh deficiency - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 79384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79384 - Rare urticaria - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79385 - Unclassified genetic skin disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79382 - Subcutaneous tissue disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79388 - Mucopolysaccharidosis with skin involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79389 - Premature aging - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79386 - Rare skin tumor or hamartoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79387 - Metabolic disease with skin involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79390 - Rare photodermatosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79391 - Immune deficiency with skin involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396 - Autosomal dominant generalized epidermolysis bullosa simplex, severe form - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397 - Epidermolysis bullosa simplex with mottled pigmentation - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 - Congenital ichthyosiform erythroderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 - Keratoderma hereditarium mutilans with ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79369 - Isolated nail anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79368 - Nail anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79367 - Syndromic hair shaft abnormality - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79366 - Isolated hair shaft abnormality - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373 - Ectodermal dysplasia syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79372 - Sebaceous gland anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79370 - Syndromic nail anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79377 - Dermis disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79376 - Hypopigmentation of the skin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79375 - Hyperpigmentation of the skin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79374 - Pigmentation anomaly of the skin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79381 - Other dermis disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79380 - Mixed dermis disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79379 - Skin vascular disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79378 - Dermis elastic tissue disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414 - Woolly hair nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399 - Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 - PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400 - Localized epidermolysis bullosa simplex - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 - Junctional epidermolysis bullosa with pyloric atresia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 - Intermediate generalized junctional epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405 - Junctional epidermolysis bullosa inversa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 - Severe generalized junctional epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 - Late-onset junctional epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 - Recessive dystrophic epidermolysis bullosa inversa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 - Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 - Self-improving dystrophic epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 - Localized dystrophic epidermolysis bullosa, pretibial form - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 - Milroy disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447 - X-linked lethal multiple pterygium syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456 - Diffuse cutaneous mastocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457 - Maculopapular cutaneous mastocytosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455 - Cutaneous mastocytoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 - Oculocutaneous albinism type 4 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 - Oculocutaneous albinism type 1B - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 - Oculocutaneous albinism type 3 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 - Oculocutaneous albinism type 2 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 - Oculocutaneous albinism type 1A - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 - Hermansky-Pudlak syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 - Phakomatosis cesioflammea - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 - Phakomatosis cesiomarmorata - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485 - Phakomatosis spilorosea - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 - Griscelli syndrome type 3 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79479 - Pemphigus vegetans - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79480 - Pemphigus erythematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79481 - Pemphigus foliaceus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490 - Microcystic lymphatic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492 - Pili gemini - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493 - Brooke-Spiegler syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489 - Macrocystic lymphatic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79467 - Verrucous nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79466 - Inflammatory linear verrucous epidermal nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79468 - Acanthokeratolytic verrucous nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474 - Atypical Werner syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 - Griscelli syndrome type 2 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 - Griscelli syndrome type 1 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 - GM1 gangliosidosis type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254 - Classic phenylketonuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 - Pyruvate dehydrogenase phosphatase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253 - Mild phenylketonuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 - Biotinidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 - Galactose epimerase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 - Pyruvate dehydrogenase E2 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 - Holocarboxylase synthetase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 - Pyruvate dehydrogenase E1-alpha deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 - Congenital glucokinase-related hyperinsulinism - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298 - Diazoxide-resistant focal hyperinsulinism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 - Congenital bile acid synthesis defect type 1 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 - Familial LCAT deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 - Fish-eye disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 - ALG1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 - ALG12-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 - DPM1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 - ALG3-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 - L-2-hydroxyglutaric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 - D-2-hydroxyglutaric aciduria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 - Vitamin B12-responsive methylmalonic acidemia type cblA - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 - Vitamin B12-responsive methylmalonic acidemia type cblB - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 - Progressive familial intrahepatic cholestasis type 1 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 - Progressive familial intrahepatic cholestasis type 2 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 - Progressive familial intrahepatic cholestasis type 3 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 - Congenital bile acid synthesis defect type 3 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 - Congenital bile acid synthesis defect type 2 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 79363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79363 - Hair anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79362 - Epidermal appendage anomaly - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79365 - Rare disorder with hypertrichosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79364 - Alopecia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79359 - Other epidermal disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79358 - Porokeratosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361 - Inherited epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79360 - Other genetic epidermal disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79355 - Erythrokeratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79354 - Ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79357 - Hereditary palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79356 - Acrokeratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 79353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79353 - Epidermal disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346 - Chondrodysplasia punctata, tibial-metacarpal type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 79347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347 - Chondrodysplasia punctata, Toriello type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 79345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 - Brachytelephalangic chondrodysplasia punctata - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 - Singleton-Merten dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188 - Metaphyseal dysplasia, Braun-Tinschert type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 - Idiopathic juvenile osteoporosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192 - Calvarial doughnut lesions-bone fragility syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195 - Familial expansile osteolysis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197 - Genochondromatosis type 1 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 - Craniosynostosis-anal anomalies-porokeratosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198 - Dysspondyloenchondromatosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 - Genitopatellar syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203 - Acropectoral syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 - Keutel syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273 - X-linked intellectual disability, Abidi type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 - Fetal Gaucher disease - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 85274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274 - Syndromic X-linked intellectual disability 7 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276 - X-linked intellectual disability, Armfield type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277 - X-linked intellectual disability, Cantagrel type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 - Christianson syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 - KDM5C-related syndromic X-linked intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280 - X-linked intellectual disability-cubitus valgus-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283 - X-linked intellectual disability, Miles-Carpenter type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 - BRESEK syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285 - X-linked intellectual disability, Schimke type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 - X-linked intellectual disability, Shashi type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287 - X-linked intellectual disability, Siderius type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 - X-linked intellectual disability, Stocco Dos Santos type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293 - X-linked intellectual disability, Cabezas type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 - X-linked spinocerebellar ataxia type 4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290 - X-linked intellectual disability, Wilson type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317 - X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 - X-linked spinocerebellar ataxia type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 - HSD10 disease, atypical type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 - X-linked epilepsy-learning disabilities-behavior disorders syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 - Deafness-intellectual disability syndrome, Martin-Probst type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320 - X-linked intellectual disability-macrocephaly-macroorchidism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319 - X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 - X-linked intellectual disability, Stevenson type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324 - X-linked intellectual disability, Shrimpton type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323 - X-linked intellectual disability, Seemanova type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322 - X-linked intellectual disability, Pai type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 - X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326 - X-linked intellectual disability, Stoll type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327 - X-linked intellectual disability-acromegaly-hyperactivity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 - X-linked intellectual disability-retinitis pigmentosa syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336 - X-linked neurodegenerative syndrome, Hamel type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334 - X-linked neurodegenerative syndrome, Bertini type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 - Fried syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410 - Oligoarticular juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414 - Systemic-onset juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338 - X-linked intellectual disability-ataxia-apraxia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408 - Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 - AL amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442 - Short stature-pituitary and cerebellar defects-small sella turcica syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 85446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85446 - Wild type ABeta2M amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445 - AA amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436 - Psoriasis-related juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435 - Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438 - Enthesitis-related juvenile idiopathic arthritis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458 - Cerebral Amyloid Angiopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 85453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 - X-linked reticulate pigmentary disorder - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 86788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788 - X-linked severe congenital neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 86309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 - DPAGT1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 85448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448 - AGel amyloidosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 85447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 - ATTRV30M amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 85451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 - ATTRV122I amyloidosis - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 85450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450 - Hereditary amyloidosis with primary renal involvement - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813 - Helicoid peripapillary chorioretinal degeneration - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 86814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 - Familial adult myoclonic epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815 - Aplasia of lacrimal and salivary glands - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 86789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789 - Isolated patella aplasia/hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86795 - Localized lichen myxedematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 86797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86797 - Atypical lichen myxedematosus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 86820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820 - Familial avascular necrosis of femoral head - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 86821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 - Lissencephaly with cerebellar hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816 - Congenital analbuminemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 512017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017 - Chronic lymphoproliferative disorder of natural killer cells - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817 - Hemolytic anemia due to adenylate kinase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 86818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 86819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819 - Atrichia with papular lesions - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 512034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034 - Large granular lymphocyte leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843 - Acute panmyelosis with myelofibrosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841 - Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839 - Myelodysplastic neoplasm with increased blasts - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836 - Refractory cytopenia with multilineage dysplasia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 512103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103 - Autosomal recessive epidermolytic ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 86834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834 - Juvenile myelomonocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830 - Chronic myeloproliferative disease, unclassifiable - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829 - Chronic neutrophilic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855 - Plasmacytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 512260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 - Congenital cerebellar ataxia due to RNU12 mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 86854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854 - Splenic marginal zone lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852 - B-cell prolymphocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851 - Acute leukemia of ambiguous lineage - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850 - Myeloid sarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849 - Acute basophilic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846 - Therapy related acute myeloid leukemia and myelodysplastic syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845 - Acute myeloid leukaemia with myelodysplasia-related features - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872 - T-cell large granular lymphocyte leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873 - Aggressive NK-cell leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870 - Blastic plasmacytoid dendritic cell neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871 - T-cell prolymphocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867 - Nodal marginal zone B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869 - Lymphomatoid granulomatosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861 - Non-amyloid monoclonal immunoglobulin deposition disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864 - Heavy chain disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886 - Angioimmunoblastic T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893 - Nodular lymphocyte predominant Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 - Subcutaneous panniculitis-like T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885 - Primary cutaneous peripheral T-cell lymphoma not otherwise specified - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880 - Enteropathy-associated T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882 - Hepatosplenic T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875 - Adult T-cell leukemia/lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 86879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879 - Extranodal nasal NK/T cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 79502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502 - Punctate palmoplantar keratoderma type 2 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503 - Ichthyosis hystrix of Curth-Macklin - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507 - Hypotonia-failure to thrive-microcephaly syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 - X-linked congenital generalized hypertrichosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 - Punctate palmoplantar keratoderma type 1 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 79669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79669 - Autoimmune bullous skin disease - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 83001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83001 - Urogenital tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 79643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 - Autosomal recessive hyperinsulinism due to SUR1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 - Mild hyperphenylalaninemia - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 79644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 83317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83317 - Scrub typhus - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330 - Proximal spinal muscular atrophy type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83315 - Murine typhus - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83316 - Pseudotyphus of California - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419 - Proximal spinal muscular atrophy type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83420 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420 - Proximal spinal muscular atrophy type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418 - Proximal spinal muscular atrophy type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83313 - Boutonneuse fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83314 - Epidemic typhus - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83311 - Rocky Mountain spotted fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83312 - Rickettsialpox - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469 - Desmoplastic small round cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 83468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468 - Solitary bone cyst - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 83467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467 - Morvan syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465 - Narcolepsy type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476 - West-Nile encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471 - T-cell immunodeficiency with thymic aplasia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 83452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83452 - Complex regional pain syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451 - Florid cemento-osseous dysplasia - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 83450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450 - Regional odontodysplasia - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 83463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 - Microtia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 - Congenital primary aphakia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 - Glomuvenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453 - Vulvovaginal gingival syndrome - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 514352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514352 - Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619 - Macrostomia-preauricular tags-external ophthalmoplegia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 - Enteric anendocrinosis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 83628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 - LUMBAR syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601 - Steroid-responsive encephalopathy associated with autoimmune thyroiditis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616 - Rubella panencephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 - Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594 - Eastern equine encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595 - Colorado tick fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597 - Acute disseminated encephalomyelitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600 - Encephalitis lethargica - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482 - Mycoplasma encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483 - La Crosse encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484 - St. Louis encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 83593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83593 - Western equine encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 84085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84085 - Hinman syndrome - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 84081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081 - Senior-Boichis syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 84090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090 - Fibronectin glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 84087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84087 - Collagen type III glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 84064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 - Syndromic diarrhea - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 84065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065 - Idiopathic malabsorption due to bile acid synthesis defects - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 513436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436 - Autosomal recessive spastic paraplegia type 78 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 83639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 83629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 513456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456 - Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 83642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 - Microcytic anemia with liver iron overload - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 85163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 - Hypomyelination-congenital cataract syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 - Camptodactyly-tall stature-scoliosis-hearing loss syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 - Neurogenic scapuloperoneal syndrome, Kaeser type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 85162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162 - Facial onset sensory and motor neuronopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 85138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85138 - Addison disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 85128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 - Bothnia retinal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 85136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136 - Cystic leukoencephalopathy without megalencephaly - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 85110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110 - Familial encephalopathy with neuroserpin inclusion bodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 85112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85102 - Perineurioma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 84132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 - Desmin-related myopathy with Mallory body-like inclusions - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 84142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142 - Isaacs syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 84093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093 - Hereditary thermosensitive neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 85186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 - Endosteal sclerosis-cerebellar hypoplasia syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184 - Craniometadiaphyseal dysplasia, wormian bone type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 - Diaphyseal medullary stenosis-bone malignancy syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 - Infantile osteopetrosis with neuroaxonal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175 - Astley-Kendall dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174 - Pseudodiastrophic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 - IMAGe syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170 - Mesomelic dysplasia, Savarirayan type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 - Familial digital arthropathy-brachydactyly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 85168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168 - Craniofacial conodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 - Platyspondylic dysplasia, Torrance type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 85165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 603448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 603515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515 - Isolated female hypospadias - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 603689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 - KLHL7-related Bohring-Opitz-like syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 603684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98127 - Autosomal anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 603699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603699 - Recessive KLHL7-related disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 603694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 - KLHL7-related Crisponi/cold-induced sweating-like syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98130 - Autosomal trisomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98131 - Total autosomal trisomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98132 - Partial autosomal duplication/triplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98152 - Autosomal uniparental disomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98153 - Maternal uniparental disomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98156 - Sex-chromosome number anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98157 - Sex-chromosome structural anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98154 - Paternal uniparental disomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98155 - Sex-chromosome anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98158 - Chromosome Y structural anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98159 - Chromosome X structural anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98141 - Total autosomal monosomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98142 - Partial autosomal deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98058 - Rare urinary tract tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98059 - Rare digestive tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98060 - Rare respiratory tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98061 - Rare otorhinolaryngologic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98054 - Rare genetic cardiac disease - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 98056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98056 - Rare genetic renal disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 98057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98057 - Rare tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 610573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 - CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98062 - Rare nervous system tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98063 - Rare gynecological tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 610569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98043 - Diaphragmatic or abdominal wall malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98045 - Respiratory or mediastinal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 604680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=604680 - Symptomatic form of X-linked centronuclear myopathy in female carriers - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98044 - Central nervous system malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98039 - Digestive tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98038 - Cranial malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98041 - Visceral malformation of the liver, biliary tract, pancreas or spleen - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98050 - Rare allergic disease - - - - - 98053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98053 - Rare genetic disease - - - - - 98301 - Laminopathy - - - Preferential parent - - - - - - 168612 - Congenital deficiency in alpha-fetoprotein - - - Preferential parent - - - - - - 168615 - Hereditary persistence of alpha-fetoprotein - - - Preferential parent - - - - - - 250805 - Serpinopathy - - - Preferential parent - - - - - - 250808 - Serpinopathy with toxic serpin polymerization - - - Preferential parent - - - - - - 250811 - Serpinopathy with loss of serpin function - - - Preferential parent - - - - - - 254704 - Genetic hyperferritinemia without iron overload - - - Preferential parent - - - - - - 363250 - Ciliopathy - - - Preferential parent - - - - - - 447874 - Biological anomaly without phenotypic characterization - - - Preferential parent - - - - - - 641343 - Imprinting disorders - - - Preferential parent - - - - - - 98052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98052 - Rare allergic respiratory disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 98047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98047 - Rare infertility - - - - - 1646 - Chromosome Y microdeletion syndrome - - - Preferential parent - - - - - - 98048 - Rare male infertility - - - Preferential parent - - - - - - 98049 - Rare female infertility - - - Preferential parent - - - - - - 98343 - Male infertility due to obstructive azoospermia - - - Preferential parent - - - - - - 137893 - Male infertility due to large-headed multiflagellar polyploid spermatozoa - - - Preferential parent - - - - - - 171709 - Male infertility due to globozoospermia - - - Preferential parent - - - - - - 275742 - Genetic infertility - - - Preferential parent - - - - - - 276234 - Non-syndromic male infertility due to sperm motility disorder - - - Preferential parent - - - - - - 399805 - Male infertility with azoospermia or oligozoospermia due to single gene mutation - - - Preferential parent - - - - - - 399808 - Male infertility with teratozoospermia due to single gene mutation - - - Preferential parent - - - - - - 399824 - Rare disorder with obstructive azoospermia - - - Preferential parent - - - - - - 399980 - Rare genetic male infertility - - - Preferential parent - - - - - - 399998 - Male infertility due to obstructive azoospermia of genetic origin - - - Preferential parent - - - - - - 400003 - Rare genetic disorder with obstructive azoospermia - - - Preferential parent - - - - - - 400008 - Rare genetic female infertility - - - Preferential parent - - - - - - 404466 - Female infertility due to zona pellucida defect - - - Preferential parent - - - - - - 488191 - Female infertility due to oocyte meiotic arrest - - - Preferential parent - - - - - - 529970 - Male infertility due to acephalic spermatozoa - - - Preferential parent - - - - - - 98049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98049 - Rare female infertility - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 98048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98048 - Rare male infertility - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 98086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086 - 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087 - Syndrome with 46,XY difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 - Autosomal recessive degenerative and progressive cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 - Autosomal recessive syndromic cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 - Autosomal recessive metabolic cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 - Autosomal recessive cerebellar ataxia due to a DNA repair defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 - Autosomal recessive congenital cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 611256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 - Pontocerebellar hypoplasia type 12 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 611314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611314 - Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 611237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 - Parkinsonism with polyneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 611247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 - Pontocerebellar hypoplasia type 11 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98074 - Gonadal dysgenesis of gynecological interest - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 611216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 - Aplastic anemia-intellectual disability-dwarfism syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 611223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 - EN1-related dorsoventral syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 613267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 - Pontocerebellar hypoplasia type 13 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085 - 46,XY difference of sex development - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 613274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 - Pontocerebellar hypoplasia type 14 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 611327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611327 - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98078 - 46,XX difference of sex development induced by androgens excess - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98255 - Chronic encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98260 - Adolescent-onset epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98259 - Childhood-onset epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261 - Progressive myoclonic epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249 - Ehlers-Danlos syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 600832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600832 - Legionella infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 98252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98252 - Infectious encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 600668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668 - CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 - NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 600691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600691 - Combined deficiency of factor VII and factor X - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 600731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731 - Clark-Baraitser syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98290 - Immunodeficiency-associated lymphoproliferative disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 98289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98289 - Dendritic cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98288 - Macrophage or histiocytic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287 - Histiocytic and dendritic cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293 - Hodgkin lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98292 - Mastocytosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98291 - Lymphoproliferative disease associated with primary immune disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98282 - Plasma cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274 - Myeloproliferative neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277 - Acute myeloid leukemia with recurrent genetic anomaly - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275 - Myelodysplastic/myeloproliferative disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267 - Genetic non-syndromic obesity - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 98196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98196 - Malformation syndrome with hamartosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 601028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601028 - Non-syndromic rectovaginal fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 601033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601033 - Non-syndromic H-type fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 601008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601008 - Non-syndromic anal stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 601013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601013 - Non-syndromic pouch colon - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 601018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601018 - Non-syndromic rectal atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 601023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601023 - Non-syndromic rectal stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600984 - Non-syndromic rectovesical fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600993 - Non-syndromic vestibular fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600998 - Non-syndromic cloacal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 601002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601002 - Non-syndromic anorectal malformation without fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600961 - Non-syndromic rectourethral fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600952 - Non-syndromic perineal fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600975 - Non-syndromic rectourethral fistula, prostatic type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 600966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600966 - Non-syndromic rectourethral fistula, bulbar type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98203 - Combined dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245 - Congenital myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 - Rigid spine syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242 - Congenital muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261 - GRFoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253 - Neuroendocrine tumor of pancreas - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252 - Mega-cisterna magna - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 - Pontocerebellar hypoplasia type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279 - Insulinoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278 - PPoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97275 - Encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285 - Thyroid lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 97283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 - Somatostatinoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282 - VIPoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280 - Glucagonoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97289 - Thymic neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 97290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290 - Familial papillary thyroid carcinoma with renal papillary neoplasia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 97286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 - Carney-Stratakis syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 97287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287 - Bronchial neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 97293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97293 - Rare benign ovarian tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 97292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97292 - Cardiogenic shock - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 97332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332 - Kienbock disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 97335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335 - Osgood-Schlatter disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 97297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 - Bohring-Opitz syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97330 - Thoracic outlet syndrome - - - - 97962 - Rare surgical thoracic disease - - - - Preferential parent - - - - - - 97338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97338 - Melanoma of soft tissue - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 97339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339 - Dural sinus malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336 - Panner disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 97337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337 - Sinding-Larsen-Johansson disease - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 97341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341 - Persistent placoid maculopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 97340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340 - Hunter-McAlpine syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 - ADan amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 - ABri amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97349 - Postencephalitic parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97352 - Pellagra - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 97353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97353 - Dementia pugilistica - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 - Robinow syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97355 - Caribbean parkinsonism - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361 - Renal hypoplasia, unilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 - Renal hypoplasia, bilateral - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 - Unilateral multicystic dysplastic kidney - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 - Bilateral multicystic dysplastic kidney - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366 - Multiloculated renal cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367 - Renal tubular dysgenesis due to twin-twin transfusion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368 - Drug-related renal tubular dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 - Renal tubular dysgenesis of genetic origin - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 - Right sided atrial isomerism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560 - Primary membranous glomerulonephritis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 96183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96183 - Maternal uniparental disomy of chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181 - Maternal uniparental disomy of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180 - Maternal uniparental disomy of chromosome 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179 - Maternal uniparental disomy of chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178 - Ring chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177 - Ring chromosome 15 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176 - Ring chromosome 13 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191 - Paternal uniparental disomy of chromosome 6 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190 - Paternal uniparental disomy of chromosome 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188 - Maternal uniparental disomy of chromosome 22 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187 - Maternal uniparental disomy of chromosome 21 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186 - Maternal uniparental disomy of chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185 - Maternal uniparental disomy of chromosome 16 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96194 - Paternal uniparental disomy of chromosome 20 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96195 - Paternal uniparental disomy of chromosome 21 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192 - Paternal uniparental disomy of chromosome 7 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96256 - Somatotropic adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 96210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96210 - Rare genetic deafness - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 96253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253 - Cushing disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 96201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201 - X small rings syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96321 - Polyploidy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 - Isolated partial vaginal agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 - Leydig cell hypoplasia due to partial LH resistance - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 - Leydig cell hypoplasia due to complete LH resistance - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96344 - Rare gynecologic or obstetric disease - - - - - 2456 - Familial supernumerary nipples - - - Preferential parent - - - - - - 64722 - Granulomatous mastitis - - - Preferential parent - - - - - - 64739 - Ovarian hyperstimulation syndrome - - - Preferential parent - - - - - - 83453 - Vulvovaginal gingival syndrome - - - Preferential parent - - - - - - 95431 - Twin to twin transfusion syndrome - - - Preferential parent - - - - - - 137686 - Asherman syndrome - - - Preferential parent - - - - - - 137820 - Extrapelvic endometriosis - - - Preferential parent - - - - - - 163637 - Rare disorder related with pregnancy, childbirth and puerperium - - - Preferential parent - - - - - - 180176 - Familial juvenile hypertrophy of the breast - - - Preferential parent - - - - - - 180199 - Rare non-malformative gynecologic or obstetric disease - - - Preferential parent - - - - - - 180202 - Rare non-malformative breast disease - - - Preferential parent - - - - - - 180205 - Rare non-malformative uterovaginal or vulvovaginal disease - - - Preferential parent - - - - - - 180208 - Anomaly of puberty or/and menstrual cycle - - - Preferential parent - - - - - - 180303 - Rare non-malformative uterine adnexal disease - - - Preferential parent - - - - - - 183731 - Rare genetic gynecological and obstetrical diseases - - - Preferential parent - - - - - - 202940 - Anomaly of puberty or/and menstrual cycle of genetic origin - - - Preferential parent - - - - - - 275555 - Preeclampsia - - - Preferential parent - - - - - - 289385 - Malignancy diagnosed during pregnancy - - - Preferential parent - - - - - - 439167 - Placental insufficiency - - - Preferential parent - - - - - - 498251 - Menstrual cycle-dependent periodic fever - - - Preferential parent - - - - - - 589746 - Inherited gynecological cancer-predisposing syndrome - - - Preferential parent - - - - - - 615970 - Chronic intervillositis of unknown etiology - - - Preferential parent - - - - - - 617294 - Twin anemia-polycythemia sequence - - - Preferential parent - - - - - - 617297 - Twin-reversed arterial perfusion sequence - - - Preferential parent - - - - - - 617301 - Selective intrauterine growth restriction - - - Preferential parent - - - - - - 617304 - Amniotic fluid embolism - - - Preferential parent - - - - - - 617307 - Rare disorder related to monochorionic twin pregnancy - - - Preferential parent - - - - - - 617310 - Rare disorder due to unbalanced inter-twin blood transfusion - - - Preferential parent - - - - - - 617313 - Rare disorder due to inadequate sharing of the placenta - - - Preferential parent - - - - - - 647823 - Idiopathic pregnancy-associated osteoporosis - - - Preferential parent - - - - - - 653698 - Lymphocytic mastitis - - - Preferential parent - - - - - - 662721 - Placenta accreta spectrum disorder - - - Preferential parent - - - - - - 662786 - Vasa previa - - - Preferential parent - - - - - - 96346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346 - Anorectal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96325 - Isochromosome Y syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333 - Rare otorhinolaryngological malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97120 - Distal arthrogryposis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97214 - Eisenmenger syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 - Glycogen storage disease due to phosphoglycerate mutase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 97238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 - Rippling muscle disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239 - Reducing body myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240 - Zebra body myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 - Riboflavin transporter deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97230 - Solar urticaria - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 97232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232 - Fingerprint body myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 97978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97978 - Rare endocrine disease - - - - - 631 - Non-acquired isolated growth hormone deficiency - - - Preferential parent - - - - - - 508 - Donohue syndrome - - - Preferential parent - - - - - - 14 - Abetalipoproteinemia - - - Preferential parent - - - - - - 963 - Acromegaly - - - Preferential parent - - - - - - 1672 - Diencephalic syndrome - - - Preferential parent - - - - - - 2233 - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - - Preferential parent - - - - - - 418 - Congenital adrenal hyperplasia - - - Preferential parent - - - - - - 442 - Congenital hypothyroidism - - - Preferential parent - - - - - - 3463 - Wolfram syndrome - - - Preferential parent - - - - - - 403 - Familial hyperaldosteronism type I - - - Preferential parent - - - - - - 754 - Androgen insensitivity syndrome - - - Preferential parent - - - - - - 650 - LCAT deficiency - - - Preferential parent - - - - - - 427 - Familial hypoaldosteronism - - - Preferential parent - - - - - - 71 - Chylomicron retention disease - - - Preferential parent - - - - - - 528 - Congenital generalized lipodystrophy - - - Preferential parent - - - - - - 657 - Congenital isolated hyperinsulinism - - - Preferential parent - - - - - - 3000 - Familial peripheral male-limited precocious puberty - - - Preferential parent - - - - - - 2297 - Insulin-resistance syndrome type A - - - Preferential parent - - - - - - 869 - Triple A syndrome - - - Preferential parent - - - - - - 977 - Adrenomyodystrophy - - - Preferential parent - - - - - - 1226 - Bamforth-Lazarus syndrome - - - Preferential parent - - - - - - 1227 - Bangstad syndrome - - - Preferential parent - - - - - - 1979 - Lipodystrophy due to peptidic growth factors deficiency - - - Preferential parent - - - - - - 2230 - Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome - - - Preferential parent - - - - - - 2232 - Primary hypergonadotropic hypogonadism-partial alopecia syndrome - - - Preferential parent - - - - - - 2238 - Familial isolated hypoparathyroidism - - - Preferential parent - - - - - - 2239 - Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - - - Preferential parent - - - - - - 2255 - Pancreatic hypoplasia-diabetes-congenital heart disease syndrome - - - Preferential parent - - - - - - 2348 - Familial partial lipodystrophy, Dunnigan type - - - Preferential parent - - - - - - 1359 - Carney complex - - - Preferential parent - - - - - - 2976 - Pseudoleprechaunism syndrome, Patterson type - - - Preferential parent - - - - - - 769 - Rabson-Mendenhall syndrome - - - Preferential parent - - - - - - 3143 - Autoimmune polyendocrinopathy type 2 - - - Preferential parent - - - - - - 3225 - Hearing loss-familial salivary gland insensitivity to aldosterone syndrome - - - Preferential parent - - - - - - 425 - Apolipoprotein A-I deficiency - - - Preferential parent - - - - - - 3453 - Autoimmune polyendocrinopathy type 1 - - - Preferential parent - - - - - - 3464 - Woodhouse-Sakati syndrome - - - Preferential parent - - - - - - 2349 - Muscular pseudohypertrophy-hypothyroidism syndrome - - - Preferential parent - - - - - - 478 - Kallmann syndrome - - - Preferential parent - - - - - - 633 - Laron syndrome - - - Preferential parent - - - - - - 412 - Dysbetalipoproteinemia - - - Preferential parent - - - - - - 424 - Familial hyperthyroidism due to mutations in TSH receptor - - - Preferential parent - - - - - - 2965 - Prolactinoma - - - Preferential parent - - - - - - 361 - Familial glucocorticoid deficiency - - - Preferential parent - - - - - - 913 - Zollinger-Ellison syndrome - - - Preferential parent - - - - - - 405 - Familial hypocalciuric hypercalcemia - - - Preferential parent - - - - - - 428 - Autosomal dominant hypocalcemia - - - Preferential parent - - - - - - 2298 - Insulin-resistance syndrome type B - - - Preferential parent - - - - - - 2207 - Familial primary hyperparathyroidism - - - Preferential parent - - - - - - 629 - Short stature due to growth hormone qualitative anomaly - - - Preferential parent - - - - - - 632 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - - - Preferential parent - - - - - - 552 - MODY - - - Preferential parent - - - - - - 224 - Neonatal diabetes mellitus - - - Preferential parent - - - - - - 432 - Normosmic congenital hypogonadotropic hypogonadism - - - Preferential parent - - - - - - 91 - Aromatase deficiency - - - Preferential parent - - - - - - 785 - Estrogen resistance syndrome - - - Preferential parent - - - - - - 786 - Generalized glucocorticoid resistance syndrome - - - Preferential parent - - - - - - 467 - Non-acquired combined pituitary hormone deficiency - - - Preferential parent - - - - - - 404 - Familial hyperaldosteronism type II - - - Preferential parent - - - - - - 320 - Apparent mineralocorticoid excess - - - Preferential parent - - - - - - 29072 - Hereditary pheochromocytoma-paraganglioma - - - Preferential parent - - - - - - 30925 - Hereditary arginine vasopressin deficiency - - - Preferential parent - - - - - - 31150 - Tangier disease - - - Preferential parent - - - - - - 31153 - Hypoalphalipoproteinemia - - - Preferential parent - - - - - - 31154 - Hypobetalipoproteinemia - - - Preferential parent - - - - - - 36913 - Autoimmune hypoparathyroidism - - - Preferential parent - - - - - - 68415 - Rare parathyroid disease and phosphocalcic metabolism anomaly - - - Preferential parent - - - - - - 52901 - Isolated follicle stimulating hormone deficiency - - - Preferential parent - - - - - - 54595 - Craniopharyngioma - - - Preferential parent - - - - - - 64744 - IgG4-related thyroid disease - - - Preferential parent - - - - - - 66518 - Short fifth metacarpals-insulin resistance syndrome - - - Preferential parent - - - - - - 66628 - Obesity due to congenital leptin deficiency - - - Preferential parent - - - - - - 67045 - X-linked intellectual disability with isolated growth hormone deficiency - - - Preferential parent - - - - - - 71526 - Obesity due to pro-opiomelanocortin deficiency - - - Preferential parent - - - - - - 71528 - Obesity due to prohormone convertase I deficiency - - - Preferential parent - - - - - - 71529 - Obesity due to melanocortin 4 receptor deficiency - - - Preferential parent - - - - - - 73272 - Growth delay due to insulin-like growth factor type 1 deficiency - - - Preferential parent - - - - - - 73273 - Growth delay due to insulin-like growth factor I resistance - - - Preferential parent - - - - - - 77828 - Genetic obesity - - - Preferential parent - - - - - - 79083 - PPARG-related familial partial lipodystrophy - - - Preferential parent - - - - - - 79084 - Familial partial lipodystrophy, Köbberling type - - - Preferential parent - - - - - - 79085 - AKT2-related familial partial lipodystrophy - - - Preferential parent - - - - - - 79086 - Acquired generalized lipodystrophy - - - Preferential parent - - - - - - 79087 - Acquired partial lipodystrophy - - - Preferential parent - - - - - - 79088 - Localized lipodystrophy - - - Preferential parent - - - - - - 79118 - Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome - - - Preferential parent - - - - - - 79134 - DEND syndrome - - - Preferential parent - - - - - - 79292 - Fish-eye disease - - - Preferential parent - - - - - - 79293 - Familial LCAT deficiency - - - Preferential parent - - - - - - 79298 - Diazoxide-resistant focal hyperinsulinism - - - Preferential parent - - - - - - 79443 - Pseudohypoparathyroidism type 1A - - - Preferential parent - - - - - - 79444 - Pseudohypoparathyroidism type 1C - - - Preferential parent - - - - - - 79445 - Pseudopseudohypoparathyroidism - - - Preferential parent - - - - - - 85138 - Addison disease - - - Preferential parent - - - - - - 85442 - Short stature-pituitary and cerebellar defects-small sella turcica syndrome - - - Preferential parent - - - - - - 88643 - Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome - - - Preferential parent - - - - - - 90301 - Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome - - - Preferential parent - - - - - - 90673 - Hypothyroidism due to TSH receptor mutations - - - Preferential parent - - - - - - 90674 - Isolated thyroid-stimulating hormone deficiency - - - Preferential parent - - - - - - 90692 - Rare endocrine growth disease - - - Preferential parent - - - - - - 90695 - Non-acquired panhypopituitarism - - - Preferential parent - - - - - - 90970 - Primary lipodystrophy - - - Preferential parent - - - - - - 91347 - TSH-secreting pituitary adenoma - - - Preferential parent - - - - - - 91348 - Functioning gonadotropic adenoma - - - Preferential parent - - - - - - 91349 - Non-functioning pituitary adenoma - - - Preferential parent - - - - - - 91350 - Pituitary deficiency due to Rathke cleft cysts - - - Preferential parent - - - - - - 91351 - Pituitary dermoid and epidermoid cysts - - - Preferential parent - - - - - - 91354 - Pituitary deficiency due to empty sella turcica syndrome - - - Preferential parent - - - - - - 91355 - Sheehan syndrome - - - Preferential parent - - - - - - 93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - - Preferential parent - - - - - - 93372 - Familial hypocalciuric hypercalcemia type 1 - - - Preferential parent - - - - - - 94080 - Non-functioning paraganglioma - - - Preferential parent - - - - - - 94089 - Pseudohypoparathyroidism type 1B - - - Preferential parent - - - - - - 94090 - Pseudohypoparathyroidism type 2 - - - Preferential parent - - - - - - 95409 - Acute adrenal insufficiency - - - Preferential parent - - - - - - 95488 - Non-acquired pituitary hormone deficiency - - - Preferential parent - - - - - - 95494 - Combined pituitary hormone deficiencies, genetic forms - - - Preferential parent - - - - - - 95495 - Disease associated with non-acquired combined pituitary hormone deficiency - - - Preferential parent - - - - - - 95496 - Pituitary stalk interruption syndrome - - - Preferential parent - - - - - - 95502 - Acquired pituitary hormone deficiency - - - Preferential parent - - - - - - 95503 - Pituitary hormone deficiency of tumoral origin - - - Preferential parent - - - - - - 95505 - Pituitary hormone deficiency of meningeal origin - - - Preferential parent - - - - - - 95506 - Primary hypophysitis - - - Preferential parent - - - - - - 95512 - Adenohypophysitis - - - Preferential parent - - - - - - 95513 - Panhypophysitis - - - Preferential parent - - - - - - 95611 - Pituitary hormone deficiency of vascular origin - - - Preferential parent - - - - - - 95613 - Pituitary apoplexy - - - Preferential parent - - - - - - 95617 - Pituitary hormone deficiency secondary to a granulomatous disease - - - Preferential parent - - - - - - 95618 - Pituitary hormone deficiency secondary to storage disease - - - Preferential parent - - - - - - 95619 - Post-traumatic pituitary deficiency - - - Preferential parent - - - - - - 95626 - Acquired arginine vasopressin deficiency - - - Preferential parent - - - - - - 95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - - Preferential parent - - - - - - 95702 - X-linked adrenal hypoplasia congenita - - - Preferential parent - - - - - - 95708 - Rare precocious puberty - - - Preferential parent - - - - - - 95709 - Rare acquired premature ovarian failure - - - Preferential parent - - - - - - 95710 - Rare non-acquired premature ovarian failure - - - Preferential parent - - - - - - 95711 - Congenital hypothyroidism due to developmental anomaly - - - Preferential parent - - - - - - 95712 - Thyroid ectopia - - - Preferential parent - - - - - - 95713 - Athyreosis - - - Preferential parent - - - - - - 95714 - Primary congenital hypothyroidism without thyroid developmental anomaly - - - Preferential parent - - - - - - 95715 - Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies - - - Preferential parent - - - - - - 95716 - Familial thyroid dyshormonogenesis - - - Preferential parent - - - - - - 95717 - Idiopathic congenital hypothyroidism - - - Preferential parent - - - - - - 95718 - Congenital thyroid malformation without hypothyroidism - - - Preferential parent - - - - - - 95719 - Thyroid hemiagenesis - - - Preferential parent - - - - - - 95720 - Thyroid hypoplasia - - - Preferential parent - - - - - - 96253 - Cushing disease - - - Preferential parent - - - - - - 96256 - Somatotropic adenoma - - - Preferential parent - - - - - - 97253 - Neuroendocrine tumor of pancreas - - - Preferential parent - - - - - - 97261 - GRFoma - - - Preferential parent - - - - - - 97278 - PPoma - - - Preferential parent - - - - - - 97279 - Insulinoma - - - Preferential parent - - - - - - 97280 - Glucagonoma - - - Preferential parent - - - - - - 97282 - VIPoma - - - Preferential parent - - - - - - 97283 - Somatostatinoma - - - Preferential parent - - - - - - 97593 - Pseudohypoparathyroidism - - - Preferential parent - - - - - - 98267 - Genetic non-syndromic obesity - - - Preferential parent - - - - - - 98305 - Genetic lipodystrophy - - - Preferential parent - - - - - - 98306 - Familial partial lipodystrophy - - - Preferential parent - - - - - - 98307 - Acquired lipodystrophy - - - Preferential parent - - - - - - 99408 - Pituitary adenoma - - - Preferential parent - - - - - - 99725 - Pituitary gigantism - - - Preferential parent - - - - - - 99819 - Familial gestational hyperthyroidism - - - Preferential parent - - - - - - 99832 - Resistance to thyrotropin-releasing hormone syndrome - - - Preferential parent - - - - - - 99879 - Familial isolated hyperparathyroidism - - - Preferential parent - - - - - - 99880 - Hyperparathyroidism-jaw tumor syndrome - - - Preferential parent - - - - - - 99885 - Isolated permanent neonatal diabetes mellitus - - - Preferential parent - - - - - - 99886 - Transient neonatal diabetes mellitus - - - Preferential parent - - - - - - 99889 - Cushing syndrome due to ectopic ACTH secretion - - - Preferential parent - - - - - - 99892 - ACTH-dependent Cushing syndrome - - - Preferential parent - - - - - - 99989 - Intermediate DEND syndrome - - - Preferential parent - - - - - - 100067 - Waterhouse-Friderichsen syndrome - - - Preferential parent - - - - - - 101049 - Familial hypocalciuric hypercalcemia type 2 - - - Preferential parent - - - - - - 101050 - Familial hypocalciuric hypercalcemia type 3 - - - Preferential parent - - - - - - 101952 - Rare diabetes mellitus - - - Preferential parent - - - - - - 101953 - Rare dyslipidemia - - - Preferential parent - - - - - - 101954 - Rare adrenal disease - - - Preferential parent - - - - - - 101955 - Rare thyroid disease - - - Preferential parent - - - - - - 101956 - Polyendocrinopathy - - - Preferential parent - - - - - - 101957 - Pituitary deficiency - - - Preferential parent - - - - - - 101958 - Primary adrenal insufficiency - - - Preferential parent - - - - - - 101959 - Chronic primary adrenal insufficiency - - - Preferential parent - - - - - - 101960 - Genetic chronic primary adrenal insufficiency - - - Preferential parent - - - - - - 101963 - Acquired chronic primary adrenal insufficiency - - - Preferential parent - - - - - - 140286 - Secondary hypoparathyroidism due to impaired parathormon secretion - - - Preferential parent - - - - - - 140905 - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - - Preferential parent - - - - - - 140941 - Short stature due to primary acid-labile subunit deficiency - - - Preferential parent - - - - - - 156638 - Rare genetic endocrine disease - - - Preferential parent - - - - - - 156643 - Genetic endocrine growth disease - - - Preferential parent - - - - - - 165985 - Diazoxide-sensitive diffuse hyperinsulinism - - - Preferential parent - - - - - - 165988 - Diazoxide-resistant diffuse hyperinsulinism - - - Preferential parent - - - - - - 168588 - Hyperandrogenism due to cortisone reductase deficiency - - - Preferential parent - - - - - - 171706 - Short stature-delayed bone age due to thyroid hormone metabolism deficiency - - - Preferential parent - - - - - - 174590 - Congenital hypogonadotropic hypogonadism - - - Preferential parent - - - - - - 177101 - Rare adult hypothyroidism - - - Preferential parent - - - - - - 177107 - Syndromic hypothyroidism - - - Preferential parent - - - - - - 178025 - Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations - - - Preferential parent - - - - - - 178029 - Arginine vasopressin deficiency - - - Preferential parent - - - - - - 178040 - Rare peripheral precocious puberty - - - Preferential parent - - - - - - 178045 - Transient congenital hypothyroidism - - - Preferential parent - - - - - - 178345 - Aromatase excess syndrome - - - Preferential parent - - - - - - 179490 - Obesity due to congenital leptin resistance - - - Preferential parent - - - - - - 179494 - Obesity due to leptin receptor gene deficiency - - - Preferential parent - - - - - - 181368 - Rare insulin-resistance syndrome - - - Preferential parent - - - - - - 181371 - Rare diabetes mellitus type 1 - - - Preferential parent - - - - - - 181376 - Rare diabetes mellitus type 2 - - - Preferential parent - - - - - - 181381 - Other rare diabetes mellitus - - - Preferential parent - - - - - - 181384 - Rare hypothalamic or pituitary disease - - - Preferential parent - - - - - - 181387 - Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism - - - Preferential parent - - - - - - 181390 - Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature - - - Preferential parent - - - - - - 181393 - Growth hormone insensitivity syndrome - - - Preferential parent - - - - - - 181396 - Rare hypothyroidism - - - Preferential parent - - - - - - 181399 - Rare hyperthyroidism - - - Preferential parent - - - - - - 181402 - Syndrome with hypoparathyroidism - - - Preferential parent - - - - - - 181405 - Rare hypoparathyroidism - - - Preferential parent - - - - - - 181408 - Rare hyperparathyroidism - - - Preferential parent - - - - - - 181412 - Adrenogenital syndrome - - - Preferential parent - - - - - - 181415 - Rare primary hyperaldosteronism - - - Preferential parent - - - - - - 181419 - Rare hypoaldosteronism - - - Preferential parent - - - - - - 181422 - Rare hyperlipidemia - - - Preferential parent - - - - - - 181428 - Familial Hyperalphalipoproteinemia - - - Preferential parent - - - - - - 181431 - Rare hypolipidemia - - - Preferential parent - - - - - - 181437 - Rare syndromic dyslipidemia - - - Preferential parent - - - - - - 181441 - Rare disorder with hypergonadotropic hypogonadism - - - Preferential parent - - - - - - 183625 - Rare genetic diabetes mellitus - - - Preferential parent - - - - - - 183628 - Rare genetic hypothalamic or pituitary disease - - - Preferential parent - - - - - - 183631 - Rare genetic thyroid disease - - - Preferential parent - - - - - - 183634 - Rare genetic parathyroid disease and phosphocalcic metabolism disorder - - - Preferential parent - - - - - - 183637 - Rare genetic adrenal disease - - - Preferential parent - - - - - - 183643 - Genetic polyendocrinopathy - - - Preferential parent - - - - - - 189427 - Cushing syndrome due to bilateral macronodular adrenocortical disease - - - Preferential parent - - - - - - 189466 - Familial isolated hypoparathyroidism due to impaired PTH secretion - - - Preferential parent - - - - - - 199244 - Nelson syndrome - - - Preferential parent - - - - - - 199247 - Corticosteroid-binding globulin deficiency - - - Preferential parent - - - - - - 199296 - Congenital isolated ACTH deficiency - - - Preferential parent - - - - - - 199299 - Late-onset isolated ACTH deficiency - - - Preferential parent - - - - - - 208593 - Genetic hypoparathyroidism - - - Preferential parent - - - - - - 208596 - Genetic hyperparathyroidism - - - Preferential parent - - - - - - 209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - - Preferential parent - - - - - - 220465 - Laron syndrome with immunodeficiency - - - Preferential parent - - - - - - 226292 - Permanent congenital hypothyroidism - - - Preferential parent - - - - - - 226295 - Primary congenital hypothyroidism - - - Preferential parent - - - - - - 226298 - Central congenital hypothyroidism - - - Preferential parent - - - - - - 226307 - Hypothyroidism due to deficient transcription factors involved in pituitary development or function - - - Preferential parent - - - - - - 226313 - Congenital hypothyroidism due to maternal intake of antithyroid drugs - - - Preferential parent - - - - - - 226316 - Genetic transient congenital hypothyroidism - - - Preferential parent - - - - - - 227982 - Autoimmune polyendocrinopathy type 3 - - - Preferential parent - - - - - - 227990 - Autoimmune polyendocrinopathy type 4 - - - Preferential parent - - - - - - 228429 - Congenital generalized lipodystrophy type 4 - - - Preferential parent - - - - - - 231580 - Primary unilateral adrenal hyperplasia - - - Preferential parent - - - - - - 231625 - Adrenocortical carcinoma with pure aldosterone hypersecretion - - - Preferential parent - - - - - - 231632 - Ectopic aldosterone-producing tumor - - - Preferential parent - - - - - - 231637 - Rare surgically correctable form of primary aldosteronism - - - Preferential parent - - - - - - 231641 - Rare non surgically correctable form of primary aldosteronism - - - Preferential parent - - - - - - 231662 - Isolated growth hormone deficiency type IA - - - Preferential parent - - - - - - 231671 - Isolated growth hormone deficiency type IB - - - Preferential parent - - - - - - 231679 - Isolated growth hormone deficiency type II - - - Preferential parent - - - - - - 231692 - Isolated growth hormone deficiency type III - - - Preferential parent - - - - - - 231720 - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - - Preferential parent - - - - - - 235936 - Familial hyperaldosteronism - - - Preferential parent - - - - - - 238305 - Infundibulo-neurohypophysitis - - - Preferential parent - - - - - - 238666 - Isolated congenital hypogonadotropic hypogonadism - - - Preferential parent - - - - - - 238670 - Isolated thyrotropin-releasing hormone deficiency - - - Preferential parent - - - - - - 238688 - Neonatal iodine exposure - - - Preferential parent - - - - - - 238696 - Transient congenital hypothyroidism due to maternal factor - - - Preferential parent - - - - - - 238699 - Transient congenital hypothyroidism due to neonatal factor - - - Preferential parent - - - - - - 240371 - Syndromic obesity - - - Preferential parent - - - - - - 251274 - Familial hyperaldosteronism type III - - - Preferential parent - - - - - - 263458 - Hyperinsulinism due to INSR deficiency - - - Preferential parent - - - - - - 276399 - Familial multinodular goiter - - - Preferential parent - - - - - - 276525 - Familial hyperinsulinism - - - Preferential parent - - - - - - 276585 - Diazoxide-resistant hyperinsulinism - - - Preferential parent - - - - - - 276598 - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - - Preferential parent - - - - - - 276603 - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - - Preferential parent - - - - - - 276608 - Non-insulinoma pancreatogenous hypoglycemia syndrome - - - Preferential parent - - - - - - 276621 - Sporadic pheochromocytoma/secreting paraganglioma - - - Preferential parent - - - - - - 280356 - PLIN1-related familial partial lipodystrophy - - - Preferential parent - - - - - - 280365 - Autosomal semi-dominant severe lipodystrophic laminopathy - - - Preferential parent - - - - - - 282196 - Autoimmune polyendocrinopathy - - - Preferential parent - - - - - - 289548 - Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency - - - Preferential parent - - - - - - 293964 - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - - Preferential parent - - - - - - 293978 - Deficiency in anterior pituitary function-variable immunodeficiency syndrome - - - Preferential parent - - - - - - 293987 - Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome - - - Preferential parent - - - - - - 300373 - X-linked acrogigantism - - - Preferential parent - - - - - - 300547 - Autosomal recessive infantile hypercalcemia - - - Preferential parent - - - - - - 300763 - Laminopathy with lipodystrophy - - - Preferential parent - - - - - - 306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - - Preferential parent - - - - - - 309015 - Familial lipoprotein lipase deficiency - - - Preferential parent - - - - - - 309020 - Familial apolipoprotein C-II deficiency - - - Preferential parent - - - - - - 314749 - Rare disease with adrenal Cushing syndrome as a major feature - - - Preferential parent - - - - - - 314753 - Functioning pituitary adenoma - - - Preferential parent - - - - - - 314759 - Mixed functioning pituitary adenoma - - - Preferential parent - - - - - - 314769 - Somatomammotropinoma - - - Preferential parent - - - - - - 314777 - Familial isolated pituitary adenoma - - - Preferential parent - - - - - - 314786 - Silent pituitary adenoma - - - Preferential parent - - - - - - 314790 - Null pituitary adenoma - - - Preferential parent - - - - - - 314802 - Short stature due to partial GHR deficiency - - - Preferential parent - - - - - - 314811 - Short stature due to GHSR deficiency - - - Preferential parent - - - - - - 319205 - Bilateral massive adrenal hemorrhage - - - Preferential parent - - - - - - 324299 - Multiple paragangliomas associated with polycythemia - - - Preferential parent - - - - - - 329235 - X-linked central congenital hypothyroidism with late-onset testicular enlargement - - - Preferential parent - - - - - - 329249 - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - - - Preferential parent - - - - - - 369873 - Obesity due to SIM1 deficiency - - - Preferential parent - - - - - - 371861 - Genetic hyperaldosteronism - - - Preferential parent - - - - - - 391665 - Homozygous familial hypercholesterolemia - - - Preferential parent - - - - - - 397615 - Obesity due to CEP19 deficiency - - - Preferential parent - - - - - - 397685 - Familial hyperprolactinemia - - - Preferential parent - - - - - - 399572 - Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder - - - Preferential parent - - - - - - 399584 - Rare male infertility due to adrenal disorder - - - Preferential parent - - - - - - 399685 - Rare male infertility due to testicular endocrine disorder - - - Preferential parent - - - - - - 399831 - Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder - - - Preferential parent - - - - - - 399839 - Rare female infertility due to a congenital hypogonadotropic hypogonadism - - - Preferential parent - - - - - - 399846 - Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism - - - Preferential parent - - - - - - 399849 - Rare female infertility due to an adrenal disorder - - - Preferential parent - - - - - - 399853 - Rare female infertility due to an anomaly of ovarian function - - - Preferential parent - - - - - - 399983 - Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - - - Preferential parent - - - - - - 399994 - Rare male infertility due to adrenal disorder of genetic origin - - - Preferential parent - - - - - - 400011 - Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin - - - Preferential parent - - - - - - 400018 - Rare female infertility due to adrenal disorder of genetic origin - - - Preferential parent - - - - - - 400022 - Rare female infertility due to an anomaly of ovarian function of genetic origin - - - Preferential parent - - - - - - 411593 - Insulin autoimmune syndrome - - - Preferential parent - - - - - - 435554 - Genetic precocious puberty - - - Preferential parent - - - - - - 435561 - Rare precocious puberty in female - - - Preferential parent - - - - - - 435564 - Genetic precocious puberty in female - - - Preferential parent - - - - - - 435628 - Keppen-Lubinsky syndrome - - - Preferential parent - - - - - - 435651 - CIDEC-related familial partial lipodystrophy - - - Preferential parent - - - - - - 435660 - LIPE-related familial partial lipodystrophy - - - Preferential parent - - - - - - 436144 - Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome - - - Preferential parent - - - - - - 436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - - Preferential parent - - - - - - 436182 - Microcephalic primordial dwarfism-insulin resistance syndrome - - - Preferential parent - - - - - - 443095 - Hyperinsulinemic hypoglycaemia - - - Preferential parent - - - - - - 443101 - Hypothalamic adipsic hypernatraemia syndrome - - - Preferential parent - - - - - - 444490 - Familial chylomicronemia syndrome - - - Preferential parent - - - - - - 444916 - Pseudohypoaldosteronism - - - Preferential parent - - - - - - 445062 - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - - Preferential parent - - - - - - 453533 - Polyendocrine-polyneuropathy syndrome - - - Preferential parent - - - - - - 457062 - Pseudohypoparathyroidism without Albright hereditary osteodystrophy - - - Preferential parent - - - - - - 477811 - Rare hypercholesterolemia - - - Preferential parent - - - - - - 485382 - Rare genetic premature ovarian failure - - - Preferential parent - - - - - - 494433 - MIRAGE syndrome - - - Preferential parent - - - - - - 519298 - Rare scleral disorder - - - Preferential parent - - - - - - 525731 - Pediatric-onset Graves disease - - - Preferential parent - - - - - - 530849 - Familial apolipoprotein A5 deficiency - - - Preferential parent - - - - - - 535453 - Familial lipase maturation factor 1 deficiency - - - Preferential parent - - - - - - 535458 - Familial GPIHBP1 deficiency - - - Preferential parent - - - - - - 544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - - Preferential parent - - - - - - 556030 - Early-onset familial hypoaldosteronism - - - Preferential parent - - - - - - 556037 - Late-onset familial hypoaldosteronism - - - Preferential parent - - - - - - 566231 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha - - - Preferential parent - - - - - - 566243 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta - - - Preferential parent - - - - - - 573163 - Pheochromocytoma-paraganglioma - - - Preferential parent - - - - - - 595337 - Adrenal hypoplasia congenita - - - Preferential parent - - - - - - 596426 - Syndrome of reduced sensitivity to thyroid hormone - - - Preferential parent - - - - - - 597939 - Euthyroid dysprealbuminemic hyperthyroxinemia - - - Preferential parent - - - - - - 641350 - Immunotherapy induced hypophysitis - - - Preferential parent - - - - - - 641613 - Endogenous Cushing syndrome - - - Preferential parent - - - - - - 642671 - Familial hyperaldosteronism type IV - - - Preferential parent - - - - - - 642691 - Fragile X-associated primary ovarian insufficiency - - - Preferential parent - - - - - - 642788 - Cushing syndrome due to cortisol-producing adrenocortical adenoma - - - Preferential parent - - - - - - 647758 - Adrenal Cushing syndrome - - - Preferential parent - - - - - - 647768 - Rare adrenocortical nodular disease with Cushing syndrome as a major feature - - - Preferential parent - - - - - - 647772 - Isolated primary pigmented nodular adrenocortical disease - - - Preferential parent - - - - - - 647782 - Isolated micronodular adrenocortical disease - - - Preferential parent - - - - - - 649017 - Rare adrenocortical nodular disease - - - Preferential parent - - - - - - 649929 - Central precocious puberty in male - - - Preferential parent - - - - - - 650063 - Rare central precocious puberty - - - Preferential parent - - - - - - 650070 - Rare central precocious puberty in female - - - Preferential parent - - - - - - 650077 - Genetic central precocious puberty in female - - - Preferential parent - - - - - - 650082 - Secondary central precocious puberty in female - - - Preferential parent - - - - - - 650087 - Primary central precocious puberty in male - - - Preferential parent - - - - - - 650092 - Secondary central precocious puberty in male - - - Preferential parent - - - - - - 650097 - Genetic central precocious puberty in male - - - Preferential parent - - - - - - 650102 - Non-genetic central precocious puberty in male - - - Preferential parent - - - - - - 650182 - Genetic central precocious puberty - - - Preferential parent - - - - - - 650187 - Rare peripheral precocious puberty in female - - - Preferential parent - - - - - - 684247 - Isolated growth hormone deficiency type IV - - - Preferential parent - - - - - - 688649 - Isolated adrenal medullary hyperplasia - - - Preferential parent - - - - - - 689401 - Acquired hypothalamic obesity - - - Preferential parent - - - - - - 696189 - Congenital generalized lipodystrophy type 1 - - - Preferential parent - - - - - - 696206 - Congenital generalized lipodystrophy type 3 - - - Preferential parent - - - - - - 696242 - PPARG-associated congenital generalized lipodystrophy - - - Preferential parent - - - - - - 696289 - Congenital generalized lipodystrophy type 2 - - - Preferential parent - - - - - - 98004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98004 - Rare immune disease - - - - - 47 - X-linked agammaglobulinemia - - - Preferential parent - - - - - - 906 - Wiskott-Aldrich syndrome - - - Preferential parent - - - - - - 276 - T-B+ severe combined immunodeficiency due to gamma chain deficiency - - - Preferential parent - - - - - - 379 - Chronic granulomatous disease - - - Preferential parent - - - - - - 167 - Chédiak-Higashi syndrome - - - Preferential parent - - - - - - 2442 - X-linked lymphoproliferative disease - - - Preferential parent - - - - - - 540 - Familial hemophagocytic lymphohistiocytosis - - - Preferential parent - - - - - - 1334 - Chronic mucocutaneous candidiasis - - - Preferential parent - - - - - - 1775 - Dyskeratosis congenita - - - Preferential parent - - - - - - 760 - Purine nucleoside phosphorylase deficiency - - - Preferential parent - - - - - - 486 - Autosomal dominant severe congenital neutropenia - - - Preferential parent - - - - - - 2314 - Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency - - - Preferential parent - - - - - - 2587 - Myeloperoxidase deficiency - - - Preferential parent - - - - - - 275 - Severe combined immunodeficiency due to DCLRE1C deficiency - - - Preferential parent - - - - - - 2268 - ICF syndrome - - - Preferential parent - - - - - - 935 - Short-limb skeletal dysplasia with severe combined immunodeficiency - - - Preferential parent - - - - - - 2390 - Lichtenstein syndrome - - - Preferential parent - - - - - - 2690 - Neutropenia-monocytopenia-deafness syndrome - - - Preferential parent - - - - - - 343 - Hyperimmunoglobulinemia D with periodic fever - - - Preferential parent - - - - - - 572 - Immunodeficiency by defective expression of MHC class II - - - Preferential parent - - - - - - 911 - Combined immunodeficiency due to ZAP70 deficiency - - - Preferential parent - - - - - - 3261 - Autoimmune lymphoproliferative syndrome - - - Preferential parent - - - - - - 2968 - Leukocyte adhesion deficiency - - - Preferential parent - - - - - - 2966 - Properdin deficiency - - - Preferential parent - - - - - - 2686 - Cyclic neutropenia - - - Preferential parent - - - - - - 2688 - Adult idiopathic neutropenia - - - Preferential parent - - - - - - 277 - Severe combined immunodeficiency due to adenosine deaminase deficiency - - - Preferential parent - - - - - - 748 - Mendelian susceptibility to mycobacterial diseases - - - Preferential parent - - - - - - 33110 - Autosomal non-syndromic agammaglobulinemia - - - Preferential parent - - - - - - 33355 - Reticular dysgenesis - - - Preferential parent - - - - - - 34592 - Immunodeficiency by defective expression of MHC class I - - - Preferential parent - - - - - - 35078 - T-B+ severe combined immunodeficiency due to JAK3 deficiency - - - Preferential parent - - - - - - 37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - - Preferential parent - - - - - - 39041 - Omenn syndrome - - - Preferential parent - - - - - - 39812 - Graft versus host disease - - - Preferential parent - - - - - - 42642 - PFAPA syndrome - - - Preferential parent - - - - - - 42738 - Severe congenital neutropenia - - - Preferential parent - - - - - - 51636 - WHIM syndrome - - - Preferential parent - - - - - - 70592 - Transient predisposition to invasive pyogenic bacterial infection - - - Preferential parent - - - - - - 70593 - Immunodeficiency due to selective anti-polysaccharide antibody deficiency - - - Preferential parent - - - - - - 75391 - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency - - - Preferential parent - - - - - - 79124 - Hepatic veno-occlusive disease-immunodeficiency syndrome - - - Preferential parent - - - - - - 79430 - Hermansky-Pudlak syndrome - - - Preferential parent - - - - - - 83471 - T-cell immunodeficiency with thymic aplasia - - - Preferential parent - - - - - - 86788 - X-linked severe congenital neutropenia - - - Preferential parent - - - - - - 90023 - Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency - - - Preferential parent - - - - - - 90081 - AIDS wasting syndrome - - - Preferential parent - - - - - - 98290 - Immunodeficiency-associated lymphoproliferative disease - - - Preferential parent - - - - - - 99749 - Kostmann syndrome - - - Preferential parent - - - - - - 99812 - LIG4 syndrome - - - Preferential parent - - - - - - 99842 - Leukocyte adhesion deficiency type I - - - Preferential parent - - - - - - 99843 - Leukocyte adhesion deficiency type II - - - Preferential parent - - - - - - 99844 - Leukocyte adhesion deficiency type III - - - Preferential parent - - - - - - 99898 - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency - - - Preferential parent - - - - - - 99920 - Acute graft versus host disease - - - Preferential parent - - - - - - 99921 - Chronic graft versus host disease - - - Preferential parent - - - - - - 101088 - X-linked hyper-IgM syndrome - - - Preferential parent - - - - - - 101089 - Hyper-IgM syndrome type 2 - - - Preferential parent - - - - - - 101090 - Hyper-IgM syndrome type 3 - - - Preferential parent - - - - - - 101091 - Hyper-IgM syndrome type 4 - - - Preferential parent - - - - - - 101092 - Hyper-IgM syndrome type 5 - - - Preferential parent - - - - - - 101972 - Combined T and B cell immunodeficiency - - - Preferential parent - - - - - - 101977 - Immunodeficiency predominantly affecting antibody production - - - Preferential parent - - - - - - 101985 - Quantitative and/or qualitative congenital phagocyte defect - - - Preferential parent - - - - - - 101987 - Congenital neutropenia - - - Preferential parent - - - - - - 101988 - Primary immunodeficiency due to a defect in innate immunity - - - Preferential parent - - - - - - 101992 - Immunodeficiency due to a complement cascade protein anomaly - - - Preferential parent - - - - - - 101997 - Primary immunodeficiency - - - Preferential parent - - - - - - 157949 - Combined immunodeficiency with granulomatosis - - - Preferential parent - - - - - - 158032 - Hemophagocytic syndrome - - - Preferential parent - - - - - - 158038 - Primary hemophagocytic lymphohistiocytosis - - - Preferential parent - - - - - - 158041 - Secondary hemophagocytic lymphohistiocytosis - - - Preferential parent - - - - - - 158048 - Hemophagocytic syndrome associated with an infection - - - Preferential parent - - - - - - 158057 - Acquired hemophagocytic lymphohistiocytosis associated with malignant disease - - - Preferential parent - - - - - - 169079 - Cernunnos-XLF deficiency - - - Preferential parent - - - - - - 169082 - Combined immunodeficiency due to CD3gamma deficiency - - - Preferential parent - - - - - - 169085 - Susceptibility to respiratory infections associated with CD8alpha chain mutation - - - Preferential parent - - - - - - 169090 - Combined immunodeficiency due to CRAC channel dysfunction - - - Preferential parent - - - - - - 169095 - Severe combined immunodeficiency due to FOXN1 deficiency - - - Preferential parent - - - - - - 169100 - Immunodeficiency due to CD25 deficiency - - - Preferential parent - - - - - - 169105 - Good syndrome - - - Preferential parent - - - - - - 169110 - Immunoglobulin heavy chain deficiency - - - Preferential parent - - - - - - 169139 - Transient hypogammaglobulinemia of infancy - - - Preferential parent - - - - - - 169142 - Recurrent infections due to specific granule deficiency - - - Preferential parent - - - - - - 169147 - Immunodeficiency due to a classical component pathway complement deficiency - - - Preferential parent - - - - - - 169150 - Immunodeficiency due to a late component of complement deficiency - - - Preferential parent - - - - - - 169154 - T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency - - - Preferential parent - - - - - - 169157 - T-B+ severe combined immunodeficiency due to CD45 deficiency - - - Preferential parent - - - - - - 169160 - T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta - - - Preferential parent - - - - - - 169346 - DNA repair defect other than combined T-cell and B-cell immunodeficiencies - - - Preferential parent - - - - - - 169355 - Immunodeficiency syndrome with autoimmunity - - - Preferential parent - - - - - - 169361 - Immune dysregulation disease with immunodeficiency - - - Preferential parent - - - - - - 169443 - Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells - - - Preferential parent - - - - - - 169464 - Primary CD59 deficiency - - - Preferential parent - - - - - - 169467 - Recurrent Neisseria infections due to factor D deficiency - - - Preferential parent - - - - - - 178996 - Acquired neutropenia - - - Preferential parent - - - - - - 179006 - Primary immunodeficiency due to a defect in adaptive immunity - - - Preferential parent - - - - - - 183494 - Genetic immune deficiency with skin involvement - - - Preferential parent - - - - - - 183660 - Severe combined immunodeficiency - - - Preferential parent - - - - - - 183663 - Hyper-IgM syndrome with susceptibility to opportunistic infections - - - Preferential parent - - - - - - 183666 - Hyper-IgM syndrome without susceptibility to opportunistic infections - - - Preferential parent - - - - - - 183669 - Agammaglobulinemia - - - Preferential parent - - - - - - 183675 - Recurrent infections associated with rare immunoglobulin isotypes deficiency - - - Preferential parent - - - - - - 183678 - Hermansky-Pudlak syndrome due to AP-3 deficiency - - - Preferential parent - - - - - - 183681 - Congenital functional phagocyte defect - - - Preferential parent - - - - - - 183707 - Infantile LAD-like disease due to RAC2 deficiency - - - Preferential parent - - - - - - 183710 - Genetic susceptibility to infections due to particular pathogens - - - Preferential parent - - - - - - 183770 - Rare genetic immune disease - - - Preferential parent - - - - - - 200418 - Immunodeficiency with factor I anomaly - - - Preferential parent - - - - - - 200421 - Immunodeficiency with factor H anomaly - - - Preferential parent - - - - - - 217390 - Combined immunodeficiency due to DOCK8 deficiency - - - Preferential parent - - - - - - 228000 - Idiopathic CD4 lymphocytopenia - - - Preferential parent - - - - - - 228003 - Severe combined immunodeficiency due to CORO1A deficiency - - - Preferential parent - - - - - - 228423 - GATA2 deficiency spectrum - - - Preferential parent - - - - - - 229717 - Non-syndromic agammaglobulinemia - - - Preferential parent - - - - - - 229720 - Syndromic agammaglobulinemia - - - Preferential parent - - - - - - 231154 - Combined immunodeficiency due to partial RAG1 deficiency - - - Preferential parent - - - - - - 231205 - Common variable immunodeficiency without known genetic defect - - - Preferential parent - - - - - - 231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - - Preferential parent - - - - - - 231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - - Preferential parent - - - - - - 231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - - Preferential parent - - - - - - 238505 - Combined immunodeficiency due to CD27 deficiency - - - Preferential parent - - - - - - 268114 - RAS-associated autoimmune leukoproliferative disease - - - Preferential parent - - - - - - 275517 - Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency - - - Preferential parent - - - - - - 275523 - Dianzani autoimmune lymphoproliferative disease - - - Preferential parent - - - - - - 279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - - Preferential parent - - - - - - 279943 - Hereditary neutrophilia - - - Preferential parent - - - - - - 280133 - Complement component 3 deficiency - - - Preferential parent - - - - - - 280142 - Severe combined immunodeficiency due to LCK deficiency - - - Preferential parent - - - - - - 290839 - Autoinflammatory syndrome with immune deficiency - - - Preferential parent - - - - - - 306431 - Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies - - - Preferential parent - - - - - - 306550 - FADD-related immunodeficiency - - - Preferential parent - - - - - - 310050 - Acquired immunodeficiency - - - Preferential parent - - - - - - 314689 - Combined immunodeficiency due to STK4 deficiency - - - Preferential parent - - - - - - 317416 - T-B+ severe combined immunodeficiency - - - Preferential parent - - - - - - 317419 - T-B- severe combined immunodeficiency - - - Preferential parent - - - - - - 317425 - Severe combined immunodeficiency due to DNA-PKcs deficiency - - - Preferential parent - - - - - - 317428 - Combined immunodeficiency due to ORAI1 deficiency - - - Preferential parent - - - - - - 317430 - Combined immunodeficiency due to STIM1 deficiency - - - Preferential parent - - - - - - 317473 - Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency - - - Preferential parent - - - - - - 317476 - XMEN - - - Preferential parent - - - - - - 319535 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency - - - Preferential parent - - - - - - 319539 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - - Preferential parent - - - - - - 319543 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency - - - Preferential parent - - - - - - 319547 - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency - - - Preferential parent - - - - - - 319552 - Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency - - - Preferential parent - - - - - - 319558 - Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency - - - Preferential parent - - - - - - 319563 - Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency - - - Preferential parent - - - - - - 319569 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - - Preferential parent - - - - - - 319574 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - - Preferential parent - - - - - - 319581 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency - - - Preferential parent - - - - - - 319589 - Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency - - - Preferential parent - - - - - - 319595 - Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency - - - Preferential parent - - - - - - 319600 - Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency - - - Preferential parent - - - - - - 319605 - X-linked mendelian susceptibility to mycobacterial diseases - - - Preferential parent - - - - - - 324294 - T-cell immunodeficiency with epidermodysplasia verruciformis - - - Preferential parent - - - - - - 324530 - Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation - - - Preferential parent - - - - - - 324636 - Autoerythrocyte sensitization syndrome - - - Preferential parent - - - - - - 329173 - Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis - - - Preferential parent - - - - - - 331176 - Severe congenital neutropenia due to G6PC3 deficiency - - - Preferential parent - - - - - - 331184 - Syndrome with congenital neutropenia as a major feature - - - Preferential parent - - - - - - 331187 - Immunodeficiency due to MASP-2 deficiency - - - Preferential parent - - - - - - 331190 - Immunodeficiency due to ficolin3 deficiency - - - Preferential parent - - - - - - 331193 - Other immunodeficiency syndromes due to defects in innate immunity - - - Preferential parent - - - - - - 331206 - Severe combined immunodeficiency due to complete RAG1/2 deficiency - - - Preferential parent - - - - - - 331217 - Syndrome with combined immunodeficiency - - - Preferential parent - - - - - - 331220 - Syndome with combined immunodeficiency due to thymic defect - - - Preferential parent - - - - - - 331223 - Hyper-IgE syndrome - - - Preferential parent - - - - - - 331226 - Susceptibility to infection due to TYK2 deficiency - - - Preferential parent - - - - - - 331232 - Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells - - - Preferential parent - - - - - - 331235 - Selective IgM deficiency - - - Preferential parent - - - - - - 331240 - Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells - - - Preferential parent - - - - - - 331244 - Other immunodeficiency syndrome with predominantly antibody defects - - - Preferential parent - - - - - - 331249 - Primary hemophagocytic lymphohistiocytosis with hypopigmentation - - - Preferential parent - - - - - - 357237 - Combined immunodeficiency due to CARD11 deficiency - - - Preferential parent - - - - - - 357329 - Combined immunodeficiency due to IL21R deficiency - - - Preferential parent - - - - - - 369852 - Congenital neutropenia-myelofibrosis-nephromegaly syndrome - - - Preferential parent - - - - - - 369861 - Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - - - Preferential parent - - - - - - 391311 - Susceptibility to viral and mycobacterial infections due to STAT1 deficiency - - - Preferential parent - - - - - - 391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - - Preferential parent - - - - - - 391655 - Off-periods in Parkinson disease not responding to oral treatment - - - Preferential parent - - - - - - 397596 - Activated PI3K-delta syndrome - - - Preferential parent - - - - - - 397787 - Combined immunodeficiency due to IKBKB deficiency - - - Preferential parent - - - - - - 397802 - T+ B+ severe combined immunodeficiency - - - Preferential parent - - - - - - 397959 - TCR-alpha-beta-positive T-cell deficiency - - - Preferential parent - - - - - - 397964 - Combined immunodeficiency due to MALT1 deficiency - - - Preferential parent - - - - - - 420573 - Severe combined immunodeficiency due to CTPS1 deficiency - - - Preferential parent - - - - - - 420699 - Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency - - - Preferential parent - - - - - - 420702 - Autosomal recessive severe congenital neutropenia due to CSF3R deficiency - - - Preferential parent - - - - - - 420741 - RIDDLE syndrome - - - Preferential parent - - - - - - 423384 - Severe congenital neutropenia due to JAGN1 deficiency - - - Preferential parent - - - - - - 431149 - Combined immunodeficiency due to OX40 deficiency - - - Preferential parent - - - - - - 431156 - Primary immunodeficiency with predisposition to severe viral infection - - - Preferential parent - - - - - - 431166 - Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection - - - Preferential parent - - - - - - 436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - - Preferential parent - - - - - - 437552 - Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity - - - Preferential parent - - - - - - 438159 - STAT3-related early-onset multisystem autoimmune disease - - - Preferential parent - - - - - - 439849 - Autosomal recessive severe congenital neutropenia - - - Preferential parent - - - - - - 445018 - Combined immunodeficiency due to LRBA deficiency - - - Preferential parent - - - - - - 447731 - NIK deficiency - - - Preferential parent - - - - - - 447737 - Combined immunodeficiency due to DOCK2 deficiency - - - Preferential parent - - - - - - 447740 - Aggressive periodontitis - - - Preferential parent - - - - - - 457088 - Predisposition to invasive fungal disease due to CARD9 deficiency - - - Preferential parent - - - - - - 459345 - Immunodeficiency due to a complement cascade component deficiency - - - Preferential parent - - - - - - 459348 - Immunodeficiency due to a complement regulatory deficiency - - - Preferential parent - - - - - - 464336 - BENTA disease - - - Preferential parent - - - - - - 464370 - Neonatal alloimmune neutropenia - - - Preferential parent - - - - - - 476113 - Combined immunodeficiency due to TFRC deficiency - - - Preferential parent - - - - - - 477857 - Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency - - - Preferential parent - - - - - - 480549 - Non-severe combined immunodeficiency - - - Preferential parent - - - - - - 504523 - Severe combined immunodeficiency due to LAT deficiency - - - Preferential parent - - - - - - 504530 - Combined immunodeficiency due to Moesin deficiency - - - Preferential parent - - - - - - 505227 - Combined immunodeficiency due to GINS1 deficiency - - - Preferential parent - - - - - - 529974 - Immune dysregulation with inflammatory bowel disease - - - Preferential parent - - - - - - 538931 - X-linked lymphoproliferative disease due to SAP deficiency - - - Preferential parent - - - - - - 538934 - X-linked lymphoproliferative disease due to XIAP deficiency - - - Preferential parent - - - - - - 538958 - Combined immunodeficiency due to CD70 deficiency - - - Preferential parent - - - - - - 538963 - Combined immunodeficiency due to ITK deficiency - - - Preferential parent - - - - - - 542301 - Combined immunodeficiency due to CARMIL2 deficiency - - - Preferential parent - - - - - - 574918 - Predisposition to severe viral infection due to IRF7 deficiency - - - Preferential parent - - - - - - 574957 - Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency - - - Preferential parent - - - - - - 596759 - Combined immunodeficiency due to RELA haploinsufficiency - - - Preferential parent - - - - - - 619941 - Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency - - - Preferential parent - - - - - - 619948 - Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency - - - Preferential parent - - - - - - 619953 - Familial hyperinflammatory lymphoproliferative immunodeficiency - - - Preferential parent - - - - - - 619972 - CADINS disease - - - Preferential parent - - - - - - 619979 - Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome - - - Preferential parent - - - - - - 641368 - Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency - - - Preferential parent - - - - - - 647804 - Combined immunodeficiency due to FCHO1 deficiency - - - Preferential parent - - - - - - 653751 - X-linked combined immunodeficiency due to SASH3 deficiency - - - Preferential parent - - - - - - 656300 - Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency - - - Preferential parent - - - - - - 656313 - Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency - - - Preferential parent - - - - - - 656326 - Autosomal recessive combined immunodeficiency due to IL6R deficiency - - - Preferential parent - - - - - - 656912 - Autosomal dominant combined immunodeficiency due to ERBIN deficiency - - - Preferential parent - - - - - - 658946 - Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency - - - Preferential parent - - - - - - 658951 - Early-onset immune dysregulation due to DOCK11 complete deficiency - - - Preferential parent - - - - - - 664456 - Immune dysregulation disease with immunodeficiency associated with EBV susceptibility - - - Preferential parent - - - - - - 664482 - Primary hemophagocytic lymphohistiocytosis without hypopigmentation - - - Preferential parent - - - - - - 664500 - Hermansky-Pudlak syndrome due to AP3B1 deficiency - - - Preferential parent - - - - - - 664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - - Preferential parent - - - - - - 664699 - EBV-induced lymphoproliferative disease due to RASGRP1 deficiency - - - Preferential parent - - - - - - 664711 - EBV-induced lymphoproliferative disease due to PRKCD deficiency - - - Preferential parent - - - - - - 664726 - EBV-induced lymphoproliferative disease due to CD137 deficiency - - - Preferential parent - - - - - - 664729 - EBV-induced lymphoproliferative disease due to TET2 deficiency - - - Preferential parent - - - - - - 664734 - EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature - - - Preferential parent - - - - - - 674648 - Syndrome with congenital phagocyte functional defect as a major feature - - - Preferential parent - - - - - - 674896 - Non-syndromic congenital phagocyte functional defect - - - Preferential parent - - - - - - 675628 - TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome - - - Preferential parent - - - - - - 675767 - Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency - - - Preferential parent - - - - - - 676039 - Combined immunodeficiency due to FOXN1 haploinsufficiency - - - Preferential parent - - - - - - 676125 - X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency - - - Preferential parent - - - - - - 688543 - Reticular dysgenesis-like severe combined immunodeficiency - - - Preferential parent - - - - - - 688563 - Combined immunodeficiency with normal Ig and poor specific antibody response - - - Preferential parent - - - - - - 688571 - Combined immunodeficiency with low immunoglobulins - - - Preferential parent - - - - - - 688594 - Combined immunodeficiency due to RELB deficiency - - - Preferential parent - - - - - - 692812 - RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome - - - Preferential parent - - - - - - 693627 - Agammaglobulinemia-skin involvement-failure to thrive syndrome - - - Preferential parent - - - - - - 693647 - Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome - - - Preferential parent - - - - - - 693661 - Activated PI3K-delta syndrome 1 - - - Preferential parent - - - - - - 693681 - Activated PI3K-delta syndrome 2 - - - Preferential parent - - - - - - 695164 - Combined immunodeficiency with low B cells - - - Preferential parent - - - - - - 695172 - Combined immunodeficiency due to dimerization defective IKAROS mutation - - - Preferential parent - - - - - - 695183 - Late-onset combined immunodeficiency due to ICOS deficiency - - - Preferential parent - - - - - - 695191 - Late-onset combined immunodeficiency due to ICOSL deficiency - - - Preferential parent - - - - - - 695807 - Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - - - Preferential parent - - - - - - 696851 - Common variable immunodeficiency and related disorders - - - Preferential parent - - - - - - 696857 - Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations - - - Preferential parent - - - - - - 696863 - Common variable immunodeficiency phenotype due to somatic mutations - - - Preferential parent - - - - - - 696870 - Common variable immunodeficiency phenotype due to germinal monogenic mutation - - - Preferential parent - - - - - - 696874 - NFKB1-related immune dysregulation - - - Preferential parent - - - - - - 696881 - Common variable immunodeficiency phenotype due to CD19/CD81 deficiency - - - Preferential parent - - - - - - 696894 - Common variable immunodeficiency phenotype due to CD21 deficiency - - - Preferential parent - - - - - - 696904 - Common variable immunodeficiency phenotype due to IRF2BP2 deficiency - - - Preferential parent - - - - - - 696907 - Common variable immunodeficiency phenotype due to homozygous TACI deficiency - - - Preferential parent - - - - - - 696925 - Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency - - - Preferential parent - - - - - - 696931 - Common variable immunodeficiency phenotype due to TWEAK deficiency - - - Preferential parent - - - - - - 696942 - Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency - - - Preferential parent - - - - - - 696945 - X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency - - - Preferential parent - - - - - - 697385 - Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency - - - Preferential parent - - - - - - 697389 - Combined immunodeficiency due to HELIOS deficiency - - - Preferential parent - - - - - - 697394 - Combined immunodeficiency due to c-REL deficiency - - - Preferential parent - - - - - - 697403 - Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency - - - Preferential parent - - - - - - 697414 - Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation - - - Preferential parent - - - - - - 697417 - Common variable immunodeficiency phenotype due to SEC61A1 deficiency - - - Preferential parent - - - - - - 699578 - Combined immunodeficiency with low Ig due to BCL10 deficiency - - - Preferential parent - - - - - - 699590 - Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency - - - Preferential parent - - - - - - 699593 - Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency - - - Preferential parent - - - - - - 699596 - Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency - - - Preferential parent - - - - - - 699599 - ICHAD syndrome - - - Preferential parent - - - - - - 699615 - Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency - - - Preferential parent - - - - - - 699618 - Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency - - - Preferential parent - - - - - - 700205 - Combined immunodeficiency due to IKBKB gain-of-function mutation - - - Preferential parent - - - - - - 97992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97992 - Rare hematologic disease - - - - - 447 - Paroxysmal nocturnal hemoglobinuria - - - Preferential parent - - - - - - 846 - Alpha-thalassemia - - - Preferential parent - - - - - - 848 - Beta-thalassemia - - - Preferential parent - - - - - - 232 - Sickle cell anemia - - - Preferential parent - - - - - - 124 - Diamond-Blackfan anemia - - - Preferential parent - - - - - - 3151 - Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome - - - Preferential parent - - - - - - 3204 - Stormorken-Sjaastad-Langslet syndrome - - - Preferential parent - - - - - - 448 - Hemophilia - - - Preferential parent - - - - - - 32 - Glutathione synthetase deficiency - - - Preferential parent - - - - - - 3002 - Immune thrombocytopenia - - - Preferential parent - - - - - - 1195 - Congenital atransferrinemia - - - Preferential parent - - - - - - 274 - Bernard-Soulier syndrome - - - Preferential parent - - - - - - 330 - Congenital factor XII deficiency - - - Preferential parent - - - - - - 1959 - Evans syndrome - - - Preferential parent - - - - - - 327 - Congenital factor VII deficiency - - - Preferential parent - - - - - - 326 - Congenital factor V deficiency - - - Preferential parent - - - - - - 1047 - Sideroblastic anemia - - - Preferential parent - - - - - - 859 - Transcobalamin deficiency - - - Preferential parent - - - - - - 3088 - Revesz syndrome - - - Preferential parent - - - - - - 3319 - Congenital amegakaryocytic thrombocytopenia - - - Preferential parent - - - - - - 822 - Hereditary spherocytosis - - - Preferential parent - - - - - - 766 - Hemolytic anemia due to red cell pyruvate kinase deficiency - - - Preferential parent - - - - - - 743 - Severe hereditary thrombophilia due to congenital protein S deficiency - - - Preferential parent - - - - - - 325 - Congenital factor II deficiency - - - Preferential parent - - - - - - 3324 - Familial thrombomodulin anomalies - - - Preferential parent - - - - - - 3325 - Classic heparin-induced thrombocytopenia - - - Preferential parent - - - - - - 621 - Hereditary methemoglobinemia - - - Preferential parent - - - - - - 712 - Hemolytic anemia due to glucophosphate isomerase deficiency - - - Preferential parent - - - - - - 714 - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - - Preferential parent - - - - - - 335 - Congenital fibrinogen deficiency - - - Preferential parent - - - - - - 79 - Congenital alpha2-antiplasmin deficiency - - - Preferential parent - - - - - - 331 - Congenital factor XIII deficiency - - - Preferential parent - - - - - - 332 - Congenital intrinsic factor deficiency - - - Preferential parent - - - - - - 851 - Paris-Trousseau thrombocytopenia - - - Preferential parent - - - - - - 849 - Glanzmann thrombasthenia - - - Preferential parent - - - - - - 745 - Severe hereditary thrombophilia due to congenital protein C deficiency - - - Preferential parent - - - - - - 2330 - Kasabach-Merritt phenomenon - - - Preferential parent - - - - - - 3260 - Idiopathic hypereosinophilic syndrome - - - Preferential parent - - - - - - 903 - Von Willebrand disease - - - Preferential parent - - - - - - 85 - Congenital dyserythropoietic anemia - - - Preferential parent - - - - - - 82 - Hereditary thrombophilia due to congenital antithrombin deficiency - - - Preferential parent - - - - - - 3318 - Essential thrombocythemia - - - Preferential parent - - - - - - 160 - Castleman disease - - - Preferential parent - - - - - - 328 - Congenital factor X deficiency - - - Preferential parent - - - - - - 2132 - Hemoglobin C disease - - - Preferential parent - - - - - - 2133 - Hemoglobin E disease - - - Preferential parent - - - - - - 288 - Hereditary elliptocytosis - - - Preferential parent - - - - - - 3203 - Overhydrated hereditary stomatocytosis - - - Preferential parent - - - - - - 3202 - Dehydrated hereditary stomatocytosis - - - Preferential parent - - - - - - 329 - Congenital factor XI deficiency - - - Preferential parent - - - - - - 811 - Shwachman-Diamond syndrome - - - Preferential parent - - - - - - 806 - Scott syndrome - - - Preferential parent - - - - - - 852 - X-linked thrombocytopenia with normal platelets - - - Preferential parent - - - - - - 465 - Congenital plasminogen activator inhibitor type 1 deficiency - - - Preferential parent - - - - - - 853 - Fetal and neonatal alloimmune thrombocytopenia - - - Preferential parent - - - - - - 483 - Congenital high-molecular-weight kininogen deficiency - - - Preferential parent - - - - - - 722 - Hypoplasminogenemia - - - Preferential parent - - - - - - 749 - Congenital prekallikrein deficiency - - - Preferential parent - - - - - - 734 - Alpha delta granule deficiency - - - Preferential parent - - - - - - 721 - Gray platelet syndrome - - - Preferential parent - - - - - - 729 - Polycythemia vera - - - Preferential parent - - - - - - 88 - Idiopathic aplastic anemia - - - Preferential parent - - - - - - 26348 - Acquired prothrombin deficiency - - - Preferential parent - - - - - - 26349 - Protein S acquired deficiency - - - Preferential parent - - - - - - 33574 - Glutamate-cysteine ligase deficiency - - - Preferential parent - - - - - - 35120 - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - - Preferential parent - - - - - - 35858 - Imerslund-Gräsbeck syndrome - - - Preferential parent - - - - - - 35909 - Combined deficiency of factor V and factor VIII - - - Preferential parent - - - - - - 36355 - Bleeding disorder due to P2Y12 defect - - - Preferential parent - - - - - - 68334 - Rare hemorrhagic disorder due to a constitutional coagulation factors defect - - - Preferential parent - - - - - - 68364 - Hemoglobinopathy - - - Preferential parent - - - - - - 68383 - Rare constitutional aplastic anemia - - - Preferential parent - - - - - - 46532 - Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - - - Preferential parent - - - - - - 49566 - Acquired purpura fulminans - - - Preferential parent - - - - - - 49827 - Thiamine-responsive megaloblastic anemia syndrome - - - Preferential parent - - - - - - 52530 - Pseudo-von Willebrand disease - - - Preferential parent - - - - - - 54028 - Plummer-Vinson syndrome - - - Preferential parent - - - - - - 54057 - Thrombotic thrombocytopenic purpura - - - Preferential parent - - - - - - 56425 - Cold agglutinin disease - - - Preferential parent - - - - - - 67044 - Thrombocytopenia with congenital dyserythropoietic anemia - - - Preferential parent - - - - - - 71202 - Rare hemorrhagic disorder due to a constitutional platelet anomaly - - - Preferential parent - - - - - - 71203 - Autoimmune thrombocytopenia - - - Preferential parent - - - - - - 71275 - Rh deficiency syndrome - - - Preferential parent - - - - - - 71290 - Familial platelet disorder with associated myeloid malignancy - - - Preferential parent - - - - - - 71493 - Familial thrombocytosis - - - Preferential parent - - - - - - 73271 - Bleeding diathesis due to a collagen receptor defect - - - Preferential parent - - - - - - 75563 - X-linked sideroblastic anemia - - - Preferential parent - - - - - - 75564 - Acquired idiopathic sideroblastic anemia - - - Preferential parent - - - - - - 83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - - Preferential parent - - - - - - 83642 - Microcytic anemia with liver iron overload - - - Preferential parent - - - - - - 86816 - Congenital analbuminemia - - - Preferential parent - - - - - - 86817 - Hemolytic anemia due to adenylate kinase deficiency - - - Preferential parent - - - - - - 90030 - Hemolytic anemia due to glutathione reductase deficiency - - - Preferential parent - - - - - - 90031 - Non-spherocytic hemolytic anemia due to hexokinase deficiency - - - Preferential parent - - - - - - 90033 - Autoimmune hemolytic anemia, warm type - - - Preferential parent - - - - - - 90035 - Paroxysmal cold hemoglobinuria - - - Preferential parent - - - - - - 90036 - Mixed-type autoimmune hemolytic anemia - - - Preferential parent - - - - - - 90037 - Drug-induced autoimmune hemolytic anemia - - - Preferential parent - - - - - - 90038 - Shiga toxin-associated hemolytic uremic syndrome - - - Preferential parent - - - - - - 90039 - Hemoglobin D disease - - - Preferential parent - - - - - - 90041 - Gaisböck syndrome - - - Preferential parent - - - - - - 90042 - Primary familial polycythemia - - - Preferential parent - - - - - - 90044 - Familial pseudohyperkalemia - - - Preferential parent - - - - - - 90045 - Hereditary folate malabsorption - - - Preferential parent - - - - - - 90076 - Partial deep dermal and full thickness burns - - - Preferential parent - - - - - - 91139 - Simple cryoglobulinemia - - - Preferential parent - - - - - - 93583 - Congenital thrombotic thrombocytopenic purpura - - - Preferential parent - - - - - - 93585 - Immune-mediated thrombotic thrombocytopenic purpura - - - Preferential parent - - - - - - 93616 - Hemoglobin H disease - - - Preferential parent - - - - - - 93685 - Unicentric Castleman disease - - - Preferential parent - - - - - - 94059 - Uremic pruritus - - - Preferential parent - - - - - - 98360 - Constitutional anemia due to iron metabolism disorder - - - Preferential parent - - - - - - 98362 - Constitutional sideroblastic anemia - - - Preferential parent - - - - - - 98363 - Rare hemolytic anemia - - - Preferential parent - - - - - - 98364 - Rare constitutional hemolytic anemia due to a red cell membrane anomaly - - - Preferential parent - - - - - - 98365 - Hereditary stomatocytosis - - - Preferential parent - - - - - - 98366 - Constitutional hemolytic anemia due to acanthocytosis - - - Preferential parent - - - - - - 98369 - Rare constitutional hemolytic anemia due to an enzyme disorder - - - Preferential parent - - - - - - 98370 - Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies - - - Preferential parent - - - - - - 98372 - Hemolytic anemia due to a disorder of glycolytic enzymes - - - Preferential parent - - - - - - 98374 - Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder - - - Preferential parent - - - - - - 98375 - Autoimmune hemolytic anemia - - - Preferential parent - - - - - - 98396 - Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder - - - Preferential parent - - - - - - 98408 - Constitutional megaloblastic anemia due to folate metabolism disorder - - - Preferential parent - - - - - - 98415 - Vitamin B12- and folate-independent constitutional megaloblastic anemia - - - Preferential parent - - - - - - 98421 - Primary acquired red cell aplasia - - - Preferential parent - - - - - - 98427 - Polycythemia - - - Preferential parent - - - - - - 98428 - Secondary polycythemia - - - Preferential parent - - - - - - 98429 - Rare coagulation disorder - - - Preferential parent - - - - - - 98434 - Hereditary combined deficiency of vitamin K-dependent clotting factors - - - Preferential parent - - - - - - 98455 - Alpha granule disease - - - Preferential parent - - - - - - 98456 - Dense granule disease - - - Preferential parent - - - - - - 98868 - Southeast Asian ovalocytosis - - - Preferential parent - - - - - - 98869 - Congenital dyserythropoietic anemia type I - - - Preferential parent - - - - - - 98870 - Congenital dyserythropoietic anemia type III - - - Preferential parent - - - - - - 98871 - Transient erythroblastopenia of childhood - - - Preferential parent - - - - - - 98872 - Primary acquired pure red cell aplasia - - - Preferential parent - - - - - - 98873 - Congenital dyserythropoietic anemia type II - - - Preferential parent - - - - - - 98878 - Hemophilia A - - - Preferential parent - - - - - - 98879 - Hemophilia B - - - Preferential parent - - - - - - 98880 - Familial afibrinogenemia - - - Preferential parent - - - - - - 98881 - Familial dysfibrinogenemia - - - Preferential parent - - - - - - 98885 - Bleeding diathesis due to glycoprotein VI deficiency - - - Preferential parent - - - - - - 98886 - Bleeding diathesis due to integrin alpha2-beta1 deficiency - - - Preferential parent - - - - - - 99135 - 6-phosphogluconate dehydrogenase deficiency - - - Preferential parent - - - - - - 99138 - Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - - - Preferential parent - - - - - - 99139 - Unstable hemoglobin disease - - - Preferential parent - - - - - - 99147 - Acquired von Willebrand syndrome - - - Preferential parent - - - - - - 101041 - Familial hypofibrinogenemia - - - Preferential parent - - - - - - 108997 - Rare anemia - - - Preferential parent - - - - - - 140957 - Autosomal dominant macrothrombocytopenia - - - Preferential parent - - - - - - 158300 - Rare genetic hematologic disease - - - Preferential parent - - - - - - 163596 - Hb Bart's hydrops fetalis - - - Preferential parent - - - - - - 164823 - Rare acquired aplastic anemia - - - Preferential parent - - - - - - 166078 - Von Willebrand disease type 1 - - - Preferential parent - - - - - - 166081 - Von Willebrand disease type 2 - - - Preferential parent - - - - - - 166084 - Von Willebrand disease type 2A - - - Preferential parent - - - - - - 166087 - Von Willebrand disease type 2B - - - Preferential parent - - - - - - 166090 - Von Willebrand disease type 2M - - - Preferential parent - - - - - - 166093 - Von Willebrand disease type 2N - - - Preferential parent - - - - - - 166096 - Von Willebrand disease type 3 - - - Preferential parent - - - - - - 166775 - Rare hemorrhagic disorder due to an acquired coagulation factor defect - - - Preferential parent - - - - - - 168577 - Hereditary cryohydrocytosis with reduced stomatin - - - Preferential parent - - - - - - 168629 - Autosomal thrombocytopenia with normal platelets - - - Preferential parent - - - - - - 168956 - Hypereosinophilic syndrome - - - Preferential parent - - - - - - 169793 - Severe hemophilia B - - - Preferential parent - - - - - - 169796 - Moderate hemophilia B - - - Preferential parent - - - - - - 169799 - Mild hemophilia B - - - Preferential parent - - - - - - 169802 - Severe hemophilia A - - - Preferential parent - - - - - - 169805 - Moderate hemophilia A - - - Preferential parent - - - - - - 169808 - Mild hemophilia A - - - Preferential parent - - - - - - 169826 - Congenital vitamin K-dependent coagulation factors deficiency - - - Preferential parent - - - - - - 177926 - Bleeding disorder in hemophilia A carriers - - - Preferential parent - - - - - - 177929 - Bleeding disorder in hemophilia B carriers - - - Preferential parent - - - - - - 178396 - Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - - - Preferential parent - - - - - - 182040 - Rare aplastic anemia - - - Preferential parent - - - - - - 182043 - Rare constitutional hemolytic anemia - - - Preferential parent - - - - - - 182047 - Rare acquired hemolytic anemia - - - Preferential parent - - - - - - 182050 - MYH9-related syndromic thrombocytopenia - - - Preferential parent - - - - - - 182054 - Rare thrombotic disease of hematologic origin - - - Preferential parent - - - - - - 183651 - Rare constitutional anemia - - - Preferential parent - - - - - - 183654 - Rare genetic coagulation disorder - - - Preferential parent - - - - - - 209016 - Hematological disease associated with an acquired peripheral neuropathy - - - Preferential parent - - - - - - 209981 - IRIDA syndrome - - - Preferential parent - - - - - - 217454 - Rare hereditary thrombophilia - - - Preferential parent - - - - - - 217467 - Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - - - Preferential parent - - - - - - 220436 - Quebec platelet disorder - - - Preferential parent - - - - - - 220443 - Bleeding diathesis due to thromboxane synthesis deficiency - - - Preferential parent - - - - - - 220448 - Macrothrombocytopenia with mitral valve insufficiency - - - Preferential parent - - - - - - 220452 - Isolated hereditary giant platelet disorder - - - Preferential parent - - - - - - 228312 - Autoimmune hemolytic anemia, cold type - - - Preferential parent - - - - - - 231214 - Beta-thalassemia major - - - Preferential parent - - - - - - 231222 - Beta-thalassemia intermedia - - - Preferential parent - - - - - - 231226 - Dominant beta-thalassemia - - - Preferential parent - - - - - - 231230 - Beta-thalassemia associated with another hemoglobin anomaly - - - Preferential parent - - - - - - 231237 - Delta-beta-thalassemia - - - Preferential parent - - - - - - 231242 - Hemoglobin C-beta-thalassemia syndrome - - - Preferential parent - - - - - - 231249 - Hemoglobin E-beta-thalassemia syndrome - - - Preferential parent - - - - - - 231386 - Beta-thalassemia with other manifestations - - - Preferential parent - - - - - - 231393 - Beta-thalassemia-X-linked thrombocytopenia syndrome - - - Preferential parent - - - - - - 231401 - Alpha-thalassemia-myelodysplastic syndrome - - - Preferential parent - - - - - - 232288 - Syndrome with alpha-thalassemia as a major feature - - - Preferential parent - - - - - - 238536 - Congenital secondary polycythemia - - - Preferential parent - - - - - - 238547 - Acquired secondary polycythemia - - - Preferential parent - - - - - - 238557 - Chuvash erythrocytosis - - - Preferential parent - - - - - - 244242 - HELLP syndrome - - - Preferential parent - - - - - - 247378 - Autosomal recessive secondary polycythemia not associated with VHL gene - - - Preferential parent - - - - - - 247511 - Autosomal dominant secondary polycythemia - - - Preferential parent - - - - - - 248293 - Rare deficiency anemia - - - Preferential parent - - - - - - 248296 - Constitutional deficiency anemia - - - Preferential parent - - - - - - 248302 - Rare acquired deficiency anemia - - - Preferential parent - - - - - - 248308 - Rare hemorrhagic disorder - - - Preferential parent - - - - - - 248315 - Rare hemorrhagic disorder due to a coagulation factors defect - - - Preferential parent - - - - - - 248326 - Rare hemorrhagic disorder due to a platelet anomaly - - - Preferential parent - - - - - - 248340 - Isolated delta-storage pool disease - - - Preferential parent - - - - - - 248347 - Rare hemorrhagic disorder due to an acquired platelet anomaly - - - Preferential parent - - - - - - 248358 - Rare thrombotic disorder due to a coagulation factors defect - - - Preferential parent - - - - - - 248361 - Rare thrombotic disorder due to a constitutional coagulation factors defect - - - Preferential parent - - - - - - 248365 - Rare thrombotic disorder due to an acquired coagulation factors defect - - - Preferential parent - - - - - - 248368 - Rare thrombotic disorder due to a platelet anomaly - - - Preferential parent - - - - - - 248401 - Rare thrombotic disorder due to a constitutional platelet anomaly - - - Preferential parent - - - - - - 248404 - Rare thrombotic disorder due to an acquired platelet anomaly - - - Preferential parent - - - - - - 248408 - Familial hypodysfibrinogenemia - - - Preferential parent - - - - - - 250165 - Genetic polycythemia - - - Preferential parent - - - - - - 251359 - Sickle cell-beta-thalassemia disease syndrome - - - Preferential parent - - - - - - 251365 - Sickle cell S-C disease - - - Preferential parent - - - - - - 251370 - Sickle cell S-D Punjab disease - - - Preferential parent - - - - - - 251375 - Sickle cell S-E disease - - - Preferential parent - - - - - - 251380 - Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - - - Preferential parent - - - - - - 255132 - Adult-onset autosomal recessive sideroblastic anemia - - - Preferential parent - - - - - - 260305 - Autosomal recessive sideroblastic anemia - - - Preferential parent - - - - - - 268322 - Hereditary thrombocytopenia with normal platelets - - - Preferential parent - - - - - - 275729 - Rare hemorrhagic disorder due to a constitutional thrombocytopenia - - - Preferential parent - - - - - - 275736 - Rare hemorrhagic disorder due to a qualitative platelet defect - - - Preferential parent - - - - - - 275745 - Alpha-thalassemia and related disorders - - - Preferential parent - - - - - - 275749 - Beta-thalassemia and related diseases - - - Preferential parent - - - - - - 275752 - Sickle cell disease - - - Preferential parent - - - - - - 275938 - Hemolytic disease due to fetomaternal alloimmunization - - - Preferential parent - - - - - - 275944 - Hemolytic disease of the newborn with Kell alloimmunization - - - Preferential parent - - - - - - 280615 - Hemoglobinopathy Toms River - - - Preferential parent - - - - - - 289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - - Preferential parent - - - - - - 289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - - Preferential parent - - - - - - 293825 - Congenital dyserythropoietic anemia type IV - - - Preferential parent - - - - - - 293830 - Constitutional dyserythropoietic anemia - - - Preferential parent - - - - - - 300298 - Severe congenital hypochromic anemia with ringed sideroblasts - - - Preferential parent - - - - - - 300324 - Persistent polyclonal B-cell lymphocytosis - - - Preferential parent - - - - - - 314399 - Autosomal dominant aplasia and myelodysplasia - - - Preferential parent - - - - - - 314950 - Primary hypereosinophilic syndrome - - - Preferential parent - - - - - - 314962 - Secondary hypereosinophilic syndrome - - - Preferential parent - - - - - - 314970 - Lymphocytic hypereosinophilic syndrome - - - Preferential parent - - - - - - 319651 - Constitutional megaloblastic anemia with severe neurologic disease - - - Preferential parent - - - - - - 330032 - Hemoglobin Lepore-beta-thalassemia syndrome - - - Preferential parent - - - - - - 330041 - Hemoglobin M disease - - - Preferential parent - - - - - - 357008 - Hemolytic uremic syndrome with DGKE deficiency - - - Preferential parent - - - - - - 363727 - X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - - - Preferential parent - - - - - - 370127 - Medich giant platelet syndrome - - - Preferential parent - - - - - - 370131 - White platelet syndrome - - - Preferential parent - - - - - - 391320 - East Texas bleeding disorder - - - Preferential parent - - - - - - 397692 - Hereditary isolated aplastic anemia - - - Preferential parent - - - - - - 398088 - Hereditary cryohydrocytosis with normal stomatin - - - Preferential parent - - - - - - 401764 - Pancytopenia-developmental delay syndrome - - - Preferential parent - - - - - - 420566 - Bleeding disorder due to CalDAG-GEFI deficiency - - - Preferential parent - - - - - - 420611 - Transient myeloproliferative syndrome - - - Preferential parent - - - - - - 436169 - Thrombomodulin-related bleeding disorder - - - Preferential parent - - - - - - 438207 - Severe autosomal recessive macrothrombocytopenia - - - Preferential parent - - - - - - 440731 - L-ferritin deficiency - - - Preferential parent - - - - - - 450322 - Polyclonal hyperviscosity syndrome - - - Preferential parent - - - - - - 464453 - Acquired methemoglobinemia - - - Preferential parent - - - - - - 466026 - Class I glucose-6-phosphate dehydrogenase deficiency - - - Preferential parent - - - - - - 466066 - Genetic hemoglobinopathy - - - Preferential parent - - - - - - 466806 - Autosomal dominant thrombocytopenia with platelet secretion defect - - - Preferential parent - - - - - - 477787 - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - - Preferential parent - - - - - - 477794 - Syndromic constitutional thrombocytopenia - - - Preferential parent - - - - - - 477797 - Isolated constitutional thrombocytopenia - - - Preferential parent - - - - - - 480851 - Hereditary thrombocytopenia with early-onset myelofibrosis - - - Preferential parent - - - - - - 487796 - Takenouchi-Kosaki syndrome - - - Preferential parent - - - - - - 566192 - Congenital autosomal recessive small-platelet thrombocytopenia - - - Preferential parent - - - - - - 570431 - Idiopathic multicentric Castleman disease - - - Preferential parent - - - - - - 570438 - HHV-8-associated multicentric Castleman disease - - - Preferential parent - - - - - - 570470 - Ricin poisoning - - - Preferential parent - - - - - - 599480 - Acquired hemophilia A - - - Preferential parent - - - - - - 599485 - Acquired hemophilia B - - - Preferential parent - - - - - - 599490 - Acquired factor V deficiency - - - Preferential parent - - - - - - 599495 - Acquired factor VII deficiency - - - Preferential parent - - - - - - 599501 - Acquired factor X deficiency - - - Preferential parent - - - - - - 599507 - Acquired factor XI deficiency - - - Preferential parent - - - - - - 599513 - Acquired factor XIII deficiency - - - Preferential parent - - - - - - 599519 - Factor V short isoforms-related bleeding disorder - - - Preferential parent - - - - - - 599579 - Factor V Amsterdam bleeding disorder - - - Preferential parent - - - - - - 600194 - Factor V Atlanta bleeding disorder - - - Preferential parent - - - - - - 600691 - Combined deficiency of factor VII and factor X - - - Preferential parent - - - - - - 611216 - Aplastic anemia-intellectual disability-dwarfism syndrome - - - Preferential parent - - - - - - 617930 - Hemophilia B Leyden - - - Preferential parent - - - - - - 661412 - Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency - - - Preferential parent - - - - - - 674653 - Actinomyopathy-associated syndromic thrombocytopenia - - - Preferential parent - - - - - - 695140 - Sickle cell-beta zero-thalassemia - - - Preferential parent - - - - - - 695147 - Sickle cell-beta plus-thalassemia - - - Preferential parent - - - - - - 698914 - Platelet-activating anti-platelet factor 4 disorder - - - Preferential parent - - - - - - 698945 - Autoimmune heparin-induced thrombocytopenia - - - Preferential parent - - - - - - 699021 - Spontaneous heparin-induced thrombocytopenia - - - Preferential parent - - - - - - 699029 - Vaccine-induced immune thrombotic thrombocytopenia - - - Preferential parent - - - - - - 699822 - Sickle cell S-Lepore disease - - - Preferential parent - - - - - - 700085 - Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant - - - Preferential parent - - - - - - 700090 - Sickle cell S-O Arab disease - - - Preferential parent - - - - - - 700107 - Sickle cell S-other specified hemoglobin variant - - - Preferential parent - - - - - - 700111 - Homozygous hemoglobin O Arab disease - - - Preferential parent - - - - - - 98006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98006 - Rare neurologic disease - - - - - 58 - Alexander disease - - - Preferential parent - - - - - - 141 - Canavan disease - - - Preferential parent - - - - - - 95 - Friedreich ataxia - - - Preferential parent - - - - - - 262 - Duchenne and Becker muscular dystrophy - - - Preferential parent - - - - - - 261 - Emery-Dreifuss muscular dystrophy - - - Preferential parent - - - - - - 269 - Facioscapulohumeral dystrophy - - - Preferential parent - - - - - - 550 - MELAS - - - Preferential parent - - - - - - 551 - MERRF - - - Preferential parent - - - - - - 597 - Central core disease - - - Preferential parent - - - - - - 607 - Nemaline myopathy - - - Preferential parent - - - - - - 593 - Myofibrillar myopathy - - - Preferential parent - - - - - - 614 - Thomsen and Becker disease - - - Preferential parent - - - - - - 684 - Paramyotonia congenita of Von Eulenburg - - - Preferential parent - - - - - - 273 - Steinert myotonic dystrophy - - - Preferential parent - - - - - - 72 - Angelman syndrome - - - Preferential parent - - - - - - 778 - Rett syndrome - - - Preferential parent - - - - - - 1941 - Juvenile absence epilepsy - - - Preferential parent - - - - - - 307 - Juvenile myoclonic epilepsy - - - Preferential parent - - - - - - 100 - Ataxia-telangiectasia - - - Preferential parent - - - - - - 803 - Amyotrophic lateral sclerosis - - - Preferential parent - - - - - - 512 - Metachromatic leukodystrophy - - - Preferential parent - - - - - - 501 - Lafora disease - - - Preferential parent - - - - - - 399 - Huntington disease - - - Preferential parent - - - - - - 96 - Ataxia with vitamin E deficiency - - - Preferential parent - - - - - - 101 - Dentatorubral pallidoluysian atrophy - - - Preferential parent - - - - - - 481 - Kennedy disease - - - Preferential parent - - - - - - 644 - NARP syndrome - - - Preferential parent - - - - - - 636 - Neurofibromatosis type 1 - - - Preferential parent - - - - - - 640 - Hereditary neuropathy with liability to pressure palsies - - - Preferential parent - - - - - - 681 - Hypokalemic periodic paralysis - - - Preferential parent - - - - - - 682 - Hyperkalemic periodic paralysis - - - Preferential parent - - - - - - 99 - Autosomal dominant cerebellar ataxia - - - Preferential parent - - - - - - 97 - Familial paroxysmal ataxia - - - Preferential parent - - - - - - 258 - Laminin subunit alpha 2-related congenital muscular dystrophy - - - Preferential parent - - - - - - 308 - Progressive myoclonic epilepsy type 1 - - - Preferential parent - - - - - - 1947 - Northern epilepsy - - - Preferential parent - - - - - - 385 - Neurodegeneration with brain iron accumulation - - - Preferential parent - - - - - - 596 - X-linked centronuclear myopathy - - - Preferential parent - - - - - - 610 - Bethlem muscular dystrophy - - - Preferential parent - - - - - - 773 - Refsum disease - - - Preferential parent - - - - - - 1496 - Corpus callosum agenesis-neuronopathy syndrome - - - Preferential parent - - - - - - 1764 - Familial dysautonomia - - - Preferential parent - - - - - - 255 - Dopa-responsive dystonia - - - Preferential parent - - - - - - 2020 - Congenital fiber-type disproportion myopathy - - - Preferential parent - - - - - - 606 - Proximal myotonic myopathy - - - Preferential parent - - - - - - 2901 - Neuralgic amyotrophy - - - Preferential parent - - - - - - 3173 - Infantile spasms-broad thumbs syndrome - - - Preferential parent - - - - - - 612 - Potassium-aggravated myotonia - - - Preferential parent - - - - - - 1020 - Early-onset autosomal dominant Alzheimer disease - - - Preferential parent - - - - - - 70 - Proximal spinal muscular atrophy - - - Preferential parent - - - - - - 166 - Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy - - - Preferential parent - - - - - - 423 - Malignant hyperthermia of anesthesia - - - Preferential parent - - - - - - 216 - Neuronal ceroid lipofuscinosis - - - Preferential parent - - - - - - 685 - Hereditary spastic paraplegia - - - Preferential parent - - - - - - 702 - Pelizaeus-Merzbacher disease - - - Preferential parent - - - - - - 270 - Oculopharyngeal muscular dystrophy - - - Preferential parent - - - - - - 589 - Myasthenia gravis - - - Preferential parent - - - - - - 62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - - Preferential parent - - - - - - 611 - Inclusion body myositis - - - Preferential parent - - - - - - 204 - Sporadic Creutzfeldt-Jakob disease - - - Preferential parent - - - - - - 598 - Multiminicore myopathy - - - Preferential parent - - - - - - 2131 - Alternating hemiplegia of childhood - - - Preferential parent - - - - - - 2406 - Locked-in syndrome - - - Preferential parent - - - - - - 46 - Adenylosuccinate lyase deficiency - - - Preferential parent - - - - - - 356 - Gerstmann-Straussler-Scheinker syndrome - - - Preferential parent - - - - - - 466 - Fatal familial insomnia - - - Preferential parent - - - - - - 98 - Autosomal recessive spastic ataxia of Charlevoix-Saguenay - - - Preferential parent - - - - - - 1177 - Early-onset cerebellar ataxia with retained tendon reflexes - - - Preferential parent - - - - - - 1431 - Paroxysmal dyskinesia - - - Preferential parent - - - - - - 2103 - Guillain-Barré syndrome - - - Preferential parent - - - - - - 683 - Progressive supranuclear palsy - - - Preferential parent - - - - - - 3198 - Stiff person spectrum disorder - - - Preferential parent - - - - - - 267 - Calpain-3-related limb-girdle muscular dystrophy R1 - - - Preferential parent - - - - - - 2932 - Chronic inflammatory demyelinating polyneuropathy - - - Preferential parent - - - - - - 3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - - Preferential parent - - - - - - 2806 - Subacute sclerosing leukoencephalitis - - - Preferential parent - - - - - - 2382 - Lennox-Gastaut syndrome - - - Preferential parent - - - - - - 1934 - Early infantile developmental and epileptic encephalopathy - - - Preferential parent - - - - - - 1942 - Epilepsy with myoclonic-atonic seizures - - - Preferential parent - - - - - - 1943 - Early-onset progressive encephalopathy with migrant continuous myoclonus - - - Preferential parent - - - - - - 2828 - Young-onset Parkinson disease - - - Preferential parent - - - - - - 642 - Hereditary sensory and autonomic neuropathy type 4 - - - Preferential parent - - - - - - 643 - Giant axonal neuropathy - - - Preferential parent - - - - - - 1949 - Self-limited neonatal epilepsy - - - Preferential parent - - - - - - 136 - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - - Preferential parent - - - - - - 569 - Familial or sporadic hemiplegic migraine - - - Preferential parent - - - - - - 1878 - TRIM32-related limb-girdle muscular dystrophy R8 - - - Preferential parent - - - - - - 1951 - Epilepsy-telangiectasia syndrome - - - Preferential parent - - - - - - 970 - Hereditary sensory and autonomic neuropathy type 2 - - - Preferential parent - - - - - - 972 - Hereditary continuous muscle fiber activity - - - Preferential parent - - - - - - 51 - Aicardi-Goutières syndrome - - - Preferential parent - - - - - - 59 - Allan-Herndon-Dudley syndrome - - - Preferential parent - - - - - - 1062 - Hereditary neurocutaneous malformation - - - Preferential parent - - - - - - 1168 - Ataxia-oculomotor apraxia type 1 - - - Preferential parent - - - - - - 1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - - Preferential parent - - - - - - 1175 - X-linked progressive cerebellar ataxia - - - Preferential parent - - - - - - 1178 - Ataxia-tapetoretinal degeneration syndrome - - - Preferential parent - - - - - - 1179 - Benign paroxysmal tonic upgaze of childhood with ataxia - - - Preferential parent - - - - - - 1173 - Cerebellar ataxia-hypogonadism syndrome - - - Preferential parent - - - - - - 1182 - Spastic ataxia with congenital miosis - - - Preferential parent - - - - - - 1186 - Infantile-onset spinocerebellar ataxia - - - Preferential parent - - - - - - 1214 - Progressive hemifacial atrophy - - - Preferential parent - - - - - - 1216 - Autosomal dominant congenital benign spinal muscular atrophy - - - Preferential parent - - - - - - 1229 - Congenital intrauterine infection-like syndrome - - - Preferential parent - - - - - - 1313 - Infantile choroidocerebral calcification syndrome - - - Preferential parent - - - - - - 1314 - Symmetrical thalamic calcifications - - - Preferential parent - - - - - - 1429 - Benign hereditary chorea - - - Preferential parent - - - - - - 1545 - Crisponi syndrome - - - Preferential parent - - - - - - 1617 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - - - Preferential parent - - - - - - 1659 - Dermatoleukodystrophy - - - Preferential parent - - - - - - 1766 - Dysequilibrium syndrome - - - Preferential parent - - - - - - 1799 - Familial developmental dysphasia - - - Preferential parent - - - - - - 1875 - Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - - - Preferential parent - - - - - - 1980 - Bilateral striopallidodentate calcinosis - - - Preferential parent - - - - - - 2048 - Foix-Chavany-Marie syndrome - - - Preferential parent - - - - - - 2246 - Cerebellar hypoplasia-tapetoretinal degeneration syndrome - - - Preferential parent - - - - - - 2274 - Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome - - - Preferential parent - - - - - - 2285 - Primary basilar invagination - - - Preferential parent - - - - - - 2289 - Neuronal intranuclear inclusion disease - - - Preferential parent - - - - - - 2388 - Choreoacanthocytosis - - - Preferential parent - - - - - - 2400 - Peripheral motor neuropathy-dysautonomia syndrome - - - Preferential parent - - - - - - 559 - Marinesco-Sjögren syndrome - - - Preferential parent - - - - - - 2560 - Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome - - - Preferential parent - - - - - - 2571 - X-linked immunoneurologic disorder - - - Preferential parent - - - - - - 2572 - Spastic ataxia-corneal dystrophy syndrome - - - Preferential parent - - - - - - 2573 - Moyamoya disease - - - Preferential parent - - - - - - 2574 - Moynahan syndrome - - - Preferential parent - - - - - - 2579 - Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome - - - Preferential parent - - - - - - 2585 - Ataxia-pancytopenia syndrome - - - Preferential parent - - - - - - 2590 - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - - Preferential parent - - - - - - 2593 - Tubular aggregate myopathy - - - Preferential parent - - - - - - 2672 - Neuhauser-Eichner-Opitz syndrome - - - Preferential parent - - - - - - 661 - Congenital central hypoventilation syndrome - - - Preferential parent - - - - - - 2798 - Pachygyria-intellectual disability-epilepsy syndrome - - - Preferential parent - - - - - - 2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - - Preferential parent - - - - - - 2807 - Papilloma of choroid plexus - - - Preferential parent - - - - - - 2809 - Familial recurrent peripheral facial palsy - - - Preferential parent - - - - - - 2815 - Spastic paraparesis-deafness syndrome - - - Preferential parent - - - - - - 2818 - Spastic paraplegia-glaucoma-intellectual disability syndrome - - - Preferential parent - - - - - - 2819 - Spastic paraplegia-facial-cutaneous lesions syndrome - - - Preferential parent - - - - - - 2820 - Spastic paraplegia-nephritis-deafness syndrome - - - Preferential parent - - - - - - 2821 - Spastic paraplegia-neuropathy-poikiloderma syndrome - - - Preferential parent - - - - - - 2822 - Autosomal recessive spastic paraplegia type 11 - - - Preferential parent - - - - - - 2826 - Spastic paraplegia-precocious puberty syndrome - - - Preferential parent - - - - - - 2836 - PEHO syndrome - - - Preferential parent - - - - - - 2926 - Digital extensor muscle aplasia-polyneuropathy - - - Preferential parent - - - - - - 2928 - Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome - - - Preferential parent - - - - - - 3010 - Qazi-Markouizos syndrome - - - Preferential parent - - - - - - 3042 - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - - Preferential parent - - - - - - 3101 - Richieri Costa-da Silva syndrome - - - Preferential parent - - - - - - 3115 - Roussy-Lévy syndrome - - - Preferential parent - - - - - - 3175 - X-linked spasticity-intellectual disability-epilepsy syndrome - - - Preferential parent - - - - - - 3197 - Hereditary hyperekplexia - - - Preferential parent - - - - - - 3217 - Deafness-small bowel diverticulosis-neuropathy syndrome - - - Preferential parent - - - - - - 3350 - Tremor-nystagmus-duodenal ulcer syndrome - - - Preferential parent - - - - - - 3465 - Worster-Drought syndrome - - - Preferential parent - - - - - - 2076 - X-linked intellectual disability-epilepsy syndrome - - - Preferential parent - - - - - - 3095 - Atypical Rett syndrome - - - Preferential parent - - - - - - 1217 - Spinal atrophy-ophthalmoplegia-pyramidal syndrome - - - Preferential parent - - - - - - 2680 - Hypomyelination neuropathy-arthrogryposis syndrome - - - Preferential parent - - - - - - 777 - X-linked non-syndromic intellectual disability - - - Preferential parent - - - - - - 1945 - Self-limited epilepsy with centrotemporal spikes - - - Preferential parent - - - - - - 282 - Frontotemporal dementia - - - Preferential parent - - - - - - 2942 - Postpoliomyelitis syndrome - - - Preferential parent - - - - - - 1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - - Preferential parent - - - - - - 599 - Distal myopathy - - - Preferential parent - - - - - - 407 - Glycine encephalopathy - - - Preferential parent - - - - - - 309 - Familial partial epilepsy - - - Preferential parent - - - - - - 2596 - Myopathy and diabetes mellitus - - - Preferential parent - - - - - - 1866 - Focal, segmental or multifocal dystonia - - - Preferential parent - - - - - - 2073 - Narcolepsy type 1 - - - Preferential parent - - - - - - 1576 - Infantile bilateral striatal necrosis - - - Preferential parent - - - - - - 441 - Pure autonomic failure - - - Preferential parent - - - - - - 256 - Early-onset generalized limb-onset dystonia - - - Preferential parent - - - - - - 1320 - Idiopathic camptocormia - - - Preferential parent - - - - - - 306 - Self-limited infantile epilepsy - - - Preferential parent - - - - - - 1544 - Benign focal seizures of adolescence - - - Preferential parent - - - - - - 135 - CACH syndrome - - - Preferential parent - - - - - - 1172 - Autosomal recessive cerebellar ataxia - - - Preferential parent - - - - - - 3280 - Syringomyelia - - - Preferential parent - - - - - - 2478 - Megalencephalic leukoencephalopathy with subcortical cysts - - - Preferential parent - - - - - - 1183 - Opsoclonus-myoclonus syndrome - - - Preferential parent - - - - - - 1929 - Rasmussen subacute encephalitis - - - Preferential parent - - - - - - 3096 - Reye syndrome - - - Preferential parent - - - - - - 592 - Macrophagic myofasciitis - - - Preferential parent - - - - - - 3437 - Vogt-Koyanagi-Harada disease - - - Preferential parent - - - - - - 595 - Centronuclear myopathy - - - Preferential parent - - - - - - 396 - Chronic hiccup - - - Preferential parent - - - - - - 310 - Reflex epilepsy - - - Preferential parent - - - - - - 831 - Congenital cervical spinal stenosis - - - Preferential parent - - - - - - 641 - Multifocal motor neuropathy - - - Preferential parent - - - - - - 119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - - Preferential parent - - - - - - 353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - - Preferential parent - - - - - - 219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - - Preferential parent - - - - - - 268 - Dysferlin-related limb-girdle muscular dystrophy R2 - - - Preferential parent - - - - - - 603 - Distal myopathy, Welander type - - - Preferential parent - - - - - - 602 - GNE myopathy - - - Preferential parent - - - - - - 609 - Tibial muscular dystrophy - - - Preferential parent - - - - - - 600 - Vocal cord and pharyngeal distal myopathy - - - Preferential parent - - - - - - 263 - Limb-girdle muscular dystrophy - - - Preferential parent - - - - - - 725 - Developmental and epileptic encephalopathy with spike-wave activation in sleep - - - Preferential parent - - - - - - 590 - Congenital myasthenic syndrome - - - Preferential parent - - - - - - 102 - Multiple system atrophy - - - Preferential parent - - - - - - 25968 - Self-limited childhood occipital epilepsy - - - Preferential parent - - - - - - 25980 - X-linked myopathy with excessive autophagy - - - Preferential parent - - - - - - 29822 - Spontaneous periodic hypothermia - - - Preferential parent - - - - - - 31709 - Infantile convulsions and choreoathetosis - - - Preferential parent - - - - - - 33069 - Dravet syndrome - - - Preferential parent - - - - - - 33208 - Idiopathic hypersomnia - - - Preferential parent - - - - - - 33445 - Neuroectodermal melanolysosomal disease - - - Preferential parent - - - - - - 33543 - Kleine-Levin syndrome - - - Preferential parent - - - - - - 34514 - Telethonin-related limb-girdle muscular dystrophy R7 - - - Preferential parent - - - - - - 34515 - FKRP-related limb-girdle muscular dystrophy R9 - - - Preferential parent - - - - - - 34516 - DNAJB6-related limb-girdle muscular dystrophy D1 - - - Preferential parent - - - - - - 34520 - Congenital muscular dystrophy with integrin alpha-7 deficiency - - - Preferential parent - - - - - - 35069 - Infantile neuroaxonal dystrophy - - - Preferential parent - - - - - - 35689 - Primary lateral sclerosis - - - Preferential parent - - - - - - 36383 - COL4A1/2-related familial vascular leukoencephalopathy - - - Preferential parent - - - - - - 36386 - Hereditary sensory and autonomic neuropathy type 1 - - - Preferential parent - - - - - - 36387 - Genetic epilepsy with febrile seizure plus - - - Preferential parent - - - - - - 36388 - Paraneoplastic neurologic syndrome - - - Preferential parent - - - - - - 36899 - Myoclonus-dystonia syndrome - - - Preferential parent - - - - - - 37553 - Andersen-Tawil syndrome - - - Preferential parent - - - - - - 37612 - Episodic ataxia type 1 - - - Preferential parent - - - - - - 68354 - Rare sleep disorder - - - Preferential parent - - - - - - 68356 - Leukodystrophy - - - Preferential parent - - - - - - 68363 - Rare dystonia - - - Preferential parent - - - - - - 68381 - Neuromuscular disease - - - Preferential parent - - - - - - 68402 - Rare parkinsonian disorder - - - Preferential parent - - - - - - 43116 - Serotonin syndrome - - - Preferential parent - - - - - - 43393 - Lambert-Eaton myasthenic syndrome - - - Preferential parent - - - - - - 45448 - Miyoshi myopathy - - - Preferential parent - - - - - - 46348 - Paroxysmal extreme pain disorder - - - Preferential parent - - - - - - 48162 - Lewis-Sumner syndrome - - - Preferential parent - - - - - - 48818 - Aceruloplasminemia - - - Preferential parent - - - - - - 48918 - Focal myositis - - - Preferential parent - - - - - - 50812 - Zellweger-like syndrome without peroxisomal anomalies - - - Preferential parent - - - - - - 51188 - Ethylmalonic encephalopathy - - - Preferential parent - - - - - - 51890 - Anterior cutaneous nerve entrapment syndrome - - - Preferential parent - - - - - - 52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - - Preferential parent - - - - - - 53347 - Brody myopathy - - - Preferential parent - - - - - - 53351 - X-linked dystonia-parkinsonism - - - Preferential parent - - - - - - 53372 - Hereditary geniospasm - - - Preferential parent - - - - - - 53583 - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - - - Preferential parent - - - - - - 53698 - Myosin storage myopathy - - - Preferential parent - - - - - - 53739 - Distal hereditary motor neuropathy - - - Preferential parent - - - - - - 54247 - Posterior cortical atrophy - - - Preferential parent - - - - - - 55595 - TNP03-related limb-girdle muscular dystrophy D2 - - - Preferential parent - - - - - - 55596 - HNRNPDL-related limb-girdle muscular dystrophy D3 - - - Preferential parent - - - - - - 56970 - Human prion disease - - - Preferential parent - - - - - - 57145 - SUNCT syndrome - - - Preferential parent - - - - - - 59135 - Laing distal myopathy - - - Preferential parent - - - - - - 59298 - Schilder disease - - - Preferential parent - - - - - - 59306 - McLeod neuroacanthocytosis syndrome - - - Preferential parent - - - - - - 60039 - Pudendal nerve entrapment syndrome - - - Preferential parent - - - - - - 63273 - Distal myopathy with posterior leg and anterior hand involvement - - - Preferential parent - - - - - - 64280 - Childhood absence epilepsy - - - Preferential parent - - - - - - 64746 - Autosomal dominant Charcot-Marie-Tooth disease type 2 - - - Preferential parent - - - - - - 64747 - X-linked Charcot-Marie-Tooth disease - - - Preferential parent - - - - - - 64748 - Dejerine-Sottas syndrome - - - Preferential parent - - - - - - 64749 - Charcot-Marie-Tooth disease type 4 - - - Preferential parent - - - - - - 64751 - Hereditary motor and sensory neuropathy type 5 - - - Preferential parent - - - - - - 64752 - Hereditary sensory and autonomic neuropathy type 5 - - - Preferential parent - - - - - - 64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - - Preferential parent - - - - - - 65284 - Biotin-thiamine-responsive basal ganglia disease - - - Preferential parent - - - - - - 65288 - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - - Preferential parent - - - - - - 65683 - Isolated focal cortical dysplasia - - - Preferential parent - - - - - - 65684 - Monomelic amyotrophy - - - Preferential parent - - - - - - 65753 - Charcot-Marie-Tooth disease type 1 - - - Preferential parent - - - - - - 66624 - PANDAS - - - Preferential parent - - - - - - 69739 - Athabaskan brainstem dysgenesis syndrome - - - Preferential parent - - - - - - 70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - - Preferential parent - - - - - - 70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - - Preferential parent - - - - - - 71211 - Neuromyelitis optica spectrum disorder - - - Preferential parent - - - - - - 71272 - Sandifer syndrome - - - Preferential parent - - - - - - 71277 - Classic glucose transporter type 1 deficiency syndrome - - - Preferential parent - - - - - - 71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - - Preferential parent - - - - - - 71279 - CANOMAD syndrome - - - Preferential parent - - - - - - 71281 - Rare central nervous system and retinal vascular disease - - - Preferential parent - - - - - - 71517 - Rapid-onset dystonia-parkinsonism - - - Preferential parent - - - - - - 71518 - Benign paroxysmal torticollis of infancy - - - Preferential parent - - - - - - 71519 - Psychogenic movement disorders - - - Preferential parent - - - - - - 71859 - Rare genetic neurological disorder - - - Preferential parent - - - - - - 71864 - Muscular channelopathy - - - Preferential parent - - - - - - 73229 - HANAC syndrome - - - Preferential parent - - - - - - 73245 - Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome - - - Preferential parent - - - - - - 73267 - Non-24-hour sleep-wake syndrome - - - Preferential parent - - - - - - 75326 - Familial isolated retinal arteriolar tortuosity - - - Preferential parent - - - - - - 75567 - Primary progressive freezing gait - - - Preferential parent - - - - - - 75840 - Ullrich congenital muscular dystrophy - - - Preferential parent - - - - - - 77295 - Odontoleukodystrophy - - - Preferential parent - - - - - - 79091 - Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome - - - Preferential parent - - - - - - 79093 - Foix-Alajouanine syndrome - - - Preferential parent - - - - - - 79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - - Preferential parent - - - - - - 79097 - Folinic acid-responsive seizures - - - Preferential parent - - - - - - 79102 - Thyrotoxic periodic paralysis - - - Preferential parent - - - - - - 79135 - Episodic ataxia type 3 - - - Preferential parent - - - - - - 79136 - Episodic ataxia type 4 - - - Preferential parent - - - - - - 79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - - Preferential parent - - - - - - 79138 - Bickerstaff brainstem encephalitis - - - Preferential parent - - - - - - 79155 - Hydroxykynureninuria - - - Preferential parent - - - - - - 79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - - Preferential parent - - - - - - 79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - - Preferential parent - - - - - - 79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - - Preferential parent - - - - - - 83330 - Proximal spinal muscular atrophy type 1 - - - Preferential parent - - - - - - 83418 - Proximal spinal muscular atrophy type 2 - - - Preferential parent - - - - - - 83419 - Proximal spinal muscular atrophy type 3 - - - Preferential parent - - - - - - 83420 - Proximal spinal muscular atrophy type 4 - - - Preferential parent - - - - - - 83452 - Complex regional pain syndrome - - - Preferential parent - - - - - - 83465 - Narcolepsy type 2 - - - Preferential parent - - - - - - 83467 - Morvan syndrome - - - Preferential parent - - - - - - 83597 - Acute disseminated encephalomyelitis - - - Preferential parent - - - - - - 83601 - Steroid-responsive encephalopathy associated with autoimmune thyroiditis - - - Preferential parent - - - - - - 83629 - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - - Preferential parent - - - - - - 84093 - Hereditary thermosensitive neuropathy - - - Preferential parent - - - - - - 84132 - Desmin-related myopathy with Mallory body-like inclusions - - - Preferential parent - - - - - - 84142 - Isaacs syndrome - - - Preferential parent - - - - - - 85102 - Perineurioma - - - Preferential parent - - - - - - 85110 - Familial encephalopathy with neuroserpin inclusion bodies - - - Preferential parent - - - - - - 85136 - Cystic leukoencephalopathy without megalencephaly - - - Preferential parent - - - - - - 85146 - Neurogenic scapuloperoneal syndrome, Kaeser type - - - Preferential parent - - - - - - 85162 - Facial onset sensory and motor neuronopathy - - - Preferential parent - - - - - - 85447 - ATTRV30M amyloidosis - - - Preferential parent - - - - - - 85458 - Cerebral Amyloid Angiopathy - - - Preferential parent - - - - - - 86812 - POMT1-related limb-girdle muscular dystrophy R11 - - - Preferential parent - - - - - - 86814 - Familial adult myoclonic epilepsy - - - Preferential parent - - - - - - 86906 - Gelastic seizures with hypothalamic hamartoma - - - Preferential parent - - - - - - 86908 - Hemiconvulsion-hemiplegia-epilepsy syndrome - - - Preferential parent - - - - - - 86909 - Myoclonic epilepsy of infancy - - - Preferential parent - - - - - - 86911 - Epilepsy with myoclonic absences - - - Preferential parent - - - - - - 86913 - Myoclonic epilepsy in non-progressive encephalopathies - - - Preferential parent - - - - - - 87277 - Rare intellectual disability - - - Preferential parent - - - - - - 88616 - Autosomal recessive non-syndromic intellectual disability - - - Preferential parent - - - - - - 88618 - S-adenosylhomocysteine hydrolase deficiency - - - Preferential parent - - - - - - 88619 - Familial acute necrotizing encephalopathy - - - Preferential parent - - - - - - 88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - - Preferential parent - - - - - - 88635 - Vacuolar myopathy with sarcoplasmic reticulum protein aggregates - - - Preferential parent - - - - - - 88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - - Preferential parent - - - - - - 88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - - Preferential parent - - - - - - 88642 - Congenital insensitivity to pain-anosmia-neuropathic arthropathy - - - Preferential parent - - - - - - 88644 - Autosomal recessive ataxia, Beauce type - - - Preferential parent - - - - - - 89043 - Rare dementia - - - Preferential parent - - - - - - 90020 - Parkinson-dementia complex of Guam - - - Preferential parent - - - - - - 90021 - Radiation myelitis - - - Preferential parent - - - - - - 90026 - Primary erythromelalgia - - - Preferential parent - - - - - - 90056 - Moderate and severe traumatic brain injury - - - Preferential parent - - - - - - 90058 - Spinal cord injury - - - Preferential parent - - - - - - 90065 - Acquired aneurysmal subarachnoid hemorrhage - - - Preferential parent - - - - - - 90103 - Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome - - - Preferential parent - - - - - - 90114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease - - - Preferential parent - - - - - - 90117 - Hereditary motor and sensory neuropathy, Okinawa type - - - Preferential parent - - - - - - 90118 - Severe early-onset axonal neuropathy due to MFN2 deficiency - - - Preferential parent - - - - - - 90119 - Hereditary motor and sensory neuropathy with acrodystrophy - - - Preferential parent - - - - - - 90120 - Hereditary motor and sensory neuropathy type 6 - - - Preferential parent - - - - - - 90658 - Charcot-Marie-Tooth disease type 1E - - - Preferential parent - - - - - - 91024 - Autosomal recessive axonal hereditary motor and sensory neuropathy - - - Preferential parent - - - - - - 93114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - - - Preferential parent - - - - - - 93256 - Fragile X-associated tremor/ataxia syndrome - - - Preferential parent - - - - - - 93921 - Full schwannomatosis - - - Preferential parent - - - - - - 93958 - Oromandibular dystonia - - - Preferential parent - - - - - - 93964 - Blepharospasm-oromandibular dystonia syndrome - - - Preferential parent - - - - - - 94091 - Mills syndrome - - - Preferential parent - - - - - - 94093 - Neuroleptic malignant syndrome - - - Preferential parent - - - - - - 94122 - Cerebellar ataxia, Cayman type - - - Preferential parent - - - - - - 94124 - Spinocerebellar ataxia with axonal neuropathy type 1 - - - Preferential parent - - - - - - 94125 - Recessive mitochondrial ataxia syndrome - - - Preferential parent - - - - - - 94145 - Autosomal dominant cerebellar ataxia type I - - - Preferential parent - - - - - - 94147 - Spinocerebellar ataxia type 7 - - - Preferential parent - - - - - - 94148 - Autosomal dominant cerebellar ataxia type III - - - Preferential parent - - - - - - 94149 - Autosomal dominant cerebellar ataxia type IV - - - Preferential parent - - - - - - 95432 - Primary progressive aphasia - - - Preferential parent - - - - - - 95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - - Preferential parent - - - - - - 95434 - Autosomal recessive cerebellar ataxia-movement disorder syndrome - - - Preferential parent - - - - - - 97229 - Riboflavin transporter deficiency - - - Preferential parent - - - - - - 97232 - Fingerprint body myopathy - - - Preferential parent - - - - - - 97238 - Rippling muscle disease - - - Preferential parent - - - - - - 97239 - Reducing body myopathy - - - Preferential parent - - - - - - 97240 - Zebra body myopathy - - - Preferential parent - - - - - - 97242 - Congenital muscular dystrophy - - - Preferential parent - - - - - - 97244 - Rigid spine syndrome - - - Preferential parent - - - - - - 97245 - Congenital myopathy - - - Preferential parent - - - - - - 97275 - Encephalitis - - - Preferential parent - - - - - - 97345 - ABri amyloidosis - - - Preferential parent - - - - - - 97346 - ADan amyloidosis - - - Preferential parent - - - - - - 97349 - Postencephalitic parkinsonism - - - Preferential parent - - - - - - 97353 - Dementia pugilistica - - - Preferential parent - - - - - - 97355 - Caribbean parkinsonism - - - Preferential parent - - - - - - 98022 - Rare headache - - - Preferential parent - - - - - - 98033 - Rare neurologic disease with psychiatric involvement - - - Preferential parent - - - - - - 98095 - Autosomal recessive congenital cerebellar ataxia - - - Preferential parent - - - - - - 98096 - Autosomal recessive metabolic cerebellar ataxia - - - Preferential parent - - - - - - 98097 - Autosomal recessive cerebellar ataxia due to a DNA repair defect - - - Preferential parent - - - - - - 98098 - Autosomal recessive degenerative and progressive cerebellar ataxia - - - Preferential parent - - - - - - 98099 - Autosomal recessive syndromic cerebellar ataxia - - - Preferential parent - - - - - - 98203 - Combined dystonia - - - Preferential parent - - - - - - 98255 - Chronic encephalitis - - - Preferential parent - - - - - - 98259 - Childhood-onset epilepsy syndrome - - - Preferential parent - - - - - - 98260 - Adolescent-onset epilepsy syndrome - - - Preferential parent - - - - - - 98261 - Progressive myoclonic epilepsy - - - Preferential parent - - - - - - 98472 - Skeletal muscle disease - - - Preferential parent - - - - - - 98473 - Muscular dystrophy - - - Preferential parent - - - - - - 98482 - Idiopathic inflammatory myopathy - - - Preferential parent - - - - - - 98486 - Metabolic myopathy - - - Preferential parent - - - - - - 98491 - Neuromuscular junction disease - - - Preferential parent - - - - - - 98494 - Acquired neuromuscular junction disease - - - Preferential parent - - - - - - 98495 - Genetic neuromuscular junction disease - - - Preferential parent - - - - - - 98496 - Rare peripheral neuropathy - - - Preferential parent - - - - - - 98497 - Genetic peripheral neuropathy - - - Preferential parent - - - - - - 98503 - Motor neuron disease - - - Preferential parent - - - - - - 98505 - Genetic motor neuron disease - - - Preferential parent - - - - - - 98506 - Acquired motor neuron disease - - - Preferential parent - - - - - - 98534 - Neurodegenerative disease with dementia - - - Preferential parent - - - - - - 98535 - Frontotemporal degeneration with dementia - - - Preferential parent - - - - - - 98538 - Ataxia with dementia - - - Preferential parent - - - - - - 98539 - Early-onset ataxia with dementia - - - Preferential parent - - - - - - 98540 - Late-onset ataxia with dementia - - - Preferential parent - - - - - - 98542 - Infectious disease with dementia - - - Preferential parent - - - - - - 98543 - Metabolic disease with dementia - - - Preferential parent - - - - - - 98544 - Cerebral lipidosis with dementia - - - Preferential parent - - - - - - 98549 - Rare cerebrovascular dementia - - - Preferential parent - - - - - - 98737 - Genetic neurological muscular channelopathy - - - Preferential parent - - - - - - 98738 - Neurological muscular channelopathy due to a genetic sodium channel defect - - - Preferential parent - - - - - - 98739 - Neurological muscular channelopathy due to a genetic chloride channel defect - - - Preferential parent - - - - - - 98740 - Neurological muscular channelopathy due to a genetic calcium channel defect - - - Preferential parent - - - - - - 98741 - Neurological muscular channelopathy due to a genetic potassium channel defect - - - Preferential parent - - - - - - 98742 - Neurological muscular channelopathy due to a genetic ryanodine receptor defect - - - Preferential parent - - - - - - 98743 - Genetic neurological channelopathy of the central nervous system - - - Preferential parent - - - - - - 98744 - Neurological channelopathy of the central nervous system due to a genetic sodium channel defect - - - Preferential parent - - - - - - 98745 - Neurological channelopathy of the central nervous system due to a genetic calcium channel defect - - - Preferential parent - - - - - - 98746 - Neurological channelopathy of the central nervous system due to a genetic potassium channel defect - - - Preferential parent - - - - - - 98747 - Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect - - - Preferential parent - - - - - - 98748 - Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect - - - Preferential parent - - - - - - 98749 - Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect - - - Preferential parent - - - - - - 98750 - Autoimmune neurological channelopathy - - - Preferential parent - - - - - - 98755 - Spinocerebellar ataxia type 1 - - - Preferential parent - - - - - - 98756 - Spinocerebellar ataxia type 2 - - - Preferential parent - - - - - - 98757 - Spinocerebellar ataxia type 3 - - - Preferential parent - - - - - - 98758 - Spinocerebellar ataxia type 6 - - - Preferential parent - - - - - - 98759 - Spinocerebellar ataxia type 17 - - - Preferential parent - - - - - - 98760 - Spinocerebellar ataxia type 8 - - - Preferential parent - - - - - - 98761 - Spinocerebellar ataxia type 10 - - - Preferential parent - - - - - - 98762 - Spinocerebellar ataxia type 12 - - - Preferential parent - - - - - - 98763 - Spinocerebellar ataxia type 14 - - - Preferential parent - - - - - - 98764 - Spinocerebellar ataxia type 27A - - - Preferential parent - - - - - - 98765 - Spinocerebellar ataxia type 4 - - - Preferential parent - - - - - - 98766 - Spinocerebellar ataxia type 5 - - - Preferential parent - - - - - - 98767 - Spinocerebellar ataxia type 11 - - - Preferential parent - - - - - - 98768 - Spinocerebellar ataxia type 13 - - - Preferential parent - - - - - - 98769 - Spinocerebellar ataxia type 15/16 - - - Preferential parent - - - - - - 98771 - Spinocerebellar ataxia type 18 - - - Preferential parent - - - - - - 98772 - Spinocerebellar ataxia type 19/22 - - - Preferential parent - - - - - - 98773 - Spinocerebellar ataxia type 21 - - - Preferential parent - - - - - - 98784 - Sleep-related hypermotor epilepsy - - - Preferential parent - - - - - - 98805 - Primary dystonia, DYT4 type - - - Preferential parent - - - - - - 98806 - Primary dystonia, DYT6 type - - - Preferential parent - - - - - - 98807 - Primary dystonia, DYT13 type - - - Preferential parent - - - - - - 98808 - Autosomal dominant dopa-responsive dystonia - - - Preferential parent - - - - - - 98809 - Paroxysmal kinesigenic dyskinesia - - - Preferential parent - - - - - - 98810 - Paroxysmal non-kinesigenic dyskinesia - - - Preferential parent - - - - - - 98811 - Paroxysmal exertion-induced dyskinesia - - - Preferential parent - - - - - - 98815 - Self-limited epilepsy with autonomic seizures - - - Preferential parent - - - - - - 98816 - Childhood occipital visual epilepsy - - - Preferential parent - - - - - - 98818 - Landau-Kleffner syndrome - - - Preferential parent - - - - - - 98819 - Familial temporal lobe epilepsy - - - Preferential parent - - - - - - 98820 - Familial focal epilepsy with variable foci - - - Preferential parent - - - - - - 98853 - Autosomal dominant Emery-Dreifuss muscular dystrophy - - - Preferential parent - - - - - - 98855 - Autosomal recessive Emery-Dreifuss muscular dystrophy - - - Preferential parent - - - - - - 98856 - Charcot-Marie-Tooth disease type 2B1 - - - Preferential parent - - - - - - 98863 - X-linked Emery-Dreifuss muscular dystrophy - - - Preferential parent - - - - - - 98888 - X-linked complex spastic paraplegia - - - Preferential parent - - - - - - 98893 - Congenital muscular dystrophy type 1B - - - Preferential parent - - - - - - 98895 - Becker muscular dystrophy - - - Preferential parent - - - - - - 98896 - Duchenne muscular dystrophy - - - Preferential parent - - - - - - 98897 - Oculopharyngodistal myopathy - - - Preferential parent - - - - - - 98902 - Amish nemaline myopathy - - - Preferential parent - - - - - - 98904 - Congenital myopathy with excess of thin filaments - - - Preferential parent - - - - - - 98905 - Congenital multicore myopathy with external ophthalmoplegia - - - Preferential parent - - - - - - 98908 - Neutral lipid storage disease with myopathy - - - Preferential parent - - - - - - 98909 - Desminopathy - - - Preferential parent - - - - - - 98910 - Alpha-crystallinopathy - - - Preferential parent - - - - - - 98911 - Distal myotilinopathy - - - Preferential parent - - - - - - 98912 - Late-onset distal myopathy, Markesbery-Griggs type - - - Preferential parent - - - - - - 98913 - Postsynaptic congenital myasthenic syndromes - - - Preferential parent - - - - - - 98914 - Presynaptic congenital myasthenic syndromes - - - Preferential parent - - - - - - 98915 - Synaptic congenital myasthenic syndromes - - - Preferential parent - - - - - - 98916 - Acute inflammatory demyelinating polyradiculoneuropathy - - - Preferential parent - - - - - - 98917 - Acute motor and sensory axonal neuropathy - - - Preferential parent - - - - - - 98918 - Acute motor axonal neuropathy - - - Preferential parent - - - - - - 98919 - Miller Fisher syndrome - - - Preferential parent - - - - - - 98920 - Spinal muscular atrophy with respiratory distress type 1 - - - Preferential parent - - - - - - 98922 - Blake pouch cyst - - - Preferential parent - - - - - - 98933 - Multiple system atrophy, parkinsonian type - - - Preferential parent - - - - - - 98934 - Huntington disease-like 2 - - - Preferential parent - - - - - - 99013 - Spastic paraplegia type 7 - - - Preferential parent - - - - - - 99015 - Spastic paraplegia type 2 - - - Preferential parent - - - - - - 99027 - Adult-onset autosomal dominant leukodystrophy - - - Preferential parent - - - - - - 99657 - Primary dystonia, DYT2 type - - - Preferential parent - - - - - - 99701 - Mesial temporal lobe epilepsy with hippocampal sclerosis - - - Preferential parent - - - - - - 99734 - Myotonia fluctuans - - - Preferential parent - - - - - - 99735 - Myotonia permanens - - - Preferential parent - - - - - - 99736 - Acetazolamide-responsive myotonia - - - Preferential parent - - - - - - 99750 - Atypical progressive supranuclear palsy syndrome - - - Preferential parent - - - - - - 99803 - Haddad syndrome - - - Preferential parent - - - - - - 99807 - PEHO-like syndrome - - - Preferential parent - - - - - - 99846 - Autosomal dominant myoglobinuria - - - Preferential parent - - - - - - 99852 - Ravine syndrome - - - Preferential parent - - - - - - 99853 - Ovarioleukodystrophy - - - Preferential parent - - - - - - 99854 - Cree leukoencephalopathy - - - Preferential parent - - - - - - 99857 - Secondary syringomyelia - - - Preferential parent - - - - - - 99858 - Idiopathic syringomyelia - - - Preferential parent - - - - - - 99936 - Autosomal dominant Charcot-Marie-Tooth disease type 2B - - - Preferential parent - - - - - - 99937 - Autosomal dominant Charcot-Marie-Tooth disease type 2C - - - Preferential parent - - - - - - 99938 - Autosomal dominant Charcot-Marie-Tooth disease type 2D - - - Preferential parent - - - - - - 99939 - Autosomal dominant Charcot-Marie-Tooth disease type 2E - - - Preferential parent - - - - - - 99940 - Autosomal dominant Charcot-Marie-Tooth disease type 2F - - - Preferential parent - - - - - - 99942 - Autosomal dominant Charcot-Marie-Tooth disease type 2I - - - Preferential parent - - - - - - 99943 - Autosomal dominant Charcot-Marie-Tooth disease type 2J - - - Preferential parent - - - - - - 99944 - Autosomal dominant Charcot-Marie-Tooth disease type 2K - - - Preferential parent - - - - - - 99945 - Autosomal dominant Charcot-Marie-Tooth disease type 2L - - - Preferential parent - - - - - - 99946 - Autosomal dominant Charcot-Marie-Tooth disease type 2A1 - - - Preferential parent - - - - - - 99947 - Autosomal dominant Charcot-Marie-Tooth disease type 2A2 - - - Preferential parent - - - - - - 99948 - Charcot-Marie-Tooth disease type 4A - - - Preferential parent - - - - - - 99949 - Charcot-Marie-Tooth disease type 4C - - - Preferential parent - - - - - - 99950 - Charcot-Marie-Tooth disease type 4D - - - Preferential parent - - - - - - 99951 - Charcot-Marie-Tooth disease type 4E - - - Preferential parent - - - - - - 99952 - Charcot-Marie-Tooth disease type 4F - - - Preferential parent - - - - - - 99953 - Charcot-Marie-Tooth disease type 4G - - - Preferential parent - - - - - - 99954 - Charcot-Marie-Tooth disease type 4H - - - Preferential parent - - - - - - 99955 - Charcot-Marie-Tooth disease type 4B1 - - - Preferential parent - - - - - - 99956 - Charcot-Marie-Tooth disease type 4B2 - - - Preferential parent - - - - - - 99965 - O'Sullivan-McLeod syndrome - - - Preferential parent - - - - - - 99994 - Complex regional pain syndrome type 2 - - - Preferential parent - - - - - - 99995 - Complex regional pain syndrome type 1 - - - Preferential parent - - - - - - 100000 - Reticular perineurioma - - - Preferential parent - - - - - - 100001 - Sclerosing perineurioma - - - Preferential parent - - - - - - 100002 - Extraneural perineurioma - - - Preferential parent - - - - - - 100003 - Intraneural perineurioma - - - Preferential parent - - - - - - 100006 - ABeta amyloidosis, Dutch type - - - Preferential parent - - - - - - 100008 - ACys amyloidosis - - - Preferential parent - - - - - - 100043 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - - - Preferential parent - - - - - - 100044 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - - - Preferential parent - - - - - - 100045 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - - - Preferential parent - - - - - - 100046 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - - - Preferential parent - - - - - - 100069 - Semantic dementia - - - Preferential parent - - - - - - 100070 - Progressive non-fluent aphasia - - - Preferential parent - - - - - - 100979 - Autosomal dominant complex spastic paraplegia - - - Preferential parent - - - - - - 100980 - Autosomal dominant pure spastic paraplegia - - - Preferential parent - - - - - - 100981 - Autosomal recessive complex spastic paraplegia - - - Preferential parent - - - - - - 100982 - Autosomal recessive pure spastic paraplegia - - - Preferential parent - - - - - - 100984 - Autosomal dominant spastic paraplegia type 3 - - - Preferential parent - - - - - - 100985 - Autosomal dominant spastic paraplegia type 4 - - - Preferential parent - - - - - - 100986 - Autosomal recessive spastic paraplegia type 5A - - - Preferential parent - - - - - - 100988 - Autosomal dominant spastic paraplegia type 6 - - - Preferential parent - - - - - - 100989 - Autosomal dominant spastic paraplegia type 8 - - - Preferential parent - - - - - - 100991 - Autosomal dominant spastic paraplegia type 10 - - - Preferential parent - - - - - - 100993 - Autosomal dominant spastic paraplegia type 12 - - - Preferential parent - - - - - - 100994 - Autosomal dominant spastic paraplegia type 13 - - - Preferential parent - - - - - - 100995 - Autosomal recessive spastic paraplegia type 14 - - - Preferential parent - - - - - - 100996 - Autosomal recessive spastic paraplegia type 15 - - - Preferential parent - - - - - - 100997 - X-linked spastic paraplegia type 16 - - - Preferential parent - - - - - - 100998 - Autosomal dominant spastic paraplegia type 17 - - - Preferential parent - - - - - - 100999 - Autosomal dominant spastic paraplegia type 19 - - - Preferential parent - - - - - - 101000 - Autosomal recessive spastic paraplegia type 20 - - - Preferential parent - - - - - - 101001 - Autosomal recessive spastic paraplegia type 21 - - - Preferential parent - - - - - - 101003 - Autosomal recessive spastic paraplegia type 23 - - - Preferential parent - - - - - - 101004 - Autosomal recessive spastic paraplegia type 24 - - - Preferential parent - - - - - - 101005 - Autosomal recessive spastic paraplegia type 25 - - - Preferential parent - - - - - - 101006 - Autosomal recessive spastic paraplegia type 26 - - - Preferential parent - - - - - - 101007 - Autosomal recessive spastic paraplegia type 27 - - - Preferential parent - - - - - - 101008 - Autosomal recessive spastic paraplegia type 28 - - - Preferential parent - - - - - - 101009 - Autosomal dominant spastic paraplegia type 29 - - - Preferential parent - - - - - - 101010 - Autosomal spastic paraplegia type 30 - - - Preferential parent - - - - - - 101011 - Autosomal dominant spastic paraplegia type 31 - - - Preferential parent - - - - - - 101046 - Epilepsy with auditory features - - - Preferential parent - - - - - - 101075 - X-linked Charcot-Marie-Tooth disease type 1 - - - Preferential parent - - - - - - 101076 - X-linked Charcot-Marie-Tooth disease type 2 - - - Preferential parent - - - - - - 101077 - X-linked Charcot-Marie-Tooth disease type 3 - - - Preferential parent - - - - - - 101078 - X-linked Charcot-Marie-Tooth disease type 4 - - - Preferential parent - - - - - - 101081 - Charcot-Marie-Tooth disease type 1A - - - Preferential parent - - - - - - 101082 - Charcot-Marie-Tooth disease type 1B - - - Preferential parent - - - - - - 101083 - Charcot-Marie-Tooth disease type 1C - - - Preferential parent - - - - - - 101084 - Charcot-Marie-Tooth disease type 1D - - - Preferential parent - - - - - - 101085 - Charcot-Marie-Tooth disease type 1F - - - Preferential parent - - - - - - 101097 - Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - - - Preferential parent - - - - - - 101101 - Charcot-Marie-Tooth disease type 2B2 - - - Preferential parent - - - - - - 101102 - Charcot-Marie-Tooth disease type 2H - - - Preferential parent - - - - - - 101108 - Spinocerebellar ataxia type 23 - - - Preferential parent - - - - - - 101109 - Spinocerebellar ataxia type 28 - - - Preferential parent - - - - - - 101110 - Spinocerebellar ataxia type 20 - - - Preferential parent - - - - - - 101111 - Spinocerebellar ataxia type 25 - - - Preferential parent - - - - - - 101112 - Spinocerebellar ataxia type 26 - - - Preferential parent - - - - - - 101150 - Autosomal recessive dopa-responsive dystonia - - - Preferential parent - - - - - - 101685 - Rare non-syndromic intellectual disability - - - Preferential parent - - - - - - 101998 - Rare epilepsy - - - Preferential parent - - - - - - 102000 - Medullar disease - - - Preferential parent - - - - - - 102002 - Rare ataxia - - - Preferential parent - - - - - - 102003 - Rare movement disorder - - - Preferential parent - - - - - - 102005 - Brain inflammatory disease - - - Preferential parent - - - - - - 102006 - Neurovascular malformation - - - Preferential parent - - - - - - 102012 - Pure hereditary spastic paraplegia - - - Preferential parent - - - - - - 102013 - Complex hereditary spastic paraplegia - - - Preferential parent - - - - - - 102014 - Autosomal dominant limb-girdle muscular dystrophy - - - Preferential parent - - - - - - 102015 - Autosomal recessive limb-girdle muscular dystrophy - - - Preferential parent - - - - - - 102369 - Rare syndromic intellectual disability - - - Preferential parent - - - - - - 137577 - Neonatal hypoxic and ischemic brain injury - - - Preferential parent - - - - - - 137639 - Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome - - - Preferential parent - - - - - - 137754 - Aminoacylase 1 deficiency - - - Preferential parent - - - - - - 137817 - Arachnoiditis - - - Preferential parent - - - - - - 137867 - Madras motor neuron disease - - - Preferential parent - - - - - - 137929 - Neonatal brainstem dysfunction - - - Preferential parent - - - - - - 139406 - Encephalopathy due to prosaposin deficiency - - - Preferential parent - - - - - - 139417 - Acute transverse myelitis - - - Preferential parent - - - - - - 139423 - Idiopathic acute transverse myelitis - - - Preferential parent - - - - - - 139426 - Perioral myoclonia with absences - - - Preferential parent - - - - - - 139431 - Epilepsy with eyelid myoclonia - - - Preferential parent - - - - - - 139441 - Hypomyelination with atrophy of basal ganglia and cerebellum - - - Preferential parent - - - - - - 139444 - Leukoencephalopathy with bilateral anterior temporal lobe cysts - - - Preferential parent - - - - - - 139447 - Progressive cavitating leukoencephalopathy - - - Preferential parent - - - - - - 139480 - Autosomal recessive spastic paraplegia type 39 - - - Preferential parent - - - - - - 139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - - Preferential parent - - - - - - 139512 - Neuropathy with hearing impairment - - - Preferential parent - - - - - - 139515 - Charcot-Marie-Tooth disease type 4J - - - Preferential parent - - - - - - 139518 - Distal hereditary motor neuropathy type 1 - - - Preferential parent - - - - - - 139525 - Distal hereditary motor neuropathy type 2 - - - Preferential parent - - - - - - 139536 - Distal hereditary motor neuropathy type 5 - - - Preferential parent - - - - - - 139547 - Distal spinal muscular atrophy type 3 - - - Preferential parent - - - - - - 139552 - Distal hereditary motor neuropathy, Jerash type - - - Preferential parent - - - - - - 139557 - X-linked distal spinal muscular atrophy type 3 - - - Preferential parent - - - - - - 139564 - Hereditary sensory and autonomic neuropathy type 1B - - - Preferential parent - - - - - - 139573 - Hereditary sensory and autonomic neuropathy with deafness and global delay - - - Preferential parent - - - - - - 139578 - Mutilating hereditary sensory neuropathy with spastic paraplegia - - - Preferential parent - - - - - - 139583 - X-linked hereditary sensory and autonomic neuropathy with deafness - - - Preferential parent - - - - - - 139589 - Distal hereditary motor neuropathy type 7 - - - Preferential parent - - - - - - 140453 - Autosomal dominant hereditary demyelinating motor and sensory neuropathy - - - Preferential parent - - - - - - 140456 - Autosomal dominant hereditary axonal motor and sensory neuropathy - - - Preferential parent - - - - - - 140459 - Autosomal recessive hereditary demyelinating motor and sensory neuropathy - - - Preferential parent - - - - - - 140465 - Autosomal dominant distal hereditary motor neuropathy - - - Preferential parent - - - - - - 140468 - Autosomal recessive distal hereditary motor neuropathy - - - Preferential parent - - - - - - 140471 - Hereditary sensory and autonomic neuropathy - - - Preferential parent - - - - - - 140474 - Autosomal dominant hereditary sensory and autonomic neuropathy - - - Preferential parent - - - - - - 140477 - Autosomal recessive hereditary sensory and autonomic neuropathy - - - Preferential parent - - - - - - 140481 - Autosomal dominant slowed nerve conduction velocity - - - Preferential parent - - - - - - 140922 - Titin-related limb-girdle muscular dystrophy R10 - - - Preferential parent - - - - - - 140927 - Self-limited neonatal-infantile epilepsy - - - Preferential parent - - - - - - 140989 - Primary angiitis of the central nervous system - - - Preferential parent - - - - - - 156159 - Isolated dystonia - - - Preferential parent - - - - - - 157713 - Congenital or early infantile CACH syndrome - - - Preferential parent - - - - - - 157716 - Late infantile CACH syndrome - - - Preferential parent - - - - - - 157719 - Juvenile or adult CACH syndrome - - - Preferential parent - - - - - - 157820 - Cold-induced sweating syndrome - - - Preferential parent - - - - - - 157823 - Klüver-Bucy syndrome - - - Preferential parent - - - - - - 157835 - Paroxysmal hemicrania - - - Preferential parent - - - - - - 157843 - Trigeminal autonomic cephalalgia - - - Preferential parent - - - - - - 157846 - Neuroferritinopathy - - - Preferential parent - - - - - - 157850 - Pantothenate kinase-associated neurodegeneration - - - Preferential parent - - - - - - 157941 - Huntington disease-like 1 - - - Preferential parent - - - - - - 157946 - Huntington disease-like 3 - - - Preferential parent - - - - - - 157973 - Congenital muscular dystrophy due to LMNA mutation - - - Preferential parent - - - - - - 158124 - Genetic dementia - - - Preferential parent - - - - - - 158266 - Huntington disease-like syndrome - - - Preferential parent - - - - - - 163681 - CNTNAP2-related developmental and epileptic encephalopathy - - - Preferential parent - - - - - - 163684 - Leukoencephalopathy-dystonia-motor neuropathy syndrome - - - Preferential parent - - - - - - 163696 - Action myoclonus-renal failure syndrome - - - Preferential parent - - - - - - 163703 - Febrile infection-related epilepsy syndrome - - - Preferential parent - - - - - - 163708 - Cryptogenic late-onset epileptic spasms - - - Preferential parent - - - - - - 163717 - Familial mesial temporal lobe epilepsy - - - Preferential parent - - - - - - 163727 - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome - - - Preferential parent - - - - - - 163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - - Preferential parent - - - - - - 163921 - Posttransplant acute limbic encephalitis - - - Preferential parent - - - - - - 164736 - Familial advanced sleep-phase syndrome - - - Preferential parent - - - - - - 166105 - FASTKD2-related infantile mitochondrial encephalomyopathy - - - Preferential parent - - - - - - 166308 - Benign infantile focal epilepsy with midline spikes and waves during sleep - - - Preferential parent - - - - - - 166311 - Benign partial infantile seizures - - - Preferential parent - - - - - - 166409 - Photosensitive occipital lobe epilepsy - - - Preferential parent - - - - - - 166412 - Hot water reflex epilepsy - - - Preferential parent - - - - - - 166415 - Audiogenic seizures - - - Preferential parent - - - - - - 166418 - Eating reflex epilepsy - - - Preferential parent - - - - - - 166421 - Orgasm-induced seizures - - - Preferential parent - - - - - - 166424 - Thinking seizures - - - Preferential parent - - - - - - 166427 - Startle epilepsy - - - Preferential parent - - - - - - 166430 - Micturation-induced seizures - - - Preferential parent - - - - - - 166433 - Epilepsy with reading-induced seizures - - - Preferential parent - - - - - - 166463 - Epilepsy syndrome - - - Preferential parent - - - - - - 166466 - Neurocutaneous syndrome with epilepsy - - - Preferential parent - - - - - - 166469 - Chromosomal anomaly with epilepsy as a major feature - - - Preferential parent - - - - - - 166472 - Monogenic disease with epilepsy - - - Preferential parent - - - - - - 166475 - Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes - - - Preferential parent - - - - - - 166478 - Cerebral malformation with epilepsy - - - Preferential parent - - - - - - 166481 - Metabolic diseases with epilepsy - - - Preferential parent - - - - - - 166484 - Inflammatory and autoimmune disease with epilepsy - - - Preferential parent - - - - - - 166487 - Cerebral diseases of vascular origin with epilepsy - - - Preferential parent - - - - - - 166490 - Infectious disease with epilepsy - - - Preferential parent - - - - - - 168572 - Native American myopathy - - - Preferential parent - - - - - - 168598 - Methionine adenosyltransferase I/III deficiency - - - Preferential parent - - - - - - 168778 - Rare pervasive developmental disorder - - - Preferential parent - - - - - - 168782 - Childhood disintegrative disorder - - - Preferential parent - - - - - - 169186 - Autosomal recessive centronuclear myopathy - - - Preferential parent - - - - - - 169189 - Autosomal dominant centronuclear myopathy - - - Preferential parent - - - - - - 171430 - Severe congenital nemaline myopathy - - - Preferential parent - - - - - - 171433 - Intermediate nemaline myopathy - - - Preferential parent - - - - - - 171436 - Typical nemaline myopathy - - - Preferential parent - - - - - - 171439 - Childhood-onset nemaline myopathy - - - Preferential parent - - - - - - 171442 - Adult-onset nemaline myopathy - - - Preferential parent - - - - - - 171445 - Muscle filaminopathy - - - Preferential parent - - - - - - 171607 - X-linked spastic paraplegia type 34 - - - Preferential parent - - - - - - 171612 - Autosomal dominant spastic paraplegia type 37 - - - Preferential parent - - - - - - 171617 - Autosomal dominant spastic paraplegia type 38 - - - Preferential parent - - - - - - 171622 - Autosomal recessive spastic paraplegia type 32 - - - Preferential parent - - - - - - 171629 - Autosomal recessive spastic paraplegia type 35 - - - Preferential parent - - - - - - 171690 - Metabolic myopathy due to lactate transporter defect - - - Preferential parent - - - - - - 171695 - Parkinsonian-pyramidal syndrome - - - Preferential parent - - - - - - 171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - - Preferential parent - - - - - - 171863 - Autosomal dominant spastic paraplegia type 42 - - - Preferential parent - - - - - - 171881 - Cap myopathy - - - Preferential parent - - - - - - 171886 - Cylindrical spirals myopathy - - - Preferential parent - - - - - - 171889 - Myopathy with hexagonally cross-linked tubular arrays - - - Preferential parent - - - - - - 172976 - Congenital myopathy with cores - - - Preferential parent - - - - - - 178145 - Moderate multiminicore disease with hand involvement - - - Preferential parent - - - - - - 178148 - Antenatal multiminicore disease with arthrogryposis multiplex congenita - - - Preferential parent - - - - - - 178400 - Distal myopathy with anterior tibial onset - - - Preferential parent - - - - - - 178461 - X-linked myopathy with postural muscle atrophy - - - Preferential parent - - - - - - 178464 - Hereditary myopathy with early respiratory failure - - - Preferential parent - - - - - - 178469 - Autosomal dominant non-syndromic intellectual disability - - - Preferential parent - - - - - - 178506 - Brain calcification, Rajab type - - - Preferential parent - - - - - - 178509 - Perry syndrome - - - Preferential parent - - - - - - 180772 - Rare disease with autism - - - Preferential parent - - - - - - 182058 - Primary orthostatic hypotension - - - Preferential parent - - - - - - 182064 - Rare neuroinflammatory or neuroimmunological disease - - - Preferential parent - - - - - - 182070 - Rare neurodegenerative disease - - - Preferential parent - - - - - - 182079 - ARX-related epileptic encephalopathy - - - Preferential parent - - - - - - 182083 - Channelopathy with epilepsy - - - Preferential parent - - - - - - 182086 - Acquired peripheral neuropathy - - - Preferential parent - - - - - - 183497 - Genetic neuromuscular disease - - - Preferential parent - - - - - - 183500 - Genetic neurodegenerative disease - - - Preferential parent - - - - - - 183503 - Genetic central nervous system and retinal vascular disease - - - Preferential parent - - - - - - 183509 - Rare genetic headache - - - Preferential parent - - - - - - 183512 - Rare genetic epilepsy - - - Preferential parent - - - - - - 183515 - Rare genetic medullar disease - - - Preferential parent - - - - - - 183518 - Hereditary ataxia - - - Preferential parent - - - - - - 183521 - Rare genetic movement disorder - - - Preferential parent - - - - - - 183757 - Rare genetic intellectual disability - - - Preferential parent - - - - - - 183763 - Rare genetic syndromic intellectual disability - - - Preferential parent - - - - - - 199282 - Harlequin syndrome - - - Preferential parent - - - - - - 199329 - Congenital myopathy, Paradas type - - - Preferential parent - - - - - - 199340 - Muscular dystrophy, Selcen type - - - Preferential parent - - - - - - 199343 - EAST syndrome - - - Preferential parent - - - - - - 199348 - Thiamine-responsive encephalopathy - - - Preferential parent - - - - - - 199351 - Adult-onset dystonia-parkinsonism - - - Preferential parent - - - - - - 199354 - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy - - - Preferential parent - - - - - - 199627 - Atypical autism - - - Preferential parent - - - - - - 199642 - Isolated congenital microcephaly - - - Preferential parent - - - - - - 200037 - Paroxysmal dystonia - - - Preferential parent - - - - - - 206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - - Preferential parent - - - - - - 206549 - Anoctamin-5-related limb-girdle muscular dystrophy R12 - - - Preferential parent - - - - - - 206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - - Preferential parent - - - - - - 206559 - POMT2-related limb-girdle muscular dystrophy R14 - - - Preferential parent - - - - - - 206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - - Preferential parent - - - - - - 206569 - Immune-mediated necrotizing myopathy - - - Preferential parent - - - - - - 206572 - Overlap myositis - - - Preferential parent - - - - - - 206575 - Rippling muscle disease with myasthenia gravis - - - Preferential parent - - - - - - 206580 - Autosomal recessive lower motor neuron disease with childhood onset - - - Preferential parent - - - - - - 206586 - Neurolymphomatosis - - - Preferential parent - - - - - - 206594 - Subacute inflammatory demyelinating polyneuropathy - - - Preferential parent - - - - - - 206599 - Isolated asymptomatic elevation of creatine phosphokinase - - - Preferential parent - - - - - - 206634 - Genetic skeletal muscle disease - - - Preferential parent - - - - - - 206638 - Acquired skeletal muscle disease - - - Preferential parent - - - - - - 206644 - Progressive muscular dystrophy - - - Preferential parent - - - - - - 206647 - Myotonic dystrophy - - - Preferential parent - - - - - - 206650 - Autosomal dominant distal myopathy - - - Preferential parent - - - - - - 206653 - Autosomal recessive distal myopathy - - - Preferential parent - - - - - - 206656 - Non-dystrophic myopathy - - - Preferential parent - - - - - - 206662 - Inclusion myopathy - - - Preferential parent - - - - - - 206701 - Bulbospinal muscular atrophy - - - Preferential parent - - - - - - 206704 - Bulbospinal muscular atrophy of childhood - - - Preferential parent - - - - - - 206707 - Bulbospinal muscular atrophy of adult - - - Preferential parent - - - - - - 206710 - Generalized bulbospinal muscular atrophy - - - Preferential parent - - - - - - 206953 - Muscular lipidosis - - - Preferential parent - - - - - - 206959 - Muscular glycogenosis - - - Preferential parent - - - - - - 206966 - Mitochondrial myopathy - - - Preferential parent - - - - - - 206970 - Myotonic syndrome - - - Preferential parent - - - - - - 206973 - Congenital myotonia - - - Preferential parent - - - - - - 206976 - Periodic paralysis - - - Preferential parent - - - - - - 207012 - Spinal muscular atrophy associated with central nervous system anomaly - - - Preferential parent - - - - - - 207015 - Rare hereditary disease with peripheral neuropathy - - - Preferential parent - - - - - - 207018 - Rare hereditary metabolic disease with peripheral neuropathy - - - Preferential parent - - - - - - 207021 - Rare hereditary systemic disease with peripheral neuropathy - - - Preferential parent - - - - - - 207025 - Rare hereditary neurologic disease with peripheral neuropathy - - - Preferential parent - - - - - - 207028 - Cerebellar ataxia with peripheral neuropathy - - - Preferential parent - - - - - - 207038 - Acute and subacute inflammatory demyelinating polyneuropathy - - - Preferential parent - - - - - - 207049 - Qualitative or quantitative protein defects in neuromuscular diseases - - - Preferential parent - - - - - - 207052 - Qualitative or quantitative defects of sarcoglycan - - - Preferential parent - - - - - - 207060 - Qualitative or quantitative defects of alpha-sarcoglycan - - - Preferential parent - - - - - - 207063 - Qualitative or quantitative defects of beta-sarcoglycan - - - Preferential parent - - - - - - 207067 - Qualitative or quantitative defects of gamma-sarcoglycan - - - Preferential parent - - - - - - 207070 - Qualitative or quantitative defects of delta-sarcoglycan - - - Preferential parent - - - - - - 207073 - Qualitative or quantitative defects of dysferlin - - - Preferential parent - - - - - - 207078 - Qualitative or quantitative defects of caveolin-3 - - - Preferential parent - - - - - - 207085 - Qualitative or quantitative defects of dystrophin - - - Preferential parent - - - - - - 207090 - Qualitative or quantitative defects of collagen 6 - - - Preferential parent - - - - - - 207094 - Laminin subunit alpha 2-related muscular dystrophy - - - Preferential parent - - - - - - 207098 - Qualitative or quantitative defects of integrin alpha-7 - - - Preferential parent - - - - - - 207101 - Qualitative or quantitative defects of perlecan - - - Preferential parent - - - - - - 207104 - Qualitative or quantitative defects of calpain - - - Preferential parent - - - - - - 207107 - Qualitative or quantitative defects of TRIM32 - - - Preferential parent - - - - - - 207110 - Qualitative or quantitative defects of myotubularin - - - Preferential parent - - - - - - 207113 - Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan - - - Preferential parent - - - - - - 207119 - Qualitative or quantitative defects of FKRP - - - Preferential parent - - - - - - 207122 - Qualitative or quantitative defects of fukutin - - - Preferential parent - - - - - - 208508 - Autosomal dominant cerebellar ataxia type II - - - Preferential parent - - - - - - 208513 - Spinocerebellar ataxia type 29 - - - Preferential parent - - - - - - 208974 - Chronic acquired demyelinating polyneuropathy - - - Preferential parent - - - - - - 208978 - Chronic polyradiculoneuropathy - - - Preferential parent - - - - - - 208984 - Acquired sensory ganglionopathy - - - Preferential parent - - - - - - 208989 - Non-paraneoplastic sensory ganglionopathy - - - Preferential parent - - - - - - 208999 - Paraneoplastic sensory ganglionopathy - - - Preferential parent - - - - - - 209004 - Polyneuropathy associated with IgM monoclonal gammopathy - - - Preferential parent - - - - - - 209010 - Peripheral neuropathy associated with monoclonal gammopathy - - - Preferential parent - - - - - - 209013 - Acquired amyloid peripheral neuropathy - - - Preferential parent - - - - - - 209024 - Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase - - - Preferential parent - - - - - - 209027 - Qualitative or quantitative defects of protein glycosyltransferase-like - - - Preferential parent - - - - - - 209030 - Qualitative or quantitative defects of protein O-mannosyltransferase 1 - - - Preferential parent - - - - - - 209033 - Qualitative or quantitative defects of protein O-mannosyltransferase 2 - - - Preferential parent - - - - - - 209038 - Qualitative or quantitative defects of myofibrillar proteins - - - Preferential parent - - - - - - 209041 - Qualitative or quantitative defects of desmin - - - Preferential parent - - - - - - 209044 - Qualitative or quantitative defects of alphaB-cristallin - - - Preferential parent - - - - - - 209047 - Qualitative or quantitative defects of filamin C - - - Preferential parent - - - - - - 209050 - Qualitative or quantitative defects of protein ZASP - - - Preferential parent - - - - - - 209053 - Qualitative or quantitative defects of titin - - - Preferential parent - - - - - - 209056 - Qualitative or quantitative defects of telethonin - - - Preferential parent - - - - - - 209059 - Qualitative or quantitative defects of alpha-actin - - - Preferential parent - - - - - - 209182 - Qualitative or quantitative defects of nebulin - - - Preferential parent - - - - - - 209185 - Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) - - - Preferential parent - - - - - - 209188 - Qualitative or quantitative defects of emerin - - - Preferential parent - - - - - - 209193 - Qualitative or quantitative defects of selenoprotein N1 - - - Preferential parent - - - - - - 209196 - Qualitative or quantitative defects of plectin - - - Preferential parent - - - - - - 209199 - Qualitative or quantitative defects of protein SERCA1 - - - Preferential parent - - - - - - 209203 - Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - - - - Preferential parent - - - - - - 209224 - Myotilinopathy - - - Preferential parent - - - - - - 209335 - Autosomal dominant adult-onset proximal spinal muscular atrophy - - - Preferential parent - - - - - - 209341 - DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - - Preferential parent - - - - - - 209370 - MECP2-related severe neonatal encephalopathy - - - Preferential parent - - - - - - 209908 - Isolated childhood apraxia of speech - - - Preferential parent - - - - - - 209951 - Autosomal spastic paraplegia type 18 - - - Preferential parent - - - - - - 209967 - Episodic ataxia type 6 - - - Preferential parent - - - - - - 209970 - Episodic ataxia type 7 - - - Preferential parent - - - - - - 209973 - Benign nocturnal alternating hemiplegia of childhood - - - Preferential parent - - - - - - 209978 - Alternating hemiplegia - - - Preferential parent - - - - - - 210128 - Urocanic aciduria - - - Preferential parent - - - - - - 210141 - Inherited congenital spastic tetraplegia - - - Preferential parent - - - - - - 210163 - Congenital lethal myopathy, Compton-North type - - - Preferential parent - - - - - - 210571 - Dystonia 16 - - - Preferential parent - - - - - - 211017 - Spinocerebellar ataxia type 30 - - - Preferential parent - - - - - - 211037 - Autosomal dominant proximal spinal muscular atrophy - - - Preferential parent - - - - - - 211047 - Specific learning disability - - - Preferential parent - - - - - - 211053 - Specific language disorder - - - Preferential parent - - - - - - 211062 - Hereditary episodic ataxia - - - Preferential parent - - - - - - 211067 - Episodic ataxia type 5 - - - Preferential parent - - - - - - 216866 - Classic pantothenate kinase-associated neurodegeneration - - - Preferential parent - - - - - - 216873 - Atypical pantothenate kinase-associated neurodegeneration - - - Preferential parent - - - - - - 217012 - Spinocerebellar ataxia type 31 - - - Preferential parent - - - - - - 217055 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - - - Preferential parent - - - - - - 217253 - NMDA receptor encephalitis - - - Preferential parent - - - - - - 217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - - Preferential parent - - - - - - 217396 - Progressive polyneuropathy with bilateral striatal necrosis - - - Preferential parent - - - - - - 217399 - Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation - - - Preferential parent - - - - - - 221074 - Marchiafava-Bignami disease - - - Preferential parent - - - - - - 221078 - Combined hyperactive dysfunction syndrome of the cranial nerves - - - Preferential parent - - - - - - 221083 - Hemifacial spasm - - - Preferential parent - - - - - - 221091 - Trigeminal neuralgia - - - Preferential parent - - - - - - 221098 - Glossopharyngeal neuralgia - - - Preferential parent - - - - - - 221109 - Cranial neuralgia - - - Preferential parent - - - - - - 221114 - Acquired peripheral movement disorder - - - Preferential parent - - - - - - 221117 - Gerstmann syndrome - - - Preferential parent - - - - - - 225681 - Lysosomal disease with epilepsy - - - Preferential parent - - - - - - 225686 - Peroxisomal disease with epilepsy - - - Preferential parent - - - - - - 225689 - Amino acid or protein metabolism disease with epilepsy - - - Preferential parent - - - - - - 225692 - Metal transport or utilization disorder with epilepsy - - - Preferential parent - - - - - - 225696 - Energy metabolism disorder with epilepsy - - - Preferential parent - - - - - - 225700 - Mitochondrial disease with epilepsy - - - Preferential parent - - - - - - 225703 - Mitochondrial disease with peripheral neuropathy - - - Preferential parent - - - - - - 225707 - Metabolic neurotransmission anomaly with epilepsy - - - Preferential parent - - - - - - 225710 - Sterol metabolism disorder with epilepsy - - - Preferential parent - - - - - - 225713 - Other metabolic disease with epilepsy - - - Preferential parent - - - - - - 227510 - Multiple system atrophy, cerebellar type - - - Preferential parent - - - - - - 228145 - Multiple sclerosis variant - - - Preferential parent - - - - - - 228157 - Marburg acute multiple sclerosis - - - Preferential parent - - - - - - 228165 - Baló concentric sclerosis - - - Preferential parent - - - - - - 228169 - Autosomal dominant striatal neurodegeneration - - - Preferential parent - - - - - - 228174 - Autosomal dominant Charcot-Marie-Tooth disease type 2N - - - Preferential parent - - - - - - 228179 - Autosomal dominant Charcot-Marie-Tooth disease type 2M - - - Preferential parent - - - - - - 228329 - CLN1 disease - - - Preferential parent - - - - - - 228337 - CLN10 disease - - - Preferential parent - - - - - - 228343 - CLN4 disease - - - Preferential parent - - - - - - 228346 - CLN3 disease - - - Preferential parent - - - - - - 228349 - CLN2 disease - - - Preferential parent - - - - - - 228354 - CLN8 disease - - - Preferential parent - - - - - - 228360 - CLN5 disease - - - Preferential parent - - - - - - 228363 - CLN6 disease - - - Preferential parent - - - - - - 228366 - CLN7 disease - - - Preferential parent - - - - - - 228374 - Charcot-Marie-Tooth disease type 2B5 - - - Preferential parent - - - - - - 231013 - Congenital trigeminal anesthesia - - - Preferential parent - - - - - - 231160 - Familial cerebral saccular aneurysm - - - Preferential parent - - - - - - 231413 - Variant of Guillain-Barré syndrome - - - Preferential parent - - - - - - 231416 - Regional variant of Guillain-Barré syndrome - - - Preferential parent - - - - - - 231419 - Functional variant of Guillain-Barré syndrome - - - Preferential parent - - - - - - 231426 - Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome - - - Preferential parent - - - - - - 231445 - Paraparetic variant of Guillain-Barré syndrome - - - Preferential parent - - - - - - 231450 - Acute pure sensory neuropathy - - - Preferential parent - - - - - - 231457 - Acute pandysautonomia - - - Preferential parent - - - - - - 231466 - Acute sensory ataxic neuropathy - - - Preferential parent - - - - - - 238329 - Severe X-linked mitochondrial encephalomyopathy - - - Preferential parent - - - - - - 238455 - Infantile dystonia-parkinsonism - - - Preferential parent - - - - - - 238606 - Primary orthostatic tremor - - - Preferential parent - - - - - - 238624 - Idiopathic intracranial hypertension - - - Preferential parent - - - - - - 238722 - Familial congenital mirror movements - - - Preferential parent - - - - - - 240071 - Classic progressive supranuclear palsy syndrome - - - Preferential parent - - - - - - 240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - - Preferential parent - - - - - - 240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - - Preferential parent - - - - - - 240103 - Progressive supranuclear palsy-corticobasal syndrome - - - Preferential parent - - - - - - 240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - - Preferential parent - - - - - - 247198 - Progressive cerebello-cerebral atrophy - - - Preferential parent - - - - - - 247234 - Sporadic adult-onset ataxia of unknown etiology - - - Preferential parent - - - - - - 247239 - Non-hereditary degenerative ataxia - - - Preferential parent - - - - - - 247242 - Acquired ataxia - - - Preferential parent - - - - - - 247245 - Superficial siderosis - - - Preferential parent - - - - - - 247604 - Juvenile primary lateral sclerosis - - - Preferential parent - - - - - - 247691 - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - - - Preferential parent - - - - - - 247718 - Inflammatory myopathy with abundant macrophages - - - Preferential parent - - - - - - 247724 - Idiopathic eosinophilic myositis - - - Preferential parent - - - - - - 247765 - X-linked cerebellar ataxia - - - Preferential parent - - - - - - 247815 - Autosomal recessive ataxia due to PEX10 deficiency - - - Preferential parent - - - - - - 248111 - Juvenile Huntington disease - - - Preferential parent - - - - - - 250831 - Logopenic progressive aphasia - - - Preferential parent - - - - - - 250977 - AICA-ribosiduria - - - Preferential parent - - - - - - 251282 - Autosomal dominant spastic ataxia type 1 - - - Preferential parent - - - - - - 251347 - Ataxia-telangiectasia-like disorder - - - Preferential parent - - - - - - 252190 - Inherited nervous system cancer-predisposing syndrome - - - Preferential parent - - - - - - 252202 - Constitutional mismatch repair deficiency syndrome - - - Preferential parent - - - - - - 252206 - Melanoma and neural system tumor syndrome - - - Preferential parent - - - - - - 254334 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - - - Preferential parent - - - - - - 254343 - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - - Preferential parent - - - - - - 254361 - Plectin-related limb-girdle muscular dystrophy R17 - - - Preferential parent - - - - - - 254818 - Ataxia neuropathy spectrum - - - Preferential parent - - - - - - 261144 - FOXG1 syndrome due to 14q12 microdeletion - - - Preferential parent - - - - - - 263440 - Neuroacanthocytosis - - - Preferential parent - - - - - - 263516 - Progressive myoclonic epilepsy type 3 - - - Preferential parent - - - - - - 263662 - Familial multiple meningioma - - - Preferential parent - - - - - - 268129 - Spheroid body myopathy - - - Preferential parent - - - - - - 268337 - Autosomal recessive intermediate Charcot-Marie-Tooth disease - - - Preferential parent - - - - - - 268961 - Isolated focal cortical dysplasia type I - - - Preferential parent - - - - - - 268973 - Isolated focal cortical dysplasia type Ia - - - Preferential parent - - - - - - 268980 - Isolated focal cortical dysplasia type Ib - - - Preferential parent - - - - - - 268987 - Isolated focal cortical dysplasia type Ic - - - Preferential parent - - - - - - 268994 - Isolated focal cortical dysplasia type II - - - Preferential parent - - - - - - 269001 - Isolated focal cortical dysplasia type IIa - - - Preferential parent - - - - - - 269008 - Isolated focal cortical dysplasia type IIb - - - Preferential parent - - - - - - 275864 - Behavioral variant of frontotemporal dementia - - - Preferential parent - - - - - - 275872 - Frontotemporal dementia with motor neuron disease - - - Preferential parent - - - - - - 276058 - Genetic neurodegenerative disease with dementia - - - Preferential parent - - - - - - 276061 - Genetic frontotemporal degeneration with dementia - - - Preferential parent - - - - - - 276174 - Idiopathic recurrent stupor - - - Preferential parent - - - - - - 276183 - Spinocerebellar ataxia type 32 - - - Preferential parent - - - - - - 276193 - Spinocerebellar ataxia type 35 - - - Preferential parent - - - - - - 276198 - Spinocerebellar ataxia type 36 - - - Preferential parent - - - - - - 276238 - Machado-Joseph disease type 1 - - - Preferential parent - - - - - - 276241 - Machado-Joseph disease type 2 - - - Preferential parent - - - - - - 276244 - Machado-Joseph disease type 3 - - - Preferential parent - - - - - - 276429 - Hypnic headache - - - Preferential parent - - - - - - 276435 - Lower motor neuron syndrome with late-adult onset - - - Preferential parent - - - - - - 280210 - Pelizaeus-Merzbacher disease, connatal form - - - Preferential parent - - - - - - 280219 - Pelizaeus-Merzbacher disease, classic form - - - Preferential parent - - - - - - 280224 - Pelizaeus-Merzbacher disease, transitional form - - - Preferential parent - - - - - - 280229 - Pelizaeus-Merzbacher disease in female carriers - - - Preferential parent - - - - - - 280234 - Null syndrome - - - Preferential parent - - - - - - 280282 - Pelizaeus-Merzbacher-like disease due to GJC2 mutation - - - Preferential parent - - - - - - 280288 - Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - - - Preferential parent - - - - - - 280293 - Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - - - Preferential parent - - - - - - 280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - - Preferential parent - - - - - - 280397 - Familial Alzheimer-like prion disease - - - Preferential parent - - - - - - 280400 - Inherited human prion disease - - - Preferential parent - - - - - - 280553 - Fatal infantile hypertonic myofibrillar myopathy - - - Preferential parent - - - - - - 280598 - Hereditary sensorimotor neuropathy with hyperelastic skin - - - Preferential parent - - - - - - 280620 - Progressive myoclonic epilepsy type 6 - - - Preferential parent - - - - - - 280671 - Megaconial congenital muscular dystrophy - - - Preferential parent - - - - - - 282166 - Inherited Creutzfeldt-Jakob disease - - - Preferential parent - - - - - - 284232 - Autosomal dominant Charcot-Marie-Tooth disease type 2O - - - Preferential parent - - - - - - 284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - - Preferential parent - - - - - - 284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - - Preferential parent - - - - - - 284289 - Adult-onset autosomal recessive cerebellar ataxia - - - Preferential parent - - - - - - 284324 - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - - Preferential parent - - - - - - 284332 - Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - - - Preferential parent - - - - - - 284388 - Reversible cerebral vasoconstriction syndrome - - - Preferential parent - - - - - - 284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - - Preferential parent - - - - - - 284448 - CLIPPERS - - - Preferential parent - - - - - - 284786 - Qualitative or quantitative defects of troponin - - - Preferential parent - - - - - - 284790 - Qualitative or quantitative defects of tropomyosin - - - Preferential parent - - - - - - 289290 - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - - Preferential parent - - - - - - 289377 - Early-onset myopathy with fatal cardiomyopathy - - - Preferential parent - - - - - - 289380 - Myosclerosis - - - Preferential parent - - - - - - 289494 - 4H leukodystrophy - - - Preferential parent - - - - - - 289560 - Mitochondrial membrane protein-associated neurodegeneration - - - Preferential parent - - - - - - 289573 - Multiple mitochondrial dysfunctions syndrome - - - Preferential parent - - - - - - 289857 - Neonatal glycine encephalopathy - - - Preferential parent - - - - - - 289860 - Infantile glycine encephalopathy - - - Preferential parent - - - - - - 289863 - Atypical glycine encephalopathy - - - Preferential parent - - - - - - 293168 - Infantile-onset ascending hereditary spastic paralysis - - - Preferential parent - - - - - - 293181 - Epilepsy of infancy with migrating focal seizures - - - Preferential parent - - - - - - 300319 - Autosomal dominant Charcot-Marie-Tooth disease type 2P - - - Preferential parent - - - - - - 300605 - Juvenile amyotrophic lateral sclerosis - - - Preferential parent - - - - - - 300755 - Laminopathy with striated muscle involvement - - - Preferential parent - - - - - - 300758 - Laminopathy with peripheral neuropathy - - - Preferential parent - - - - - - 306511 - Autosomal recessive spastic paraplegia type 48 - - - Preferential parent - - - - - - 306547 - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - - Preferential parent - - - - - - 306577 - Hereditary sodium channelopathy-related small fibers neuropathy - - - Preferential parent - - - - - - 306666 - Rare parkinsonian syndrome due to neurodegenerative disease - - - Preferential parent - - - - - - 306669 - Hemiparkinsonism-hemiatrophy syndrome - - - Preferential parent - - - - - - 306674 - Kufor-Rakeb syndrome - - - Preferential parent - - - - - - 306679 - Rare parkinsonian syndrome due to intoxication - - - Preferential parent - - - - - - 306682 - Manganese poisoning - - - Preferential parent - - - - - - 306686 - Delayed encephalopathy due to carbon monoxide poisoning - - - Preferential parent - - - - - - 306692 - Cyanide-induced parkinsonism-dystonia - - - Preferential parent - - - - - - 306695 - Miscellaneous movement disorder due to neurodegenerative disease - - - Preferential parent - - - - - - 306708 - Frontotemporal neurodegeneration with movement disorder - - - Preferential parent - - - - - - 306712 - Rare tremor disorder - - - Preferential parent - - - - - - 306715 - Rare choreic movement disorder - - - Preferential parent - - - - - - 306719 - Neurodegenerative disease with chorea - - - Preferential parent - - - - - - 306727 - Postinfectious autoimmune disease with chorea - - - Preferential parent - - - - - - 306731 - Sydenham chorea - - - Preferential parent - - - - - - 306734 - Primary dystonia, DYT21 type - - - Preferential parent - - - - - - 306741 - Hemidystonia-hemiatrophy syndrome - - - Preferential parent - - - - - - 306747 - Rare myoclonus - - - Preferential parent - - - - - - 306750 - Primary myoclonus - - - Preferential parent - - - - - - 306753 - Rare disease with myoclonus as a major feature - - - Preferential parent - - - - - - 306756 - Epilepsy and/or ataxia with myoclonus as a major feature - - - Preferential parent - - - - - - 306759 - Non progressive epilepsy and/or ataxia with myoclonus as a major feature - - - Preferential parent - - - - - - 306765 - Motor stereotypies - - - Preferential parent - - - - - - 306768 - Rare paroxysmal movement disorder - - - Preferential parent - - - - - - 306773 - Hyperekplexia - - - Preferential parent - - - - - - 306776 - Sporadic hyperekplexia - - - Preferential parent - - - - - - 307052 - Rare genetic parkinsonian disorder - - - Preferential parent - - - - - - 307055 - Rare parkinsonian syndrome due to genetic neurodegenerative disease - - - Preferential parent - - - - - - 307058 - Miscellaneous movement disorder due to genetic neurodegenerative disease - - - Preferential parent - - - - - - 307061 - Rare genetic tremor disorder - - - Preferential parent - - - - - - 307064 - Rare genetic myoclonus - - - Preferential parent - - - - - - 307067 - Rare genetic disease with myoclonus as a major feature - - - Preferential parent - - - - - - 309256 - Metachromatic leukodystrophy, late infantile form - - - Preferential parent - - - - - - 309263 - Metachromatic leukodystrophy, juvenile form - - - Preferential parent - - - - - - 309271 - Metachromatic leukodystrophy, adult form - - - Preferential parent - - - - - - 313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - - Preferential parent - - - - - - 313808 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - - - Preferential parent - - - - - - 313838 - Coats plus syndrome - - - Preferential parent - - - - - - 313850 - Infantile cerebellar-retinal degeneration - - - Preferential parent - - - - - - 314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - - Preferential parent - - - - - - 314381 - Hereditary sensory and autonomic neuropathy type 6 - - - Preferential parent - - - - - - 314389 - Xq12-q13.3 duplication syndrome - - - Preferential parent - - - - - - 314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - - Preferential parent - - - - - - 314485 - Young adult-onset distal hereditary motor neuropathy - - - Preferential parent - - - - - - 314566 - Primary progressive apraxia of speech - - - Preferential parent - - - - - - 314572 - Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - - - Preferential parent - - - - - - 314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - - Preferential parent - - - - - - 314629 - CLN11 disease - - - Preferential parent - - - - - - 314632 - CLN12 disease - - - Preferential parent - - - - - - 314647 - Non-progressive cerebellar ataxia with intellectual disability - - - Preferential parent - - - - - - 314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - - Preferential parent - - - - - - 314911 - Severe Canavan disease - - - Preferential parent - - - - - - 314918 - Mild Canavan disease - - - Preferential parent - - - - - - 314978 - X-linked non progressive cerebellar ataxia - - - Preferential parent - - - - - - 314993 - Cataract-congenital heart disease-neural tube defect syndrome - - - Preferential parent - - - - - - 316226 - Spastic ataxia - - - Preferential parent - - - - - - 316235 - Autosomal dominant spastic ataxia - - - Preferential parent - - - - - - 316240 - Autosomal recessive spastic ataxia - - - Preferential parent - - - - - - 319160 - Congenital myopathy with internal nuclei and atypical cores - - - Preferential parent - - - - - - 319189 - Familial cortical myoclonus - - - Preferential parent - - - - - - 319192 - Diencephalic-mesencephalic junction dysplasia - - - Preferential parent - - - - - - 319199 - Autosomal recessive spastic paraplegia type 53 - - - Preferential parent - - - - - - 319332 - Autosomal recessive myogenic arthrogryposis multiplex congenita - - - Preferential parent - - - - - - 320332 - X-linked pure spastic paraplegia - - - Preferential parent - - - - - - 320335 - Pure or complex hereditary spastic paraplegia - - - Preferential parent - - - - - - 320342 - Pure or complex autosomal dominant spastic paraplegia - - - Preferential parent - - - - - - 320346 - Pure or complex autosomal recessive spastic paraplegia - - - Preferential parent - - - - - - 320350 - Pure or complex X-linked spastic paraplegia - - - Preferential parent - - - - - - 320355 - Autosomal dominant spastic paraplegia type 41 - - - Preferential parent - - - - - - 320360 - MT-ATP6-related mitochondrial spastic paraplegia - - - Preferential parent - - - - - - 320365 - Autosomal dominant spastic paraplegia type 36 - - - Preferential parent - - - - - - 320370 - Autosomal recessive spastic paraplegia type 43 - - - Preferential parent - - - - - - 320375 - Autosomal recessive spastic paraplegia type 55 - - - Preferential parent - - - - - - 320380 - Autosomal recessive spastic paraplegia type 54 - - - Preferential parent - - - - - - 320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - - Preferential parent - - - - - - 320391 - Autosomal recessive spastic paraplegia type 46 - - - Preferential parent - - - - - - 320396 - Autosomal recessive spastic paraplegia type 45 - - - Preferential parent - - - - - - 320401 - Autosomal recessive spastic paraplegia type 44 - - - Preferential parent - - - - - - 320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome - - - Preferential parent - - - - - - 320411 - Autosomal recessive spastic paraplegia type 56 - - - Preferential parent - - - - - - 324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - - Preferential parent - - - - - - 324290 - PRDM8-related progressive myoclonus epilepsy - - - Preferential parent - - - - - - 324353 - Congenital achiasma - - - Preferential parent - - - - - - 324381 - Hereditary inclusion body myopathy type 4 - - - Preferential parent - - - - - - 324442 - Autosomal recessive axonal neuropathy with neuromyotonia - - - Preferential parent - - - - - - 324581 - Benign Samaritan congenital myopathy - - - Preferential parent - - - - - - 324585 - Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - - - Preferential parent - - - - - - 324588 - Familial dyskinesia and facial myokymia - - - Preferential parent - - - - - - 324604 - Classic multiminicore myopathy - - - Preferential parent - - - - - - 324611 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - - - Preferential parent - - - - - - 324703 - ABetaL34V amyloidosis - - - Preferential parent - - - - - - 324708 - ABeta amyloidosis, Iowa type - - - Preferential parent - - - - - - 324713 - ABeta amyloidosis, Italian type - - - Preferential parent - - - - - - 324718 - ABetaA21G amyloidosis - - - Preferential parent - - - - - - 324723 - ABeta amyloidosis, Arctic type - - - Preferential parent - - - - - - 329195 - Developmental delay with autism spectrum disorder and gait instability - - - Preferential parent - - - - - - 329258 - Autosomal dominant Charcot-Marie-Tooth disease type 2Q - - - Preferential parent - - - - - - 329284 - Beta-propeller protein-associated neurodegeneration - - - Preferential parent - - - - - - 329303 - PLA2G6-associated neurodegeneration - - - Preferential parent - - - - - - 329308 - Fatty acid hydroxylase-associated neurodegeneration - - - Preferential parent - - - - - - 329332 - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - - Preferential parent - - - - - - 329466 - Autosomal dominant focal dystonia, DYT25 type - - - Preferential parent - - - - - - 329475 - Spastic paraplegia-Paget disease of bone syndrome - - - Preferential parent - - - - - - 329478 - Adult-onset distal myopathy due to VCP mutation - - - Preferential parent - - - - - - 329888 - Juvenile idiopathic inflammatory myopathy - - - Preferential parent - - - - - - 329894 - Juvenile overlap myositis - - - Preferential parent - - - - - - 330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - - Preferential parent - - - - - - 330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - - Preferential parent - - - - - - 352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - - Preferential parent - - - - - - 352470 - DNA2-related mitochondrial DNA deletion syndrome - - - Preferential parent - - - - - - 352479 - ISPD-related limb-girdle muscular dystrophy R20 - - - Preferential parent - - - - - - 352582 - Familial infantile myoclonic epilepsy - - - Preferential parent - - - - - - 352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - - Preferential parent - - - - - - 352596 - Progressive myoclonic epilepsy with dystonia - - - Preferential parent - - - - - - 352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - - Preferential parent - - - - - - 352654 - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome - - - Preferential parent - - - - - - 352670 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - - - Preferential parent - - - - - - 352675 - X-linked Charcot-Marie-Tooth disease type 6 - - - Preferential parent - - - - - - 352682 - Cobblestone lissencephaly without muscular or ocular involvement - - - Preferential parent - - - - - - 352709 - CLN13 disease - - - Preferential parent - - - - - - 352723 - Attenuated Chédiak-Higashi syndrome - - - Preferential parent - - - - - - 353253 - Burning mouth syndrome - - - Preferential parent - - - - - - 353327 - Congenital myasthenic syndromes with glycosylation defect - - - Preferential parent - - - - - - 356996 - ANK3-related intellectual disability-sleep disturbance syndrome - - - Preferential parent - - - - - - 357043 - Amyotrophic lateral sclerosis type 4 - - - Preferential parent - - - - - - 363400 - Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome - - - Preferential parent - - - - - - 363409 - Fetal akinesia-cerebral and retinal hemorrhage syndrome - - - Preferential parent - - - - - - 363412 - Hypomyelination with brain stem and spinal cord involvement and leg spasticity - - - Preferential parent - - - - - - 363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - - Preferential parent - - - - - - 363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - - Preferential parent - - - - - - 363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - - Preferential parent - - - - - - 363447 - Autosomal dominant childhood-onset proximal spinal muscular atrophy - - - Preferential parent - - - - - - 363454 - BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - - Preferential parent - - - - - - 363528 - Intellectual disability-strabismus syndrome - - - Preferential parent - - - - - - 363540 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema - - - Preferential parent - - - - - - 363549 - Acute encephalopathy with biphasic seizures and late reduced diffusion - - - Preferential parent - - - - - - 363558 - New-onset refractory status epilepticus - - - Preferential parent - - - - - - 363567 - Acute encephalopathy with inflammation-mediated status epilepticus - - - Preferential parent - - - - - - 363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - - Preferential parent - - - - - - 363654 - X-linked parkinsonism-spasticity syndrome - - - Preferential parent - - - - - - 363677 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - - - Preferential parent - - - - - - 363710 - Spinocerebellar ataxia type 37 - - - Preferential parent - - - - - - 363717 - Alexander disease type I - - - Preferential parent - - - - - - 363722 - Alexander disease type II - - - Preferential parent - - - - - - 363746 - Balint syndrome - - - Preferential parent - - - - - - 363969 - Autosomal recessive cerebral atrophy - - - Preferential parent - - - - - - 363981 - Charcot-Marie-Tooth disease type 4B3 - - - Preferential parent - - - - - - 364063 - Infantile epileptic-dyskinetic encephalopathy - - - Preferential parent - - - - - - 369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - - Preferential parent - - - - - - 369840 - TRAPPC11-related limb-girdle muscular dystrophy R18 - - - Preferential parent - - - - - - 369847 - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - - - Preferential parent - - - - - - 369867 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - - - Preferential parent - - - - - - 369929 - Primary hyperaldosteronism-seizures-neurological abnormalities syndrome - - - Preferential parent - - - - - - 369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - - Preferential parent - - - - - - 369942 - CADDS - - - Preferential parent - - - - - - 370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - - Preferential parent - - - - - - 370103 - Primary dystonia, DYT17 type - - - Preferential parent - - - - - - 370106 - Rare disorder with dystonia and other neurologic or systemic manifestation - - - Preferential parent - - - - - - 370109 - Ataxia-telangiectasia variant - - - Preferential parent - - - - - - 370921 - STT3A-CDG - - - Preferential parent - - - - - - 370924 - STT3B-CDG - - - Preferential parent - - - - - - 370927 - SSR4-CDG - - - Preferential parent - - - - - - 370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - - Preferential parent - - - - - - 370953 - Congenital muscular dystrophy due to dystroglycanopathy - - - Preferential parent - - - - - - 370959 - Congenital muscular dystrophy with cerebellar involvement - - - Preferential parent - - - - - - 370968 - Congenital muscular dystrophy with intellectual disability - - - Preferential parent - - - - - - 370980 - Congenital muscular dystrophy without intellectual disability - - - Preferential parent - - - - - - 370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - - Preferential parent - - - - - - 371007 - Congenital muscular dystrophy with hyperlaxity - - - Preferential parent - - - - - - 371024 - Qualitative or quantitative defects of alpha-dystroglycan - - - Preferential parent - - - - - - 371040 - Primary qualitative or quantitative defects of alpha-dystroglycan - - - Preferential parent - - - - - - 371364 - Hypotonia-speech impairment-severe cognitive delay syndrome - - - Preferential parent - - - - - - 371433 - Genetic periodic paralysis - - - Preferential parent - - - - - - 371442 - Sphingolipidosis with epilepsy - - - Preferential parent - - - - - - 376724 - Generalized isolated dystonia - - - Preferential parent - - - - - - 391316 - Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - - - Preferential parent - - - - - - 391343 - Fatal post-viral neurodegenerative disorder - - - Preferential parent - - - - - - 391351 - SURF1-related Charcot-Marie-Tooth disease type 4 - - - Preferential parent - - - - - - 391372 - FOXP1 Syndrome - - - Preferential parent - - - - - - 391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - - Preferential parent - - - - - - 391384 - Familial episodic pain syndrome - - - Preferential parent - - - - - - 391389 - Familial episodic pain syndrome with predominantly upper body involvement - - - Preferential parent - - - - - - 391392 - Familial episodic pain syndrome with predominantly lower limb involvement - - - Preferential parent - - - - - - 391397 - Hereditary sensory and autonomic neuropathy type 7 - - - Preferential parent - - - - - - 391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - - Preferential parent - - - - - - 391411 - Atypical juvenile parkinsonism - - - Preferential parent - - - - - - 391490 - Adult-onset myasthenia gravis - - - Preferential parent - - - - - - 391497 - Juvenile myasthenia gravis - - - Preferential parent - - - - - - 391504 - Transient neonatal myasthenia gravis - - - Preferential parent - - - - - - 391711 - Persistent combined dystonia - - - Preferential parent - - - - - - 391799 - Rare genetic dystonia - - - Preferential parent - - - - - - 397606 - PrP systemic amyloidosis - - - Preferential parent - - - - - - 397725 - COASY protein-associated neurodegeneration - - - Preferential parent - - - - - - 397735 - Autosomal dominant Charcot-Marie-Tooth disease type 2U - - - Preferential parent - - - - - - 397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - - Preferential parent - - - - - - 397750 - Periodic paralysis with later-onset distal motor neuropathy - - - Preferential parent - - - - - - 397755 - Periodic paralysis with transient compartment-like syndrome - - - Preferential parent - - - - - - 397922 - Ferro-cerebro-cutaneous syndrome - - - Preferential parent - - - - - - 397933 - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome - - - Preferential parent - - - - - - 397946 - Autosomal spastic paraplegia type 58 - - - Preferential parent - - - - - - 397951 - Microcephaly-thin corpus callosum-intellectual disability syndrome - - - Preferential parent - - - - - - 397968 - Charcot-Marie-Tooth disease type 2R - - - Preferential parent - - - - - - 398147 - Persistent idiopathic facial pain - - - Preferential parent - - - - - - 399058 - Alpha-B crystallin-related late-onset myopathy - - - Preferential parent - - - - - - 399081 - KLHL9-related early-onset distal myopathy - - - Preferential parent - - - - - - 399086 - HNRNPA1-related adult-onset distal myopathy - - - Preferential parent - - - - - - 399096 - Distal anoctaminopathy - - - Preferential parent - - - - - - 399103 - Distal nebulin myopathy - - - Preferential parent - - - - - - 401768 - Proximal myopathy with extrapyramidal signs - - - Preferential parent - - - - - - 401780 - Autosomal recessive spastic paraplegia type 61 - - - Preferential parent - - - - - - 401785 - Autosomal recessive spastic paraplegia type 62 - - - Preferential parent - - - - - - 401795 - Autosomal recessive spastic paraplegia type 59 - - - Preferential parent - - - - - - 401800 - Autosomal recessive spastic paraplegia type 60 - - - Preferential parent - - - - - - 401805 - Autosomal recessive spastic paraplegia type 63 - - - Preferential parent - - - - - - 401810 - Autosomal recessive spastic paraplegia type 64 - - - Preferential parent - - - - - - 401815 - Autosomal recessive spastic paraplegia type 66 - - - Preferential parent - - - - - - 401820 - Autosomal recessive spastic paraplegia type 67 - - - Preferential parent - - - - - - 401830 - Autosomal recessive spastic paraplegia type 69 - - - Preferential parent - - - - - - 401835 - Autosomal recessive spastic paraplegia type 70 - - - Preferential parent - - - - - - 401840 - Autosomal recessive spastic paraplegia type 71 - - - Preferential parent - - - - - - 401849 - Autosomal spastic paraplegia type 72 - - - Preferential parent - - - - - - 401901 - Huntington disease-like syndrome due to C9ORF72 expansions - - - Preferential parent - - - - - - 401923 - 9q31.1q31.3 microdeletion syndrome - - - Preferential parent - - - - - - 401935 - 14q24.1q24.3 microdeletion syndrome - - - Preferential parent - - - - - - 401953 - Episodic ataxia with slurred speech - - - Preferential parent - - - - - - 401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - - Preferential parent - - - - - - 401964 - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - - - Preferential parent - - - - - - 401973 - MEND syndrome - - - Preferential parent - - - - - - 401993 - Cold-induced sweating syndrome-hyperthermia spectrum - - - Preferential parent - - - - - - 402082 - Progressive myoclonic epilepsy type 5 - - - Preferential parent - - - - - - 402364 - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - - - Preferential parent - - - - - - 404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - - Preferential parent - - - - - - 404448 - ADNP syndrome - - - Preferential parent - - - - - - 404473 - Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - - - Preferential parent - - - - - - 404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - - Preferential parent - - - - - - 404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - - Preferential parent - - - - - - 404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - - Preferential parent - - - - - - 404521 - Spinal muscular atrophy with respiratory distress type 2 - - - Preferential parent - - - - - - 404538 - X-linked distal hereditary motor neuropathy - - - Preferential parent - - - - - - 411511 - Angelman syndrome due to a point mutation - - - Preferential parent - - - - - - 411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - - Preferential parent - - - - - - 411602 - Hereditary late-onset Parkinson disease - - - Preferential parent - - - - - - 411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - - Preferential parent - - - - - - 412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - - Preferential parent - - - - - - 412066 - PRKAR1B-related neurodegenerative dementia with intermediate filaments - - - Preferential parent - - - - - - 412069 - AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome - - - Preferential parent - - - - - - 412217 - Dystonia-aphonia syndrome - - - Preferential parent - - - - - - 415286 - Bilirubin encephalopathy - - - Preferential parent - - - - - - 420485 - Cranio-cervical dystonia with laryngeal and upper-limb involvement - - - Preferential parent - - - - - - 420492 - Adult-onset cervical dystonia, DYT23 type - - - Preferential parent - - - - - - 420789 - Autoimmune encephalopathy with parasomnia and obstructive sleep apnea - - - Preferential parent - - - - - - 423275 - Spinocerebellar ataxia type 40 - - - Preferential parent - - - - - - 423296 - Spinocerebellar ataxia type 38 - - - Preferential parent - - - - - - 423662 - Rare autonomic nervous system disorder - - - Preferential parent - - - - - - 423894 - Microcephaly-complex motor and sensory axonal neuropathy syndrome - - - Preferential parent - - - - - - 424027 - Progressive myoclonic epilepsy type 8 - - - Preferential parent - - - - - - 424107 - Congenital myopathy with myasthenic-like onset - - - Preferential parent - - - - - - 424261 - TOR1AIP1-related limb-girdle muscular dystrophy - - - Preferential parent - - - - - - 424925 - Qualitative or quantitative defects of Torsin-1A-interacting protein 1 - - - Preferential parent - - - - - - 431255 - Scapuloperoneal spinal muscular atrophy - - - Preferential parent - - - - - - 431263 - Late-onset scapuloperoneal muscular dystrophy with hyaline bodies - - - Preferential parent - - - - - - 431272 - X-linked scapuloperoneal muscular dystrophy - - - Preferential parent - - - - - - 431320 - Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder - - - Preferential parent - - - - - - 431329 - Autosomal recessive spastic paraplegia type 57 - - - Preferential parent - - - - - - 431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - - Preferential parent - - - - - - 434786 - Rare genetic autonomic nervous system disorder - - - Preferential parent - - - - - - 435387 - Autosomal dominant Charcot-Marie-Tooth disease type 2Y - - - Preferential parent - - - - - - 435438 - Progressive myoclonic epilepsy type 7 - - - Preferential parent - - - - - - 435638 - 3p25.3 microdeletion syndrome - - - Preferential parent - - - - - - 435819 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation - - - Preferential parent - - - - - - 435845 - Lethal neonatal spasticity-epileptic encephalopathy syndrome - - - Preferential parent - - - - - - 435998 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - - Preferential parent - - - - - - 436151 - Intellectual disability-expressive aphasia-facial dysmorphism syndrome - - - Preferential parent - - - - - - 436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - - Preferential parent - - - - - - 438114 - RARS-related autosomal recessive hypomyelinating leukodystrophy - - - Preferential parent - - - - - - 438213 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome - - - Preferential parent - - - - - - 438216 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - - - Preferential parent - - - - - - 438266 - Progressive encephalomyelitis with rigidity and myoclonus - - - Preferential parent - - - - - - 439175 - Pediatric arterial ischemic stroke - - - Preferential parent - - - - - - 439202 - Non-recovering obstetric brachial plexus lesion - - - Preferential parent - - - - - - 439212 - Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome - - - Preferential parent - - - - - - 439218 - KCNQ2-related developmental and epileptic encephalopathy - - - Preferential parent - - - - - - 439254 - ITM2B amyloidosis - - - Preferential parent - - - - - - 440706 - Ribose-5-P isomerase deficiency - - - Preferential parent - - - - - - 442835 - Non-specific early-onset epileptic encephalopathy - - - Preferential parent - - - - - - 443070 - Hemicrania continua - - - Preferential parent - - - - - - 443073 - Charcot-Marie-Tooth disease type 2S - - - Preferential parent - - - - - - 443084 - Baroreflex failure - - - Preferential parent - - - - - - 443162 - NDE1-related microhydranencephaly - - - Preferential parent - - - - - - 443173 - Postpartum psychosis - - - Preferential parent - - - - - - 443180 - Spontaneous intracranial hypotension - - - Preferential parent - - - - - - 443192 - Classic stiff person syndrome - - - Preferential parent - - - - - - 443236 - Postural orthostatic tachycardia syndrome due to NET deficiency - - - Preferential parent - - - - - - 443804 - Focal stiff limb syndrome - - - Preferential parent - - - - - - 443950 - DNAJB2-related Charcot-Marie-Tooth disease type 2 - - - Preferential parent - - - - - - 444099 - Autosomal dominant spastic paraplegia type 73 - - - Preferential parent - - - - - - 445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - - Preferential parent - - - - - - 447753 - Autosomal dominant spastic paraplegia type 9A - - - Preferential parent - - - - - - 447757 - Autosomal dominant spastic paraplegia type 9B - - - Preferential parent - - - - - - 447760 - Autosomal recessive spastic paraplegia type 9B - - - Preferential parent - - - - - - 447881 - Idiopathic dropped head syndrome - - - Preferential parent - - - - - - 447893 - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - - Preferential parent - - - - - - 447896 - Tremor-ataxia-central hypomyelination syndrome - - - Preferential parent - - - - - - 447964 - Autosomal dominant Charcot-Marie-Tooth disease type 2V - - - Preferential parent - - - - - - 447977 - Progressive scapulohumeroperoneal distal myopathy - - - Preferential parent - - - - - - 448426 - Genetic primary orthostatic hypotension - - - Preferential parent - - - - - - 449427 - IgG4-related pachymeningitis - - - Preferential parent - - - - - - 453510 - Congenital insensitivity to pain with severe intellectual disability - - - Preferential parent - - - - - - 453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - - Preferential parent - - - - - - 454700 - Acquired Creutzfeldt-Jakob disease - - - Preferential parent - - - - - - 454706 - Progressive muscular atrophy - - - Preferential parent - - - - - - 454742 - Variably protease-sensitive prionopathy - - - Preferential parent - - - - - - 454745 - Kuru - - - Preferential parent - - - - - - 454887 - Corticobasal syndrome - - - Preferential parent - - - - - - 456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - - Preferential parent - - - - - - 457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - - Preferential parent - - - - - - 457074 - Congenital nemaline myopathy - - - Preferential parent - - - - - - 457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - - Preferential parent - - - - - - 457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - - Preferential parent - - - - - - 457212 - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - - Preferential parent - - - - - - 457260 - X-linked intellectual disability-hypotonia-movement disorder syndrome - - - Preferential parent - - - - - - 457265 - Progressive myoclonic epilepsy type 9 - - - Preferential parent - - - - - - 457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - - Preferential parent - - - - - - 458798 - Spinocerebellar ataxia type 41 - - - Preferential parent - - - - - - 458803 - Spinocerebellar ataxia type 42 - - - Preferential parent - - - - - - 459033 - Ataxia-oculomotor apraxia type 4 - - - Preferential parent - - - - - - 459056 - Autosomal recessive spastic paraplegia type 75 - - - Preferential parent - - - - - - 464440 - Primary dystonia, DYT27 type - - - Preferential parent - - - - - - 464764 - Immune-mediated acquired neuromuscular junction disease - - - Preferential parent - - - - - - 466650 - Exercise-induced malignant hyperthermia - - - Preferential parent - - - - - - 466658 - Rare disease with malignant hyperthermia - - - Preferential parent - - - - - - 466722 - Autosomal recessive spastic paraplegia type 77 - - - Preferential parent - - - - - - 466768 - Autosomal dominant Charcot-Marie-Tooth disease type 2Z - - - Preferential parent - - - - - - 466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - - Preferential parent - - - - - - 466921 - Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome - - - Preferential parent - - - - - - 466934 - VPS11-related autosomal recessive hypomyelinating leukodystrophy - - - Preferential parent - - - - - - 467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - - Preferential parent - - - - - - 468620 - Intellectual disability-epilepsy-extrapyramidal syndrome - - - Preferential parent - - - - - - 468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - - Preferential parent - - - - - - 468661 - Autosomal recessive spastic paraplegia type 74 - - - Preferential parent - - - - - - 476084 - BVES-related limb-girdle muscular dystrophy - - - Preferential parent - - - - - - 476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - - Preferential parent - - - - - - 476109 - Axonal hereditary motor and sensory neuropathy - - - Preferential parent - - - - - - 476116 - Demyelinating hereditary motor and sensory neuropathy - - - Preferential parent - - - - - - 476123 - Intermediate Charcot-Marie-Tooth disease - - - Preferential parent - - - - - - 476394 - PMP2-related Charcot-Marie-Tooth disease type 1 - - - Preferential parent - - - - - - 476403 - Hypercontractile muscle stiffness syndrome - - - Preferential parent - - - - - - 476406 - Congenital generalized hypercontractile muscle stiffness syndrome - - - Preferential parent - - - - - - 477673 - Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome - - - Preferential parent - - - - - - 477738 - Pediatric multiple sclerosis - - - Preferential parent - - - - - - 477749 - Pontine autosomal dominant microangiopathy with leukoencephalopathy - - - Preferential parent - - - - - - 477754 - Genetic cerebral small vessel disease - - - Preferential parent - - - - - - 477759 - COL4A1 or COL4A2-related cerebral small vessel disease - - - Preferential parent - - - - - - 477762 - COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency - - - Preferential parent - - - - - - 477765 - COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency - - - Preferential parent - - - - - - 477768 - Moyamoya angiopathy - - - Preferential parent - - - - - - 477771 - Rare disorder with a moyamoya angiopathy - - - Preferential parent - - - - - - 478664 - Hereditary sensory and autonomic neuropathy type 8 - - - Preferential parent - - - - - - 480682 - POGLUT1-related limb-girdle muscular dystrophy R21 - - - Preferential parent - - - - - - 480701 - Facial diplegia with paresthesias - - - Preferential parent - - - - - - 480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - - Preferential parent - - - - - - 481665 - USP18 deficiency - - - Preferential parent - - - - - - 482072 - HTRA1-related cerebral small vessel disease - - - Preferential parent - - - - - - 482077 - HTRA1-related autosomal dominant cerebral small vessel disease - - - Preferential parent - - - - - - 482601 - Adenylosuccinate synthetase-like 1-related distal myopathy - - - Preferential parent - - - - - - 485350 - CLCN4-related X-linked intellectual disability syndrome - - - Preferential parent - - - - - - 485418 - EMILIN-1-related connective tissue disease - - - Preferential parent - - - - - - 485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - - Preferential parent - - - - - - 486815 - Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome - - - Preferential parent - - - - - - 487814 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation - - - Preferential parent - - - - - - 488333 - Autosomal dominant Charcot-Marie-Tooth disease type 2W - - - Preferential parent - - - - - - 488594 - Autosomal recessive spastic paraplegia type 76 - - - Preferential parent - - - - - - 488613 - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - - Preferential parent - - - - - - 488650 - Distal myopathy, Tateyama type - - - Preferential parent - - - - - - 494457 - Rare hyperkinetic movement disorder - - - Preferential parent - - - - - - 494526 - Infantile-onset generalized dyskinesia with orofacial involvement - - - Preferential parent - - - - - - 494541 - Childhood-onset benign chorea with striatal involvement - - - Preferential parent - - - - - - 495274 - Charcot-Marie-Tooth disease type 2T - - - Preferential parent - - - - - - 495844 - C11ORF73-related autosomal recessive hypomyelinating leukodystrophy - - - Preferential parent - - - - - - 496686 - Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome - - - Preferential parent - - - - - - 496689 - Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome - - - Preferential parent - - - - - - 496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - - Preferential parent - - - - - - 496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - - Preferential parent - - - - - - 496916 - Rare genetic hyperkinetic movement disorder - - - Preferential parent - - - - - - 497764 - Spinocerebellar ataxia type 43 - - - Preferential parent - - - - - - 497906 - Childhood-onset basal ganglia degeneration syndrome - - - Preferential parent - - - - - - 500180 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - - Preferential parent - - - - - - 500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - - Preferential parent - - - - - - 500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - - Preferential parent - - - - - - 502444 - Alkaline ceramidase 3 deficiency - - - Preferential parent - - - - - - 504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - - Preferential parent - - - - - - 505208 - 3-methylglutaconic aciduria type 8 - - - Preferential parent - - - - - - 505216 - 3-methylglutaconic aciduria type 9 - - - Preferential parent - - - - - - 505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - - Preferential parent - - - - - - 505652 - CDKL5-deficiency disorder - - - Preferential parent - - - - - - 506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - - Preferential parent - - - - - - 508093 - MEPAN syndrome - - - Preferential parent - - - - - - 508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - - Preferential parent - - - - - - 512260 - Congenital cerebellar ataxia due to RNU12 mutation - - - Preferential parent - - - - - - 513436 - Autosomal recessive spastic paraplegia type 78 - - - Preferential parent - - - - - - 514980 - ATP13A2-related parkinsonism - - - Preferential parent - - - - - - 521123 - Radiation-induced plexopathy - - - Preferential parent - - - - - - 521232 - Genetic primary orthostatic disorder - - - Preferential parent - - - - - - 521236 - Primary orthostatic disorder - - - Preferential parent - - - - - - 521305 - Proximal myopathy with focal depletion of mitochondria - - - Preferential parent - - - - - - 521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - - Preferential parent - - - - - - 521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - - Preferential parent - - - - - - 521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - - Preferential parent - - - - - - 521414 - Autosomal dominant Charcot-Marie-Tooth disease type 2DD - - - Preferential parent - - - - - - 522077 - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - - Preferential parent - - - - - - 522506 - Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature - - - Preferential parent - - - - - - 522522 - Rare genetic neuromuscular disorder with ocular motility/alignment anomaly - - - Preferential parent - - - - - - 525738 - Prepubertal anorexia nervosa - - - Preferential parent - - - - - - 527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - - Preferential parent - - - - - - 527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - - Preferential parent - - - - - - 528084 - Non-specific syndromic intellectual disability - - - Preferential parent - - - - - - 529799 - Acute bilirubin encephalopathy - - - Preferential parent - - - - - - 529808 - Chronic bilirubin encephalopathy - - - Preferential parent - - - - - - 530298 - Progressive myoclonic epilepsy with neuroserpin inclusion bodies - - - Preferential parent - - - - - - 530303 - Progressive dementia with neuroserpin inclusion bodies - - - Preferential parent - - - - - - 531151 - 9q21.13 microdeletion syndrome - - - Preferential parent - - - - - - 538096 - Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy - - - Preferential parent - - - - - - 538101 - Congenital axonal neuropathy with encephalopathy - - - Preferential parent - - - - - - 538238 - Neurological channelopathy of the central nervous system due to a genetic chloride channel defect - - - Preferential parent - - - - - - 541423 - Growth delay-intellectual disability-hepatopathy syndrome - - - Preferential parent - - - - - - 542310 - Leukoencephalopathy with calcifications and cysts - - - Preferential parent - - - - - - 544254 - SYNGAP1-related developmental and epileptic encephalopathy - - - Preferential parent - - - - - - 544469 - PRUNE1-related neurological syndrome - - - Preferential parent - - - - - - 544602 - Congenital myopathy with reduced type 2 muscle fibers - - - Preferential parent - - - - - - 556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - - Preferential parent - - - - - - 557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - - Preferential parent - - - - - - 557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - - Preferential parent - - - - - - 561854 - FOXG1 syndrome - - - Preferential parent - - - - - - 562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - - Preferential parent - - - - - - 565624 - Combined oxidative phosphorylation defect type 39 - - - Preferential parent - - - - - - 565837 - Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 - - - Preferential parent - - - - - - 565899 - POMGNT2-related limb-girdle muscular dystrophy R24 - - - Preferential parent - - - - - - 565909 - Calpain-3-related limb-girdle muscular dystrophy D4 - - - Preferential parent - - - - - - 572543 - RFVT2-related riboflavin transporter deficiency - - - Preferential parent - - - - - - 572550 - RFVT3-related riboflavin transporter deficiency - - - Preferential parent - - - - - - 575553 - Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - - - Preferential parent - - - - - - 576356 - Sporadic human prion disease - - - Preferential parent - - - - - - 576360 - Acquired human prion disease - - - Preferential parent - - - - - - 576370 - Variant Creutzfeldt-Jakob disease - - - Preferential parent - - - - - - 576379 - Iatrogenic Creutzfeldt-Jakob disease - - - Preferential parent - - - - - - 581271 - Cramp-fasciculation syndrome - - - Preferential parent - - - - - - 586130 - Sporadic fatal insomnia - - - Preferential parent - - - - - - 589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - - Preferential parent - - - - - - 589522 - Spinocerebellar ataxia type 46 - - - Preferential parent - - - - - - 589527 - Spinocerebellar ataxia type 45 - - - Preferential parent - - - - - - 589547 - GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder - - - Preferential parent - - - - - - 589618 - Dystonia 28 - - - Preferential parent - - - - - - 589821 - Congenital-onset Steinert myotonic dystrophy - - - Preferential parent - - - - - - 589824 - Childhood-onset Steinert myotonic dystrophy - - - Preferential parent - - - - - - 589827 - Juvenile-onset Steinert myotonic dystrophy - - - Preferential parent - - - - - - 589830 - Adult-onset Steinert myotonic dystrophy - - - Preferential parent - - - - - - 589833 - Late-onset Steinert myotonic dystrophy - - - Preferential parent - - - - - - 592564 - GNAO1-related developmental delay-seizures-movement disorder spectrum - - - Preferential parent - - - - - - 592850 - Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies - - - Preferential parent - - - - - - 592856 - Neuromyelitis optica spectrum disorder with anti-MOG antibodies - - - Preferential parent - - - - - - 592869 - Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies - - - Preferential parent - - - - - - 592873 - Acute transverse myelitis with anti-MOG antibodies - - - Preferential parent - - - - - - 592894 - Acute disseminated encephalomyelitis with anti-MOG antibodies - - - Preferential parent - - - - - - 592900 - Acute disseminated encephalomyelitis without anti-MOG antibodies - - - Preferential parent - - - - - - 597623 - IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome - - - Preferential parent - - - - - - 597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - - Preferential parent - - - - - - 598164 - FOXG1 syndrome due to intragenic alteration - - - Preferential parent - - - - - - 599373 - STXBP1-related encephalopathy - - - Preferential parent - - - - - - 599376 - Hypomyelination of early myelinating structures - - - Preferential parent - - - - - - 600663 - NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance - - - Preferential parent - - - - - - 603694 - KLHL7-related Crisponi/cold-induced sweating-like syndrome - - - Preferential parent - - - - - - 603699 - Recessive KLHL7-related disorder - - - Preferential parent - - - - - - 604680 - Symptomatic form of X-linked centronuclear myopathy in female carriers - - - Preferential parent - - - - - - 610573 - CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome - - - Preferential parent - - - - - - 611237 - Parkinsonism with polyneuropathy - - - Preferential parent - - - - - - 611314 - Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome - - - Preferential parent - - - - - - 615964 - Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate - - - Preferential parent - - - - - - 617440 - Painful legs and moving toes syndrome - - - Preferential parent - - - - - - 619284 - Narcolepsy - - - Preferential parent - - - - - - 622014 - Autoimmune encephalitis - - - Preferential parent - - - - - - 623615 - Autoimmune limbic encephalitis - - - Preferential parent - - - - - - 623626 - Paraneoplastic cerebellar degeneration - - - Preferential parent - - - - - - 623638 - Immune-mediated cerebellar ataxia - - - Preferential parent - - - - - - 623789 - Body integrity dysphoria - - - Preferential parent - - - - - - 623801 - Acute flaccid myelitis - - - Preferential parent - - - - - - 624166 - Non-specific autoimmune supratentorial encephalitis with characteristic antibodies - - - Preferential parent - - - - - - 624178 - Non-specific autoimmune supratentorial encephalitis without characteristic antibodies - - - Preferential parent - - - - - - 624190 - Paraneoplastic isolated brainstem encephalitis - - - Preferential parent - - - - - - 624199 - Non-specific autoimmune brainstem encephalitis with characteristic antibodies - - - Preferential parent - - - - - - 624216 - Non-specific autoimmune brainstem encephalitis without characteristic antibodies - - - Preferential parent - - - - - - 624244 - Postinfectious cerebellitis - - - Preferential parent - - - - - - 624259 - Non-specific autoimmune cerebellar ataxia with characteristic antibodies - - - Preferential parent - - - - - - 624268 - Non-specific autoimmune cerebellar ataxia without characteristic antibodies - - - Preferential parent - - - - - - 631068 - Autosomal dominant spastic paraplegia type 80 - - - Preferential parent - - - - - - 631073 - Autosomal recessive spastic paraplegia type 82 - - - Preferential parent - - - - - - 631076 - Autosomal recessive spastic paraplegia type 83 - - - Preferential parent - - - - - - 631079 - Autosomal recessive spastic paraplegia type 84 - - - Preferential parent - - - - - - 631082 - Autosomal recessive spastic paraplegia type 85 - - - Preferential parent - - - - - - 631085 - Autosomal recessive spastic paraplegia type 86 - - - Preferential parent - - - - - - 631088 - Autosomal recessive spastic paraplegia type 87 - - - Preferential parent - - - - - - 631095 - Spinocerebellar ataxia type 44 - - - Preferential parent - - - - - - 631103 - Spinocerebellar ataxia type 48 - - - Preferential parent - - - - - - 631106 - Spinocerebellar ataxia type 49 - - - Preferential parent - - - - - - 631248 - Mitchell Syndrome - - - Preferential parent - - - - - - 633014 - SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome - - - Preferential parent - - - - - - 633021 - SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome - - - Preferential parent - - - - - - 633024 - SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome - - - Preferential parent - - - - - - 634461 - Mosaic neurofibromatosis type 1 - - - Preferential parent - - - - - - 634492 - Mosaic schwannomatosis - - - Preferential parent - - - - - - 634518 - Neurofibromatosis/schwannomatosis - - - Preferential parent - - - - - - 636965 - Autosomal dominant myosin storage myopathy - - - Preferential parent - - - - - - 636970 - Autosomal recessive myosin storage myopathy - - - Preferential parent - - - - - - 641353 - Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome - - - Preferential parent - - - - - - 641361 - Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome - - - Preferential parent - - - - - - 641496 - Childhood-onset schizophrenia - - - Preferential parent - - - - - - 642747 - PUM1-related cerebellar ataxia - - - Preferential parent - - - - - - 642954 - Autosomal recessive ataxia due to PEX16 deficiency - - - Preferential parent - - - - - - 642965 - Autosomal recessive ataxia due to PEX2 deficiency - - - Preferential parent - - - - - - 646098 - Collagen VI-related congenital muscular dystrophy - - - Preferential parent - - - - - - 646113 - Intermediate collagen VI-related muscular dystrophy - - - Preferential parent - - - - - - 647788 - Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome - - - Preferential parent - - - - - - 647799 - MYT1L-related developmental delay-intellectual disability-obesity syndrome - - - Preferential parent - - - - - - 648919 - Idiopathic catatonia - - - Preferential parent - - - - - - 652532 - Adult-onset progressive leukoencephalopathy-early-onset deafness - - - Preferential parent - - - - - - 653725 - Autosomal recessive limb-girdle muscular dystrophy, type 28 - - - Preferential parent - - - - - - 653728 - Congenital insensitivity to pain syndrome, Marsili type - - - Preferential parent - - - - - - 656279 - 1p36.33 duplication syndrome - - - Preferential parent - - - - - - 658549 - Idiopathic small fibers neuropathy - - - Preferential parent - - - - - - 658778 - COQ7-related distal hereditary motor neuropathy - - - Preferential parent - - - - - - 660012 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation - - - Preferential parent - - - - - - 660017 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome - - - Preferential parent - - - - - - 662184 - Congenital muscular dystrophy-cataract-intellectual disability syndrome - - - Preferential parent - - - - - - 662229 - Episodic memory defect leukoencephalopathy - - - Preferential parent - - - - - - 662240 - Frey syndrome - - - Preferential parent - - - - - - 662367 - NESCAV syndrome - - - Preferential parent - - - - - - 664901 - Trigeminal trophic syndrome - - - Preferential parent - - - - - - 675216 - Spinocerebellar ataxia type 27B - - - Preferential parent - - - - - - 684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - - Preferential parent - - - - - - 684290 - Hypertrophic olivary degeneration - - - Preferential parent - - - - - - 686468 - Post 5-alpha-reductase inhibitors treatment syndrome - - - Preferential parent - - - - - - 686475 - Post-selective serotonin reuptake inhibitor sexual dysfunction - - - Preferential parent - - - - - - 686999 - Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - - - Preferential parent - - - - - - 689001 - Isolated spontaneous cervical artery dissection - - - Preferential parent - - - - - - 689021 - Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome - - - Preferential parent - - - - - - 689231 - IFIH1-related hereditary spastic paraplegia - - - Preferential parent - - - - - - 689234 - RNASEH2B-related hereditary spastic paraplegia - - - Preferential parent - - - - - - 692173 - Marbach-Schaaf neurodevelopmental syndrome - - - Preferential parent - - - - - - 693802 - Neonatal-infantile onset epilepsy syndrome - - - Preferential parent - - - - - - 694356 - ADAR-related hereditary spastic paraplegia - - - Preferential parent - - - - - - 694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - - Preferential parent - - - - - - 695783 - EDEM3-CDG - - - Preferential parent - - - - - - 696063 - PLIN4-related distal myopathy - - - Preferential parent - - - - - - 697160 - Infantile epileptic spasms syndrome - - - Preferential parent - - - - - - 697356 - Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome - - - Preferential parent - - - - - - 698005 - Epilepsy with generalized tonic-clonic seizures alone - - - Preferential parent - - - - - - 699645 - Variable age-onset epilepsy syndrome - - - Preferential parent - - - - - - 699708 - CLN14 disease - - - Preferential parent - - - - - - 699718 - Infantile CLN1 disease - - - Preferential parent - - - - - - 699734 - Late infantile CLN1 disease - - - Preferential parent - - - - - - 699739 - Juvenile CLN1 disease - - - Preferential parent - - - - - - 699745 - Adult CLN1 disease - - - Preferential parent - - - - - - 699751 - Infantile CLN2 disease - - - Preferential parent - - - - - - 699761 - Late infantile CLN2 disease - - - Preferential parent - - - - - - 699769 - Juvenile CLN2 disease - - - Preferential parent - - - - - - 699780 - Juvenile CLN3 disease - - - Preferential parent - - - - - - 699796 - Protracted juvenile CLN3 disease - - - Preferential parent - - - - - - 699802 - Late infantile CLN5 disease - - - Preferential parent - - - - - - 699807 - Juvenile CLN5 disease - - - Preferential parent - - - - - - 699812 - Adult CLN5 disease - - - Preferential parent - - - - - - 699850 - 2p25.3 microduplication syndrome - - - Preferential parent - - - - - - 700143 - X-linked distal myopathy - - - Preferential parent - - - - - - 700154 - TARDBP-related predominantly upper-limb distal myopathy - - - Preferential parent - - - - - - 700163 - SMPX-related distal myopathy - - - Preferential parent - - - - - - 700170 - Asymetric thumb-handgrip weakness-distal myopathy - - - Preferential parent - - - - - - 700188 - Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy - - - Preferential parent - - - - - - 700333 - Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency - - - Preferential parent - - - - - - 700336 - Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency - - - Preferential parent - - - - - - 700467 - Late infantile CLN6 disease - - - Preferential parent - - - - - - 700472 - Juvenile CLN6 disease - - - Preferential parent - - - - - - 700477 - Adult CLN6 disease - - - Preferential parent - - - - - - 700484 - Late infantile CLN8 disease - - - Preferential parent - - - - - - 700487 - Congenital CLN10 disease - - - Preferential parent - - - - - - 700492 - Late infantile CLN10 disease - - - Preferential parent - - - - - - 700497 - Juvenile CLN10 disease - - - Preferential parent - - - - - - 700508 - Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy - - - Preferential parent - - - - - - 600194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194 - Factor V Atlanta bleeding disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98010 - Infectious disease of the nervous system - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 98033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98033 - Rare neurologic disease with psychiatric involvement - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98036 - Rare otorhinolaryngologic disease - - - - - 637 - Full NF2-related schwannomatosis - - - Preferential parent - - - - - - 2373 - Congenital laryngomalacia - - - Preferential parent - - - - - - 2374 - Isolated congenital laryngeal web - - - Preferential parent - - - - - - 705 - Pendred syndrome - - - Preferential parent - - - - - - 2372 - Laryngocele - - - Preferential parent - - - - - - 922 - Familial nasal acilia - - - Preferential parent - - - - - - 2291 - Congenital velopharyngeal incompetence - - - Preferential parent - - - - - - 2405 - Thickened earlobes-conductive deafness syndrome - - - Preferential parent - - - - - - 2668 - Nephropathy-deafness-hyperparathyroidism syndrome - - - Preferential parent - - - - - - 2808 - Laryngeal abductor paralysis - - - Preferential parent - - - - - - 3239 - Deafness-vitiligo-achalasia syndrome - - - Preferential parent - - - - - - 68361 - Rare deafness - - - Preferential parent - - - - - - 66633 - Sensorineural hearing loss-early graying-essential tremor syndrome - - - Preferential parent - - - - - - 71276 - Silent sinus syndrome - - - Preferential parent - - - - - - 87884 - Non-syndromic genetic deafness - - - Preferential parent - - - - - - 88620 - Isolated congenital anosmia - - - Preferential parent - - - - - - 90024 - Deafness with labyrinthine aplasia, microtia, and microdontia - - - Preferential parent - - - - - - 90059 - Sudden sensorineural hearing loss - - - Preferential parent - - - - - - 90625 - Rare X-linked non-syndromic sensorineural deafness type DFN - - - Preferential parent - - - - - - 90635 - Rare autosomal dominant non-syndromic sensorineural deafness type DFNA - - - Preferential parent - - - - - - 90636 - Rare autosomal recessive non-syndromic sensorineural deafness type DFNB - - - Preferential parent - - - - - - 90641 - Rare mitochondrial non-syndromic sensorineural deafness - - - Preferential parent - - - - - - 90642 - Syndromic genetic deafness - - - Preferential parent - - - - - - 90646 - Deafness-hypogonadism syndrome - - - Preferential parent - - - - - - 93953 - Familial thyroglossal duct cyst - - - Preferential parent - - - - - - 94064 - Deafness-infertility syndrome - - - Preferential parent - - - - - - 95430 - Congenital tracheomalacia - - - Preferential parent - - - - - - 96210 - Rare genetic deafness - - - Preferential parent - - - - - - 137932 - Congenital laryngeal palsy - - - Preferential parent - - - - - - 141046 - Cervical dermoid cyst - - - Preferential parent - - - - - - 141051 - Facial dermoid cyst - - - Preferential parent - - - - - - 141071 - Isolated digestive duplication cyst of the tongue - - - Preferential parent - - - - - - 141103 - Nasal dermoid cyst - - - Preferential parent - - - - - - 141107 - Nasopharyngeal teratoma - - - Preferential parent - - - - - - 141112 - Nasal glial heterotopia - - - Preferential parent - - - - - - 141121 - Congenital subglottic stenosis - - - Preferential parent - - - - - - 141124 - Congenital laryngeal cyst - - - Preferential parent - - - - - - 141127 - Congenital tracheal stenosis - - - Preferential parent - - - - - - 162526 - Isolated congenital auditory ossicle malformation - - - Preferential parent - - - - - - 171684 - Idiopathic bilateral vestibulopathy - - - Preferential parent - - - - - - 210272 - Mal de débarquement - - - Preferential parent - - - - - - 228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - - Preferential parent - - - - - - 289596 - Juvenile nasopharyngeal angiofibroma - - - Preferential parent - - - - - - 324321 - Sinoatrial node dysfunction and deafness - - - Preferential parent - - - - - - 363396 - High myopia-sensorineural deafness syndrome - - - Preferential parent - - - - - - 420402 - Semicircular canal dehiscence syndrome - - - Preferential parent - - - - - - 449432 - IgG4-related submandibular gland disease - - - Preferential parent - - - - - - 466084 - Genetic otorhinolaryngologic disease - - - Preferential parent - - - - - - 466775 - Autosomal recessive Charcot-Marie-Tooth disease type 2X - - - Preferential parent - - - - - - 494444 - DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - - - Preferential parent - - - - - - 500188 - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - - Preferential parent - - - - - - 502305 - Cochleovestibular malformation - - - Preferential parent - - - - - - 502318 - Cochlear nerve deficiency - - - Preferential parent - - - - - - 529574 - Duane retraction syndrome with congenital deafness - - - Preferential parent - - - - - - 634475 - Mosaic NF2-related schwannomatosis - - - Preferential parent - - - - - - 652681 - Idiopathic subglottic stenosis - - - Preferential parent - - - - - - 98023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98023 - Rare systemic or rheumatologic disease - - - - - 558 - Marfan syndrome - - - Preferential parent - - - - - - 536 - Systemic lupus erythematosus - - - Preferential parent - - - - - - 3099 - Rheumatic fever - - - Preferential parent - - - - - - 287 - Classical Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 69 - Amyloidosis - - - Preferential parent - - - - - - 732 - Polymyositis - - - Preferential parent - - - - - - 221 - Dermatomyositis - - - Preferential parent - - - - - - 117 - Behçet disease - - - Preferential parent - - - - - - 92 - Juvenile idiopathic arthritis - - - Preferential parent - - - - - - 797 - Sarcoidosis - - - Preferential parent - - - - - - 183 - Eosinophilic granulomatosis with polyangiitis - - - Preferential parent - - - - - - 375 - Anti-glomerular basement membrane disease - - - Preferential parent - - - - - - 761 - Immunoglobulin A vasculitis - - - Preferential parent - - - - - - 727 - Microscopic polyangiitis - - - Preferential parent - - - - - - 3165 - Eosinophilic fasciitis - - - Preferential parent - - - - - - 900 - Granulomatosis with polyangiitis - - - Preferential parent - - - - - - 2331 - Kawasaki disease - - - Preferential parent - - - - - - 3287 - Takayasu arteritis - - - Preferential parent - - - - - - 397 - Giant cell arteritis - - - Preferential parent - - - - - - 342 - Familial Mediterranean fever - - - Preferential parent - - - - - - 1345 - Cardiomyopathy-cataract-hip spine disease syndrome - - - Preferential parent - - - - - - 1416 - Familial calcium pyrophosphate deposition - - - Preferential parent - - - - - - 2095 - Gorlin-Chaudhry-Moss syndrome - - - Preferential parent - - - - - - 2295 - Familial articular hypermobility syndrome - - - Preferential parent - - - - - - 575 - Muckle-Wells syndrome - - - Preferential parent - - - - - - 2848 - Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome - - - Preferential parent - - - - - - 3130 - Satoyoshi syndrome - - - Preferential parent - - - - - - 2582 - Myalgia-eosinophilia syndrome associated with tryptophan - - - Preferential parent - - - - - - 2963 - Progeroid syndrome, Petty type - - - Preferential parent - - - - - - 820 - Sneddon syndrome - - - Preferential parent - - - - - - 1467 - Cogan syndrome - - - Preferential parent - - - - - - 1451 - CINCA syndrome - - - Preferential parent - - - - - - 767 - Polyarteritis nodosa - - - Preferential parent - - - - - - 2953 - Musculocontractural Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 809 - Mixed connective tissue disease - - - Preferential parent - - - - - - 389 - Langerhans cell histiocytosis - - - Preferential parent - - - - - - 285 - Hypermobile Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 286 - Vascular Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - - Preferential parent - - - - - - 1899 - Arthrochalasia Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 1901 - Dermatosparaxis Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 80 - Antiphospholipid syndrome - - - Preferential parent - - - - - - 829 - Adult-onset Still disease - - - Preferential parent - - - - - - 793 - SAPHO syndrome - - - Preferential parent - - - - - - 779 - Reynolds syndrome - - - Preferential parent - - - - - - 81 - Antisynthetase syndrome - - - Preferential parent - - - - - - 482 - Kimura disease - - - Preferential parent - - - - - - 889 - Cutaneous small vessel vasculitis - - - Preferential parent - - - - - - 838 - Susac syndrome - - - Preferential parent - - - - - - 188 - Systemic capillary leak syndrome - - - Preferential parent - - - - - - 658 - Non-histaminic angioedema - - - Preferential parent - - - - - - 728 - Relapsing polychondritis - - - Preferential parent - - - - - - 29207 - Reactive arthritis - - - Preferential parent - - - - - - 32960 - Tumor necrosis factor receptor 1 associated periodic syndrome - - - Preferential parent - - - - - - 35687 - Erdheim-Chester disease - - - Preferential parent - - - - - - 36258 - Buerger disease - - - Preferential parent - - - - - - 36412 - Hypocomplementemic urticarial vasculitis - - - Preferential parent - - - - - - 37748 - Schnitzler syndrome - - - Preferential parent - - - - - - 47045 - Familial cold urticaria - - - Preferential parent - - - - - - 47612 - Felty syndrome - - - Preferential parent - - - - - - 48104 - Pyoderma gangrenosum - - - Preferential parent - - - - - - 48435 - Postinfectious vasculitis - - - Preferential parent - - - - - - 50918 - Kikuchi-Fujimoto disease - - - Preferential parent - - - - - - 52759 - Vasculitis - - - Preferential parent - - - - - - 54251 - Aseptic abscess syndrome - - - Preferential parent - - - - - - 60030 - Loeys-Dietz syndrome - - - Preferential parent - - - - - - 69126 - PAPA syndrome - - - Preferential parent - - - - - - 75392 - Periodontal Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 75497 - X-linked Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 77297 - Majeed syndrome - - - Preferential parent - - - - - - 79078 - IgG4-related dacryoadenitis and sialadenitis - - - Preferential parent - - - - - - 79099 - Interstitial granulomatous dermatitis with arthritis - - - Preferential parent - - - - - - 85408 - Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis - - - Preferential parent - - - - - - 85410 - Oligoarticular juvenile idiopathic arthritis - - - Preferential parent - - - - - - 85414 - Systemic-onset juvenile idiopathic arthritis - - - Preferential parent - - - - - - 85435 - Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis - - - Preferential parent - - - - - - 85436 - Psoriasis-related juvenile idiopathic arthritis - - - Preferential parent - - - - - - 85438 - Enthesitis-related juvenile idiopathic arthritis - - - Preferential parent - - - - - - 85443 - AL amyloidosis - - - Preferential parent - - - - - - 85445 - AA amyloidosis - - - Preferential parent - - - - - - 85446 - Wild type ABeta2M amyloidosis - - - Preferential parent - - - - - - 85448 - AGel amyloidosis - - - Preferential parent - - - - - - 90002 - Undifferentiated connective tissue syndrome - - - Preferential parent - - - - - - 90051 - Sepsis in premature infants - - - Preferential parent - - - - - - 90291 - Systemic sclerosis - - - Preferential parent - - - - - - 90340 - Blau syndrome - - - Preferential parent - - - - - - 90354 - Brittle cornea syndrome - - - Preferential parent - - - - - - 91138 - Cryoglobulinemic vasculitis - - - Preferential parent - - - - - - 91140 - Unspecified juvenile idiopathic arthritis - - - Preferential parent - - - - - - 91378 - Hereditary angioedema - - - Preferential parent - - - - - - 91385 - Acquired angioedema - - - Preferential parent - - - - - - 93552 - Pediatric systemic lupus erythematosus - - - Preferential parent - - - - - - 93554 - Mixed cryoglobulinemia type II - - - Preferential parent - - - - - - 93555 - Mixed cryoglobulinemia type III - - - Preferential parent - - - - - - 93568 - Juvenile polymyositis - - - Preferential parent - - - - - - 93665 - Autoinflammatory syndrome - - - Preferential parent - - - - - - 93672 - Juvenile dermatomyositis - - - Preferential parent - - - - - - 98249 - Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 100050 - Hereditary angioedema type 1 - - - Preferential parent - - - - - - 100051 - Hereditary angioedema type 2 - - - Preferential parent - - - - - - 100054 - F12-related hereditary angioedema with normal C1Inh - - - Preferential parent - - - - - - 100055 - Acquired angioedema type 2 - - - Preferential parent - - - - - - 100056 - Acquired angioedema type 1 - - - Preferential parent - - - - - - 100057 - Renin-angiotensin-aldosterone system-blocker-induced angioedema - - - Preferential parent - - - - - - 101995 - Periodic fever syndrome - - - Preferential parent - - - - - - 102237 - Unexplained periodic fever syndrome - - - Preferential parent - - - - - - 137807 - Primary cutaneous amyloidosis - - - Preferential parent - - - - - - 139436 - Multicentric reticulohistiocytosis - - - Preferential parent - - - - - - 156140 - Predominantly large-vessel vasculitis - - - Preferential parent - - - - - - 156143 - Predominantly medium-vessel vasculitis - - - Preferential parent - - - - - - 156146 - Predominantly small-vessel vasculitis - - - Preferential parent - - - - - - 156149 - Immune complex mediated vasculitis - - - Preferential parent - - - - - - 156152 - Anti-neutrophil cytoplasmic antibody-associated vasculitis - - - Preferential parent - - - - - - 157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 157987 - Non-Langerhans cell histiocytosis - - - Preferential parent - - - - - - 158014 - Rosaï-Dorfman disease - - - Preferential parent - - - - - - 158061 - Macrophage activation syndrome - - - Preferential parent - - - - - - 178311 - Isolated sternocostoclavicular hyperostosis - - - Preferential parent - - - - - - 182222 - Rare systemic disease - - - Preferential parent - - - - - - 182228 - Systemic autoimmune disease - - - Preferential parent - - - - - - 182231 - Rare rheumatologic disease - - - Preferential parent - - - - - - 208650 - NLRP3-associated autoinflammatory disease - - - Preferential parent - - - - - - 209007 - Systemic inflammatory disease associated with an acquired peripheral neuropathy - - - Preferential parent - - - - - - 210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis - - - Preferential parent - - - - - - 220393 - Diffuse cutaneous systemic sclerosis - - - Preferential parent - - - - - - 220402 - Limited cutaneous systemic sclerosis - - - Preferential parent - - - - - - 220407 - Limited systemic sclerosis - - - Preferential parent - - - - - - 228116 - Hughes-Stovin syndrome - - - Preferential parent - - - - - - 230839 - Classical-like Ehlers-Danlos syndrome type 1 - - - Preferential parent - - - - - - 230851 - Cardiac-valvular Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - - Preferential parent - - - - - - 231111 - Drug-induced lupus erythematosus - - - Preferential parent - - - - - - 247868 - NLRP12-associated hereditary periodic fever syndrome - - - Preferential parent - - - - - - 251304 - Infantile onset panniculitis with uveitis and systemic granulomatosis - - - Preferential parent - - - - - - 251307 - Idiopathic recurrent pericarditis - - - Preferential parent - - - - - - 251312 - Overlapping connective tissue disease - - - Preferential parent - - - - - - 251325 - Drug-induced vasculitis - - - Preferential parent - - - - - - 251328 - Unclassified vasculitis - - - Preferential parent - - - - - - 251332 - Unexplained long-lasting fever/inflammatory syndrome - - - Preferential parent - - - - - - 271861 - Hereditary ATTR amyloidosis - - - Preferential parent - - - - - - 271870 - Rare genetic systemic or rheumatologic disease - - - Preferential parent - - - - - - 279947 - Postorgasmic illness syndrome - - - Preferential parent - - - - - - 280062 - Calciphylaxis - - - Preferential parent - - - - - - 280065 - Calciphylaxis cutis - - - Preferential parent - - - - - - 280068 - Visceral calciphylaxis - - - Preferential parent - - - - - - 280342 - Rare systemic or rheumatological disease of childhood - - - Preferential parent - - - - - - 280369 - Rare pediatric vasculitis - - - Preferential parent - - - - - - 280373 - Rare pediatric systemic disease - - - Preferential parent - - - - - - 284227 - TEMPI syndrome - - - Preferential parent - - - - - - 284264 - IgG4-related disease - - - Preferential parent - - - - - - 284963 - Marfan syndrome type 1 - - - Preferential parent - - - - - - 284973 - Marfan syndrome type 2 - - - Preferential parent - - - - - - 284979 - Neonatal Marfan syndrome - - - Preferential parent - - - - - - 284984 - Aneurysm-osteoarthritis syndrome - - - Preferential parent - - - - - - 284993 - Marfan syndrome and Marfan-related disorders - - - Preferential parent - - - - - - 289390 - Primary Sjögren disease - - - Preferential parent - - - - - - 300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - - Preferential parent - - - - - - 300284 - Connective tissue disorder due to lysyl hydroxylase-3 deficiency - - - Preferential parent - - - - - - 300345 - Autosomal systemic lupus erythematosus - - - Preferential parent - - - - - - 300359 - PLCG2-associated antibody deficiency and immune dysregulation - - - Preferential parent - - - - - - 300382 - Progeroid and marfanoid aspect-lipodystrophy syndrome - - - Preferential parent - - - - - - 314652 - Variant ABeta2M amyloidosis - - - Preferential parent - - - - - - 314701 - Primary systemic amyloidosis - - - Preferential parent - - - - - - 314709 - Primary localized amyloidosis - - - Preferential parent - - - - - - 319719 - Autoinflammatory syndrome of childhood - - - Preferential parent - - - - - - 324924 - Hereditary periodic fever syndrome - - - Preferential parent - - - - - - 324927 - Pyogenic autoinflammatory syndrome - - - Preferential parent - - - - - - 324930 - Granulomatous autoinflammatory syndrome - - - Preferential parent - - - - - - 324933 - Mixed autoinflammatory and autoimmune syndrome - - - Preferential parent - - - - - - 324936 - Unclassified autoinflammatory syndrome - - - Preferential parent - - - - - - 324939 - Periodic fever syndrome of childhood - - - Preferential parent - - - - - - 324942 - Pyogenic autoinflammatory syndrome of childhood - - - Preferential parent - - - - - - 324950 - Granulomatous autoinflammatory syndrome of childhood - - - Preferential parent - - - - - - 324953 - Unclassified autoinflammatory syndrome of childhood - - - Preferential parent - - - - - - 324960 - Unexplained periodic fever syndrome of childhood - - - Preferential parent - - - - - - 324964 - Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis - - - Preferential parent - - - - - - 324972 - MAGIC syndrome - - - Preferential parent - - - - - - 324977 - Proteasome-associated autoinflammatory syndrome - - - Preferential parent - - - - - - 329967 - Intermittent hydrarthrosis - - - Preferential parent - - - - - - 330001 - Wild type ATTR amyloidosis - - - Preferential parent - - - - - - 371428 - Multicentric osteolysis-nodulosis-arthropathy spectrum - - - Preferential parent - - - - - - 398091 - Secondary neonatal autoimmune disease - - - Preferential parent - - - - - - 398097 - Neonatal antiphospholipid syndrome - - - Preferential parent - - - - - - 398109 - Neonatal autoimmune hemolytic anemia - - - Preferential parent - - - - - - 398117 - Neonatal dermatomyositis - - - Preferential parent - - - - - - 398124 - Neonatal lupus erythematosus - - - Preferential parent - - - - - - 398127 - Neonatal scleroderma - - - Preferential parent - - - - - - 401945 - Moyamoya disease with early-onset achalasia - - - Preferential parent - - - - - - 404546 - DITRA - - - Preferential parent - - - - - - 404580 - Polyarticular juvenile idiopathic arthritis - - - Preferential parent - - - - - - 425120 - STING-associated vasculopathy with onset in infancy - - - Preferential parent - - - - - - 436166 - Periodic fever-infantile enterocolitis-autoinflammatory syndrome - - - Preferential parent - - - - - - 439224 - ALECT2 amyloidosis - - - Preferential parent - - - - - - 439246 - ABeta2M amyloidosis - - - Preferential parent - - - - - - 439729 - Cutaneous polyarteritis nodosa - - - Preferential parent - - - - - - 439737 - Primary polyarteritis nodosa - - - Preferential parent - - - - - - 439746 - Secondary polyarteritis nodosa - - - Preferential parent - - - - - - 439755 - Single-organ polyarteritis nodosa - - - Preferential parent - - - - - - 439762 - Systemic polyarteritis nodosa - - - Preferential parent - - - - - - 442582 - AH amyloidosis - - - Preferential parent - - - - - - 444092 - Autoimmune interstitial lung disease-arthritis syndrome - - - Preferential parent - - - - - - 444116 - Hereditary amyloidosis - - - Preferential parent - - - - - - 444463 - Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency - - - Preferential parent - - - - - - 445197 - Secondary vasculitis - - - Preferential parent - - - - - - 449566 - Eosinophilic angiocentric fibrosis - - - Preferential parent - - - - - - 457077 - TAFRO syndrome - - - Preferential parent - - - - - - 464343 - Catastrophic antiphospholipid syndrome - - - Preferential parent - - - - - - 477647 - Type 1 interferonopathy - - - Preferential parent - - - - - - 477650 - Fibroblastic rheumatism - - - Preferential parent - - - - - - 481671 - Type 1 interferonopathy of childhood - - - Preferential parent - - - - - - 486955 - Rare pediatric rheumatologic disease - - - Preferential parent - - - - - - 500062 - Infantile-onset periodic fever-panniculitis-dermatosis syndrome - - - Preferential parent - - - - - - 521450 - LAMA5-related multisystemic syndrome - - - Preferential parent - - - - - - 528623 - Hereditary angioedema with C1Inh deficiency - - - Preferential parent - - - - - - 528647 - Hereditary angioedema with normal C1Inh - - - Preferential parent - - - - - - 528663 - Acquired angioedema with C1Inh deficiency - - - Preferential parent - - - - - - 536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 536471 - Spondylodysplastic Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 536516 - Myopathic Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 536532 - Classical-like Ehlers-Danlos syndrome type 2 - - - Preferential parent - - - - - - 536545 - Kyphoscoliotic Ehlers-Danlos syndrome - - - Preferential parent - - - - - - 537072 - PLG-related hereditary angioedema with normal C1Inh - - - Preferential parent - - - - - - 542323 - CAR T cell therapy-associated cytokine release syndrome - - - Preferential parent - - - - - - 566067 - CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome - - - Preferential parent - - - - - - 567554 - Systemic disease with glomerulopathy as a major feature - - - Preferential parent - - - - - - 567556 - Genetic systemic disease with glomerulopathy as a major feature - - - Preferential parent - - - - - - 567558 - Non-genetic systemic disease with glomerulopathy as a major feature - - - Preferential parent - - - - - - 567560 - Systemic vasculitis associated with glomerulopathy - - - Preferential parent - - - - - - 576349 - NLRC4-related familial cold autoinflammatory syndrome - - - Preferential parent - - - - - - 596448 - IgG4-related systemic disease - - - Preferential parent - - - - - - 596753 - VEXAS syndrome - - - Preferential parent - - - - - - 598363 - Multisystem inflammatory syndrome in children and adults - - - Preferential parent - - - - - - 599418 - Hereditary angioedema with normal C1Inh not related to F12 or PLG variant - - - Preferential parent - - - - - - 617919 - F12-associated cold autoinflammatory syndrome - - - Preferential parent - - - - - - 619238 - Rare hereditary autoinflammatory disease - - - Preferential parent - - - - - - 619249 - Rare hereditary connective tissue disease - - - Preferential parent - - - - - - 619363 - NOCARH syndrome - - - Preferential parent - - - - - - 619367 - SAMD9L-associated autoinflammatory syndrome - - - Preferential parent - - - - - - 622720 - Genetic autoinflammatory syndrome with skin involvement - - - Preferential parent - - - - - - 636941 - Vascular Ehlers-Danlos-polymicrogyria syndrome - - - Preferential parent - - - - - - 641380 - PAPASH syndrome - - - Preferential parent - - - - - - 641385 - PASS syndrome - - - Preferential parent - - - - - - 641390 - PsAPASH syndrome - - - Preferential parent - - - - - - 645613 - Classical dermatomyositis - - - Preferential parent - - - - - - 645617 - Amyopathic dermatomyositis - - - Preferential parent - - - - - - 645626 - Adermatopathic dermatomyositis - - - Preferential parent - - - - - - 652510 - Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa - - - Preferential parent - - - - - - 652522 - Periodic fever-immunodeficiency-thrombocytopenia syndrome - - - Preferential parent - - - - - - 653434 - Autoinflammatory syndrome with acne and/or hidradenitis suppurativa - - - Preferential parent - - - - - - 658584 - Rowell syndrome - - - Preferential parent - - - - - - 662255 - Grisel syndrome - - - Preferential parent - - - - - - 674762 - Early-onset autoinflammatory syndrome due to A20 haploinsufficiency - - - Preferential parent - - - - - - 687730 - Unifocal Langerhans cell histiocytosis - - - Preferential parent - - - - - - 687733 - Pulmonary Langerhans cell histiocytosis - - - Preferential parent - - - - - - 687738 - Single-system multifocal Langerhans cell histiocytosis - - - Preferential parent - - - - - - 687741 - Multisystem Langerhans cell histiocytosis - - - Preferential parent - - - - - - 697101 - Fontaine progeroid syndrome - - - Preferential parent - - - - - - 699605 - NEMO deleted exon 5 autoinflammatory syndrome - - - Preferential parent - - - - - - 98022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98022 - Rare headache - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98027 - Rare disease with odontological manifestation - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 98026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98026 - Rare odontologic disease - - - - - 1077 - Dental ankylosis - - - Preferential parent - - - - - - 1653 - Dentin dysplasia - - - Preferential parent - - - - - - 2024 - Hereditary gingival fibromatosis - - - Preferential parent - - - - - - 2287 - Fused mandibular incisors - - - Preferential parent - - - - - - 49042 - Dentinogenesis imperfecta - - - Preferential parent - - - - - - 67039 - Segmental odontomaxillary dysplasia - - - Preferential parent - - - - - - 77830 - Rare genetic odontologic disease - - - Preferential parent - - - - - - 83450 - Regional odontodysplasia - - - Preferential parent - - - - - - 83451 - Florid cemento-osseous dysplasia - - - Preferential parent - - - - - - 88661 - Amelogenesis imperfecta - - - Preferential parent - - - - - - 98027 - Rare disease with odontological manifestation - - - Preferential parent - - - - - - 99789 - Dentin dysplasia type I - - - Preferential parent - - - - - - 99791 - Dentin dysplasia type II - - - Preferential parent - - - - - - 99792 - Dentin dysplasia-sclerotic bones syndrome - - - Preferential parent - - - - - - 99797 - Anodontia - - - Preferential parent - - - - - - 99798 - Oligodontia - - - Preferential parent - - - - - - 100031 - Hypoplastic amelogenesis imperfecta - - - Preferential parent - - - - - - 100032 - Hypocalcified amelogenesis imperfecta - - - Preferential parent - - - - - - 100033 - Hypomaturation amelogenesis imperfecta - - - Preferential parent - - - - - - 100034 - Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism - - - Preferential parent - - - - - - 164001 - Rare odontal or periodontal disorder - - - Preferential parent - - - - - - 166260 - Dentinogenesis imperfecta type 2 - - - Preferential parent - - - - - - 166265 - Dentinogenesis imperfecta type 3 - - - Preferential parent - - - - - - 167759 - Hereditary dentin defect - - - Preferential parent - - - - - - 167762 - Rare disease with dentinogenesis imperfecta - - - Preferential parent - - - - - - 314425 - Rare odontogenic tumor - - - Preferential parent - - - - - - 314721 - Atypical dentin dysplasia due to SMOC2 deficiency - - - Preferential parent - - - - - - 412206 - Primary failure of tooth eruption - - - Preferential parent - - - - - - 420755 - Rare genetic odontal or periodontal disorder - - - Preferential parent - - - - - - 447777 - Keratocystic odontogenic tumor - - - Preferential parent - - - - - - 689430 - Adenoid ameloblastoma - - - Preferential parent - - - - - - 98028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98028 - Rare circulatory system disease - - - - - 86 - Familial abdominal aortic aneurysm - - - Preferential parent - - - - - - 1682 - Arterial dissection-lentiginosis syndrome - - - Preferential parent - - - - - - 3018 - Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome - - - Preferential parent - - - - - - 3342 - Arterial tortuosity syndrome - - - Preferential parent - - - - - - 1192 - Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - - - Preferential parent - - - - - - 229 - Familial aortic dissection - - - Preferential parent - - - - - - 1063 - Tufted angioma - - - Preferential parent - - - - - - 2122 - Kaposiform hemangioendothelioma - - - Preferential parent - - - - - - 26137 - Juvenile temporal arteritis - - - Preferential parent - - - - - - 68362 - Rare vascular disease - - - Preferential parent - - - - - - 68419 - Rare vascular anomaly - - - Preferential parent - - - - - - 51608 - Generalized arterial calcification of infancy - - - Preferential parent - - - - - - 90064 - Acute peripheral arterial occlusion - - - Preferential parent - - - - - - 211237 - Rare vascular tumor - - - Preferential parent - - - - - - 233655 - Rare genetic vascular disease - - - Preferential parent - - - - - - 285014 - Rare disease with thoracic aortic aneurysm and aortic dissection - - - Preferential parent - - - - - - 289601 - Hereditary arterial and articular multiple calcification syndrome - - - Preferential parent - - - - - - 314718 - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - - Preferential parent - - - - - - 329217 - Cerebral sinovenous thrombosis - - - Preferential parent - - - - - - 353334 - Congenital retinal arteriovenous communication - - - Preferential parent - - - - - - 404463 - Multisystemic smooth muscle dysfunction syndrome - - - Preferential parent - - - - - - 404553 - Deficiency of adenosine deaminase 2 - - - Preferential parent - - - - - - 458837 - Rare combined vascular malformation - - - Preferential parent - - - - - - 459543 - Rare genetic vascular tumor - - - Preferential parent - - - - - - 464318 - Verrucous hemangioma - - - Preferential parent - - - - - - 496924 - Non-inflammatory vasculopathy - - - Preferential parent - - - - - - 641829 - Neonatal compartment syndrome - - - Preferential parent - - - - - - 645350 - Segmental arterial mediolysis - - - Preferential parent - - - - - - 673466 - Malignant vascular tumor - - - Preferential parent - - - - - - 673470 - Benign vascular tumor - - - Preferential parent - - - - - - 673473 - Borderline vascular tumor - - - Preferential parent - - - - - - 675362 - Hobnail hemangioma - - - Preferential parent - - - - - - 675369 - Microvenular haemangioma - - - Preferential parent - - - - - - 675404 - May-Thurner syndrome - - - Preferential parent - - - - - - 675597 - Acquired elastotic haemangioma - - - Preferential parent - - - - - - 698012 - Fibromuscular dysplasia - - - Preferential parent - - - - - - 698036 - Fibromuscular dysplasia of the cervical and intracranial arteries - - - Preferential parent - - - - - - 698043 - Fibromuscular dysplasia of the renal arteries - - - Preferential parent - - - - - - 698059 - Fibromuscular dysplasia of the coronary arteries - - - Preferential parent - - - - - - 698063 - Fibromuscular dysplasia of the visceral arteries - - - Preferential parent - - - - - - 698069 - Fibromuscular dysplasia of the arteries of the extremities - - - Preferential parent - - - - - - 97678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678 - Maternal uniparental disomy of chromosome 13 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598 - Congenital renal artery stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593 - Pseudohypoparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 97567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97567 - Immunotactoid glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 97564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97564 - Pauci-immune glomerulonephritis without ANCA - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 97566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97566 - Non-amyloid fibrillary glomerulopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 97563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97563 - Pauci-immune glomerulonephritis with ANCA - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 97935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97935 - Rare gastroenterologic disease - - - - - 733 - Familial adenomatous polyposis - - - Preferential parent - - - - - - 2869 - Peutz-Jeghers syndrome - - - Preferential parent - - - - - - 930 - Idiopathic achalasia - - - Preferential parent - - - - - - 388 - Hirschsprung disease - - - Preferential parent - - - - - - 2494 - Ménétrier disease - - - Preferential parent - - - - - - 2070 - Eosinophilic gastroenteritis - - - Preferential parent - - - - - - 2929 - Juvenile polyposis syndrome - - - Preferential parent - - - - - - 676 - Autosomal dominant hereditary chronic pancreatitis - - - Preferential parent - - - - - - 1876 - Oculogastrointestinal muscular dystrophy - - - Preferential parent - - - - - - 2604 - Familial visceral myopathy - - - Preferential parent - - - - - - 2290 - Microvillus inclusion disease - - - Preferential parent - - - - - - 2575 - Cystic fibrosis-gastritis-megaloblastic anemia syndrome - - - Preferential parent - - - - - - 2881 - Cutaneous photosensitivity-lethal colitis syndrome - - - Preferential parent - - - - - - 2978 - Chronic intestinal pseudoobstruction syndrome - - - Preferential parent - - - - - - 1459 - Celiac disease-epilepsy-cerebral calcification syndrome - - - Preferential parent - - - - - - 556 - Malakoplakia - - - Preferential parent - - - - - - 1670 - Chronic diarrhea with villous atrophy - - - Preferential parent - - - - - - 35122 - Congenital sucrase-isomaltase deficiency - - - Preferential parent - - - - - - 35710 - Glucose-galactose malabsorption - - - Preferential parent - - - - - - 36204 - Intestinal lymphangiectasia - - - Preferential parent - - - - - - 53689 - Congenital chloride diarrhea - - - Preferential parent - - - - - - 53690 - Congenital lactase deficiency - - - Preferential parent - - - - - - 70475 - Radiation proctitis - - - Preferential parent - - - - - - 73014 - Intractable diarrhea of infancy - - - Preferential parent - - - - - - 79076 - Juvenile polyposis of infancy - - - Preferential parent - - - - - - 83620 - Enteric anendocrinosis - - - Preferential parent - - - - - - 84064 - Syndromic diarrhea - - - Preferential parent - - - - - - 84065 - Idiopathic malabsorption due to bile acid synthesis defects - - - Preferential parent - - - - - - 90362 - Primary intestinal lymphangiectasia - - - Preferential parent - - - - - - 90363 - Secondary intestinal lymphangiectasia - - - Preferential parent - - - - - - 92050 - Congenital tufting enteropathy - - - Preferential parent - - - - - - 94075 - Severe immune-mediated enteropathy - - - Preferential parent - - - - - - 95427 - Secondary short bowel syndrome - - - Preferential parent - - - - - - 99811 - Neuronal intestinal pseudoobstruction - - - Preferential parent - - - - - - 101936 - Rare gastroesophageal disease - - - Preferential parent - - - - - - 101937 - Rare pancreatic disease - - - Preferential parent - - - - - - 103907 - Chronic diarrhea due to glucoamylase deficiency - - - Preferential parent - - - - - - 103908 - Congenital sodium diarrhea - - - Preferential parent - - - - - - 103909 - Trehalase deficiency - - - Preferential parent - - - - - - 103910 - Congenital enterocyte heparan sulfate deficiency - - - Preferential parent - - - - - - 103918 - Tropical pancreatitis - - - Preferential parent - - - - - - 103919 - Autoimmune pancreatitis - - - Preferential parent - - - - - - 103920 - Undetermined colitis - - - Preferential parent - - - - - - 104003 - Congenital intestinal transport defect - - - Preferential parent - - - - - - 104004 - Intestinal disease due to vitamin absorption anomaly - - - Preferential parent - - - - - - 104005 - Intestinal disease due to fat malabsorption - - - Preferential parent - - - - - - 104006 - Congenital intestinal disease due to an enzymatic defect - - - Preferential parent - - - - - - 104007 - Congenital enteropathy involving intestinal mucosa development - - - Preferential parent - - - - - - 104008 - Short bowel syndrome - - - Preferential parent - - - - - - 104009 - Rare disease involving intestinal motility - - - Preferential parent - - - - - - 104010 - Intestinal polyposis syndrome - - - Preferential parent - - - - - - 104012 - Rare inflammatory bowel disease - - - Preferential parent - - - - - - 104013 - Metabolic disease with intestinal involvement - - - Preferential parent - - - - - - 104077 - Myopathic intestinal pseudoobstruction - - - Preferential parent - - - - - - 104078 - Unclassified intestinal pseudoobstruction - - - Preferential parent - - - - - - 117569 - Rare intestinal disease - - - Preferential parent - - - - - - 157794 - Hereditary mixed polyposis syndrome - - - Preferential parent - - - - - - 157798 - Serrated polyposis syndrome - - - Preferential parent - - - - - - 160148 - Cap polyposis - - - Preferential parent - - - - - - 165652 - Rare genetic gastroenterological disease - - - Preferential parent - - - - - - 165655 - Genetic intestinal disease - - - Preferential parent - - - - - - 165658 - Genetic gastro-esophageal disease - - - Preferential parent - - - - - - 165661 - Genetic pancreatic disease - - - Preferential parent - - - - - - 168601 - Congenital enteropathy due to enteropeptidase deficiency - - - Preferential parent - - - - - - 209964 - Solitary rectal ulcer syndrome - - - Preferential parent - - - - - - 217067 - Pouchitis - - - Preferential parent - - - - - - 220460 - Attenuated familial adenomatous polyposis - - - Preferential parent - - - - - - 228113 - Anal fistula - - - Preferential parent - - - - - - 231080 - High-grade dysplasia in patients with Barrett esophagus - - - Preferential parent - - - - - - 238569 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - - - Preferential parent - - - - - - 238621 - Ileal pouch anal anastomosis related faecal incontinence - - - Preferential parent - - - - - - 247798 - MUTYH-related polyposis - - - Preferential parent - - - - - - 261584 - 5q22 microdeletion syndrome - - - Preferential parent - - - - - - 263665 - NK-cell enteropathy - - - Preferential parent - - - - - - 271835 - Genetic digestive tract tumor - - - Preferential parent - - - - - - 276148 - Benign epithelial tumor of salivary glands - - - Preferential parent - - - - - - 280302 - Autoimmune pancreatitis type 1 - - - Preferential parent - - - - - - 280315 - Autoimmune pancreatitis type 2 - - - Preferential parent - - - - - - 294023 - Neonatal inflammatory skin and bowel disease - - - Preferential parent - - - - - - 294422 - Chronic intestinal failure - - - Preferential parent - - - - - - 300552 - Follicular cholangitis and pancreatitis - - - Preferential parent - - - - - - 313906 - Congenital pancreatic cyst - - - Preferential parent - - - - - - 314373 - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity - - - Preferential parent - - - - - - 314376 - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - - - Preferential parent - - - - - - 329242 - Congenital chronic diarrhea with protein-losing enteropathy - - - Preferential parent - - - - - - 329883 - Non-hypoproteinemic hypertrophic gastropathy - - - Preferential parent - - - - - - 329971 - Generalized juvenile polyposis/juvenile polyposis coli - - - Preferential parent - - - - - - 363300 - Genetic intractable diarrhea of infancy - - - Preferential parent - - - - - - 363306 - Genetic intestinal disease due to fat malabsorption - - - Preferential parent - - - - - - 363314 - Genetic intestinal polyposis - - - Preferential parent - - - - - - 365563 - Primary short bowel syndrome - - - Preferential parent - - - - - - 391673 - Necrotizing enterocolitis - - - Preferential parent - - - - - - 398063 - Refractory celiac disease - - - Preferential parent - - - - - - 401911 - AXIN2-related polyposis - - - Preferential parent - - - - - - 402029 - Primary eosinophilic gastrointestinal disease - - - Preferential parent - - - - - - 402035 - Eosinophilic colitis - - - Preferential parent - - - - - - 411696 - Proton-pump inhibitor-responsive esophageal eosinophilia - - - Preferential parent - - - - - - 425003 - Inherited digestive cancer-predisposing syndrome - - - Preferential parent - - - - - - 435988 - Chronic atrial and intestinal dysrhythmia syndrome - - - Preferential parent - - - - - - 447877 - Polymerase proofreading-related polyposis - - - Preferential parent - - - - - - 454840 - NTHL1-related polyposis - - - Preferential parent - - - - - - 468635 - Cryptogenic multifocal ulcerous stenosing enteritis - - - Preferential parent - - - - - - 468641 - Chronic enteropathy associated with SLCO2A1 gene - - - Preferential parent - - - - - - 477661 - IL21-related infantile inflammatory bowel disease - - - Preferential parent - - - - - - 480536 - MSH3-related polyposis - - - Preferential parent - - - - - - 487809 - Pediatric collagenous gastritis - - - Preferential parent - - - - - - 522037 - Primary autoimmune enteropathy - - - Preferential parent - - - - - - 522043 - Syndromic autoimmune enteropathy - - - Preferential parent - - - - - - 529977 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - - - Preferential parent - - - - - - 529980 - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - - - Preferential parent - - - - - - 558411 - Idiopathic gastroparesis - - - Preferential parent - - - - - - 563708 - Syndromic congenital sodium diarrhea - - - Preferential parent - - - - - - 565641 - Primary desmosis coli - - - Preferential parent - - - - - - 565788 - Infantile inflammatory bowel disease with neurological involvement - - - Preferential parent - - - - - - 566175 - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - - Preferential parent - - - - - - 583856 - Isolated splenic vein thrombosis - - - Preferential parent - - - - - - 583861 - Isolated mesenteric vein thrombosis - - - Preferential parent - - - - - - 597201 - TRIM22-related inflammatory bowel disease - - - Preferential parent - - - - - - 597887 - ALPI-related inflammatory bowel disease - - - Preferential parent - - - - - - 622099 - Superior mesenteric artery syndrome - - - Preferential parent - - - - - - 645793 - Spontaneous intestinal perforation - - - Preferential parent - - - - - - 695131 - Acinar cystic transformation of the pancreas - - - Preferential parent - - - - - - 697132 - Lymphoepithelial cyst of the pancreas - - - Preferential parent - - - - - - 700124 - Autosomal recessive hereditary chronic pancreatitis - - - Preferential parent - - - - - - 700133 - Idiopathic chronic pancreatitis - - - Preferential parent - - - - - - 700136 - Early-onset idiopathic chronic pancreatitis - - - Preferential parent - - - - - - 700139 - Late-onset idiopathic chronic pancreatitis - - - Preferential parent - - - - - - 97929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97929 - Rare cardiac disease - - - - - 1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - - Preferential parent - - - - - - 154 - Familial isolated dilated cardiomyopathy - - - Preferential parent - - - - - - 768 - Congenital long QT syndrome - - - Preferential parent - - - - - - 871 - Hereditary progressive cardiac conduction defect - - - Preferential parent - - - - - - 1344 - Isolated atrial standstill - - - Preferential parent - - - - - - 2022 - Endocardial fibroelastosis - - - Preferential parent - - - - - - 2119 - HEC syndrome - - - Preferential parent - - - - - - 3403 - Uhl anomaly - - - Preferential parent - - - - - - 3283 - His bundle tachycardia - - - Preferential parent - - - - - - 3286 - Catecholaminergic polymorphic ventricular tachycardia - - - Preferential parent - - - - - - 130 - Brugada syndrome - - - Preferential parent - - - - - - 247 - Inherited arrhythmogenic cardiomyopathy - - - Preferential parent - - - - - - 334 - Hereditary atrial fibrillation - - - Preferential parent - - - - - - 615 - Familial atrial myxoma - - - Preferential parent - - - - - - 563 - Peripartum cardiomyopathy - - - Preferential parent - - - - - - 3282 - Multifocal atrial tachycardia - - - Preferential parent - - - - - - 34217 - Naxos disease - - - Preferential parent - - - - - - 45452 - Idiopathic neonatal atrial flutter - - - Preferential parent - - - - - - 45453 - Incessant infant ventricular tachycardia - - - Preferential parent - - - - - - 51083 - Congenital short QT syndrome - - - Preferential parent - - - - - - 51084 - Torsade-de-pointes syndrome with short coupling interval - - - Preferential parent - - - - - - 54260 - Left ventricular noncompaction - - - Preferential parent - - - - - - 60041 - Congenital heart block - - - Preferential parent - - - - - - 65282 - Carvajal syndrome - - - Preferential parent - - - - - - 65283 - Timothy syndrome - - - Preferential parent - - - - - - 66529 - Tako-Tsubo cardiomyopathy - - - Preferential parent - - - - - - 75249 - Familial isolated restrictive cardiomyopathy - - - Preferential parent - - - - - - 75565 - Tropical endomyocardial fibrosis - - - Preferential parent - - - - - - 75566 - Loeffler endocarditis - - - Preferential parent - - - - - - 85451 - ATTRV122I amyloidosis - - - Preferential parent - - - - - - 90647 - Jervell and Lange-Nielsen syndrome - - - Preferential parent - - - - - - 97292 - Cardiogenic shock - - - Preferential parent - - - - - - 98054 - Rare genetic cardiac disease - - - Preferential parent - - - - - - 99739 - Rare familial disorder with hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 101016 - Romano-Ward syndrome - - - Preferential parent - - - - - - 101934 - Genetic cardiac rhythm disease - - - Preferential parent - - - - - - 137675 - Histiocytoid cardiomyopathy - - - Preferential parent - - - - - - 166282 - Hereditary sick sinus syndrome - - - Preferential parent - - - - - - 167848 - Rare cardiomyopathy - - - Preferential parent - - - - - - 217569 - Rare hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 217572 - Glycogen storage disease with hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 217581 - Lysosomal disease with hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 217587 - Mitochondrial disease with hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 217591 - Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 217595 - Syndrome associated with hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 217598 - Non-familial hypertrophic cardiomyopathy - - - Preferential parent - - - - - - 217604 - Dilated cardiomyopathy - - - Preferential parent - - - - - - 217607 - Familial dilated cardiomyopathy - - - Preferential parent - - - - - - 217610 - Neuromuscular disease with dilated cardiomyopathy - - - Preferential parent - - - - - - 217613 - Mitochondrial disease with dilated cardiomyopathy - - - Preferential parent - - - - - - 217616 - Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy - - - Preferential parent - - - - - - 217619 - Syndrome associated with dilated cardiomyopathy - - - Preferential parent - - - - - - 217622 - Sensorineural deafness with dilated cardiomyopathy - - - Preferential parent - - - - - - 217629 - Non-familial dilated cardiomyopathy - - - Preferential parent - - - - - - 217632 - Restrictive cardiomyopathy - - - Preferential parent - - - - - - 217635 - Familial restrictive cardiomyopathy - - - Preferential parent - - - - - - 217638 - Lysosomal disease with restrictive cardiomyopathy - - - Preferential parent - - - - - - 217656 - Inherited isolated arrhythmogenic cardiomyopathy - - - Preferential parent - - - - - - 217678 - Unclassified cardiomyopathy - - - Preferential parent - - - - - - 217720 - Non-familial restrictive cardiomyopathy - - - Preferential parent - - - - - - 218436 - Rare cardiac rhythm disease - - - Preferential parent - - - - - - 218439 - Non-genetic cardiac rhythm disease - - - Preferential parent - - - - - - 228140 - Idiopathic ventricular fibrillation - - - Preferential parent - - - - - - 263352 - Postcardiotomy right ventricular failure - - - Preferential parent - - - - - - 271841 - Genetic cardiac tumor - - - Preferential parent - - - - - - 293888 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant - - - Preferential parent - - - - - - 293899 - Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant - - - Preferential parent - - - - - - 293910 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant - - - Preferential parent - - - - - - 300751 - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - - - Preferential parent - - - - - - 324767 - Non-familial rare disease with dilated cardiomyopathy - - - Preferential parent - - - - - - 329874 - Idiopathic giant cell myocarditis - - - Preferential parent - - - - - - 352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - - Preferential parent - - - - - - 436242 - Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease - - - Preferential parent - - - - - - 439854 - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - - Preferential parent - - - - - - 458718 - Idiopathic spontaneous coronary artery dissection - - - Preferential parent - - - - - - 542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - - Preferential parent - - - - - - 565612 - Primary triglyceride deposit cardiomyovasculopathy - - - Preferential parent - - - - - - 595098 - Timothy syndrome type 1 - - - Preferential parent - - - - - - 595105 - Timothy syndrome type 2 - - - Preferential parent - - - - - - 595109 - Atypical Timothy syndrome - - - Preferential parent - - - - - - 692296 - Idiopathic triglyceride deposit cardiomyovasculopathy - - - Preferential parent - - - - - - 692305 - Triglyceride deposit cardiomyovasculopathy - - - Preferential parent - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97955 - Rare respiratory disease - - - - - 586 - Cystic fibrosis - - - Preferential parent - - - - - - 60 - Alpha-1-antitrypsin deficiency - - - Preferential parent - - - - - - 2903 - Familial spontaneous pneumothorax - - - Preferential parent - - - - - - 244 - Primary ciliary dyskinesia - - - Preferential parent - - - - - - 1164 - Allergic bronchopulmonary aspergillosis - - - Preferential parent - - - - - - 2357 - Bronchogenic cyst - - - Preferential parent - - - - - - 2302 - Asbestos intoxication - - - Preferential parent - - - - - - 133 - Chronic beryllium disease - - - Preferential parent - - - - - - 3347 - Mounier-Kühn syndrome - - - Preferential parent - - - - - - 3471 - Young syndrome - - - Preferential parent - - - - - - 3167 - Siegler-Brewer-Carey syndrome - - - Preferential parent - - - - - - 538 - Lymphangioleiomyomatosis - - - Preferential parent - - - - - - 422 - Idiopathic/heritable pulmonary arterial hypertension - - - Preferential parent - - - - - - 747 - Autoimmune pulmonary alveolar proteinosis - - - Preferential parent - - - - - - 662 - Lymphedema with yellow nails - - - Preferential parent - - - - - - 2032 - Idiopathic pulmonary fibrosis - - - Preferential parent - - - - - - 1303 - Bronchiolitis obliterans - - - Preferential parent - - - - - - 3348 - Tracheobronchopathia osteochondroplastica - - - Preferential parent - - - - - - 2902 - Idiopathic chronic eosinophilic pneumonia - - - Preferential parent - - - - - - 1302 - Cryptogenic organizing pneumonia - - - Preferential parent - - - - - - 724 - Idiopathic acute eosinophilic pneumonia - - - Preferential parent - - - - - - 31740 - Hypersensitivity pneumonitis - - - Preferential parent - - - - - - 31837 - Pulmonary venoocclusive disease - - - Preferential parent - - - - - - 60025 - Pulmonary alveolar microlithiasis - - - Preferential parent - - - - - - 60026 - Pulmonary nodular lymphoid hyperplasia - - - Preferential parent - - - - - - 60032 - Recurrent respiratory papillomatosis - - - Preferential parent - - - - - - 60033 - Idiopathic bronchiectasis - - - Preferential parent - - - - - - 63999 - IgG4-related mediastinitis - - - Preferential parent - - - - - - 70578 - Adult acute respiratory distress syndrome - - - Preferential parent - - - - - - 70588 - Meconium aspiration syndrome - - - Preferential parent - - - - - - 70589 - Bronchopulmonary dysplasia - - - Preferential parent - - - - - - 70590 - Infantile apnea - - - Preferential parent - - - - - - 70591 - Chronic thromboembolic pulmonary hypertension - - - Preferential parent - - - - - - 71198 - Rare pulmonary hypertension - - - Preferential parent - - - - - - 79126 - Acute interstitial pneumonia - - - Preferential parent - - - - - - 79127 - Respiratory bronchiolitis-interstitial lung disease syndrome - - - Preferential parent - - - - - - 79128 - Lymphoid interstitial pneumonia - - - Preferential parent - - - - - - 90060 - Diffuse alveolar hemorrhage - - - Preferential parent - - - - - - 90066 - Pneumonia caused by Pseudomonas aeruginosa infection - - - Preferential parent - - - - - - 91359 - Chronic pneumonitis of infancy - - - Preferential parent - - - - - - 91364 - Non-specific interstitial pneumonia - - - Preferential parent - - - - - - 98052 - Rare allergic respiratory disease - - - Preferential parent - - - - - - 98300 - Idiopathic interstitial pneumonia - - - Preferential parent - - - - - - 98852 - Desquamative interstitial pneumonia - - - Preferential parent - - - - - - 99930 - Secondary pulmonary hemosiderosis - - - Preferential parent - - - - - - 99931 - Idiopathic pulmonary hemosiderosis - - - Preferential parent - - - - - - 99932 - Heiner syndrome - - - Preferential parent - - - - - - 99981 - Apnea of prematurity - - - Preferential parent - - - - - - 100049 - Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies - - - Preferential parent - - - - - - 101944 - Rare pulmonary disease - - - Preferential parent - - - - - - 137631 - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - - Preferential parent - - - - - - 140896 - Severe acute respiratory syndrome - - - Preferential parent - - - - - - 156610 - Rare genetic respiratory disease - - - Preferential parent - - - - - - 171700 - Diffuse panbronchiolitis - - - Preferential parent - - - - - - 178320 - Acute lung injury - - - Preferential parent - - - - - - 182090 - Pulmonary arterial hypertension - - - Preferential parent - - - - - - 182095 - Interstitial lung disease - - - Preferential parent - - - - - - 182098 - Pneumoconiosis - - - Preferential parent - - - - - - 182101 - Idiopathic eosinophilic pneumonia - - - Preferential parent - - - - - - 182104 - Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease - - - Preferential parent - - - - - - 199241 - Pulmonary capillary hemangiomatosis - - - Preferential parent - - - - - - 210122 - Congenital alveolar capillary dysplasia - - - Preferential parent - - - - - - 210136 - Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome - - - Preferential parent - - - - - - 217080 - Pulmonary fungal infections in patients deemed at risk - - - Preferential parent - - - - - - 217557 - Pulmonary interstitial glycogenosis - - - Preferential parent - - - - - - 217560 - Neuroendocrine cell hyperplasia of infancy - - - Preferential parent - - - - - - 217563 - Neonatal acute respiratory distress syndrome - - - Preferential parent - - - - - - 217566 - Chronic respiratory distress with surfactant metabolism deficiency - - - Preferential parent - - - - - - 247522 - Primary ciliary dyskinesia-retinitis pigmentosa syndrome - - - Preferential parent - - - - - - 264656 - Interstitial lung disease specific to childhood - - - Preferential parent - - - - - - 264665 - Primary interstitial lung disease specific to childhood - - - Preferential parent - - - - - - 264670 - Primary interstitial lung disease specific to childhood due to alveolar structure disorder - - - Preferential parent - - - - - - 264675 - Hereditary pulmonary alveolar proteinosis - - - Preferential parent - - - - - - 264683 - Primary interstitial lung disease specific to childhood due to alveolar vascular disorder - - - Preferential parent - - - - - - 264688 - Congenital chylothorax - - - Preferential parent - - - - - - 264691 - Isolated pulmonary capillaritis - - - Preferential parent - - - - - - 264694 - Interstitial lung disease specific to infancy - - - Preferential parent - - - - - - 264699 - Secondary interstitial lung disease specific to childhood associated with a systemic disease - - - Preferential parent - - - - - - 264704 - Secondary interstitial lung disease specific to childhood associated with a connective tissue disease - - - Preferential parent - - - - - - 264709 - Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis - - - Preferential parent - - - - - - 264714 - Secondary interstitial lung disease specific to childhood associated with a granulomatous disease - - - Preferential parent - - - - - - 264719 - Secondary interstitial lung disease specific to childhood associated with a metabolic disease - - - Preferential parent - - - - - - 264735 - Interstitial lung disease specific to adulthood - - - Preferential parent - - - - - - 264740 - Primary interstitial lung disease specific to adulthood - - - Preferential parent - - - - - - 264745 - Secondary interstitial lung disease specific to adulthood associated with a systemic disease - - - Preferential parent - - - - - - 264757 - Interstitial lung disease in childhood and adulthood - - - Preferential parent - - - - - - 264762 - Primary interstitial lung disease in childhood and adulthood - - - Preferential parent - - - - - - 264930 - Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder - - - Preferential parent - - - - - - 264935 - Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder - - - Preferential parent - - - - - - 264944 - Secondary interstitial lung disease in childhood and adulthood - - - Preferential parent - - - - - - 264949 - Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease - - - Preferential parent - - - - - - 264968 - Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease - - - Preferential parent - - - - - - 264973 - Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis - - - Preferential parent - - - - - - 264978 - Drug or radiation exposure-related interstitial lung disease - - - Preferential parent - - - - - - 264984 - Exposure-related interstitial lung disease - - - Preferential parent - - - - - - 264992 - Genetic interstitial lung disease - - - Preferential parent - - - - - - 275766 - Idiopathic pulmonary arterial hypertension - - - Preferential parent - - - - - - 275777 - Heritable pulmonary arterial hypertension - - - Preferential parent - - - - - - 275786 - Drug- or toxin-induced pulmonary arterial hypertension - - - Preferential parent - - - - - - 275791 - Pulmonary arterial hypertension associated with another disease - - - Preferential parent - - - - - - 275798 - Pulmonary arterial hypertension associated with connective tissue disease - - - Preferential parent - - - - - - 275803 - Pulmonary arterial hypertension associated with congenital heart disease - - - Preferential parent - - - - - - 275808 - Pulmonary arterial hypertension associated with HIV infection - - - Preferential parent - - - - - - 275813 - Pulmonary arterial hypertension associated with portal hypertension - - - Preferential parent - - - - - - 275823 - Pulmonary arterial hypertension associated with schistosomiasis - - - Preferential parent - - - - - - 275828 - Pulmonary arterial hypertension associated with chronic hemolytic anemia - - - Preferential parent - - - - - - 275837 - Pulmonary hypertension owing to lung disease and/or hypoxia - - - Preferential parent - - - - - - 275844 - Pulmonary hypertension with unclear multifactorial mechanism - - - Preferential parent - - - - - - 275853 - Syndrome with pulmonary hypertension as a major feature - - - Preferential parent - - - - - - 300564 - Combined pulmonary fibrosis-emphysema syndrome - - - Preferential parent - - - - - - 330012 - High altitude pulmonary edema - - - Preferential parent - - - - - - 420259 - Secondary pulmonary alveolar proteinosis - - - Preferential parent - - - - - - 431353 - Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis - - - Preferential parent - - - - - - 439881 - Plastic bronchitis - - - Preferential parent - - - - - - 440392 - Interstitial lung disease due to SP-C deficiency - - - Preferential parent - - - - - - 440402 - Interstitial lung disease due to ABCA3 deficiency - - - Preferential parent - - - - - - 440427 - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency - - - Preferential parent - - - - - - 449266 - Pleural empyema - - - Preferential parent - - - - - - 494428 - Idiopathic pleuroparenchymal fibroelastosis - - - Preferential parent - - - - - - 505395 - Ventilator-induced diaphragmatic dysfunction - - - Preferential parent - - - - - - 572428 - Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia - - - Preferential parent - - - - - - 576074 - Middle East respiratory syndrome - - - Preferential parent - - - - - - 617916 - Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia - - - Preferential parent - - - - - - 621758 - Fibrosis-neurodegeneration-cerebral angiomatosis syndrome - - - Preferential parent - - - - - - 658602 - Transplant-related bronchiolitis obliterans - - - Preferential parent - - - - - - 658612 - Non-transplant-related bronchiolitis obliterans - - - Preferential parent - - - - - - 685082 - Pediatric acute respiratory distress syndrome - - - Preferential parent - - - - - - 686462 - Non-fibrotic hypersensitivity pneumonitis - - - Preferential parent - - - - - - 686465 - Fibrotic hypersensitivity pneumonitis - - - Preferential parent - - - - - - 97945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97945 - Intestinal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97944 - Gastroduodenal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 97966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97966 - Rare ophthalmic disorder - - - - - 792 - X-linked retinoschisis - - - Preferential parent - - - - - - 827 - Stargardt disease - - - Preferential parent - - - - - - 104 - Leber hereditary optic neuropathy - - - Preferential parent - - - - - - 16 - Blue cone monochromatism - - - Preferential parent - - - - - - 1000 - Ocular albinism with late-onset sensorineural deafness - - - Preferential parent - - - - - - 1885 - Isolated ectopia lentis - - - Preferential parent - - - - - - 2253 - Foveal hypoplasia-presenile cataract syndrome - - - Preferential parent - - - - - - 2744 - Horizontal gaze palsy with progressive scoliosis - - - Preferential parent - - - - - - 54 - X-linked recessive ocular albinism - - - Preferential parent - - - - - - 791 - Retinitis pigmentosa - - - Preferential parent - - - - - - 2334 - Autosomal dominant keratitis - - - Preferential parent - - - - - - 1482 - Gonococcal conjunctivitis - - - Preferential parent - - - - - - 180 - Choroideremia - - - Preferential parent - - - - - - 215 - Congenital stationary night blindness - - - Preferential parent - - - - - - 233 - Duane retraction syndrome - - - Preferential parent - - - - - - 1021 - Amaurosis-hypertrichosis syndrome - - - Preferential parent - - - - - - 1125 - Ocular motor apraxia, Cogan type - - - Preferential parent - - - - - - 1215 - Autosomal dominant optic atrophy plus syndrome - - - Preferential parent - - - - - - 163 - Hereditary hyperferritinemia-cataract syndrome - - - Preferential parent - - - - - - 1573 - Hypotrichosis with juvenile macular degeneration - - - Preferential parent - - - - - - 1574 - Retinal degeneration-nanophthalmos-glaucoma syndrome - - - Preferential parent - - - - - - 1661 - X-linked corneal dermoid - - - Preferential parent - - - - - - 1852 - X-linked retinal dysplasia - - - Preferential parent - - - - - - 1871 - Progressive cone dystrophy - - - Preferential parent - - - - - - 1872 - Cone rod dystrophy - - - Preferential parent - - - - - - 2085 - Glaucoma-sleep apnea syndrome - - - Preferential parent - - - - - - 2235 - Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - - - Preferential parent - - - - - - 2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - - Preferential parent - - - - - - 2989 - Familial pterygium of the conjunctiva - - - Preferential parent - - - - - - 2997 - Ptosis-vocal cord paralysis syndrome - - - Preferential parent - - - - - - 2999 - Ptosis-strabismus-ectopic pupils syndrome - - - Preferential parent - - - - - - 3086 - Autosomal dominant vitreoretinochoroidopathy - - - Preferential parent - - - - - - 3177 - Spinocerebellar degeneration-corneal dystrophy syndrome - - - Preferential parent - - - - - - 3374 - Unilateral ocular duplication - - - Preferential parent - - - - - - 1884 - Ectopia lentis-chorioretinal dystrophy-myopia syndrome - - - Preferential parent - - - - - - 65 - Leber congenital amaurosis - - - Preferential parent - - - - - - 414 - Gyrate atrophy of choroid and retina - - - Preferential parent - - - - - - 179 - Birdshot chorioretinopathy - - - Preferential parent - - - - - - 359 - Pediatric-onset glaucoma of genetic origin - - - Preferential parent - - - - - - 2542 - Isolated microphthalmia-anophthalmia-coloboma - - - Preferential parent - - - - - - 1243 - Best vitelliform macular dystrophy - - - Preferential parent - - - - - - 891 - Familial exudative vitreoretinopathy - - - Preferential parent - - - - - - 162 - Congenital cataract-anterior segment dysgenesis syndrome - - - Preferential parent - - - - - - 34533 - Corneal dystrophy - - - Preferential parent - - - - - - 35686 - Serpiginous choroiditis - - - Preferential parent - - - - - - 40923 - Eales disease - - - Preferential parent - - - - - - 41751 - Bietti crystalline dystrophy - - - Preferential parent - - - - - - 45358 - Congenital fibrosis of extraocular muscles - - - Preferential parent - - - - - - 49382 - Achromatopsia - - - Preferential parent - - - - - - 52427 - Retinitis punctata albescens - - - Preferential parent - - - - - - 53691 - Congenital cornea plana - - - Preferential parent - - - - - - 59181 - Sorsby pseudoinflammatory fundus dystrophy - - - Preferential parent - - - - - - 63454 - Pattern dystrophy - - - Preferential parent - - - - - - 64686 - Tolosa-Hunt syndrome - - - Preferential parent - - - - - - 64734 - Iridocorneal endothelial syndrome - - - Preferential parent - - - - - - 67036 - Autosomal dominant optic atrophy and cataract - - - Preferential parent - - - - - - 67042 - Late-onset retinal degeneration - - - Preferential parent - - - - - - 69736 - Bilateral acute depigmentation of the iris - - - Preferential parent - - - - - - 70476 - Vernal keratoconjunctivitis - - - Preferential parent - - - - - - 71213 - Retinal capillary malformation - - - Preferential parent - - - - - - 71505 - Cancer-associated retinopathy - - - Preferential parent - - - - - - 71862 - Inherited retinal disorder - - - Preferential parent - - - - - - 73256 - Central neurocytoma - - - Preferential parent - - - - - - 75327 - North Carolina macular dystrophy - - - Preferential parent - - - - - - 75373 - Progressive bifocal chorioretinal atrophy - - - Preferential parent - - - - - - 75374 - Bradyopsia - - - Preferential parent - - - - - - 75376 - Familial drusen - - - Preferential parent - - - - - - 75377 - Central areolar choroidal dystrophy - - - Preferential parent - - - - - - 75378 - Oligocone trichromacy - - - Preferential parent - - - - - - 75381 - Cystoid macular dystrophy - - - Preferential parent - - - - - - 75382 - Oguchi disease - - - Preferential parent - - - - - - 79098 - Sympathetic ophthalmia - - - Preferential parent - - - - - - 79149 - Dermochondrocorneal dystrophy - - - Preferential parent - - - - - - 85128 - Bothnia retinal dystrophy - - - Preferential parent - - - - - - 86813 - Helicoid peripapillary chorioretinal degeneration - - - Preferential parent - - - - - - 86815 - Aplasia of lacrimal and salivary glands - - - Preferential parent - - - - - - 88629 - Tritanopia - - - Preferential parent - - - - - - 88633 - Superior limbic keratoconjunctivitis - - - Preferential parent - - - - - - 90001 - X-linked cone dysfunction syndrome with myopia - - - Preferential parent - - - - - - 90050 - Retinopathy of prematurity - - - Preferential parent - - - - - - 90061 - Non-infectious posterior uveitis - - - Preferential parent - - - - - - 90080 - Scarring in glaucoma filtration surgical procedures - - - Preferential parent - - - - - - 91411 - Congenital ptosis - - - Preferential parent - - - - - - 91412 - Marcus-Gunn syndrome - - - Preferential parent - - - - - - 91413 - Congenital Horner syndrome - - - Preferential parent - - - - - - 91481 - Ring dermoid of cornea - - - Preferential parent - - - - - - 91492 - Early onset non-syndromic cataract - - - Preferential parent - - - - - - 91495 - Persistent hyperplastic primary vitreous - - - Preferential parent - - - - - - 91496 - Snowflake vitreoretinal degeneration - - - Preferential parent - - - - - - 91498 - Familial congenital palsy of trochlear nerve - - - Preferential parent - - - - - - 94058 - Neovascular glaucoma - - - Preferential parent - - - - - - 97341 - Persistent placoid maculopathy - - - Preferential parent - - - - - - 98571 - Secondary ectropion - - - Preferential parent - - - - - - 98578 - Rare disorder with ptosis - - - Preferential parent - - - - - - 98602 - Rare disorder of the lacrimal apparatus - - - Preferential parent - - - - - - 98604 - Congenital alacrima - - - Preferential parent - - - - - - 98605 - Lacrimal drainage system anomaly - - - Preferential parent - - - - - - 98606 - Syndromic orbital border hypoplasia - - - Preferential parent - - - - - - 98610 - Rare disorder with conjunctival involvement as a major feature - - - Preferential parent - - - - - - 98618 - Rare refraction anomaly - - - Preferential parent - - - - - - 98619 - Rare isolated myopia - - - Preferential parent - - - - - - 98621 - Rare hyperopia and astigmatism - - - Preferential parent - - - - - - 98622 - Syndromic hyperopia - - - Preferential parent - - - - - - 98623 - Syndromic keratoconus - - - Preferential parent - - - - - - 98625 - Superficial corneal dystrophy - - - Preferential parent - - - - - - 98626 - Stromal corneal dystrophy - - - Preferential parent - - - - - - 98627 - Posterior corneal dystrophy - - - Preferential parent - - - - - - 98628 - Syndromic corneal dystrophy - - - Preferential parent - - - - - - 98638 - Rare disease with glaucoma as a major feature - - - Preferential parent - - - - - - 98639 - Rare lens disease - - - Preferential parent - - - - - - 98640 - Rare disorder with lens opacification - - - Preferential parent - - - - - - 98641 - Syndromic cataract - - - Preferential parent - - - - - - 98642 - Chromosomal anomaly with cataract - - - Preferential parent - - - - - - 98644 - Metabolic disease with cataract - - - Preferential parent - - - - - - 98646 - Renal disease with cataract - - - Preferential parent - - - - - - 98648 - Musculoskeletal disease with cataract - - - Preferential parent - - - - - - 98649 - Dentocutaneous disease with cataract - - - Preferential parent - - - - - - 98650 - Craniofacial anomaly with cataract - - - Preferential parent - - - - - - 98653 - Lens position anomaly - - - Preferential parent - - - - - - 98658 - Color-vision disease - - - Preferential parent - - - - - - 98661 - Syndromic rod-cone dystrophy - - - Preferential parent - - - - - - 98668 - Vitreoretinopathy - - - Preferential parent - - - - - - 98671 - Hereditary optic neuropathy - - - Preferential parent - - - - - - 98672 - Autosomal dominant optic atrophy - - - Preferential parent - - - - - - 98673 - Autosomal dominant optic atrophy, classic form - - - Preferential parent - - - - - - 98676 - Autosomal recessive isolated optic atrophy - - - Preferential parent - - - - - - 98681 - Rare disorder with strabismus - - - Preferential parent - - - - - - 98683 - Syndromic disorder with strabismus - - - Preferential parent - - - - - - 98684 - Craniostenosis with strabismus - - - Preferential parent - - - - - - 98685 - Rare oculomotor nerve disorder - - - Preferential parent - - - - - - 98686 - Congenital trochlear nerve palsy - - - Preferential parent - - - - - - 98687 - Supranuclear eye movement disorder - - - Preferential parent - - - - - - 98688 - Oculomotor apraxia - - - Preferential parent - - - - - - 98706 - Oculocutaneous or ocular albinism - - - Preferential parent - - - - - - 98715 - Uveitis - - - Preferential parent - - - - - - 98951 - Inverse Marcus-Gunn phenomenon - - - Preferential parent - - - - - - 98954 - Meesmann corneal dystrophy - - - Preferential parent - - - - - - 98955 - Lisch epithelial corneal dystrophy - - - Preferential parent - - - - - - 98956 - Epithelial basement membrane dystrophy - - - Preferential parent - - - - - - 98957 - Gelatinous drop-like corneal dystrophy - - - Preferential parent - - - - - - 98958 - Climatic droplet keratopathy - - - Preferential parent - - - - - - 98959 - Subepithelial mucinous corneal dystrophy - - - Preferential parent - - - - - - 98960 - Thiel-Behnke corneal dystrophy - - - Preferential parent - - - - - - 98961 - Reis-Bücklers corneal dystrophy - - - Preferential parent - - - - - - 98962 - Granular corneal dystrophy type I - - - Preferential parent - - - - - - 98963 - Granular corneal dystrophy type II - - - Preferential parent - - - - - - 98964 - Lattice corneal dystrophy type I - - - Preferential parent - - - - - - 98967 - Schnyder corneal dystrophy - - - Preferential parent - - - - - - 98969 - Macular corneal dystrophy - - - Preferential parent - - - - - - 98970 - Fleck corneal dystrophy - - - Preferential parent - - - - - - 98971 - Posterior amorphous corneal dystrophy - - - Preferential parent - - - - - - 98972 - Central cloudy dystrophy of François - - - Preferential parent - - - - - - 98973 - Posterior polymorphous corneal dystrophy - - - Preferential parent - - - - - - 98974 - Fuchs endothelial corneal dystrophy - - - Preferential parent - - - - - - 98976 - Congenital glaucoma - - - Preferential parent - - - - - - 98977 - Juvenile glaucoma - - - Preferential parent - - - - - - 98979 - Chandler syndrome - - - Preferential parent - - - - - - 98980 - Cogan-Reese syndrome - - - Preferential parent - - - - - - 98981 - Essential iris atrophy - - - Preferential parent - - - - - - 98984 - Pulverulent cataract - - - Preferential parent - - - - - - 98985 - Early-onset sutural cataract - - - Preferential parent - - - - - - 98988 - Early-onset anterior polar cataract - - - Preferential parent - - - - - - 98989 - Cerulean cataract - - - Preferential parent - - - - - - 98990 - Coralliform cataract - - - Preferential parent - - - - - - 98991 - Early-onset nuclear cataract - - - Preferential parent - - - - - - 98992 - Early-onset partial cataract - - - Preferential parent - - - - - - 98993 - Early-onset posterior polar cataract - - - Preferential parent - - - - - - 98994 - Total early-onset cataract - - - Preferential parent - - - - - - 98995 - Early-onset zonular cataract - - - Preferential parent - - - - - - 99000 - Adult-onset foveomacular vitelliform dystrophy - - - Preferential parent - - - - - - 99001 - Butterfly-shaped pigment dystrophy - - - Preferential parent - - - - - - 99002 - Reticular dystrophy of the retinal pigment epithelium - - - Preferential parent - - - - - - 99003 - Multifocal pattern dystrophy simulating fundus flavimaculatus - - - Preferential parent - - - - - - 99004 - Fundus pulverulentus - - - Preferential parent - - - - - - 99169 - Epiblepharon - - - Preferential parent - - - - - - 99170 - Tarsal kink syndrome - - - Preferential parent - - - - - - 99171 - Isolated congenital ectropion - - - Preferential parent - - - - - - 99172 - Euryblepharon - - - Preferential parent - - - - - - 99176 - Congenital eyelid retraction - - - Preferential parent - - - - - - 99179 - Kandori fleck retina - - - Preferential parent - - - - - - 99718 - Leber plus disease - - - Preferential parent - - - - - - 99922 - Ocular cicatricial pemphigoid - - - Preferential parent - - - - - - 101068 - Congenital stromal corneal dystrophy - - - Preferential parent - - - - - - 101104 - Marin-Amat syndrome - - - Preferential parent - - - - - - 101435 - Rare genetic eye disease - - - Preferential parent - - - - - - 137593 - Infectious epithelial keratitis - - - Preferential parent - - - - - - 137596 - Neurotrophic keratopathy - - - Preferential parent - - - - - - 137599 - Herpes simplex virus stromal keratitis - - - Preferential parent - - - - - - 137602 - Corneal endotheliitis - - - Preferential parent - - - - - - 137672 - Pellucid marginal degeneration - - - Preferential parent - - - - - - 137905 - Syndromic optic nerve hypoplasia - - - Preferential parent - - - - - - 139455 - Autosomal recessive bestrophinopathy - - - Preferential parent - - - - - - 140653 - Neuro-ophthalmological disease - - - Preferential parent - - - - - - 156005 - Primary early-onset glaucoma - - - Preferential parent - - - - - - 156165 - Retinal ciliopathy - - - Preferential parent - - - - - - 156168 - Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene - - - Preferential parent - - - - - - 156171 - Retinal ciliopathy due to mutation in the RPGR gene - - - Preferential parent - - - - - - 156174 - Retinal ciliopathy due to mutation in the RPGRIP gene - - - Preferential parent - - - - - - 156177 - Retinal ciliopathy due to mutation in Usher gene - - - Preferential parent - - - - - - 156180 - Retinal ciliopathy due to mutation in nephronophthisis gene - - - Preferential parent - - - - - - 156183 - Retinal ciliopathy due to mutation in Bardet-Biedl gene - - - Preferential parent - - - - - - 157962 - Oculoauricular syndrome, Schorderet type - - - Preferential parent - - - - - - 163934 - Atopic keratoconjunctivitis - - - Preferential parent - - - - - - 171673 - Limbal stem cell deficiency - - - Preferential parent - - - - - - 178333 - Åland Islands eye disease - - - Preferential parent - - - - - - 183607 - Genetic lens and zonula anomaly - - - Preferential parent - - - - - - 183616 - Genetic neuro-ophthalmological disease - - - Preferential parent - - - - - - 183619 - Genetic eye tumor - - - Preferential parent - - - - - - 199323 - Endophthalmitis - - - Preferential parent - - - - - - 209867 - Autosomal dominant rhegmatogenous retinal detachment - - - Preferential parent - - - - - - 209932 - Cone dystrophy with supernormal rod response - - - Preferential parent - - - - - - 209943 - IRVAN syndrome - - - Preferential parent - - - - - - 209956 - Idiopathic uveal effusion syndrome - - - Preferential parent - - - - - - 209959 - Phacoanaphylactic uveitis - - - Preferential parent - - - - - - 227796 - Fundus albipunctatus - - - Preferential parent - - - - - - 227976 - Autosomal recessive optic atrophy, OPA7 type - - - Preferential parent - - - - - - 228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - - Preferential parent - - - - - - 231736 - Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome - - - Preferential parent - - - - - - 238763 - Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - - - Preferential parent - - - - - - 247834 - Occult macular dystrophy - - - Preferential parent - - - - - - 250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - - Preferential parent - - - - - - 251279 - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome - - - Preferential parent - - - - - - 251287 - Benign concentric annular macular dystrophy - - - Preferential parent - - - - - - 251295 - Pigmented paravenous retinochoroidal atrophy - - - Preferential parent - - - - - - 263347 - MRCS syndrome - - - Preferential parent - - - - - - 263479 - Fuchs heterochromic iridocyclitis - - - Preferential parent - - - - - - 279882 - Spasmus nutans - - - Preferential parent - - - - - - 279888 - Acute endophthalmitis - - - Preferential parent - - - - - - 279891 - Chronic endophthalmitis - - - Preferential parent - - - - - - 279894 - Toxic maculopathy due to antimalarial drugs - - - Preferential parent - - - - - - 279914 - Intermediate uveitis - - - Preferential parent - - - - - - 279919 - Infectious posterior uveitis - - - Preferential parent - - - - - - 279922 - Infectious anterior uveitis - - - Preferential parent - - - - - - 279925 - Infectious panuveitis - - - Preferential parent - - - - - - 279928 - Paraneoplastic uveitis - - - Preferential parent - - - - - - 280886 - Anterior uveitis - - - Preferential parent - - - - - - 280892 - Posterior uveitis - - - Preferential parent - - - - - - 280898 - Panuveitis - - - Preferential parent - - - - - - 280914 - Isolated idiopathic anterior uveitis - - - Preferential parent - - - - - - 280917 - Idiopathic posterior uveitis - - - Preferential parent - - - - - - 280921 - Idiopathic panuveitis - - - Preferential parent - - - - - - 280926 - Systemic diseases with anterior uveitis - - - Preferential parent - - - - - - 280930 - Systemic diseases with posterior uveitis - - - Preferential parent - - - - - - 280933 - Systemic diseases with panuveitis - - - Preferential parent - - - - - - 284247 - Familial retinal arterial macroaneurysm - - - Preferential parent - - - - - - 284454 - Acute zonal occult outer retinopathy - - - Preferential parent - - - - - - 284460 - Acute annular outer retinopathy - - - Preferential parent - - - - - - 284804 - Ocular albinism - - - Preferential parent - - - - - - 284811 - Syndromic oculocutaneous albinism - - - Preferential parent - - - - - - 289499 - Congenital cataract microcornea with corneal opacity - - - Preferential parent - - - - - - 293375 - Grayson-Wilbrandt corneal dystrophy - - - Preferential parent - - - - - - 293381 - Epithelial recurrent erosion dystrophy - - - Preferential parent - - - - - - 293462 - Pre-Descemet corneal dystrophy - - - Preferential parent - - - - - - 293603 - Congenital hereditary endothelial dystrophy type II - - - Preferential parent - - - - - - 293621 - X-linked endothelial corneal dystrophy - - - Preferential parent - - - - - - 293936 - EDICT syndrome - - - Preferential parent - - - - - - 306648 - Non-infectious anterior uveitis - - - Preferential parent - - - - - - 313800 - Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - - - Preferential parent - - - - - - 314017 - Idiopathic linear interstitial keratitis - - - Preferential parent - - - - - - 319640 - Retinal macular dystrophy type 2 - - - Preferential parent - - - - - - 319667 - Primary lymphoma of the conjunctiva - - - Preferential parent - - - - - - 329211 - Autosomal dominant neovascular inflammatory vitreoretinopathy - - - Preferential parent - - - - - - 352657 - Hereditary benign intraepithelial dyskeratosis - - - Preferential parent - - - - - - 352662 - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome - - - Preferential parent - - - - - - 352718 - Progressive retinal dystrophy due to retinol transport defect - - - Preferential parent - - - - - - 353344 - Idiopathic macular telangiectasia type 1 - - - Preferential parent - - - - - - 353351 - Idiopathic macular telangiectasia type 3 - - - Preferential parent - - - - - - 353356 - Vasoproliferative tumor of the retina - - - Preferential parent - - - - - - 363989 - Familial benign flecked retina - - - Preferential parent - - - - - - 364055 - Severe early-childhood-onset retinal dystrophy - - - Preferential parent - - - - - - 369970 - Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - - - Preferential parent - - - - - - 397618 - Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - - - Preferential parent - - - - - - 397758 - Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - - - Preferential parent - - - - - - 401777 - Optic atrophy-intellectual disability syndrome - - - Preferential parent - - - - - - 411527 - Central retinal vein occlusion - - - Preferential parent - - - - - - 412022 - Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome - - - Preferential parent - - - - - - 420556 - Visual snow syndrome - - - Preferential parent - - - - - - 436245 - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - - Preferential parent - - - - - - 436274 - Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - - - Preferential parent - - - - - - 440221 - Congenital oculomotor nerve palsy - - - Preferential parent - - - - - - 440233 - Congenital abducens nerve palsy - - - Preferential parent - - - - - - 440724 - Extensive peripapillary myelinated nerve fibers - - - Preferential parent - - - - - - 440727 - Combined hamartoma of the retina and retinal pigment epithelium - - - Preferential parent - - - - - - 441434 - Syndromic hereditary optic neuropathy - - - Preferential parent - - - - - - 441447 - Early-onset posterior subcapsular cataract - - - Preferential parent - - - - - - 441452 - Early-onset lamellar cataract - - - Preferential parent - - - - - - 443079 - Central serous chorioretinopathy - - - Preferential parent - - - - - - 447788 - Cerebral visual impairment - - - Preferential parent - - - - - - 449563 - IgG4-related ophthalmic disease - - - Preferential parent - - - - - - 454718 - Holmes-Adie syndrome - - - Preferential parent - - - - - - 464760 - Familial cavitary optic disc anomaly - - - Preferential parent - - - - - - 466682 - Euthyroid Graves orbitopathy - - - Preferential parent - - - - - - 466718 - Martinique crinkled retinal pigment epitheliopathy - - - Preferential parent - - - - - - 468672 - Colobomatous macrophthalmia-microcornea syndrome - - - Preferential parent - - - - - - 482092 - Rare idiopathic macular telangiectasia - - - Preferential parent - - - - - - 488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - - Preferential parent - - - - - - 488239 - Acute macular neuroretinopathy - - - Preferential parent - - - - - - 499047 - Autoimmune/inflammatory optic neuropathy - - - Preferential parent - - - - - - 499085 - Chronic relapsing inflammatory optic neuritis - - - Preferential parent - - - - - - 499096 - Isolated optic neuritis - - - Preferential parent - - - - - - 499103 - Recurrent idiopathic neuroretinitis - - - Preferential parent - - - - - - 499107 - Idiopathic optic perineuritis - - - Preferential parent - - - - - - 519264 - Inflammatory/autoimmune disorder involving the lacrimal system - - - Preferential parent - - - - - - 519266 - Rare disorder of the ocular adnexa - - - Preferential parent - - - - - - 519268 - Rare disorder with ectropion - - - Preferential parent - - - - - - 519270 - Rare disorder with entropion - - - Preferential parent - - - - - - 519278 - Infective keratitis - - - Preferential parent - - - - - - 519280 - Rare conjunctivitis - - - Preferential parent - - - - - - 519282 - Rare corneal disorder - - - Preferential parent - - - - - - 519284 - Rare disorder of the anterior segment of the eye - - - Preferential parent - - - - - - 519286 - Rare disorder of the pupil - - - Preferential parent - - - - - - 519288 - Rare disorder with corneal involvement as a major feature - - - Preferential parent - - - - - - 519290 - Rare inflammatory/autoimmune corneal disorder - - - Preferential parent - - - - - - 519296 - Rare disorder with pigmented sclera - - - Preferential parent - - - - - - 519300 - Isolated chorioretinal dystrophy - - - Preferential parent - - - - - - 519302 - Isolated macular dystrophy - - - Preferential parent - - - - - - 519304 - Isolated vitreoretinopathy - - - Preferential parent - - - - - - 519306 - Isolated progressive inherited retinal disorder - - - Preferential parent - - - - - - 519309 - Rare choroidal disorder - - - Preferential parent - - - - - - 519311 - Rare disorder of the posterior segment of the eye - - - Preferential parent - - - - - - 519313 - Rare macular disorder - - - Preferential parent - - - - - - 519315 - Rare retinal disorder - - - Preferential parent - - - - - - 519317 - Rare retinal vasculopathy - - - Preferential parent - - - - - - 519319 - Isolated stationary inherited retinal disorder - - - Preferential parent - - - - - - 519321 - Syndromic chorioretinal dystrophy - - - Preferential parent - - - - - - 519323 - Syndromic macular dystrophy - - - Preferential parent - - - - - - 519325 - Syndromic inherited retinal disorder - - - Preferential parent - - - - - - 519327 - Syndromic vitreoretinopathy - - - Preferential parent - - - - - - 519329 - Rare disorder involving multiple structures of the eye - - - Preferential parent - - - - - - 519331 - Secondary early-onset glaucoma - - - Preferential parent - - - - - - 519337 - Disorder with optic nerve compression - - - Preferential parent - - - - - - 519339 - Pseudopapilledema - - - Preferential parent - - - - - - 519341 - Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature - - - Preferential parent - - - - - - 519343 - Rare ophthalmic disorder with cortical involvement - - - Preferential parent - - - - - - 519345 - Rare disorder with optic disc malformation - - - Preferential parent - - - - - - 519347 - Rare neuromuscular disorder with ocular motility/alignment anomaly - - - Preferential parent - - - - - - 519349 - Rare ophthalmic disorder with cranial nerve involvement - - - Preferential parent - - - - - - 519351 - Rare optic nerve disorder - - - Preferential parent - - - - - - 519353 - Rare trochlear nerve disorder - - - Preferential parent - - - - - - 519355 - Rare ocular motility/alignment disorder - - - Preferential parent - - - - - - 519384 - Congenital cystic eye - - - Preferential parent - - - - - - 519386 - Isolated congenital entropion - - - Preferential parent - - - - - - 519388 - Autosomal recessive anterior segment dysgenesis - - - Preferential parent - - - - - - 519390 - Isolated blepharochalasis - - - Preferential parent - - - - - - 519392 - Isolated iridoschisis - - - Preferential parent - - - - - - 519396 - Isolated microspherophakia - - - Preferential parent - - - - - - 519398 - Isolated foveal hypoplasia - - - Preferential parent - - - - - - 519400 - Peripapillary staphyloma - - - Preferential parent - - - - - - 519402 - Isolated megalopapilla - - - Preferential parent - - - - - - 519404 - Optic disc pit - - - Preferential parent - - - - - - 519406 - Thygeson superficial punctate keratitis - - - Preferential parent - - - - - - 519408 - Mooren ulcer - - - Preferential parent - - - - - - 519410 - Terrien marginal degeneration - - - Preferential parent - - - - - - 519930 - Fungal keratitis - - - Preferential parent - - - - - - 520814 - Rare disorder of the visual organs - - - Preferential parent - - - - - - 520817 - Isolated inherited retinal disorder - - - Preferential parent - - - - - - 520820 - Progressive external ophthalmoplegia - - - Preferential parent - - - - - - 522504 - Rare genetic disorder of the visual organs - - - Preferential parent - - - - - - 522508 - Rare genetic ophthalmic disorder with cortical involvement - - - Preferential parent - - - - - - 522510 - Rare genetic ophthalmic disorder with cranial nerve involvement - - - Preferential parent - - - - - - 522512 - Rare genetic optic nerve disorder - - - Preferential parent - - - - - - 522514 - Congenital optic disc excavation of genetic origin - - - Preferential parent - - - - - - 522516 - Rare genetic ocular motility/alignment disorder - - - Preferential parent - - - - - - 522518 - Rare genetic disorder with strabismus - - - Preferential parent - - - - - - 522520 - Syndromic genetic disorder with strabismus - - - Preferential parent - - - - - - 522524 - Rare genetic disorder of the ocular adnexa - - - Preferential parent - - - - - - 522528 - Rare genetic eyelid malposition disorder - - - Preferential parent - - - - - - 522530 - Rare genetic disorder with entropion - - - Preferential parent - - - - - - 522532 - Rare genetic disorder of the lacrimal apparatus - - - Preferential parent - - - - - - 522538 - Rare genetic disorder of the anterior segment of the eye - - - Preferential parent - - - - - - 522542 - Rare genetic disorder with conjunctival involvement as a major feature - - - Preferential parent - - - - - - 522546 - Rare genetic disorder with lens opacification - - - Preferential parent - - - - - - 522548 - Syndromic genetic cataract - - - Preferential parent - - - - - - 522552 - Lens position anomaly of genetic origin - - - Preferential parent - - - - - - 522554 - Syndromic genetic ectopia lentis - - - Preferential parent - - - - - - 522556 - Rare genetic corneal disorder - - - Preferential parent - - - - - - 522558 - Rare genetic disorder with corneal involvement as a major feature - - - Preferential parent - - - - - - 522560 - Genetic corneal dystrophy - - - Preferential parent - - - - - - 522562 - Genetic superficial corneal dystrophy - - - Preferential parent - - - - - - 522564 - Syndromic genetic keratoconus - - - Preferential parent - - - - - - 522566 - Rare genetic inflammatory/autoimmune corneal disorder - - - Preferential parent - - - - - - 522568 - Rare genetic disorder of the pupil - - - Preferential parent - - - - - - 522570 - Rare genetic disorder of the posterior segment of the eye - - - Preferential parent - - - - - - 522572 - Rare genetic retinal disorder - - - Preferential parent - - - - - - 522574 - Rare genetic macular disorder - - - Preferential parent - - - - - - 522576 - Rare genetic retinal vasculopathy - - - Preferential parent - - - - - - 522578 - Rare genetic disorder involving multiple structures of the eye - - - Preferential parent - - - - - - 522580 - Secondary early-onset glaucoma of genetic origin - - - Preferential parent - - - - - - 522584 - Rare genetic choroidal disorder - - - Preferential parent - - - - - - 523000 - Pediatric-onset glaucoma - - - Preferential parent - - - - - - 580951 - Punctate inner choroidopathy - - - Preferential parent - - - - - - 617449 - Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome - - - Preferential parent - - - - - - 636950 - Glaucomatocyclitic crisis disease - - - Preferential parent - - - - - - 647815 - Keratitis fugax hereditaria - - - Preferential parent - - - - - - 648559 - Rare scleritis - - - Preferential parent - - - - - - 648665 - Infectious scleritis - - - Preferential parent - - - - - - 648675 - Idiopathic scleritis - - - Preferential parent - - - - - - 648681 - Immune-mediated scleritis - - - Preferential parent - - - - - - 648684 - Central retinal artery occlusion - - - Preferential parent - - - - - - 653709 - Cone rod dystrophy-short stature syndrome - - - Preferential parent - - - - - - 659626 - Single isolated optic neuritis - - - Preferential parent - - - - - - 659634 - Relapsing isolated optic neuritis - - - Preferential parent - - - - - - 674924 - Isolated retinal racemose hemangioma - - - Preferential parent - - - - - - 674930 - Perifoveal exudative vascular anomalous complex - - - Preferential parent - - - - - - 674935 - Torpedo Maculopathy - - - Preferential parent - - - - - - 674943 - Isolated angioid streaks - - - Preferential parent - - - - - - 674947 - Diffuse unilateral subacute neuroretinitis - - - Preferential parent - - - - - - 674953 - Multiple evanescent white dot syndrome - - - Preferential parent - - - - - - 674958 - Stellate multiform amelanotic choroidopathy - - - Preferential parent - - - - - - 674965 - Choroidal osteoma - - - Preferential parent - - - - - - 674968 - Bilateral diffuse uveal melanocytic proliferation disease - - - Preferential parent - - - - - - 97962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97962 - Rare surgical thoracic disease - - - - - 97330 - Thoracic outlet syndrome - - - Preferential parent - - - - - - 100073 - Neurogenic thoracic outlet syndrome - - - Preferential parent - - - - - - 357107 - Arterial thoracic outlet syndrome - - - Preferential parent - - - - - - 357131 - Venous thoracic outlet syndrome - - - Preferential parent - - - - - - 97965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97965 - Rare surgical cardiac disease - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 448270 - Ectopia cordis - - - Preferential parent - - - - - - 97957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97957 - Respiratory or thoracic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707 - Idiopathic isolated micropenis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95708 - Rare precocious puberty - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 - Non-syndromic posterior hypospadias - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 - X-linked adrenal hypoplasia congenita - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715 - Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 - Familial thyroid dyshormonogenesis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713 - Athyreosis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714 - Primary congenital hypothyroidism without thyroid developmental anomaly - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711 - Congenital hypothyroidism due to developmental anomaly - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712 - Thyroid ectopia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95709 - Rare acquired premature ovarian failure - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95710 - Rare non-acquired premature ovarian failure - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95619 - Post-traumatic pituitary deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95618 - Pituitary hormone deficiency secondary to storage disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95617 - Pituitary hormone deficiency secondary to a granulomatous disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95613 - Pituitary apoplexy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626 - Acquired arginine vasopressin deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95505 - Pituitary hormone deficiency of meningeal origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95506 - Primary hypophysitis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 - Congenital anomaly of hepatic vein - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500 - Congenital anomaly of the coronary sinus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95502 - Acquired pituitary hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95503 - Pituitary hormone deficiency of tumoral origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95512 - Adenohypophysitis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95513 - Panhypophysitis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95611 - Pituitary hormone deficiency of vascular origin - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95510 - Atrial appendage anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488 - Non-acquired pituitary hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95491 - Congenital coronary artery aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485 - Arterial duct anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486 - Premature closure of the arterial duct - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 - Pituitary stalk interruption syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499 - Congenital anomaly of the inferior vena cava - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498 - Congenital anomaly of superior vena cava - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495 - Disease associated with non-acquired combined pituitary hormone deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 - Combined pituitary hormone deficiencies, genetic forms - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443 - Mesocardia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 - Congenital aortic valve atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 95434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 - Autosomal recessive cerebellar ataxia-movement disorder syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 95457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457 - Tricuspid valve agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95455 - Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 95462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95462 - Accessory tricuspid valve tissue - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95463 - Anomaly of the tricuspid subvalvular apparatus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459 - Congenital tricuspid stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461 - Straddling or overriding tricuspid valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474 - Double-orifice mitral valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95483 - Univentricular cardiopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95464 - Congenital mitral valve insufficiency and/or stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465 - Cleft mitral valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 - Acute hepatic porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 95232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 - Lissencephaly due to LIS1 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 - Hepatoerythropoietic porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 95428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 - COG8-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 95427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427 - Secondary short bowel syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 95409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95409 - Acute adrenal insufficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95432 - Primary progressive aphasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 95431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95431 - Twin to twin transfusion syndrome - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 95430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 - Congenital tracheomalacia - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 95429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429 - Angioma serpiginosum - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 94091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94091 - Mills syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94093 - Neuroleptic malignant syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 - Cerebellar ataxia, Cayman type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 - Spinocerebellar ataxia with axonal neuropathy type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 - Recessive mitochondrial ataxia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 - Autosomal dominant cerebellar ataxia type I - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 - Spinocerebellar ataxia type 7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 - Autosomal dominant cerebellar ataxia type III - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 - Autosomal dominant cerebellar ataxia type IV - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 94150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150 - Anonychia congenita totalis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 94064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 - Deafness-infertility syndrome - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 94066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066 - Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 94065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 - 15q24 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 94068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 - Spondyloepiphyseal dysplasia congenita - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 94075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94075 - Severe immune-mediated enteropathy - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 94083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 - Partington syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 94080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94080 - Non-functioning paraganglioma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 94086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086 - Blue diaper syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 94088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088 - Hereditary renal hypouricemia - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 94087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94087 - Cytophagic histiocytic panniculitis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 94090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090 - Pseudohypoparathyroidism type 2 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 94089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 - Pseudohypoparathyroidism type 1B - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 96175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175 - Ring chromosome 11 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173 - Ring chromosome 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172 - Ring chromosome 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171 - Ring chromosome 2 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170 - Emanuel syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 - Koolen-De Vries syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168 - Monosomy 13q34 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167 - Recombinant 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96160 - Non-distal deletion 12q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150 - Distal deletion 14q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148 - Distal deletion 10q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96149 - Distal deletion 12q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 - Kleefstra syndrome due to 9q34 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96145 - Distal deletion 4q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96129 - Distal deletion 19p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96126 - Distal deletion 7p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121 - 7q11.23 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123 - Monosomy 22 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112 - Non-distal duplication 9q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107 - Distal duplication 20q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106 - Distal duplication 16q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105 - Distal duplication 13q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109 - Distal duplication 22q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098 - Distal duplication 6q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097 - Distal duplication 5q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096 - Distal duplication 4q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103 - Distal duplication 11q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102 - Distal duplication 10q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101 - Distal duplication 9q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100 - Distal duplication 8q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094 - Distal duplication 2q syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095 - 3q26 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092 - 8p inverted duplication/deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072 - 4p16.3 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074 - Distal duplication 7p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078 - 16p13.3 microduplication syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069 - Distal duplication 1p36 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068 - Mosaic trisomy 22 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071 - Distal duplication 3p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070 - Distal duplication 2p syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059 - Mosaic trisomy 4 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060 - Mosaic trisomy 5 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061 - Mosaic trisomy 8 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063 - Mosaic trisomy 10 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 95717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717 - Idiopathic congenital hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95718 - Congenital thyroid malformation without hypothyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719 - Thyroid hemiagenesis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720 - Thyroid hypoplasia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 95854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95854 - Levocardia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 96055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055 - Tetrasomy 21 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 597623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597623 - IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 - Syndromic renal or urinary tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546 - Non-syndromic renal or urinary tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 597733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 - Oculocutaneous albinism type 8 - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93548 - Glomerular disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93545 - Renal or urinary tract malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 597887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 - ALPI-related inflammatory bowel disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 93555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555 - Mixed cryoglobulinemia type III - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554 - Mixed cryoglobulinemia type II - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557 - Light and heavy chain deposition disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 597939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597939 - Euthyroid dysprealbuminemic hyperthyroxinemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 93556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556 - Heavy chain deposition disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 597746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 597749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 - KAT6B-related multiple congenital anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 - Pediatric systemic lupus erythematosus - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 - AFib amyloidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 598216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598216 - Upper tract urothelial carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 598603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 598363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598363 - Multisystem inflammatory syndrome in children and adults - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558 - Light chain deposition disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 598164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 - FOXG1 syndrome due to intragenic alteration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 - AApoAI amyloidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 - ALys amyloidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571 - Dense deposit disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93573 - Thrombotic microangiopathy - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568 - Juvenile polymyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448 - Lysosomal storage disease with skeletal involvement - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 597201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 - TRIM22-related inflammatory bowel disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 93447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447 - Primary bone dysplasia with defective bone mineralization - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446 - Primary bone dysplasia with decreased bone density - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444 - Primary bone dysplasia with increased bone density - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443 - Neonatal osteosclerotic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442 - Chondrodysplasia punctata - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441 - Primary bone dysplasia with multiple joint dislocations - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455 - Patellar dysostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454 - Dysostosis with predominant vertebral and costal involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453 - Dysostosis with predominant craniofacial involvement - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451 - Cleidocranial dysplasia and isolated cranial ossification defect - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450 - Primary bone dysplasia with disorganized development of skeletal components - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449 - Primary osteolysis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465 - Lethal chondrodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93461 - Chromosomal disease with overgrowth - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459 - Syndrome with synostosis or other joint formation defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460 - Overgrowth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457 - Non-syndromic limb reduction defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458 - Non-syndromic polydactyly, syndactyly and/or hyperphalangy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 93398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398 - Genochondromatosis type 2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 599373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 - STXBP1-related encephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403 - Syndactyly type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 599376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 - Hypomyelination of early myelinating structures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402 - Syndactyly type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 - Syndactyly type 4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 599418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599418 - Hereditary angioedema with normal C1Inh not related to F12 or PLG variant - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 - Syndactyly type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 599480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599480 - Acquired hemophilia A - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 599485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599485 - Acquired hemophilia B - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 - Syndactyly type 5 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 599490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599490 - Acquired factor V deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 - Brachydactyly-syndactyly, Zhao type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 599495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599495 - Acquired factor VII deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 599501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599501 - Acquired factor X deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93419 - Rare bone disease - - - - - 15 - Achondroplasia - - - Preferential parent - - - - - - 437 - Hypophosphatemic rickets - - - Preferential parent - - - - - - 429 - Hypochondroplasia - - - Preferential parent - - - - - - 436 - Hypophosphatasia - - - Preferential parent - - - - - - 337 - Fibrodysplasia ossificans progressiva - - - Preferential parent - - - - - - 628 - Diastrophic dysplasia - - - Preferential parent - - - - - - 800 - Schwartz-Jampel syndrome - - - Preferential parent - - - - - - 53 - Albers-Schönberg osteopetrosis - - - Preferential parent - - - - - - 562 - McCune-Albright syndrome - - - Preferential parent - - - - - - 474 - Jeune syndrome - - - Preferential parent - - - - - - 289 - Ellis Van Creveld syndrome - - - Preferential parent - - - - - - 2771 - Bruck syndrome - - - Preferential parent - - - - - - 2772 - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - - Preferential parent - - - - - - 2773 - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - - Preferential parent - - - - - - 1310 - Caffey disease - - - Preferential parent - - - - - - 1452 - Cleidocranial dysplasia - - - Preferential parent - - - - - - 239 - Dyggve-Melchior-Clausen disease - - - Preferential parent - - - - - - 417 - Neonatal severe primary hyperparathyroidism - - - Preferential parent - - - - - - 2370 - Larsen-like osseous dysplasia-short stature syndrome - - - Preferential parent - - - - - - 1505 - Short rib-polydactyly syndrome - - - Preferential parent - - - - - - 560 - Marshall syndrome - - - Preferential parent - - - - - - 2635 - Metatropic dysplasia - - - Preferential parent - - - - - - 2655 - Thanatophoric dysplasia - - - Preferential parent - - - - - - 2746 - Opsismodysplasia - - - Preferential parent - - - - - - 2785 - Osteopetrosis with renal tubular acidosis - - - Preferential parent - - - - - - 2801 - Juvenile Paget disease - - - Preferential parent - - - - - - 763 - Pycnodysostosis - - - Preferential parent - - - - - - 1422 - Chondrodysplasia-difference of sex development syndrome - - - Preferential parent - - - - - - 666 - Osteogenesis imperfecta - - - Preferential parent - - - - - - 249 - Fibrous dysplasia of bone - - - Preferential parent - - - - - - 828 - Stickler syndrome - - - Preferential parent - - - - - - 2380 - Legg-Calvé-Perthes disease - - - Preferential parent - - - - - - 2764 - Osteochondritis dissecans - - - Preferential parent - - - - - - 253 - Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - - - Preferential parent - - - - - - 140 - Campomelic dysplasia - - - Preferential parent - - - - - - 808 - Seckel syndrome - - - Preferential parent - - - - - - 184 - Cherubism - - - Preferential parent - - - - - - 240 - Léri-Weill dyschondrosteosis - - - Preferential parent - - - - - - 932 - Achondrogenesis - - - Preferential parent - - - - - - 950 - Acrodysostosis - - - Preferential parent - - - - - - 955 - Hajdu-Cheney syndrome - - - Preferential parent - - - - - - 968 - Acromesomelic dysplasia, Hunter-Thompson type - - - Preferential parent - - - - - - 40 - Acromesomelic dysplasia, Maroteaux type - - - Preferential parent - - - - - - 969 - Acromicric dysplasia - - - Preferential parent - - - - - - 1040 - Metaphyseal anadysplasia - - - Preferential parent - - - - - - 1159 - Progressive pseudorheumatoid dysplasia - - - Preferential parent - - - - - - 1190 - Atelosteogenesis type I - - - Preferential parent - - - - - - 114 - Auriculoosteodysplasia - - - Preferential parent - - - - - - 1263 - Boomerang dysplasia - - - Preferential parent - - - - - - 1293 - Brachyolmia - - - Preferential parent - - - - - - 1318 - Campomelia, Cumming type - - - Preferential parent - - - - - - 1328 - Camurati-Engelmann disease - - - Preferential parent - - - - - - 174 - Metaphyseal chondrodysplasia, Schmid type - - - Preferential parent - - - - - - 1425 - Desbuquois syndrome - - - Preferential parent - - - - - - 1426 - Greenberg dysplasia - - - Preferential parent - - - - - - 1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - - Preferential parent - - - - - - 1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - - Preferential parent - - - - - - 1453 - Cleidorhizomelic syndrome - - - Preferential parent - - - - - - 1506 - Thin ribs-tubular bones-dysmorphism syndrome - - - Preferential parent - - - - - - 1508 - Coxoauricular syndrome - - - Preferential parent - - - - - - 1513 - Craniodiaphyseal dysplasia - - - Preferential parent - - - - - - 1522 - Craniometaphyseal dysplasia - - - Preferential parent - - - - - - 1525 - Cranio-osteoarthropathy - - - Preferential parent - - - - - - 1667 - Wolcott-Rallison syndrome - - - Preferential parent - - - - - - 1782 - Dysosteosclerosis - - - Preferential parent - - - - - - 1798 - Craniofacial dysostosis-diaphyseal hyperplasia syndrome - - - Preferential parent - - - - - - 1801 - Kyphomelic dysplasia - - - Preferential parent - - - - - - 1802 - Ghosal hematodiaphyseal dysplasia - - - Preferential parent - - - - - - 1803 - Thoracomelic dysplasia - - - Preferential parent - - - - - - 251 - Multiple epiphyseal dysplasia - - - Preferential parent - - - - - - 1830 - Schimke immuno-osseous dysplasia - - - Preferential parent - - - - - - 1836 - Mesomelic dysplasia, Kantaputra type - - - Preferential parent - - - - - - 1837 - Metaphyseal chondrodysplasia, Rosenberg type - - - Preferential parent - - - - - - 1842 - Bone dysplasia, lethal Holmgren type - - - Preferential parent - - - - - - 254 - Spondylometaphyseal dysplasia - - - Preferential parent - - - - - - 1860 - Thanatophoric dysplasia type 1 - - - Preferential parent - - - - - - 1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - - Preferential parent - - - - - - 1879 - Melorheostosis with osteopoikilosis - - - Preferential parent - - - - - - 1822 - Dysplasia epiphysealis hemimelica - - - Preferential parent - - - - - - 1824 - Lowry-Wood syndrome - - - Preferential parent - - - - - - 1952 - Epiphyseal stippling-osteoclastic hyperplasia syndrome - - - Preferential parent - - - - - - 1962 - Exostoses-anetodermia-brachydactyly type E syndrome - - - Preferential parent - - - - - - 2021 - Fibrochondrogenesis - - - Preferential parent - - - - - - 2028 - Juvenile hyaline fibromatosis - - - Preferential parent - - - - - - 2050 - Cole-Carpenter syndrome - - - Preferential parent - - - - - - 1826 - Frontometaphyseal dysplasia - - - Preferential parent - - - - - - 2078 - Geroderma osteodysplastica - - - Preferential parent - - - - - - 2097 - Grant syndrome - - - Preferential parent - - - - - - 2098 - Acromesomelic dysplasia, Grebe type - - - Preferential parent - - - - - - 2114 - Hip dysplasia, Beukes type - - - Preferential parent - - - - - - 2176 - Infantile systemic hyalinosis - - - Preferential parent - - - - - - 2324 - Osteopenia-intellectual disability-sparse hair syndrome - - - Preferential parent - - - - - - 2333 - Kenny-Caffey syndrome - - - Preferential parent - - - - - - 485 - Kniest dysplasia - - - Preferential parent - - - - - - 2347 - Lethal Kniest-like dysplasia - - - Preferential parent - - - - - - 2371 - Lethal Larsen-like syndrome - - - Preferential parent - - - - - - 296 - Ollier disease - - - Preferential parent - - - - - - 2457 - Mandibuloacral dysplasia - - - Preferential parent - - - - - - 2484 - Melnick-Needles syndrome - - - Preferential parent - - - - - - 2485 - Melorheostosis - - - Preferential parent - - - - - - 2496 - Mesomelia-synostoses syndrome - - - Preferential parent - - - - - - 2497 - Upper limb mesomelic dysplasia, type Fryns - - - Preferential parent - - - - - - 2499 - Metachondromatosis - - - Preferential parent - - - - - - 2501 - Metaphyseal chondrodysplasia, Spahr type - - - Preferential parent - - - - - - 2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - - Preferential parent - - - - - - 2504 - Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome - - - Preferential parent - - - - - - 2616 - 3M syndrome - - - Preferential parent - - - - - - 2623 - Geleophysic dysplasia - - - Preferential parent - - - - - - 2632 - Langer mesomelic dysplasia - - - Preferential parent - - - - - - 2633 - Mesomelic dysplasia, Nievergelt type - - - Preferential parent - - - - - - 2634 - Mesomelic dwarfism, Reinhardt-Pfeiffer type - - - Preferential parent - - - - - - 2643 - Microcephalic primordial dwarfism, Toriello type - - - Preferential parent - - - - - - 2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - - Preferential parent - - - - - - 2645 - Osteoglosphonic dysplasia - - - Preferential parent - - - - - - 2658 - Lenz-Majewski hyperostotic dwarfism - - - Preferential parent - - - - - - 2733 - Omodysplasia - - - Preferential parent - - - - - - 2762 - Progressive osseous heteroplasia - - - Preferential parent - - - - - - 2763 - Osteocraniostenosis - - - Preferential parent - - - - - - 2767 - Carpotarsal osteochondromatosis - - - Preferential parent - - - - - - 2768 - Blount disease - - - Preferential parent - - - - - - 2770 - Nasu-Hakola disease - - - Preferential parent - - - - - - 2774 - Multicentric carpo-tarsal osteolysis with or without nephropathy - - - Preferential parent - - - - - - 2776 - Autosomal recessive distal osteolysis syndrome - - - Preferential parent - - - - - - 2777 - Osteomesopyknosis - - - Preferential parent - - - - - - 2779 - Osteopathia striata-pigmentary dermopathy-white forelock syndrome - - - Preferential parent - - - - - - 2780 - Osteopathia striata-cranial sclerosis syndrome - - - Preferential parent - - - - - - 667 - Autosomal recessive malignant osteopetrosis - - - Preferential parent - - - - - - 2783 - Autosomal dominant osteopetrosis type 1 - - - Preferential parent - - - - - - 2786 - Osteoporosis-oculocutaneous hypopigmentation syndrome - - - Preferential parent - - - - - - 2788 - Osteoporosis-pseudoglioma syndrome - - - Preferential parent - - - - - - 2789 - Lateral meningocele syndrome - - - Preferential parent - - - - - - 2790 - Endosteal hyperostosis, Worth type - - - Preferential parent - - - - - - 2796 - Pachydermoperiostosis - - - Preferential parent - - - - - - 2867 - Short stature, Brussels type - - - Preferential parent - - - - - - 2899 - Brachyolmia-amelogenesis imperfecta syndrome - - - Preferential parent - - - - - - 750 - Pseudoachondroplasia - - - Preferential parent - - - - - - 3003 - Pyknoachondrogenesis - - - Preferential parent - - - - - - 3005 - Pyle disease - - - Preferential parent - - - - - - 1832 - Osteosclerotic bone dysplasia - - - Preferential parent - - - - - - 3019 - Ramon syndrome - - - Preferential parent - - - - - - 3034 - Delayed membranous cranial ossification - - - Preferential parent - - - - - - 3098 - Rhizomelic syndrome, Urbach type - - - Preferential parent - - - - - - 3144 - Schneckenbecken dysplasia - - - Preferential parent - - - - - - 3152 - Sclerosteosis - - - Preferential parent - - - - - - 3180 - Spondylocamptodactyly syndrome - - - Preferential parent - - - - - - 1855 - Spondyloenchondrodysplasia - - - Preferential parent - - - - - - 1856 - Spondyloperipheral dysplasia-short ulna syndrome - - - Preferential parent - - - - - - 3275 - Spondylocarpotarsal synostosis - - - Preferential parent - - - - - - 3314 - Thiemann disease, familial form - - - Preferential parent - - - - - - 3317 - Thoracolaryngopelvic dysplasia - - - Preferential parent - - - - - - 3344 - Weismann-Netter syndrome - - - Preferential parent - - - - - - 3408 - Upington disease - - - Preferential parent - - - - - - 3416 - Hyperostosis corticalis generalisata - - - Preferential parent - - - - - - 3472 - Yunis-Varon syndrome - - - Preferential parent - - - - - - 1423 - Lethal recessive chondrodysplasia - - - Preferential parent - - - - - - 2619 - Brachydactylous dwarfism, Mseleni type - - - Preferential parent - - - - - - 2204 - Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type - - - Preferential parent - - - - - - 2831 - Rhizomelic dysplasia, Patterson-Lowry type - - - Preferential parent - - - - - - 3206 - Stüve-Wiedemann syndrome - - - Preferential parent - - - - - - 321 - Multiple osteochondromas - - - Preferential parent - - - - - - 177 - Rhizomelic chondrodysplasia punctata - - - Preferential parent - - - - - - 175 - Cartilage-hair hypoplasia - - - Preferential parent - - - - - - 2781 - Osteopetrosis and related disorders - - - Preferential parent - - - - - - 503 - Larsen syndrome - - - Preferential parent - - - - - - 176 - Non-rhizomelic chondrodysplasia punctata - - - Preferential parent - - - - - - 2637 - Microcephalic osteodysplastic primordial dwarfism type II - - - Preferential parent - - - - - - 33067 - Metaphyseal chondrodysplasia, Jansen type - - - Preferential parent - - - - - - 35107 - Desmosterolosis - - - Preferential parent - - - - - - 35173 - X-linked dominant chondrodysplasia punctata - - - Preferential parent - - - - - - 50809 - Talo-patello-scaphoid osteolysis - - - Preferential parent - - - - - - 50811 - Lipodystrophy-intellectual disability-deafness syndrome - - - Preferential parent - - - - - - 50945 - Blomstrand lethal chondrodysplasia - - - Preferential parent - - - - - - 53697 - Gnathodiaphyseal dysplasia - - - Preferential parent - - - - - - 56304 - Atelosteogenesis type II - - - Preferential parent - - - - - - 56305 - Atelosteogenesis type III - - - Preferential parent - - - - - - 57196 - Medial condensing osteitis of the clavicle - - - Preferential parent - - - - - - 57782 - Mazabraud syndrome - - - Preferential parent - - - - - - 60015 - Enlarged parietal foramina - - - Preferential parent - - - - - - 63442 - Angel-shaped phalango-epiphyseal dysplasia - - - Preferential parent - - - - - - 63446 - Acrocapitofemoral dysplasia - - - Preferential parent - - - - - - 73230 - Ossification anomalies-psychomotor developmental delay syndrome - - - Preferential parent - - - - - - 75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - - Preferential parent - - - - - - 79106 - Eiken syndrome - - - Preferential parent - - - - - - 79345 - Brachytelephalangic chondrodysplasia punctata - - - Preferential parent - - - - - - 79346 - Chondrodysplasia punctata, tibial-metacarpal type - - - Preferential parent - - - - - - 79347 - Chondrodysplasia punctata, Toriello type - - - Preferential parent - - - - - - 83468 - Solitary bone cyst - - - Preferential parent - - - - - - 85165 - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - - Preferential parent - - - - - - 85166 - Platyspondylic dysplasia, Torrance type - - - Preferential parent - - - - - - 85167 - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - - Preferential parent - - - - - - 85168 - Craniofacial conodysplasia - - - Preferential parent - - - - - - 85170 - Mesomelic dysplasia, Savarirayan type - - - Preferential parent - - - - - - 85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - - Preferential parent - - - - - - 85174 - Pseudodiastrophic dysplasia - - - Preferential parent - - - - - - 85175 - Astley-Kendall dysplasia - - - Preferential parent - - - - - - 85179 - Infantile osteopetrosis with neuroaxonal dysplasia - - - Preferential parent - - - - - - 85182 - Diaphyseal medullary stenosis-bone malignancy syndrome - - - Preferential parent - - - - - - 85184 - Craniometadiaphyseal dysplasia, wormian bone type - - - Preferential parent - - - - - - 85186 - Endosteal sclerosis-cerebellar hypoplasia syndrome - - - Preferential parent - - - - - - 85188 - Metaphyseal dysplasia, Braun-Tinschert type - - - Preferential parent - - - - - - 85191 - Singleton-Merten dysplasia - - - Preferential parent - - - - - - 85192 - Calvarial doughnut lesions-bone fragility syndrome - - - Preferential parent - - - - - - 85193 - Idiopathic juvenile osteoporosis - - - Preferential parent - - - - - - 85194 - Spondylo-ocular syndrome - - - Preferential parent - - - - - - 85195 - Familial expansile osteolysis - - - Preferential parent - - - - - - 85197 - Genochondromatosis type 1 - - - Preferential parent - - - - - - 85198 - Dysspondyloenchondromatosis - - - Preferential parent - - - - - - 86820 - Familial avascular necrosis of femoral head - - - Preferential parent - - - - - - 88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - - Preferential parent - - - - - - 89936 - X-linked hypophosphatemia - - - Preferential parent - - - - - - 89937 - Autosomal dominant hypophosphatemic rickets - - - Preferential parent - - - - - - 90153 - Mandibuloacral dysplasia with type A lipodystrophy - - - Preferential parent - - - - - - 90154 - Mandibuloacral dysplasia with type B lipodystrophy - - - Preferential parent - - - - - - 90650 - Otopalatodigital syndrome type 1 - - - Preferential parent - - - - - - 90652 - Otopalatodigital syndrome type 2 - - - Preferential parent - - - - - - 90653 - Stickler syndrome type 1 - - - Preferential parent - - - - - - 90654 - Stickler syndrome type 2 - - - Preferential parent - - - - - - 93160 - Hypocalcemic vitamin D-resistant rickets - - - Preferential parent - - - - - - 93268 - Short rib-polydactyly syndrome, Beemer-Langer type - - - Preferential parent - - - - - - 93269 - Short rib-polydactyly syndrome, Majewski type - - - Preferential parent - - - - - - 93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - - Preferential parent - - - - - - 93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - - Preferential parent - - - - - - 93274 - Thanatophoric dysplasia type 2 - - - Preferential parent - - - - - - 93276 - Polyostotic fibrous dysplasia - - - Preferential parent - - - - - - 93277 - Monostotic fibrous dysplasia - - - Preferential parent - - - - - - 93279 - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - - Preferential parent - - - - - - 93282 - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - - Preferential parent - - - - - - 93283 - Spondyloepiphyseal dysplasia, Kimberley type - - - Preferential parent - - - - - - 93284 - Spondyloepiphyseal dysplasia tarda - - - Preferential parent - - - - - - 93296 - Achondrogenesis type 2 - - - Preferential parent - - - - - - 93297 - Hypochondrogenesis - - - Preferential parent - - - - - - 93298 - Achondrogenesis type 1B - - - Preferential parent - - - - - - 93299 - Achondrogenesis type 1A - - - Preferential parent - - - - - - 93302 - Brachyolmia, Maroteaux type - - - Preferential parent - - - - - - 93304 - Autosomal dominant brachyolmia - - - Preferential parent - - - - - - 93307 - Multiple epiphyseal dysplasia type 4 - - - Preferential parent - - - - - - 93308 - Multiple epiphyseal dysplasia type 1 - - - Preferential parent - - - - - - 93311 - Multiple epiphyseal dysplasia type 5 - - - Preferential parent - - - - - - 93314 - Spondylometaphyseal dysplasia, Kozlowski type - - - Preferential parent - - - - - - 93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - - Preferential parent - - - - - - 93316 - Spondylometaphyseal dysplasia, Schmidt type - - - Preferential parent - - - - - - 93317 - Spondylometaphyseal dysplasia, Sedaghatian type - - - Preferential parent - - - - - - 93324 - Autosomal recessive Kenny-Caffey syndrome - - - Preferential parent - - - - - - 93325 - Autosomal dominant Kenny-Caffey syndrome - - - Preferential parent - - - - - - 93328 - Autosomal dominant omodysplasia - - - Preferential parent - - - - - - 93329 - Autosomal recessive omodysplasia - - - Preferential parent - - - - - - 93346 - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - - Preferential parent - - - - - - 93347 - Anauxetic dysplasia - - - Preferential parent - - - - - - 93349 - X-linked spondyloepimetaphyseal dysplasia - - - Preferential parent - - - - - - 93351 - Spondyloepimetaphyseal dysplasia, Irapa type - - - Preferential parent - - - - - - 93352 - Spondyloepimetaphyseal dysplasia, Shohat type - - - Preferential parent - - - - - - 93356 - Spondyloepimetaphyseal dysplasia, Missouri type - - - Preferential parent - - - - - - 93357 - SPONASTRIME dysplasia - - - Preferential parent - - - - - - 93358 - Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - - - Preferential parent - - - - - - 93360 - Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - - - Preferential parent - - - - - - 93398 - Genochondromatosis type 2 - - - Preferential parent - - - - - - 93420 - FGFR3-related chondrodysplasia - - - Preferential parent - - - - - - 93421 - Type 2 collagen-related bone disorder - - - Preferential parent - - - - - - 93422 - Type 11 collagen-related bone disorder - - - Preferential parent - - - - - - 93423 - Sulfation-related bone disorder - - - Preferential parent - - - - - - 93425 - Filamin-related bone disorder - - - Preferential parent - - - - - - 93426 - Ciliopathies with major skeletal involvement - - - Preferential parent - - - - - - 93429 - Multiple epiphyseal dysplasia and pseudoachondroplasia - - - Preferential parent - - - - - - 93430 - Multiple metaphyseal dysplasia - - - Preferential parent - - - - - - 93434 - Spondylodysplastic dysplasia - - - Preferential parent - - - - - - 93436 - Acromelic dysplasia - - - Preferential parent - - - - - - 93437 - Acromesomelic dysplasia - - - Preferential parent - - - - - - 93438 - Mesomelic and rhizo-mesomelic dysplasia - - - Preferential parent - - - - - - 93439 - Campomelic dysplasia and related disorders - - - Preferential parent - - - - - - 93440 - Slender bone dysplasia - - - Preferential parent - - - - - - 93441 - Primary bone dysplasia with multiple joint dislocations - - - Preferential parent - - - - - - 93442 - Chondrodysplasia punctata - - - Preferential parent - - - - - - 93443 - Neonatal osteosclerotic dysplasia - - - Preferential parent - - - - - - 93444 - Primary bone dysplasia with increased bone density - - - Preferential parent - - - - - - 93446 - Primary bone dysplasia with decreased bone density - - - Preferential parent - - - - - - 93447 - Primary bone dysplasia with defective bone mineralization - - - Preferential parent - - - - - - 93448 - Lysosomal storage disease with skeletal involvement - - - Preferential parent - - - - - - 93449 - Primary osteolysis - - - Preferential parent - - - - - - 93450 - Primary bone dysplasia with disorganized development of skeletal components - - - Preferential parent - - - - - - 93451 - Cleidocranial dysplasia and isolated cranial ossification defect - - - Preferential parent - - - - - - 93465 - Lethal chondrodysplasia - - - Preferential parent - - - - - - 94063 - 12q14 microdeletion syndrome - - - Preferential parent - - - - - - 94068 - Spondyloepiphyseal dysplasia congenita - - - Preferential parent - - - - - - 97332 - Kienbock disease - - - Preferential parent - - - - - - 97335 - Osgood-Schlatter disease - - - Preferential parent - - - - - - 97336 - Panner disease - - - Preferential parent - - - - - - 97337 - Sinding-Larsen-Johansson disease - - - Preferential parent - - - - - - 99642 - Spondyloepimetaphyseal dysplasia, Handigodu type - - - Preferential parent - - - - - - 99646 - Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria - - - Preferential parent - - - - - - 137678 - Spondyloepiphyseal dysplasia with metatarsal shortening - - - Preferential parent - - - - - - 137834 - Frank-Ter Haar syndrome - - - Preferential parent - - - - - - 140969 - Saldino-Mainzer syndrome - - - Preferential parent - - - - - - 156728 - Spondyloepimetaphyseal dysplasia, matrilin-3 type - - - Preferential parent - - - - - - 156731 - Dyssegmental dysplasia, Rolland-Desbuquois type - - - Preferential parent - - - - - - 157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - - Preferential parent - - - - - - 163634 - Maffucci syndrome - - - Preferential parent - - - - - - 163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - - Preferential parent - - - - - - 163654 - Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome - - - Preferential parent - - - - - - 163662 - Spondyloepiphyseal dysplasia, Reardon type - - - Preferential parent - - - - - - 163665 - Spondyloepiphyseal dysplasia tarda, Kohn type - - - Preferential parent - - - - - - 163668 - Spondyloepiphyseal dysplasia, MacDermot type - - - Preferential parent - - - - - - 163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - - Preferential parent - - - - - - 166002 - Multiple epiphyseal dysplasia due to collagen 9 anomaly - - - Preferential parent - - - - - - 166016 - Multiple epiphyseal dysplasia, Lowry type - - - Preferential parent - - - - - - 166024 - Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome - - - Preferential parent - - - - - - 166029 - Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome - - - Preferential parent - - - - - - 166032 - Multiple epiphyseal dysplasia-miniepiphyses syndrome - - - Preferential parent - - - - - - 166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - - Preferential parent - - - - - - 166038 - Metaphyseal chondrodysplasia, Kaitila type - - - Preferential parent - - - - - - 166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - - Preferential parent - - - - - - 166119 - Isolated osteopoikilosis - - - Preferential parent - - - - - - 166272 - Odontochondrodysplasia - - - Preferential parent - - - - - - 166277 - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - - Preferential parent - - - - - - 168443 - Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome - - - Preferential parent - - - - - - 168451 - Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome - - - Preferential parent - - - - - - 168454 - Spondyloepimetaphyseal dysplasia, Geneviève type - - - Preferential parent - - - - - - 168544 - Spondylometaphyseal dysplasia, Golden type - - - Preferential parent - - - - - - 168549 - Axial spondylometaphyseal dysplasia - - - Preferential parent - - - - - - 168552 - Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome - - - Preferential parent - - - - - - 168555 - Spondylometaphyseal dysplasia, A4 type - - - Preferential parent - - - - - - 168621 - Dysplasia of head of femur, Meyer type - - - Preferential parent - - - - - - 169349 - Immuno-osseous dysplasia - - - Preferential parent - - - - - - 171866 - Spondyloepimetaphyseal dysplasia, aggrecan type - - - Preferential parent - - - - - - 178355 - Smith-McCort dysplasia - - - Preferential parent - - - - - - 178389 - Osteopetrosis-hypogammaglobulinemia syndrome - - - Preferential parent - - - - - - 183524 - Rare genetic bone disease - - - Preferential parent - - - - - - 183527 - Genetic bone tumor - - - Preferential parent - - - - - - 210110 - Intermediate osteopetrosis - - - Preferential parent - - - - - - 216796 - Osteogenesis imperfecta type 1 - - - Preferential parent - - - - - - 216804 - Osteogenesis imperfecta type 2 - - - Preferential parent - - - - - - 216812 - Osteogenesis imperfecta type 3 - - - Preferential parent - - - - - - 216820 - Osteogenesis imperfecta type 4 - - - Preferential parent - - - - - - 216828 - Osteogenesis imperfecta type 5 - - - Preferential parent - - - - - - 228387 - Spondylo-megaepiphyseal-metaphyseal dysplasia - - - Preferential parent - - - - - - 235832 - Congenital vascular bone syndrome - - - Preferential parent - - - - - - 247623 - Perinatal lethal hypophosphatasia - - - Preferential parent - - - - - - 247638 - Prenatal benign hypophosphatasia - - - Preferential parent - - - - - - 247651 - Infantile hypophosphatasia - - - Preferential parent - - - - - - 247667 - Childhood-onset hypophosphatasia - - - Preferential parent - - - - - - 247676 - Adult hypophosphatasia - - - Preferential parent - - - - - - 247685 - Odontohypophosphatasia - - - Preferential parent - - - - - - 248095 - Primary hypertrophic osteoarthropathy - - - Preferential parent - - - - - - 250984 - Autosomal recessive Stickler syndrome - - - Preferential parent - - - - - - 251262 - Familial osteochondritis dissecans - - - Preferential parent - - - - - - 251290 - Parietal foramina with clavicular hypoplasia - - - Preferential parent - - - - - - 263463 - CHST3-related skeletal dysplasia - - - Preferential parent - - - - - - 263482 - Spondyloepimetaphyseal dysplasia, Maroteaux type - - - Preferential parent - - - - - - 280576 - Nestor-Guillermo progeria syndrome - - - Preferential parent - - - - - - 280586 - Chondrodysplasia with joint dislocations, gPAPP type - - - Preferential parent - - - - - - 284139 - Larsen-like syndrome, B3GAT3 type - - - Preferential parent - - - - - - 289098 - Disorders of vitamin D metabolism - - - Preferential parent - - - - - - 289103 - Hypocalcemic rickets - - - Preferential parent - - - - - - 289157 - Hypocalcemic vitamin D-dependent rickets - - - Preferential parent - - - - - - 289176 - Autosomal recessive hypophosphatemic rickets - - - Preferential parent - - - - - - 300493 - Sagliker syndrome - - - Preferential parent - - - - - - 309789 - Rhizomelic chondrodysplasia punctata type 1 - - - Preferential parent - - - - - - 309796 - Rhizomelic chondrodysplasia punctata type 2 - - - Preferential parent - - - - - - 309803 - Rhizomelic chondrodysplasia punctata type 3 - - - Preferential parent - - - - - - 313855 - FGFR2-related bent bone dysplasia - - - Preferential parent - - - - - - 314029 - High bone mass osteogenesis imperfecta - - - Preferential parent - - - - - - 314394 - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - - - Preferential parent - - - - - - 314795 - SHOX-related short stature - - - Preferential parent - - - - - - 319671 - Alazami syndrome - - - Preferential parent - - - - - - 319675 - Microcephalic primordial dwarfism, Dauber type - - - Preferential parent - - - - - - 324307 - Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome - - - Preferential parent - - - - - - 324364 - Mixed sclerosing bone dystrophy with extra-skeletal manifestations - - - Preferential parent - - - - - - 329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - - Preferential parent - - - - - - 352540 - Oncogenic osteomalacia - - - Preferential parent - - - - - - 352636 - Phalangeal microgeodic syndrome - - - Preferential parent - - - - - - 353298 - Roifman syndrome - - - Preferential parent - - - - - - 364526 - Primary bone dysplasia - - - Preferential parent - - - - - - 364531 - Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments - - - Preferential parent - - - - - - 364536 - Primary bone dysplasia with micromelia - - - Preferential parent - - - - - - 364541 - Otopalatodigital syndrome spectrum disorder - - - Preferential parent - - - - - - 364803 - Rare bone disease related to a common gene or pathway defect - - - Preferential parent - - - - - - 364820 - TRPV4-related bone disorder - - - Preferential parent - - - - - - 370015 - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type - - - Preferential parent - - - - - - 391327 - X-linked calvarial hyperostosis - - - Preferential parent - - - - - - 391330 - X-linked osteoporosis with fractures - - - Preferential parent - - - - - - 391474 - Frontorhiny - - - Preferential parent - - - - - - 397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - - Preferential parent - - - - - - 399158 - Osteonecrosis - - - Preferential parent - - - - - - 399164 - Avascular necrosis - - - Preferential parent - - - - - - 399169 - Secondary avascular necrosis - - - Preferential parent - - - - - - 399175 - Traumatic avascular necrosis - - - Preferential parent - - - - - - 399180 - Secondary non-traumatic avascular necrosis - - - Preferential parent - - - - - - 399185 - Rare hereditary disease with avascular necrosis - - - Preferential parent - - - - - - 399293 - Osteonecrosis of the jaw - - - Preferential parent - - - - - - 399302 - Primary avascular necrosis - - - Preferential parent - - - - - - 399307 - Idiopathic avascular necrosis - - - Preferential parent - - - - - - 399319 - Osteochondrosis - - - Preferential parent - - - - - - 399329 - Epiphysiolysis of the hip - - - Preferential parent - - - - - - 399380 - Osteonecrosis of genetic origin - - - Preferential parent - - - - - - 399388 - Avascular necrosis of genetic origin - - - Preferential parent - - - - - - 399391 - Osteochondrosis of genetic origin - - - Preferential parent - - - - - - 401979 - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type - - - Preferential parent - - - - - - 404507 - Chondromyxoid fibroma - - - Preferential parent - - - - - - 420794 - Cono-spondylar dysplasia - - - Preferential parent - - - - - - 424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - - Preferential parent - - - - - - 435329 - Familial ossifying fibroma - - - Preferential parent - - - - - - 435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - - Preferential parent - - - - - - 438117 - Steel syndrome - - - Preferential parent - - - - - - 440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - - Preferential parent - - - - - - 443098 - Hyperostosis cranialis interna - - - Preferential parent - - - - - - 444316 - Idiopathic phalangeal acro-osteolysis - - - Preferential parent - - - - - - 448242 - Autosomal recessive brachyolmia - - - Preferential parent - - - - - - 448267 - Regressive spondylometaphyseal dysplasia - - - Preferential parent - - - - - - 457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - - Preferential parent - - - - - - 457378 - Complex lethal osteochondrodysplasia - - - Preferential parent - - - - - - 457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - - Preferential parent - - - - - - 459051 - Spondyloepiphyseal dysplasia, Stanescu type - - - Preferential parent - - - - - - 459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - - Preferential parent - - - - - - 464366 - NEK9-related lethal skeletal dysplasia - - - Preferential parent - - - - - - 468717 - Rhizomelic chondrodysplasia punctata type 5 - - - Preferential parent - - - - - - 477831 - Kosaki overgrowth syndrome - - - Preferential parent - - - - - - 480553 - Aneurysmal bone cyst - - - Preferential parent - - - - - - 488265 - Osteofibrous dysplasia - - - Preferential parent - - - - - - 498445 - Genetic inflammatory or rheumatoid-like osteoarthropathy - - - Preferential parent - - - - - - 498474 - Hyaline fibromatosis syndrome - - - Preferential parent - - - - - - 498481 - LRP5-related primary osteoporosis - - - Preferential parent - - - - - - 498485 - Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome - - - Preferential parent - - - - - - 498488 - Overgrowth syndrome with 2q37 translocation - - - Preferential parent - - - - - - 498497 - Short rib-polydactyly syndrome type 5 - - - Preferential parent - - - - - - 500548 - Osteosclerotic metaphyseal dysplasia - - - Preferential parent - - - - - - 508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - - Preferential parent - - - - - - 521127 - Osteoradionecrosis of the mandible - - - Preferential parent - - - - - - 527450 - Severe myopia-generalized joint laxity-short stature syndrome - - - Preferential parent - - - - - - 557003 - Oculoskeletodental syndrome - - - Preferential parent - - - - - - 563991 - Osteochondrosis of the tarsal bone - - - Preferential parent - - - - - - 564003 - Osteochondrosis of the metatarsal bone - - - Preferential parent - - - - - - 566943 - Mueller-Weiss syndrome - - - Preferential parent - - - - - - 589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - - Preferential parent - - - - - - 589905 - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - - Preferential parent - - - - - - 595216 - Fibrous dysplasia/McCune-Albright syndrome - - - Preferential parent - - - - - - 611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - - Preferential parent - - - - - - 611223 - EN1-related dorsoventral syndrome - - - Preferential parent - - - - - - 622934 - SBDS-related severe neonatal spondylometaphyseal dysplasia - - - Preferential parent - - - - - - 623695 - MIR140-related spondyloepiphyseal dysplasia - - - Preferential parent - - - - - - 642085 - EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity - - - Preferential parent - - - - - - 642099 - Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type - - - Preferential parent - - - - - - 646136 - Dysplastic cortical hyperostosis, Al-Gazali type - - - Preferential parent - - - - - - 646139 - Dysplastic cortical hyperostosis - - - Preferential parent - - - - - - 647667 - Mandibuloacral dysplasia associated to MTX2 - - - Preferential parent - - - - - - 647676 - Multiple epiphyseal dysplasia type 7 - - - Preferential parent - - - - - - 656283 - Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency - - - Preferential parent - - - - - - 664377 - MGP-related spondyloepiphyseal dysplasia - - - Preferential parent - - - - - - 674499 - Proteoglycan-related bone disorder - - - Preferential parent - - - - - - 599507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599507 - Acquired factor XI deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 599513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599513 - Acquired factor XIII deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93421 - Type 2 collagen-related bone disorder - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 599519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599519 - Factor V short isoforms-related bleeding disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93420 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93420 - FGFR3-related chondrodysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 599579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579 - Factor V Amsterdam bleeding disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93422 - Type 11 collagen-related bone disorder - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93423 - Sulfation-related bone disorder - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93425 - Filamin-related bone disorder - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426 - Ciliopathies with major skeletal involvement - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429 - Multiple epiphyseal dysplasia and pseudoachondroplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430 - Multiple metaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434 - Spondylodysplastic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 - Acromelic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437 - Acromesomelic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438 - Mesomelic and rhizo-mesomelic dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439 - Campomelic dysplasia and related disorders - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440 - Slender bone dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 - Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 - Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 93357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 - SPONASTRIME dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 599082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082 - CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 - Familial hypocalciuric hypercalcemia type 1 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 93382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 - Brachydactyly type A6 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383 - Brachydactyly type B - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 - Brachydactyly type E - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 - Brachydactyly type A1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384 - Brachydactyly type C - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396 - Brachydactyly type A2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397 - Brachydactyly type A7 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394 - Brachydactyly type A4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 595356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595356 - Localized dystrophic epidermolysis bullosa - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 93969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 - Open spinal dysraphism with a myelomeningocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 595337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595337 - Adrenal hypoplasia congenita - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 595351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595351 - Epidermolysis bullosa simplex with extracutaneous involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 93964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93964 - Blepharospasm-oromandibular dystonia syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 595346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595346 - Epidermolysis bullosa simplex without extracutaneous involvement - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 93958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93958 - Oromandibular dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 595216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595216 - Fibrous dysplasia/McCune-Albright syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 94059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94059 - Uremic pruritus - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 94058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058 - Neovascular glaucoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 94056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056 - Isolated humero-ulnar synostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976 - Anotia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 - FG syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 - Classic bladder exstrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 - Isolated epispadias - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 - Cloacal exstrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 - Full schwannomatosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 93953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953 - Familial thyroglossal duct cyst - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 93952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 - X-linked intellectual disability, Hedera type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 595109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 - Atypical Timothy syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 595133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595133 - Perivascular epithelioid cell neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 93950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 - X-linked intellectual disability, Sutherland-Haan type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 595098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 - Timothy syndrome type 1 - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 93947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947 - X-linked intellectual disability, Golabi-Ito-Hall type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 595105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 - Timothy syndrome type 2 - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 93946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 - Hamel cerebro-palato-cardiac syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 - X-linked intellectual disability, Porteous type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 - Laryngotracheoesophageal cleft type 4 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940 - Laryngotracheoesophageal cleft type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939 - Laryngotracheoesophageal cleft type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 - Laryngotracheoesophageal cleft type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93626 - Rare renal disease - - - - - 731 - Autosomal recessive polycystic kidney disease - - - Preferential parent - - - - - - 214 - Cystinuria - - - Preferential parent - - - - - - 112 - Bartter syndrome - - - Preferential parent - - - - - - 1851 - Multicystic dysplastic kidney - - - Preferential parent - - - - - - 63 - Alport syndrome - - - Preferential parent - - - - - - 3467 - Hereditary xanthinuria - - - Preferential parent - - - - - - 976 - Adenine phosphoribosyltransferase deficiency - - - Preferential parent - - - - - - 2134 - Atypical hemolytic uremic syndrome - - - Preferential parent - - - - - - 730 - Autosomal dominant polycystic kidney disease - - - Preferential parent - - - - - - 526 - Liddle syndrome - - - Preferential parent - - - - - - 358 - Gitelman syndrome - - - Preferential parent - - - - - - 1031 - Enamel-renal syndrome - - - Preferential parent - - - - - - 2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - - Preferential parent - - - - - - 2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - - Preferential parent - - - - - - 2613 - Nail-patella-like renal disease - - - Preferential parent - - - - - - 2670 - Pierson syndrome - - - Preferential parent - - - - - - 3032 - NPHP3-related Meckel-like syndrome - - - Preferential parent - - - - - - 3145 - Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome - - - Preferential parent - - - - - - 3156 - Senior-Loken syndrome - - - Preferential parent - - - - - - 3327 - Thyrocerebrorenal syndrome - - - Preferential parent - - - - - - 2666 - Adult familial nephronophthisis-spastic quadriparesia syndrome - - - Preferential parent - - - - - - 416 - Primary hyperoxaluria - - - Preferential parent - - - - - - 655 - Nephronophthisis - - - Preferential parent - - - - - - 656 - Hereditary steroid-resistant nephrotic syndrome - - - Preferential parent - - - - - - 220 - Denys-Drash syndrome - - - Preferential parent - - - - - - 347 - Frasier syndrome - - - Preferential parent - - - - - - 18 - Distal renal tubular acidosis - - - Preferential parent - - - - - - 2197 - Idiopathic hypercalciuria - - - Preferential parent - - - - - - 1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - - Preferential parent - - - - - - 1652 - Dent disease - - - Preferential parent - - - - - - 757 - Pseudohypoaldosteronism type 2 - - - Preferential parent - - - - - - 223 - Arginine vasopressin resistance - - - Preferential parent - - - - - - 3337 - Primary Fanconi renotubular syndrome - - - Preferential parent - - - - - - 839 - Congenital nephrotic syndrome, Finnish type - - - Preferential parent - - - - - - 756 - Pseudohypoaldosteronism type 1 - - - Preferential parent - - - - - - 30924 - Primary hypomagnesemia with secondary hypocalcemia - - - Preferential parent - - - - - - 31043 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - - - Preferential parent - - - - - - 34145 - Immunoglobulin A nephropathy - - - Preferential parent - - - - - - 34149 - Autosomal dominant tubulointerstitial kidney disease - - - Preferential parent - - - - - - 34528 - Autosomal dominant primary hypomagnesemia with hypocalciuria - - - Preferential parent - - - - - - 47159 - Proximal renal tubular acidosis - - - Preferential parent - - - - - - 54370 - Primary membranoproliferative glomerulonephritis - - - Preferential parent - - - - - - 69061 - Idiopathic steroid-sensitive nephrotic syndrome - - - Preferential parent - - - - - - 69063 - Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization - - - Preferential parent - - - - - - 69076 - Familial renal glucosuria - - - Preferential parent - - - - - - 71273 - Renal nutcracker syndrome - - - Preferential parent - - - - - - 73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome - - - Preferential parent - - - - - - 79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - - Preferential parent - - - - - - 84081 - Senior-Boichis syndrome - - - Preferential parent - - - - - - 84087 - Collagen type III glomerulopathy - - - Preferential parent - - - - - - 84090 - Fibronectin glomerulopathy - - - Preferential parent - - - - - - 85450 - Hereditary amyloidosis with primary renal involvement - - - Preferential parent - - - - - - 88659 - Autosomal dominant progressive nephropathy with hypertension - - - Preferential parent - - - - - - 88660 - Hypertension due to gain-of-function mutations in the mineralocorticoid receptor - - - Preferential parent - - - - - - 88917 - X-linked Alport syndrome - - - Preferential parent - - - - - - 88918 - Autosomal dominant Alport syndrome - - - Preferential parent - - - - - - 88919 - Autosomal recessive Alport syndrome - - - Preferential parent - - - - - - 88938 - Pseudohypoaldosteronism type 2A - - - Preferential parent - - - - - - 88939 - Pseudohypoaldosteronism type 2B - - - Preferential parent - - - - - - 88940 - Pseudohypoaldosteronism type 2C - - - Preferential parent - - - - - - 88949 - MUC1-related autosomal dominant tubulointerstitial kidney disease - - - Preferential parent - - - - - - 88950 - UMOD-related autosomal dominant tubulointerstitial kidney disease - - - Preferential parent - - - - - - 89938 - Bartter syndrome type 4 - - - Preferential parent - - - - - - 91136 - Acquired monoclonal Ig light chain-associated Fanconi syndrome - - - Preferential parent - - - - - - 91137 - Immunotactoid or fibrillary glomerulopathy - - - Preferential parent - - - - - - 91500 - Tubulointerstitial nephritis and uveitis syndrome - - - Preferential parent - - - - - - 93126 - Pauci-immune glomerulonephritis - - - Preferential parent - - - - - - 93164 - Transient pseudohypoaldosteronism - - - Preferential parent - - - - - - 93548 - Glomerular disease - - - Preferential parent - - - - - - 93560 - AApoAI amyloidosis - - - Preferential parent - - - - - - 93561 - ALys amyloidosis - - - Preferential parent - - - - - - 93562 - AFib amyloidosis - - - Preferential parent - - - - - - 93571 - Dense deposit disease - - - Preferential parent - - - - - - 93573 - Thrombotic microangiopathy - - - Preferential parent - - - - - - 93581 - Atypical hemolytic uremic syndrome with anti-factor H antibodies - - - Preferential parent - - - - - - 93587 - Genetic cystic renal disease - - - Preferential parent - - - - - - 93589 - Late-onset nephronophthisis - - - Preferential parent - - - - - - 93591 - Infantile nephronophthisis - - - Preferential parent - - - - - - 93592 - Juvenile nephronophthisis - - - Preferential parent - - - - - - 93593 - Nephropathy secondary to a storage or other metabolic disease - - - Preferential parent - - - - - - 93598 - Primary hyperoxaluria type 1 - - - Preferential parent - - - - - - 93599 - Primary hyperoxaluria type 2 - - - Preferential parent - - - - - - 93600 - Primary hyperoxaluria type 3 - - - Preferential parent - - - - - - 93601 - Xanthinuria type I - - - Preferential parent - - - - - - 93602 - Xanthinuria type II - - - Preferential parent - - - - - - 93603 - Rare renal tubular disease - - - Preferential parent - - - - - - 93605 - Bartter syndrome type 3 - - - Preferential parent - - - - - - 93606 - Nephrogenic syndrome of inappropriate antidiuresis - - - Preferential parent - - - - - - 93607 - Autosomal recessive proximal renal tubular acidosis - - - Preferential parent - - - - - - 93608 - Autosomal dominant distal renal tubular acidosis - - - Preferential parent - - - - - - 93610 - Distal renal tubular acidosis with anemia - - - Preferential parent - - - - - - 93612 - Cystinuria type A - - - Preferential parent - - - - - - 93613 - Cystinuria type B - - - Preferential parent - - - - - - 93614 - Hematological disorder with renal involvement - - - Preferential parent - - - - - - 93618 - Rare cause of hypertension - - - Preferential parent - - - - - - 93622 - Dent disease type 1 - - - Preferential parent - - - - - - 93623 - Dent disease type 2 - - - Preferential parent - - - - - - 94088 - Hereditary renal hypouricemia - - - Preferential parent - - - - - - 97560 - Primary membranous glomerulonephritis - - - Preferential parent - - - - - - 97563 - Pauci-immune glomerulonephritis with ANCA - - - Preferential parent - - - - - - 97564 - Pauci-immune glomerulonephritis without ANCA - - - Preferential parent - - - - - - 97566 - Non-amyloid fibrillary glomerulopathy - - - Preferential parent - - - - - - 97567 - Immunotactoid glomerulopathy - - - Preferential parent - - - - - - 98056 - Rare genetic renal disease - - - Preferential parent - - - - - - 156162 - Renal ciliopathy - - - Preferential parent - - - - - - 156629 - Rare genetic cause of hypertension - - - Preferential parent - - - - - - 171871 - Renal pseudohypoaldosteronism type 1 - - - Preferential parent - - - - - - 171876 - Generalized pseudohypoaldosteronism type 1 - - - Preferential parent - - - - - - 183586 - Genetic glomerular disease - - - Preferential parent - - - - - - 183589 - Genetic thrombotic microangiopathy - - - Preferential parent - - - - - - 183592 - Genetic renal tubular disease - - - Preferential parent - - - - - - 199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - - Preferential parent - - - - - - 217330 - REN-related autosomal dominant tubulointerstitial kidney disease - - - Preferential parent - - - - - - 238269 - AApoAII amyloidosis - - - Preferential parent - - - - - - 244275 - De novo thrombotic microangiopathy after kidney transplantation - - - Preferential parent - - - - - - 244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - - Preferential parent - - - - - - 268316 - Complication in hemodialysis - - - Preferential parent - - - - - - 280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - - Preferential parent - - - - - - 300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - - Preferential parent - - - - - - 300525 - Pseudohypoaldosteronism type 2D - - - Preferential parent - - - - - - 300530 - Pseudohypoaldosteronism type 2E - - - Preferential parent - - - - - - 306516 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis - - - Preferential parent - - - - - - 314822 - Primary renal tubular acidosis - - - Preferential parent - - - - - - 314889 - Autosomal dominant proximal renal tubular acidosis - - - Preferential parent - - - - - - 319328 - Inherited renal cancer-predisposing syndrome - - - Preferential parent - - - - - - 329481 - Lipoprotein glomerulopathy - - - Preferential parent - - - - - - 329903 - Immunoglobulin-mediated membranoproliferative glomerulonephritis - - - Preferential parent - - - - - - 329918 - C3 glomerulopathy - - - Preferential parent - - - - - - 329931 - C3 glomerulonephritis - - - Preferential parent - - - - - - 357502 - Idiopathic nephrotic syndrome - - - Preferential parent - - - - - - 401996 - Karyomegalic interstitial nephritis - - - Preferential parent - - - - - - 402041 - Autosomal recessive distal renal tubular acidosis - - - Preferential parent - - - - - - 404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - - Preferential parent - - - - - - 439232 - AApoAIV amyloidosis - - - Preferential parent - - - - - - 449395 - IgG4-related kidney disease - - - Preferential parent - - - - - - 464359 - Benign metanephric tumor - - - Preferential parent - - - - - - 528105 - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome - - - Preferential parent - - - - - - 544458 - Hemolytic uremic syndrome - - - Preferential parent - - - - - - 544472 - Atypical hemolytic uremic syndrome with complement gene abnormality - - - Preferential parent - - - - - - 544482 - Infection-related hemolytic uremic syndrome - - - Preferential parent - - - - - - 544493 - Streptococcus pneumoniae-associated hemolytic uremic syndrome - - - Preferential parent - - - - - - 544590 - Collagen-related glomerular basement membrane disease - - - Preferential parent - - - - - - 564127 - Genetic nephrotic syndrome - - - Preferential parent - - - - - - 564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - - Preferential parent - - - - - - 567544 - Idiopathic non-lupus full-house nephropathy - - - Preferential parent - - - - - - 567546 - Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance - - - Preferential parent - - - - - - 567548 - Idiopathic steroid-resistant nephrotic syndrome - - - Preferential parent - - - - - - 567550 - Idiopathic multidrug-resistant nephrotic syndrome - - - Preferential parent - - - - - - 567552 - Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy - - - Preferential parent - - - - - - 567562 - Disorder with multisystemic involvement and glomerulopathy - - - Preferential parent - - - - - - 567564 - Nephrotic syndrome without extrarenal manifestations - - - Preferential parent - - - - - - 570371 - Bartter syndrome type 5 - - - Preferential parent - - - - - - 576742 - Genetic hemolytic uremic syndrome - - - Preferential parent - - - - - - 620217 - Bartter syndrome type 1 - - - Preferential parent - - - - - - 620220 - Bartter syndrome type 2 - - - Preferential parent - - - - - - 620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - - Preferential parent - - - - - - 620368 - EGF-related primary hypomagnesemia with intellectual disability - - - Preferential parent - - - - - - 620371 - Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation - - - Preferential parent - - - - - - 653722 - Digenic Alport syndrome - - - Preferential parent - - - - - - 664912 - Neonatal renal venous thrombosis - - - Preferential parent - - - - - - 93665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93665 - Autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 - Hemoglobin H disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93618 - Rare cause of hypertension - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93619 - Rare renal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 93622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 - Dent disease type 1 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 - Dent disease type 2 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672 - Juvenile dermatomyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685 - Unicentric Castleman disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93890 - Rare developmental defect during embryogenesis - - - - - 881 - Turner syndrome - - - Preferential parent - - - - - - 138 - CHARGE syndrome - - - Preferential parent - - - - - - 870 - Down syndrome - - - Preferential parent - - - - - - 908 - Fragile X syndrome - - - Preferential parent - - - - - - 534 - Oculocerebrorenal syndrome of Lowe - - - Preferential parent - - - - - - 567 - 22q11.2 deletion syndrome - - - Preferential parent - - - - - - 739 - Prader-Willi syndrome - - - Preferential parent - - - - - - 904 - Williams syndrome - - - Preferential parent - - - - - - 280 - Wolf-Hirschhorn syndrome - - - Preferential parent - - - - - - 783 - Rubinstein-Taybi syndrome - - - Preferential parent - - - - - - 2182 - Hydrocephalus with stenosis of the aqueduct of Sylvius - - - Preferential parent - - - - - - 181 - X-linked hypohidrotic ectodermal dysplasia - - - Preferential parent - - - - - - 649 - Norrie disease - - - Preferential parent - - - - - - 510 - Lesch-Nyhan syndrome - - - Preferential parent - - - - - - 281 - Monosomy 5p syndrome - - - Preferential parent - - - - - - 752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - - Preferential parent - - - - - - 648 - Noonan syndrome - - - Preferential parent - - - - - - 377 - Gorlin syndrome - - - Preferential parent - - - - - - 857 - Townes-Brocks syndrome - - - Preferential parent - - - - - - 894 - Waardenburg syndrome type 1 - - - Preferential parent - - - - - - 895 - Waardenburg syndrome type 2 - - - Preferential parent - - - - - - 896 - Waardenburg syndrome type 3 - - - Preferential parent - - - - - - 893 - WAGR syndrome - - - Preferential parent - - - - - - 710 - Pfeiffer syndrome - - - Preferential parent - - - - - - 794 - Saethre-Chotzen syndrome - - - Preferential parent - - - - - - 774 - Hereditary hemorrhagic telangiectasia - - - Preferential parent - - - - - - 107 - BOR syndrome - - - Preferential parent - - - - - - 126 - Blepharophimosis-ptosis-epicanthus inversus syndrome - - - Preferential parent - - - - - - 192 - Coffin-Lowry syndrome - - - Preferential parent - - - - - - 201 - Cowden syndrome - - - Preferential parent - - - - - - 207 - Crouzon syndrome - - - Preferential parent - - - - - - 195 - Cat-eye syndrome - - - Preferential parent - - - - - - 52 - Alagille syndrome - - - Preferential parent - - - - - - 50 - Aicardi syndrome - - - Preferential parent - - - - - - 116 - Beckwith-Wiedemann syndrome - - - Preferential parent - - - - - - 87 - Apert syndrome - - - Preferential parent - - - - - - 564 - Meckel syndrome - - - Preferential parent - - - - - - 568 - Microphthalmia, Lenz type - - - Preferential parent - - - - - - 861 - Treacher-Collins syndrome - - - Preferential parent - - - - - - 1991 - Cleft lip with or without cleft palate - - - Preferential parent - - - - - - 199 - Cornelia de Lange syndrome - - - Preferential parent - - - - - - 2162 - Holoprosencephaly - - - Preferential parent - - - - - - 998 - Albinism-deafness syndrome - - - Preferential parent - - - - - - 999 - Ermine phenotype - - - Preferential parent - - - - - - 1465 - Coffin-Siris syndrome - - - Preferential parent - - - - - - 753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency - - - Preferential parent - - - - - - 1598 - Monosomy 18p syndrome - - - Preferential parent - - - - - - 1600 - Monosomy 18q syndrome - - - Preferential parent - - - - - - 1636 - Distal monosomy 7q36 syndrome - - - Preferential parent - - - - - - 1642 - Distal deletion 9p syndrome - - - Preferential parent - - - - - - 8 - 47,XYY syndrome - - - Preferential parent - - - - - - 3378 - Trisomy 13 syndrome - - - Preferential parent - - - - - - 1707 - Distal duplication 15q syndrome - - - Preferential parent - - - - - - 3380 - Trisomy 18 syndrome - - - Preferential parent - - - - - - 1715 - Trisomy 18p syndrome - - - Preferential parent - - - - - - 1716 - Distal duplication 18q syndrome - - - Preferential parent - - - - - - 1727 - 22q11.2 duplication syndrome - - - Preferential parent - - - - - - 236 - Trisomy 9p syndrome - - - Preferential parent - - - - - - 464 - Incontinentia pigmenti - - - Preferential parent - - - - - - 3307 - Tetrasomy 18p syndrome - - - Preferential parent - - - - - - 11 - Pentasomy X syndrome - - - Preferential parent - - - - - - 3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - - Preferential parent - - - - - - 819 - Smith-Magenis syndrome - - - Preferential parent - - - - - - 9 - Tetrasomy X syndrome - - - Preferential parent - - - - - - 2614 - Nail-patella syndrome - - - Preferential parent - - - - - - 915 - Aarskog-Scott syndrome - - - Preferential parent - - - - - - 36 - Acrocallosal syndrome - - - Preferential parent - - - - - - 245 - Nager syndrome - - - Preferential parent - - - - - - 1046 - Lethal hemolytic anemia-genital anomalies syndrome - - - Preferential parent - - - - - - 1059 - Blue rubber bleb nevus - - - Preferential parent - - - - - - 1065 - Aniridia-cerebellar ataxia-intellectual disability syndrome - - - Preferential parent - - - - - - 1143 - Neurogenic arthrogryposis multiplex congenita - - - Preferential parent - - - - - - 1146 - Distal arthrogryposis type 1 - - - Preferential parent - - - - - - 1147 - Sheldon-Hall syndrome - - - Preferential parent - - - - - - 1154 - Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - - - Preferential parent - - - - - - 125 - Bloom syndrome - - - Preferential parent - - - - - - 1406 - Charlie M syndrome - - - Preferential parent - - - - - - 1414 - Cholestasis-lymphedema syndrome - - - Preferential parent - - - - - - 1442 - Ring chromosome 18 syndrome - - - Preferential parent - - - - - - 193 - Cohen syndrome - - - Preferential parent - - - - - - 1488 - Cooper-Jabs syndrome - - - Preferential parent - - - - - - 200 - Isolated corpus callosum agenesis - - - Preferential parent - - - - - - 1538 - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - - Preferential parent - - - - - - 1556 - Cutis marmorata telangiectatica congenita - - - Preferential parent - - - - - - 217 - Isolated Dandy-Walker malformation - - - Preferential parent - - - - - - 235 - Dubowitz syndrome - - - Preferential parent - - - - - - 1770 - XY type gonadal dysgenesis-associated anomalies syndrome - - - Preferential parent - - - - - - 246 - Postaxial acrofacial dysostosis - - - Preferential parent - - - - - - 1880 - Ebstein malformation of the tricuspid valve - - - Preferential parent - - - - - - 1915 - Fetal alcohol syndrome - - - Preferential parent - - - - - - 295 - Fetal parvovirus syndrome - - - Preferential parent - - - - - - 1931 - Frontal encephalocele - - - Preferential parent - - - - - - 2053 - Freeman-Sheldon syndrome - - - Preferential parent - - - - - - 2135 - Cutaneous mastocytosis-deafness-microtia syndrome - - - Preferential parent - - - - - - 2140 - Congenital diaphragmatic hernia - - - Preferential parent - - - - - - 2185 - Congenital hydrocephalus - - - Preferential parent - - - - - - 2248 - Hypoplastic left heart syndrome - - - Preferential parent - - - - - - 2300 - Isolated multiple intestinal atresia - - - Preferential parent - - - - - - 2301 - Congenital short bowel syndrome - - - Preferential parent - - - - - - 2308 - Jacobsen syndrome - - - Preferential parent - - - - - - 2318 - Joubert syndrome with oculorenal defect - - - Preferential parent - - - - - - 477 - KID syndrome - - - Preferential parent - - - - - - 2346 - Angioosteohypertrophic syndrome - - - Preferential parent - - - - - - 502 - Trichorhinophalangeal syndrome type 2 - - - Preferential parent - - - - - - 2377 - Laurence-Moon syndrome - - - Preferential parent - - - - - - 2414 - Congenital pulmonary lymphangiectasia - - - Preferential parent - - - - - - 2430 - Congenital macroglossia - - - Preferential parent - - - - - - 2444 - Congenital pulmonary airway malformation - - - Preferential parent - - - - - - 2466 - MASA syndrome - - - Preferential parent - - - - - - 570 - Moebius syndrome - - - Preferential parent - - - - - - 2612 - Linear nevus sebaceus syndrome - - - Preferential parent - - - - - - 660 - Omphalocele - - - Preferential parent - - - - - - 884 - Pallister-Killian syndrome - - - Preferential parent - - - - - - 718 - Isolated Pierre Robin sequence - - - Preferential parent - - - - - - 744 - Proteus syndrome - - - Preferential parent - - - - - - 2970 - Prune belly syndrome - - - Preferential parent - - - - - - 2982 - 46,XX difference of sex development - - - Preferential parent - - - - - - 2983 - Difference of sex development-intellectual disability syndrome - - - Preferential parent - - - - - - 3071 - Costello syndrome - - - Preferential parent - - - - - - 290 - Congenital rubella syndrome - - - Preferential parent - - - - - - 799 - Schizencephaly - - - Preferential parent - - - - - - 813 - Silver-Russell syndrome - - - Preferential parent - - - - - - 3169 - Sirenomelia - - - Preferential parent - - - - - - 821 - Sotos syndrome - - - Preferential parent - - - - - - 3205 - Sturge-Weber syndrome - - - Preferential parent - - - - - - 3320 - Thrombocytopenia-absent radius syndrome - - - Preferential parent - - - - - - 858 - Congenital toxoplasmosis - - - Preferential parent - - - - - - 3346 - Tracheal agenesis - - - Preferential parent - - - - - - 291 - Congenital varicella syndrome - - - Preferential parent - - - - - - 887 - VACTERL/VATER association - - - Preferential parent - - - - - - 3447 - Weaver syndrome - - - Preferential parent - - - - - - 84 - Fanconi anemia - - - Preferential parent - - - - - - 191 - Cockayne syndrome - - - Preferential parent - - - - - - 805 - Tuberous sclerosis complex - - - Preferential parent - - - - - - 886 - Usher syndrome - - - Preferential parent - - - - - - 3440 - Waardenburg syndrome - - - Preferential parent - - - - - - 984 - Pulmonary agenesis - - - Preferential parent - - - - - - 1201 - Small bowel atresia - - - Preferential parent - - - - - - 1202 - Larynx atresia - - - Preferential parent - - - - - - 1199 - Esophageal atresia - - - Preferential parent - - - - - - 322 - Exstrophy-epispadias complex - - - Preferential parent - - - - - - 2368 - Gastroschisis - - - Preferential parent - - - - - - 2512 - Autosomal recessive primary microcephaly - - - Preferential parent - - - - - - 2913 - Non-syndromic polydactyly - - - Preferential parent - - - - - - 755 - Leydig cell hypoplasia - - - Preferential parent - - - - - - 2416 - Congenital primary lymphedema without systemic or visceral involvement - - - Preferential parent - - - - - - 1531 - Craniosynostosis - - - Preferential parent - - - - - - 2040 - Congenital respiratory-biliary fistula - - - Preferential parent - - - - - - 1928 - Congenital lobar emphysema - - - Preferential parent - - - - - - 293 - Congenital herpes simplex virus infection - - - Preferential parent - - - - - - 1209 - Tricuspid atresia - - - Preferential parent - - - - - - 1478 - Interatrial communication - - - Preferential parent - - - - - - 3303 - Tetralogy of Fallot - - - Preferential parent - - - - - - 2177 - Hydranencephaly - - - Preferential parent - - - - - - 1329 - Complete atrioventricular septal defect - - - Preferential parent - - - - - - 1446 - Ring chromosome 22 syndrome - - - Preferential parent - - - - - - 847 - X-linked alpha-thalassemia-intellectual disability syndrome - - - Preferential parent - - - - - - 574 - 21q deletion syndrome - - - Preferential parent - - - - - - 373 - Simpson-Golabi-Behmel syndrome - - - Preferential parent - - - - - - 638 - Neurofibromatosis-Noonan syndrome - - - Preferential parent - - - - - - 627 - Nance-Horan syndrome - - - Preferential parent - - - - - - 3027 - Caudal regression syndrome - - - Preferential parent - - - - - - 897 - Waardenburg-Shah syndrome - - - Preferential parent - - - - - - 902 - Werner syndrome - - - Preferential parent - - - - - - 888 - Van der Woude syndrome - - - Preferential parent - - - - - - 709 - Peters plus syndrome - - - Preferential parent - - - - - - 3103 - Roberts syndrome - - - Preferential parent - - - - - - 776 - Lujan-Fryns syndrome - - - Preferential parent - - - - - - 1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - - Preferential parent - - - - - - 189 - Hidrotic ectodermal dysplasia - - - Preferential parent - - - - - - 48 - Congenital bilateral absence of vas deferens - - - Preferential parent - - - - - - 243 - 46,XX gonadal dysgenesis - - - Preferential parent - - - - - - 475 - Isolated Joubert syndrome - - - Preferential parent - - - - - - 392 - Holt-Oram syndrome - - - Preferential parent - - - - - - 2445 - Conotruncal heart malformations - - - Preferential parent - - - - - - 500 - Noonan syndrome with multiple lentigines - - - Preferential parent - - - - - - 2311 - Autosomal recessive spondylocostal dysostosis - - - Preferential parent - - - - - - 242 - 46,XY complete gonadal dysgenesis - - - Preferential parent - - - - - - 2052 - Fraser syndrome - - - Preferential parent - - - - - - 2014 - Cleft palate - - - Preferential parent - - - - - - 10 - 48,XXYY syndrome - - - Preferential parent - - - - - - 557 - Non-syndromic anorectal malformation - - - Preferential parent - - - - - - 1308 - C syndrome - - - Preferential parent - - - - - - 1354 - Heart defects-limb shortening syndrome - - - Preferential parent - - - - - - 1358 - Carey-Fineman-Ziter syndrome - - - Preferential parent - - - - - - 1437 - Ring chromosome 1 syndrome - - - Preferential parent - - - - - - 1438 - Ring chromosome 10 syndrome - - - Preferential parent - - - - - - 1439 - Ring chromosome 12 syndrome - - - Preferential parent - - - - - - 1444 - Ring chromosome 20 syndrome - - - Preferential parent - - - - - - 1447 - Ring chromosome 4 syndrome - - - Preferential parent - - - - - - 1448 - Ring chromosome 6 syndrome - - - Preferential parent - - - - - - 1450 - Ring chromosome 8 syndrome - - - Preferential parent - - - - - - 1552 - Currarino syndrome - - - Preferential parent - - - - - - 1580 - Distal deletion 10p syndrome - - - Preferential parent - - - - - - 1581 - Non-distal deletion 10q syndrome - - - Preferential parent - - - - - - 1587 - Monosomy 13q14 syndrome - - - Preferential parent - - - - - - 1590 - Distal deletion 13q syndrome - - - Preferential parent - - - - - - 1597 - Distal deletion 17q syndrome - - - Preferential parent - - - - - - 1620 - Distal deletion 3p syndrome - - - Preferential parent - - - - - - 1621 - 3q13 microdeletion syndrome - - - Preferential parent - - - - - - 1627 - Deletion 5q35 syndrome - - - Preferential parent - - - - - - 1643 - Xp22.3 microdeletion syndrome - - - Preferential parent - - - - - - 1695 - Non-distal duplication 10q syndrome - - - Preferential parent - - - - - - 1699 - Trisomy 12p syndrome - - - Preferential parent - - - - - - 1702 - Non-distal duplication 13q syndrome - - - Preferential parent - - - - - - 1703 - Mosaic trisomy 14 syndrome - - - Preferential parent - - - - - - 1705 - Distal duplication 14q syndrome - - - Preferential parent - - - - - - 1713 - 17p11.2 microduplication syndrome - - - Preferential parent - - - - - - 1738 - Trisomy 4p syndrome - - - Preferential parent - - - - - - 1742 - Trisomy 5p syndrome - - - Preferential parent - - - - - - 1745 - Distal duplication 6p syndrome - - - Preferential parent - - - - - - 1752 - Trisomy 8q syndrome - - - Preferential parent - - - - - - 1762 - Proximal Xq28 duplication syndrome - - - Preferential parent - - - - - - 1946 - Amelocerebrohypohidrotic syndrome - - - Preferential parent - - - - - - 1948 - Epilepsy-microcephaly-skeletal dysplasia syndrome - - - Preferential parent - - - - - - 3176 - Spina bifida-hypospadias syndrome - - - Preferential parent - - - - - - 3305 - Tetraploidy syndrome - - - Preferential parent - - - - - - 3306 - Inverted duplicated chromosome 15 syndrome - - - Preferential parent - - - - - - 3310 - Tetrasomy 9p syndrome - - - Preferential parent - - - - - - 3375 - Trisomy X syndrome - - - Preferential parent - - - - - - 3376 - Triploidy syndrome - - - Preferential parent - - - - - - 1692 - Mosaic trisomy 1 syndrome - - - Preferential parent - - - - - - 1698 - Mosaic trisomy 12 syndrome - - - Preferential parent - - - - - - 1706 - Mosaic trisomy 15 syndrome - - - Preferential parent - - - - - - 1708 - Mosaic trisomy 16 syndrome - - - Preferential parent - - - - - - 1711 - Mosaic trisomy 17 syndrome - - - Preferential parent - - - - - - 1445 - Ring chromosome 21 syndrome - - - Preferential parent - - - - - - 7 - 3C syndrome - - - Preferential parent - - - - - - 916 - Aase-Smith syndrome - - - Preferential parent - - - - - - 920 - Ablepharon macrostomia syndrome - - - Preferential parent - - - - - - 921 - Abruzzo-Erickson syndrome - - - Preferential parent - - - - - - 929 - Achalasia-microcephaly syndrome - - - Preferential parent - - - - - - 931 - Isolated acheiropodia - - - Preferential parent - - - - - - 945 - Acalvaria - - - Preferential parent - - - - - - 949 - Acrocraniofacial dysostosis - - - Preferential parent - - - - - - 952 - Acrofacial dysostosis, Weyers type - - - Preferential parent - - - - - - 957 - Acropectorovertebral dysplasia - - - Preferential parent - - - - - - 958 - Acro-renal-mandibular syndrome - - - Preferential parent - - - - - - 959 - Acro-renal-ocular syndrome - - - Preferential parent - - - - - - 971 - Acrorenal syndrome - - - Preferential parent - - - - - - 973 - Isolated absence/hypoplasia of fingers excluding thumb, unilateral - - - Preferential parent - - - - - - 974 - Adams-Oliver syndrome - - - Preferential parent - - - - - - 978 - ADULT syndrome - - - Preferential parent - - - - - - 981 - Internal carotid absence - - - Preferential parent - - - - - - 983 - Testicular regression syndrome - - - Preferential parent - - - - - - 988 - Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome - - - Preferential parent - - - - - - 989 - Hypoglossia-hypodactyly syndrome - - - Preferential parent - - - - - - 990 - Agnathia-holoprosencephaly-situs inversus syndrome - - - Preferential parent - - - - - - 991 - PAGOD syndrome - - - Preferential parent - - - - - - 994 - Fetal akinesia deformation sequence - - - Preferential parent - - - - - - 1001 - 2q37 microdeletion syndrome - - - Preferential parent - - - - - - 1003 - Scalp defects-postaxial polydactyly syndrome - - - Preferential parent - - - - - - 1005 - Alopecia-contractures-dwarfism-intellectual disability syndrome - - - Preferential parent - - - - - - 1008 - Alopecia-epilepsy-pyorrhea-intellectual disability syndrome - - - Preferential parent - - - - - - 1014 - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - - - Preferential parent - - - - - - 64 - Alström syndrome - - - Preferential parent - - - - - - 1028 - Amelo-onycho-hypohidrotic syndrome - - - Preferential parent - - - - - - 1037 - Arthrogryposis multiplex congenita - - - Preferential parent - - - - - - 1041 - Hydrops fetalis - - - Preferential parent - - - - - - 1052 - Mosaic variegated aneuploidy syndrome - - - Preferential parent - - - - - - 1053 - Vein of Galen aneurysmal malformation - - - Preferential parent - - - - - - 1055 - Congenital left ventricular aneurysm - - - Preferential parent - - - - - - 1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - - Preferential parent - - - - - - 1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - - Preferential parent - - - - - - 1068 - Aniridia-intellectual disability syndrome - - - Preferential parent - - - - - - 1069 - Aniridia-absent patella syndrome - - - Preferential parent - - - - - - 1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - - Preferential parent - - - - - - 1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - - Preferential parent - - - - - - 1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - - Preferential parent - - - - - - 1078 - Thumb stiffness-brachydactyly-intellectual disability syndrome - - - Preferential parent - - - - - - 1094 - Anonychia-microcephaly syndrome - - - Preferential parent - - - - - - 1104 - Anophthalmia plus syndrome - - - Preferential parent - - - - - - 1106 - Microphthalmia with limb anomalies - - - Preferential parent - - - - - - 83 - Antley-Bixler syndrome - - - Preferential parent - - - - - - 1110 - Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - - - Preferential parent - - - - - - 1112 - Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome - - - Preferential parent - - - - - - 1113 - Aphalangy-syndactyly-microcephaly syndrome - - - Preferential parent - - - - - - 1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - - Preferential parent - - - - - - 1117 - Aplasia cutis-myopia syndrome - - - Preferential parent - - - - - - 1118 - Fibular aplasia-ectrodactyly syndrome - - - Preferential parent - - - - - - 1120 - Lung agenesis-heart defect-thumb anomalies syndrome - - - Preferential parent - - - - - - 1121 - Radial deficiency-tibial hypoplasia syndrome - - - Preferential parent - - - - - - 1122 - Ulnar hypoplasia-split foot syndrome - - - Preferential parent - - - - - - 1126 - Aprosencephaly cerebellar dysgenesis - - - Preferential parent - - - - - - 1131 - X-linked mandibulofacial dysostosis - - - Preferential parent - - - - - - 1133 - AREDYLD syndrome - - - Preferential parent - - - - - - 1144 - Arthrogryposis-like hand anomaly-sensorineural deafness syndrome - - - Preferential parent - - - - - - 1145 - Infantile-onset X-linked spinal muscular atrophy - - - Preferential parent - - - - - - 1149 - Kuskokwim syndrome - - - Preferential parent - - - - - - 1150 - Arthrogryposis multiplex congenita-whistling face syndrome - - - Preferential parent - - - - - - 1166 - Congenital unilateral hypoplasia of depressor anguli oris - - - Preferential parent - - - - - - 1174 - Cerebellar ataxia-ectodermal dysplasia syndrome - - - Preferential parent - - - - - - 1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - - Preferential parent - - - - - - 1184 - Ataxia-photosensitivity-short stature syndrome - - - Preferential parent - - - - - - 1185 - Spinocerebellar ataxia-dysmorphism syndrome - - - Preferential parent - - - - - - 1187 - Lethal ataxia with deafness and optic atrophy - - - Preferential parent - - - - - - 1188 - Ataxia-deafness-intellectual disability syndrome - - - Preferential parent - - - - - - 1193 - Atkin-Flaitz syndrome - - - Preferential parent - - - - - - 1198 - Colonic atresia - - - Preferential parent - - - - - - 1200 - Burn-McKeown syndrome - - - Preferential parent - - - - - - 1203 - Duodenal atresia - - - Preferential parent - - - - - - 1208 - Pulmonary atresia-intact ventricular septum syndrome - - - Preferential parent - - - - - - 1225 - Baller-Gerold syndrome - - - Preferential parent - - - - - - 1228 - Banki syndrome - - - Preferential parent - - - - - - 109 - Bannayan-Riley-Ruvalcaba syndrome - - - Preferential parent - - - - - - 1231 - Barber-Say syndrome - - - Preferential parent - - - - - - 1234 - Bartsocas-Papas syndrome - - - Preferential parent - - - - - - 1236 - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - - - Preferential parent - - - - - - 115 - Congenital contractural arachnodactyly - - - Preferential parent - - - - - - 1237 - Beemer-Ertbruggen syndrome - - - Preferential parent - - - - - - 1239 - Behr syndrome - - - Preferential parent - - - - - - 1241 - Bencze syndrome - - - Preferential parent - - - - - - 1248 - Maxillonasal dysplasia - - - Preferential parent - - - - - - 1252 - Blepharonasofacial malformation syndrome - - - Preferential parent - - - - - - 1253 - Ascher syndrome - - - Preferential parent - - - - - - 1259 - Blepharoptosis-myopia-ectopia lentis syndrome - - - Preferential parent - - - - - - 1261 - Bonnemann-Meinecke-Reich syndrome - - - Preferential parent - - - - - - 1262 - Böök syndrome - - - Preferential parent - - - - - - 127 - Borjeson-Forssman-Lehmann syndrome - - - Preferential parent - - - - - - 1264 - Tricho-retino-dento-digital syndrome - - - Preferential parent - - - - - - 1270 - Bowen-Conradi syndrome - - - Preferential parent - - - - - - 1275 - Brachydactyly-elbow wrist dysplasia syndrome - - - Preferential parent - - - - - - 1276 - Brachydactyly-arterial hypertension syndrome - - - Preferential parent - - - - - - 1278 - Brachydactyly-preaxial hallux varus syndrome - - - Preferential parent - - - - - - 1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - - Preferential parent - - - - - - 1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - - Preferential parent - - - - - - 1296 - Lambert syndrome - - - Preferential parent - - - - - - 1297 - Branchio-oculo-facial syndrome - - - Preferential parent - - - - - - 1299 - Branchioskeletogenital syndrome - - - Preferential parent - - - - - - 1300 - Autosomal dominant popliteal pterygium syndrome - - - Preferential parent - - - - - - 1305 - Feingold syndrome - - - Preferential parent - - - - - - 1307 - Distal limb deficiencies-micrognathia syndrome - - - Preferential parent - - - - - - 1319 - Camptobrachydactyly - - - Preferential parent - - - - - - 1321 - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome - - - Preferential parent - - - - - - 1323 - Camptodactyly-joint contractures-facial skeletal defects syndrome - - - Preferential parent - - - - - - 1325 - Camptodactyly-taurinuria syndrome - - - Preferential parent - - - - - - 1326 - Camptodactyly syndrome, Guadalajara type 2 - - - Preferential parent - - - - - - 1327 - Camptodactyly syndrome, Guadalajara type 1 - - - Preferential parent - - - - - - 2856 - Persistent Müllerian duct syndrome - - - Preferential parent - - - - - - 1335 - Pentalogy of Cantrell - - - Preferential parent - - - - - - 1338 - Heart defect-tongue hamartoma-polysyndactyly syndrome - - - Preferential parent - - - - - - 1340 - Cardiofaciocutaneous syndrome - - - Preferential parent - - - - - - 1342 - Heart-hand syndrome type 3 - - - Preferential parent - - - - - - 1350 - Heart-hand syndrome type 2 - - - Preferential parent - - - - - - 1352 - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - - Preferential parent - - - - - - 1355 - Congenital heart defect-round face-developmental delay syndrome - - - Preferential parent - - - - - - 1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - - Preferential parent - - - - - - 1368 - Cataract-ataxia-deafness syndrome - - - Preferential parent - - - - - - 1373 - Cataract-aberrant oral frenula-growth delay syndrome - - - Preferential parent - - - - - - 1375 - Cataract-hypertrichosis-intellectual disability syndrome - - - Preferential parent - - - - - - 1377 - Cataract-microcornea syndrome - - - Preferential parent - - - - - - 1380 - Cataract-nephropathy-encephalopathy syndrome - - - Preferential parent - - - - - - 1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - - Preferential parent - - - - - - 1387 - Cataract-intellectual disability-hypogonadism syndrome - - - Preferential parent - - - - - - 1388 - Catel-Manzke syndrome - - - Preferential parent - - - - - - 1389 - Cortical blindness-intellectual disability-polydactyly syndrome - - - Preferential parent - - - - - - 1390 - Night blindness-skeletal anomalies-dysmorphism syndrome - - - Preferential parent - - - - - - 1393 - Cerebrocostomandibular syndrome - - - Preferential parent - - - - - - 1394 - Cerebrofaciothoracic dysplasia - - - Preferential parent - - - - - - 1397 - Hydrocephaly-cerebellar agenesis syndrome - - - Preferential parent - - - - - - 1398 - Isolated cerebellar agenesis - - - Preferential parent - - - - - - 1399 - Richards-Rundle syndrome - - - Preferential parent - - - - - - 1401 - CHAND syndrome - - - Preferential parent - - - - - - 1412 - Tarsal-carpal coalition syndrome - - - Preferential parent - - - - - - 1433 - Choroidal atrophy-alopecia syndrome - - - Preferential parent - - - - - - 1435 - Xq21 microdeletion syndrome - - - Preferential parent - - - - - - 1440 - Ring chromosome 14 syndrome - - - Preferential parent - - - - - - 1443 - Ring chromosome 19 syndrome - - - Preferential parent - - - - - - 1449 - Ring chromosome 7 syndrome - - - Preferential parent - - - - - - 1454 - Joubert syndrome with hepatic defect - - - Preferential parent - - - - - - 190 - Coats disease - - - Preferential parent - - - - - - 1458 - CODAS syndrome - - - Preferential parent - - - - - - 1466 - COFS syndrome - - - Preferential parent - - - - - - 1471 - Coloboma of macula-brachydactyly type B syndrome - - - Preferential parent - - - - - - 1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - - Preferential parent - - - - - - 1486 - Lethal congenital contracture syndrome type 1 - - - Preferential parent - - - - - - 1487 - Cooks syndrome - - - Preferential parent - - - - - - 1490 - Corneal dystrophy-perceptive deafness syndrome - - - Preferential parent - - - - - - 1493 - Vici syndrome - - - Preferential parent - - - - - - 1495 - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - - Preferential parent - - - - - - 1497 - X-linked complicated corpus callosum dysgenesis - - - Preferential parent - - - - - - 1507 - Autosomal recessive Robinow syndrome - - - Preferential parent - - - - - - 1509 - Coxopodopatellar syndrome - - - Preferential parent - - - - - - 1512 - Crane-Heise syndrome - - - Preferential parent - - - - - - 1514 - Craniodigital-intellectual disability syndrome - - - Preferential parent - - - - - - 1515 - Cranioectodermal dysplasia - - - Preferential parent - - - - - - 1516 - Non-syndromic bilambdoid and sagittal craniosynostosis - - - Preferential parent - - - - - - 1517 - Cantú syndrome - - - Preferential parent - - - - - - 1519 - SPECC1L-related hypertelorism syndrome - - - Preferential parent - - - - - - 1520 - Craniofrontonasal dysplasia - - - Preferential parent - - - - - - 1521 - Craniofrontonasal dysplasia-Poland anomaly syndrome - - - Preferential parent - - - - - - 1527 - Craniosynostosis, Philadelphia type - - - Preferential parent - - - - - - 1528 - Craniotelencephalic dysplasia - - - Preferential parent - - - - - - 1529 - Craniofacial-deafness-hand syndrome - - - Preferential parent - - - - - - 1532 - Gómez-López-Hernández syndrome - - - Preferential parent - - - - - - 1540 - Jackson-Weiss syndrome - - - Preferential parent - - - - - - 1547 - Cryptomicrotia-brachydactyly-excess fingertip arch syndrome - - - Preferential parent - - - - - - 1548 - Cryptorchidism-arachnodactyly-intellectual disability syndrome - - - Preferential parent - - - - - - 1553 - Curry-Jones syndrome - - - Preferential parent - - - - - - 1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - - Preferential parent - - - - - - 1563 - Dahlberg-Borer-Newcomer syndrome - - - Preferential parent - - - - - - 1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - - Preferential parent - - - - - - 1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - - Preferential parent - - - - - - 1571 - Knobloch syndrome - - - Preferential parent - - - - - - 3196 - Steroid dehydrogenase deficiency-dental anomalies syndrome - - - Preferential parent - - - - - - 1596 - Distal deletion 15q syndrome - - - Preferential parent - - - - - - 1606 - 1p36 deletion syndrome - - - Preferential parent - - - - - - 1647 - Oculocerebrocutaneous syndrome - - - Preferential parent - - - - - - 1657 - Dermatoosteolysis, Kirghizian type - - - Preferential parent - - - - - - 1660 - Dermoodontodysplasia - - - Preferential parent - - - - - - 1662 - Restrictive dermopathy - - - Preferential parent - - - - - - 1665 - Sporadic fetal brain disruption sequence - - - Preferential parent - - - - - - 1671 - Split cord malformation type I - - - Preferential parent - - - - - - 1756 - Caudal duplication - - - Preferential parent - - - - - - 1757 - Fibular dimelia-diplopodia syndrome - - - Preferential parent - - - - - - 1772 - 45,X/46,XY mixed gonadal dysgenesis - - - Preferential parent - - - - - - 1777 - Temtamy syndrome - - - Preferential parent - - - - - - 1780 - Thakker-Donnai syndrome - - - Preferential parent - - - - - - 1784 - Acrofrontofacionasal dysostosis - - - Preferential parent - - - - - - 1786 - Acrofacial dysostosis, Catania type - - - Preferential parent - - - - - - 1788 - Acrofacial dysostosis, Rodríguez type - - - Preferential parent - - - - - - 1790 - Hypomandibular faciocranial dysostosis - - - Preferential parent - - - - - - 1794 - Oculomaxillofacial dysostosis - - - Preferential parent - - - - - - 1806 - Ectodermal dysplasia-blindness syndrome - - - Preferential parent - - - - - - 1808 - Hidrotic ectodermal dysplasia, Christianson-Fourie type - - - Preferential parent - - - - - - 1809 - Hidrotic ectodermal dysplasia, Halal type - - - Preferential parent - - - - - - 1811 - Odontomicronychial dysplasia - - - Preferential parent - - - - - - 1812 - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - - Preferential parent - - - - - - 1825 - Epiphyseal dysplasia-hearing loss-dysmorphism syndrome - - - Preferential parent - - - - - - 1834 - Axial mesodermal dysplasia spectrum - - - Preferential parent - - - - - - 1858 - Skeletal dysplasia-epilepsy-short stature syndrome - - - Preferential parent - - - - - - 1861 - Thoracic dysplasia-hydrocephalus syndrome - - - Preferential parent - - - - - - 1867 - Hereditary bullous dystrophy, macular type - - - Preferential parent - - - - - - 1873 - Jalili syndrome - - - Preferential parent - - - - - - 1882 - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - - Preferential parent - - - - - - 1883 - Ectodermal dysplasia-sensorineural deafness syndrome - - - Preferential parent - - - - - - 1816 - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - - Preferential parent - - - - - - 1818 - Ectodermal dysplasia, trichoodontoonychial type - - - Preferential parent - - - - - - 1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - - Preferential parent - - - - - - 1892 - Ectrodactyly-polydactyly syndrome - - - Preferential parent - - - - - - 1895 - Edinburgh malformation syndrome - - - Preferential parent - - - - - - 1896 - EEC syndrome - - - Preferential parent - - - - - - 1897 - EEM syndrome - - - Preferential parent - - - - - - 1906 - Fetal valproate spectrum disorder - - - Preferential parent - - - - - - 1908 - Aminopterin/methotrexate embryofetopathy - - - Preferential parent - - - - - - 1909 - Indomethacin embryofetopathy - - - Preferential parent - - - - - - 1910 - Fetal iodine syndrome - - - Preferential parent - - - - - - 1911 - Cocaine embryofetopathy - - - Preferential parent - - - - - - 1918 - Fetal minoxidil syndrome - - - Preferential parent - - - - - - 1912 - Fetal hydantoin syndrome - - - Preferential parent - - - - - - 1913 - Fetal trimethadione syndrome - - - Preferential parent - - - - - - 1914 - Vitamin K antagonist embryofetopathy - - - Preferential parent - - - - - - 294 - Fetal cytomegalovirus syndrome - - - Preferential parent - - - - - - 1916 - Diethylstilbestrol syndrome - - - Preferential parent - - - - - - 1917 - Fetal methylmercury syndrome - - - Preferential parent - - - - - - 1919 - Phenobarbital embryopathy - - - Preferential parent - - - - - - 1920 - Toluene embryopathy - - - Preferential parent - - - - - - 1923 - Methimazole embryofetopathy - - - Preferential parent - - - - - - 1926 - Diabetic embryopathy - - - Preferential parent - - - - - - 2209 - Maternal phenylketonuria syndrome - - - Preferential parent - - - - - - 1927 - Emery-Nelson syndrome - - - Preferential parent - - - - - - 1937 - Eng-Strom syndrome - - - Preferential parent - - - - - - 1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - - Preferential parent - - - - - - 1968 - Flat face-microstomia-ear anomaly syndrome - - - Preferential parent - - - - - - 1969 - Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome - - - Preferential parent - - - - - - 1970 - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - - Preferential parent - - - - - - 1972 - Lethal faciocardiomelic dysplasia - - - Preferential parent - - - - - - 1973 - Faciocardiorenal syndrome - - - Preferential parent - - - - - - 1974 - Autosomal recessive faciodigitogenital syndrome - - - Preferential parent - - - - - - 1986 - Gollop-Wolfgang complex - - - Preferential parent - - - - - - 1987 - Isolated femoral agenesis/hypoplasia - - - Preferential parent - - - - - - 1988 - Femoral-facial syndrome - - - Preferential parent - - - - - - 1993 - Pai syndrome - - - Preferential parent - - - - - - 1995 - Cleft lip-retinopathy syndrome - - - Preferential parent - - - - - - 1997 - Blepharo-cheilo-odontic syndrome - - - Preferential parent - - - - - - 2001 - Cleft lip/palate-intestinal malrotation-cardiopathy syndrome - - - Preferential parent - - - - - - 2003 - Cleft lip/palate-deafness-sacral lipoma syndrome - - - Preferential parent - - - - - - 2004 - Laryngotracheoesophageal cleft - - - Preferential parent - - - - - - 2006 - Median cleft lip/mandible - - - Preferential parent - - - - - - 2007 - Alar cartilages hypoplasia-coloboma-telecanthus syndrome - - - Preferential parent - - - - - - 2008 - Acrocardiofacial syndrome - - - Preferential parent - - - - - - 2010 - Cleft palate-stapes fixation-oligodontia syndrome - - - Preferential parent - - - - - - 2013 - Cleft palate-large ears-small head syndrome - - - Preferential parent - - - - - - 2016 - Cleft palate-lateral synechia syndrome - - - Preferential parent - - - - - - 2017 - Sternal cleft - - - Preferential parent - - - - - - 2019 - Femur-fibula-ulna complex - - - Preferential parent - - - - - - 2025 - Gingival fibromatosis-facial dysmorphism syndrome - - - Preferential parent - - - - - - 2026 - Gingival fibromatosis-hypertrichosis syndrome - - - Preferential parent - - - - - - 2027 - Gingival fibromatosis-progressive deafness syndrome - - - Preferential parent - - - - - - 2031 - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - - Preferential parent - - - - - - 2036 - Scalp-ear-nipple syndrome - - - Preferential parent - - - - - - 2824 - Paraplegia-intellectual disability-hyperkeratosis syndrome - - - Preferential parent - - - - - - 2044 - Floating-Harbor syndrome - - - Preferential parent - - - - - - 2047 - Flynn-Aird syndrome - - - Preferential parent - - - - - - 1791 - Frontofacionasal dysplasia - - - Preferential parent - - - - - - 250 - Frontonasal dysplasia - - - Preferential parent - - - - - - 2057 - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - - Preferential parent - - - - - - 2059 - Fryns syndrome - - - Preferential parent - - - - - - 2063 - Splenogonadal fusion-limb defects-micrognathia syndrome - - - Preferential parent - - - - - - 2064 - Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome - - - Preferential parent - - - - - - 2065 - Galloway-Mowat syndrome - - - Preferential parent - - - - - - 2067 - GAPO syndrome - - - Preferential parent - - - - - - 2074 - Gemignani syndrome - - - Preferential parent - - - - - - 2075 - Genitopalatocardiac syndrome - - - Preferential parent - - - - - - 2077 - German syndrome - - - Preferential parent - - - - - - 2083 - Prominent glabella-microcephaly-hypogenitalism syndrome - - - Preferential parent - - - - - - 2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - - Preferential parent - - - - - - 2090 - GMS syndrome - - - Preferential parent - - - - - - 2091 - Multinodular goiter-cystic kidney-polydactyly syndrome - - - Preferential parent - - - - - - 2092 - Focal dermal hypoplasia - - - Preferential parent - - - - - - 376 - Gordon syndrome - - - Preferential parent - - - - - - 380 - Greig cephalopolysyndactyly syndrome - - - Preferential parent - - - - - - 2101 - Grubben-de Cock-Borghgraef syndrome - - - Preferential parent - - - - - - 2104 - Dysmorphism-pectus carinatum-joint laxity syndrome - - - Preferential parent - - - - - - 2107 - Hall-Riggs syndrome - - - Preferential parent - - - - - - 2108 - Hallermann-Streiff syndrome - - - Preferential parent - - - - - - 2109 - Hallermann-Streiff-like syndrome - - - Preferential parent - - - - - - 2110 - Hallux varus-preaxial polysyndactyly syndrome - - - Preferential parent - - - - - - 2111 - Cystic hamartoma of lung and kidney - - - Preferential parent - - - - - - 2115 - Harrod syndrome - - - Preferential parent - - - - - - 2117 - Hartsfield syndrome - - - Preferential parent - - - - - - 2994 - Short stature-craniofacial anomalies-genital hypoplasia syndrome - - - Preferential parent - - - - - - 2123 - Multifocal infantile hemangioma with extracutenous involvement - - - Preferential parent - - - - - - 2128 - Isolated hemihyperplasia - - - Preferential parent - - - - - - 2130 - Non-syndromic hemimelia - - - Preferential parent - - - - - - 2136 - Hennekam syndrome - - - Preferential parent - - - - - - 2138 - 46,XX ovotesticular difference of sex development - - - Preferential parent - - - - - - 2139 - Hernández-Aguirre Negrete syndrome - - - Preferential parent - - - - - - 2141 - Diaphragmatic defect-limb deficiency-skull defect syndrome - - - Preferential parent - - - - - - 2143 - Donnai-Barrow syndrome - - - Preferential parent - - - - - - 2145 - Craniosynostosis, Herrmann-Opitz type - - - Preferential parent - - - - - - 2149 - Nodular neuronal heterotopia - - - Preferential parent - - - - - - 2148 - Lissencephaly type 1 due to doublecortin gene mutation - - - Preferential parent - - - - - - 2150 - Hirschsprung disease-type D brachydactyly syndrome - - - Preferential parent - - - - - - 2152 - Mowat-Wilson syndrome - - - Preferential parent - - - - - - 2153 - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - - Preferential parent - - - - - - 2155 - Hirschsprung disease-deafness-polydactyly syndrome - - - Preferential parent - - - - - - 2163 - Holoprosencephaly-craniosynostosis syndrome - - - Preferential parent - - - - - - 2165 - Holoprosencephaly-caudal dysgenesis syndrome - - - Preferential parent - - - - - - 2166 - Holoprosencephaly-postaxial polydactyly syndrome - - - Preferential parent - - - - - - 2167 - Holzgreve syndrome - - - Preferential parent - - - - - - 2172 - Microcephaly-glomerulonephritis-marfanoid habitus syndrome - - - Preferential parent - - - - - - 2180 - Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome - - - Preferential parent - - - - - - 2181 - Hydrocephaly-tall stature-joint laxity syndrome - - - Preferential parent - - - - - - 2186 - Hydrocephalus-blue sclerae-nephropathy syndrome - - - Preferential parent - - - - - - 2189 - Hydrolethalus - - - Preferential parent - - - - - - 2202 - Palmoplantar keratoderma-deafness syndrome - - - Preferential parent - - - - - - 2206 - Ankylosing vertebral hyperostosis with tylosis - - - Preferential parent - - - - - - 2211 - Hypertelorism-hypospadias-polysyndactyly syndrome - - - Preferential parent - - - - - - 2213 - Hypertelorism-microtia-facial clefting syndrome - - - Preferential parent - - - - - - 2215 - Multiple pterygium-malignant hyperthermia syndrome - - - Preferential parent - - - - - - 2216 - Maternal hyperthermia-induced birth defects - - - Preferential parent - - - - - - 2218 - Cervical hypertrichosis-peripheral neuropathy syndrome - - - Preferential parent - - - - - - 2220 - Hypertrichosis cubiti - - - Preferential parent - - - - - - 2228 - Hypodontia-dysplasia of nails syndrome - - - Preferential parent - - - - - - 1051 - Ramos-Arroyo syndrome - - - Preferential parent - - - - - - 2229 - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - - Preferential parent - - - - - - 2234 - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - - - Preferential parent - - - - - - 2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - - Preferential parent - - - - - - 2249 - Ulna hypoplasia-intellectual disability syndrome - - - Preferential parent - - - - - - 2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - - Preferential parent - - - - - - 2251 - Thumb deformity-alopecia-pigmentation anomaly syndrome - - - Preferential parent - - - - - - 2252 - Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome - - - Preferential parent - - - - - - 2256 - Fibulo-ulnar hypoplasia-renal anomalies syndrome - - - Preferential parent - - - - - - 2257 - Primary pulmonary hypoplasia - - - Preferential parent - - - - - - 2261 - Hypospadias-intellectual disability, Goldblatt type syndrome - - - Preferential parent - - - - - - 672 - Pallister-Hall syndrome - - - Preferential parent - - - - - - 2266 - Hypotrichosis-intellectual disability, Lopes type - - - Preferential parent - - - - - - 2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - - Preferential parent - - - - - - 139 - CHILD syndrome - - - Preferential parent - - - - - - 2272 - Ichthyosis-oral and digital anomalies syndrome - - - Preferential parent - - - - - - 2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - - Preferential parent - - - - - - 2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - - Preferential parent - - - - - - 2305 - Isotretinoin syndrome - - - Preferential parent - - - - - - 2306 - Isotretinoin-like syndrome - - - Preferential parent - - - - - - 2307 - IVIC syndrome - - - Preferential parent - - - - - - 2310 - Absence deformity of leg-cataract syndrome - - - Preferential parent - - - - - - 2315 - Johanson-Blizzard syndrome - - - Preferential parent - - - - - - 2316 - Johnson neuroectodermal syndrome - - - Preferential parent - - - - - - 2319 - Juberg-Hayward syndrome - - - Preferential parent - - - - - - 2321 - Jung syndrome - - - Preferential parent - - - - - - 2322 - Kabuki syndrome - - - Preferential parent - - - - - - 2323 - Sanjad-Sakati syndrome - - - Preferential parent - - - - - - 2328 - Kapur-Toriello syndrome - - - Preferential parent - - - - - - 2329 - Karsch-Neugebauer syndrome - - - Preferential parent - - - - - - 2332 - KBG syndrome - - - Preferential parent - - - - - - 2339 - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - - Preferential parent - - - - - - 2342 - Haim-Munk syndrome - - - Preferential parent - - - - - - 2351 - Kousseff syndrome - - - Preferential parent - - - - - - 2353 - Schilbach-Rott syndrome - - - Preferential parent - - - - - - 2363 - Lacrimoauriculodentodigital syndrome - - - Preferential parent - - - - - - 2369 - Limb body wall complex - - - Preferential parent - - - - - - 2375 - Laryngeal abductor paralysis-intellectual disability syndrome - - - Preferential parent - - - - - - 2378 - Laurin-Sandrow syndrome - - - Preferential parent - - - - - - 2379 - Early-onset parkinsonism-intellectual disability syndrome - - - Preferential parent - - - - - - 2391 - Congenitally short costocoracoid ligament - - - Preferential parent - - - - - - 2399 - Nasopalpebral lipoma-coloboma syndrome - - - Preferential parent - - - - - - 2408 - Lowe-Kohn-Cohen syndrome - - - Preferential parent - - - - - - 2409 - Lowry-MacLean syndrome - - - Preferential parent - - - - - - 2410 - Hypergonadotropic hypogonadism-cataract syndrome - - - Preferential parent - - - - - - 2412 - Dislocation of the hip-dysmorphism syndrome - - - Preferential parent - - - - - - 2429 - Macrocephaly-spastic paraplegia-dysmorphism syndrome - - - Preferential parent - - - - - - 2432 - Macrosomia-microphthalmia-cleft palate syndrome - - - Preferential parent - - - - - - 2437 - Czeizel-Losonci syndrome - - - Preferential parent - - - - - - 2438 - Hand-foot-genital syndrome - - - Preferential parent - - - - - - 2439 - Patterson-Stevenson-Fontaine syndrome - - - Preferential parent - - - - - - 2440 - Isolated split hand-split foot malformation - - - Preferential parent - - - - - - 2451 - Mucocutaneous venous malformations - - - Preferential parent - - - - - - 2461 - Marden-Walker syndrome - - - Preferential parent - - - - - - 2462 - Shprintzen-Goldberg syndrome - - - Preferential parent - - - - - - 2463 - Marfanoid habitus-autosomal recessive intellectual disability syndrome - - - Preferential parent - - - - - - 2464 - Marfanoid syndrome, De Silva type - - - Preferential parent - - - - - - 561 - Marshall-Smith syndrome - - - Preferential parent - - - - - - 2470 - Matthew-Wood syndrome - - - Preferential parent - - - - - - 2471 - McDonough syndrome - - - Preferential parent - - - - - - 2473 - McKusick-Kaufman syndrome - - - Preferential parent - - - - - - 2475 - White forelock with malformations - - - Preferential parent - - - - - - 2476 - Dysraphism-cleft lip/palate-limb reduction defects syndrome - - - Preferential parent - - - - - - 2477 - Isolated megalencephaly - - - Preferential parent - - - - - - 2479 - Megalocornea-intellectual disability syndrome - - - Preferential parent - - - - - - 2482 - Melhem-Fahl syndrome - - - Preferential parent - - - - - - 2487 - Lower limb malformation-hypospadias syndrome - - - Preferential parent - - - - - - 2489 - Upper limb defect-eye and ear abnormalities syndrome - - - Preferential parent - - - - - - 2491 - Müllerian duct anomalies-limb anomalies syndrome - - - Preferential parent - - - - - - 2492 - FATCO syndrome - - - Preferential parent - - - - - - 2498 - Syndactyly type 8 - - - Preferential parent - - - - - - 2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - - Preferential parent - - - - - - 2510 - Micro syndrome - - - Preferential parent - - - - - - 2511 - Microbrachycephaly-ptosis-cleft lip syndrome - - - Preferential parent - - - - - - 2513 - Microcephaly-albinism-digital anomalies syndrome - - - Preferential parent - - - - - - 2514 - Autosomal dominant primary microcephaly - - - Preferential parent - - - - - - 2515 - Microcephaly-cardiomyopathy syndrome - - - Preferential parent - - - - - - 2516 - Microcephaly-cardiac defect-lung malsegmentation syndrome - - - Preferential parent - - - - - - 2521 - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome - - - Preferential parent - - - - - - 2522 - Microcephaly-cervical spine fusion anomalies syndrome - - - Preferential parent - - - - - - 2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - - Preferential parent - - - - - - 2524 - Pontocerebellar hypoplasia type 2 - - - Preferential parent - - - - - - 2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - - Preferential parent - - - - - - 2528 - Microcephaly-microcornea syndrome, Seemanova type - - - Preferential parent - - - - - - 2533 - Microcephaly-deafness-intellectual disability syndrome - - - Preferential parent - - - - - - 2536 - Microcornea-glaucoma-absent frontal sinuses syndrome - - - Preferential parent - - - - - - 2549 - Oculoauriculovertebral spectrum with radial defects - - - Preferential parent - - - - - - 2551 - Microspherophakia-metaphyseal dysplasia syndrome - - - Preferential parent - - - - - - 2554 - Ear-patella-short stature syndrome - - - Preferential parent - - - - - - 2556 - Microphthalmia with linear skin defects syndrome - - - Preferential parent - - - - - - 2557 - Mietens syndrome - - - Preferential parent - - - - - - 2558 - Mikati-Najjar-Sahli syndrome - - - Preferential parent - - - - - - 2561 - Pyramidal molars-abnormal upper lip syndrome - - - Preferential parent - - - - - - 2563 - MOMO syndrome - - - Preferential parent - - - - - - 2564 - Tetramelic monodactyly - - - Preferential parent - - - - - - 2565 - Mononen-Karnes-Senac syndrome - - - Preferential parent - - - - - - 2570 - Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome - - - Preferential parent - - - - - - 2576 - Mulibrey nanism - - - Preferential parent - - - - - - 2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - - Preferential parent - - - - - - 2588 - Myhre syndrome - - - Preferential parent - - - - - - 2589 - Myoclonus-cerebellar ataxia-deafness syndrome - - - Preferential parent - - - - - - 2608 - N syndrome - - - Preferential parent - - - - - - 2617 - Microcephalic primordial dwarfism, Montreal type - - - Preferential parent - - - - - - 2631 - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - - Preferential parent - - - - - - 2639 - Fibular aplasia-complex brachydactyly syndrome - - - Preferential parent - - - - - - 2662 - Keipert syndrome - - - Preferential parent - - - - - - 2663 - Nathalie syndrome - - - Preferential parent - - - - - - 2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - - Preferential parent - - - - - - 1475 - Renal coloboma syndrome - - - Preferential parent - - - - - - 2671 - Neu-Laxova syndrome - - - Preferential parent - - - - - - 2673 - Neurofaciodigitorenal syndrome - - - Preferential parent - - - - - - 2674 - Cyprus facial-neuromusculoskeletal syndrome - - - Preferential parent - - - - - - 2695 - Bifid nose - - - Preferential parent - - - - - - 2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - - Preferential parent - - - - - - 2699 - Median nodule of the upper lip - - - Preferential parent - - - - - - 2701 - Noonan syndrome-like disorder with loose anagen hair - - - Preferential parent - - - - - - 2703 - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - - Preferential parent - - - - - - 2704 - Urofacial syndrome - - - Preferential parent - - - - - - 2707 - Oculocerebrofacial syndrome, Kaufman type - - - Preferential parent - - - - - - 2709 - Oculodental syndrome, Rutherfurd type - - - Preferential parent - - - - - - 2710 - Oculodentodigital dysplasia - - - Preferential parent - - - - - - 2712 - Oculofaciocardiodental syndrome - - - Preferential parent - - - - - - 2713 - Oculoosteocutaneous syndrome - - - Preferential parent - - - - - - 2714 - Oculo-palato-cerebral syndrome - - - Preferential parent - - - - - - 2715 - Severe oculo-renal-cerebellar syndrome - - - Preferential parent - - - - - - 2717 - Oculotrichoanal syndrome - - - Preferential parent - - - - - - 2718 - Oculotrichodysplasia - - - Preferential parent - - - - - - 2719 - Oculocerebral hypopigmentation syndrome, Cross type - - - Preferential parent - - - - - - 2720 - Oculocerebral hypopigmentation syndrome, Preus type - - - Preferential parent - - - - - - 2721 - Odonto-onycho-dermal dysplasia - - - Preferential parent - - - - - - 2722 - Odonto-onycho dysplasia-alopecia syndrome - - - Preferential parent - - - - - - 2723 - Odontotrichomelic syndrome - - - Preferential parent - - - - - - 2724 - Odontomatosis-aortae esophagus stenosis syndrome - - - Preferential parent - - - - - - 2728 - Blepharophimosis-intellectual disability syndrome, Ohdo type - - - Preferential parent - - - - - - 2730 - Postaxial tetramelic oligodactyly - - - Preferential parent - - - - - - 2732 - Olivopontocerebellar atrophy-deafness syndrome - - - Preferential parent - - - - - - 2736 - Lethal omphalocele-cleft palate syndrome - - - Preferential parent - - - - - - 2741 - Ophthalmomandibulomelic dysplasia - - - Preferential parent - - - - - - 2743 - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - - - Preferential parent - - - - - - 2750 - Orofaciodigital syndrome type 1 - - - Preferential parent - - - - - - 2751 - Orofaciodigital syndrome type 2 - - - Preferential parent - - - - - - 2753 - Orofaciodigital syndrome type 4 - - - Preferential parent - - - - - - 2754 - Orofaciodigital syndrome type 6 - - - Preferential parent - - - - - - 2755 - Orofaciodigital syndrome type 8 - - - Preferential parent - - - - - - 2759 - Imperforate oropharynx-costovertebral anomalies syndrome - - - Preferential parent - - - - - - 2760 - OSLAM syndrome - - - Preferential parent - - - - - - 2769 - Familial osteodysplasia, Anderson type - - - Preferential parent - - - - - - 2791 - Otodental syndrome - - - Preferential parent - - - - - - 2792 - Otofaciocervical syndrome - - - Preferential parent - - - - - - 2793 - Otoonychoperoneal syndrome - - - Preferential parent - - - - - - 2804 - W syndrome - - - Preferential parent - - - - - - 2805 - Partial pancreatic agenesis - - - Preferential parent - - - - - - 675 - Annular pancreas - - - Preferential parent - - - - - - 2825 - PARC syndrome - - - Preferential parent - - - - - - 2832 - Short tarsus-absence of lower eyelashes syndrome - - - Preferential parent - - - - - - 2835 - Pectus excavatum-macrocephaly-dysplastic nails syndrome - - - Preferential parent - - - - - - 2838 - Renal caliceal diverticuli-deafness syndrome - - - Preferential parent - - - - - - 2839 - Pelvis-shoulder dysplasia - - - Preferential parent - - - - - - 2840 - Pelvic dysplasia-arthrogryposis of lower limbs syndrome - - - Preferential parent - - - - - - 2842 - Penoscrotal transposition - - - Preferential parent - - - - - - 2846 - Congenital pericardium anomaly - - - Preferential parent - - - - - - 2847 - Pericardial and diaphragmatic defect - - - Preferential parent - - - - - - 2850 - Alopecia-intellectual disability syndrome - - - Preferential parent - - - - - - 2854 - Fuhrmann syndrome - - - Preferential parent - - - - - - 2855 - Perrault syndrome - - - Preferential parent - - - - - - 708 - Peters anomaly - - - Preferential parent - - - - - - 2863 - Short stature-wormian bones-dextrocardia syndrome - - - Preferential parent - - - - - - 2865 - Short stature-webbed neck-heart disease syndrome - - - Preferential parent - - - - - - 2866 - Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome - - - Preferential parent - - - - - - 2868 - Short stature-valvular heart disease-characteristic facies syndrome - - - Preferential parent - - - - - - 2871 - Pfeiffer-Palm-Teller syndrome - - - Preferential parent - - - - - - 2872 - Cardiocranial syndrome, Pfeiffer type - - - Preferential parent - - - - - - 2874 - Phakomatosis pigmentokeratotica - - - Preferential parent - - - - - - 2875 - Phakomatosis pigmentovascularis - - - Preferential parent - - - - - - 2876 - PHAVER syndrome - - - Preferential parent - - - - - - 2879 - Phocomelia, Schinzel type - - - Preferential parent - - - - - - 2886 - TARP syndrome - - - Preferential parent - - - - - - 2888 - Pierre Robin syndrome-faciodigital anomaly syndrome - - - Preferential parent - - - - - - 2890 - Pili torti-onychodysplasia syndrome - - - Preferential parent - - - - - - 2892 - Pilodental dysplasia-refractive errors syndrome - - - Preferential parent - - - - - - 2896 - Pitt-Hopkins syndrome - - - Preferential parent - - - - - - 2900 - Leri pleonosteosis - - - Preferential parent - - - - - - 2911 - Poland syndrome - - - Preferential parent - - - - - - 2916 - Postaxial polydactyly-dental and vertebral anomalies syndrome - - - Preferential parent - - - - - - 2917 - Polydactyly-myopia syndrome - - - Preferential parent - - - - - - 2919 - Orofaciodigital syndrome type 5 - - - Preferential parent - - - - - - 2920 - Oliver syndrome - - - Preferential parent - - - - - - 2921 - Preaxial polydactyly-colobomata-intellectual disability syndrome - - - Preferential parent - - - - - - 2930 - Cronkhite-Canada syndrome - - - Preferential parent - - - - - - 2934 - Polysyndactyly-cardiac malformation syndrome - - - Preferential parent - - - - - - 2935 - Crossed polysyndactyly - - - Preferential parent - - - - - - 2940 - Porencephaly - - - Preferential parent - - - - - - 2941 - Porencephaly-cerebellar hypoplasia-internal malformations syndrome - - - Preferential parent - - - - - - 1848 - Renal agenesis, bilateral - - - Preferential parent - - - - - - 2946 - Brachydactyly-long thumb syndrome - - - Preferential parent - - - - - - 2947 - Triphalangeal thumbs-brachyectrodactyly syndrome - - - Preferential parent - - - - - - 2951 - Absent thumb-short stature-immunodeficiency syndrome - - - Preferential parent - - - - - - 2952 - Adducted thumbs-arthrogryposis syndrome, Christian type - - - Preferential parent - - - - - - 2956 - Acrodysplasia scoliosis - - - Preferential parent - - - - - - 2957 - Guttmacher syndrome - - - Preferential parent - - - - - - 2958 - X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome - - - Preferential parent - - - - - - 740 - Hutchinson-Gilford progeria syndrome - - - Preferential parent - - - - - - 2959 - Progeria-short stature-pigmented nevi syndrome - - - Preferential parent - - - - - - 2964 - Autosomal dominant prognathism - - - Preferential parent - - - - - - 2972 - Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome - - - Preferential parent - - - - - - 2973 - 46,XX difference of sex development-anorectal anomalies syndrome - - - Preferential parent - - - - - - 2975 - 46,XX difference of sex development-skeletal anomalies syndrome - - - Preferential parent - - - - - - 2980 - Acrootoocular syndrome - - - Preferential parent - - - - - - 2985 - Pseudoprogeria syndrome - - - Preferential parent - - - - - - 2988 - Pterygium colli-intellectual disability-digital anomalies syndrome - - - Preferential parent - - - - - - 2990 - Autosomal recessive multiple pterygium syndrome - - - Preferential parent - - - - - - 3004 - Mirror polydactyly-vertebral segmentation-limbs defects syndrome - - - Preferential parent - - - - - - 3011 - Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - - - Preferential parent - - - - - - 3015 - Radio-renal syndrome - - - Preferential parent - - - - - - 3016 - Absent radius-anogenital anomalies syndrome - - - Preferential parent - - - - - - 3021 - RAPADILINO syndrome - - - Preferential parent - - - - - - 3023 - External auditory canal atresia-vertical talus-hypertelorism syndrome - - - Preferential parent - - - - - - 3026 - Radial ray hypoplasia-choanal atresia syndrome - - - Preferential parent - - - - - - 3033 - Renal tubular dysgenesis - - - Preferential parent - - - - - - 3035 - Growth delay-hydrocephaly-lung hypoplasia syndrome - - - Preferential parent - - - - - - 3038 - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - - - Preferential parent - - - - - - 3041 - Intellectual disability-balding-patella luxation-acromicria syndrome - - - Preferential parent - - - - - - 3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - - Preferential parent - - - - - - 3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - - Preferential parent - - - - - - 3052 - X-linked intellectual disability-seizures-psoriasis syndrome - - - Preferential parent - - - - - - 3055 - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - - Preferential parent - - - - - - 3063 - X-linked intellectual disability, Snyder type - - - Preferential parent - - - - - - 3068 - Intellectual disability-myopathy-short stature-endocrine defect syndrome - - - Preferential parent - - - - - - 3077 - X-linked intellectual disability-psychosis-macroorchidism syndrome - - - Preferential parent - - - - - - 3078 - Severe X-linked intellectual disability, Gustavson type - - - Preferential parent - - - - - - 3079 - Intellectual disability, Buenos-Aires type - - - Preferential parent - - - - - - 3080 - Intellectual disability, Wolff type - - - Preferential parent - - - - - - 3090 - Congenital pulmonary venous return anomaly - - - Preferential parent - - - - - - 3097 - Meacham syndrome - - - Preferential parent - - - - - - 3102 - Richieri Costa-Pereira syndrome - - - Preferential parent - - - - - - 3104 - Robin sequence-oligodactyly syndrome - - - Preferential parent - - - - - - 3107 - Autosomal dominant Robinow syndrome - - - Preferential parent - - - - - - 3109 - Mayer-Rokitansky-Küster-Hauser syndrome - - - Preferential parent - - - - - - 2909 - Rothmund-Thomson syndrome - - - Preferential parent - - - - - - 3121 - Ruvalcaba syndrome - - - Preferential parent - - - - - - 3132 - Say-Barber-Miller syndrome - - - Preferential parent - - - - - - 3134 - SCARF syndrome - - - Preferential parent - - - - - - 798 - Schinzel-Giedion syndrome - - - Preferential parent - - - - - - 3138 - Ulnar-mammary syndrome - - - Preferential parent - - - - - - 647 - Nijmegen breakage syndrome - - - Preferential parent - - - - - - 3157 - Septo-optic dysplasia spectrum - - - Preferential parent - - - - - - 1479 - Atrial septal defect-atrioventricular conduction defects syndrome - - - Preferential parent - - - - - - 3163 - SHORT syndrome - - - Preferential parent - - - - - - 3164 - Omphalocele syndrome, Shprintzen-Goldberg type - - - Preferential parent - - - - - - 3168 - Sillence syndrome - - - Preferential parent - - - - - - 3172 - Eyebrow duplication-syndactyly syndrome - - - Preferential parent - - - - - - 1797 - Autosomal dominant spondylocostal dysostosis - - - Preferential parent - - - - - - 3181 - Sprengel deformity - - - Preferential parent - - - - - - 3184 - Steatocystoma multiplex-natal teeth syndrome - - - Preferential parent - - - - - - 3186 - Holoprosencephaly-radial heart renal anomalies syndrome - - - Preferential parent - - - - - - 3191 - Subaortic stenosis-short stature syndrome - - - Preferential parent - - - - - - 3193 - Supravalvular aortic stenosis - - - Preferential parent - - - - - - 3194 - Corneodermatoosseous syndrome - - - Preferential parent - - - - - - 3199 - Stimmler syndrome - - - Preferential parent - - - - - - 3201 - Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome - - - Preferential parent - - - - - - 3214 - Deaf blind hypopigmentation syndrome, Yemenite type - - - Preferential parent - - - - - - 3216 - Conductive deafness-malformed external ear syndrome - - - Preferential parent - - - - - - 3218 - Deafness-epiphyseal dysplasia-short stature syndrome - - - Preferential parent - - - - - - 3219 - Fountain syndrome - - - Preferential parent - - - - - - 3220 - Deafness-enamel hypoplasia-nail defects syndrome - - - Preferential parent - - - - - - 3224 - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - - Preferential parent - - - - - - 3230 - Deafness-oligodontia syndrome - - - Preferential parent - - - - - - 3231 - Deafness-onychodystrophy syndrome - - - Preferential parent - - - - - - 3232 - Deafness-ear malformation-facial palsy syndrome - - - Preferential parent - - - - - - 3233 - Cochleosaccular degeneration-cataract syndrome - - - Preferential parent - - - - - - 3235 - Progressive deafness with stapes fixation - - - Preferential parent - - - - - - 3236 - Conductive deafness-ptosis-skeletal anomalies syndrome - - - Preferential parent - - - - - - 3237 - Multiple synostoses syndrome - - - Preferential parent - - - - - - 3238 - Cardiospondylocarpofacial syndrome - - - Preferential parent - - - - - - 3241 - Deafness-craniofacial syndrome - - - Preferential parent - - - - - - 3242 - Renpenning syndrome - - - Preferential parent - - - - - - 3246 - Symphalangism with multiple anomalies of hands and feet - - - Preferential parent - - - - - - 3248 - Isolated distal symphalangism - - - Preferential parent - - - - - - 3250 - Proximal symphalangism - - - Preferential parent - - - - - - 3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - - Preferential parent - - - - - - 3255 - Filippi syndrome - - - Preferential parent - - - - - - 3258 - Cenani-Lenz syndrome - - - Preferential parent - - - - - - 3262 - Dobrow syndrome - - - Preferential parent - - - - - - 3265 - Isolated humero-radial synostosis - - - Preferential parent - - - - - - 3266 - Isolated humero-radio-ulnar synostosis - - - Preferential parent - - - - - - 3268 - Radioulnar synostosis-microcephaly-scoliosis syndrome - - - Preferential parent - - - - - - 3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - - Preferential parent - - - - - - 3291 - Teebi-Shaltout syndrome - - - Preferential parent - - - - - - 3292 - Tel Hashomer camptodactyly syndrome - - - Preferential parent - - - - - - 3293 - Telecanthus-hypertelorism-strabismus-pes cavus syndrome - - - Preferential parent - - - - - - 3294 - Extensor tendons of finger anomalies - - - Preferential parent - - - - - - 3301 - Tetraamelia-multiple malformations syndrome - - - Preferential parent - - - - - - 3304 - Fallot complex-intellectual disability-growth delay syndrome - - - Preferential parent - - - - - - 3312 - Thalidomide embryopathy - - - Preferential parent - - - - - - 3316 - Thomas syndrome - - - Preferential parent - - - - - - 3322 - Hoyeraal-Hreidarsson syndrome - - - Preferential parent - - - - - - 3326 - Thymic-renal-anal-lung dysplasia - - - Preferential parent - - - - - - 3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - - Preferential parent - - - - - - 3329 - Tibial aplasia-ectrodactyly syndrome - - - Preferential parent - - - - - - 3338 - Toriello-Carey syndrome - - - Preferential parent - - - - - - 3339 - Oculoectodermal syndrome - - - Preferential parent - - - - - - 3341 - Torticollis-keloids-cryptorchidism-renal dysplasia syndrome - - - Preferential parent - - - - - - 3351 - Trichodental syndrome - - - Preferential parent - - - - - - 3352 - Tricho-dento-osseous syndrome - - - Preferential parent - - - - - - 3353 - Trichodermodysplasia-dental alterations syndrome - - - Preferential parent - - - - - - 3355 - Trichoodontoonychial dysplasia - - - Preferential parent - - - - - - 3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - - Preferential parent - - - - - - 3365 - Trigonocephaly-broad thumbs syndrome - - - Preferential parent - - - - - - 3366 - Non-syndromic metopic craniosynostosis - - - Preferential parent - - - - - - 3368 - Trigonocephaly-bifid nose-acral anomalies syndrome - - - Preferential parent - - - - - - 3369 - Trigonocephaly-short stature-developmental delay syndrome - - - Preferential parent - - - - - - 3377 - Trismus-pseudocamptodactyly syndrome - - - Preferential parent - - - - - - 1717 - Distal duplication 19q syndrome - - - Preferential parent - - - - - - 1723 - Mosaic trisomy 2 syndrome - - - Preferential parent - - - - - - 1724 - Mosaic trisomy 20 syndrome - - - Preferential parent - - - - - - 1747 - Mosaic trisomy 7 syndrome - - - Preferential parent - - - - - - 3383 - Humerus trochlea aplasia - - - Preferential parent - - - - - - 3384 - Common arterial trunk - - - Preferential parent - - - - - - 3388 - Neural tube defect - - - Preferential parent - - - - - - 3404 - Ulbright-Hodes syndrome - - - Preferential parent - - - - - - 3409 - Urban-Rogers-Meyer syndrome - - - Preferential parent - - - - - - 3412 - VACTERL with hydrocephalus - - - Preferential parent - - - - - - 2460 - Van den Ende-Gupta syndrome - - - Preferential parent - - - - - - 3417 - Van den Bosch syndrome - - - Preferential parent - - - - - - 3424 - Velo-facial-skeletal syndrome - - - Preferential parent - - - - - - 3429 - Verloove Vanhorick-Brubakk syndrome - - - Preferential parent - - - - - - 3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - - Preferential parent - - - - - - 3434 - MMEP syndrome - - - Preferential parent - - - - - - 3448 - Weaver-Williams syndrome - - - Preferential parent - - - - - - 3449 - Weill-Marchesani syndrome - - - Preferential parent - - - - - - 3454 - Wieacker-Wolff syndrome - - - Preferential parent - - - - - - 3455 - Wiedemann-Rautenstrauch syndrome - - - Preferential parent - - - - - - 3456 - Wildervanck syndrome - - - Preferential parent - - - - - - 3459 - Wilson-Turner syndrome - - - Preferential parent - - - - - - 3466 - WT limb-blood syndrome - - - Preferential parent - - - - - - 3469 - XK aprosencephaly syndrome - - - Preferential parent - - - - - - 3473 - Zimmermann-Laband syndrome - - - Preferential parent - - - - - - 1827 - Acromelic frontonasal dysplasia - - - Preferential parent - - - - - - 2749 - Oromandibular-limb hypogenesis syndrome - - - Preferential parent - - - - - - 2995 - Baraitser-Winter cerebrofrontofacial syndrome - - - Preferential parent - - - - - - 3200 - Arthrogryposis-ectodermal dysplasia syndrome - - - Preferential parent - - - - - - 1570 - Symbrachydactyly of hands and feet - - - Preferential parent - - - - - - 1759 - Thoraco-abdominal enteric duplication - - - Preferential parent - - - - - - 1277 - Brachydactyly-mesomelia-intellectual disability-heart defects syndrome - - - Preferential parent - - - - - - 2547 - Microphthalmia-microtia-fetal akinesia syndrome - - - Preferential parent - - - - - - 1778 - Facial dysmorphism-shawl scrotum-joint laxity syndrome - - - Preferential parent - - - - - - 3074 - Intellectual disability-short stature-hypertelorism syndrome - - - Preferential parent - - - - - - 1415 - Hardikar syndrome - - - Preferential parent - - - - - - 2151 - Hirschsprung disease-ganglioneuroblastoma syndrome - - - Preferential parent - - - - - - 2519 - Microcephaly-seizures-intellectual disability-heart disease syndrome - - - Preferential parent - - - - - - 3405 - Umbilical cord ulceration-intestinal atresia syndrome - - - Preferential parent - - - - - - 2254 - Pontocerebellar hypoplasia type 1 - - - Preferential parent - - - - - - 2183 - Hydrocephalus-obesity-hypogonadism syndrome - - - Preferential parent - - - - - - 2898 - X-linked intellectual disability-plagiocephaly syndrome - - - Preferential parent - - - - - - 2062 - Progressive non-infectious anterior vertebral fusion - - - Preferential parent - - - - - - 2015 - Cleft palate-short stature-vertebral anomalies syndrome - - - Preferential parent - - - - - - 2427 - Macrocephaly-short stature-paraplegia syndrome - - - Preferential parent - - - - - - 2058 - Fryns-Smeets-Thiry syndrome - - - Preferential parent - - - - - - 2538 - Microgastria-limb reduction defect syndrome - - - Preferential parent - - - - - - 3207 - White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome - - - Preferential parent - - - - - - 1130 - Arachnodactyly-intellectual disability-dysmorphism syndrome - - - Preferential parent - - - - - - 2326 - Kallmann syndrome-heart disease syndrome - - - Preferential parent - - - - - - 1541 - Craniosynostosis, Boston type - - - Preferential parent - - - - - - 1768 - Familial caudal dysgenesis - - - Preferential parent - - - - - - 1134 - Isolated arrhinia - - - Preferential parent - - - - - - 1485 - Arthrogryposis-hyperkeratosis syndrome, lethal form - - - Preferential parent - - - - - - 3051 - Nicolaides-Baraitser syndrome - - - Preferential parent - - - - - - 1272 - Aymé-Gripp syndrome - - - Preferential parent - - - - - - 1779 - Dysmorphism-cleft palate-loose skin syndrome - - - Preferential parent - - - - - - 2184 - Hydrocephaly-low insertion umbilicus syndrome - - - Preferential parent - - - - - - 1101 - Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome - - - Preferential parent - - - - - - 3439 - Von Voss-Cherstvoy syndrome - - - Preferential parent - - - - - - 1681 - Diprosopus - - - Preferential parent - - - - - - 1655 - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - - Preferential parent - - - - - - 1129 - Arachnodactyly-abnormal ossification-intellectual disability syndrome - - - Preferential parent - - - - - - 1383 - Cataract-deafness-hypogonadism syndrome - - - Preferential parent - - - - - - 1524 - Craniomicromelic syndrome - - - Preferential parent - - - - - - 1123 - Caudal appendage-deafness syndrome - - - Preferential parent - - - - - - 3263 - Syngnathia-cleft palate syndrome - - - Preferential parent - - - - - - 110 - Bardet-Biedl syndrome - - - Preferential parent - - - - - - 566 - Congenital microcoria - - - Preferential parent - - - - - - 2745 - Opitz GBBB syndrome - - - Preferential parent - - - - - - 982 - Pulmonary valve agenesis - - - Preferential parent - - - - - - 980 - Absence of the pulmonary artery - - - Preferential parent - - - - - - 1054 - Aneurysm of sinus of Valsalva - - - Preferential parent - - - - - - 1081 - Coronary artery congenital malformation - - - Preferential parent - - - - - - 1132 - Aortic arch defects - - - Preferential parent - - - - - - 1138 - Abnormal origin of the pulmonary artery - - - Preferential parent - - - - - - 1207 - Pulmonary atresia with ventricular septal defect - - - Preferential parent - - - - - - 1456 - Middle aortic syndrome - - - Preferential parent - - - - - - 1457 - Aorta coarctation - - - Preferential parent - - - - - - 1463 - Triatrial heart - - - Preferential parent - - - - - - 1686 - Cardiac diverticulum - - - Preferential parent - - - - - - 2037 - Congenital aortopulmonary window - - - Preferential parent - - - - - - 2038 - Pulmonary arteriovenous malformation - - - Preferential parent - - - - - - 2039 - Congenital systemic arteriovenous fistula - - - Preferential parent - - - - - - 2041 - Coronary arterial fistula - - - Preferential parent - - - - - - 439 - Isolated right ventricular hypoplasia - - - Preferential parent - - - - - - 2447 - Congenital mitral malformation - - - Preferential parent - - - - - - 2299 - Aortic arch interruption - - - Preferential parent - - - - - - 3426 - Double outlet right ventricle - - - Preferential parent - - - - - - 3427 - Double outlet left ventricle - - - Preferential parent - - - - - - 3091 - Congenital systemic veins anomaly - - - Preferential parent - - - - - - 3092 - Fixed subaortic stenosis - - - Preferential parent - - - - - - 3093 - Congenital aortic valve stenosis - - - Preferential parent - - - - - - 3161 - Congenital pulmonary sequestration - - - Preferential parent - - - - - - 3188 - Congenital pulmonary veins atresia or stenosis - - - Preferential parent - - - - - - 3189 - Congenital pulmonary valvar stenosis - - - Preferential parent - - - - - - 3190 - Subpulmonary stenosis - - - Preferential parent - - - - - - 185 - Scimitar syndrome - - - Preferential parent - - - - - - 860 - Congenitally uncorrected transposition of the great arteries - - - Preferential parent - - - - - - 3400 - Aorto-ventricular tunnel - - - Preferential parent - - - - - - 1464 - Univentricular heart - - - Preferential parent - - - - - - 2849 - Perlman syndrome - - - Preferential parent - - - - - - 3082 - Intellectual disability-polydactyly-uncombable hair syndrome - - - Preferential parent - - - - - - 782 - Axenfeld-Rieger syndrome - - - Preferential parent - - - - - - 3259 - Syndactyly-polydactyly-ear lobe syndrome - - - Preferential parent - - - - - - 3269 - Isolated radio-ulnar synostosis - - - Preferential parent - - - - - - 3309 - Tetrasomy 5p syndrome - - - Preferential parent - - - - - - 3379 - Distal duplication 17q syndrome - - - Preferential parent - - - - - - 3411 - Double uterus-hemivagina-renal agenesis syndrome - - - Preferential parent - - - - - - 3474 - CHIME syndrome - - - Preferential parent - - - - - - 1441 - Ring chromosome 17 syndrome - - - Preferential parent - - - - - - 1787 - Acrofacial dysostosis, Palagonia type - - - Preferential parent - - - - - - 3240 - Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome - - - Preferential parent - - - - - - 2415 - Rare lymphatic malformation - - - Preferential parent - - - - - - 1246 - Brachydactyly-nystagmus-cerebellar ataxia syndrome - - - Preferential parent - - - - - - 818 - Smith-Lemli-Opitz syndrome - - - Preferential parent - - - - - - 1309 - Medullary sponge kidney - - - Preferential parent - - - - - - 2345 - Isolated Klippel-Feil syndrome - - - Preferential parent - - - - - - 2260 - Oligomeganephronia - - - Preferential parent - - - - - - 531 - Miller-Dieker syndrome - - - Preferential parent - - - - - - 452 - X-linked lissencephaly with abnormal genitalia - - - Preferential parent - - - - - - 1084 - Isolated lissencephaly type 1 without known genetic defects - - - Preferential parent - - - - - - 1083 - Microlissencephaly - - - Preferential parent - - - - - - 823 - Spina bifida and other spinal dysraphisms - - - Preferential parent - - - - - - 1048 - Isolated anencephaly/exencephaly - - - Preferential parent - - - - - - 2356 - Arachnoid cyst - - - Preferential parent - - - - - - 741 - Familial mitral valve prolapse - - - Preferential parent - - - - - - 393 - 46,XX testicular difference of sex development - - - Preferential parent - - - - - - 248 - Autosomal recessive hypohidrotic ectodermal dysplasia - - - Preferential parent - - - - - - 1810 - Autosomal dominant hypohidrotic ectodermal dysplasia - - - Preferential parent - - - - - - 450 - Heterotaxia - - - Preferential parent - - - - - - 898 - Wagner disease - - - Preferential parent - - - - - - 1330 - Partial atrioventricular septal defect - - - Preferential parent - - - - - - 1677 - Familial idiopathic dilatation of the right atrium - - - Preferential parent - - - - - - 1676 - Idiopathic pulmonary artery dilatation - - - Preferential parent - - - - - - 1666 - Dextrocardia - - - Preferential parent - - - - - - 1461 - Criss-cross heart - - - Preferential parent - - - - - - 1205 - Mitral atresia - - - Preferential parent - - - - - - 3192 - Supravalvular pulmonary stenosis - - - Preferential parent - - - - - - 73 - Gorham-Stout disease - - - Preferential parent - - - - - - 105 - Atresia of urethra - - - Preferential parent - - - - - - 237 - Duplication of urethra - - - Preferential parent - - - - - - 488 - Urachal cyst - - - Preferential parent - - - - - - 490 - Omphalomesenteric cyst - - - Preferential parent - - - - - - 674 - Accessory pancreas - - - Preferential parent - - - - - - 49 - Penile agenesis - - - Preferential parent - - - - - - 227 - Diphallia - - - Preferential parent - - - - - - 272 - Congenital muscular dystrophy, Fukuyama type - - - Preferential parent - - - - - - 899 - Walker-Warburg syndrome - - - Preferential parent - - - - - - 588 - Muscle-eye-brain disease - - - Preferential parent - - - - - - 30391 - Isolated biliary atresia - - - Preferential parent - - - - - - 33001 - Lymphedema-distichiasis syndrome - - - Preferential parent - - - - - - 33108 - Lethal multiple pterygium syndrome - - - Preferential parent - - - - - - 33364 - Trichothiodystrophy - - - Preferential parent - - - - - - 35093 - Non-syndromic sagittal craniosynostosis - - - Preferential parent - - - - - - 35099 - Non-syndromic bicoronal craniosynostosis - - - Preferential parent - - - - - - 35125 - Epidermal nevus syndrome - - - Preferential parent - - - - - - 35612 - Nanophthalmos - - - Preferential parent - - - - - - 35737 - Morning glory disc anomaly - - - Preferential parent - - - - - - 35981 - Polymicrogyria - - - Preferential parent - - - - - - 36367 - Distal deletion 1q syndrome - - - Preferential parent - - - - - - 40366 - Acitretin/etretinate embryopathy - - - Preferential parent - - - - - - 68335 - Rare chromosomal anomaly - - - Preferential parent - - - - - - 68341 - Multiple congenital anomalies/dysmorphic syndrome - - - Preferential parent - - - - - - 68378 - Congenital limb malformation - - - Preferential parent - - - - - - 42665 - Tietz syndrome - - - Preferential parent - - - - - - 42775 - PHACE syndrome - - - Preferential parent - - - - - - 46627 - Char syndrome - - - Preferential parent - - - - - - 46724 - Cerebral arteriovenous malformation - - - Preferential parent - - - - - - 48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - - Preferential parent - - - - - - 48471 - Lissencephaly - - - Preferential parent - - - - - - 48652 - Phelan-McDermid syndrome - - - Preferential parent - - - - - - 50810 - Microlissencephaly-micromelia syndrome - - - Preferential parent - - - - - - 50814 - Craniolenticulosutural dysplasia - - - Preferential parent - - - - - - 50815 - Branchiogenic deafness syndrome - - - Preferential parent - - - - - - 50944 - Schöpf-Schulz-Passarge syndrome - - - Preferential parent - - - - - - 51577 - Cobblestone lissencephaly - - - Preferential parent - - - - - - 52022 - Potocki-Shaffer syndrome - - - Preferential parent - - - - - - 52047 - Braddock syndrome - - - Preferential parent - - - - - - 52054 - Craniosynostosis-intracranial calcifications syndrome - - - Preferential parent - - - - - - 52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - - Preferential parent - - - - - - 52056 - Ulnar/fibula ray defect-brachydactyly syndrome - - - Preferential parent - - - - - - 52368 - Mohr-Tranebjaerg syndrome - - - Preferential parent - - - - - - 52429 - Branchiootic syndrome - - - Preferential parent - - - - - - 52662 - Rare teratologic disease - - - Preferential parent - - - - - - 53271 - Muenke syndrome - - - Preferential parent - - - - - - 53540 - Goldmann-Favre syndrome - - - Preferential parent - - - - - - 53696 - Arthrogryposis-anterior horn cell disease syndrome - - - Preferential parent - - - - - - 53719 - Cerebrofacial arteriovenous metameric syndrome type 2 - - - Preferential parent - - - - - - 53721 - Spinal arteriovenous metameric syndrome - - - Preferential parent - - - - - - 59315 - Rhombencephalosynapsis - - - Preferential parent - - - - - - 60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - - Preferential parent - - - - - - 63259 - Iniencephaly - - - Preferential parent - - - - - - 63260 - Craniorachischisis - - - Preferential parent - - - - - - 63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - - Preferential parent - - - - - - 63862 - Schisis association - - - Preferential parent - - - - - - 64542 - Acrofacial dysostosis, Kennedy-Teebi type - - - Preferential parent - - - - - - 65285 - Lhermitte-Duclos disease - - - Preferential parent - - - - - - 65286 - 3q29 microdeletion syndrome - - - Preferential parent - - - - - - 65681 - Vaginal atresia - - - Preferential parent - - - - - - 65720 - Arthrogryposis-severe scoliosis syndrome - - - Preferential parent - - - - - - 65743 - Autosomal dominant multiple pterygium syndrome - - - Preferential parent - - - - - - 65759 - Carpenter syndrome - - - Preferential parent - - - - - - 66625 - Cerebrooculonasal syndrome - - - Preferential parent - - - - - - 66629 - Goldberg-Shprintzen megacolon syndrome - - - Preferential parent - - - - - - 66630 - Congenital pseudoarthrosis of the clavicle - - - Preferential parent - - - - - - 66631 - CEDNIK syndrome - - - Preferential parent - - - - - - 66637 - Diaphanospondylodysostosis - - - Preferential parent - - - - - - 69028 - Dysostosis with brachydactyly - - - Preferential parent - - - - - - 69082 - Odonto-tricho-ungual-digito-palmar syndrome - - - Preferential parent - - - - - - 69083 - Ectodermal dysplasia with natal teeth, Turnpenny type - - - Preferential parent - - - - - - 69084 - Pure hair and nail ectodermal dysplasia - - - Preferential parent - - - - - - 69085 - Limb-mammary syndrome - - - Preferential parent - - - - - - 69087 - Naegeli-Franceschetti-Jadassohn syndrome - - - Preferential parent - - - - - - 69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - - Preferential parent - - - - - - 69737 - Bosley-Salih-Alorainy syndrome - - - Preferential parent - - - - - - 71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - - Preferential parent - - - - - - 71271 - Split hand-split foot-deafness syndrome - - - Preferential parent - - - - - - 71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - - Preferential parent - - - - - - 73217 - Müllerian aplasia - - - Preferential parent - - - - - - 73223 - Global developmental delay-osteopenia-ectodermal defect syndrome - - - Preferential parent - - - - - - 73246 - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - - - Preferential parent - - - - - - 75389 - Brain malformation-congenital heart disease-postaxial polydactyly syndrome - - - Preferential parent - - - - - - 75508 - Angioosteohypotrophic syndrome - - - Preferential parent - - - - - - 75857 - 6q terminal deletion syndrome - - - Preferential parent - - - - - - 75858 - MORM syndrome - - - Preferential parent - - - - - - 77240 - Primary lymphedema - - - Preferential parent - - - - - - 77258 - Trichorhinophalangeal syndrome type 1 - - - Preferential parent - - - - - - 77296 - Morgagni-Stewart-Morel syndrome - - - Preferential parent - - - - - - 77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - - Preferential parent - - - - - - 77299 - Microphthalmia-brain atrophy syndrome - - - Preferential parent - - - - - - 77300 - Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome - - - Preferential parent - - - - - - 77301 - Monosomy 9q22.3 syndrome - - - Preferential parent - - - - - - 79094 - Grange syndrome - - - Preferential parent - - - - - - 79107 - Developmental malformations-deafness-dystonia syndrome - - - Preferential parent - - - - - - 79113 - Mandibulofacial dysostosis-microcephaly syndrome - - - Preferential parent - - - - - - 79129 - Trichodysplasia-amelogenesis imperfecta syndrome - - - Preferential parent - - - - - - 79133 - Focal facial dermal dysplasia type I - - - Preferential parent - - - - - - 79447 - X-linked lethal multiple pterygium syndrome - - - Preferential parent - - - - - - 79452 - Milroy disease - - - Preferential parent - - - - - - 79474 - Atypical Werner syndrome - - - Preferential parent - - - - - - 79483 - Phakomatosis cesioflammea - - - Preferential parent - - - - - - 79484 - Phakomatosis cesiomarmorata - - - Preferential parent - - - - - - 79485 - Phakomatosis spilorosea - - - Preferential parent - - - - - - 79489 - Macrocystic lymphatic malformation - - - Preferential parent - - - - - - 79490 - Microcystic lymphatic malformation - - - Preferential parent - - - - - - 79499 - Autosomal dominant deafness-onychodystrophy syndrome - - - Preferential parent - - - - - - 79500 - DOORS syndrome - - - Preferential parent - - - - - - 83001 - Urogenital tract malformation - - - Preferential parent - - - - - - 83454 - Glomuvenous malformation - - - Preferential parent - - - - - - 83461 - Congenital primary aphakia - - - Preferential parent - - - - - - 83463 - Microtia - - - Preferential parent - - - - - - 83472 - CAMOS syndrome - - - Preferential parent - - - - - - 83473 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - - Preferential parent - - - - - - 83617 - Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome - - - Preferential parent - - - - - - 83619 - Macrostomia-preauricular tags-external ophthalmoplegia syndrome - - - Preferential parent - - - - - - 83628 - LUMBAR syndrome - - - Preferential parent - - - - - - 85112 - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - - Preferential parent - - - - - - 85163 - Hypomyelination-congenital cataract syndrome - - - Preferential parent - - - - - - 85164 - Camptodactyly-tall stature-scoliosis-hearing loss syndrome - - - Preferential parent - - - - - - 85169 - Familial digital arthropathy-brachydactyly - - - Preferential parent - - - - - - 85173 - IMAGe syndrome - - - Preferential parent - - - - - - 85199 - Craniosynostosis-anal anomalies-porokeratosis syndrome - - - Preferential parent - - - - - - 85201 - Genitopatellar syndrome - - - Preferential parent - - - - - - 85202 - Keutel syndrome - - - Preferential parent - - - - - - 85203 - Acropectoral syndrome - - - Preferential parent - - - - - - 85273 - X-linked intellectual disability, Abidi type - - - Preferential parent - - - - - - 85274 - Syndromic X-linked intellectual disability 7 - - - Preferential parent - - - - - - 85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - - Preferential parent - - - - - - 85276 - X-linked intellectual disability, Armfield type - - - Preferential parent - - - - - - 85277 - X-linked intellectual disability, Cantagrel type - - - Preferential parent - - - - - - 85278 - Christianson syndrome - - - Preferential parent - - - - - - 85279 - KDM5C-related syndromic X-linked intellectual disability - - - Preferential parent - - - - - - 85280 - X-linked intellectual disability-cubitus valgus-dysmorphism syndrome - - - Preferential parent - - - - - - 85282 - MEHMO syndrome - - - Preferential parent - - - - - - 85283 - X-linked intellectual disability, Miles-Carpenter type - - - Preferential parent - - - - - - 85284 - BRESEK syndrome - - - Preferential parent - - - - - - 85285 - X-linked intellectual disability, Schimke type - - - Preferential parent - - - - - - 85286 - X-linked intellectual disability, Shashi type - - - Preferential parent - - - - - - 85287 - X-linked intellectual disability, Siderius type - - - Preferential parent - - - - - - 85288 - X-linked intellectual disability, Stocco Dos Santos type - - - Preferential parent - - - - - - 85290 - X-linked intellectual disability, Wilson type - - - Preferential parent - - - - - - 85292 - X-linked spinocerebellar ataxia type 4 - - - Preferential parent - - - - - - 85293 - X-linked intellectual disability, Cabezas type - - - Preferential parent - - - - - - 85294 - X-linked epilepsy-learning disabilities-behavior disorders syndrome - - - Preferential parent - - - - - - 85295 - HSD10 disease, atypical type - - - Preferential parent - - - - - - 85297 - X-linked spinocerebellar ataxia type 3 - - - Preferential parent - - - - - - 85317 - X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome - - - Preferential parent - - - - - - 85319 - X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome - - - Preferential parent - - - - - - 85320 - X-linked intellectual disability-macrocephaly-macroorchidism syndrome - - - Preferential parent - - - - - - 85321 - Deafness-intellectual disability syndrome, Martin-Probst type - - - Preferential parent - - - - - - 85322 - X-linked intellectual disability, Pai type - - - Preferential parent - - - - - - 85323 - X-linked intellectual disability, Seemanova type - - - Preferential parent - - - - - - 85324 - X-linked intellectual disability, Shrimpton type - - - Preferential parent - - - - - - 85325 - X-linked intellectual disability, Stevenson type - - - Preferential parent - - - - - - 85326 - X-linked intellectual disability, Stoll type - - - Preferential parent - - - - - - 85327 - X-linked intellectual disability-acromegaly-hyperactivity syndrome - - - Preferential parent - - - - - - 85329 - X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome - - - Preferential parent - - - - - - 85332 - X-linked intellectual disability-retinitis pigmentosa syndrome - - - Preferential parent - - - - - - 85334 - X-linked neurodegenerative syndrome, Bertini type - - - Preferential parent - - - - - - 85335 - Fried syndrome - - - Preferential parent - - - - - - 85336 - X-linked neurodegenerative syndrome, Hamel type - - - Preferential parent - - - - - - 85338 - X-linked intellectual disability-ataxia-apraxia syndrome - - - Preferential parent - - - - - - 86789 - Isolated patella aplasia/hypoplasia - - - Preferential parent - - - - - - 86818 - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - - Preferential parent - - - - - - 86821 - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - - Preferential parent - - - - - - 86822 - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - - Preferential parent - - - - - - 86823 - Lissencephaly with cerebellar hypoplasia - - - Preferential parent - - - - - - 86914 - Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome - - - Preferential parent - - - - - - 86915 - Lymphedema-atrial septal defects-facial changes syndrome - - - Preferential parent - - - - - - 88632 - Anterior segment developmental anomaly - - - Preferential parent - - - - - - 88924 - Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - - - Preferential parent - - - - - - 88991 - Rare congenital non-syndromic heart malformation - - - Preferential parent - - - - - - 88993 - Esophageal malformation - - - Preferential parent - - - - - - 89844 - Lissencephaly syndrome, Norman-Roberts type - - - Preferential parent - - - - - - 90025 - Non-syndromic syndactyly - - - Preferential parent - - - - - - 90186 - Meige disease - - - Preferential parent - - - - - - 90307 - Parkes Weber syndrome - - - Preferential parent - - - - - - 90308 - Capillary-lymphatic-venous malformation with segmental distribution - - - Preferential parent - - - - - - 90321 - Cockayne syndrome type 1 - - - Preferential parent - - - - - - 90322 - Cockayne syndrome type 2 - - - Preferential parent - - - - - - 90324 - Cockayne syndrome type 3 - - - Preferential parent - - - - - - 90771 - Difference of sex development - - - Preferential parent - - - - - - 90776 - 46,XX difference of sex development induced by fetal androgens excess - - - Preferential parent - - - - - - 90783 - 46,XY difference of sex development due to a testosterone synthesis defect - - - Preferential parent - - - - - - 90786 - 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect - - - Preferential parent - - - - - - 90787 - 46,XY difference of sex development due to testicular steroidogenesis defect - - - Preferential parent - - - - - - 90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - - Preferential parent - - - - - - 90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - - Preferential parent - - - - - - 90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - - Preferential parent - - - - - - 90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - - Preferential parent - - - - - - 90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - - Preferential parent - - - - - - 90796 - 46,XY difference of sex development due to isolated 17,20-lyase deficiency - - - Preferential parent - - - - - - 90797 - Partial androgen insensitivity syndrome - - - Preferential parent - - - - - - 91144 - 46,XX difference of sex development induced by maternal-derived androgen - - - Preferential parent - - - - - - 91357 - Duplication of the esophagus - - - Preferential parent - - - - - - 91358 - Congenital esophageal diverticulum - - - Preferential parent - - - - - - 91387 - Familial thoracic aortic aneurysm and aortic dissection - - - Preferential parent - - - - - - 91396 - Isolated cryptophthalmia - - - Preferential parent - - - - - - 91397 - Isolated ankyloblepharon filiforme adnatum - - - Preferential parent - - - - - - 91416 - Isolated congenital alacrima - - - Preferential parent - - - - - - 91483 - Rieger anomaly - - - Preferential parent - - - - - - 91489 - Isolated congenital megalocornea - - - Preferential parent - - - - - - 91490 - Isolated congenital sclerocornea - - - Preferential parent - - - - - - 91491 - Congenital ectropion uveae - - - Preferential parent - - - - - - 91494 - Macular coloboma-cleft palate-hallux valgus syndrome - - - Preferential parent - - - - - - 93100 - Renal agenesis, unilateral - - - Preferential parent - - - - - - 93101 - Renal hypoplasia - - - Preferential parent - - - - - - 93108 - Renal dysplasia - - - Preferential parent - - - - - - 93109 - Congenital megacalycosis - - - Preferential parent - - - - - - 93110 - Posterior urethral valve - - - Preferential parent - - - - - - 93172 - Renal dysplasia, unilateral - - - Preferential parent - - - - - - 93173 - Renal dysplasia, bilateral - - - Preferential parent - - - - - - 93176 - Unilateral congenital megacalycosis - - - Preferential parent - - - - - - 93177 - Congenital bilateral megacalycosis - - - Preferential parent - - - - - - 93258 - Pfeiffer syndrome type 1 - - - Preferential parent - - - - - - 93259 - Pfeiffer syndrome type 2 - - - Preferential parent - - - - - - 93260 - Pfeiffer syndrome type 3 - - - Preferential parent - - - - - - 93262 - Crouzon syndrome-acanthosis nigricans syndrome - - - Preferential parent - - - - - - 93267 - Cloverleaf skull-multiple congenital anomalies syndrome - - - Preferential parent - - - - - - 93293 - Okihiro syndrome - - - Preferential parent - - - - - - 93320 - Isolated ulnar hemimelia - - - Preferential parent - - - - - - 93321 - Isolated radial hemimelia - - - Preferential parent - - - - - - 93322 - Isolated tibial hemimelia - - - Preferential parent - - - - - - 93323 - Isolated fibular hemimelia - - - Preferential parent - - - - - - 93333 - Pelviscapular dysplasia - - - Preferential parent - - - - - - 93334 - Postaxial polydactyly type A - - - Preferential parent - - - - - - 93335 - Postaxial polydactyly type B - - - Preferential parent - - - - - - 93336 - Polydactyly of a triphalangeal thumb - - - Preferential parent - - - - - - 93337 - Polydactyly of an index finger - - - Preferential parent - - - - - - 93338 - Polysyndactyly - - - Preferential parent - - - - - - 93339 - Polydactyly of a biphalangeal thumb and/or hallux - - - Preferential parent - - - - - - 93382 - Brachydactyly type A6 - - - Preferential parent - - - - - - 93383 - Brachydactyly type B - - - Preferential parent - - - - - - 93384 - Brachydactyly type C - - - Preferential parent - - - - - - 93387 - Brachydactyly type E - - - Preferential parent - - - - - - 93388 - Brachydactyly type A1 - - - Preferential parent - - - - - - 93394 - Brachydactyly type A4 - - - Preferential parent - - - - - - 93396 - Brachydactyly type A2 - - - Preferential parent - - - - - - 93397 - Brachydactyly type A7 - - - Preferential parent - - - - - - 93402 - Syndactyly type 1 - - - Preferential parent - - - - - - 93403 - Syndactyly type 2 - - - Preferential parent - - - - - - 93404 - Syndactyly type 3 - - - Preferential parent - - - - - - 93405 - Syndactyly type 4 - - - Preferential parent - - - - - - 93406 - Syndactyly type 5 - - - Preferential parent - - - - - - 93409 - Brachydactyly-syndactyly, Zhao type - - - Preferential parent - - - - - - 93453 - Dysostosis with predominant craniofacial involvement - - - Preferential parent - - - - - - 93454 - Dysostosis with predominant vertebral and costal involvement - - - Preferential parent - - - - - - 93455 - Patellar dysostosis - - - Preferential parent - - - - - - 93457 - Non-syndromic limb reduction defect - - - Preferential parent - - - - - - 93458 - Non-syndromic polydactyly, syndactyly and/or hyperphalangy - - - Preferential parent - - - - - - 93459 - Syndrome with synostosis or other joint formation defect - - - Preferential parent - - - - - - 93460 - Overgrowth syndrome - - - Preferential parent - - - - - - 93461 - Chromosomal disease with overgrowth - - - Preferential parent - - - - - - 93545 - Renal or urinary tract malformation - - - Preferential parent - - - - - - 93546 - Non-syndromic renal or urinary tract malformation - - - Preferential parent - - - - - - 93547 - Syndromic renal or urinary tract malformation - - - Preferential parent - - - - - - 93924 - Lobar holoprosencephaly - - - Preferential parent - - - - - - 93925 - Alobar holoprosencephaly - - - Preferential parent - - - - - - 93926 - Midline interhemispheric variant of holoprosencephaly - - - Preferential parent - - - - - - 93928 - Isolated epispadias - - - Preferential parent - - - - - - 93929 - Cloacal exstrophy - - - Preferential parent - - - - - - 93930 - Classic bladder exstrophy - - - Preferential parent - - - - - - 93932 - FG syndrome type 1 - - - Preferential parent - - - - - - 93938 - Laryngotracheoesophageal cleft type 1 - - - Preferential parent - - - - - - 93939 - Laryngotracheoesophageal cleft type 2 - - - Preferential parent - - - - - - 93940 - Laryngotracheoesophageal cleft type 3 - - - Preferential parent - - - - - - 93941 - Laryngotracheoesophageal cleft type 4 - - - Preferential parent - - - - - - 93945 - X-linked intellectual disability, Porteous type - - - Preferential parent - - - - - - 93946 - Hamel cerebro-palato-cardiac syndrome - - - Preferential parent - - - - - - 93947 - X-linked intellectual disability, Golabi-Ito-Hall type - - - Preferential parent - - - - - - 93950 - X-linked intellectual disability, Sutherland-Haan type - - - Preferential parent - - - - - - 93952 - X-linked intellectual disability, Hedera type - - - Preferential parent - - - - - - 93969 - Open spinal dysraphism with a myelomeningocele - - - Preferential parent - - - - - - 93976 - Anotia - - - Preferential parent - - - - - - 94056 - Isolated humero-ulnar synostosis - - - Preferential parent - - - - - - 94065 - 15q24 microdeletion syndrome - - - Preferential parent - - - - - - 94066 - Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia - - - Preferential parent - - - - - - 94083 - Partington syndrome - - - Preferential parent - - - - - - 95232 - Lissencephaly due to LIS1 mutation - - - Preferential parent - - - - - - 95443 - Mesocardia - - - Preferential parent - - - - - - 95448 - Congenital aortic valve atresia - - - Preferential parent - - - - - - 95457 - Tricuspid valve agenesis - - - Preferential parent - - - - - - 95459 - Congenital tricuspid stenosis - - - Preferential parent - - - - - - 95461 - Straddling or overriding tricuspid valve - - - Preferential parent - - - - - - 95462 - Accessory tricuspid valve tissue - - - Preferential parent - - - - - - 95463 - Anomaly of the tricuspid subvalvular apparatus - - - Preferential parent - - - - - - 95464 - Congenital mitral valve insufficiency and/or stenosis - - - Preferential parent - - - - - - 95465 - Cleft mitral valve - - - Preferential parent - - - - - - 95474 - Double-orifice mitral valve - - - Preferential parent - - - - - - 95483 - Univentricular cardiopathy - - - Preferential parent - - - - - - 95485 - Arterial duct anomaly - - - Preferential parent - - - - - - 95486 - Premature closure of the arterial duct - - - Preferential parent - - - - - - 95491 - Congenital coronary artery aneurysm - - - Preferential parent - - - - - - 95498 - Congenital anomaly of superior vena cava - - - Preferential parent - - - - - - 95499 - Congenital anomaly of the inferior vena cava - - - Preferential parent - - - - - - 95500 - Congenital anomaly of the coronary sinus - - - Preferential parent - - - - - - 95507 - Congenital anomaly of hepatic vein - - - Preferential parent - - - - - - 95510 - Atrial appendage anomaly - - - Preferential parent - - - - - - 95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - - Preferential parent - - - - - - 95706 - Non-syndromic posterior hypospadias - - - Preferential parent - - - - - - 95707 - Idiopathic isolated micropenis - - - Preferential parent - - - - - - 95854 - Levocardia - - - Preferential parent - - - - - - 96055 - Tetrasomy 21 syndrome - - - Preferential parent - - - - - - 96059 - Mosaic trisomy 4 syndrome - - - Preferential parent - - - - - - 96060 - Mosaic trisomy 5 syndrome - - - Preferential parent - - - - - - 96061 - Mosaic trisomy 8 syndrome - - - Preferential parent - - - - - - 96063 - Mosaic trisomy 10 syndrome - - - Preferential parent - - - - - - 96068 - Mosaic trisomy 22 syndrome - - - Preferential parent - - - - - - 96069 - Distal duplication 1p36 syndrome - - - Preferential parent - - - - - - 96070 - Distal duplication 2p syndrome - - - Preferential parent - - - - - - 96071 - Distal duplication 3p syndrome - - - Preferential parent - - - - - - 96072 - 4p16.3 microduplication syndrome - - - Preferential parent - - - - - - 96074 - Distal duplication 7p syndrome - - - Preferential parent - - - - - - 96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - - Preferential parent - - - - - - 96078 - 16p13.3 microduplication syndrome - - - Preferential parent - - - - - - 96092 - 8p inverted duplication/deletion syndrome - - - Preferential parent - - - - - - 96094 - Distal duplication 2q syndrome - - - Preferential parent - - - - - - 96095 - 3q26 microduplication syndrome - - - Preferential parent - - - - - - 96096 - Distal duplication 4q syndrome - - - Preferential parent - - - - - - 96097 - Distal duplication 5q syndrome - - - Preferential parent - - - - - - 96098 - Distal duplication 6q syndrome - - - Preferential parent - - - - - - 96100 - Distal duplication 8q syndrome - - - Preferential parent - - - - - - 96101 - Distal duplication 9q syndrome - - - Preferential parent - - - - - - 96102 - Distal duplication 10q syndrome - - - Preferential parent - - - - - - 96103 - Distal duplication 11q syndrome - - - Preferential parent - - - - - - 96105 - Distal duplication 13q syndrome - - - Preferential parent - - - - - - 96106 - Distal duplication 16q syndrome - - - Preferential parent - - - - - - 96107 - Distal duplication 20q syndrome - - - Preferential parent - - - - - - 96109 - Distal duplication 22q syndrome - - - Preferential parent - - - - - - 96112 - Non-distal duplication 9q syndrome - - - Preferential parent - - - - - - 96121 - 7q11.23 microduplication syndrome - - - Preferential parent - - - - - - 96123 - Monosomy 22 syndrome - - - Preferential parent - - - - - - 96125 - Distal deletion 6p syndrome - - - Preferential parent - - - - - - 96126 - Distal deletion 7p syndrome - - - Preferential parent - - - - - - 96129 - Distal deletion 19p syndrome - - - Preferential parent - - - - - - 96145 - Distal deletion 4q syndrome - - - Preferential parent - - - - - - 96147 - Kleefstra syndrome due to 9q34 microdeletion - - - Preferential parent - - - - - - 96148 - Distal deletion 10q syndrome - - - Preferential parent - - - - - - 96149 - Distal deletion 12q syndrome - - - Preferential parent - - - - - - 96150 - Distal deletion 14q syndrome - - - Preferential parent - - - - - - 96160 - Non-distal deletion 12q syndrome - - - Preferential parent - - - - - - 96167 - Recombinant 8 syndrome - - - Preferential parent - - - - - - 96168 - Monosomy 13q34 syndrome - - - Preferential parent - - - - - - 96169 - Koolen-De Vries syndrome - - - Preferential parent - - - - - - 96170 - Emanuel syndrome - - - Preferential parent - - - - - - 96171 - Ring chromosome 2 syndrome - - - Preferential parent - - - - - - 96172 - Ring chromosome 3 syndrome - - - Preferential parent - - - - - - 96173 - Ring chromosome 9 syndrome - - - Preferential parent - - - - - - 96175 - Ring chromosome 11 syndrome - - - Preferential parent - - - - - - 96176 - Ring chromosome 13 syndrome - - - Preferential parent - - - - - - 96177 - Ring chromosome 15 syndrome - - - Preferential parent - - - - - - 96178 - Ring chromosome 16 syndrome - - - Preferential parent - - - - - - 96179 - Maternal uniparental disomy of chromosome 2 syndrome - - - Preferential parent - - - - - - 96180 - Maternal uniparental disomy of chromosome 4 syndrome - - - Preferential parent - - - - - - 96181 - Maternal uniparental disomy of chromosome 6 syndrome - - - Preferential parent - - - - - - 96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - - Preferential parent - - - - - - 96183 - Maternal uniparental disomy of chromosome 9 syndrome - - - Preferential parent - - - - - - 96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - - Preferential parent - - - - - - 96185 - Maternal uniparental disomy of chromosome 16 syndrome - - - Preferential parent - - - - - - 96186 - Maternal uniparental disomy of chromosome 20 syndrome - - - Preferential parent - - - - - - 96187 - Maternal uniparental disomy of chromosome 21 syndrome - - - Preferential parent - - - - - - 96188 - Maternal uniparental disomy of chromosome 22 syndrome - - - Preferential parent - - - - - - 96190 - Paternal uniparental disomy of chromosome 5 syndrome - - - Preferential parent - - - - - - 96191 - Paternal uniparental disomy of chromosome 6 syndrome - - - Preferential parent - - - - - - 96192 - Paternal uniparental disomy of chromosome 7 syndrome - - - Preferential parent - - - - - - 96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - - Preferential parent - - - - - - 96194 - Paternal uniparental disomy of chromosome 20 syndrome - - - Preferential parent - - - - - - 96195 - Paternal uniparental disomy of chromosome 21 syndrome - - - Preferential parent - - - - - - 96201 - X small rings syndrome - - - Preferential parent - - - - - - 96263 - 48,XXXY syndrome - - - Preferential parent - - - - - - 96264 - 49,XXXXY syndrome - - - Preferential parent - - - - - - 96265 - Leydig cell hypoplasia due to complete LH resistance - - - Preferential parent - - - - - - 96266 - Leydig cell hypoplasia due to partial LH resistance - - - Preferential parent - - - - - - 96269 - Isolated partial vaginal agenesis - - - Preferential parent - - - - - - 96321 - Polyploidy syndrome - - - Preferential parent - - - - - - 96325 - Isochromosome Y syndrome - - - Preferential parent - - - - - - 96333 - Rare otorhinolaryngological malformation - - - Preferential parent - - - - - - 96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - - Preferential parent - - - - - - 96346 - Anorectal malformation - - - Preferential parent - - - - - - 97120 - Distal arthrogryposis - - - Preferential parent - - - - - - 97214 - Eisenmenger syndrome - - - Preferential parent - - - - - - 97249 - Pontocerebellar hypoplasia type 3 - - - Preferential parent - - - - - - 97252 - Mega-cisterna magna - - - Preferential parent - - - - - - 97297 - Bohring-Opitz syndrome - - - Preferential parent - - - - - - 97339 - Dural sinus malformation - - - Preferential parent - - - - - - 97340 - Hunter-McAlpine syndrome - - - Preferential parent - - - - - - 97360 - Robinow syndrome - - - Preferential parent - - - - - - 97361 - Renal hypoplasia, unilateral - - - Preferential parent - - - - - - 97362 - Renal hypoplasia, bilateral - - - Preferential parent - - - - - - 97363 - Unilateral multicystic dysplastic kidney - - - Preferential parent - - - - - - 97364 - Bilateral multicystic dysplastic kidney - - - Preferential parent - - - - - - 97366 - Multiloculated renal cyst - - - Preferential parent - - - - - - 97367 - Renal tubular dysgenesis due to twin-twin transfusion - - - Preferential parent - - - - - - 97368 - Drug-related renal tubular dysgenesis - - - Preferential parent - - - - - - 97369 - Renal tubular dysgenesis of genetic origin - - - Preferential parent - - - - - - 97548 - Right sided atrial isomerism - - - Preferential parent - - - - - - 97598 - Congenital renal artery stenosis - - - Preferential parent - - - - - - 97678 - Maternal uniparental disomy of chromosome 13 syndrome - - - Preferential parent - - - - - - 97685 - 17q11 microdeletion syndrome - - - Preferential parent - - - - - - 97944 - Gastroduodenal malformation - - - Preferential parent - - - - - - 97945 - Intestinal malformation - - - Preferential parent - - - - - - 97957 - Respiratory or thoracic malformation - - - Preferential parent - - - - - - 97965 - Rare surgical cardiac disease - - - Preferential parent - - - - - - 98038 - Cranial malformation - - - Preferential parent - - - - - - 98039 - Digestive tract malformation - - - Preferential parent - - - - - - 98041 - Visceral malformation of the liver, biliary tract, pancreas or spleen - - - Preferential parent - - - - - - 98043 - Diaphragmatic or abdominal wall malformation - - - Preferential parent - - - - - - 98044 - Central nervous system malformation - - - Preferential parent - - - - - - 98045 - Respiratory or mediastinal malformation - - - Preferential parent - - - - - - 98074 - Gonadal dysgenesis of gynecological interest - - - Preferential parent - - - - - - 98078 - 46,XX difference of sex development induced by androgens excess - - - Preferential parent - - - - - - 98085 - 46,XY difference of sex development - - - Preferential parent - - - - - - 98086 - 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue - - - Preferential parent - - - - - - 98087 - Syndrome with 46,XY difference of sex development - - - Preferential parent - - - - - - 98127 - Autosomal anomaly syndrome - - - Preferential parent - - - - - - 98130 - Autosomal trisomy syndrome - - - Preferential parent - - - - - - 98131 - Total autosomal trisomy syndrome - - - Preferential parent - - - - - - 98132 - Partial autosomal duplication/triplication syndrome - - - Preferential parent - - - - - - 98141 - Total autosomal monosomy syndrome - - - Preferential parent - - - - - - 98142 - Partial autosomal deletion syndrome - - - Preferential parent - - - - - - 98152 - Autosomal uniparental disomy syndrome - - - Preferential parent - - - - - - 98153 - Maternal uniparental disomy syndrome - - - Preferential parent - - - - - - 98154 - Paternal uniparental disomy syndrome - - - Preferential parent - - - - - - 98155 - Sex-chromosome anomaly syndrome - - - Preferential parent - - - - - - 98156 - Sex-chromosome number anomaly syndrome - - - Preferential parent - - - - - - 98157 - Sex-chromosome structural anomaly syndrome - - - Preferential parent - - - - - - 98158 - Chromosome Y structural anomaly syndrome - - - Preferential parent - - - - - - 98159 - Chromosome X structural anomaly syndrome - - - Preferential parent - - - - - - 98196 - Malformation syndrome with hamartosis - - - Preferential parent - - - - - - 98313 - Male infertility due to gonadal dysgenesis - - - Preferential parent - - - - - - 98514 - Malformation of the cerebellar vermis - - - Preferential parent - - - - - - 98516 - Malformation of the cerebellar hemispheres - - - Preferential parent - - - - - - 98518 - Cranial nerve and nuclear aplasia - - - Preferential parent - - - - - - 98519 - Posterior fossa malformation - - - Preferential parent - - - - - - 98523 - Non-syndromic pontocerebellar hypoplasia - - - Preferential parent - - - - - - 98553 - Developmental defect of the eye - - - Preferential parent - - - - - - 98555 - Microphthalmia-anophthalmia-coloboma - - - Preferential parent - - - - - - 98557 - Syndromic aniridia - - - Preferential parent - - - - - - 98560 - Rare palpebral disorder - - - Preferential parent - - - - - - 98561 - Congenital malformation of the eyelid - - - Preferential parent - - - - - - 98562 - Cryptophthalmia - - - Preferential parent - - - - - - 98563 - Microblepharon-ablephara syndrome - - - Preferential parent - - - - - - 98564 - Eyelid border anomaly - - - Preferential parent - - - - - - 98565 - Syndromic ankyloblepharon filiforme adnatum - - - Preferential parent - - - - - - 98566 - Syndromic eyelid coloboma - - - Preferential parent - - - - - - 98567 - Rare eyelid malposition disorder - - - Preferential parent - - - - - - 98570 - Congenital ectropion - - - Preferential parent - - - - - - 98574 - Syndromic epicanthus - - - Preferential parent - - - - - - 98575 - Syndromic telecanthus - - - Preferential parent - - - - - - 98576 - Syndromic outer canthal malposition - - - Preferential parent - - - - - - 98594 - Rare eyebrow/eyelash disorder - - - Preferential parent - - - - - - 98609 - EEC syndrome and related disorders - - - Preferential parent - - - - - - 98631 - Congenital malformation of the eye with glaucoma as a major feature - - - Preferential parent - - - - - - 98634 - Anterior segment developmental anomaly without extraocular manifestations - - - Preferential parent - - - - - - 98635 - Corneodysgenesis - - - Preferential parent - - - - - - 98652 - Lens size anomaly - - - Preferential parent - - - - - - 98655 - Lens shape anomaly - - - Preferential parent - - - - - - 98716 - Heart position anomaly - - - Preferential parent - - - - - - 98717 - Transposition of the great arteries and conotruncal cardiac anomaly - - - Preferential parent - - - - - - 98718 - Aortic malformation - - - Preferential parent - - - - - - 98719 - Pulmonary artery or pulmonary branch anomaly - - - Preferential parent - - - - - - 98720 - Atrioventricular valve anomaly - - - Preferential parent - - - - - - 98721 - Congenital tricuspid malformation - - - Preferential parent - - - - - - 98722 - Atrioventricular septal defect - - - Preferential parent - - - - - - 98723 - Hypoplastic right heart syndrome - - - Preferential parent - - - - - - 98724 - Congenital anomaly of the great arteries - - - Preferential parent - - - - - - 98725 - Ascending aorta anomaly - - - Preferential parent - - - - - - 98727 - Rare atrial defect and interatrial communication - - - Preferential parent - - - - - - 98729 - Congenital pulmonary veins anomaly - - - Preferential parent - - - - - - 98731 - Congenital arteriovenous fistula - - - Preferential parent - - - - - - 98733 - Noonan syndrome and Noonan-related syndrome - - - Preferential parent - - - - - - 98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - - Preferential parent - - - - - - 98791 - Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 - - - Preferential parent - - - - - - 98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - - Preferential parent - - - - - - 98794 - Angelman syndrome due to maternal 15q11q13 deletion - - - Preferential parent - - - - - - 98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - - Preferential parent - - - - - - 98797 - Isochromosomy Yp syndrome - - - Preferential parent - - - - - - 98798 - Isochromosomy Yq syndrome - - - Preferential parent - - - - - - 98813 - Hypohidrotic ectodermal dysplasia with immunodeficiency - - - Preferential parent - - - - - - 98889 - Bilateral perisylvian polymicrogyria - - - Preferential parent - - - - - - 98890 - Early-onset X-linked optic atrophy - - - Preferential parent - - - - - - 98892 - Periventricular nodular heterotopia - - - Preferential parent - - - - - - 98938 - Colobomatous microphthalmia - - - Preferential parent - - - - - - 98942 - Coloboma of choroid and retina - - - Preferential parent - - - - - - 98943 - Coloboma of eye lens - - - Preferential parent - - - - - - 98944 - Coloboma of iris - - - Preferential parent - - - - - - 98945 - Coloboma of macula - - - Preferential parent - - - - - - 98946 - Coloboma of eyelid - - - Preferential parent - - - - - - 98947 - Coloboma of optic disc - - - Preferential parent - - - - - - 98948 - Congenital symblepharon - - - Preferential parent - - - - - - 98949 - Complete cryptophthalmia - - - Preferential parent - - - - - - 98950 - Partial cryptophthalmia - - - Preferential parent - - - - - - 98978 - Axenfeld anomaly - - - Preferential parent - - - - - - 99014 - X-linked Charcot-Marie-Tooth disease type 5 - - - Preferential parent - - - - - - 99042 - Congenitally uncorrected transposition of the great arteries with coarctation - - - Preferential parent - - - - - - 99043 - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis - - - Preferential parent - - - - - - 99045 - Double outlet right ventricle with subpulmonary ventricular septal defect - - - Preferential parent - - - - - - 99046 - Double outlet right ventricle with non-committed subpulmonary ventricular septal defect - - - Preferential parent - - - - - - 99048 - Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome - - - Preferential parent - - - - - - 99049 - Pulmonary artery coming from patent ductus arteriosus - - - Preferential parent - - - - - - 99050 - Abnormal origin of right or left pulmonary artery from the aorta - - - Preferential parent - - - - - - 99051 - Discrete fixed membranous subaortic stenosis - - - Preferential parent - - - - - - 99052 - Discrete fibromuscular subaortic stenosis - - - Preferential parent - - - - - - 99053 - Tunnel subaortic stenosis - - - Preferential parent - - - - - - 99054 - Valvular pulmonary stenosis - - - Preferential parent - - - - - - 99055 - Congenital anomaly of the tricuspid valve chordae - - - Preferential parent - - - - - - 99056 - Parachute tricuspid valve - - - Preferential parent - - - - - - 99057 - Congenital mitral stenosis - - - Preferential parent - - - - - - 99058 - Hypoplasia of the mitral valve annulus - - - Preferential parent - - - - - - 99059 - Congenital supravalvular mitral ring - - - Preferential parent - - - - - - 99060 - Congenital unguarded mitral orifice - - - Preferential parent - - - - - - 99061 - Accessory mitral valve tissue - - - Preferential parent - - - - - - 99062 - Mitral valve agenesis - - - Preferential parent - - - - - - 99063 - Shone complex - - - Preferential parent - - - - - - 99064 - Straddling and/or overriding mitral valve - - - Preferential parent - - - - - - 99067 - Complete atrioventricular septal defect with ventricular hypoplasia - - - Preferential parent - - - - - - 99068 - Complete atrioventricular septal defect-tetralogy of Fallot - - - Preferential parent - - - - - - 99070 - Aorto-right ventricular tunnel - - - Preferential parent - - - - - - 99071 - Aorto-left ventricular tunnel - - - Preferential parent - - - - - - 99072 - Congenital patent ductus arteriosus aneurysm - - - Preferential parent - - - - - - 99075 - Encircling double aortic arch - - - Preferential parent - - - - - - 99076 - Persistent fifth aortic arch - - - Preferential parent - - - - - - 99077 - Kommerell diverticulum - - - Preferential parent - - - - - - 99078 - Neuhauser anomaly - - - Preferential parent - - - - - - 99079 - Cervical aortic arch - - - Preferential parent - - - - - - 99081 - Right aortic arch - - - Preferential parent - - - - - - 99082 - Dysphagia lusoria - - - Preferential parent - - - - - - 99083 - Pulmonary artery hypoplasia - - - Preferential parent - - - - - - 99084 - Peripheral pulmonary stenosis - - - Preferential parent - - - - - - 99087 - Coronary ostial stenosis or atresia - - - Preferential parent - - - - - - 99089 - Abnormal number of coronary ostia - - - Preferential parent - - - - - - 99090 - Malposition of a coronary ostium - - - Preferential parent - - - - - - 99092 - Interventricular septum aneurysm - - - Preferential parent - - - - - - 99094 - Laubry-Pezzi syndrome - - - Preferential parent - - - - - - 99095 - Congenital Gerbode defect - - - Preferential parent - - - - - - 99098 - Cor triatriatum dexter - - - Preferential parent - - - - - - 99099 - Cor triatriatum sinister - - - Preferential parent - - - - - - 99100 - Juxtaposition of the atrial appendages - - - Preferential parent - - - - - - 99101 - Ectasia of the right atrial appendage - - - Preferential parent - - - - - - 99102 - Ectasia of the left atrial appendage - - - Preferential parent - - - - - - 99103 - Atrial septal defect, ostium secundum type - - - Preferential parent - - - - - - 99104 - Atrial septal defect, coronary sinus type - - - Preferential parent - - - - - - 99105 - Atrial septal defect, sinus venosus type - - - Preferential parent - - - - - - 99106 - Atrial septal defect, ostium primum type - - - Preferential parent - - - - - - 99107 - Atrial septal aneurysm - - - Preferential parent - - - - - - 99109 - Persistent left superior vena cava connecting through coronary sinus to left-sided atrium - - - Preferential parent - - - - - - 99110 - Right superior vena cava connecting to left-sided atrium - - - Preferential parent - - - - - - 99111 - Persistent left superior vena cava connecting to the roof of left-sided atrium - - - Preferential parent - - - - - - 99112 - Absence of innominate vein - - - Preferential parent - - - - - - 99113 - Subaortic course of innominate vein - - - Preferential parent - - - - - - 99114 - Agenesis of the superior vena cava - - - Preferential parent - - - - - - 99117 - Coronary sinus stenosis - - - Preferential parent - - - - - - 99118 - Coronary sinus atresia - - - Preferential parent - - - - - - 99119 - Right inferior vena cava connecting to left-sided atrium - - - Preferential parent - - - - - - 99120 - Persistent eustachian valve - - - Preferential parent - - - - - - 99121 - Azygos continuation of the inferior vena cava - - - Preferential parent - - - - - - 99122 - Congenital stenosis of the inferior vena cava - - - Preferential parent - - - - - - 99123 - Inferior vena cava interruption without azygos continuation - - - Preferential parent - - - - - - 99124 - Congenital partial pulmonary venous return anomaly - - - Preferential parent - - - - - - 99125 - Congenital total pulmonary venous return anomaly - - - Preferential parent - - - - - - 99126 - Congenital pulmonary vein atresia - - - Preferential parent - - - - - - 99129 - Congenital complete agenesis of pericardium - - - Preferential parent - - - - - - 99130 - Congenital partial agenesis of pericardium - - - Preferential parent - - - - - - 99131 - Pleuro-pericardial cyst - - - Preferential parent - - - - - - 99141 - Lymphedema-posterior choanal atresia syndrome - - - Preferential parent - - - - - - 99177 - Isolated distichiasis - - - Preferential parent - - - - - - 99226 - Monosomy X syndrome - - - Preferential parent - - - - - - 99228 - Mosaic monosomy X syndrome - - - Preferential parent - - - - - - 99324 - Paternal uniparental disomy of chromosome 13 syndrome - - - Preferential parent - - - - - - 99329 - 48,XYYY syndrome - - - Preferential parent - - - - - - 99330 - 49,XYYYY syndrome - - - Preferential parent - - - - - - 99413 - Turner syndrome due to structural X chromosome anomalies - - - Preferential parent - - - - - - 99429 - Complete androgen insensitivity syndrome - - - Preferential parent - - - - - - 99672 - Fried's tooth and nail syndrome - - - Preferential parent - - - - - - 99688 - Dermotrichic syndrome - - - Preferential parent - - - - - - 99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - - Preferential parent - - - - - - 99741 - King-Denborough syndrome - - - Preferential parent - - - - - - 99742 - Amish lethal microcephaly - - - Preferential parent - - - - - - 99771 - Bifid uvula - - - Preferential parent - - - - - - 99772 - Cleft velum - - - Preferential parent - - - - - - 99776 - Mosaic trisomy 9 syndrome - - - Preferential parent - - - - - - 99796 - Subcortical band heterotopia - - - Preferential parent - - - - - - 99802 - Hemimegalencephaly - - - Preferential parent - - - - - - 99806 - Oculootodental syndrome - - - Preferential parent - - - - - - 99810 - Familial porencephaly - - - Preferential parent - - - - - - 99856 - Primary syringomyelia - - - Preferential parent - - - - - - 100011 - Lissencephaly with cerebellar hypoplasia type A - - - Preferential parent - - - - - - 100012 - Lissencephaly with cerebellar hypoplasia type B - - - Preferential parent - - - - - - 100013 - Lissencephaly with cerebellar hypoplasia type C - - - Preferential parent - - - - - - 100014 - Lissencephaly with cerebellar hypoplasia type D - - - Preferential parent - - - - - - 100015 - Lissencephaly with cerebellar hypoplasia type E - - - Preferential parent - - - - - - 100016 - Lissencephaly with cerebellar hypoplasia type F - - - Preferential parent - - - - - - 100047 - Isolated esophageal duplication cyst - - - Preferential parent - - - - - - 100048 - Isolated tubular duplication of the esophagus - - - Preferential parent - - - - - - 100071 - Mosaic trisomy 3 syndrome - - - Preferential parent - - - - - - 100973 - FRAXE intellectual disability - - - Preferential parent - - - - - - 100974 - FRAXF syndrome - - - Preferential parent - - - - - - 100978 - Cloverleaf skull-asphyxiating thoracic dysplasia syndrome - - - Preferential parent - - - - - - 101023 - Cleft hard palate - - - Preferential parent - - - - - - 101029 - Sub-cortical nodular heterotopia - - - Preferential parent - - - - - - 101030 - Subependymal nodular heterotopia - - - Preferential parent - - - - - - 101039 - Female restricted epilepsy with intellectual disability - - - Preferential parent - - - - - - 101043 - Congenital aortic valve dysplasia - - - Preferential parent - - - - - - 101063 - Situs inversus totalis - - - Preferential parent - - - - - - 101070 - Bilateral frontoparietal polymicrogyria - - - Preferential parent - - - - - - 101071 - Unilateral hemispheric polymicrogyria - - - Preferential parent - - - - - - 101206 - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome - - - Preferential parent - - - - - - 101351 - Familial isolated congenital asplenia - - - Preferential parent - - - - - - 101932 - Anomaly of the mitral subvalvular apparatus - - - Preferential parent - - - - - - 102009 - Classic lissencephaly - - - Preferential parent - - - - - - 102010 - Other syndrome with lissencephaly as a major feature - - - Preferential parent - - - - - - 102011 - Lissencephaly type 3 - - - Preferential parent - - - - - - 102020 - Autosomal monosomy syndrome - - - Preferential parent - - - - - - 102283 - Multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - - Preferential parent - - - - - - 102285 - Multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - - Preferential parent - - - - - - 108959 - Non-syndromic esophageal malformation - - - Preferential parent - - - - - - 108961 - Syndromic esophageal malformation - - - Preferential parent - - - - - - 108963 - Non-syndromic gastroduodenal malformation - - - Preferential parent - - - - - - 108965 - Syndromic gastroduodenal malformation - - - Preferential parent - - - - - - 108967 - Non-syndromic intestinal malformation - - - Preferential parent - - - - - - 108969 - Syndromic intestinal malformation - - - Preferential parent - - - - - - 108971 - Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen - - - Preferential parent - - - - - - 108973 - Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen - - - Preferential parent - - - - - - 108977 - Non-syndromic diaphragmatic or abdominal wall malformation - - - Preferential parent - - - - - - 108979 - Syndromic diaphragmatic or abdominal wall malformation - - - Preferential parent - - - - - - 108989 - Non-syndromic central nervous system malformation - - - Preferential parent - - - - - - 108991 - Syndrome with a central nervous system malformation as a major feature - - - Preferential parent - - - - - - 108993 - Non-syndromic respiratory or mediastinal malformation - - - Preferential parent - - - - - - 108995 - Syndromic respiratory or mediastinal malformation - - - Preferential parent - - - - - - 109007 - Arthrogryposis syndrome - - - Preferential parent - - - - - - 109009 - Syndrome with limb malformations as a major feature - - - Preferential parent - - - - - - 109011 - Non-syndromic limb malformation - - - Preferential parent - - - - - - 117573 - Syndromic anorectal malformation - - - Preferential parent - - - - - - 137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - - Preferential parent - - - - - - 137622 - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - - Preferential parent - - - - - - 137628 - Cardiac anomalies-heterotaxy syndrome - - - Preferential parent - - - - - - 137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - - Preferential parent - - - - - - 137667 - Capillary malformation-arteriovenous malformation - - - Preferential parent - - - - - - 137776 - Lethal congenital contracture syndrome type 2 - - - Preferential parent - - - - - - 137783 - Lethal congenital contracture syndrome type 3 - - - Preferential parent - - - - - - 137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - - Preferential parent - - - - - - 137888 - Auriculocondylar syndrome - - - Preferential parent - - - - - - 137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - - Preferential parent - - - - - - 137914 - Choanal atresia - - - Preferential parent - - - - - - 137917 - Choanal atresia, unilateral - - - Preferential parent - - - - - - 137920 - Choanal atresia, bilateral - - - Preferential parent - - - - - - 137926 - Primary laryngeal lymphangioma - - - Preferential parent - - - - - - 137935 - Airway infantile hemangioma - - - Preferential parent - - - - - - 138041 - Pierre Robin syndrome associated with collagen disease - - - Preferential parent - - - - - - 138044 - Rare disease with Pierre Robin syndrome - - - Preferential parent - - - - - - 138047 - Pierre Robin syndrome associated with a chromosomal anomaly - - - Preferential parent - - - - - - 138050 - Pierre Robin syndrome associated with branchial archs anomalies - - - Preferential parent - - - - - - 138055 - Pierre Robin syndrome associated with bone disease - - - Preferential parent - - - - - - 138059 - Teratogenic Pierre Robin syndrome - - - Preferential parent - - - - - - 139009 - Developmental anomaly of metabolic origin - - - Preferential parent - - - - - - 139012 - Rare bone development disorder - - - Preferential parent - - - - - - 139021 - Malformation syndrome with short stature - - - Preferential parent - - - - - - 139024 - Overgrowth/obesity syndrome - - - Preferential parent - - - - - - 139027 - Rare developmental defect with skin/mucosae involvement - - - Preferential parent - - - - - - 139030 - Rare developmental defect with connective tissue involvement - - - Preferential parent - - - - - - 139033 - Progeroid syndrome - - - Preferential parent - - - - - - 139036 - Branchial arch or oral-acral syndrome - - - Preferential parent - - - - - - 139039 - Orofacial clefting syndrome - - - Preferential parent - - - - - - 139042 - Malformation syndrome with odontal and/or periodontal component - - - Preferential parent - - - - - - 139390 - Non-syndromic craniosynostosis - - - Preferential parent - - - - - - 139393 - Syndromic craniosynostosis - - - Preferential parent - - - - - - 139450 - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - - - Preferential parent - - - - - - 139466 - SERKAL syndrome - - - Preferential parent - - - - - - 139471 - Microphthalmia with brain and digit anomalies - - - Preferential parent - - - - - - 139474 - 17q11.2 microduplication syndrome - - - Preferential parent - - - - - - 140436 - Primary intraosseous venous malformation - - - Preferential parent - - - - - - 140874 - Joubert syndrome and related disorders - - - Preferential parent - - - - - - 140908 - Brachydactyly type B2 - - - Preferential parent - - - - - - 140917 - Stapes ankylosis with broad thumbs and toes - - - Preferential parent - - - - - - 140936 - Lelis syndrome - - - Preferential parent - - - - - - 140944 - CLOVES syndrome - - - Preferential parent - - - - - - 140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - - Preferential parent - - - - - - 140963 - Bilateral microtia-deafness-cleft palate syndrome - - - Preferential parent - - - - - - 140976 - RHYNS syndrome - - - Preferential parent - - - - - - 140997 - Orofaciodigital syndrome - - - Preferential parent - - - - - - 141000 - Orofaciodigital syndrome type 11 - - - Preferential parent - - - - - - 141007 - Orofaciodigital syndrome type 9 - - - Preferential parent - - - - - - 141013 - First branchial cleft anomaly - - - Preferential parent - - - - - - 141022 - Second branchial cleft anomaly - - - Preferential parent - - - - - - 141030 - Third branchial cleft anomaly - - - Preferential parent - - - - - - 141037 - Fourth branchial cleft anomaly - - - Preferential parent - - - - - - 141061 - Commissural lip fistula - - - Preferential parent - - - - - - 141064 - Isolated lower lip fistula - - - Preferential parent - - - - - - 141074 - External auditory canal aplasia/hypoplasia - - - Preferential parent - - - - - - 141077 - Epignathus - - - Preferential parent - - - - - - 141083 - Nasolacrimal duct cyst - - - Preferential parent - - - - - - 141091 - Polyrrhinia - - - Preferential parent - - - - - - 141096 - Supernumerary nostril - - - Preferential parent - - - - - - 141099 - Proboscis lateralis - - - Preferential parent - - - - - - 141118 - Nasal encephalocele - - - Preferential parent - - - - - - 141132 - Oculo-auriculo-vertebral spectrum - - - Preferential parent - - - - - - 141145 - Hemifacial hyperplasia - - - Preferential parent - - - - - - 141148 - Hemifacial myohyperplasia - - - Preferential parent - - - - - - 141152 - Isolated congenital hypoglossia/aglossia - - - Preferential parent - - - - - - 141163 - Glossopalatine ankylosis - - - Preferential parent - - - - - - 141168 - Frontonasal arteriovenous malformation - - - Preferential parent - - - - - - 141171 - Maxillary arteriovenous malformation - - - Preferential parent - - - - - - 141174 - Mandibular arteriovenous malformation - - - Preferential parent - - - - - - 141179 - Non-involuting congenital hemangioma - - - Preferential parent - - - - - - 141184 - Rapidly involuting congenital hemangioma - - - Preferential parent - - - - - - 141189 - Cerebrofacial arteriovenous metameric syndrome - - - Preferential parent - - - - - - 141194 - Cerebrofacial arteriovenous metameric syndrome type 1 - - - Preferential parent - - - - - - 141199 - Cerebrofacial arteriovenous metameric syndrome type 3 - - - Preferential parent - - - - - - 141209 - Diffuse lymphatic malformation - - - Preferential parent - - - - - - 141214 - Isolated congenital syngnathia - - - Preferential parent - - - - - - 141219 - Nasal dorsum fistula - - - Preferential parent - - - - - - 141229 - Facial cleft - - - Preferential parent - - - - - - 141234 - Median facial cleft - - - Preferential parent - - - - - - 141239 - Median cleft of the upper lip and maxilla - - - Preferential parent - - - - - - 141242 - Paramedian nasal cleft - - - Preferential parent - - - - - - 141253 - Oblique facial cleft - - - Preferential parent - - - - - - 141258 - Tessier number 4 facial cleft - - - Preferential parent - - - - - - 141261 - Tessier number 5 facial cleft - - - Preferential parent - - - - - - 141265 - Tessier number 6 facial cleft - - - Preferential parent - - - - - - 141269 - Lateral facial cleft - - - Preferential parent - - - - - - 141276 - Tessier number 7 facial cleft - - - Preferential parent - - - - - - 141288 - Midline cervical cleft - - - Preferential parent - - - - - - 141291 - Cleft lip and alveolus - - - Preferential parent - - - - - - 141333 - Biemond syndrome type 2 - - - Preferential parent - - - - - - 155832 - Rare head and neck malformation - - - Preferential parent - - - - - - 155835 - Cysts and fistulae of the face and oral cavity - - - Preferential parent - - - - - - 155838 - Pinnae fistula or cyst - - - Preferential parent - - - - - - 155867 - Paramedian facial cleft - - - Preferential parent - - - - - - 155878 - Submucosal cleft palate - - - Preferential parent - - - - - - 155884 - Coloboma of superior eyelid - - - Preferential parent - - - - - - 155889 - Coloboma of inferior eyelid - - - Preferential parent - - - - - - 155896 - Otomandibular dysplasia - - - Preferential parent - - - - - - 155899 - Mandibulofacial dysostosis - - - Preferential parent - - - - - - 156202 - Otomandibular dysplasia associated with monogenic syndromes - - - Preferential parent - - - - - - 156207 - Macroglossia - - - Preferential parent - - - - - - 156212 - Hypoglossia/aglossia - - - Preferential parent - - - - - - 156215 - Oromandibular-limb anomalies syndrome - - - Preferential parent - - - - - - 156224 - Paralytic facial malformation - - - Preferential parent - - - - - - 156230 - Facial arteriovenous malformation - - - Preferential parent - - - - - - 156237 - Syndrome or malformation associated with head and neck malformations - - - Preferential parent - - - - - - 156243 - Pinnae and external auditory canal anomaly - - - Preferential parent - - - - - - 156246 - Nose and cavum anomaly - - - Preferential parent - - - - - - 156249 - Larynx anomaly - - - Preferential parent - - - - - - 156252 - Tracheal anomaly - - - Preferential parent - - - - - - 156532 - Rare syndrome with cardiac malformations - - - Preferential parent - - - - - - 156622 - Genetic urogenital tract malformation - - - Preferential parent - - - - - - 157769 - Situs ambiguus - - - Preferential parent - - - - - - 157791 - Epithelioid hemangioendothelioma - - - Preferential parent - - - - - - 157801 - Mesoaxial synostotic syndactyly with phalangeal reduction - - - Preferential parent - - - - - - 157808 - Isolated pseudoarthrosis of the limbs - - - Preferential parent - - - - - - 157832 - Craniorhiny - - - Preferential parent - - - - - - 157954 - ANE syndrome - - - Preferential parent - - - - - - 162516 - Isolated congenital nasal pyriform aperture stenosis - - - Preferential parent - - - - - - 163209 - Non-syndromic cerebral malformation due to abnormal neuronal migration - - - Preferential parent - - - - - - 163721 - Rolandic epilepsy-speech dyspraxia syndrome - - - Preferential parent - - - - - - 163937 - X-linked intellectual disability, Najm type - - - Preferential parent - - - - - - 163956 - X-linked intellectual disability, Nascimento type - - - Preferential parent - - - - - - 163961 - X-linked cerebral-cerebellar-coloboma syndrome - - - Preferential parent - - - - - - 163971 - X-linked intellectual disability, Cilliers type - - - Preferential parent - - - - - - 163976 - X-linked intellectual disability, Van Esch type - - - Preferential parent - - - - - - 163979 - X-linked intellectual disability-craniofacioskeletal syndrome - - - Preferential parent - - - - - - 163985 - Hyperekplexia-epilepsy syndrome - - - Preferential parent - - - - - - 164004 - Middle and/or inner ear anomaly - - - Preferential parent - - - - - - 165704 - Non-syndromic urogenital tract malformation - - - Preferential parent - - - - - - 165707 - Syndromic urogenital tract malformation - - - Preferential parent - - - - - - 166063 - Pontocerebellar hypoplasia type 4 - - - Preferential parent - - - - - - 166073 - Pontocerebellar hypoplasia type 6 - - - Preferential parent - - - - - - 166108 - Birk-Barel syndrome - - - Preferential parent - - - - - - 168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - - Preferential parent - - - - - - 168563 - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - - Preferential parent - - - - - - 168593 - Sudden infant death-dysgenesis of the testes syndrome - - - Preferential parent - - - - - - 168624 - Familial scaphocephaly syndrome, McGillivray type - - - Preferential parent - - - - - - 168796 - Heart-hand syndrome, Slovenian type - - - Preferential parent - - - - - - 168984 - CLAPO syndrome - - - Preferential parent - - - - - - 169163 - Familial scaphocephaly syndrome - - - Preferential parent - - - - - - 171220 - Isolated rectal duplication - - - Preferential parent - - - - - - 171680 - Lissencephaly due to TUBA1A mutation - - - Preferential parent - - - - - - 171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - - Preferential parent - - - - - - 171719 - Cutis laxa-Marfanoid syndrome - - - Preferential parent - - - - - - 171829 - 6q16 microdeletion syndrome - - - Preferential parent - - - - - - 171839 - Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome - - - Preferential parent - - - - - - 171844 - Blindness-scoliosis-arachnodactyly syndrome - - - Preferential parent - - - - - - 171851 - MEDNIK syndrome - - - Preferential parent - - - - - - 171929 - Trisomy 10p syndrome - - - Preferential parent - - - - - - 177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - - Preferential parent - - - - - - 177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - - Preferential parent - - - - - - 177907 - Prader-Willi syndrome due to translocation - - - Preferential parent - - - - - - 177910 - Prader-Willi syndrome due to imprinting mutation - - - Preferential parent - - - - - - 178303 - 8q22.1 microdeletion syndrome - - - Preferential parent - - - - - - 178364 - Syndromic microphthalmia type 5 - - - Preferential parent - - - - - - 178377 - Osteosclerosis-developmental delay-craniosynostosis syndrome - - - Preferential parent - - - - - - 178382 - Congenital vertical talus - - - Preferential parent - - - - - - 180062 - Uterovaginal malformation - - - Preferential parent - - - - - - 180065 - Non-syndromic uterovaginal malformation - - - Preferential parent - - - - - - 180068 - Partial bilateral aplasia of the Müllerian ducts - - - Preferential parent - - - - - - 180071 - Unilateral aplasia of the Müllerian ducts - - - Preferential parent - - - - - - 180074 - True unicornuate uterus - - - Preferential parent - - - - - - 180079 - Pseudounicornuate uterus - - - Preferential parent - - - - - - 180086 - Didelphys uterus - - - Preferential parent - - - - - - 180106 - Bicervical bicornuate uterus and blind hemivagina - - - Preferential parent - - - - - - 180111 - Bicervical bicornuate uterus with patent cervix and vagina - - - Preferential parent - - - - - - 180114 - Unicervical bicornuate uterus - - - Preferential parent - - - - - - 180122 - Septate uterus - - - Preferential parent - - - - - - 180126 - Complete septate uterus - - - Preferential parent - - - - - - 180129 - Partial septate uterus - - - Preferential parent - - - - - - 180134 - Bicornuate uterus - - - Preferential parent - - - - - - 180139 - Uterine hypoplasia - - - Preferential parent - - - - - - 180142 - Absence of uterine body - - - Preferential parent - - - - - - 180145 - Uterine cervical aplasia and agenesis - - - Preferential parent - - - - - - 180148 - Syndromic uterovaginal malformation - - - Preferential parent - - - - - - 180151 - Rare vaginal malformation - - - Preferential parent - - - - - - 180154 - Septate vagina - - - Preferential parent - - - - - - 180157 - Longitudinal vaginal septum - - - Preferential parent - - - - - - 180160 - Transverse vaginal septum - - - Preferential parent - - - - - - 180163 - Rare breast malformation - - - Preferential parent - - - - - - 180170 - Excess breast volume or number - - - Preferential parent - - - - - - 180173 - Deficient breast volume or number - - - Preferential parent - - - - - - 180182 - Supernumerary breasts - - - Preferential parent - - - - - - 180188 - Isolated congenital breast hypoplasia/aplasia - - - Preferential parent - - - - - - 180193 - Syndromic breast hypoplasia/aplasia - - - Preferential parent - - - - - - 180766 - Malformative syndrome with dentinogenesis imperfecta - - - Preferential parent - - - - - - 180776 - Non-syndromic diaphragmatic or thoracic malformation - - - Preferential parent - - - - - - 180779 - Syndromic diaphragmatic or thoracic malformation - - - Preferential parent - - - - - - 182061 - Cerebellar malformation - - - Preferential parent - - - - - - 182108 - Thoracic malformation - - - Preferential parent - - - - - - 182111 - Respiratory malformation - - - Preferential parent - - - - - - 182117 - Non-syndromic urogenital tract malformation of female - - - Preferential parent - - - - - - 182121 - Non-syndromic urogenital tract malformation of male - - - Preferential parent - - - - - - 182124 - Non-syndromic urogenital tract malformation of male and female - - - Preferential parent - - - - - - 183422 - Polymalformative genetic syndrome with increased risk of developing cancer - - - Preferential parent - - - - - - 183506 - Genetic central nervous system malformation - - - Preferential parent - - - - - - 183530 - Rare genetic developmental defect during embryogenesis - - - Preferential parent - - - - - - 183533 - Genetic multiple congenital anomalies/dysmorphic syndrome - - - Preferential parent - - - - - - 183536 - Genetic congenital limb malformation - - - Preferential parent - - - - - - 183539 - Genetic renal or urinary tract malformation - - - Preferential parent - - - - - - 183542 - Genetic cranial malformation - - - Preferential parent - - - - - - 183545 - Genetic digestive tract malformation - - - Preferential parent - - - - - - 183548 - Genetic visceral malformation of the liver, biliary tract, pancreas or spleen - - - Preferential parent - - - - - - 183554 - Genetic respiratory or mediastinal malformation - - - Preferential parent - - - - - - 183557 - Genetic developmental defect of the eye - - - Preferential parent - - - - - - 183570 - Genetic malformation syndrome with short stature - - - Preferential parent - - - - - - 183573 - Genetic overgrowth/obesity syndrome - - - Preferential parent - - - - - - 183576 - Genetic branchial arch or oral-acral syndrome - - - Preferential parent - - - - - - 183580 - Genetic malformation syndrome with odontal and/or periodontal component - - - Preferential parent - - - - - - 183583 - Genetic head and neck malformation - - - Preferential parent - - - - - - 183622 - Genetic respiratory malformation - - - Preferential parent - - - - - - 199293 - Congenital microgastria - - - Preferential parent - - - - - - 199302 - Isolated cleft lip - - - Preferential parent - - - - - - 199306 - Cleft lip/palate - - - Preferential parent - - - - - - 199310 - Tetragametic chimerism syndrome - - - Preferential parent - - - - - - 199315 - Familial clubfoot with or without associated lower limb anomalies - - - Preferential parent - - - - - - 199318 - 15q13.3 microdeletion syndrome - - - Preferential parent - - - - - - 199332 - Endocrine-cerebro-osteodysplasia syndrome - - - Preferential parent - - - - - - 199630 - Isolated cerebellar vermis hypoplasia - - - Preferential parent - - - - - - 199633 - Non-syndromic cerebral malformation - - - Preferential parent - - - - - - 199639 - Syndrome with corpus callosum agenesis/dysgenesis as a major feature - - - Preferential parent - - - - - - 199647 - Isolated encephalocele - - - Preferential parent - - - - - - 202948 - Syndromic microphthalmia-anophthalmia-coloboma - - - Preferential parent - - - - - - 208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - - Preferential parent - - - - - - 208444 - Bilateral frontal polymicrogyria - - - Preferential parent - - - - - - 208447 - Bilateral generalized polymicrogyria - - - Preferential parent - - - - - - 209905 - Brain-lung-thyroid syndrome - - - Preferential parent - - - - - - 210144 - Lethal polymalformative syndrome, Boissel type - - - Preferential parent - - - - - - 210548 - Macrocephaly-intellectual disability-autism syndrome - - - Preferential parent - - - - - - 210584 - Spindle cell hemangioma - - - Preferential parent - - - - - - 210589 - Rare infantile hemangioma - - - Preferential parent - - - - - - 211240 - Genetic vascular anomaly - - - Preferential parent - - - - - - 211243 - Simple vascular malformation - - - Preferential parent - - - - - - 211247 - Rare capillary malformation - - - Preferential parent - - - - - - 211252 - Rare venous malformation - - - Preferential parent - - - - - - 211255 - Rare lymphatic system anomaly - - - Preferential parent - - - - - - 211266 - Rare arteriovenous malformation - - - Preferential parent - - - - - - 211277 - Complex vascular malformation with associated anomalies - - - Preferential parent - - - - - - 216675 - Transposition of the great arteries - - - Preferential parent - - - - - - 216694 - Congenitally corrected transposition of the great arteries - - - Preferential parent - - - - - - 216718 - Isolated congenitally uncorrected transposition of the great arteries - - - Preferential parent - - - - - - 216729 - Congenitally uncorrected transposition of the great arteries with cardiac malformation - - - Preferential parent - - - - - - 217008 - Bockenheimer syndrome - - - Preferential parent - - - - - - 217017 - Zechi-Ceide syndrome - - - Preferential parent - - - - - - 217026 - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - - - Preferential parent - - - - - - 217059 - Isolated nail clubbing - - - Preferential parent - - - - - - 217266 - BNAR syndrome - - - Preferential parent - - - - - - 217335 - RIN2 syndrome - - - Preferential parent - - - - - - 217340 - 17q21.31 microduplication syndrome - - - Preferential parent - - - - - - 217346 - 19q13.11 microdeletion syndrome - - - Preferential parent - - - - - - 217377 - Microduplication Xp11.22p11.23 syndrome - - - Preferential parent - - - - - - 217385 - 17p13.3 microduplication syndrome - - - Preferential parent - - - - - - 220386 - Semilobar holoprosencephaly - - - Preferential parent - - - - - - 220493 - Joubert syndrome with ocular defect - - - Preferential parent - - - - - - 220497 - Joubert syndrome with renal defect - - - Preferential parent - - - - - - 221008 - Rothmund-Thomson syndrome type 1 - - - Preferential parent - - - - - - 221016 - Rothmund-Thomson syndrome type 2 - - - Preferential parent - - - - - - 221054 - Acrocephalopolydactyly - - - Preferential parent - - - - - - 221061 - Familial cerebral cavernous malformation - - - Preferential parent - - - - - - 221120 - Pseudoaminopterin syndrome - - - Preferential parent - - - - - - 221126 - Fowler vasculopathy - - - Preferential parent - - - - - - 221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - - Preferential parent - - - - - - 221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - - Preferential parent - - - - - - 225147 - Sporadic infantile bilateral striatal necrosis - - - Preferential parent - - - - - - 225154 - Familial infantile bilateral striatal necrosis - - - Preferential parent - - - - - - 228184 - Heart-hand syndrome - - - Preferential parent - - - - - - 228190 - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - - - Preferential parent - - - - - - 228384 - 5q14.3 microdeletion syndrome - - - Preferential parent - - - - - - 228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - - Preferential parent - - - - - - 228399 - 8q12 microduplication syndrome - - - Preferential parent - - - - - - 228402 - 2q23.1 microdeletion syndrome - - - Preferential parent - - - - - - 228410 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome - - - Preferential parent - - - - - - 228415 - 5q35 microduplication syndrome - - - Preferential parent - - - - - - 228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - - Preferential parent - - - - - - 231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - - Preferential parent - - - - - - 231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - - Preferential parent - - - - - - 231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - - Preferential parent - - - - - - 231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - - Preferential parent - - - - - - 231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - - Preferential parent - - - - - - 231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - - Preferential parent - - - - - - 231144 - Silver-Russell syndrome due to 11p15 microduplication - - - Preferential parent - - - - - - 231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - - Preferential parent - - - - - - 231169 - Usher syndrome type 1 - - - Preferential parent - - - - - - 231178 - Usher syndrome type 2 - - - Preferential parent - - - - - - 231183 - Usher syndrome type 3 - - - Preferential parent - - - - - - 231742 - Epibulbar lipodermoid-preauricular appendage-polythelia syndrome - - - Preferential parent - - - - - - 232035 - Infectious embryofetopathy - - - Preferential parent - - - - - - 238446 - 15q11q13 microduplication syndrome - - - Preferential parent - - - - - - 238468 - Hypohidrotic ectodermal dysplasia - - - Preferential parent - - - - - - 238578 - Familial clubfoot due to 17q23.1q23.2 microduplication - - - Preferential parent - - - - - - 238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - - Preferential parent - - - - - - 238744 - Mammary-digital-nail syndrome - - - Preferential parent - - - - - - 238750 - 4q21 microdeletion syndrome - - - Preferential parent - - - - - - 238769 - 1q44 microdeletion syndrome - - - Preferential parent - - - - - - 240760 - Nijmegen breakage syndrome-like disorder - - - Preferential parent - - - - - - 244283 - Biliary atresia with splenic malformation syndrome - - - Preferential parent - - - - - - 247262 - Hyperphosphatasia-intellectual disability syndrome - - - Preferential parent - - - - - - 247768 - Müllerian aplasia and hyperandrogenism - - - Preferential parent - - - - - - 247775 - Mayer-Rokitansky-Küster-Hauser syndrome type 1 - - - Preferential parent - - - - - - 247820 - Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome - - - Preferential parent - - - - - - 247827 - Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome - - - Preferential parent - - - - - - 250923 - Isolated aniridia - - - Preferential parent - - - - - - 250972 - Polymicrogyria with optic nerve hypoplasia - - - Preferential parent - - - - - - 250989 - 1q21.1 microdeletion syndrome - - - Preferential parent - - - - - - 250994 - 1q21.1 microduplication syndrome - - - Preferential parent - - - - - - 250999 - 1q41q42 microdeletion syndrome - - - Preferential parent - - - - - - 251004 - Paternal uniparental disomy of chromosome 1 syndrome - - - Preferential parent - - - - - - 251009 - Maternal uniparental disomy of chromosome 1 syndrome - - - Preferential parent - - - - - - 251014 - 2q31.1 microdeletion syndrome - - - Preferential parent - - - - - - 251019 - 2q32q33 deletion syndrome - - - Preferential parent - - - - - - 251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - - Preferential parent - - - - - - 251038 - 3q29 microduplication syndrome - - - Preferential parent - - - - - - 251043 - Ring chromosome 5 syndrome - - - Preferential parent - - - - - - 251046 - 6p22 microdeletion syndrome - - - Preferential parent - - - - - - 251056 - 6q25.2q25.3 microdeletion syndrome - - - Preferential parent - - - - - - 251061 - 7q31 microdeletion syndrome - - - Preferential parent - - - - - - 251066 - 8p11.2 deletion syndrome - - - Preferential parent - - - - - - 251071 - 8p23.1 microdeletion syndrome - - - Preferential parent - - - - - - 251076 - 8p23.1 duplication syndrome - - - Preferential parent - - - - - - 251383 - CK syndrome - - - Preferential parent - - - - - - 251510 - 46,XY partial gonadal dysgenesis - - - Preferential parent - - - - - - 251515 - Distal arthrogryposis type 10 - - - Preferential parent - - - - - - 251529 - Toxic or drug-related embryofetopathy - - - Preferential parent - - - - - - 251535 - Maternal disease-related embryofetopathy - - - Preferential parent - - - - - - 254346 - 19p13.12 microdeletion syndrome - - - Preferential parent - - - - - - 254351 - Distal 7q11.23 microdeletion syndrome - - - Preferential parent - - - - - - 254516 - Temple syndrome - - - Preferential parent - - - - - - 254519 - Kagami-Ogata syndrome - - - Preferential parent - - - - - - 254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - - Preferential parent - - - - - - 254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - - Preferential parent - - - - - - 254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - - Preferential parent - - - - - - 254534 - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - - Preferential parent - - - - - - 261102 - Distal 7q11.23 microduplication syndrome - - - Preferential parent - - - - - - 261112 - Monosomy 9p syndrome - - - Preferential parent - - - - - - 261120 - 14q11.2 microdeletion syndrome - - - Preferential parent - - - - - - 261183 - 15q11.2 microdeletion syndrome - - - Preferential parent - - - - - - 261190 - Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - - - Preferential parent - - - - - - 261197 - Proximal 16p11.2 microdeletion syndrome - - - Preferential parent - - - - - - 261204 - 16p11.2p12.2 microduplication syndrome - - - Preferential parent - - - - - - 261211 - 16p11.2p12.2 microdeletion syndrome - - - Preferential parent - - - - - - 261222 - Distal 16p11.2 microdeletion syndrome - - - Preferential parent - - - - - - 261229 - 14q11.2 microduplication syndrome - - - Preferential parent - - - - - - 261236 - 16p13.11 microdeletion syndrome - - - Preferential parent - - - - - - 261243 - 16p13.11 microduplication syndrome - - - Preferential parent - - - - - - 261250 - 16q24.3 microdeletion syndrome - - - Preferential parent - - - - - - 261257 - Distal 17p13.3 microdeletion syndrome - - - Preferential parent - - - - - - 261265 - 17q12 microdeletion syndrome - - - Preferential parent - - - - - - 261272 - 17q12 microduplication syndrome - - - Preferential parent - - - - - - 261279 - 17q23.1q23.2 microdeletion syndrome - - - Preferential parent - - - - - - 261290 - Trisomy 17p syndrome - - - Preferential parent - - - - - - 261295 - 20p12.3 microdeletion syndrome - - - Preferential parent - - - - - - 261304 - Paternal 20q13.2q13.3 microdeletion syndrome - - - Preferential parent - - - - - - 261311 - 20q13.33 microdeletion syndrome - - - Preferential parent - - - - - - 261318 - Trisomy 20p syndrome - - - Preferential parent - - - - - - 261323 - 21q22.11q22.12 microdeletion syndrome - - - Preferential parent - - - - - - 261330 - Distal 22q11.2 microdeletion syndrome - - - Preferential parent - - - - - - 261337 - Distal 22q11.2 microduplication syndrome - - - Preferential parent - - - - - - 261344 - Trisomy 1q syndrome - - - Preferential parent - - - - - - 261349 - 2p15p16.1 microdeletion syndrome - - - Preferential parent - - - - - - 261476 - Xp21 deletion syndrome - - - Preferential parent - - - - - - 261483 - Xq27.3q28 duplication syndrome - - - Preferential parent - - - - - - 261494 - Kleefstra syndrome - - - Preferential parent - - - - - - 261501 - Atypical Norrie disease due to Xp11.3 microdeletion - - - Preferential parent - - - - - - 261519 - Maternal uniparental disomy of chromosome X syndrome - - - Preferential parent - - - - - - 261524 - Paternal uniparental disomy of chromosome X syndrome - - - Preferential parent - - - - - - 261529 - Ring chromosome Y syndrome - - - Preferential parent - - - - - - 261534 - 49,XXXYY syndrome - - - Preferential parent - - - - - - 261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - - Preferential parent - - - - - - 261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - - Preferential parent - - - - - - 261600 - Alagille syndrome due to 20p12 microdeletion - - - Preferential parent - - - - - - 261619 - Alagille syndrome due to a JAG1 point mutation - - - Preferential parent - - - - - - 261629 - Alagille syndrome due to a NOTCH2 point mutation - - - Preferential parent - - - - - - 261638 - Okihiro syndrome due to 20q13 microdeletion - - - Preferential parent - - - - - - 261647 - Okihiro syndrome due to a point mutation - - - Preferential parent - - - - - - 261652 - Kleefstra syndrome due to a point mutation - - - Preferential parent - - - - - - 261766 - Partial deletion of chromosome 1 syndrome - - - Preferential parent - - - - - - 261771 - Partial deletion of chromosome 2 syndrome - - - Preferential parent - - - - - - 261776 - Partial deletion of chromosome 3 syndrome - - - Preferential parent - - - - - - 261781 - Partial deletion of chromosome 4 syndrome - - - Preferential parent - - - - - - 261786 - Partial deletion of chromosome 5 syndrome - - - Preferential parent - - - - - - 261791 - Partial deletion of chromosome 6 syndrome - - - Preferential parent - - - - - - 261796 - Partial deletion of chromosome 7 syndrome - - - Preferential parent - - - - - - 261801 - Partial deletion of chromosome 8 syndrome - - - Preferential parent - - - - - - 261806 - Partial deletion of chromosome 9 syndrome - - - Preferential parent - - - - - - 261811 - Partial deletion of chromosome 10 syndrome - - - Preferential parent - - - - - - 261816 - Partial deletion of chromosome 11 syndrome - - - Preferential parent - - - - - - 261821 - Partial deletion of the long arm of chromosome 12 syndrome - - - Preferential parent - - - - - - 261826 - Partial deletion of chromosome 16 syndrome - - - Preferential parent - - - - - - 261831 - Partial deletion of chromosome 17 syndrome - - - Preferential parent - - - - - - 261836 - Partial deletion of chromosome 18 syndrome - - - Preferential parent - - - - - - 261841 - Partial deletion of chromosome 19 syndrome - - - Preferential parent - - - - - - 261846 - Partial deletion of chromosome 20 syndrome - - - Preferential parent - - - - - - 261857 - Partial deletion of the short arm of chromosome 1 syndrome - - - Preferential parent - - - - - - 261866 - Partial deletion of the short arm of chromosome 2 syndrome - - - Preferential parent - - - - - - 261875 - Partial deletion of the short arm of chromosome 3 syndrome - - - Preferential parent - - - - - - 261884 - Partial deletion of the short arm of chromosome 4 syndrome - - - Preferential parent - - - - - - 261893 - Partial deletion of the short arm of chromosome 5 syndrome - - - Preferential parent - - - - - - 261902 - Partial deletion of the short arm of chromosome 6 syndrome - - - Preferential parent - - - - - - 261911 - Partial deletion of the short arm of chromosome 7 syndrome - - - Preferential parent - - - - - - 261920 - Partial deletion of the short arm of chromosome 8 syndrome - - - Preferential parent - - - - - - 261929 - Partial deletion of the short arm of chromosome 9 syndrome - - - Preferential parent - - - - - - 261938 - Partial deletion of the short arm of chromosome 10 syndrome - - - Preferential parent - - - - - - 261947 - Partial deletion of the short arm of chromosome 11 syndrome - - - Preferential parent - - - - - - 261956 - Partial deletion of the short arm of chromosome 16 syndrome - - - Preferential parent - - - - - - 261965 - Partial deletion of the short arm of chromosome 17 syndrome - - - Preferential parent - - - - - - 261974 - Partial deletion of the short arm of chromosome 18 syndrome - - - Preferential parent - - - - - - 261983 - Partial deletion of the short arm of chromosome 19 syndrome - - - Preferential parent - - - - - - 261992 - Partial deletion of the short arm of chromosome 20 syndrome - - - Preferential parent - - - - - - 262001 - Partial deletion of the long arm of chromosome 1 syndrome - - - Preferential parent - - - - - - 262010 - Partial deletion of the long arm of chromosome 2 syndrome - - - Preferential parent - - - - - - 262019 - Partial deletion of the long arm of chromosome 3 syndrome - - - Preferential parent - - - - - - 262029 - Partial deletion of the long arm of chromosome 4 syndrome - - - Preferential parent - - - - - - 262038 - Partial deletion of the long arm of chromosome 5 syndrome - - - Preferential parent - - - - - - 262047 - Partial deletion of the long arm of chromosome 6 syndrome - - - Preferential parent - - - - - - 262056 - Partial deletion of the long arm of chromosome 7 syndrome - - - Preferential parent - - - - - - 262065 - Partial deletion of the long arm of chromosome 8 syndrome - - - Preferential parent - - - - - - 262074 - Partial deletion of the long arm of chromosome 9 syndrome - - - Preferential parent - - - - - - 262083 - Partial deletion of the long arm of chromosome 10 syndrome - - - Preferential parent - - - - - - 262092 - Partial deletion of the long arm of chromosome 11 syndrome - - - Preferential parent - - - - - - 262101 - Partial deletion of the long arm of chromosome 13 syndrome - - - Preferential parent - - - - - - 262110 - Partial deletion of the long arm of chromosome 14 syndrome - - - Preferential parent - - - - - - 262119 - Partial deletion of the long arm of chromosome 15 syndrome - - - Preferential parent - - - - - - 262128 - Partial deletion of the long arm of chromosome 16 syndrome - - - Preferential parent - - - - - - 262137 - Partial deletion of the long arm of chromosome 17 syndrome - - - Preferential parent - - - - - - 262146 - Partial deletion of the long arm of chromosome 18 syndrome - - - Preferential parent - - - - - - 262155 - Partial deletion of the long arm of chromosome 19 syndrome - - - Preferential parent - - - - - - 262164 - Partial deletion of the long arm of chromosome 20 syndrome - - - Preferential parent - - - - - - 262173 - Partial deletion of the long arm of chromosome 21 syndrome - - - Preferential parent - - - - - - 262182 - Partial deletion of the long arm of chromosome 22 syndrome - - - Preferential parent - - - - - - 262191 - Partial duplication of chromosome 1 syndrome - - - Preferential parent - - - - - - 262196 - Partial duplication of chromosome 2 syndrome - - - Preferential parent - - - - - - 262201 - Partial duplication of chromosome 3 syndrome - - - Preferential parent - - - - - - 262206 - Partial duplication of chromosome 4 syndrome - - - Preferential parent - - - - - - 262211 - Partial duplication/triplication of chromosome 5 syndrome - - - Preferential parent - - - - - - 262628 - Partial duplication of chromosome 6 syndrome - - - Preferential parent - - - - - - 262633 - Partial duplication of chromosome 7 syndrome - - - Preferential parent - - - - - - 262638 - Partial duplication of chromosome 8 syndrome - - - Preferential parent - - - - - - 262643 - Partial duplication/triplication of chromosome 9 syndrome - - - Preferential parent - - - - - - 262648 - Partial duplication of chromosome 10 syndrome - - - Preferential parent - - - - - - 262653 - Partial duplication of chromosome 11 syndrome - - - Preferential parent - - - - - - 262658 - Partial duplication/triplication of the short arm of chromosome 12 syndrome - - - Preferential parent - - - - - - 262672 - Partial duplication of chromosome 16 syndrome - - - Preferential parent - - - - - - 262677 - Partial duplication of chromosome 17 syndrome - - - Preferential parent - - - - - - 262682 - Partial duplication/triplication of chromosome 18 syndrome - - - Preferential parent - - - - - - 262687 - Partial duplication of chromosome 19 syndrome - - - Preferential parent - - - - - - 262692 - Partial duplication of chromosome 20 syndrome - - - Preferential parent - - - - - - 262698 - Partial duplication of the short arm of chromosome 2 syndrome - - - Preferential parent - - - - - - 262707 - Partial duplication of the short arm of chromosome 3 syndrome - - - Preferential parent - - - - - - 262716 - Partial duplication of the short arm of chromosome 4 syndrome - - - Preferential parent - - - - - - 262725 - Partial duplication/triplication of the short arm of chromosome 5 syndrome - - - Preferential parent - - - - - - 262740 - Partial duplication of the short arm of chromosome 6 syndrome - - - Preferential parent - - - - - - 262749 - Partial duplication of the short arm of chromosome 7 syndrome - - - Preferential parent - - - - - - 262758 - Partial duplication of the short arm of chromosome 8 syndrome - - - Preferential parent - - - - - - 262767 - Partial duplication/triplication of the short arm of chromosome 9 syndrome - - - Preferential parent - - - - - - 262776 - Partial duplication of the short arm of chromosome 10 syndrome - - - Preferential parent - - - - - - 262785 - Partial duplication of the short arm of chromosome 11 syndrome - - - Preferential parent - - - - - - 262794 - Partial duplication of the short arm of chromosome 16 syndrome - - - Preferential parent - - - - - - 262803 - Partial duplication of the short arm of chromosome 17 syndrome - - - Preferential parent - - - - - - 262812 - Partial duplication/triplication of the short arm of chromosome 18 syndrome - - - Preferential parent - - - - - - 262833 - Partial duplication of the long arm of chromosome 1 syndrome - - - Preferential parent - - - - - - 262842 - Partial duplication of the long arm of chromosome 2 syndrome - - - Preferential parent - - - - - - 262851 - Partial duplication of the long arm of chromosome 3 syndrome - - - Preferential parent - - - - - - 262860 - Partial duplication of the long arm of chromosome 4 syndrome - - - Preferential parent - - - - - - 262869 - Partial duplication of the long arm of chromosome 5 syndrome - - - Preferential parent - - - - - - 262878 - Partial duplication of the long arm of chromosome 6 syndrome - - - Preferential parent - - - - - - 262887 - Partial duplication of the long arm of chromosome 7 syndrome - - - Preferential parent - - - - - - 262896 - Partial duplication of the long arm of chromosome 8 syndrome - - - Preferential parent - - - - - - 262905 - Partial duplication of the long arm of chromosome 9 syndrome - - - Preferential parent - - - - - - 262914 - Partial duplication of the long arm of chromosome 10 syndrome - - - Preferential parent - - - - - - 262923 - Partial duplication of the long arm of chromosome 11 syndrome - - - Preferential parent - - - - - - 262932 - Partial duplication of the long arm of chromosome 13 syndrome - - - Preferential parent - - - - - - 262941 - Partial duplication of the long arm of chromosome 14 syndrome - - - Preferential parent - - - - - - 262950 - Partial duplication of the long arm of chromosome 15 syndrome - - - Preferential parent - - - - - - 262959 - Partial duplication of the long arm of chromosome 16 syndrome - - - Preferential parent - - - - - - 262968 - Partial duplication of the long arm of chromosome 17 syndrome - - - Preferential parent - - - - - - 262977 - Partial duplication of the long arm of chromosome 18 syndrome - - - Preferential parent - - - - - - 262986 - Partial duplication of the long arm of chromosome 19 syndrome - - - Preferential parent - - - - - - 262995 - Partial duplication of the long arm of chromosome 20 syndrome - - - Preferential parent - - - - - - 263004 - Partial duplication of the long arm of chromosome 22 syndrome - - - Preferential parent - - - - - - 263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - - Preferential parent - - - - - - 263708 - Complex chromosomal rearrangement syndrome - - - Preferential parent - - - - - - 263714 - X chromosome number anomaly syndrome - - - Preferential parent - - - - - - 263717 - X chromosome number anomaly with female phenotype syndrome - - - Preferential parent - - - - - - 263720 - X chromosome number anomaly with male phenotype syndrome - - - Preferential parent - - - - - - 263723 - Polysomy of X chromosome syndrome - - - Preferential parent - - - - - - 263726 - Partial deletion of chromosome X syndrome - - - Preferential parent - - - - - - 263731 - Partial deletion of the short arm of the chromosome X syndrome - - - Preferential parent - - - - - - 263746 - Y chromosome number anomaly syndrome - - - Preferential parent - - - - - - 263749 - X and Y chromosomal anomaly syndrome - - - Preferential parent - - - - - - 263756 - Partial deletion of the long arm of chromosome X syndrome - - - Preferential parent - - - - - - 263768 - Partial duplication of chromosome X syndrome - - - Preferential parent - - - - - - 263775 - Partial duplication of the short arm of chromosome X syndrome - - - Preferential parent - - - - - - 263783 - Partial duplication of the long arm of chromosome X syndrome - - - Preferential parent - - - - - - 263793 - Uniparental disomy of chromosome X syndrome - - - Preferential parent - - - - - - 264200 - 14q22q23 microdeletion syndrome - - - Preferential parent - - - - - - 264431 - Partial duplication of the short arm of chromosome 1 syndrome - - - Preferential parent - - - - - - 264450 - Trisomy 8p syndrome - - - Preferential parent - - - - - - 268249 - Mycophenolate mofetil embryopathy - - - Preferential parent - - - - - - 268261 - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - - Preferential parent - - - - - - 268357 - Neural tube closure defect - - - Preferential parent - - - - - - 268363 - Open iniencephaly - - - Preferential parent - - - - - - 268366 - Closed iniencephaly - - - Preferential parent - - - - - - 268369 - Open spinal dysraphism - - - Preferential parent - - - - - - 268744 - Spinal dysraphism with a posterior meningocele - - - Preferential parent - - - - - - 268810 - Isolated posterior meningocele - - - Preferential parent - - - - - - 268813 - Myelocystocele - - - Preferential parent - - - - - - 268817 - Cephalocele - - - Preferential parent - - - - - - 268820 - Cranial meningocele - - - Preferential parent - - - - - - 268823 - Occipital encephalocele - - - Preferential parent - - - - - - 268826 - Parietal encephalocele - - - Preferential parent - - - - - - 268829 - Basal encephalocele - - - Preferential parent - - - - - - 268843 - Malformation of the neurenteric canal, spinal cord and column - - - Preferential parent - - - - - - 268861 - Primary tethered cord syndrome - - - Preferential parent - - - - - - 268865 - Neurenteric cyst - - - Preferential parent - - - - - - 268868 - Isolated amyelia - - - Preferential parent - - - - - - 268882 - Arnold-Chiari malformation type I - - - Preferential parent - - - - - - 268926 - Midline cerebral malformation - - - Preferential parent - - - - - - 268936 - Isolated arhinencephaly - - - Preferential parent - - - - - - 268940 - Bilateral polymicrogyria - - - Preferential parent - - - - - - 268943 - Unilateral polymicrogyria - - - Preferential parent - - - - - - 268947 - Unilateral focal polymicrogyria - - - Preferential parent - - - - - - 268950 - Cerebral cortical dysplasia - - - Preferential parent - - - - - - 269190 - Encephaloclastic disorder - - - Preferential parent - - - - - - 269194 - Central nervous system cystic malformation - - - Preferential parent - - - - - - 269197 - Glioependymal/ependymal cyst - - - Preferential parent - - - - - - 269203 - Isolated cerebellar vermis agenesis - - - Preferential parent - - - - - - 269206 - Isolated total cerebellar vermis agenesis - - - Preferential parent - - - - - - 269209 - Isolated partial cerebellar vermis agenesis - - - Preferential parent - - - - - - 269212 - Isolated Dandy-Walker malformation with hydrocephalus - - - Preferential parent - - - - - - 269215 - Isolated Dandy-Walker malformation without hydrocephalus - - - Preferential parent - - - - - - 269218 - Isolated unilateral hemispheric cerebellar hypoplasia - - - Preferential parent - - - - - - 269221 - Isolated bilateral hemispheric cerebellar hypoplasia - - - Preferential parent - - - - - - 269224 - Global cerebellar malformation - - - Preferential parent - - - - - - 269229 - Pontine tegmental cap dysplasia - - - Preferential parent - - - - - - 269505 - Congenital communicating hydrocephalus - - - Preferential parent - - - - - - 269510 - Congenital non-communicating hydrocephalus - - - Preferential parent - - - - - - 269523 - Syndrome with a cerebellar malformation as a major feature - - - Preferential parent - - - - - - 269528 - Syndrome with microcephaly as a major feature - - - Preferential parent - - - - - - 269531 - Other syndrome with a central nervous system malformation as a major feature - - - Preferential parent - - - - - - 269546 - Syndrome with a Dandy-Walker malformation as a major feature - - - Preferential parent - - - - - - 269550 - Genetic non-syndromic central nervous system malformation - - - Preferential parent - - - - - - 269553 - Genetic cerebral malformation - - - Preferential parent - - - - - - 269557 - Genetic posterior fossa malformation - - - Preferential parent - - - - - - 269560 - Genetic cerebellar malformation - - - Preferential parent - - - - - - 269564 - Genetic syndrome with a central nervous system malformation as a major feature - - - Preferential parent - - - - - - 269567 - Genetic syndrome with a cerebellar malformation as a major feature - - - Preferential parent - - - - - - 269570 - Genetic syndrome with a Dandy-Walker malformation as a major feature - - - Preferential parent - - - - - - 269573 - Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature - - - Preferential parent - - - - - - 271853 - Genetic cardiac anomaly - - - Preferential parent - - - - - - 275543 - L1 syndrome - - - Preferential parent - - - - - - 276280 - Hemihyperplasia-multiple lipomatosis syndrome - - - Preferential parent - - - - - - 276413 - 10q22.3q23.3 microdeletion syndrome - - - Preferential parent - - - - - - 276422 - 10q22.3q23.3 microduplication syndrome - - - Preferential parent - - - - - - 276432 - Ogden syndrome - - - Preferential parent - - - - - - 276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - - Preferential parent - - - - - - 280195 - Septopreoptic holoprosencephaly - - - Preferential parent - - - - - - 280200 - Microform holoprosencephaly - - - Preferential parent - - - - - - 280205 - Laryngotracheoesophageal cleft type 0 - - - Preferential parent - - - - - - 280270 - Pelizaeus-Merzbacher-like disease - - - Preferential parent - - - - - - 280325 - Distal deletion 12p syndrome - - - Preferential parent - - - - - - 280384 - Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome - - - Preferential parent - - - - - - 280403 - Familial omphalocele syndrome with facial dysmorphism - - - Preferential parent - - - - - - 280558 - Warsaw breakage syndrome - - - Preferential parent - - - - - - 280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - - Preferential parent - - - - - - 280640 - Occipital pachygyria and polymicrogyria - - - Preferential parent - - - - - - 280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - - Preferential parent - - - - - - 280763 - Severe intellectual disability and progressive spastic paraplegia - - - Preferential parent - - - - - - 280802 - Intralobar congenital pulmonary sequestration - - - Preferential parent - - - - - - 280811 - Extralobar congenital pulmonary sequestration - - - Preferential parent - - - - - - 280821 - Communicating congenital bronchopulmonary-foregut malformation - - - Preferential parent - - - - - - 280827 - Congenital pulmonary airway malformation type 0 - - - Preferential parent - - - - - - 280832 - Congenital pulmonary airway malformation type 1 - - - Preferential parent - - - - - - 280840 - Congenital pulmonary airway malformation type 2 - - - Preferential parent - - - - - - 280847 - Congenital pulmonary airway malformation type 3 - - - Preferential parent - - - - - - 280854 - Congenital pulmonary airway malformation type 4 - - - Preferential parent - - - - - - 282124 - Partial deletion of chromosome 12 syndrome - - - Preferential parent - - - - - - 284149 - Craniosynostosis-dental anomalies - - - Preferential parent - - - - - - 284160 - 8q21.11 microdeletion syndrome - - - Preferential parent - - - - - - 284169 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - - Preferential parent - - - - - - 284180 - Xp22.13p22.2 duplication syndrome - - - Preferential parent - - - - - - 284339 - Pontocerebellar hypoplasia type 7 - - - Preferential parent - - - - - - 289266 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - - - Preferential parent - - - - - - 289465 - Isolated congenital adermatoglyphia - - - Preferential parent - - - - - - 289483 - Intellectual disability-alacrima-achalasia syndrome - - - Preferential parent - - - - - - 289513 - 12q15q21 microdeletion syndrome - - - Preferential parent - - - - - - 289522 - Microtriplication 11q24.1 syndrome - - - Preferential parent - - - - - - 289553 - Dysmorphism-conductive hearing loss-heart defect syndrome - - - Preferential parent - - - - - - 289825 - Late-onset primary lymphedema without systemic or visceral involvement - - - Preferential parent - - - - - - 293144 - Familial clubfoot due to 5q31 microdeletion - - - Preferential parent - - - - - - 293150 - Familial clubfoot due to PITX1 point mutation - - - Preferential parent - - - - - - 293642 - Blepharophimosis-intellectual disability syndrome - - - Preferential parent - - - - - - 293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - - Preferential parent - - - - - - 293725 - Blepharophimosis-intellectual disability syndrome, Verloes type - - - Preferential parent - - - - - - 293843 - 3MC syndrome - - - Preferential parent - - - - - - 293864 - Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome - - - Preferential parent - - - - - - 293925 - Lethal occipital encephalocele-skeletal dysplasia syndrome - - - Preferential parent - - - - - - 293939 - Distal Xq28 microduplication syndrome - - - Preferential parent - - - - - - 293948 - 1p21.3 microdeletion syndrome - - - Preferential parent - - - - - - 293958 - Hypertelorism-preauricular sinus-punctual pits-deafness syndrome - - - Preferential parent - - - - - - 293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - - Preferential parent - - - - - - 294016 - Microcephaly-capillary malformation syndrome - - - Preferential parent - - - - - - 294026 - Syndactyly-nystagmus syndrome due to 2q31.1 microduplication - - - Preferential parent - - - - - - 294060 - Multiple pterygium syndrome - - - Preferential parent - - - - - - 294415 - Renal-hepatic-pancreatic dysplasia - - - Preferential parent - - - - - - 294925 - Non-syndromic amelia - - - Preferential parent - - - - - - 294927 - Non-syndromic intercalary limb defects - - - Preferential parent - - - - - - 294944 - Congenital deformities of limbs - - - Preferential parent - - - - - - 294947 - Congenital deformities of fingers - - - Preferential parent - - - - - - 294949 - Non-syndromic joint formation defects - - - Preferential parent - - - - - - 294951 - Congenital joint dislocations - - - Preferential parent - - - - - - 294953 - Non-syndromic limb overgrowth - - - Preferential parent - - - - - - 294955 - Syndrome with limb reduction defects - - - Preferential parent - - - - - - 294957 - Dysostosis with combined reduction defects of upper and lower limbs - - - Preferential parent - - - - - - 294959 - Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy - - - Preferential parent - - - - - - 294963 - Popliteal pterygium syndrome - - - Preferential parent - - - - - - 294965 - Lethal congenital contracture syndrome - - - Preferential parent - - - - - - 294967 - Isolated amelia of upper limb - - - Preferential parent - - - - - - 294969 - Isolated amelia of lower limb - - - Preferential parent - - - - - - 294971 - Isolated tetra-amelia - - - Preferential parent - - - - - - 294973 - Isolated humeral agenesis/hypoplasia - - - Preferential parent - - - - - - 294975 - Isolated absence of upper arm and forearm with hand present - - - Preferential parent - - - - - - 294977 - Isolated absence of thigh and lower leg with foot present - - - Preferential parent - - - - - - 294979 - Isolated absence of both forearm and hand - - - Preferential parent - - - - - - 294981 - Isolated absence of both lower leg and foot - - - Preferential parent - - - - - - 294983 - Isolated acheiria - - - Preferential parent - - - - - - 294986 - Isolated apodia - - - Preferential parent - - - - - - 294988 - Isolated hypoplasia of thumb - - - Preferential parent - - - - - - 295000 - Amniotic band syndrome - - - Preferential parent - - - - - - 295002 - Isolated hyperphalangy - - - Preferential parent - - - - - - 295004 - Central polydactyly - - - Preferential parent - - - - - - 295012 - Syndactyly type 6 - - - Preferential parent - - - - - - 295014 - Familial isolated clinodactyly of fingers - - - Preferential parent - - - - - - 295016 - Camptodactyly of fingers - - - Preferential parent - - - - - - 295018 - Congenital pseudoarthrosis of the tibia - - - Preferential parent - - - - - - 295020 - Congenital pseudoarthrosis of the femur - - - Preferential parent - - - - - - 295022 - Congenital pseudoarthrosis of the fibula - - - Preferential parent - - - - - - 295024 - Congenital pseudoarthrosis of the radius - - - Preferential parent - - - - - - 295026 - Congenital pseudoarthrosis of the ulna - - - Preferential parent - - - - - - 295028 - Isolated tibio-fibular synostosis - - - Preferential parent - - - - - - 295030 - True congenital shoulder dislocation - - - Preferential parent - - - - - - 295032 - Isolated congenital radial head dislocation - - - Preferential parent - - - - - - 295034 - Congenital knee dislocation - - - Preferential parent - - - - - - 295036 - Congenital patella dislocation - - - Preferential parent - - - - - - 295044 - Macrodactyly of fingers - - - Preferential parent - - - - - - 295047 - Macrodactyly of toes - - - Preferential parent - - - - - - 295049 - Upper limb hypertrophy - - - Preferential parent - - - - - - 295051 - Lower limb hypertrophy - - - Preferential parent - - - - - - 295187 - Zygodactyly type 1 - - - Preferential parent - - - - - - 295189 - Zygodactyly type 2 - - - Preferential parent - - - - - - 295191 - Zygodactyly type 3 - - - Preferential parent - - - - - - 295193 - Zygodactyly type 4 - - - Preferential parent - - - - - - 295195 - Synpolydactyly type 1 - - - Preferential parent - - - - - - 295197 - Synpolydactyly type 2 - - - Preferential parent - - - - - - 295199 - Synpolydactyly type 3 - - - Preferential parent - - - - - - 295201 - Congenital vertical talus, unilateral - - - Preferential parent - - - - - - 295203 - Congenital vertical talus, bilateral - - - Preferential parent - - - - - - 295225 - Congenital elbow dislocation, unilateral - - - Preferential parent - - - - - - 295227 - Congenital elbow dislocation, bilateral - - - Preferential parent - - - - - - 295229 - Congenital genu recurvatum - - - Preferential parent - - - - - - 295232 - Congenital genu flexum - - - Preferential parent - - - - - - 295239 - Macrodactyly of fingers, unilateral - - - Preferential parent - - - - - - 295241 - Macrodactyly of fingers, bilateral - - - Preferential parent - - - - - - 295243 - Macrodactyly of toes, unilateral - - - Preferential parent - - - - - - 295245 - Macrodactyly of toes, bilateral - - - Preferential parent - - - - - - 300305 - 11p15.4 microduplication syndrome - - - Preferential parent - - - - - - 300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - - Preferential parent - - - - - - 300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - - Preferential parent - - - - - - 300573 - Polymicrogyria due to TUBB2B mutation - - - Preferential parent - - - - - - 300766 - Laminopathy with premature aging - - - Preferential parent - - - - - - 306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - - Preferential parent - - - - - - 306542 - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - - Preferential parent - - - - - - 306617 - X-linked complicated spastic paraplegia type 1 - - - Preferential parent - - - - - - 307766 - Curly hair-acral keratoderma-caries syndrome - - - Preferential parent - - - - - - 307936 - Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - - - Preferential parent - - - - - - 313781 - 20p13 microdeletion syndrome - - - Preferential parent - - - - - - 313795 - Jawad syndrome - - - Preferential parent - - - - - - 313884 - 12p12.1 microdeletion syndrome - - - Preferential parent - - - - - - 313892 - Developmental and speech delay due to SOX5 deficiency - - - Preferential parent - - - - - - 313947 - 2q23.1 microduplication syndrome - - - Preferential parent - - - - - - 314002 - Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome - - - Preferential parent - - - - - - 314034 - 7p22.1 microduplication syndrome - - - Preferential parent - - - - - - 314041 - Marfanoid habitus-inguinal hernia-advanced bone age syndrome - - - Preferential parent - - - - - - 314432 - Spigelian hernia-cryptorchidism syndrome - - - Preferential parent - - - - - - 314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - - Preferential parent - - - - - - 314575 - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome - - - Preferential parent - - - - - - 314585 - 15q overgrowth syndrome - - - Preferential parent - - - - - - 314588 - Distal triplication 15q syndrome - - - Preferential parent - - - - - - 314597 - Chudley-McCullough syndrome - - - Preferential parent - - - - - - 314621 - Duplication of the pituitary gland - - - Preferential parent - - - - - - 314662 - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia - - - Preferential parent - - - - - - 314679 - Cerebrofacioarticular syndrome - - - Preferential parent - - - - - - 314697 - Acquired porencephaly - - - Preferential parent - - - - - - 315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - - Preferential parent - - - - - - 315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - - Preferential parent - - - - - - 316244 - Partial deletion of the short arm of chromosome 12 syndrome - - - Preferential parent - - - - - - 319171 - Distal 17p13.1 microdeletion syndrome - - - Preferential parent - - - - - - 319182 - Wiedemann-Steiner syndrome - - - Preferential parent - - - - - - 319195 - Chondroectodermal dysplasia with night blindness - - - Preferential parent - - - - - - 319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - - Preferential parent - - - - - - 324313 - 9p13 microdeletion syndrome - - - Preferential parent - - - - - - 324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - - Preferential parent - - - - - - 324416 - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome - - - Preferential parent - - - - - - 324540 - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome - - - Preferential parent - - - - - - 324569 - Pontocerebellar hypoplasia type 8 - - - Preferential parent - - - - - - 324601 - X-linked cleft palate and ankyloglossia - - - Preferential parent - - - - - - 324761 - Microcephalic primordial dwarfism - - - Preferential parent - - - - - - 324764 - Trichorhinophalangeal syndrome - - - Preferential parent - - - - - - 325055 - 46,XX disorder of gonadal development - - - Preferential parent - - - - - - 325061 - 46,XX difference of sex development induced by fetoplacental androgens excess - - - Preferential parent - - - - - - 325093 - 46,XX difference of sex development induced by endogenous maternal-derived androgen - - - Preferential parent - - - - - - 325099 - 46,XX difference of sex development induced by exogenous maternal-derived androgen - - - Preferential parent - - - - - - 325109 - Syndrome with 46,XX difference of sex development - - - Preferential parent - - - - - - 325118 - 46,XY disorder of gonadal development - - - Preferential parent - - - - - - 325124 - Testicular agenesis - - - Preferential parent - - - - - - 325345 - 46,XY ovotesticular difference of sex development - - - Preferential parent - - - - - - 325351 - 46,XY difference of sex development of endocrine origin - - - Preferential parent - - - - - - 325357 - 46,XY difference of sex development due to impaired androgen production - - - Preferential parent - - - - - - 325448 - Leydig cell hypoplasia due to LHB deficiency - - - Preferential parent - - - - - - 325511 - 46,XY difference of sex development due to a cholesterol synthesis defect - - - Preferential parent - - - - - - 325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - - Preferential parent - - - - - - 325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - - Preferential parent - - - - - - 325537 - 46,XY difference of sex development induced by maternal exposure to endocrine disruptors - - - Preferential parent - - - - - - 325546 - Sex chromosome difference of sex development - - - Preferential parent - - - - - - 325620 - Difference of sex development of gynecological interest - - - Preferential parent - - - - - - 325632 - 46,XY difference of sex development of gynecological interest - - - Preferential parent - - - - - - 325638 - Syndrome with difference of sex development of gynecological interest - - - Preferential parent - - - - - - 325665 - Genetic difference of sex development of gynecological interest - - - Preferential parent - - - - - - 325690 - Genetic difference of sex development - - - Preferential parent - - - - - - 325697 - Genetic 46,XX difference of sex development - - - Preferential parent - - - - - - 325706 - Genetic 46,XY difference of sex development - - - Preferential parent - - - - - - 325713 - Genetic 46,XY difference of sex development of endocrine origin - - - Preferential parent - - - - - - 329191 - Tall stature-long halluces-multiple extra-epiphyses syndrome - - - Preferential parent - - - - - - 329224 - Schuurs-Hoeijmakers syndrome - - - Preferential parent - - - - - - 329319 - Thrombocythemia with distal limb defects - - - Preferential parent - - - - - - 329329 - Autosomal recessive frontotemporal pachygyria - - - Preferential parent - - - - - - 329457 - Distal arthrogryposis type 5D - - - Preferential parent - - - - - - 329802 - 5p13 microduplication syndrome - - - Preferential parent - - - - - - 329813 - Mosaic genome-wide paternal uniparental disomy syndrome - - - Preferential parent - - - - - - 330206 - Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - - Preferential parent - - - - - - 352490 - Autism spectrum disorder due to AUTS2 deficiency - - - Preferential parent - - - - - - 352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - - Preferential parent - - - - - - 352577 - Bainbridge-Ropers syndrome - - - Preferential parent - - - - - - 352629 - 16q24.1 microdeletion syndrome - - - Preferential parent - - - - - - 352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - - Preferential parent - - - - - - 352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - - Preferential parent - - - - - - 352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome - - - Preferential parent - - - - - - 353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - - Preferential parent - - - - - - 353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - - Preferential parent - - - - - - 353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - - Preferential parent - - - - - - 357001 - 19p13.13 microdeletion syndrome - - - Preferential parent - - - - - - 357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - - Preferential parent - - - - - - 357175 - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome - - - Preferential parent - - - - - - 357332 - Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome - - - Preferential parent - - - - - - 357506 - Genetic non-syndromic renal or urinary tract malformation - - - Preferential parent - - - - - - 363189 - Congenital anomaly of the great veins - - - Preferential parent - - - - - - 363203 - Ring chromosome syndrome - - - Preferential parent - - - - - - 363245 - Genetic progeroid syndrome - - - Preferential parent - - - - - - 363294 - Genetic syndromic Pierre Robin syndrome - - - Preferential parent - - - - - - 363417 - Temtamy preaxial brachydactyly syndrome - - - Preferential parent - - - - - - 363444 - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome - - - Preferential parent - - - - - - 363523 - Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - - - Preferential parent - - - - - - 363611 - CTCF-related neurodevelopmental disorder - - - Preferential parent - - - - - - 363618 - LMNA-related cardiocutaneous progeria syndrome - - - Preferential parent - - - - - - 363659 - 20q11.2 microduplication syndrome - - - Preferential parent - - - - - - 363680 - 2p13.2 microdeletion syndrome - - - Preferential parent - - - - - - 363686 - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - - - Preferential parent - - - - - - 363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - - Preferential parent - - - - - - 363705 - Craniofaciofrontodigital syndrome - - - Preferential parent - - - - - - 363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - - Preferential parent - - - - - - 363958 - 17q21.31 microdeletion syndrome - - - Preferential parent - - - - - - 363965 - Koolen-De Vries syndrome due to a point mutation - - - Preferential parent - - - - - - 363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - - Preferential parent - - - - - - 363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - - Preferential parent - - - - - - 363999 - Non-immune hydrops fetalis - - - Preferential parent - - - - - - 364013 - Immune hydrops fetalis - - - Preferential parent - - - - - - 364028 - X-linked intellectual disability due to GRIA3 mutations - - - Preferential parent - - - - - - 364198 - Bipartite talus - - - Preferential parent - - - - - - 364559 - Dysostosis - - - Preferential parent - - - - - - 364568 - Dysostosis with limb anomaly as a major feature - - - Preferential parent - - - - - - 364571 - Dysostosis with limb and face anomalies as a major feature - - - Preferential parent - - - - - - 364574 - Acrofacial dysostosis - - - Preferential parent - - - - - - 364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome - - - Preferential parent - - - - - - 369881 - 2p21 microdeletion syndrome without cystinuria - - - Preferential parent - - - - - - 369886 - Homozygous 2p21 microdeletion syndrome - - - Preferential parent - - - - - - 369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - - Preferential parent - - - - - - 369920 - Pontocerebellar hypoplasia type 9 - - - Preferential parent - - - - - - 369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - - Preferential parent - - - - - - 369979 - Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome - - - Preferential parent - - - - - - 370010 - Intellectual disability-facial dysmorphism-hand anomalies syndrome - - - Preferential parent - - - - - - 370034 - Familial syringomyelia - - - Preferential parent - - - - - - 370068 - Fetal anticonvulsant syndrome - - - Preferential parent - - - - - - 370076 - Fetal carbamazepine syndrome - - - Preferential parent - - - - - - 370079 - Proximal 16p11.2 microduplication syndrome - - - Preferential parent - - - - - - 370930 - XYLT1-CDG - - - Preferential parent - - - - - - 371436 - Genetic neurovascular malformation - - - Preferential parent - - - - - - 371445 - Genetic syndromic esophageal malformation - - - Preferential parent - - - - - - 391307 - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome - - - Preferential parent - - - - - - 391641 - Feingold syndrome type 1 - - - Preferential parent - - - - - - 391646 - Feingold syndrome type 2 - - - Preferential parent - - - - - - 391677 - Short stature-optic atrophy-Pelger-Huët anomaly syndrome - - - Preferential parent - - - - - - 397590 - Silver-Russell syndrome due to a point mutation - - - Preferential parent - - - - - - 397612 - Macrocephaly-developmental delay syndrome - - - Preferential parent - - - - - - 397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - - Preferential parent - - - - - - 397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - - Preferential parent - - - - - - 397927 - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - - - Preferential parent - - - - - - 397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - - Preferential parent - - - - - - 398069 - Schaaf-Yang syndrome - - - Preferential parent - - - - - - 398073 - Prader-Willi-like syndrome - - - Preferential parent - - - - - - 398079 - SIM1-related Prader-Willi-like syndrome - - - Preferential parent - - - - - - 398156 - Oculoauriculofrontonasal syndrome - - - Preferential parent - - - - - - 399764 - Male infertility due to gonadal dysgenesis or sperm disorder - - - Preferential parent - - - - - - 399771 - Male infertility due to sperm disorder - - - Preferential parent - - - - - - 399775 - Male infertility with spermatogenesis disorder - - - Preferential parent - - - - - - 399786 - Male infertility with spermatogenesis disorder due to single gene mutation - - - Preferential parent - - - - - - 399813 - Male infertility due to sperm motility disorder - - - Preferential parent - - - - - - 399877 - Rare female infertility due to gonadal dysgenesis - - - Preferential parent - - - - - - 399882 - Rare female infertility due to an implantation defect - - - Preferential parent - - - - - - 400025 - Female infertility due to an implantation defect of genetic origin - - - Preferential parent - - - - - - 401942 - Familial median cleft of the upper and lower lips - - - Preferential parent - - - - - - 401986 - 1p31p32 microdeletion syndrome - - - Preferential parent - - - - - - 402075 - Familial bicuspid aortic valve - - - Preferential parent - - - - - - 404443 - Tatton-Brown-Rahman syndrome - - - Preferential parent - - - - - - 404451 - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - - - Preferential parent - - - - - - 404469 - Rare female infertility due to oocyte maturation defect - - - Preferential parent - - - - - - 404476 - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - - - Preferential parent - - - - - - 404568 - Dysostosis of genetic origin - - - Preferential parent - - - - - - 404571 - Dysostosis of genetic origin with limb anomaly as a major feature - - - Preferential parent - - - - - - 404574 - Genetic syndrome with limb reduction defects - - - Preferential parent - - - - - - 404577 - Genetic syndrome with limb malformations as a major feature - - - Preferential parent - - - - - - 404584 - Rare genetic bone development disorder - - - Preferential parent - - - - - - 411493 - Pontocerebellar hypoplasia type 10 - - - Preferential parent - - - - - - 411501 - Williams-Campbell syndrome - - - Preferential parent - - - - - - 411590 - Wolfram-like syndrome - - - Preferential parent - - - - - - 411709 - Renal agenesis - - - Preferential parent - - - - - - 412035 - 13q12.3 microdeletion syndrome - - - Preferential parent - - - - - - 414726 - Genetic facial cleft - - - Preferential parent - - - - - - 420179 - Malan overgrowth syndrome - - - Preferential parent - - - - - - 420561 - Temple-Baraitser syndrome - - - Preferential parent - - - - - - 420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - - Preferential parent - - - - - - 423306 - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - - Preferential parent - - - - - - 423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - - Preferential parent - - - - - - 423655 - ARX-related encephalopathy-brain malformation spectrum - - - Preferential parent - - - - - - 423693 - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect - - - Preferential parent - - - - - - 423712 - Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy - - - Preferential parent - - - - - - 431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - - Preferential parent - - - - - - 431341 - Patent urachus - - - Preferential parent - - - - - - 431344 - Urachal sinus - - - Preferential parent - - - - - - 431347 - Urachal diverticulum - - - Preferential parent - - - - - - 434179 - Orofaciodigital syndrome type 14 - - - Preferential parent - - - - - - 435365 - Fetal lower urinary tract obstruction - - - Preferential parent - - - - - - 435372 - Anterior urethral valve - - - Preferential parent - - - - - - 435603 - Genetic otorhinolaryngological malformation - - - Preferential parent - - - - - - 435606 - Genetic nose and cavum anomaly - - - Preferential parent - - - - - - 435609 - Genetic larynx anomaly - - - Preferential parent - - - - - - 435612 - Genetic tracheal anomaly - - - Preferential parent - - - - - - 435743 - Congenital urachal anomaly - - - Preferential parent - - - - - - 435930 - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome - - - Preferential parent - - - - - - 435938 - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome - - - Preferential parent - - - - - - 435953 - Progeroid features-hepatocellular carcinoma predisposition syndrome - - - Preferential parent - - - - - - 436003 - Contractures-developmental delay-Pierre Robin syndrome - - - Preferential parent - - - - - - 436141 - HIDEA syndrome - - - Preferential parent - - - - - - 436252 - Combined immunodeficiency-multiple intestinal atresia - - - Preferential parent - - - - - - 438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - - Preferential parent - - - - - - 439822 - PDE4D haploinsufficiency syndrome - - - Preferential parent - - - - - - 439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - - Preferential parent - - - - - - 443087 - 46,XY difference of sex development due to testicular 17,20-desmolase deficiency - - - Preferential parent - - - - - - 443090 - 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect - - - Preferential parent - - - - - - 443988 - Ventriculomegaly-cystic kidney disease - - - Preferential parent - - - - - - 443995 - Mandibulofacial dysostosis with alopecia - - - Preferential parent - - - - - - 444002 - 11q22.2q22.3 microdeletion syndrome - - - Preferential parent - - - - - - 444048 - 46,XX ovarian dysgenesis-short stature syndrome - - - Preferential parent - - - - - - 444051 - 20q11.2 microdeletion syndrome - - - Preferential parent - - - - - - 444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - - Preferential parent - - - - - - 444072 - Cerebellar-facial-dental syndrome - - - Preferential parent - - - - - - 444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - - Preferential parent - - - - - - 444941 - Caudal regression-sirenomelia spectrum - - - Preferential parent - - - - - - 447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - - Preferential parent - - - - - - 447974 - Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome - - - Preferential parent - - - - - - 447980 - 19p13.3 microduplication syndrome - - - Preferential parent - - - - - - 447985 - Partial duplication of the short arm of chromosome 19 syndrome - - - Preferential parent - - - - - - 448251 - Progressive autosomal recessive ataxia-deafness syndrome - - - Preferential parent - - - - - - 451612 - Familial congenital nasolacrimal duct obstruction - - - Preferential parent - - - - - - 453499 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - - Preferential parent - - - - - - 453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - - Preferential parent - - - - - - 454750 - Isolated tracheoesophageal fistula - - - Preferential parent - - - - - - 456298 - 1p35.2 microdeletion syndrome - - - Preferential parent - - - - - - 456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - - Preferential parent - - - - - - 456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - - Preferential parent - - - - - - 457083 - Isolated splenogonadal fusion - - - Preferential parent - - - - - - 457193 - KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome - - - Preferential parent - - - - - - 457240 - X-linked intellectual disability-short stature-overweight syndrome - - - Preferential parent - - - - - - 457279 - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - - - Preferential parent - - - - - - 457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - - Preferential parent - - - - - - 457351 - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - - Preferential parent - - - - - - 457359 - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - - Preferential parent - - - - - - 457365 - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - - - Preferential parent - - - - - - 457485 - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - - - Preferential parent - - - - - - 458775 - Congenital hemangioma - - - Preferential parent - - - - - - 458785 - Partially involuting congenital hemangioma - - - Preferential parent - - - - - - 458792 - Mixed cystic lymphatic malformation - - - Preferential parent - - - - - - 458830 - Rare capillary malformation with associated anomalies - - - Preferential parent - - - - - - 458833 - Common cystic lymphatic malformation - - - Preferential parent - - - - - - 458844 - Rare vascular malformation of major vessels - - - Preferential parent - - - - - - 459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - - Preferential parent - - - - - - 459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - - Preferential parent - - - - - - 459526 - Rare genetic capillary malformation - - - Preferential parent - - - - - - 459537 - Genetic complex vascular malformation with associated anomalies - - - Preferential parent - - - - - - 459548 - Rare genetic venous malformation - - - Preferential parent - - - - - - 459787 - Lethal multiple congenital anomalies/dysmorphic syndrome - - - Preferential parent - - - - - - 464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - - Preferential parent - - - - - - 464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - - Preferential parent - - - - - - 464306 - DYRK1A-related intellectual disability syndrome - - - Preferential parent - - - - - - 464311 - Intellectual disability syndrome due to a DYRK1A point mutation - - - Preferential parent - - - - - - 464321 - Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome - - - Preferential parent - - - - - - 464738 - Basel-Vanagaite-Smirin-Yosef syndrome - - - Preferential parent - - - - - - 465824 - Fetal encasement syndrome - - - Preferential parent - - - - - - 466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - - Preferential parent - - - - - - 466695 - Supratip dysplasia - - - Preferential parent - - - - - - 466729 - Familial patent arterial duct - - - Preferential parent - - - - - - 466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - - Preferential parent - - - - - - 466791 - Macrocephaly-intellectual disability-left ventricular non compaction syndrome - - - Preferential parent - - - - - - 466943 - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome - - - Preferential parent - - - - - - 466950 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation - - - Preferential parent - - - - - - 467166 - Tubulinopathy-associated dysgyria - - - Preferential parent - - - - - - 468678 - White-Sutton syndrome - - - Preferential parent - - - - - - 471383 - Genetic lethal multiple congenital anomalies/dysmorphic syndrome - - - Preferential parent - - - - - - 474347 - Rare congenital anomaly of ventricular septum - - - Preferential parent - - - - - - 476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - - Preferential parent - - - - - - 476126 - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - - - Preferential parent - - - - - - 477805 - Genetic cardiac malformation - - - Preferential parent - - - - - - 477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - - Preferential parent - - - - - - 477817 - PMP22-RAI1 contiguous gene duplication syndrome - - - Preferential parent - - - - - - 477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - - Preferential parent - - - - - - 480524 - Idiopathic peliosis hepatis - - - Preferential parent - - - - - - 480528 - Lethal hydranencephaly-diaphragmatic hernia syndrome - - - Preferential parent - - - - - - 480531 - Congenital portosystemic shunt - - - Preferential parent - - - - - - 480880 - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - - Preferential parent - - - - - - 480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - - Preferential parent - - - - - - 480907 - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome - - - Preferential parent - - - - - - 481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - - Preferential parent - - - - - - 481986 - Familial schizencephaly - - - Preferential parent - - - - - - 482606 - X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome - - - Preferential parent - - - - - - 485275 - Acquired schizencephaly - - - Preferential parent - - - - - - 485358 - Propylthiouracil embryofetopathy - - - Preferential parent - - - - - - 485405 - 16p12.1p12.3 triplication syndrome - - - Preferential parent - - - - - - 486811 - Prenatal-onset spinal muscular atrophy with congenital bone fractures - - - Preferential parent - - - - - - 487825 - Pierpont syndrome - - - Preferential parent - - - - - - 488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - - Preferential parent - - - - - - 488434 - Camptodactyly syndrome, Guadalajara type 3 - - - Preferential parent - - - - - - 488437 - SIX2-related frontonasal dysplasia - - - Preferential parent - - - - - - 488586 - Congenital amyoplasia - - - Preferential parent - - - - - - 488627 - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - - Preferential parent - - - - - - 488632 - TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome - - - Preferential parent - - - - - - 488642 - TELO2-related intellectual disability-neurodevelopmental disorder - - - Preferential parent - - - - - - 494344 - RERE-related neurodevelopmental syndrome - - - Preferential parent - - - - - - 494421 - Sacrococcygeal teratoma - - - Preferential parent - - - - - - 494424 - Extracranial carotid artery aneurysm - - - Preferential parent - - - - - - 494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - - Preferential parent - - - - - - 495818 - 9q33.3q34.11 microdeletion syndrome - - - Preferential parent - - - - - - 495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - - Preferential parent - - - - - - 495879 - Congenital agenesis of the scrotum - - - Preferential parent - - - - - - 496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - - Preferential parent - - - - - - 496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - - Preferential parent - - - - - - 496751 - EVEN-plus syndrome - - - Preferential parent - - - - - - 498448 - Overgrowth or tall stature syndrome with skeletal involvement - - - Preferential parent - - - - - - 498451 - Dysostosis with brachydactyly without extraskeletal manifestations - - - Preferential parent - - - - - - 498454 - Dysostosis with brachydactyly with extraskeletal manifestations - - - Preferential parent - - - - - - 498457 - Non-syndromic longitudinal limb defect - - - Preferential parent - - - - - - 498461 - Non-syndromic terminal transverse limb defect - - - Preferential parent - - - - - - 498464 - Non-syndromic preaxial polydactyly - - - Preferential parent - - - - - - 498467 - Non-syndromic postaxial polydactyly - - - Preferential parent - - - - - - 498470 - Non-syndromic complex polydactyly - - - Preferential parent - - - - - - 498477 - Ectrodactyly with and without other manifestations - - - Preferential parent - - - - - - 498491 - Non-syndromic complete hemimelia - - - Preferential parent - - - - - - 498494 - Mirror-image polydactyly - - - Preferential parent - - - - - - 498602 - Sugarman brachydactyly - - - Preferential parent - - - - - - 498693 - MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome - - - Preferential parent - - - - - - 499009 - Congenital syphilis - - - Preferential parent - - - - - - 500055 - Hao-Fountain syndrome due to 16p13.2 microdeletion - - - Preferential parent - - - - - - 500095 - Tall stature-intellectual disability-renal anomalies syndrome - - - Preferential parent - - - - - - 500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - - Preferential parent - - - - - - 500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - - Preferential parent - - - - - - 500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - - Preferential parent - - - - - - 500159 - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom - - - Preferential parent - - - - - - 500163 - Witteveen-Kolk syndrome - - - Preferential parent - - - - - - 500166 - SIN3-related intellectual disability syndrome due to a point mutation - - - Preferential parent - - - - - - 502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - - Preferential parent - - - - - - 502430 - Weiss-Kruszka Syndrome - - - Preferential parent - - - - - - 502434 - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome - - - Preferential parent - - - - - - 502437 - 4q25 proximal deletion syndrome - - - Preferential parent - - - - - - 505237 - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - - Preferential parent - - - - - - 505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - - Preferential parent - - - - - - 506307 - Stromme syndrome - - - Preferential parent - - - - - - 506358 - Gabriele-de Vries syndrome - - - Preferential parent - - - - - - 508410 - Familial intestinal malrotation - - - Preferential parent - - - - - - 508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - - Preferential parent - - - - - - 508488 - 8q24.3 microdeletion syndrome - - - Preferential parent - - - - - - 508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - - Preferential parent - - - - - - 508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - - Preferential parent - - - - - - 508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - - Preferential parent - - - - - - 513456 - Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome - - - Preferential parent - - - - - - 514352 - Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome - - - Preferential parent - - - - - - 519272 - Structural developmental eye defect - - - Preferential parent - - - - - - 519274 - Syndromic lacrimal system disorder - - - Preferential parent - - - - - - 519276 - Anterior segment developmental abnormality with extraocular manifestations - - - Preferential parent - - - - - - 519292 - Syndromic ectopia lentis - - - Preferential parent - - - - - - 519294 - Syndromic microspherophakia - - - Preferential parent - - - - - - 519333 - Congenital optic disc excavation - - - Preferential parent - - - - - - 521258 - Xq25 microduplication syndrome - - - Preferential parent - - - - - - 521308 - Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome - - - Preferential parent - - - - - - 521426 - PLAA-associated neurodevelopmental disorder - - - Preferential parent - - - - - - 521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - - Preferential parent - - - - - - 521445 - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - - - Preferential parent - - - - - - 522526 - Rare genetic palpebral disorder - - - Preferential parent - - - - - - 522534 - Lacrimal drainage system anomaly of genetic origin - - - Preferential parent - - - - - - 522536 - Structural developmental eye defect of genetic origin - - - Preferential parent - - - - - - 522540 - Anterior segment developmental anomaly of genetic origin - - - Preferential parent - - - - - - 522550 - Lens size anomaly of genetic origin - - - Preferential parent - - - - - - 525677 - Genetic congenital malformation of the eye with glaucoma as a major feature - - - Preferential parent - - - - - - 527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - - Preferential parent - - - - - - 529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - - Preferential parent - - - - - - 529962 - 17q24.2 microdeletion syndrome - - - Preferential parent - - - - - - 529965 - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome - - - Preferential parent - - - - - - 530033 - Dermoid or epidermoid cyst of the central nervous system - - - Preferential parent - - - - - - 530313 - PIK3CA-related overgrowth syndrome - - - Preferential parent - - - - - - 530983 - Lamb-Shaffer syndrome - - - Preferential parent - - - - - - 536391 - RASopathy - - - Preferential parent - - - - - - 538574 - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome - - - Preferential parent - - - - - - 541443 - Anomalous aortic origin of the left coronary artery - - - Preferential parent - - - - - - 541454 - Anomalous aortic origin of the right coronary artery - - - Preferential parent - - - - - - 541478 - Anomalous aortic origin of coronary artery - - - Preferential parent - - - - - - 541507 - Anomalous origin of coronary artery from the pulmonary artery - - - Preferential parent - - - - - - 542568 - Quadricuspid aortic valve - - - Preferential parent - - - - - - 542822 - Anomaly of the coronary ostia - - - Preferential parent - - - - - - 544503 - RNF13-related severe early-onset epileptic encephalopathy - - - Preferential parent - - - - - - 555874 - Congenital tricuspid valve dysplasia - - - Preferential parent - - - - - - 555877 - FLNA-related X-linked myxomatous valvular dysplasia - - - Preferential parent - - - - - - 556955 - Pancreatic agenesis-holoprosencephaly syndrome - - - Preferential parent - - - - - - 557866 - Rare disorder with Hirschsprung disease as a major feature - - - Preferential parent - - - - - - 562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - - Preferential parent - - - - - - 562569 - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - - Preferential parent - - - - - - 563609 - Isolated anencephaly - - - Preferential parent - - - - - - 563612 - Isolated exencephaly - - - Preferential parent - - - - - - 563951 - Isolated congenital aglossia - - - Preferential parent - - - - - - 563954 - Isolated congenital hypoglossia - - - Preferential parent - - - - - - 565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - - Preferential parent - - - - - - 566847 - Aprosencephaly/atelencephaly spectrum - - - Preferential parent - - - - - - 566852 - Atelencephaly - - - Preferential parent - - - - - - 566857 - Aprosencephaly - - - Preferential parent - - - - - - 566862 - Left sided atrial isomerism - - - Preferential parent - - - - - - 567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - - Preferential parent - - - - - - 568041 - Primary lymphedema without systemic or visceral involvement - - - Preferential parent - - - - - - 568044 - Primary lymphedema with systemic or visceral involvement - - - Preferential parent - - - - - - 568047 - Disorder with multisystemic involvement and primary lymphedema - - - Preferential parent - - - - - - 568051 - GJC2-related late-onset primary lymphedema - - - Preferential parent - - - - - - 568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - - Preferential parent - - - - - - 568062 - PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis - - - Preferential parent - - - - - - 568065 - EPHB4-related lymphatic-related hydrops fetalis - - - Preferential parent - - - - - - 569816 - CELSR1-related late-onset primary lymphedema - - - Preferential parent - - - - - - 569821 - Congenital primary lymphedema of Gordon - - - Preferential parent - - - - - - 572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - - Preferential parent - - - - - - 572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - - Preferential parent - - - - - - 572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - - Preferential parent - - - - - - 572361 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - - Preferential parent - - - - - - 572385 - Brachydactyly type B1 - - - Preferential parent - - - - - - 572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - - Preferential parent - - - - - - 572768 - Microcephaly-micromelia syndrome - - - Preferential parent - - - - - - 572773 - Microcephaly-short stature-limb abnormalities syndrome - - - Preferential parent - - - - - - 573253 - Split cord malformation type II - - - Preferential parent - - - - - - 573278 - Split cord malformation - - - Preferential parent - - - - - - 576227 - Complete atrioventricular septal defect without ventricular hypoplasia - - - Preferential parent - - - - - - 576232 - Partial atrioventricular septal defect with ventricular hypoplasia - - - Preferential parent - - - - - - 576235 - Partial atrioventricular septal defect without ventricular hypoplasia - - - Preferential parent - - - - - - 576242 - Intermediate atrioventricular septal defect - - - Preferential parent - - - - - - 576278 - SATB2-associated syndrome - - - Preferential parent - - - - - - 576283 - SATB2-associated syndrome due to a pathogenic variant - - - Preferential parent - - - - - - 580933 - Lethal brain and heart developmental defects - - - Preferential parent - - - - - - 580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - - Preferential parent - - - - - - 583097 - Congenital infiltrating lipomatosis of the face - - - Preferential parent - - - - - - 589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - - Preferential parent - - - - - - 589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - - Preferential parent - - - - - - 589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - - Preferential parent - - - - - - 592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - - Preferential parent - - - - - - 592574 - Menke-Hennekam syndrome - - - Preferential parent - - - - - - 596008 - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - - Preferential parent - - - - - - 597738 - Luscan-Lumish syndrome - - - Preferential parent - - - - - - 597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - - Preferential parent - - - - - - 597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - - Preferential parent - - - - - - 597749 - KAT6B-related multiple congenital anomalies syndrome - - - Preferential parent - - - - - - 598603 - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - - Preferential parent - - - - - - 599082 - CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome - - - Preferential parent - - - - - - 600668 - CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome - - - Preferential parent - - - - - - 600731 - Clark-Baraitser syndrome - - - Preferential parent - - - - - - 600952 - Non-syndromic perineal fistula - - - Preferential parent - - - - - - 600961 - Non-syndromic rectourethral fistula - - - Preferential parent - - - - - - 600966 - Non-syndromic rectourethral fistula, bulbar type - - - Preferential parent - - - - - - 600975 - Non-syndromic rectourethral fistula, prostatic type - - - Preferential parent - - - - - - 600984 - Non-syndromic rectovesical fistula - - - Preferential parent - - - - - - 600993 - Non-syndromic vestibular fistula - - - Preferential parent - - - - - - 600998 - Non-syndromic cloacal malformation - - - Preferential parent - - - - - - 601002 - Non-syndromic anorectal malformation without fistula - - - Preferential parent - - - - - - 601008 - Non-syndromic anal stenosis - - - Preferential parent - - - - - - 601013 - Non-syndromic pouch colon - - - Preferential parent - - - - - - 601018 - Non-syndromic rectal atresia - - - Preferential parent - - - - - - 601023 - Non-syndromic rectal stenosis - - - Preferential parent - - - - - - 601028 - Non-syndromic rectovaginal fistula - - - Preferential parent - - - - - - 601033 - Non-syndromic H-type fistula - - - Preferential parent - - - - - - 603448 - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - - Preferential parent - - - - - - 603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - - Preferential parent - - - - - - 603515 - Isolated female hypospadias - - - Preferential parent - - - - - - 603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - - Preferential parent - - - - - - 603689 - KLHL7-related Bohring-Opitz-like syndrome - - - Preferential parent - - - - - - 610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - - Preferential parent - - - - - - 611201 - Oculogastrointestinal-neurodevelopmental syndrome - - - Preferential parent - - - - - - 611247 - Pontocerebellar hypoplasia type 11 - - - Preferential parent - - - - - - 611256 - Pontocerebellar hypoplasia type 12 - - - Preferential parent - - - - - - 611327 - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - - Preferential parent - - - - - - 613267 - Pontocerebellar hypoplasia type 13 - - - Preferential parent - - - - - - 613274 - Pontocerebellar hypoplasia type 14 - - - Preferential parent - - - - - - 615954 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome - - - Preferential parent - - - - - - 615983 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation - - - Preferential parent - - - - - - 615986 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster - - - Preferential parent - - - - - - 619233 - Hereditary persistence of fetal hemoglobin-intellectual disability syndrome - - - Preferential parent - - - - - - 620096 - Non-syndromic unisutural craniosynostosis - - - Preferential parent - - - - - - 620102 - Non-syndromic unicoronal craniosynostosis - - - Preferential parent - - - - - - 620113 - Non-syndromic unilambdoid craniosynostosis - - - Preferential parent - - - - - - 620139 - Non-syndromic unifrontosphenoidal craniosynostosis - - - Preferential parent - - - - - - 620146 - Non-syndromic unisquamosal craniosynostosis - - - Preferential parent - - - - - - 620152 - Non-syndromic multisutural craniosynostosis - - - Preferential parent - - - - - - 620158 - Non-syndromic non-specific multisutural craniosynostosis - - - Preferential parent - - - - - - 620178 - Non-syndromic bilambdoid craniosynostosis - - - Preferential parent - - - - - - 620186 - Non-syndromic unicoronal and sagittal craniosynostosis - - - Preferential parent - - - - - - 620192 - Non-syndromic metopic and sagittal craniosynostosis - - - Preferential parent - - - - - - 620198 - Non-syndromic bicoronal and metopic craniosynostosis - - - Preferential parent - - - - - - 620205 - Non-syndromic bicoronal and sagittal craniosynostosis - - - Preferential parent - - - - - - 620212 - Non-syndromic pansynostosis - - - Preferential parent - - - - - - 622925 - X-linked severe syndromic thoracic aortic aneurysm and dissection - - - Preferential parent - - - - - - 632603 - Mesomelic dysplasia-digital anomalies-intellectual disability syndrome - - - Preferential parent - - - - - - 633004 - KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome - - - Preferential parent - - - - - - 633028 - CPE-related Prader-Willi-like syndrome - - - Preferential parent - - - - - - 633035 - Intellectual disability-early-onset cataract-microcephaly syndrome - - - Preferential parent - - - - - - 633076 - Split cord malformation, composite type - - - Preferential parent - - - - - - 633099 - PAICS deficiency - - - Preferential parent - - - - - - 633211 - Preaxial digit brachydactyly-webbed fingers - - - Preferential parent - - - - - - 633228 - Isolated proximal femoral focal deficiency - - - Preferential parent - - - - - - 637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - - Preferential parent - - - - - - 637061 - Isolated optic nerve hypoplasia - - - Preferential parent - - - - - - 637064 - Isolated optic nerve aplasia - - - Preferential parent - - - - - - 642071 - Primary pulmonary vein stenosis - - - Preferential parent - - - - - - 642675 - CHD8 overgrowth syndrome - - - Preferential parent - - - - - - 642763 - Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation - - - Preferential parent - - - - - - 642945 - Perrault syndrome type 1 - - - Preferential parent - - - - - - 642976 - Perrault syndrome type 2 - - - Preferential parent - - - - - - 643503 - Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome - - - Preferential parent - - - - - - 643538 - Hao-Fountain syndrome due to USP7 mutation - - - Preferential parent - - - - - - 643549 - Hao-Fountain syndrome - - - Preferential parent - - - - - - 645188 - Spinal dermal sinus - - - Preferential parent - - - - - - 645193 - Dysraphism with stalk - - - Preferential parent - - - - - - 645196 - Limited dorsal myeloschisis - - - Preferential parent - - - - - - 645202 - Closed spinal dysraphism - - - Preferential parent - - - - - - 645270 - Open spinal dysraphism with a posterior meningocele - - - Preferential parent - - - - - - 645273 - Dysraphic spinal cord lipoma - - - Preferential parent - - - - - - 645276 - Spinal cord lipoma - - - Preferential parent - - - - - - 645279 - Fibrolipomatous filum anomaly - - - Preferential parent - - - - - - 645282 - Anomaly of the filum - - - Preferential parent - - - - - - 645285 - Chaotic conus spinal cord lipoma - - - Preferential parent - - - - - - 645288 - Terminal extramedullary conus spinal cord lipoma - - - Preferential parent - - - - - - 645291 - Transitional extramedullary conus spinal cord lipoma - - - Preferential parent - - - - - - 645294 - Posterior extramedullary conus spinal cord lipoma - - - Preferential parent - - - - - - 645297 - Extramedullary conus spinal cord lipoma - - - Preferential parent - - - - - - 645300 - Lipomatous non-saccular limited dorsal myeloschisis - - - Preferential parent - - - - - - 645310 - Fibroneural non-saccular limited dorsal myeloschisis - - - Preferential parent - - - - - - 645319 - Saccular spinal dysraphism with a stalk to the dome - - - Preferential parent - - - - - - 645322 - Isolated transitional filum lipoma - - - Preferential parent - - - - - - 645325 - Isolated filum lipoma - - - Preferential parent - - - - - - 645334 - Retained medullary cord - - - Preferential parent - - - - - - 645337 - Terminal myelocystocele - - - Preferential parent - - - - - - 645340 - Non-terminal myelocystocele - - - Preferential parent - - - - - - 645343 - Non-saccular limited dorsal myeloschisis - - - Preferential parent - - - - - - 645354 - Saccular limited dorsal myeloschisis - - - Preferential parent - - - - - - 645359 - Intramedullary non-dysraphic spinal cord lipoma - - - Preferential parent - - - - - - 645362 - Dorsal spinal cord lipoma - - - Preferential parent - - - - - - 645367 - Conus spinal cord lipoma - - - Preferential parent - - - - - - 645378 - Myelic limited dorsal malformation - - - Preferential parent - - - - - - 645383 - True myelomeningocele - - - Preferential parent - - - - - - 645388 - Hemi-myelomeningocele - - - Preferential parent - - - - - - 645393 - Hemi-myeloschisis - - - Preferential parent - - - - - - 645398 - Myeloschisis - - - Preferential parent - - - - - - 645401 - True myeloschisis - - - Preferential parent - - - - - - 645749 - Congenital esophageal stenosis - - - Preferential parent - - - - - - 646278 - CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome - - - Preferential parent - - - - - - 647681 - Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome - - - Preferential parent - - - - - - 647794 - Isolated persistent urogenital sinus - - - Preferential parent - - - - - - 647811 - Cardiac-urogenital syndrome - - - Preferential parent - - - - - - 647916 - Conjoined twins - - - Preferential parent - - - - - - 648992 - Non-syndromic bridging bronchus - - - Preferential parent - - - - - - 649010 - Non-syndromic congenital bronchial atresia - - - Preferential parent - - - - - - 649014 - Bronchial malformation - - - Preferential parent - - - - - - 649029 - Isolated left bronchial isomerism - - - Preferential parent - - - - - - 652487 - Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome - - - Preferential parent - - - - - - 652514 - Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation - - - Preferential parent - - - - - - 652519 - Cleft palate-congenital heart defect-intellectual disability syndrome - - - Preferential parent - - - - - - 652528 - Non-syndromic supernumerary kidneys - - - Preferential parent - - - - - - 652668 - Primary superior vena cava aneurysm - - - Preferential parent - - - - - - 652678 - Primary inferior vena cava aneurysm - - - Preferential parent - - - - - - 653712 - CHD4-related neurodevelopmental disorder - - - Preferential parent - - - - - - 653767 - Jansen-de Vries syndrome - - - Preferential parent - - - - - - 656126 - Segmental spinal dysgenesis - - - Preferential parent - - - - - - 656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - - Preferential parent - - - - - - 656135 - Intellectual disability-cupped ears syndrome - - - Preferential parent - - - - - - 658540 - 16q22 deletion syndrome - - - Preferential parent - - - - - - 658574 - Isolated pulmonary artery sling - - - Preferential parent - - - - - - 658595 - DNMT3A-related microcephalic dwarfism - - - Preferential parent - - - - - - 658805 - Greig cephalopolysyndactyly-contiguous gene syndrome - - - Preferential parent - - - - - - 658843 - Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - - - Preferential parent - - - - - - 659387 - PRC-2 complex-related overgrowth spectrum - - - Preferential parent - - - - - - 659396 - Cohen-Gibson syndrome - - - Preferential parent - - - - - - 659463 - Imagawa-Matsumoto syndrome - - - Preferential parent - - - - - - 659609 - Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome - - - Preferential parent - - - - - - 659642 - Rauch-Steindl syndrome - - - Preferential parent - - - - - - 659702 - Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome - - - Preferential parent - - - - - - 659873 - Wormian bones-micrognathia-abnormal dentition-progeroid syndrome - - - Preferential parent - - - - - - 659904 - Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome - - - Preferential parent - - - - - - 659975 - Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome - - - Preferential parent - - - - - - 660021 - Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome - - - Preferential parent - - - - - - 662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - - Preferential parent - - - - - - 662172 - Phelan-McDermid syndrome due to SHANK3 mutation - - - Preferential parent - - - - - - 662175 - Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome - - - Preferential parent - - - - - - 662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - - Preferential parent - - - - - - 662189 - Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome - - - Preferential parent - - - - - - 662198 - Neurodevelopmental delay-intellectual disability-skeletal defects syndrome - - - Preferential parent - - - - - - 662207 - Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome - - - Preferential parent - - - - - - 662234 - Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome - - - Preferential parent - - - - - - 662376 - Isolated gastric duplication - - - Preferential parent - - - - - - 662388 - Isolated gallbladder duplication - - - Preferential parent - - - - - - 662392 - Isolated colonic duplication - - - Preferential parent - - - - - - 662405 - Isolated pyloric duplication - - - Preferential parent - - - - - - 662456 - Isolated small intestine duplication - - - Preferential parent - - - - - - 662473 - Isolated duodenal duplication - - - Preferential parent - - - - - - 662480 - Isolated jejuno-ileal duplication - - - Preferential parent - - - - - - 662762 - Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome - - - Preferential parent - - - - - - 662829 - Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome - - - Preferential parent - - - - - - 664372 - Soft and hard cleft palate - - - Preferential parent - - - - - - 664401 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation - - - Preferential parent - - - - - - 664404 - 6q25.1 microdeletion syndrome - - - Preferential parent - - - - - - 664410 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome - - - Preferential parent - - - - - - 664416 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation - - - Preferential parent - - - - - - 664430 - Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome - - - Preferential parent - - - - - - 664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - - Preferential parent - - - - - - 664923 - Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - - - Preferential parent - - - - - - 665044 - Common arterial trunk with aortic dominance - - - Preferential parent - - - - - - 665058 - Common arterial trunk with pulmonary dominance and interrupted aortic arch - - - Preferential parent - - - - - - 667589 - Isolated congenital femoral bifurcation - - - Preferential parent - - - - - - 672979 - Craniosynostosis-facial dysmorphism-brachydactyly syndrome - - - Preferential parent - - - - - - 672985 - Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome - - - Preferential parent - - - - - - 675380 - Isolated segmental infantile hemangioma - - - Preferential parent - - - - - - 675782 - Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN - - - Preferential parent - - - - - - 684216 - Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - - - Preferential parent - - - - - - 684226 - Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome - - - Preferential parent - - - - - - 684232 - Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome - - - Preferential parent - - - - - - 684305 - Neurooculocardiogenitourinary syndrome - - - Preferential parent - - - - - - 684742 - 2q13 microdeletion syndrome - - - Preferential parent - - - - - - 684752 - Isolated anal canal duplication - - - Preferential parent - - - - - - 684757 - Malformation of the anal canal and the rectum - - - Preferential parent - - - - - - 685017 - Combined immunodeficiency due to TBX1 deficiency - - - Preferential parent - - - - - - 685067 - Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome - - - Preferential parent - - - - - - 686482 - BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome - - - Preferential parent - - - - - - 686488 - RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome - - - Preferential parent - - - - - - 686495 - MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome - - - Preferential parent - - - - - - 686556 - Isolated congenital cholesteatoma of the middle ear - - - Preferential parent - - - - - - 687424 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion - - - Preferential parent - - - - - - 687695 - 10p13-p14 deletion syndrome - - - Preferential parent - - - - - - 688523 - Splenic venous malformation - - - Preferential parent - - - - - - 688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - - - Preferential parent - - - - - - 688642 - Turnpenny-Fry syndrome - - - Preferential parent - - - - - - 689397 - Poirier-Bienvenu neurodevelopmental syndrome - - - Preferential parent - - - - - - 689408 - Shashi-Pena syndrome - - - Preferential parent - - - - - - 689422 - Okur-Chung neurodevelopmental syndrome - - - Preferential parent - - - - - - 689822 - Structural heart defects-renal anomalies syndrome - - - Preferential parent - - - - - - 689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - - Preferential parent - - - - - - 692193 - CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome - - - Preferential parent - - - - - - 692271 - Cerebral proliferative angiopathy - - - Preferential parent - - - - - - 693549 - Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome - - - Preferential parent - - - - - - 693815 - Uterine arteriovenous malformation - - - Preferential parent - - - - - - 693826 - Pancreatic arteriovenous malformation - - - Preferential parent - - - - - - 693832 - Gastrointestinal tract arteriovenous malformation - - - Preferential parent - - - - - - 693839 - Renal arteriovenous malformation - - - Preferential parent - - - - - - 693846 - Hepatic arteriovenous malformation - - - Preferential parent - - - - - - 693855 - Visceral arteriovenous malformation - - - Preferential parent - - - - - - 693863 - Splenic arteriovenous malformation - - - Preferential parent - - - - - - 693869 - Gallblader arteriovenous malformation - - - Preferential parent - - - - - - 693872 - Urinary tract arteriovenous malformation - - - Preferential parent - - - - - - 693907 - RASA1-related capillary malformation-arteriovenous malformation - - - Preferential parent - - - - - - 693912 - EPHB4-related capillary malformation-arteriovenous malformation - - - Preferential parent - - - - - - 694228 - Congenital intrahepatic arterioportal fistula - - - Preferential parent - - - - - - 694304 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome - - - Preferential parent - - - - - - 694308 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation - - - Preferential parent - - - - - - 694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - - Preferential parent - - - - - - 694946 - Alazami-Yuan syndrome - - - Preferential parent - - - - - - 694956 - Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome - - - Preferential parent - - - - - - 695032 - Giant omphalocele - - - Preferential parent - - - - - - 695038 - Small omphalocele - - - Preferential parent - - - - - - 695611 - 3q26q28 deletion syndrome - - - Preferential parent - - - - - - 696897 - Congenital megaprepuce - - - Preferential parent - - - - - - 697067 - Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome - - - Preferential parent - - - - - - 697760 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome - - - Preferential parent - - - - - - 697764 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation - - - Preferential parent - - - - - - 697986 - Congenital peritoneal encapsulation - - - Preferential parent - - - - - - 698085 - Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome - - - Preferential parent - - - - - - 698090 - Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome - - - Preferential parent - - - - - - 698260 - Carotid web - - - Preferential parent - - - - - - 699683 - Fibro-adipose vascular anomaly - - - Preferential parent - - - - - - 699835 - Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome - - - Preferential parent - - - - - - 699844 - Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome - - - Preferential parent - - - - - - 700160 - ADNP-related blepharophimosis-intellectual disability syndrome - - - Preferential parent - - - - - - 700286 - Congenital high airway obstruction syndrome - - - Preferential parent - - - - - - 700325 - NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome - - - Preferential parent - - - - - - 93591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591 - Infantile nephronophthisis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592 - Juvenile nephronophthisis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93587 - Genetic cystic renal disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589 - Late-onset nephronophthisis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 596426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596426 - Syndrome of reduced sensitivity to thyroid hormone - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93593 - Nephropathy secondary to a storage or other metabolic disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 596008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 93583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 - Congenital thrombotic thrombocytopenic purpura - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585 - Immune-mediated thrombotic thrombocytopenic purpura - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 93581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581 - Atypical hemolytic uremic syndrome with anti-factor H antibodies - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 - Distal renal tubular acidosis with anemia - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 596759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 - Combined immunodeficiency due to RELA haploinsufficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 93608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608 - Autosomal dominant distal renal tubular acidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 - Autosomal recessive proximal renal tubular acidosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93614 - Hematological disorder with renal involvement - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 - Cystinuria type B - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 596937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596937 - Portosinusoidal vascular disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 93612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 - Cystinuria type A - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 596941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596941 - Incomplete septal cirrhosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 93602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 - Xanthinuria type II - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 - Xanthinuria type I - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 596448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596448 - IgG4-related systemic disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 - Primary hyperoxaluria type 3 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 - Primary hyperoxaluria type 2 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606 - Nephrogenic syndrome of inappropriate antidiuresis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 596753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753 - VEXAS syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 93605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605 - Bartter syndrome type 3 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 93603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93603 - Rare renal tubular disease - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 99092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99092 - Interventricular septum aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094 - Laubry-Pezzi syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087 - Coronary ostial stenosis or atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089 - Abnormal number of coronary ostia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090 - Malposition of a coronary ostium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 - Pulmonary artery hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 - Peripheral pulmonary stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 - Cervical aortic arch - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 - Right aortic arch - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 - Dysphagia lusoria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 - Persistent fifth aortic arch - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 - Encircling double aortic arch - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 - Neuhauser anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 - Kommerell diverticulum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072 - Congenital patent ductus arteriosus aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071 - Aorto-left ventricular tunnel - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 - Complete atrioventricular septal defect-tetralogy of Fallot - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067 - Complete atrioventricular septal defect with ventricular hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070 - Aorto-right ventricular tunnel - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064 - Straddling and/or overriding mitral valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063 - Shone complex - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 - Congenital total pulmonary venous return anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 - Congenital pulmonary vein atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123 - Inferior vena cava interruption without azygos continuation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 - Congenital partial pulmonary venous return anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121 - Azygos continuation of the inferior vena cava - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122 - Congenital stenosis of the inferior vena cava - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119 - Right inferior vena cava connecting to left-sided atrium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120 - Persistent eustachian valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117 - Coronary sinus stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118 - Coronary sinus atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113 - Subaortic course of innominate vein - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114 - Agenesis of the superior vena cava - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111 - Persistent left superior vena cava connecting to the roof of left-sided atrium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112 - Absence of innominate vein - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110 - Right superior vena cava connecting to left-sided atrium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109 - Persistent left superior vena cava connecting through coronary sinus to left-sided atrium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107 - Atrial septal aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106 - Atrial septal defect, ostium primum type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105 - Atrial septal defect, sinus venosus type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104 - Atrial septal defect, coronary sinus type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103 - Atrial septal defect, ostium secundum type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99102 - Ectasia of the left atrial appendage - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99101 - Ectasia of the right atrial appendage - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99100 - Juxtaposition of the atrial appendages - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99099 - Cor triatriatum sinister - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99098 - Cor triatriatum dexter - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095 - Congenital Gerbode defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99147 - Acquired von Willebrand syndrome - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 592850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592850 - Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 592856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592856 - Neuromyelitis optica spectrum disorder with anti-MOG antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135 - 6-phosphogluconate dehydrogenase deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 592869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592869 - Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 - Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 592873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592873 - Acute transverse myelitis with anti-MOG antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99139 - Unstable hemoglobin disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 592894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592894 - Acute disseminated encephalomyelitis with anti-MOG antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 592900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592900 - Acute disseminated encephalomyelitis without anti-MOG antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99130 - Congenital partial agenesis of pericardium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99129 - Congenital complete agenesis of pericardium - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131 - Pleuro-pericardial cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 - 48,XYYY syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330 - 49,XYYYY syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324 - Paternal uniparental disomy of chromosome 13 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361 - Isolated familial medullary thyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177 - Isolated distichiasis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176 - Congenital eyelid retraction - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179 - Kandori fleck retina - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170 - Tarsal kink syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169 - Epiblepharon - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172 - Euryblepharon - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171 - Isolated congenital ectropion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657 - Primary dystonia, DYT2 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 - Complete androgen insensitivity syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642 - Spondyloepimetaphyseal dysplasia, Handigodu type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 99408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99408 - Pituitary adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646 - Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 99688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688 - Dermotrichic syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 592564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 - GNAO1-related developmental delay-seizures-movement disorder spectrum - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672 - Fried's tooth and nail syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 590539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590539 - Isolated melanotic schwannoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725 - Pituitary gigantism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589746 - Inherited gynecological cancer-predisposing syndrome - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 - Mesial temporal lobe epilepsy with hippocampal sclerosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 589905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99710 - Punctate acrokeratoderma freckle-like pigmentation - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 99750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 - Atypical progressive supranuclear palsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 - Kostmann syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99748 - Pontiac fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757 - Embryonal rhabdomyosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756 - Alveolar rhabdomyosarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 - Myotonia fluctuans - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 99735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 - Myotonia permanens - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 - Acetazolamide-responsive myotonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 - Amish lethal microcephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739 - Rare familial disorder with hypertrophic cardiomyopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 99745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99745 - Typhoid - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 98820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820 - Familial focal epilepsy with variable foci - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 - Familial temporal lobe epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818 - Landau-Kleffner syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816 - Childhood occipital visual epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815 - Self-limited epilepsy with autonomic seizures - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 - Hypohidrotic ectodermal dysplasia with immunodeficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 - Paroxysmal exertion-induced dyskinesia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 - Paroxysmal non-kinesigenic dyskinesia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 - Paroxysmal kinesigenic dyskinesia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 - Autosomal dominant dopa-responsive dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807 - Primary dystonia, DYT13 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838 - Primary mediastinal large B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835 - Acute undifferentiated leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833 - Acute myeloblastic leukemia without maturation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834 - Acute myeloblastic leukemia with maturation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831 - Acute myeloid leukemia with 11q23 abnormalities - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832 - Acute myeloid leukemia with minimal differentiation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829 - Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827 - Unclassified myelodysplastic syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825 - Unclassified myelodysplastic/myeloproliferative disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826 - Myelodysplastic neoplasm with low blasts - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823 - Chronic myelomonocytic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824 - Atypical chronic myeloid leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98852 - Desquamative interstitial pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 98851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851 - Mast cell leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 - Autosomal dominant Emery-Dreifuss muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98848 - Indolent systemic mastocytosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850 - Aggressive systemic mastocytosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849 - Systemic mastocytosis with associated hematologic neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844 - Classic Hodgkin lymphoma, mixed cellularity type - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843 - Classic Hodgkin lymphoma, nodular sclerosis type - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846 - Classic Hodgkin lymphoma, lymphocyte-depleted type - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845 - Classic Hodgkin lymphoma, lymphocyte-rich type - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839 - Intravascular large B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 - Lymphomatoid papulosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841 - Anaplastic large cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 589608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 589595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595 - Mixed phenotype acute leukemia with t(v;11q23.3) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868 - Southeast Asian ovalocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869 - Congenital dyserythropoietic anemia type I - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 589618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 - Dystonia 28 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870 - Congenital dyserythropoietic anemia type III - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 589534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534 - Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 - X-linked Emery-Dreifuss muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 - Spinocerebellar ataxia type 45 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 - GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542 - Myeloid/lymphoid neoplasm associated with JAK2 rearrangement - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 589522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 - Spinocerebellar ataxia type 46 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 589515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 - Autosomal recessive Emery-Dreifuss muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856 - Charcot-Marie-Tooth disease type 2B1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881 - Familial dysfibrinogenemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880 - Familial afibrinogenemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879 - Hemophilia B - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886 - Bleeding diathesis due to integrin alpha2-beta1 deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885 - Bleeding diathesis due to glycoprotein VI deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 - Congenital dyserythropoietic anemia type II - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872 - Primary acquired pure red cell aplasia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871 - Transient erythroblastopenia of childhood - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878 - Hemophilia A - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 - Becker muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 - Amish nemaline myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 - Bilateral perisylvian polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 - Early-onset X-linked optic atrophy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98888 - X-linked complex spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893 - Congenital muscular dystrophy type 1B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 - Periventricular nodular heterotopia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 - Late-onset distal myopathy, Markesbery-Griggs type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 - Distal myotilinopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 - Presynaptic congenital myasthenic syndromes - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 - Postsynaptic congenital myasthenic syndromes - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916 - Acute inflammatory demyelinating polyradiculoneuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 - Synaptic congenital myasthenic syndromes - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98918 - Acute motor axonal neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98917 - Acute motor and sensory axonal neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 - Congenital myopathy with excess of thin filaments - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 - Congenital multicore myopathy with external ophthalmoplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 - Neutral lipid storage disease with myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 98910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98910 - Alpha-crystallinopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 - Multiple system atrophy, parkinsonian type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 - Huntington disease-like 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98919 - Miller Fisher syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 - Spinal muscular atrophy with respiratory distress type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98922 - Blake pouch cyst - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 - Coloboma of choroid and retina - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938 - Colobomatous microphthalmia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949 - Complete cryptophthalmia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950 - Partial cryptophthalmia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947 - Coloboma of optic disc - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948 - Congenital symblepharon - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 - Coloboma of macula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946 - Coloboma of eyelid - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 - Coloboma of eye lens - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 - Coloboma of iris - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98958 - Climatic droplet keratopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957 - Gelatinous drop-like corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956 - Epithelial basement membrane dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955 - Lisch epithelial corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954 - Meesmann corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951 - Inverse Marcus-Gunn phenomenon - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964 - Lattice corneal dystrophy type I - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963 - Granular corneal dystrophy type II - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962 - Granular corneal dystrophy type I - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961 - Reis-Bücklers corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960 - Thiel-Behnke corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959 - Subepithelial mucinous corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971 - Posterior amorphous corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972 - Central cloudy dystrophy of François - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 - Posterior polymorphous corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974 - Fuchs endothelial corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967 - Schnyder corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969 - Macular corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970 - Fleck corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979 - Chandler syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980 - Cogan-Reese syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981 - Essential iris atrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976 - Congenital glaucoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977 - Juvenile glaucoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 - Axenfeld anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988 - Early-onset anterior polar cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990 - Coralliform cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 - Cerulean cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984 - Pulverulent cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985 - Early-onset sutural cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995 - Early-onset zonular cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992 - Early-onset partial cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991 - Early-onset nuclear cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994 - Total early-onset cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993 - Early-onset posterior polar cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001 - Butterfly-shaped pigment dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002 - Reticular dystrophy of the retinal pigment epithelium - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000 - Adult-onset foveomacular vitelliform dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003 - Multifocal pattern dystrophy simulating fundus flavimaculatus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99004 - Fundus pulverulentus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 - Spastic paraplegia type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 585867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585867 - Acute myeloid leukemia with t(9;22)(q34.1;q11.2) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 585877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877 - B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 585909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909 - B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 585936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936 - B-lymphoblastic leukemia/lymphoma with hyperdiploidy - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 585942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942 - B-lymphoblastic leukemia/lymphoma with hypodiploidy - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 585918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918 - B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 585929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929 - B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 - Adult-onset autosomal dominant leukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 585956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956 - B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 585948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948 - B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 586130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586130 - Sporadic fatal insomnia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042 - Congenitally uncorrected transposition of the great arteries with coarctation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043 - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045 - Double outlet right ventricle with subpulmonary ventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046 - Double outlet right ventricle with non-committed subpulmonary ventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 - Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050 - Abnormal origin of right or left pulmonary artery from the aorta - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99049 - Pulmonary artery coming from patent ductus arteriosus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 - Discrete fibromuscular subaortic stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 - Discrete fixed membranous subaortic stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 - Valvular pulmonary stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 - Tunnel subaortic stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056 - Parachute tricuspid valve - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055 - Congenital anomaly of the tricuspid valve chordae - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058 - Hypoplasia of the mitral valve annulus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057 - Congenital mitral stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060 - Congenital unguarded mitral orifice - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059 - Congenital supravalvular mitral ring - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062 - Mitral valve agenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99061 - Accessory mitral valve tissue - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609 - EEC syndrome and related disorders - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98610 - Rare disorder with conjunctival involvement as a major feature - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98602 - Rare disorder of the lacrimal apparatus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605 - Lacrimal drainage system anomaly - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606 - Syndromic orbital border hypoplasia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98604 - Congenital alacrima - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594 - Rare eyebrow/eyelash disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575 - Syndromic telecanthus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576 - Syndromic outer canthal malposition - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578 - Rare disorder with ptosis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567 - Rare eyelid malposition disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570 - Congenital ectropion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571 - Secondary ectropion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574 - Syndromic epicanthus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560 - Rare palpebral disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562 - Cryptophthalmia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561 - Congenital malformation of the eyelid - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564 - Eyelid border anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563 - Microblepharon-ablephara syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566 - Syndromic eyelid coloboma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565 - Syndromic ankyloblepharon filiforme adnatum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98553 - Developmental defect of the eye - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555 - Microphthalmia-anophthalmia-coloboma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557 - Syndromic aniridia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676 - Autosomal recessive isolated optic atrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 - Autosomal dominant optic atrophy, classic form - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98671 - Hereditary optic neuropathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672 - Autosomal dominant optic atrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98668 - Vitreoretinopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98661 - Syndromic rod-cone dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98658 - Color-vision disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655 - Lens shape anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653 - Lens position anomaly - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652 - Lens size anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98650 - Craniofacial anomaly with cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98649 - Dentocutaneous disease with cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98648 - Musculoskeletal disease with cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98644 - Metabolic disease with cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98646 - Renal disease with cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98639 - Rare lens disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98640 - Rare disorder with lens opacification - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98641 - Syndromic cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98642 - Chromosomal anomaly with cataract - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635 - Corneodysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98638 - Rare disease with glaucoma as a major feature - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631 - Congenital malformation of the eye with glaucoma as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634 - Anterior segment developmental anomaly without extraocular manifestations - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98628 - Syndromic corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98627 - Posterior corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98623 - Syndromic keratoconus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98626 - Stromal corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98625 - Superficial corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619 - Rare isolated myopia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98622 - Syndromic hyperopia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98621 - Rare hyperopia and astigmatism - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98618 - Rare refraction anomaly - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 98729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729 - Congenital pulmonary veins anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 583595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 - Serine biosynthesis pathway deficiency, infantile/juvenile form - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 98727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98727 - Rare atrial defect and interatrial communication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733 - Noonan syndrome and Noonan-related syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 98731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98731 - Congenital arteriovenous fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 583856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583856 - Isolated splenic vein thrombosis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 98738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98738 - Neurological muscular channelopathy due to a genetic sodium channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 583861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583861 - Isolated mesenteric vein thrombosis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 98737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98737 - Genetic neurological muscular channelopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98742 - Neurological muscular channelopathy due to a genetic ryanodine receptor defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98741 - Neurological muscular channelopathy due to a genetic potassium channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98740 - Neurological muscular channelopathy due to a genetic calcium channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98739 - Neurological muscular channelopathy due to a genetic chloride channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98717 - Transposition of the great arteries and conotruncal cardiac anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 - Aortic malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98715 - Uveitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98716 - Heart position anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98721 - Congenital tricuspid malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98722 - Atrioventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 - Pulmonary artery or pulmonary branch anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98720 - Atrioventricular valve anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725 - Ascending aorta anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98723 - Hypoplastic right heart syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724 - Congenital anomaly of the great arteries - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98706 - Oculocutaneous or ocular albinism - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98681 - Rare disorder with strabismus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98683 - Syndromic disorder with strabismus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98684 - Craniostenosis with strabismus - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98685 - Rare oculomotor nerve disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98686 - Congenital trochlear nerve palsy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98687 - Supranuclear eye movement disorder - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98688 - Oculomotor apraxia - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 583097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583097 - Congenital infiltrating lipomatosis of the face - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98798 - Isochromosomy Yq syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98797 - Isochromosomy Yp syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 - Angelman syndrome due to maternal 15q11q13 deletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 - Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806 - Primary dystonia, DYT6 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805 - Primary dystonia, DYT4 type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 - Sleep-related hypermotor epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27A - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 - Spinocerebellar ataxia type 14 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 - Spinocerebellar ataxia type 5 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 - Spinocerebellar ataxia type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 - Spinocerebellar ataxia type 8 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 - Spinocerebellar ataxia type 17 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 - Spinocerebellar ataxia type 12 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 - Spinocerebellar ataxia type 10 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 - Spinocerebellar ataxia type 19/22 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 - Spinocerebellar ataxia type 18 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 - Spinocerebellar ataxia type 21 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 - Spinocerebellar ataxia type 13 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 - Spinocerebellar ataxia type 11 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 - Spinocerebellar ataxia type 15/16 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98747 - Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98748 - Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98749 - Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 580951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580951 - Punctate inner choroidopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 98750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98750 - Autoimmune neurological channelopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98743 - Genetic neurological channelopathy of the central nervous system - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98744 - Neurological channelopathy of the central nervous system due to a genetic sodium channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 580933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 - Lethal brain and heart developmental defects - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98745 - Neurological channelopathy of the central nervous system due to a genetic calcium channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98746 - Neurological channelopathy of the central nervous system due to a genetic potassium channel defect - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 - Spinocerebellar ataxia type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 - Spinocerebellar ataxia type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 - Spinocerebellar ataxia type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 - Spinocerebellar ataxia type 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 581271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271 - Cramp-fasciculation syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98352 - Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 98353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98353 - Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 98356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98356 - Autosomal recessive isolated diffuse palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 98357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98357 - Autosomal recessive disease with focal palmoplantar keratoderma as a major feature - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 98343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98343 - Male infertility due to obstructive azoospermia - - - - 98047 - Rare infertility - - - - Preferential parent - - - - - - 580572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580572 - Intraductal tubulopapillary neoplasm of pancreas - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 98349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98349 - Autosomal dominant isolated diffuse palmoplantar keratoderma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 98306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306 - Familial partial lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 98305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305 - Genetic lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 98307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98307 - Acquired lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 98301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98301 - Laminopathy - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 98300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98300 - Idiopathic interstitial pneumonia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 98313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98313 - Male infertility due to gonadal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 576232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 - Partial atrioventricular septal defect with ventricular hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 576235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 - Partial atrioventricular septal defect without ventricular hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 576227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 - Complete atrioventricular septal defect without ventricular hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98396 - Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 576074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576074 - Middle East respiratory syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 575553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 - Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421 - Primary acquired red cell aplasia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 576742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576742 - Genetic hemolytic uremic syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 98415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98415 - Vitamin B12- and folate-independent constitutional megaloblastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 576379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576379 - Iatrogenic Creutzfeldt-Jakob disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 576356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576356 - Sporadic human prion disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 576349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349 - NLRC4-related familial cold autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 576370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576370 - Variant Creutzfeldt-Jakob disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 576360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576360 - Acquired human prion disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 576242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576242 - Intermediate atrioventricular septal defect - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98408 - Constitutional megaloblastic anemia due to folate metabolism disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 576283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 - SATB2-associated syndrome due to a pathogenic variant - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 576278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 - SATB2-associated syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 573163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573163 - Pheochromocytoma-paraganglioma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 98374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98374 - Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 573253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 - Split cord malformation type II - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98372 - Hemolytic anemia due to a disorder of glycolytic enzymes - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98370 - Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98369 - Rare constitutional hemolytic anemia due to an enzyme disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98366 - Constitutional hemolytic anemia due to acanthocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98365 - Hereditary stomatocytosis - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98364 - Rare constitutional hemolytic anemia due to a red cell membrane anomaly - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98363 - Rare hemolytic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98362 - Constitutional sideroblastic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98360 - Constitutional anemia due to iron metabolism disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 574957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957 - Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 574918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574918 - Predisposition to severe viral infection due to IRF7 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 98375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98375 - Autoimmune hemolytic anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 573278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 - Split cord malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98455 - Alpha granule disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98456 - Dense granule disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98472 - Skeletal muscle disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98473 - Muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98482 - Idiopathic inflammatory myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98486 - Metabolic myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 572385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385 - Brachydactyly type B1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 572361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98429 - Rare coagulation disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98427 - Polycythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 98428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428 - Secondary polycythemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 572428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428 - Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 98434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 - Hereditary combined deficiency of vitamin K-dependent clotting factors - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 572543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 - RFVT2-related riboflavin transporter deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 572550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 - RFVT3-related riboflavin transporter deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 572798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 - WARS2-related combined oxidative phosphorylation defect - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 - Non-syndromic pontocerebellar hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98519 - Posterior fossa malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98534 - Neurodegenerative disease with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540 - Late-onset ataxia with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539 - Early-onset ataxia with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 572013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98542 - Infectious disease with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98535 - Frontotemporal degeneration with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538 - Ataxia with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 572354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98549 - Rare cerebrovascular dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98544 - Cerebral lipidosis with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98543 - Metabolic disease with dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 570762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570762 - Infective endocarditis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 98494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98494 - Acquired neuromuscular junction disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 570491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 - QRSL1-related combined oxidative phosphorylation defect - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 98491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98491 - Neuromuscular junction disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 570470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570470 - Ricin poisoning - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 570438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438 - HHV-8-associated multicentric Castleman disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 570431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431 - Idiopathic multicentric Castleman disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 570422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 - Galactose mutarotase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 570371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371 - Bartter syndrome type 5 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 98497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98497 - Genetic peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98495 - Genetic neuromuscular junction disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98496 - Rare peripheral neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98506 - Acquired motor neuron disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98505 - Genetic motor neuron disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98503 - Motor neuron disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 98518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518 - Cranial nerve and nuclear aplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98516 - Malformation of the cerebellar hemispheres - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 98514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98514 - Malformation of the cerebellar vermis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 694963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694963 - Inflammatory breast cancer - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 694946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 - Alazami-Yuan syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 694956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 - Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 695020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695020 - Urachal carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 694356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694356 - ADAR-related hereditary spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 694937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 694922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 693912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693912 - EPHB4-related capillary malformation-arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 693907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693907 - RASA1-related capillary malformation-arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 694308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694308 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 694304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694304 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 694228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694228 - Congenital intrahepatic arterioportal fistula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 693872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693872 - Urinary tract arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 117573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573 - Syndromic anorectal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 693869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693869 - Gallblader arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 695783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 - EDEM3-CDG - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 695807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 - Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 696063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696063 - PLIN4-related distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 696078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696078 - Central Giant Cell Granuloma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 696175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696175 - Encapsulating peritoneal sclerosis - - - - 165711 - Rare abdominal surgical disease - - - - Preferential parent - - - - - - 695164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695164 - Combined immunodeficiency with low B cells - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 695147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695147 - Sickle cell-beta plus-thalassemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 695183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695183 - Late-onset combined immunodeficiency due to ICOS deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 695172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695172 - Combined immunodeficiency due to dimerization defective IKAROS mutation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 695611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695611 - 3q26q28 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 695191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695191 - Late-onset combined immunodeficiency due to ICOSL deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 695631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695631 - Primary vitreoretinal large B-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 695032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695032 - Giant omphalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 695023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695023 - Pure squamous carcinoma of the urothelial tract - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 695038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695038 - Small omphalocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 695131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695131 - Acinar cystic transformation of the pancreas - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 695110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 - MAN2B2-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 695140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695140 - Sickle cell-beta zero-thalassemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 695136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695136 - Infant-type hemispheric glioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 104077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 - Myopathic intestinal pseudoobstruction - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 697091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697091 - Emergomycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 697096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697096 - Cryptosporidiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 104076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076 - Leiomyosarcoma of small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 104075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075 - Adenocarcinoma of the small intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 104013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013 - Metabolic disease with intestinal involvement - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 104012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104012 - Rare inflammatory bowel disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 104011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011 - Rare tumor of intestine - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 697053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697053 - Talaromycosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 104010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 - Intestinal polyposis syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 104009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 - Rare disease involving intestinal motility - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 697067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697067 - Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 696942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696942 - Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 104008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008 - Short bowel syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696945 - X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 104007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 - Congenital enteropathy involving intestinal mucosa development - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696931 - Common variable immunodeficiency phenotype due to TWEAK deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 104006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006 - Congenital intestinal disease due to an enzymatic defect - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 104005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104005 - Intestinal disease due to fat malabsorption - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 104004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004 - Intestinal disease due to vitamin absorption anomaly - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696925 - Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 104003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 - Congenital intestinal transport defect - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 103920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103920 - Undetermined colitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 103919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103919 - Autoimmune pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696907 - Common variable immunodeficiency phenotype due to homozygous TACI deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 103918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918 - Tropical pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696904 - Common variable immunodeficiency phenotype due to IRF2BP2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 696897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696897 - Congenital megaprepuce - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 696894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696894 - Common variable immunodeficiency phenotype due to CD21 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 103910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 - Congenital enterocyte heparan sulfate deficiency - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 103908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 - Congenital sodium diarrhea - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696881 - Common variable immunodeficiency phenotype due to CD19/CD81 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 103909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 - Trehalase deficiency - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696874 - NFKB1-related immune dysregulation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 696870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696870 - Common variable immunodeficiency phenotype due to germinal monogenic mutation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 103907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 - Chronic diarrhea due to glucoamylase deficiency - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 696863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696863 - Common variable immunodeficiency phenotype due to somatic mutations - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 696857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696857 - Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 102724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724 - Acute myeloid leukemia with t(8;21)(q22;q22) translocation - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 696851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696851 - Common variable immunodeficiency and related disorders - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 102379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379 - Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 102381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381 - Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 696830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696830 - Female adnexal tumor of probable Wolffian origin - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 698043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698043 - Fibromuscular dysplasia of the renal arteries - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 109011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109011 - Non-syndromic limb malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 698059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698059 - Fibromuscular dysplasia of the coronary arteries - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 109009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009 - Syndrome with limb malformations as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 698063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698063 - Fibromuscular dysplasia of the visceral arteries - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 117569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117569 - Rare intestinal disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 698069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698069 - Fibromuscular dysplasia of the arteries of the extremities - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 698005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698005 - Epilepsy with generalized tonic-clonic seizures alone - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 698012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698012 - Fibromuscular dysplasia - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 109007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109007 - Arthrogryposis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 698036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698036 - Fibromuscular dysplasia of the cervical and intracranial arteries - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 108995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108995 - Syndromic respiratory or mediastinal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993 - Non-syndromic respiratory or mediastinal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108999 - Rare disorder due to toxic effects - - - - - 31824 - Colchicine poisoning - - - Preferential parent - - - - - - 31825 - Methanol poisoning - - - Preferential parent - - - - - - 31826 - Ethylene glycol poisoning - - - Preferential parent - - - - - - 31827 - Paraquat poisoning - - - Preferential parent - - - - - - 31828 - Digitalis poisoning - - - Preferential parent - - - - - - 35889 - Acute opioid intoxication - - - Preferential parent - - - - - - 43117 - Acute tricyclic antidepressant poisoning - - - Preferential parent - - - - - - 43119 - Acute poisoning by drugs with membrane-stabilizing effect - - - Preferential parent - - - - - - 60014 - Argyria - - - Preferential parent - - - - - - 73423 - Acute ackee fruit intoxication - - - Preferential parent - - - - - - 90068 - Cocaine intoxication - - - Preferential parent - - - - - - 90069 - Systemic monochloroacetate poisoning - - - Preferential parent - - - - - - 217064 - 5-fluorouracil poisoning - - - Preferential parent - - - - - - 227972 - Toxic oil syndrome - - - Preferential parent - - - - - - 247165 - Infantile mercury poisoning - - - Preferential parent - - - - - - 293807 - Ketamine-induced biliary dilatation - - - Preferential parent - - - - - - 306640 - Rare intoxication due to medical products - - - Preferential parent - - - - - - 330015 - Lead poisoning - - - Preferential parent - - - - - - 330021 - Mercury poisoning - - - Preferential parent - - - - - - 449285 - Snakebite envenomation - - - Preferential parent - - - - - - 454831 - Acute radiation syndrome - - - Preferential parent - - - - - - 464458 - Paracetamol poisoning - - - Preferential parent - - - - - - 466670 - Cyanide poisoning - - - Preferential parent - - - - - - 466677 - Scorpion envenomation - - - Preferential parent - - - - - - 521132 - Radiation-induced disorder - - - Preferential parent - - - - - - 529831 - Letrozole toxicity - - - Preferential parent - - - - - - 556508 - Rare disorder due to poisoning - - - Preferential parent - - - - - - 565782 - Methotrexate toxicity - - - Preferential parent - - - - - - 108997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108997 - Rare anemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 697760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697760 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 697764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697764 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 697986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697986 - Congenital peritoneal encapsulation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108991 - Syndrome with a central nervous system malformation as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108989 - Non-syndromic central nervous system malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108977 - Non-syndromic diaphragmatic or abdominal wall malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 697414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697414 - Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 108979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108979 - Syndromic diaphragmatic or abdominal wall malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 697734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697734 - ST3GAL3-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 697417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697417 - Common variable immunodeficiency phenotype due to SEC61A1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 108969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969 - Syndromic intestinal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971 - Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 697394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697394 - Combined immunodeficiency due to c-REL deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 697403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697403 - Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 108973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108973 - Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961 - Syndromic esophageal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 697356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 - Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 108963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108963 - Non-syndromic gastroduodenal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 108965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108965 - Syndromic gastroduodenal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 697389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697389 - Combined immunodeficiency due to HELIOS deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 697385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697385 - Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 108967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967 - Non-syndromic intestinal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 104078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 - Unclassified intestinal pseudoobstruction - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 697132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697132 - Lymphoepithelial cyst of the pancreas - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 697101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697101 - Fontaine progeroid syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 697160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697160 - Infantile epileptic spasms syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 108959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108959 - Non-syndromic esophageal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 699593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699593 - Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101995 - Periodic fever syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 699590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699590 - Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101992 - Immunodeficiency due to a complement cascade protein anomaly - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 699578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699578 - Combined immunodeficiency with low Ig due to BCL10 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101998 - Rare epilepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699605 - NEMO deleted exon 5 autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 699599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699599 - ICHAD syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 699596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699596 - Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101997 - Primary immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 699645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699645 - Variable age-onset epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102002 - Rare ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102003 - Rare movement disorder - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699618 - Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 102000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102000 - Medullar disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699615 - Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 102006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102006 - Neurovascular malformation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699683 - Fibro-adipose vascular anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 699678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699678 - Necrotizing cellulitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 102005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102005 - Brain inflammatory disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 698260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698260 - Carotid web - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101977 - Immunodeficiency predominantly affecting antibody production - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 698085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698085 - Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 698090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698090 - Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 698914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698914 - Platelet-activating anti-platelet factor 4 disorder - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 698945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698945 - Autoimmune heparin-induced thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 699057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699057 - Annular erythema of infancy - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 101987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987 - Congenital neutropenia - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 699021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699021 - Spontaneous heparin-induced thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 101985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101985 - Quantitative and/or qualitative congenital phagocyte defect - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 699029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699029 - Vaccine-induced immune thrombotic thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 699068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699068 - Fontan-associated liver disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 101988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101988 - Primary immunodeficiency due to a defect in innate immunity - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 699835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699835 - Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 102024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102024 - Human herpesvirus 8-related disorder - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 699822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699822 - Sickle cell S-Lepore disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 699850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699850 - 2p25.3 microduplication syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 - Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 700085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700085 - Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 102237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102237 - Unexplained periodic fever syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 700090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700090 - Sickle cell S-O Arab disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 700111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700111 - Homozygous hemoglobin O Arab disease - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 700107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700107 - Sickle cell S-other specified hemoglobin variant - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 102283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283 - Multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 700133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700133 - Idiopathic chronic pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 700124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700124 - Autosomal recessive hereditary chronic pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 102285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285 - Multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 102369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102369 - Rare syndromic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700139 - Late-onset idiopathic chronic pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 700136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700136 - Early-onset idiopathic chronic pancreatitis - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 102009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 - Classic lissencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 699697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699697 - Necrotizing fasciitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 699702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699702 - Necrotizing myositis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 102011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 - Lissencephaly type 3 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 - Other syndrome with lissencephaly as a major feature - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 102013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102013 - Complex hereditary spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102012 - Pure hereditary spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102015 - Autosomal recessive limb-girdle muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102014 - Autosomal dominant limb-girdle muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102021 - Rickettsial disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 102020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102020 - Autosomal monosomy syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102023 - Typhus-group rickettsiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 102022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102022 - Spotted fever rickettsiosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 101934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934 - Genetic cardiac rhythm disease - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 700508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700508 - Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932 - Anomaly of the mitral subvalvular apparatus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 - Rare non-syndromic intellectual disability - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101943 - Rare hepatic and biliary tract tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 101940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101940 - Rare metabolic liver disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 101941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101941 - Rare biliary tract disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 101938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101938 - Rare vascular liver disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 101939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101939 - Rare parenchymal liver disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 101936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101936 - Rare gastroesophageal disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 101937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101937 - Rare pancreatic disease - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 700188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700188 - Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 - Familial isolated congenital asplenia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 700170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 - Asymetric thumb-handgrip weakness-distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 - ADNP-related blepharophimosis-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 700163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700163 - SMPX-related distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700143 - X-linked distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700154 - TARDBP-related predominantly upper-limb distal myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101435 - Rare genetic eye disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 - Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101433 - Rare urogenital disease - - - - - 2795 - Fowler urethral sphincter dysfunction syndrome - - - Preferential parent - - - - - - 617 - Congenital primary megaureter - - - Preferential parent - - - - - - 37202 - Interstitial cystitis - - - Preferential parent - - - - - - 84085 - Hinman syndrome - - - Preferential parent - - - - - - 140949 - Low-flow priapism - - - Preferential parent - - - - - - 156619 - Rare genetic urogenital disease - - - Preferential parent - - - - - - 238637 - Megacystis-megaureter syndrome - - - Preferential parent - - - - - - 238642 - Primary megaureter, adult-onset form - - - Preferential parent - - - - - - 238646 - Congenital primary megaureter, obstructed form - - - Preferential parent - - - - - - 238650 - Congenital primary megaureter, refluxing form - - - Preferential parent - - - - - - 238654 - Congenital primary megaureter, nonrefluxing and unobstructed form - - - Preferential parent - - - - - - 289365 - Familial vesicoureteral reflux - - - Preferential parent - - - - - - 544578 - Congenital primary megaureter, refluxing and obstructed form - - - Preferential parent - - - - - - 692256 - Isolated anogenital granulomatosis - - - Preferential parent - - - - - - 700336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 - Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 700325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700325 - NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 700205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700205 - Combined immunodeficiency due to IKBKB gain-of-function mutation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 700286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700286 - Congenital high airway obstruction syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101960 - Genetic chronic primary adrenal insufficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101963 - Acquired chronic primary adrenal insufficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101972 - Combined T and B cell immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101950 - Rare eye tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 101945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101945 - Rare bronchopulmonary and pleural cavity tumors - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 101944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101944 - Rare pulmonary disease - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 101957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101957 - Pituitary deficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101956 - Polyendocrinopathy - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101959 - Chronic primary adrenal insufficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101958 - Primary adrenal insufficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953 - Rare dyslipidemia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101952 - Rare diabetes mellitus - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101955 - Rare thyroid disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101954 - Rare adrenal disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 664511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 - Hermansky-Pudlak syndrome due to AP3B1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 664482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664482 - Primary hemophagocytic lymphohistiocytosis without hypopigmentation - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 - Spinocerebellar ataxia type 25 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 - Spinocerebellar ataxia type 26 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664456 - Immune dysregulation disease with immunodeficiency associated with EBV susceptibility - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 - Spinocerebellar ataxia type 28 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664450 - Inherited cancer-predisposing lymphoproliferative syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 664438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 - Spinocerebellar ataxia type 20 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 - Spinocerebellar ataxia type 23 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664430 - Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 664416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 664410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664410 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 665058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665058 - Common arterial trunk with pulmonary dominance and interrupted aortic arch - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 667589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667589 - Isolated congenital femoral bifurcation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 665044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665044 - Common arterial trunk with aortic dominance - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101334 - African tick typhus - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 664912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664912 - Neonatal renal venous thrombosis - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 664923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 - Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 664787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664787 - Nicolau syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 101330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 - Porphyria cutanea tarda - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 664901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664901 - Trigeminal trophic syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664729 - EBV-induced lymphoproliferative disease due to TET2 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 664734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664734 - EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 664726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664726 - EBV-induced lymphoproliferative disease due to CD137 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 664711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664711 - EBV-induced lymphoproliferative disease due to PRKCD deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 664699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664699 - EBV-induced lymphoproliferative disease due to RASGRP1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 662473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662473 - Isolated duodenal duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 - Charcot-Marie-Tooth disease type 1F - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 662456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662456 - Isolated small intestine duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662721 - Placenta accreta spectrum disorder - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 662480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662480 - Isolated jejuno-ileal duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 - X-linked hyper-IgM syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 662388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662388 - Isolated gallbladder duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 - Charcot-Marie-Tooth disease type 1A - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 662376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662376 - Isolated gastric duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 - Charcot-Marie-Tooth disease type 1B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 662405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662405 - Isolated pyloric duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083 - Charcot-Marie-Tooth disease type 1C - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 662392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662392 - Isolated colonic duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084 - Charcot-Marie-Tooth disease type 1D - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 662240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662240 - Frey syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 - X-linked Charcot-Marie-Tooth disease type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 - X-linked Charcot-Marie-Tooth disease type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 662234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662234 - Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 - NESCAV syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 662255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662255 - Grisel syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 662207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 - Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662229 - Episodic memory defect leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 - X-linked Charcot-Marie-Tooth disease type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 - X-linked Charcot-Marie-Tooth disease type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664377 - MGP-related spondyloepiphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 101102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 - Charcot-Marie-Tooth disease type 2H - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 - Charcot-Marie-Tooth disease type 2B2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 - 6q25.1 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104 - Marin-Amat syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 101097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 - Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 664372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664372 - Soft and hard cleft palate - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 - Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 - Hyper-IgM syndrome type 3 - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 662786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662786 - Vasa previa - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 101089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 - Hyper-IgM syndrome type 2 - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 662829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 - Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 - Hyper-IgM syndrome type 5 - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 662934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662934 - Acute megakaryoblastic leukemia in adult - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 101091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091 - Hyper-IgM syndrome type 4 - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 675362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675362 - Hobnail hemangioma - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 675359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675359 - Anastomosing haemangioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 - Spinocerebellar ataxia type 27B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 - Familial hypocalciuric hypercalcemia type 2 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 101050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 - Familial hypocalciuric hypercalcemia type 3 - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 674968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674968 - Bilateral diffuse uveal melanocytic proliferation disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 675380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675380 - Isolated segmental infantile hemangioma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 675369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675369 - Microvenular haemangioma - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 101043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 - Congenital aortic valve dysplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 674943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674943 - Isolated angioid streaks - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 674935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674935 - Torpedo Maculopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 674930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674930 - Perifoveal exudative vascular anomalous complex - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 101041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 - Familial hypofibrinogenemia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 674924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674924 - Isolated retinal racemose hemangioma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 674965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674965 - Choroidal osteoma - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 674958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674958 - Stellate multiform amelanotic choroidopathy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 674953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674953 - Multiple evanescent white dot syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 674947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674947 - Diffuse unilateral subacute neuroretinitis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 101046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 - Epilepsy with auditory features - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068 - Congenital stromal corneal dystrophy - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 675767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675767 - Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 - Unilateral hemispheric polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 - Bilateral frontoparietal polymicrogyria - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 675597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675597 - Acquired elastotic haemangioma - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 675396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675396 - Epithelioid hemangioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675404 - May-Thurner syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 675628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675628 - TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 - Situs inversus totalis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 667678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667678 - Intraoral basal cell carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 667662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667662 - Breast implant-associated anaplastic large cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 672979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672979 - Craniosynostosis-facial dysmorphism-brachydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 673466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673466 - Malignant vascular tumor - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 672985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672985 - Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023 - Cleft hard palate - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 673473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673473 - Borderline vascular tumor - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 673470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673470 - Benign vascular tumor - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 101009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 - Autosomal dominant spastic paraplegia type 29 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 - Autosomal spastic paraplegia type 30 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 - Autosomal dominant spastic paraplegia type 31 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 - Romano-Ward syndrome - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 673580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673580 - Classic pilocytic astrocytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 673585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673585 - Pilocytic astrocytoma with histological features of anaplasia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 674499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674499 - Proteoglycan-related bone disorder - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 674648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674648 - Syndrome with congenital phagocyte functional defect as a major feature - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 674653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 - Actinomyopathy-associated syndromic thrombocytopenia - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 674762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 - Early-onset autoinflammatory syndrome due to A20 haploinsufficiency - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 674896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674896 - Non-syndromic congenital phagocyte functional defect - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039 - Female restricted epilepsy with intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 673525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673525 - Intravascular papillary endothelial hyperplasia - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 673538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673538 - Littoral cell hemangioma of the spleen - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 101028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 - Transaldolase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 673543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673543 - Papillary hemangioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 101030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 - Subependymal nodular heterotopia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 - Sub-cortical nodular heterotopia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 673556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673556 - Pseudomyogenic hemangioendothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 673568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673568 - Eccrine angiomatous hamartoma - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 673574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673574 - Reactive angioendotheliomatosis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 - Autosomal dominant spastic paraplegia type 3 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 685067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 - Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 685082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685082 - Pediatric acute respiratory distress syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 685017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 - Combined immunodeficiency due to TBX1 deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100982 - Autosomal recessive pure spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100981 - Autosomal recessive complex spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 685004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685004 - Primary pericardial mesothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980 - Autosomal dominant pure spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 685010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685010 - Mesothelioma of the tunica vaginalis - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979 - Autosomal dominant complex spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978 - Cloverleaf skull-asphyxiating thoracic dysplasia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 684757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684757 - Malformation of the anal canal and the rectum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 686468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686468 - Post 5-alpha-reductase inhibitors treatment syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 686475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686475 - Post-selective serotonin reuptake inhibitor sexual dysfunction - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 - Autosomal dominant spastic paraplegia type 10 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 686462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686462 - Non-fibrotic hypersensitivity pneumonitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 686465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686465 - Fibrotic hypersensitivity pneumonitis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 100989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 - Autosomal dominant spastic paraplegia type 8 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 - Autosomal dominant spastic paraplegia type 6 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 - Autosomal recessive spastic paraplegia type 5A - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 - Autosomal dominant spastic paraplegia type 4 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 687424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 - Autosomal dominant spastic paraplegia type 19 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 - Autosomal recessive spastic paraplegia type 20 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 686999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 - Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 - X-linked spastic paraplegia type 16 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 686556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686556 - Isolated congenital cholesteatoma of the middle ear - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 - Autosomal dominant spastic paraplegia type 17 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995 - Autosomal recessive spastic paraplegia type 14 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 686495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 - MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 - Autosomal recessive spastic paraplegia type 15 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 686488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 - RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 - Autosomal dominant spastic paraplegia type 12 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 686482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 - BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 - Autosomal dominant spastic paraplegia type 13 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 688563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688563 - Combined immunodeficiency with normal Ig and poor specific antibody response - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 - Autosomal recessive spastic paraplegia type 27 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 688543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 - Reticular dysgenesis-like severe combined immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 101008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 - Autosomal recessive spastic paraplegia type 28 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 688523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688523 - Splenic venous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 101005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 - Autosomal recessive spastic paraplegia type 25 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 101006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 - Autosomal recessive spastic paraplegia type 26 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 687741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 - Multisystem Langerhans cell histiocytosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 687738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 - Single-system multifocal Langerhans cell histiocytosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 101003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 - Autosomal recessive spastic paraplegia type 23 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 687733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 - Pulmonary Langerhans cell histiocytosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 101004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 - Autosomal recessive spastic paraplegia type 24 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 687730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 - Unifocal Langerhans cell histiocytosis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 101001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 - Autosomal recessive spastic paraplegia type 21 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 687695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 - 10p13-p14 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 675822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675822 - Well-differentiated papillary mesothelial tumour of the pleura - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100088 - Rare thyroid carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675833 - Localized pleural mesothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675837 - Diffused pleural mesothelioma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100091 - Adrenal/paraganglial tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675841 - Pleural mesothelioma in situ - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100090 - Rare parathyroid tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085 - Primary hepatic neuroendocrine carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 - Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084 - Middle ear neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 - Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100087 - Rare thyroid tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 675814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675814 - Adenomatoid tumour of the pleura - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086 - Gallbladder neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 676039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676039 - Combined immunodeficiency due to FOXN1 haploinsufficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 100101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100101 - Neuroendocrine tumor with other location - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100100 - Thymic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 676125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 - X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 675976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675976 - Adenomatoid tumour of the peritoneum - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093 - Carcinoid syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 676030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676030 - Primary benign peritoneal tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100092 - Gastroenteropancreatic neuroendocrine neoplasm - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 676033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676033 - Well-differentiated papillary mesothelial tumour of the peritoneum - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 676036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676036 - Peritoneal mesothelioma in situ - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094 - Multiple polyglandular tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 684216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 - Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 684305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 - Neurooculocardiogenitourinary syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 - FRAXE intellectual disability - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 - FRAXF syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 684290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684290 - Hypertrophic olivary degeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 684752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684752 - Isolated anal canal duplication - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 684742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 - 2q13 microdeletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 - Bathing suit ichthyosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 684232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 - Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 684226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 - Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 684247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684247 - Isolated growth hormone deficiency type IV - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 684240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054 - F12-related hereditary angioedema with normal C1Inh - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 100051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051 - Hereditary angioedema type 2 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 100057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057 - Renin-angiotensin-aldosterone system-blocker-induced angioedema - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 692173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692173 - Marbach-Schaaf neurodevelopmental syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100056 - Acquired angioedema type 1 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 100055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100055 - Acquired angioedema type 2 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 692271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692271 - Cerebral proliferative angiopathy - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 692296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 - Idiopathic triglyceride deposit cardiomyovasculopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 692193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692193 - CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 692256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692256 - Isolated anogenital granulomatosis - - - - 101433 - Rare urogenital disease - - - - Preferential parent - - - - - - 692812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 - RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 693549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 - Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 692305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 - Triglyceride deposit cardiomyovasculopathy - - - - 97929 - Rare cardiac disease - - - - Preferential parent - - - - - - 692790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 - ATP6AP1-CDG - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 100069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 - Semantic dementia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 693627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693627 - Agammaglobulinemia-skin involvement-failure to thrive syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 100070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 - Progressive non-fluent aphasia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100067 - Waterhouse-Friderichsen syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 693681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693681 - Activated PI3K-delta syndrome 2 - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 100073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100073 - Neurogenic thoracic outlet syndrome - - - - 97962 - Rare surgical thoracic disease - - - - Preferential parent - - - - - - 100075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075 - Neuroendocrine tumor of stomach - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 693661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693661 - Activated PI3K-delta syndrome 1 - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 100071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071 - Mosaic trisomy 3 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 693647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 - Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 100078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078 - Ileal neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 693832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693832 - Gastrointestinal tract arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 693826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826 - Pancreatic arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079 - Neuroendocrine neoplasm of appendix - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 693815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693815 - Uterine arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076 - Duodenal neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 693802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693802 - Neonatal-infantile onset epilepsy syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077 - Jejunal neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082 - Neuroendocrine tumor of anal canal - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 693863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863 - Splenic arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 693855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693855 - Visceral arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083 - Laryngeal neuroendocrine tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080 - Neuroendocrine tumor of the colon - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 693846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693846 - Hepatic arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 693839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693839 - Renal arteriovenous malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081 - Neuroendocrine tumor of the rectum - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 688571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688571 - Combined immunodeficiency with low immunoglobulins - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 100020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020 - Myelodysplastic neoplasm with increased blasts type 2 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019 - Myelodysplastic neoplasm with increased blasts type 1 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 688581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 688594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 - Combined immunodeficiency due to RELB deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 100022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022 - Extramedullary soft tissue plasmacytoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 688642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 - Turnpenny-Fry syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021 - Primary plasmacytoma of the bone - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024 - Mu-heavy chain disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 688649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688649 - Isolated adrenal medullary hyperplasia - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 100026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026 - Gamma-heavy chain disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 100025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025 - Alpha-heavy chain disease - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 688995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688995 - Scarlet fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 689001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689001 - Isolated spontaneous cervical artery dissection - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 689021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689021 - Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 - Hypocalcified amelogenesis imperfecta - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 100031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031 - Hypoplastic amelogenesis imperfecta - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 100034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 - Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 100033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 - Hypomaturation amelogenesis imperfecta - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 689231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689231 - IFIH1-related hereditary spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100035 - Solitary necrotic nodule of the liver - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 689234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689234 - RNASEH2B-related hereditary spastic paraplegia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 689401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689401 - Acquired hypothalamic obesity - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 689397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 - Poirier-Bienvenu neurodevelopmental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 689408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 - Shashi-Pena syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 689430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689430 - Adenoid ameloblastoma - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 689422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689422 - Okur-Chung neurodevelopmental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 689829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 689822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 - Structural heart defects-renal anomalies syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047 - Isolated esophageal duplication cyst - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048 - Isolated tubular duplication of the esophagus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049 - Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 100050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050 - Hereditary angioedema type 1 - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 100016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 - Lissencephaly with cerebellar hypoplasia type F - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 - Lissencephaly with cerebellar hypoplasia type E - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 647667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 - Mandibuloacral dysplasia associated to MTX2 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 647676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676 - Multiple epiphyseal dysplasia type 7 - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 646113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113 - Intermediate collagen VI-related muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 - Lissencephaly with cerebellar hypoplasia type B - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 646136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136 - Dysplastic cortical hyperostosis, Al-Gazali type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 100011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 - Lissencephaly with cerebellar hypoplasia type A - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 646139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139 - Dysplastic cortical hyperostosis - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 100014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 - Lissencephaly with cerebellar hypoplasia type D - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 646278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 - CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 - Lissencephaly with cerebellar hypoplasia type C - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645854 - Multifocal tuberculosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 100008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 - ACys amyloidosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645859 - Primary tuberculosis of the digestive system - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 645874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645874 - Primary genito-urinary tuberculosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 646098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646098 - Collagen VI-related congenital muscular dystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645807 - Primary tuberculous lymphadenitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 645814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645814 - Primary pulmonary tuberculosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 100003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100003 - Intraneural perineurioma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645822 - Primary bone and joint tuberculosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 100006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 - ABeta amyloidosis, Dutch type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645849 - Primary cutaneous tuberculosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 645749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645749 - Congenital esophageal stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 100000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100000 - Reticular perineurioma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645793 - Spontaneous intestinal perforation - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 100001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100001 - Sclerosing perineurioma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 100002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100002 - Extraneural perineurioma - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617 - Amyopathic dermatomyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 99995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99995 - Complex regional pain syndrome type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613 - Classical dermatomyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 645626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626 - Adermatopathic dermatomyositis - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 645393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645393 - Hemi-myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99991 - Relapsing epidemic typhus - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 645388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 - Hemi-myelomeningocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645401 - True myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645398 - Myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99994 - Complex regional pain syndrome type 2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 - Conus spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 - Dorsal spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 - True myelomeningocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 - Intermediate DEND syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99990 - Brill-Zinsser disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 645354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 - Saccular limited dorsal myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645359 - Intramedullary non-dysraphic spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645343 - Non-saccular limited dorsal myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645350 - Segmental arterial mediolysis - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 99983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99983 - Cutaneous myiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 - Non-terminal myelocystocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99981 - Apnea of prematurity - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 645325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325 - Isolated filum lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 - Retained medullary cord - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 - Saccular spinal dysraphism with a stalk to the dome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978 - Perihilar cholangiocarcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645322 - Isolated transitional filum lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977 - Squamous cell carcinoma of the esophagus - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645300 - Lipomatous non-saccular limited dorsal myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976 - Adenocarcinoma of the oesophagus and oesophagogastric junction - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645310 - Fibroneural non-saccular limited dorsal myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 - Posterior extramedullary conus spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 - Extramedullary conus spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 - Terminal extramedullary conus spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 - Transitional extramedullary conus spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971 - Well-differentiated liposarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 - Chaotic conus spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99969 - Pleomorphic liposarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645282 - Anomaly of the filum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970 - Dedifferentiated liposarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645279 - Fibrolipomatous filum anomaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967 - Myxoid/round cell liposarcoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645276 - Spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 - Dysraphic spinal cord lipoma - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99965 - O'Sullivan-McLeod syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 645270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 - Open spinal dysraphism with a posterior meningocele - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966 - Atypical teratoid rhabdoid tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 645202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645202 - Closed spinal dysraphism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645196 - Limited dorsal myeloschisis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 - Benign recurrent intrahepatic cholestasis type 2 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 645193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645193 - Dysraphism with stalk - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 645188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188 - Spinal dermal sinus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 - Benign recurrent intrahepatic cholestasis type 1 - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 643549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643549 - Hao-Fountain syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 643538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538 - Hao-Fountain syndrome due to USP7 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 643503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503 - Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955 - Charcot-Marie-Tooth disease type 4B1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956 - Charcot-Marie-Tooth disease type 4B2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948 - Charcot-Marie-Tooth disease type 4A - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947 - Autosomal dominant Charcot-Marie-Tooth disease type 2A2 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950 - Charcot-Marie-Tooth disease type 4D - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 649929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649929 - Central precocious puberty in male - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949 - Charcot-Marie-Tooth disease type 4C - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952 - Charcot-Marie-Tooth disease type 4F - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951 - Charcot-Marie-Tooth disease type 4E - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954 - Charcot-Marie-Tooth disease type 4H - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953 - Charcot-Marie-Tooth disease type 4G - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 648992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992 - Non-syndromic bridging bronchus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940 - Autosomal dominant Charcot-Marie-Tooth disease type 2F - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939 - Autosomal dominant Charcot-Marie-Tooth disease type 2E - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 649010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010 - Non-syndromic congenital bronchial atresia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942 - Autosomal dominant Charcot-Marie-Tooth disease type 2I - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 649014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649014 - Bronchial malformation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 649017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649017 - Rare adrenocortical nodular disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944 - Autosomal dominant Charcot-Marie-Tooth disease type 2K - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 649029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029 - Isolated left bronchial isomerism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943 - Autosomal dominant Charcot-Marie-Tooth disease type 2J - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946 - Autosomal dominant Charcot-Marie-Tooth disease type 2A1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945 - Autosomal dominant Charcot-Marie-Tooth disease type 2L - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99931 - Idiopathic pulmonary hemosiderosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 648684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648684 - Central retinal artery occlusion - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99932 - Heiner syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 648919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648919 - Idiopathic catatonia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99933 - Pleuropulmonary blastoma type 1 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99934 - Pleuropulmonary blastoma type 2 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99935 - Pleuropulmonary blastoma type 3 - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936 - Autosomal dominant Charcot-Marie-Tooth disease type 2B - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937 - Autosomal dominant Charcot-Marie-Tooth disease type 2C - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938 - Autosomal dominant Charcot-Marie-Tooth disease type 2D - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 648562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 - Ferroportin disease - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 648559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648559 - Rare scleritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 648581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 - Digenic hemochromatosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 99925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925 - Invasive mole - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 648569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569 - Non-HFE-related hemochromatosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 99926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926 - Gestational choriocarcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 648665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648665 - Infectious scleritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99927 - Hydatidiform mole - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928 - Placental site trophoblastic tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 648681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648681 - Immune-mediated scleritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 648675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648675 - Idiopathic scleritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99930 - Secondary pulmonary hemosiderosis - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 99918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99918 - Streptococcal toxic-shock syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99917 - Theca steroid-producing cell malignant tumor of ovary, not further specified - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916 - Malignant Sertoli-Leydig cell tumor of the ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915 - Malignant granulosa cell tumor of the ovary - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99922 - Ocular cicatricial pemphigoid - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99921 - Chronic graft versus host disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99920 - Acute graft versus host disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99919 - Staphylococcal toxic-shock syndrome - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914 - Gynandroblastoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99913 - Extragonadal non-dysgerminomatous germ cell tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912 - Ovarian dysgerminoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 647815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815 - Keratitis fugax hereditaria - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 647811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811 - Cardiac-urogenital syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 647804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804 - Combined immunodeficiency due to FCHO1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 647916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647916 - Conjoined twins - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99905 - Streptobacillary rat-bite fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 647834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 - SLC40A1-related hemochromatosis - - - - 57146 - Rare hepatic disease - - - - Preferential parent - - - - - - 99903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99903 - Spirillary rat-bite fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 647823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647823 - Idiopathic pregnancy-associated osteoporosis - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 647772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647772 - Isolated primary pigmented nodular adrenocortical disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 647768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647768 - Rare adrenocortical nodular disease with Cushing syndrome as a major feature - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 647758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647758 - Adrenal Cushing syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 647681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681 - Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892 - ACTH-dependent Cushing syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 647799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 - MYT1L-related developmental delay-intellectual disability-obesity syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 647794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794 - Isolated persistent urogenital sinus - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898 - Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 647788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647788 - Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 647782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782 - Isolated micronodular adrenocortical disease - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879 - Familial isolated hyperparathyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 656283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 - Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880 - Hyperparathyroidism-jaw tumor syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 656313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656313 - Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 656300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300 - Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 656130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 656126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 - Segmental spinal dysgenesis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 656135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 - Intellectual disability-cupped ears syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887 - Acute megakaryoblastic leukemia in children with Down syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 658540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540 - 16q22 deletion syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 656912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912 - Autosomal dominant combined immunodeficiency due to ERBIN deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889 - Cushing syndrome due to ectopic ACTH secretion - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 658549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658549 - Idiopathic small fibers neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 656417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656417 - Embryonal tumor with multilayered rosettes - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 656326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326 - Autosomal recessive combined immunodeficiency due to IL6R deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 - Isolated permanent neonatal diabetes mellitus - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886 - Transient neonatal diabetes mellitus - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 653712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712 - CHD4-related neurodevelopmental disorder - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 653722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 - Digenic Alport syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 653725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653725 - Autosomal recessive limb-girdle muscular dystrophy, type 28 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865 - Spermatocytic seminoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 653728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 - Congenital insensitivity to pain syndrome, Marsili type - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860 - Precursor B-cell acute lymphoblastic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 653434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653434 - Autoinflammatory syndrome with acne and/or hidradenitis suppurativa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 653698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653698 - Lymphocytic mastitis - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 99861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861 - Precursor T-cell acute lymphoblastic leukemia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 653709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653709 - Cone rod dystrophy-short stature syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 656071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656071 - Atrophic papulosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 656085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656085 - Benign atrophic papulosis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 99868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99868 - Thymic carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 653751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653751 - X-linked combined immunodeficiency due to SASH3 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99867 - Thymoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 653767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767 - Jansen-de Vries syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 653880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 99869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99869 - Thymic neuroendocrine carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 652519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652519 - Cleft palate-congenital heart defect-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 - Glycogen storage disease due to muscle beta-enolase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 652514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652514 - Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 652510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652510 - Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 652487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 - Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 - Genetic recurrent myoglobinuria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 650187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650187 - Rare peripheral precocious puberty in female - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 - Autosomal dominant myoglobinuria - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 650182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650182 - Genetic central precocious puberty - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 650102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650102 - Non-genetic central precocious puberty in male - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 - Leukocyte adhesion deficiency type III - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 99857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99857 - Secondary syringomyelia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 652681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652681 - Idiopathic subglottic stenosis - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 652678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678 - Primary inferior vena cava aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858 - Idiopathic syringomyelia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 652668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668 - Primary superior vena cava aneurysm - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856 - Primary syringomyelia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 652658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658 - Monomorphic epitheliotropic intestinal T-cell lymphoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 99853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853 - Ovarioleukodystrophy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 652650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650 - Nodal T-follicular helper cell lymphoma, follicular type - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 652532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 - Adult-onset progressive leukoencephalopathy-early-onset deafness - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854 - Cree leukoencephalopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 652528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528 - Non-syndromic supernumerary kidneys - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852 - Ravine syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 652522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 - Periodic fever-immunodeficiency-thrombocytopenia syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 99832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832 - Resistance to thyrotropin-releasing hormone syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99829 - Yellow fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99828 - Dengue fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99827 - Crimean-Congo hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 650092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650092 - Secondary central precocious puberty in male - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842 - Leukocyte adhesion deficiency type I - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 650097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650097 - Genetic central precocious puberty in male - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 650082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650082 - Secondary central precocious puberty in female - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 650087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650087 - Primary central precocious puberty in male - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 650070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650070 - Rare central precocious puberty in female - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 650077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650077 - Genetic central precocious puberty in female - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 650063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650063 - Rare central precocious puberty - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 99811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 - Neuronal intestinal pseudoobstruction - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 660017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660017 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 660012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 - LIG4 syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 660021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 - Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 660053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660053 - Psittacosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 661526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661526 - MBD4-related tumor predisposition syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 661412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 - Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 662172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 - Phelan-McDermid syndrome due to SHANK3 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819 - Familial gestational hyperthyroidism - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 662169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662175 - Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 - Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 662184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 - Congenital muscular dystrophy-cataract-intellectual disability syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99824 - Lassa fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 662198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662198 - Neurodevelopmental delay-intellectual disability-skeletal defects syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99825 - Nipah virus disease - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99826 - Marburg hemorrhagic fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 659707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659707 - Yersinia pseudotuberculosis infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 - Subcortical band heterotopia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659712 - Rare yersiniosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798 - Oligodontia - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 99797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99797 - Anodontia - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 659744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659744 - Ocular surface squamous neoplasia - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 659756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659756 - Oroya fever - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 659759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659759 - Verruga peruana - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 - Hemimegalencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 - Wormian bones-micrognathia-abnormal dentition-progeroid syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 99806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 - Oculootodental syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 - Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 - PEHO-like syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 659908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659908 - Glanders - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 - Familial porencephaly - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 - Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 - PRC-2 complex-related overgrowth spectrum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 658951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951 - Early-onset immune dysregulation due to DOCK11 complete deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 659626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659626 - Single isolated optic neuritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 659609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 - Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 99789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789 - Dentin dysplasia type I - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 659642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 - Rauch-Steindl syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659634 - Relapsing isolated optic neuritis - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 659702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 - Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 659698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 - Hepatic cutaneous porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 659694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 - Hepatic porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 99791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791 - Dentin dysplasia type II - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 659681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 - Erythropoietic porphyria - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 99792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792 - Dentin dysplasia-sclerotic bones syndrome - - - - 98026 - Rare odontologic disease - - - - Preferential parent - - - - - - 658584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658584 - Rowell syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 658590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658590 - Eyelid sebaceous carcinoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 658574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658574 - Isolated pulmonary artery sling - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 658612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658612 - Non-transplant-related bronchiolitis obliterans - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 658595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 - DNMT3A-related microcephalic dwarfism - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 658602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658602 - Transplant-related bronchiolitis obliterans - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 658813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 - Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 658843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 - Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 99772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 - Cleft velum - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 658805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805 - Greig cephalopolysyndactyly-contiguous gene syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 658810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658810 - Atrophoderma of Pasini and Pierini - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 99771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771 - Bifid uvula - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 658917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658917 - Clonorchiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 658946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 - Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 658909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658909 - Fasciolopsiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 99776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776 - Mosaic trisomy 9 syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 658913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658913 - Paragonimiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 631073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631073 - Autosomal recessive spastic paraplegia type 82 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631076 - Autosomal recessive spastic paraplegia type 83 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631079 - Autosomal recessive spastic paraplegia type 84 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631082 - Autosomal recessive spastic paraplegia type 85 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631068 - Autosomal dominant spastic paraplegia type 80 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 - Spinocerebellar ataxia type 49 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 - Spinocerebellar ataxia type 48 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 - Spinocerebellar ataxia type 44 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631088 - Autosomal recessive spastic paraplegia type 87 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631085 - Autosomal recessive spastic paraplegia type 86 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 631251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631251 - Cancer of unknown primary site - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 631248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 - Mitchell Syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 626609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626609 - Rare andrological tumor - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 634475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475 - Mosaic NF2-related schwannomatosis - - - - 98036 - Rare otorhinolaryngologic disease - - - - Preferential parent - - - - - - 634492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634492 - Mosaic schwannomatosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 634511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511 - Mosaic Legius syndrome - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 634518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634518 - Neurofibromatosis/schwannomatosis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 634461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634461 - Mosaic neurofibromatosis type 1 - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 633228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228 - Isolated proximal femoral focal deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 637064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064 - Isolated optic nerve aplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 637061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061 - Isolated optic nerve hypoplasia - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 636970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970 - Autosomal recessive myosin storage myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 636965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965 - Autosomal dominant myosin storage myopathy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 637051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637051 - Borna virus encephalitis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 636945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636945 - Invasive candidiasis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 636941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 - Vascular Ehlers-Danlos-polymicrogyria syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 636955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636955 - Endemic pemphigus foliaceus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 636950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636950 - Glaucomatocyclitic crisis disease - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 641613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641613 - Endogenous Cushing syndrome - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 641829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641829 - Neonatal compartment syndrome - - - - 98028 - Rare circulatory system disease - - - - Preferential parent - - - - - - 641496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641496 - Childhood-onset schizophrenia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 641390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641390 - PsAPASH syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 641396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641396 - Central nervous system tuberculosis - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 641380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380 - PAPASH syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 641385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641385 - PASS syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 641375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375 - B-lymphoblastic leukemia/lymphoma with t(17;19) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 641368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368 - Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 641372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372 - B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 641353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353 - Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 641361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361 - Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 641343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641343 - Imprinting disorders - - - - 98053 - Rare genetic disease - - - - Preferential parent - - - - - - 641350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641350 - Immunotherapy induced hypophysitis - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 642788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642788 - Cushing syndrome due to cortisol-producing adrenocortical adenoma - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 642763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763 - Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 642747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 - PUM1-related cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 642691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691 - Fragile X-associated primary ovarian insufficiency - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 642675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 - CHD8 overgrowth syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 642671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671 - Familial hyperaldosteronism type IV - - - - 97978 - Rare endocrine disease - - - - Preferential parent - - - - - - 642099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 - Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 642085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 - EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 642071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 - Primary pulmonary vein stenosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 632603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 - Mesomelic dysplasia-digital anomalies-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 633021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 - SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 633024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 - SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 633004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 - KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 633014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014 - SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 633211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211 - Preaxial digit brachydactyly-webbed fingers - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 633124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633124 - Invasive scopulariopsis infection - - - - 68416 - Rare infectious disease - - - - Preferential parent - - - - - - 633035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 - Intellectual disability-early-onset cataract-microcephaly syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 633099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 - PAICS deficiency - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 633076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 - Split cord malformation, composite type - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 615938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 - Spastic paraparesis-cataracts-speech delay syndrome - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 615943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615943 - Granuloma faciale - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 615986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 615970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615970 - Chronic intervillositis of unknown etiology - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 615983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 615954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 615964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964 - Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 617449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617449 - Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome - - - - 97966 - Rare ophthalmic disorder - - - - Preferential parent - - - - - - 617408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617408 - Classic eosinophilic pustular folliculitis - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 617440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617440 - Painful legs and moving toes syndrome - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 617307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617307 - Rare disorder related to monochorionic twin pregnancy - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 617304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617304 - Amniotic fluid embolism - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 617313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617313 - Rare disorder due to inadequate sharing of the placenta - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 617310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617310 - Rare disorder due to unbalanced inter-twin blood transfusion - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 617294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617294 - Twin anemia-polycythemia sequence - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 616874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616874 - Rare disorder without a determined diagnosis after full investigation - - - - - 617301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617301 - Selective intrauterine growth restriction - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 617297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617297 - Twin-reversed arterial perfusion sequence - - - - 96344 - Rare gynecologic or obstetric disease - - - - Preferential parent - - - - - - 621758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 - Fibrosis-neurodegeneration-cerebral angiomatosis syndrome - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 620371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 - Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 620368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 - EGF-related primary hypomagnesemia with intellectual disability - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 620217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620217 - Bartter syndrome type 1 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 620220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220 - Bartter syndrome type 2 - - - - 93626 - Rare renal disease - - - - Preferential parent - - - - - - 620205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205 - Non-syndromic bicoronal and sagittal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212 - Non-syndromic pansynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192 - Non-syndromic metopic and sagittal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198 - Non-syndromic bicoronal and metopic craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178 - Non-syndromic bilambdoid craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186 - Non-syndromic unicoronal and sagittal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152 - Non-syndromic multisutural craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158 - Non-syndromic non-specific multisutural craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139 - Non-syndromic unifrontosphenoidal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146 - Non-syndromic unisquamosal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102 - Non-syndromic unicoronal craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113 - Non-syndromic unilambdoid craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 620096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096 - Non-syndromic unisutural craniosynostosis - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 624268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624268 - Non-specific autoimmune cerebellar ataxia without characteristic antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 624259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624259 - Non-specific autoimmune cerebellar ataxia with characteristic antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 624199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624199 - Non-specific autoimmune brainstem encephalitis with characteristic antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 624190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624190 - Paraneoplastic isolated brainstem encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 624244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624244 - Postinfectious cerebellitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 624216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624216 - Non-specific autoimmune brainstem encephalitis without characteristic antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 623789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623789 - Body integrity dysphoria - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 623801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623801 - Acute flaccid myelitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 624166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624166 - Non-specific autoimmune supratentorial encephalitis with characteristic antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 624178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624178 - Non-specific autoimmune supratentorial encephalitis without characteristic antibodies - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 623615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623615 - Autoimmune limbic encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 623626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623626 - Paraneoplastic cerebellar degeneration - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 623638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623638 - Immune-mediated cerebellar ataxia - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 623695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 - MIR140-related spondyloepiphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 622925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 - X-linked severe syndromic thoracic aortic aneurysm and dissection - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 622934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 - SBDS-related severe neonatal spondylometaphyseal dysplasia - - - - 93419 - Rare bone disease - - - - Preferential parent - - - - - - 622014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622014 - Autoimmune encephalitis - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 622099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622099 - Superior mesenteric artery syndrome - - - - 97935 - Rare gastroenterologic disease - - - - Preferential parent - - - - - - 622720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622720 - Genetic autoinflammatory syndrome with skin involvement - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 622914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622914 - Rare genetic nevus - - - - 89826 - Rare skin disease - - - - Preferential parent - - - - - - 618899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 - Acid sphingomyelinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 618891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 - Chronic neurovisceral acid sphingomyelinase deficiency - - - - 68367 - Rare inborn errors of metabolism - - - - Preferential parent - - - - - - 617910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617910 - Conjunctival malignant melanoma - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 617916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617916 - Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia - - - - 97955 - Rare respiratory disease - - - - Preferential parent - - - - - - 617919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919 - F12-associated cold autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 617930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617930 - Hemophilia B Leyden - - - - 97992 - Rare hematologic disease - - - - Preferential parent - - - - - - 619941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941 - Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 619367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 - SAMD9L-associated autoinflammatory syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 619953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953 - Familial hyperinflammatory lymphoproliferative immunodeficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 619948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948 - Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 619979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 - Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 619972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972 - CADINS disease - - - - 98004 - Rare immune disease - - - - Preferential parent - - - - - - 619249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619249 - Rare hereditary connective tissue disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 619284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619284 - Narcolepsy - - - - 98006 - Rare neurologic disease - - - - Preferential parent - - - - - - 619340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619340 - Inherited hematologic cancer-predisposing syndrome - - - - 250908 - Rare neoplastic disease - - - - Preferential parent - - - - - - 619363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 - NOCARH syndrome - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - 619233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 - Hereditary persistence of fetal hemoglobin-intellectual disability syndrome - - - - 93890 - Rare developmental defect during embryogenesis - - - - Preferential parent - - - - - - 619238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619238 - Rare hereditary autoinflammatory disease - - - - 98023 - Rare systemic or rheumatologic disease - - - - Preferential parent - - - - - - + + + + + Creative Commons Attribution 4.0 International + CC-BY-4.0 + https://creativecommons.org/licenses/by/4.0/legalcode + + + + + 166024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 + Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 166032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 + Multiple epiphyseal dysplasia-miniepiphyses syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 58 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 + Alexander disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 + Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 61 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 + Alpha-mannosidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 + Metaphyseal chondrodysplasia, Kaitila type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 166035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 + Brachydactyly-short stature-retinitis pigmentosa syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 + Aspartylglucosaminuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 + Multiple sulfatase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 + Beta-mannosidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 + Canavan disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 + Pontocerebellar hypoplasia type 4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 166078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 + Von Willebrand disease type 1 + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 166073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 + Pontocerebellar hypoplasia type 6 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 + Cystinosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 + Von Willebrand disease type 2A + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 + Farber disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081 + Von Willebrand disease type 2 + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 + Fucosidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 + Von Willebrand disease type 2M + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 + Glycogen storage disease due to acid maltase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 + Von Willebrand disease type 2B + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 + Glycogen storage disease due to glycogen debranching enzyme deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 + Von Willebrand disease type 2N + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 + Glycogen storage disease due to muscle glycogen phosphorylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 + Von Willebrand disease type 3 + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 + Glycogen storage disease due to glycogen branching enzyme deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 + Autosomal dominant otospondylomegaepiphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 + Glycogen storage disease due to muscle phosphofructokinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 + FASTKD2-related infantile mitochondrial encephalomyopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 + Glycogen storage disease due to liver glycogen phosphorylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 + Paroxysmal nocturnal hemoglobinuria + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 166108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 + Birk-Barel syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 166113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113 + Bazex syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535 + Rare cutaneous lupus erythematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 166119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 + Isolated osteopoikilosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 + Krabbe disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 + Dentinogenesis imperfecta type 2 + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 166265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 + Dentinogenesis imperfecta type 3 + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 + Mucopolysaccharidosis type 6 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 + Odontochondrodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 + Mucolipidosis type II + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 + Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 + Sialidosis type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 + Hereditary sick sinus syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 + Mucolipidosis type IV + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 + Porokeratotic eccrine ostial and dermal duct nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 + Mucolipidosis type III + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166291 + Dirofilariasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 166308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308 + Benign infantile focal epilepsy with midline spikes and waves during sleep + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912 + Poliomyelitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 + Sandhoff disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409 + Photosensitive occipital lobe epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801 + Scleroderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 + Recessive X-linked ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 166421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421 + Orgasm-induced epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418 + Eating reflex epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166415 + Audiogenic epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 + Mucopolysaccharidosis type 7 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412 + Hot water reflex epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433 + Epilepsy with reading-induced seizures + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166430 + Micturition-induced epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 + Turner syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 166427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166427 + Startle epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424 + Thinking epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 95 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 + Friedreich ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466 + Neurocutaneous syndrome with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 + Beta-thalassemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 166469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166469 + Chromosomal anomaly with epilepsy as a major feature + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 + Alpha-thalassemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 + Cystic fibrosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 166463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166463 + Epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478 + Cerebral malformation with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 + Duchenne and Becker muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166481 + Metabolic diseases with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166472 + Monogenic disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166475 + Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 + Emery-Dreifuss muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166490 + Infectious disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166484 + Inflammatory and autoimmune disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166487 + Cerebral diseases of vascular origin with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 + MELAS + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 + Facioscapulohumeral dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 + Kearns-Sayre syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593 + Myofibrillar myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 + MERRF + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 + Central core disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607 + Nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 + Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 + Paramyotonia congenita of Von Eulenburg + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931 + Acrodermatitis continua of Hallopeau + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 + Steinert myotonic dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927 + Pustulosis palmaris et plantaris + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 163937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 + X-linked intellectual disability, Najm type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163934 + Atopic keratoconjunctivitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 614 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 + Thomsen and Becker disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921 + Posttransplant acute limbic encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 + X-linked dominant chondrodysplasia, Chassaing-Lacombe type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 163971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 + X-linked intellectual disability, Cilliers type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 + X-linked intellectual disability, Van Esch type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 + X-linked intellectual disability-craniofacioskeletal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 + X-linked intellectual disability, Nascimento type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 + X-linked cerebral-cerebellar-coloboma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 164004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004 + Middle and/or inner ear anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 164726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726 + Acute myeloid leukemia and myelodysplastic syndromes related to radiation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 + Fabry disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 163985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 + Hyperekplexia-epilepsy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 + Rett syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 164001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164001 + Rare odontal or periodontal disorder + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 72 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 + Angelman syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 165661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165661 + Genetic pancreatic disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 + Juvenile myoclonic epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 165658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165658 + Genetic gastro-esophageal disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 165655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165655 + Genetic intestinal disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 165652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165652 + Rare genetic gastroenterological disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 1941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 + Juvenile absence epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 + Von Hippel-Lindau disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 164823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823 + Rare acquired aplastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 + Autosomal recessive polycystic kidney disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 164736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 + Familial advanced sleep-phase syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 + CHARGE syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 + Marfan syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 + Amyotrophic lateral sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 165711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165711 + Rare abdominal surgical disease + + + + + 1160 + Chylous ascites + + + Preferential parent + + + + + + 49041 + IgG4-related retroperitoneal fibrosis + + + Preferential parent + + + + + + 238593 + IgG4-related mesenteritis + + + Preferential parent + + + + + + 293208 + Celiac artery compression syndrome + + + Preferential parent + + + + + + 438274 + GCGR-related hyperglucagonemia + + + Preferential parent + + + + + + 449400 + IgG4-related aortitis + + + Preferential parent + + + + + + 696175 + Encapsulating peritoneal sclerosis + + + Preferential parent + + + + + + 165707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707 + Syndromic urogenital tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 + Ataxia-telangiectasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 165704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704 + Non-syndromic urogenital tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 + Familial adenomatous polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 + Huntington disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 165955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165955 + Wound myiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 + Lafora disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 165958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165958 + Cavitary myiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 + Down syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 + Metachromatic leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 166016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 + Multiple epiphyseal dysplasia, Lowry type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 + 22q11.2 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 + Sickle cell anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536 + Systemic lupus erythematosus + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 166002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 + Multiple epiphyseal dysplasia due to collagen 9 anomaly + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 + Oculocerebrorenal syndrome of Lowe + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 165988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 + Diazoxide-resistant diffuse hyperinsulinism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790 + Retinoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 165991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 + Exercise-induced hyperinsulinism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 + Multiple endocrine neoplasia type 1 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 165985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 + Diazoxide-sensitive diffuse hyperinsulinism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 + Fragile X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3099 + Rheumatic fever + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 + Prader-Willi syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 47 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47 + X-linked agammaglobulinemia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 + Mucopolysaccharidosis type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 579 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 + Mucopolysaccharidosis type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 + Wilson disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 163209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 + Non-syndromic cerebral malformation due to abnormal neuronal migration + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 + X-linked retinoschisis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 163525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525 + Subacute cutaneous lupus erythematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 + Stargardt disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 163582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163582 + Rare bacterial infectious disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 163531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163531 + Chronic cutaneous lupus erythematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 + Wiskott-Aldrich syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 + Williams syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 + Wolf-Hirschhorn syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 162516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 + Isolated congenital nasal pyriform aperture stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 15 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 + Achondroplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 96 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 + Ataxia with vitamin E deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 162526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526 + Isolated congenital auditory ossicle malformation + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 + Dentatorubral pallidoluysian atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 + Rubinstein-Taybi syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 + Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631 + Non-acquired isolated growth hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276 + T-B+ severe combined immunodeficiency due to gamma chain deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 163654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 + Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 + Kennedy disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 + Ornithine transcarbamylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 163668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 + Spondyloepiphyseal dysplasia, MacDermot type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 163662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 + Spondyloepiphyseal dysplasia, Reardon type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 + Homocystinuria due to cystathionine beta-synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 163665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 + Spondyloepiphyseal dysplasia tarda, Kohn type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 + Donohue syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 163591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163591 + Rare mycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 + Hypophosphatasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 163596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 + Hemoglobin Bart's fetalis syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 163585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163585 + Rare viral disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 + Hypochondroplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 163588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163588 + Rare parasitic disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 + Hypophosphatemic rickets + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 163637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163637 + Rare disorder related with pregnancy, childbirth and puerperium + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 + Leber hereditary optic neuropathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 163631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 + Bile acid synthesis defect with cholestasis and malabsorption + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 + Hydrocephalus with stenosis of the aqueduct of Sylvius + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 + Maffucci syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 163717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 + Familial mesial temporal lobe epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708 + Cryptogenic late-onset epileptic spasms + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 + Neurofibromatosis type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703 + Febrile infection-related epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 + Norrie disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 + Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 + Rolandic epilepsy-speech dyspraxia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 + Leukoencephalopathy-dystonia-motor neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 + CNTNAP2-related developmental and epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 + Chronic granulomatous disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 16 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 + Blue cone monochromatism + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 + NARP syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 163699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163699 + Alveolar soft tissue sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 + Full NF2-related schwannomatosis + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 163696 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 + Action myoclonus-renal failure syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 + X-linked hypohidrotic ectodermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 + 2p21 microdeletion syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 163690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 + Hypotonia-cystinuria syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 + Fibrodysplasia ossificans progressiva + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 + Gorlin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 + Noonan syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 + Monosomy 5p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 752 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 + 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 + Cystinuria + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 + Lesch-Nyhan syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 + Li-Fraumeni syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 + Pearson syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 + Hereditary neuropathy with liability to pressure palsies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 60 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 + Alpha-1-antitrypsin deficiency + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 + Waardenburg syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 + Waardenburg syndrome type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 + Townes-Brocks syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 + Waardenburg syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 + Hyperkalemic periodic paralysis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 800 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 + Schwartz-Jampel syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 + Diastrophic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673 + Malaria + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 + Hypokalemic periodic paralysis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 + Blepharophimosis-ptosis-epicanthus inversus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 + BOR syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 + Hereditary hemorrhagic telangiectasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 + Saethre-Chotzen syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 + Pfeiffer syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 + Peutz-Jeghers syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 + WAGR syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 + Zellweger syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 50 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 + Aicardi syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 53 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 + Albers-Schönberg osteopetrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 14 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 + Abetalipoproteinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 52 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 + Alagille syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 + Chédiak-Higashi syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 + Cat-eye syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 + Crouzon syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 + Crigler-Najjar syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 160148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148 + Cap polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 + Cowden syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 + Coffin-Lowry syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 + X-linked lymphoproliferative disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 + Mild hemophilia A + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 169826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826 + Congenital vitamin K-dependent coagulation factors deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 169802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 + Severe hemophilia A + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 169805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 + Moderate hemophilia A + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 + McCune-Albright syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 565 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 + Menkes disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 + Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 + Jeune syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 + Familial hemophagocytic lymphohistiocytosis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 + Microphthalmia, Lenz type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 + Meckel syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 + Ellis Van Creveld syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 + Laminin subunit alpha 2-related congenital muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1247 + Schistosomiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112 + Bartter syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 169443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169443 + Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 1646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 + Chromosome Y microdeletion syndrome + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 169464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 + Primary CD59 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 + Autosomal dominant cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 + Beckwith-Wiedemann syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 87 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 + Apert syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 + Familial paroxysmal ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 169467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467 + Recurrent Neisseria infections due to factor D deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 + Lamellar ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 169799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 + Mild hemophilia B + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 169796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 + Moderate hemophilia B + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 169793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 + Severe hemophilia B + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 171220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220 + Isolated rectal duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 + Ocular albinism with late-onset sensorineural deafness + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999 + Ermine phenotype + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 + Severe congenital nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 + Intermediate nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 + Typical nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 + Childhood-onset nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 55 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 + Oculocutaneous albinism + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 171442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 + Adult-onset nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 + Muscle filaminopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 + X-linked spastic paraplegia type 34 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 + Bruck syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 171612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 + Autosomal dominant spastic paraplegia type 37 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 + Autosomal dominant spastic paraplegia type 38 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 + Mitochondrial DNA-related cardiomyopathy and hearing loss + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 171622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 + Autosomal recessive spastic paraplegia type 32 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 + Autosomal recessive spastic paraplegia type 35 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 + Treacher-Collins syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 + Progressive myoclonic epilepsy type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991 + Cleft lip with or without cleft palate + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 + Cornelia de Lange syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 + Holoprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 + Idiopathic achalasia + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 + Albinism-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727 + 22q11.2 duplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 169079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 + Cernunnos-XLF deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 1716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716 + Distal duplication 18q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715 + Trisomy 18p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 + Trisomy 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 + CLAPO syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 + Distal duplication 15q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999 + Malignant melanoma of the mucosa + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 + Trisomy 13 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 169110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169110 + Immunoglobulin heavy chain deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 + Immunodeficiency due to CD25 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105 + Thymoma-hypogammaglobulinemia syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090 + Combined immunodeficiency due to CRAC channel dysfunction + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 + Trisomy 9p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 169095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 + Severe combined immunodeficiency due to FOXN1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 + Combined immunodeficiency due to CD3gamma deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 + Susceptibility to respiratory infections associated with CD8alpha chain mutation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 168829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829 + Primary peritoneal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 168816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168816 + Peritoneal inclusion cyst + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 + 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 + Triose phosphate-isomerase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 168811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811 + Malignant peritoneal mesothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 168807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168807 + Primary malignant peritoneal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 168803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168803 + Primary peritoneal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 + Darier disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 168796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 + Heart-hand syndrome, Slovenian type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 + Coffin-Siris syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782 + Childhood disintegrative disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 + Distal deletion 9p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966 + Composite lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 168960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960 + Refractory anemia with excess blasts in transformation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 8 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8 + 47,XYY syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636 + Distal monosomy 7q36 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 + Hypereosinophilic syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 168953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953 + Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 168950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950 + Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 + Monosomy 18q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947 + Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 168943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168943 + Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 + Monosomy 18p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 + Chronic eosinophilic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 + Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 + Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 + Isolated complex I deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 169361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361 + Immune dysregulation disease with immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 626 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 + Large/giant congenital melanocytic nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 + Adult Refsum disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 11 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11 + Pentasomy X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 169154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 + T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 + Glycogen storage disease due to phosphorylase kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 169150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 + Immunodeficiency due to a late component of complement deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160 + T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 + Neurodegeneration with brain iron accumulation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 169157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 + T-B+ severe combined immunodeficiency due to CD45 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139 + Transient hypogammaglobulinemia of infancy + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 1947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 + Northern epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 169147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147 + Immunodeficiency due to a classical component pathway complement deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 + Recurrent infections due to specific granule deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 + Galactosemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 + X-linked centronuclear myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 169349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169349 + Immuno-osseous dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 169346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169346 + DNA repair defect other than combined T-cell and B-cell immunodeficiencies + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 169355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355 + Immunodeficiency syndrome with autoimmunity + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 + Bethlem muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 169186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 + Autosomal recessive centronuclear myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 + Incontinentia pigmenti + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307 + Tetrasomy 18p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 169163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163 + Familial scaphocephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 169189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 + Autosomal dominant centronuclear myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 44 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 + Neonatal adrenoleukodystrophy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 56 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 + Alkaptonuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 + Acromegaly + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 + Blue rubber bleb nevus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 + Alopecia antibody deficiency + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 + Lethal hemolytic anemia-genital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 22 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 + Succinic semialdehyde dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 29 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 + Mevalonic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 + Nager syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 30 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 + Hereditary orotic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 36 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 + Acrocallosal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 + Aarskog-Scott syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2614 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 + Nail-patella syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 33 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 + Isovaleric acidemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 168194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168194 + Rare cardiac tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 + Smith-Magenis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 + Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 9 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 + Tetrasomy X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615 + Hereditary persistence of alpha-fetoprotein + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 168612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612 + Congenital deficiency in alpha-fetoprotein + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 1442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442 + Ring chromosome 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621 + Dysplasia of head of femur, Meyer type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 + Cleidocranial dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 168629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 + Autosomal thrombocytopenia with normal platelets + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 + Cohen syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 + Familial scaphocephaly syndrome, McGillivray type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168778 + Rare pervasive developmental disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 + Cooper-Jabs syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200 + Isolated corpus callosum agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 + Generalized basaloid follicular hamartoma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 + Chronic mucocutaneous candidiasis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 168583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 + Hereditary North American Indian childhood cirrhosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 1369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 + Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 168577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 + Hereditary cryohydrocytosis with reduced stomatin + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 168593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 + Sudden infant death-dysgenesis of the testes syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 + Charlie M syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 + Hyperandrogenism due to cortisone reductase deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 168601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 + Congenital enteropathy due to enteropeptidase deficiency + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 1414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 + Cholestasis-lymphedema syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 + Methionine adenosyltransferase I/III deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 168606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 + Seborrhea-like dermatitis with psoriasiform elements + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 168549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 + Axial spondylometaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 168552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 + Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154 + Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 + Spondylometaphyseal dysplasia, A4 type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 168558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 + 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 + 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 + Diamond-Blackfan anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 168566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 + Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 + Caffey disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 168569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 + H syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 168572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 + Native American myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 + Bloom syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 + Argininemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 168443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 + Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 + Aniridia-cerebellar ataxia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 + Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 168454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 + Spondyloepimetaphyseal dysplasia, Geneviève type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 + Distal arthrogryposis type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 + Neurogenic arthrogryposis multiplex congenita + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 168544 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 + Spondylometaphyseal dysplasia, Golden type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 + Sheldon-Hall syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 + Postaxial acrofacial dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1770 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 + XY type gonadal dysgenesis-associated anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 + Dyskeratosis congenita + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 1764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 + Familial dysautonomia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 + Dubowitz syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 + Dyggve-Melchior-Clausen disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 167762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167762 + Rare disease with dentinogenesis imperfecta + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 1672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1672 + Diencephalic syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 167759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167759 + Hereditary dentin defect + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 + Encephalopathy due to sulfite oxidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 167714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714 + Unclassified acute myeloid leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 167635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635 + Scleromyxedema + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 + Pyruvate dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 + Homocystinuria due to methylene tetrahydrofolate reductase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 + Isolated glycerol kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 + Multiple carboxylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 + Carbamoyl-phosphate synthetase 1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 23 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 + Argininosuccinic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 45 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 + Adenosine monophosphate deaminase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 166775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166775 + Rare hemorrhagic disorder due to an acquired coagulation factor defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 + Dihydropteridine reductase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 + Isolated Dandy-Walker malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 + Cutis marmorata telangiectatica congenita + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 + Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 + Corpus callosum agenesis-neuronopathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 + Neonatal severe primary hyperparathyroidism + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 + Hypogonadism-mitral valve prolapse-intellectual disability syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 + Hypoplastic left heart syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 + Neonatal hemochromatosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 2135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 + Cutaneous mastocytosis-deafness-microtia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 + Congenital diaphragmatic hernia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185 + Congenital hydrocephalus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 + Hartnup disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 + Hawkinsinuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 167848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167848 + Rare cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 + Galactosialidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 + Congenital fiber-type disproportion myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 + Freeman-Sheldon syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 + Frontal encephalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 + Fetal parvovirus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 + Ebstein malformation of the tricuspid valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 + Dopa-responsive dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 + Fetal alcohol syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 + Isolated ectopia lentis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 + Multicystic dysplastic kidney + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660 + Omphalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180312 + Rare vulvovaginal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635 + Neuroblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 + Linear nevus sebaceus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 + Metatropic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 + Thanatophoric dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 180303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180303 + Rare non-malformative uterine adnexal disease + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 + Proximal myotonic myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 705 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 + Pendred syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 180779 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180779 + Syndromic diaphragmatic or thoracic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180776 + Non-syndromic diaphragmatic or thoracic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 + Juvenile Paget disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 + Pallister-Killian syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180772 + Rare disease with autism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 180766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766 + Malformative syndrome with dentinogenesis imperfecta + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 + Osteopetrosis with renal tubular acidosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 + Horizontal gaze palsy with progressive scoliosis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 2746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 + Opsismodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 + Peroxisomal acyl-CoA oxidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 + Prune belly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 + Proteus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 + Familial spontaneous pneumothorax + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901 + Neuralgic amyotrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 + Isolated Pierre Robin sequence + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180821 + Rare gastroesophageal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 180824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180824 + Rare tumor of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 181387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 + Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290 + Congenital rubella syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 + Costello syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 181390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 + Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181381 + Other rare diabetes mellitus + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181384 + Rare hypothalamic or pituitary disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181371 + Rare diabetes mellitus type 1 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 + Pycnodysostosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 181376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181376 + Rare diabetes mellitus type 2 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 + Difference of sex development-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982 + 46,XX difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 181368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181368 + Rare insulin-resistance syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 180202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180202 + Rare non-malformative breast disease + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 2301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 + Congenital short bowel syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180199 + Rare non-malformative gynecologic or obstetric disease + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 + Hereditary fructose intolerance + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 180208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180208 + Anomaly of puberty or/and menstrual cycle + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 2308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 + Jacobsen syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180205 + Rare non-malformative uterovaginal or vulvovaginal disease + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 2318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 + Joubert syndrome with oculorenal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 + Foveal hypoplasia-presenile cataract syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 180188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180188 + Isolated congenital breast hypoplasia/aplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180182 + Supernumerary breasts + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180193 + Syndromic breast hypoplasia/aplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300 + Isolated multiple intestinal atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226 + Embryonal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 502 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 + Trichorhinophalangeal syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229 + Polyembryoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 + Larsen-like osseous dysplasia-short stature syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 + KID syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180220 + Rare uterine adnexal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 180247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180247 + Vaginal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 + Leigh syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 180250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180250 + Rare breast tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430 + Congenital macroglossia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180253 + Rare benign breast tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 + Congenital pulmonary lymphangiectasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 + Congenital laryngomalacia + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 180234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234 + Mixed germ cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 180237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180237 + Benign tumor of fallopian tubes + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 + Laurence-Moon syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2374 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 + Isolated congenital laryngeal web + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 180242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242 + Malignant tumor of fallopian tubes + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 + MASA syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275 + Paget disease of the nipple + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 + Marshall syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 + Moebius syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 + Short rib-polydactyly syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 180257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180257 + Rare malignant breast tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 180261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261 + Phyllodes tumor of the breast + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 180267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180267 + Giant adenofibroma of the breast + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 + Congenital pulmonary airway malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 + Potassium-aggravated myotonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 179494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 + Obesity due to leptin receptor gene deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 + Phenylketonuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 179490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490 + Obesity due to congenital leptin resistance + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 180071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071 + Unilateral aplasia of the Müllerian ducts + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068 + Partial bilateral aplasia of the Müllerian ducts + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065 + Non-syndromic uterovaginal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 + Classical Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 180062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180062 + Uterovaginal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106 + Bicervical bicornuate uterus and blind hemivagina + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086 + Didelphys uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079 + Pseudounicornuate uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074 + True unicornuate uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 + Septate uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114 + Unicervical bicornuate uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111 + Bicervical bicornuate uterus with patent cervix and vagina + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134 + Bicornuate uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139 + Uterine hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 + Complete septate uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 + Partial septate uterus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180148 + Syndromic uterovaginal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 + Early-onset autosomal dominant Alzheimer disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 180151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 + Rare vaginal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 63 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 + Alport syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 54 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 + X-linked recessive ocular albinism + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 180142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 + Absence of uterine body + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 + Uterine cervical aplasia and agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 + Transverse vaginal septum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 + Familial isolated dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 180163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180163 + Rare breast malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 84 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 + Fanconi anemia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 + Septate vagina + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 70 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70 + Proximal spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 69 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69 + Amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 180157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 + Longitudinal vaginal septum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180173 + Deficient breast volume or number + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180176 + Familial juvenile hypertrophy of the breast + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 + Cockayne syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 + Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 180170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180170 + Excess breast volume or number + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 178551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 + Aggressive primary cutaneous T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 + Indolent primary cutaneous T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 + Free sialic acid storage disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 178557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 + Indolent primary cutaneous B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 + Aggressive primary cutaneous B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 + Schizencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 178563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563 + Primary cutaneous B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 + Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 178566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 + Mycosis fungoides and variants + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 + Silver-Russell syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 + Sirenomelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 + Sjögren-Larsson syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 + Sotos syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 + Infantile spasms-broad thumbs syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 + Stormorken-Sjaastad-Langslet syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 3205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 + Sturge-Weber syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 + Thrombocytopenia-absent radius syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 178996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178996 + Acquired neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 + Tracheal agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 179006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179006 + Primary immunodeficiency due to a defect in adaptive immunity + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858 + Congenital toxoplasmosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 + VACTERL/VATER association + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291 + Congenital varicella syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 + Cerebrotendinous xanthomatosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 + Weaver syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 + Chondrodysplasia-difference of sex development syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 178478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478 + Infant botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 178481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481 + Intestinal botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 178469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 + Autosomal dominant non-syndromic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475 + Wound botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 178461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 + X-linked myopathy with postural muscle atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 + Hereditary myopathy with early respiratory failure + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 + Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 178400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 + Distal myopathy with anterior tibial onset + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382 + Congenital vertical talus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 178389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 + Osteopetrosis-hypogammaglobulinemia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 62 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 + Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 + Syndromic microphthalmia type 5 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 + Glycogen storage disease due to muscle phosphorylase kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 178377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 + Osteosclerosis-developmental delay-craniosynostosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 + Fructose-1,6-bisphosphatase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 178345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 + Aromatase excess syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 178355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 + Smith-McCort dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 178338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 + UV-sensitive syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 + Alpha-N-acetylgalactosaminidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 178342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178342 + Inflammatory myofibroblastic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178544 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 + Primary cutaneous diffuse large B-cell lymphoma, leg type + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 + Primary cutaneous follicle center lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 + Behçet disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 732 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732 + Polymyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 178536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 + Primary cutaneous marginal zone B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 + Primary cutaneous gamma/delta-positive T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 221 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221 + Dermatomyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 + Multiminicore myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 + Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204 + Sporadic Creutzfeldt-Jakob disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522 + Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 + Localized pagetoid reticulosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 + Folliculotropic mycosis fungoides + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 + Perry syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 + Interstitial lung disease-brain calcification syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611 + Inclusion body myositis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487 + Adult intestinal botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 177926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 + Bleeding disorder in hemophilia A carriers + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 + Mucopolysaccharidosis type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 177929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 + Bleeding disorder in hemophilia B carriers + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 178025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025 + Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 + Hereditary spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 + Osteogenesis imperfecta + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 178029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029 + Arginine vasopressin deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 177901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 + Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 + Malignant hyperthermia of anesthesia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 177904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 + Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 + Congenital adrenal hyperplasia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 177907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 + Prader-Willi syndrome due to translocation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 177910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 + Prader-Willi syndrome due to imprinting mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 + Neuronal ceroid lipofuscinosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 + Glycogen storage disease due to glucose-6-phosphatase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 177101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177101 + Rare adult hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355 + Gaucher disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 + Hirschsprung disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 177107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107 + Syndromic hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448 + Hemophilia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304 + Epidermolysis bullosa simplex + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 174590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 + Congenital hypogonadotropic hypogonadism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 + GM1 gangliosidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 178320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178320 + Acute lung injury + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 178315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178315 + Undifferentiated embryonal sarcoma of the liver + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 178333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 + Åland Islands eye disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 + Purine nucleoside phosphorylase deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 + Oculopharyngeal muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303 + 8q22.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 + Primary ciliary dyskinesia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 178148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 + Antenatal multiminicore disease with arthrogryposis multiplex congenita + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 178311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178311 + Isolated sternocostoclavicular hyperostosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 178307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 + Reticulate acropigmentation of Kitamura + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589 + Myasthenia gravis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 + Tuberous sclerosis complex + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 + Usher syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 178145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 + Moderate multiminicore disease with hand involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 + Waardenburg syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 178040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178040 + Rare peripheral precocious puberty + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 + Pelizaeus-Merzbacher disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 + Porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 + Congenital long QT syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 178045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178045 + Transient congenital hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 + Retinitis pigmentosa + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375 + Anti-glomerular basement membrane disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 + Eosinophilic granulomatosis with polyangiitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1164 + Allergic bronchopulmonary aspergillosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406 + Locked-in syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=509 + Leptospirosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761 + Immunoglobulin A vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 + Alternating hemiplegia of childhood + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 + Primary cutaneous T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 + Glycogen storage disease due to phosphoglycerate kinase 1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 171915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915 + B-cell non-Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 57 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 + Glycogen storage disease due to aldolase A deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 171895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895 + Myeloid hemopathy + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 171898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898 + Lymphoid hemopathy + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249 + Fibrous dysplasia of bone + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 172976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172976 + Congenital myopathy with cores + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334 + Autosomal dominant keratitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 171918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918 + T-cell non-Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 + Leydig cell hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929 + Trisomy 10p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 + Citrullinemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 46 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 + Adenylosuccinate lyase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442 + Congenital hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 43 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 + X-linked adrenoleukodystrophy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 + Sialuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 + Sitosterolemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=810 + Shigellosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 3165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165 + Eosinophilic fasciitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2420 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420 + Primary pulmonary lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 + Microscopic polyangiitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 900 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 + Granulomatosis with polyangiitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=863 + Trichinellosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 171695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 + Parkinsonian-pyramidal syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 + Beta-ketothiolase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 171700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171700 + Diffuse panbronchiolitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984 + Pulmonary agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 + Microcephaly-polymicrogyria-corpus callosum agenesis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706 + Short stature-delayed bone age due to thyroid hormone metabolism deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 171709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709 + Male infertility due to globozoospermia + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 171719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719 + Cutis laxa-Marfanoid syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1163 + Aspergillosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 171723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 + White sponge nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 + Hereditary xanthinuria + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 171673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171673 + Limbal stem cell deficiency + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 + Maple syrup urine disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 171680 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 + Lissencephaly due to TUBA1A mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 32 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 + Glutathione synthetase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 171684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171684 + Idiopathic bilateral vestibulopathy + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 171690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 + Metabolic myopathy due to lactate transporter defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 26 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 + Methylmalonic acidemia with homocystinuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 171863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 + Autosomal dominant spastic paraplegia type 42 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 171871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871 + Renal pseudohypoaldosteronism type 1 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 + Exstrophy-epispadias complex + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 + Spondyloepimetaphyseal dysplasia, aggrecan type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 + Gastroschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 + Cap myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 + Autosomal recessive primary microcephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913 + Non-syndromic polydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171876 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876 + Generalized pseudohypoaldosteronism type 1 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=795 + Rare form of salmonellosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 171889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889 + Myopathy with hexagonally cross-linked tubular arrays + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 + Sarcoidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 171886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886 + Cylindrical spirals myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 92 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92 + Juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 171829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 + 6q16 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 + Small bowel atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 + Blindness-scoliosis-arachnodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 + Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 + Larynx atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199 + Esophageal atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 + MEDNIK syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 171848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 + Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1304 + Brucellosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=173 + Cholera + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 200037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 + Paroxysmal dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 + Tetralogy of Fallot + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 200418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418 + Immunodeficiency with factor I anomaly + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 730 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 + Autosomal dominant polycystic kidney disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 200421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421 + Immunodeficiency with factor H anomaly + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 + Autosomal dominant severe congenital neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 1209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209 + Tricuspid atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647 + Isolated encephalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 + Autosomal recessive spastic ataxia of Charlevoix-Saguenay + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478 + Interatrial communication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 + Congenital factor XII deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1482 + Gonococcal conjunctivitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1959 + Evans syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284 + Alveolar echinococcosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 1177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 + Early-onset cerebellar ataxia with retained tendon reflexes + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 + Stickler syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 + Paroxysmal dyskinesia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 199340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340 + BAG3-related myofibrillar myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293 + Congenital herpes simplex virus infection + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 + Pancreatic insufficiency-anemia-hyperostosis syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 + Dubin-Johnson syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 199348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 + Thiamine-responsive encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287 + Takayasu arteritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 199343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 + EAST syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2800 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800 + Extramammary Paget disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 199326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 + Isolated autosomal dominant hypomagnesemia, Glaudemans type + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 199323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199323 + Endophthalmitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1928 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 + Congenital lobar emphysema + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 + Endocrine-cerebro-osteodysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 + Congenital myopathy, Paradas type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665 + Congenital mesoblastic nephroma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 + Wolfram syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 199633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199633 + Non-syndromic cerebral malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642 + Isolated congenital microcephaly + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 199639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199639 + Syndrome with corpus callosum agenesis/dysgenesis as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=549 + Legionnaires disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=704 + Pemphigus vulgaris + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 199354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 + Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 199351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 + Adult-onset dystonia-parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 + Gerstmann-Straussler-Scheinker syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 + Fatal familial insomnia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 199630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199630 + Isolated cerebellar vermis hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199627 + Atypical autism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 199293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293 + Congenital microgastria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 + Whipple disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 199282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282 + Harlequin syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 199285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 + Hereditary hypercarotenemia and vitamin A deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2331 + Kawasaki disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 199276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276 + Familial multiple lipomatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 + GTP cyclohydrolase I deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 199279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279 + Familial angiolipomatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 199260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199260 + Calcifying aponeurotic fibroma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3002 + Immune thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 199267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267 + Infantile digital fibromatosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 199315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315 + Familial clubfoot with or without associated lower limb anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 + Congenital respiratory-biliary fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 + 15q13.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 + Tetragametic chimerism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357 + Bronchogenic cyst + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 + Bernard-Soulier syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 + Congenital atransferrinemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 199302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302 + Isolated cleft lip + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306 + Cleft lip/palate + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 + Acatalasemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020 + Ramsay Hunt syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 199296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296 + Congenital isolated ACTH deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 + Craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299 + Late-onset isolated ACTH deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 + Dihydropyrimidine dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 189427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427 + Cushing syndrome due to bilateral macronodular adrenocortical disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 + Adenine phosphoribosyltransferase deficiency + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 3129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 + Sarcosinemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 + Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 13 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 + 6-pyruvoyl-tetrahydropterin synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 199257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199257 + Superficial fibromatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2494 + Ménétrier disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171 + Primary sclerosing cholangitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 199251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199251 + Ledderhose disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416 + Congenital primary lymphedema without systemic or visceral involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 199247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247 + Corticosteroid-binding globulin deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 199244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244 + Nelson syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 199241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241 + Pulmonary capillary hemangiomatosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 + Atypical hemolytic uremic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 189466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466 + Familial isolated hypoparathyroidism due to impaired PTH secretion + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 17 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 + Fatal infantile lactic acidosis with methylmalonic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 + Pyridoxine-dependent-developmental and epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=780 + Rhabdomyosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 + Rotor syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 2382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 + Lennox-Gastaut syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806 + Subacute sclerosing leukoencephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2467 + Systemic mastocytosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 + Early infantile developmental and epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 + Tay-Sachs disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 + Epilepsy with myoclonic-atonic seizures + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943 + Early-onset progressive encephalopathy with migrant continuous myoclonus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3299 + Tetanus + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302 + Asbestos intoxication + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 770 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=770 + Rabies + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 3386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3386 + American trypanosomiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 + Calpain-3-related limb-girdle muscular dystrophy R1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329 + Complete atrioventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 + Mucopolysaccharidosis type 4 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137 + Autoimmune hepatitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186 + Primary biliary cholangitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397 + Giant cell arteritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2932 + Chronic inflammatory demyelinating polyneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398 + Multiple symmetric lipomatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1656 + Dermatitis herpetiformis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183763 + Rare genetic syndromic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183770 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183770 + Rare genetic immune disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198 + Stiff person spectrum disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183757 + Rare genetic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 + Juvenile polyposis syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131 + Budd-Chiari syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 + Niemann-Pick disease type C + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654 + Nephroblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1489 + Whooping cough + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764 + Osteochondritis dissecans + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587 + Myeloperoxidase deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3389 + Tuberculosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 1679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1679 + Diphtheria + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 1267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267 + Botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897 + Pityriasis rubra pilaris + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2103 + Guillain-Barré syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183669 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183669 + Agammaglobulinemia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 183666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666 + Hyper-IgM syndrome without susceptibility to opportunistic infections + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070 + Eosinophilic gastroenteritis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 183663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 + Hyper-IgM syndrome with susceptibility to opportunistic infections + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312 + Transient familial neonatal hyperbilirubinemia + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 183707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707 + Infantile LAD-like disease due to RAC2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 + Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 183681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183681 + Congenital functional phagocyte defect + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 183678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 + Hermansky-Pudlak syndrome due to AP-3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449 + Hepatoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 183675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675 + Recurrent infections associated with rare immunoglobulin isotypes deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 + Hydranencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183731 + Rare genetic gynecological and obstetrical diseases + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=533 + Listeriosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372 + Laryngocele + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 183710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183710 + Genetic susceptibility to infections due to particular pathogens + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380 + Legg-Calvé-Perthes disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 683 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 + Progressive supranuclear palsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677 + Pancreatoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 183734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183734 + Genetic gynecological tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 183651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183651 + Rare constitutional anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 183660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660 + Severe combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 + Waardenburg-Shah syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183654 + Rare genetic coagulation disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 183637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183637 + Rare genetic adrenal disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 + Seckel syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 183643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183643 + Genetic polyendocrinopathy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 183628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183628 + Rare genetic hypothalamic or pituitary disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 183625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183625 + Rare genetic diabetes mellitus + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 183634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183634 + Rare genetic parathyroid disease and phosphocalcic metabolism disorder + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 183631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183631 + Rare genetic thyroid disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 183616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183616 + Genetic neuro-ophthalmological disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 3027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 + Caudal regression syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183622 + Genetic respiratory malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183619 + Genetic eye tumor + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 183607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183607 + Genetic lens and zonula anomaly + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 + Autosomal dominant hereditary chronic pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 183589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183589 + Genetic thrombotic microangiopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 183592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183592 + Genetic renal tubular disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 + Giant axonal neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183595 + Genetic renal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 + Netherton syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 + Campomelic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 183576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183576 + Genetic branchial arch or oral-acral syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 + Young-onset Parkinson disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183580 + Genetic malformation syndrome with odontal and/or periodontal component + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 + Hereditary sensory and autonomic neuropathy type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183583 + Genetic head and neck malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183586 + Genetic glomerular disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 183557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183557 + Genetic developmental defect of the eye + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 + Nance-Horan syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183570 + Genetic malformation syndrome with short stature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 + Neurofibromatosis-Noonan syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183573 + Genetic overgrowth/obesity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326 + Congenital factor V deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 183554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183554 + Genetic respiratory or mediastinal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526 + Liddle syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 183548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183548 + Genetic visceral malformation of the liver, biliary tract, pancreas or spleen + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 + LCAT deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427 + Familial hypoaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 183545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183545 + Genetic digestive tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183542 + Genetic cranial malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215 + Congenital stationary night blindness + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 183539 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183539 + Genetic renal or urinary tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 + Familial Mediterranean fever + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 183536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183536 + Genetic congenital limb malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180 + Choroideremia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 183533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183533 + Genetic multiple congenital anomalies/dysmorphic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183530 + Rare genetic developmental defect during embryogenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 + Androgen insensitivity syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253 + Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 183527 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183527 + Genetic bone tumor + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 183524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183524 + Rare genetic bone disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327 + Congenital factor VII deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 183521 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183521 + Rare genetic movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183518 + Hereditary ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183515 + Rare genetic medullar disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 + Simpson-Golabi-Behmel syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183512 + Rare genetic epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183509 + Rare genetic headache + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 + Familial hyperaldosteronism type I + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 183503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183503 + Genetic central nervous system and retinal vascular disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183506 + Genetic central nervous system malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574 + 21q deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183497 + Genetic neuromuscular disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183500 + Genetic neurodegenerative disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 183490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183490 + Genetic photodermatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 + Multiple endocrine neoplasia type 2 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 183494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183494 + Genetic immune deficiency with skin involvement + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146 + Differentiated thyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 183484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183484 + Genetic subcutaneous tissue disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183487 + Genetic skin tumor or hamartoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 + Familial prostate cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 183478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183478 + Genetic skin vascular disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183481 + Genetic mixed dermis disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 + Carnitine palmitoyltransferase II deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 183472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183472 + Genetic dermis disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 + X-linked alpha-thalassemia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183466 + Genetic hyperpigmentation of the skin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183469 + Genetic hypopigmentation of the skin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183460 + Genetic sebaceous gland anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446 + Ring chromosome 22 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183463 + Genetic pigmentation anomaly of the skin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183438 + Genetic erythrokeratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435 + Inherited ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 + ICF syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 183444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183444 + Genetic porokeratosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183441 + Genetic acrokeratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183450 + Genetic hair anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183447 + Genetic epidermal appendage anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 + Isolated Joubert syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 + Holt-Oram syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 183454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183454 + Genetic nail anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 182228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182228 + Systemic autoimmune disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 182222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182222 + Rare systemic disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 + Bazex-Dupré-Christol syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 86 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86 + Familial abdominal aortic aneurysm + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 182231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182231 + Rare rheumatologic disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 + 46,XX gonadal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182734 + Genetic urticaria + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183426 + Genetic epidermal disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 183422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422 + Polymalformative genetic syndrome with increased risk of developing cancer + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182111 + Respiratory malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 + Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 182114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182114 + Rare urogenital tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 48 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 + Congenital bilateral absence of vas deferens + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117 + Non-syndromic urogenital tract malformation of female + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121 + Non-syndromic urogenital tract malformation of male + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124 + Non-syndromic urogenital tract malformation of male and female + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182127 + Extragonadal germinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 182130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182130 + Tumor of endocrine glands + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 + Congenital generalized lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275 + Severe combined immunodeficiency due to DCLRE1C deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 182083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182083 + Channelopathy with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 182086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182086 + Acquired peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 182090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182090 + Pulmonary arterial hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 182095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182095 + Interstitial lung disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 182098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182098 + Pneumoconiosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 + Cherubism + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 182101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182101 + Idiopathic eosinophilic pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 182104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182104 + Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1047 + Sideroblastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 182108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182108 + Thoracic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 + Chylomicron retention disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 182067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182067 + Glial tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 182064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182064 + Rare neuroinflammatory or neuroimmunological disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 182061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182061 + Cerebellar malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182058 + Primary orthostatic hypotension + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 182079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182079 + ARX-related epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 + Self-limited neonatal epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 + Hidrotic ectodermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 + Uveal coloboma-cleft lip and palate-intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182070 + Rare neurodegenerative disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 182040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040 + Rare aplastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 182054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182054 + Rare thrombotic disease of hematologic origin + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 + Isolated atrial standstill + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 182050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 + MYH9-related syndromic thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 182047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182047 + Rare acquired hemolytic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 182043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182043 + Rare constitutional hemolytic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 3103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 + Roberts syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 181428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 + Familial Hyperalphalipoproteinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181419 + Rare hypoaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422 + Rare hyperlipidemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 + Peters plus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 181437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437 + Rare syndromic dyslipidemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441 + Rare disorder with hypergonadotropic hypogonadism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431 + Rare hypolipidemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 + Lujan-Fryns syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 181399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181399 + Rare hyperthyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181402 + Syndrome with hypoparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181393 + Growth hormone insensitivity syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 + Werner syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 181396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181396 + Rare hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 + Van der Woude syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 181412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181412 + Adrenogenital syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181415 + Rare primary hyperaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 181405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181405 + Rare hypoparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 + Hereditary progressive cardiac conduction defect + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 181408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181408 + Rare hyperparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597 + Distal deletion 17q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 + Distal deletion 13q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 + Monosomy 13q14 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621 + 3q13 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 + Distal deletion 3p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643 + Xp22.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627 + Deletion 5q35 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699 + Trisomy 12p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 + Non-distal duplication 10q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 + Noonan syndrome with multiple lentigines + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=507 + Leishmaniasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548 + Leprosy + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 + Duane retraction syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 + Congenital isolated hyperinsulinism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445 + Conotruncal heart malformations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495 + Meningioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 + Familial or sporadic hemiplegic migraine + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014 + Cleft palate + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 + Léri-Weill dyschondrosteosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 + Autosomal recessive spondylocostal dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358 + Gitelman syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 + 46,XY complete gonadal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 + Fraser syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 + Heart defects-limb shortening syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 + Carey-Fineman-Ziter syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557 + Non-syndromic anorectal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 + Barth syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 10 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 + 48,XXYY syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 + C syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150 + Nasopharyngeal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133 + Chronic beryllium disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 + Currarino syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450 + Ring chromosome 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448 + Ring chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581 + Non-distal deletion 10q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580 + Distal deletion 10p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437 + Ring chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 + Progressive familial intrahepatic cholestasis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 1447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447 + Ring chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444 + Ring chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439 + Ring chromosome 12 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 + Ring chromosome 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 + Familial multiple nevi flammei + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 + Inverted duplicated chromosome 15 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 + Trisomy X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310 + Tetrasomy 9p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000 + Familial peripheral male-limited precocious puberty + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305 + Tetraploidy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 + Spina bifida-hypospadias syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708 + Mosaic trisomy 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711 + Mosaic trisomy 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 + Triploidy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692 + Mosaic trisomy 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698 + Mosaic trisomy 12 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706 + Mosaic trisomy 15 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 + Aase-Smith syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 + Ablepharon macrostomia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445 + Ring chromosome 21 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 7 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 + 3C syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 + Isolated acheiropodia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929 + Achalasia-microcephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 + Triple A syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297 + Insulin-resistance syndrome type A + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=922 + Familial nasal acilia + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 + Abruzzo-Erickson syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 27 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 + Vitamin B12-unresponsive methylmalonic acidemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939 + 3-hydroxyisobutyric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 31 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 + Oxoglutaric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935 + Short-limb skeletal dysplasia with severe combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 + Achondrogenesis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 37 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 + Acrodermatitis enteropathica + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 + Acrodysostosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949 + Acrocraniofacial dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945 + Acalvaria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957 + Acropectorovertebral dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958 + Acro-renal-mandibular syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 + Hajdu-Cheney syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 + Acrofacial dysostosis, Weyers type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702 + Non-distal duplication 13q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703 + Mosaic trisomy 14 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1705 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 + Distal duplication 14q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 + 17p11.2 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738 + Trisomy 4p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 + Trisomy 5p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745 + Distal duplication 6p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1752 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752 + Trisomy 8q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 + Proximal Xq28 duplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 + TRIM32-related limb-girdle muscular dystrophy R8 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1876 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 + Oculogastrointestinal muscular dystrophy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 1948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948 + Epilepsy-microcephaly-skeletal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 + Amelocerebrohypohidrotic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 + Epilepsy-telangiectasia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 + Griscelli syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 + Familial visceral myopathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 + Carnitine palmitoyl transferase 1A deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 + Mitochondrial myopathy-lactic acidosis-deafness syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 + Mitochondrial myopathy and sideroblastic anemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 + Thumb stiffness-brachydactyly-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077 + Dental ankylosis + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 1074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 + Ankyloblepharon filiforme adnatum-imperforate anus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 + Ankyloblepharon filiforme adnatum-cleft palate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 + Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 + Aniridia-absent patella syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 + Aniridia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 + Aniridia-ptosis-intellectual disability-familial obesity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 + Aniridia-renal agenesis-psychomotor retardation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 + Hereditary neurocutaneous malformation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 + Vein of Galen malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055 + Congenital left ventricular aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 + Mosaic variegated aneuploidy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 + Metaphyseal anadysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041 + Hydrops fetalis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037 + Arthrogryposis multiplex congenita + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 + Aprosencephaly cerebellar dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125 + Ocular motor apraxia, Cogan type + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 + Radial deficiency-tibial hypoplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 + Lung agenesis-heart defect-thumb anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 + Ulnar hypoplasia-split foot syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 + Aplasia cutis congenita-intestinal lymphangiectasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 + Fibular aplasia-ectrodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 + Aplasia cutis-myopia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 + Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 + Aphalangy-syndactyly-microcephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 + Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 + Microphthalmia with limb anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 + Antley-Bixler syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104 + Anophthalmia plus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094 + Anonychia-microcephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 + PAGOD syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039 + Orofacial clefting syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 990 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 + Agnathia-holoprosencephaly-situs inversus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 + Hypoglossia-hypodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139042 + Malformation syndrome with odontal and/or periodontal component + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 + Fetal akinesia deformation sequence + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 51 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 + Aicardi-Goutières syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139021 + Malformation syndrome with short stature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981 + Internal carotid absence + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139024 + Overgrowth/obesity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 + ADULT syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977 + Adrenomyodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 + Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139033 + Progeroid syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139036 + Branchial arch or oral-acral syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139027 + Rare developmental defect with skin/mucosae involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 + Testicular regression syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139030 + Rare developmental defect with connective tissue involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970 + Hereditary sensory and autonomic neuropathy type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 + Acrorenal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 40 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 + Acromesomelic dysplasia, Maroteaux type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 + Acromicric dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 139012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139012 + Rare bone development disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 + Adams-Oliver syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139009 + Developmental anomaly of metabolic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 + Hereditary continuous muscle fiber activity + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973 + Isolated absence/hypoplasia of fingers excluding thumb, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959 + Acro-renal-ocular syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 + Acromesomelic dysplasia, Hunter-Thompson type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 139411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411 + Carney triad + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 139414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414 + Congenital panfollicular nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 + Amelo-onycho-hypohidrotic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139417 + Acute transverse myelitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 + Enamel-renal syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 139423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139423 + Idiopathic acute transverse myelitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426 + Perioral myoclonia with absences + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431 + Epilepsy with eyelid myoclonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 + Beta-mercaptolactate cysteine disulfiduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 139436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436 + Multicentric reticulohistiocytosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 + Amaurosis-hypertrichosis syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 64 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 + Alström syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 + Congenital generalized hypertrichosis, Ambras type + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 139390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390 + Non-syndromic craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393 + Syndromic craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 + X-linked cerebral adrenoleukodystrophy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 139399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 + Adrenomyeloneuropathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 139402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139402 + Drug reaction with eosinophilia and systemic symptoms + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 139406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 + Encephalopathy due to prosaposin deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 + Alopecia-epilepsy-pyorrhea-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 + Alopecia universalis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 + Autosomal dominant palmoplantar keratoderma and congenital alopecia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 + Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 + 2q37 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 59 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 + Allan-Herndon-Dudley syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 + Scalp defects-postaxial polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 + Alopecia-contractures-dwarfism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 + Ascher syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 + Blepharonasofacial malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 + Maxillonasal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 + Borjeson-Forssman-Lehmann syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 + Tricho-retino-dento-digital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262 + Böök syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 + Boomerang dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259 + Blepharoptosis-myopia-ectopia lentis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261 + Bonnemann-Meinecke-Reich syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 + Bartsocas-Papas syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 + Barber-Say syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 + Pseudo-TORCH syndrome type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 + Bannayan-Riley-Ruvalcaba syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228 + Banki syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 + Bencze syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 + Behr syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237 + Beemer-Ertbruggen syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 + Auriculoosteodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 + Congenital contractural arachnodactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 + Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 + Intractable diarrhea-choanal atresia-eye anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137617 + Nephrogenic systemic fibrosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 + Brachymorphism-onychodysplasia-dysphalangism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628 + Cardiac anomalies-heterotaxy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293 + Brachyolmia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 137625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 + Glycogen storage disease due to muscle and heart glycogen synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 137608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 + Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 + Branchioskeletogenital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137672 + Pellucid marginal degeneration + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 + Autosomal dominant popliteal pterygium syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667 + Capillary malformation-arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 + Overgrowth-macrocephaly-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 + Brachytelephalangy-dysmorphism-Kallmann syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 + Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 + Lambert syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 + Branchio-oculo-facial syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 + Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 137577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137577 + Neonatal hypoxic and ischemic brain injury + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 137583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583 + Vulvar intraepithelial neoplasia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 + Brachydactyly-arterial hypertension syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 + Brachydactyly-elbow wrist dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 + Bowen-Conradi syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 + Legius syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 137593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137593 + Infectious epithelial keratitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 137596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137596 + Neurotrophic keratopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 + Brachydactyly-preaxial hallux varus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137599 + Herpes simplex virus stromal keratitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 137602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137602 + Corneal endotheliitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166 + Congenital unilateral hypoplasia of depressor anguli oris + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 + Ataxia-oculomotor apraxia type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 137820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137820 + Extrapelvic endometriosis + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 1160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1160 + Chylous ascites + + + + 165711 + Rare abdominal surgical disease + + + + Preferential parent + + + + + + 137817 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137817 + Arachnoiditis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 137814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137814 + Macular amyloidosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174 + Cerebellar ataxia-ectodermal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137839 + Lemierre syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 137834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 + Frank-Ter Haar syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 137831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 + X-linked intellectual disability-cerebellar hypoplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 + Autosomal recessive cerebelloparenchymal disorder type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178 + Ataxia-tapetoretinal degeneration syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 + X-linked progressive cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 + Ataxia-hypogonadism-choroidal dystrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179 + Benign paroxysmal tonic upgaze of childhood with ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 + Cerebellar ataxia-hypogonadism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 137867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867 + Madras motor neuron disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 137681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 + Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 + AREDYLD syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 + Histiocytoid cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 1131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 + X-linked mandibulofacial dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 + Spondyloepiphyseal dysplasia with metatarsal shortening + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 137698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137698 + Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 137754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 + Aminoacylase 1 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 + Infantile-onset X-linked spinal muscular atrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 + Arthrogryposis-like hand anomaly-sensorineural deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137686 + Asherman syndrome + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 137776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 + Lethal congenital contracture syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 + Arthrogryposis multiplex congenita-whistling face syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 + Kuskokwim syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137807 + Primary cutaneous amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 + Progressive pseudorheumatoid dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 137810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137810 + Nodular cutaneous amyloidosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 137783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 + Lethal congenital contracture syndrome type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1214 + Progressive hemifacial atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 + Autosomal dominant optic atrophy plus syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 138041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041 + Pierre Robin syndrome associated with collagen disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 + Autosomal dominant congenital benign spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 138047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047 + Pierre Robin syndrome associated with a chromosomal anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 138044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044 + Rare disease with Pierre Robin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 138055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055 + Pierre Robin syndrome associated with bone disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1221 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1221 + Cheilitis glandularis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 138050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050 + Pierre Robin syndrome associated with branchial archs anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 138059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059 + Teratogenic Pierre Robin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 + Baller-Gerold syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 + Bamforth-Lazarus syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227 + Bangstad syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 + Ataxia-photosensitivity-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182 + Spastic ataxia with congenital miosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 137888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 + Auriculocondylar syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893 + Male infertility due to large-headed multiflagellar polyploid spermatozoa + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 1186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 + Infantile-onset spinocerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185 + Spinocerebellar ataxia-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 + Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 + Ataxia-deafness-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905 + Syndromic optic nerve hypoplasia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 + Lethal ataxia with deafness and optic atrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 + Atelosteogenesis type I + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 137908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 + Hypotonia with lactic acidemia and hyperammonemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 137914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914 + Choanal atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193 + Atkin-Flaitz syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917 + Choanal atresia, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 + Burn-McKeown syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920 + Choanal atresia, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 + Colonic atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926 + Primary laryngeal lymphangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137929 + Neonatal brainstem dysfunction + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203 + Duodenal atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 + Pulmonary atresia-intact ventricular septum syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 137932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 + Congenital laryngeal palsy + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 137935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 + Airway infantile hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449 + Ring chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242 + Paramedian nasal cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453 + Cleidorhizomelic syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 141239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239 + Median cleft of the upper lip and maxilla + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440 + Ring chromosome 14 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234 + Median facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443 + Ring chromosome 19 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141229 + Facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261 + Tessier number 5 facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 + Tessier number 4 facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 + CODAS syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253 + Oblique facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 + Joubert syndrome with hepatic defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 + Coats disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 + Benign hereditary chorea + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 141189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189 + Cerebrofacial arteriovenous metameric syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 + Greenberg dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 141184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184 + Rapidly involuting congenital hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 + Autosomal recessive otospondylomegaepiphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 + Xq21 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219 + Nasal dorsum fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 + X-linked skeletal dysplasia-intellectual disability syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 141214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 + Isolated congenital syngnathia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141209 + Diffuse lymphatic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 + Choroidal atrophy-alopecia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155832 + Rare head and neck malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 + Contractures-ectodermal dysplasia-cleft lip/palate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835 + Cysts and fistulae of the face and oral cavity + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 + Biemond syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878 + Submucosal cleft palate + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 + Corneal dystrophy-perceptive deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 + Cooks syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838 + Pinnae fistula or cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155867 + Paramedian facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 + Lethal congenital contracture syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 + Tessier number 7 facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265 + Tessier number 6 facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 + COFS syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269 + Lateral facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 + Coloboma of macula-brachydactyly type B syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288 + Midline cervical cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291 + Cleft lip and alveolus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091 + Polyrrhinia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 + Nasolacrimal duct cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 + Uncombable hair syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 141099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099 + Proboscis lateralis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096 + Supernumerary nostril + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 + Tarsal-carpal coalition syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107 + Nasopharyngeal teratoma + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 141103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103 + Nasal dermoid cyst + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 141115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115 + Nasal ganglioglioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 + Familial calcium pyrophosphate deposition + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 141112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 + Nasal glial heterotopia + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 1394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 + Cerebrofaciothoracic dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051 + Facial dermoid cyst + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 141064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064 + Isolated lower lip fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061 + Commissural lip fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071 + Isolated digestive duplication cyst of the tongue + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 1397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 + Hydrocephaly-cerebellar agenesis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067 + Cervicofacial fibrochondroma + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 1398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398 + Isolated cerebellar agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 + Richards-Rundle syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077 + Epignathus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 + CHAND syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 + External auditory canal aplasia/hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152 + Isolated congenital hypoglossia/aglossia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 + Metaphyseal chondrodysplasia, Schmid type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 141163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 + Glossopalatine ankylosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 + Desbuquois syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 141179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179 + Non-involuting congenital hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 + Nasal encephalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121 + Congenital subglottic stenosis + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 141124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124 + Congenital laryngeal cyst + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 141127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127 + Congenital tracheal stenosis + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 141132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 + Oculo-auriculo-vertebral spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145 + Hemifacial hyperplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148 + Hemifacial myohyperplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 + Spondyloepimetaphyseal dysplasia, matrilin-3 type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 + Cataract-hypertrichosis-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 + Hereditary hyperferritinemia-cataract syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 156643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156643 + Genetic endocrine growth disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 156638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156638 + Rare genetic endocrine disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 156629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156629 + Rare genetic cause of hypertension + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 1373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373 + Cataract-aberrant oral frenula-growth delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156622 + Genetic urogenital tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156619 + Rare genetic urogenital disease + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 1368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 + Cataract-ataxia-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156610 + Rare genetic respiratory disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 + Autosomal recessive palmoplantar keratoderma and congenital alopecia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156607 + Genetic biliary tract disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 156604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156604 + Genetic parenchymatous liver disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 156601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156601 + Rare genetic hepatic disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 156532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156532 + Rare syndrome with cardiac malformations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252 + Tracheal anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 + Carnosinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 + Cerebrocostomandibular syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823 + Klüver-Bucy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 157826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157826 + Congenital epulis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 157808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808 + Isolated pseudoarthrosis of the limbs + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390 + Night blindness-skeletal anomalies-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 + Cold-induced sweating syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 + Cortical blindness-intellectual disability-polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 + Serrated polyposis syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 1388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 + Catel-Manzke syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 + Mesoaxial synostotic syndactyly with phalangeal reduction + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 + Cataract-intellectual disability-hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 + Epithelioid hemangioendothelioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 + Hereditary mixed polyposis syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 157769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 + Situs ambiguus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 + Late infantile CACH syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 157719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 + Juvenile or adult CACH syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380 + Cataract-nephropathy-encephalopathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713 + Congenital or early infantile CACH syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 156731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731 + Dyssegmental dysplasia, Rolland-Desbuquois type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377 + Cataract-microcornea syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 + Hereditary hypophosphatemic rickets with hypercalciuria + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1325 + Camptodactyly-taurinuria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156159 + Isolated dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 + Camptodactyly syndrome, Guadalajara type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156165 + Retinal ciliopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327 + Camptodactyly syndrome, Guadalajara type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156162 + Renal ciliopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 1328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 + Camurati-Engelmann disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 156146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156146 + Predominantly small-vessel vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 + Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156143 + Predominantly medium-vessel vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 + Camptodactyly-joint contractures-facial skeletal defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156152 + Anti-neutrophil cytoplasmic antibody-associated vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 156149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156149 + Immune complex mediated vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1314 + Symmetrical thalamic calcifications + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 156005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005 + Primary early-onset glaucoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 156140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156140 + Predominantly large-vessel vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 + Campomelia, Cumming type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319 + Camptobrachydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889 + Coloboma of inferior eyelid + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 + Feingold syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 + Distal limb deficiencies-micrognathia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884 + Coloboma of superior eyelid + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899 + Mandibulofacial dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 155896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896 + Otomandibular dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313 + Infantile choroidocerebral calcification syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 156237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237 + Syndrome or malformation associated with head and neck malformations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 + Heart-hand syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243 + Pinnae and external auditory canal anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246 + Nose and cavum anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355 + Congenital heart defect-round face-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 + Atrioventricular defect-blepharophimosis-radial and anal defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249 + Larynx anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156212 + Hypoglossia/aglossia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 + Heart-hand syndrome type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156215 + Oromandibular-limb anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156224 + Paralytic facial malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 + Cardiomyopathy-cataract-hip spine disease syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 156180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156180 + Retinal ciliopathy due to mutation in nephronophthisis gene + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338 + Heart defect-tongue hamartoma-polysyndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156183 + Retinal ciliopathy due to mutation in Bardet-Biedl gene + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 156202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202 + Otomandibular dysplasia associated with monogenic syndromes + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 + Cardiofaciocutaneous syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156207 + Macroglossia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156168 + Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 2856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 + Persistent Müllerian duct syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 156171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156171 + Retinal ciliopathy due to mutation in the RPGR gene + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 156174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156174 + Retinal ciliopathy due to mutation in the RPGRIP gene + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 + Hyperkeratosis-hyperpigmentation syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 156177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156177 + Retinal ciliopathy due to mutation in Usher gene + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 + Pentalogy of Cantrell + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1682 + Arterial dissection-lentiginosis syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 1757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757 + Fibular dimelia-diplopodia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 + Caudal duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140162 + Inherited cancer-predisposing syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 + Dysequilibrium syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 + Temtamy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1780 + Thakker-Donnai syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 + 45,X/46,XY mixed gonadal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784 + Acrofrontofacionasal dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 + Dysosteosclerosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 + Hypomandibular faciocranial dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 + Acrofacial dysostosis, Catania type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 + Acrofacial dysostosis, Rodríguez type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 + Transcobalamin deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 139441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 + Hypomyelination with atrophy of basal ganglia and cerebellum + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 + Steroid dehydrogenase deficiency-dental anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444 + Leukoencephalopathy with bilateral anterior temporal lobe cysts + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447 + Progressive cavitating leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 + Hypotrichosis with juvenile macular degeneration + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 + Alpers-Huttenlocher syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 139450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450 + Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 + Autosomal recessive bestrophinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574 + Retinal degeneration-nanophthalmos-glaucoma syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 139466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 + SERKAL syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596 + Distal deletion 15q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 + Microphthalmia with brain and digit anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 + 17q11.2 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 + 1p36 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 + Autosomal recessive spastic paraplegia type 39 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 + Oculocerebrocutaneous syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 + Autosomal recessive ataxia due to ubiquinone deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653 + Dentin dysplasia + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 139507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 + Dietary iron overload disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 139515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 + Charcot-Marie-Tooth disease type 4J + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 + Neuropathy with hearing impairment + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657 + Dermatoosteolysis, Kirghizian type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 + Distal hereditary motor neuropathy type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 + Absence of fingerprints-congenital milia syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 139518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 + Distal hereditary motor neuropathy type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1659 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659 + Dermatoleukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 + Distal spinal muscular atrophy type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 + Distal hereditary motor neuropathy type 5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 + Dermoodontodysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 + X-linked distal spinal muscular atrophy type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661 + X-linked corneal dermoid + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 + Restrictive dermopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 + Distal hereditary motor neuropathy, Jerash type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573 + Hereditary sensory and autonomic neuropathy with deafness and global delay + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665 + Sporadic fetal brain disruption sequence + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 139564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564 + Hereditary sensory and autonomic neuropathy type 1B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583 + X-linked hereditary sensory and autonomic neuropathy with deafness + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 + Wolcott-Rallison syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 139578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 + Mutilating hereditary sensory neuropathy with spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 139589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 + Distal hereditary motor neuropathy type 7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 + Split cord malformation type I + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917 + Stapes ankylosis with broad thumbs and toes + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 + Cryptorchidism-arachnodactyly-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547 + Cryptomicrotia-brachydactyly-excess fingertip arch syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 + Titin-related limb-girdle muscular dystrophy R10 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545 + Crisponi syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 140905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 + Hyperlipidemia due to hepatic triacylglycerol lipase deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 + Jackson-Weiss syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 + Brachydactyly type B2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 + Joubert syndrome and related disorders + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140896 + Severe acute respiratory syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 + Gómez-López-Hernández syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 + Syndactyly-telecanthus-anogenital and renal malformations syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957 + Autosomal dominant macrothrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 140944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 + CLOVES syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140949 + Low-flow priapism + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 1555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 + Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936 + Lelis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 + Short stature due to primary acid-labile subunit deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 + Curry-Jones syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 + Self-limited neonatal-infantile epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 140933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933 + Linear atrophoderma of Moulin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 140989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989 + Primary angiitis of the central nervous system + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 + Dandy-Walker malformation-postaxial polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 + RHYNS syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 + Dahlberg-Borer-Newcomer syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 + Saldino-Mainzer syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 140966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966 + Palmoplantar keratoderma, Nagashima type + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 140963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 + Bilateral microtia-deafness-cleft palate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046 + Cervical dermoid cyst + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 + Guanidinoacetate methyltransferase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 + Prolidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 141037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037 + Fourth branchial cleft anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030 + Third branchial cleft anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022 + Second branchial cleft anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979 + Lipodystrophy due to peptidic growth factors deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 141013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013 + First branchial cleft anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 + Knobloch syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 + Orofaciodigital syndrome type 9 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551 + Familial benign copper deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 + X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 141000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 + Orofaciodigital syndrome type 11 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 + Orofaciodigital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 + X-linked complicated corpus callosum dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 + Familial intraosseous vascular malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140453 + Autosomal dominant hereditary demyelinating motor and sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 + Vici syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140286 + Secondary hypoparathyroidism due to impaired parathormon secretion + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 + Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 + Autosomal recessive distal hereditary motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509 + Coxopodopatellar syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140471 + Hereditary sensory and autonomic neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 + Crane-Heise syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140474 + Autosomal dominant hereditary sensory and autonomic neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 140477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140477 + Autosomal recessive hereditary sensory and autonomic neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506 + Thin ribs-tubular bones-dysmorphism syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 140456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140456 + Autosomal dominant hereditary axonal motor and sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 140459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140459 + Autosomal recessive hereditary demyelinating motor and sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508 + Coxoauricular syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 140465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 + Autosomal dominant distal hereditary motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 + Autosomal recessive Robinow syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 + Cantú syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 + SPECC1L-related hypertelorism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 + Craniofrontonasal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 + Craniodiaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514 + Craniodigital-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481 + Autosomal dominant slowed nerve conduction velocity + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 + Cranioectodermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516 + Non-syndromic bilambdoid and sagittal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1527 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 + Craniosynostosis, Philadelphia type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 140653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140653 + Neuro-ophthalmological disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 + Craniotelencephalic dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 + Craniofacial-deafness-hand syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1521 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521 + Craniofrontonasal dysplasia-Poland anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 + Craniometaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 + Cranio-osteoarthropathy + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969 + Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968 + Flat face-microstomia-ear anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 + Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 + Faciocardiorenal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 + Lethal faciocardiomelic dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 + Autosomal recessive faciodigitogenital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962 + Exostoses-anetodermia-brachydactyly type E syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 + Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822 + Dysplasia epiphysealis hemimelica + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 + Lowry-Wood syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952 + Epiphyseal stippling-osteoclastic hyperplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954 + Congenital lethal erythroderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 + Spinocerebellar ataxia type 34 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 + Diabetic embryopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 + Maternal phenylketonuria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927 + Emery-Nelson syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937 + Eng-Strom syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 + Toluene embryopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 + Phenobarbital embryopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 + Fetal methylmercury syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 + Methimazole embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 + Fetal hydantoin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 + Fetal minoxidil syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 + Cocaine embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 + Fetal iodine syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 + Diethylstilbestrol syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294 + Fetal cytomegalovirus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 + Vitamin K antagonist embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 + Fetal trimethadione syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 + EEC syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 + EEM syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 + Aminopterin/methotrexate embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 + Indomethacin embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 + Fetal valproate spectrum disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895 + Edinburgh malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 + Intellectual disability-spasticity-ectrodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 + Ectrodactyly-polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 + Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 + Focal facial dermal dysplasia type III + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 + Ectodermal dysplasia, trichoodontoonychial type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1883 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 + Ectodermal dysplasia-sensorineural deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 + Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875 + Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 + Jalili syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 + Melorheostosis with osteopoikilosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 + Hereditary bullous dystrophy, macular type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 + Cone rod dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871 + Progressive cone dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 + Thanatophoric dysplasia type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 + Thoracic dysplasia-hydrocephalus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 + Dyssegmental dysplasia, Silverman-Handmaker type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 + Skeletal dysplasia-epilepsy-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254 + Spondylometaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842 + Bone dysplasia, lethal Holmgren type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839 + Hereditary mucoepithelial dysplasia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837 + Metaphyseal chondrodysplasia, Rosenberg type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836 + Mesomelic dysplasia, Kantaputra type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 + Axial mesodermal dysplasia spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 + Schimke immuno-osseous dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 + Epiphyseal dysplasia-hearing loss-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 + Multiple epiphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 + Odontomicronychial dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 + Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808 + Hidrotic ectodermal dysplasia, Christianson-Fourie type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 + Hidrotic ectodermal dysplasia, Halal type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 + Ectodermal dysplasia-blindness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 + Ghosal hematodiaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 + Thoracomelic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801 + Kyphomelic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798 + Craniofacial dysostosis-diaphyseal hyperplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1799 + Familial developmental dysphasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 + Oculomaxillofacial dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 + Isolated hemihyperplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130 + Non-syndromic hemimelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 + Hennekam syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 + 46,XX ovotesticular difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139 + Hernández-Aguirre Negrete syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141 + Diaphragmatic defect-limb deficiency-skull defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 + Donnai-Barrow syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145 + Craniosynostosis, Herrmann-Opitz type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 + Nodular neuronal heterotopia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 + Lissencephaly type 1 due to doublecortin gene mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158048 + Hemophagocytic syndrome associated with an infection + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 158057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158057 + Acquired hemophagocytic lymphohistiocytosis associated with malignant disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 + Hallermann-Streiff syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061 + Macrophage activation syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107 + Hall-Riggs syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110 + Hallux varus-preaxial polysyndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 + Hallermann-Streiff-like syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111 + Cystic hamartoma of lung and kidney + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158124 + Genetic dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 158266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158266 + Huntington disease-like syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 + Harrod syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158300 + Rare genetic hematologic disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 + Hip dysplasia, Beukes type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994 + Short stature-craniofacial anomalies-genital hypoplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 + Hartsfield syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 + HEC syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123 + Multifocal infantile hemangioma with extracutenous involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997 + Benign cephalic histiocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 + GMS syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091 + Multinodular goiter-cystic kidney-polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991 + Generalized eruptive histiocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 157987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157987 + Non-Langerhans cell histiocytosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 158011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158011 + Necrobiotic xanthogranuloma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 158008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008 + Papular xanthoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 + Gordon syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003 + Xanthoma disseminatum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 + Focal dermal hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000 + Juvenile xanthogranuloma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 + Acromesomelic dysplasia, Grebe type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 158025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025 + Hereditary progressive mucinous histiocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 158022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022 + Progressive nodular histiocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 + Greig cephalopolysyndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 + Gorlin-Chaudhry-Moss syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 158019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019 + Indeterminate cell histiocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 158014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014 + Rosaï-Dorfman disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 + Grant syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 158041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158041 + Secondary hemophagocytic lymphohistiocytosis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 + Grubben-de Cock-Borghgraef syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158038 + Primary hemophagocytic lymphohistiocytosis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104 + Dysmorphism-pectus carinatum-joint laxity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158032 + Hemophagocytic syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 157843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157843 + Trigeminal autonomic cephalalgia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 + Gastrocutaneous syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 157846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 + Neuroferritinopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 157832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 + Craniorhiny + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 + GAPO syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157835 + Paroxysmal hemicrania + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 + Galloway-Mowat syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 + Genitopalatocardiac syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 + Huntington disease-like 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 + Gemignani syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 + Pantothenate kinase-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 + Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 157954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 + ANE syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 + Oculoauricular syndrome, Schorderet type + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 157946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 + Huntington disease-like 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 + Geroderma osteodysplastica + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 157949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 + Combined immunodeficiency with granulomatosis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 + German syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 + Congenital muscular dystrophy due to LMNA mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085 + Glaucoma-sleep apnea syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 2084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 + Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 157965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 + SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083 + Prominent glabella-microcephaly-hypogenitalism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 + Frontofacionasal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 + Frontometaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 + Flynn-Aird syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2048 + Foix-Chavany-Marie syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 + Cole-Carpenter syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 + Splenogonadal fusion-limb defects-micrognathia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064 + Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250 + Frontonasal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 + Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 + Fryns syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 + Gingival fibromatosis-hypertrichosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025 + Gingival fibromatosis-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 + Juvenile hyaline fibromatosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 + Gingival fibromatosis-progressive deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 + Fibrochondrogenesis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019 + Femur-fibula-ulna complex + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 + Hereditary gingival fibromatosis + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 2022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 + Endocardial fibroelastosis + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824 + Paraplegia-intellectual disability-hyperkeratosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045 + FLOTCH syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 + Floating-Harbor syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 + Hepatic fibrosis-renal cysts-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 + Scalp-ear-nipple syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769 + Plaque-form urticaria pigmentosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006 + Median cleft lip/mandible + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766 + Typical urticaria pigmentosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007 + Alar cartilages hypoplasia-coloboma-telecanthus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 + Cleft lip/palate-deafness-sacral lipoma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158687 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 + Lethal acantholytic erosive disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 158684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 + Epidermolysis bullosa simplex with pyloric atresia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 + Laryngotracheoesophageal cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 + Cleft lip/palate-intestinal malrotation-cardiopathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 + Epidermolysis bullosa simplex with circinate migratory erythema + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 158676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 + Localized dystrophic epidermolysis bullosa, nails only + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 158673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 + Localized dystrophic epidermolysis bullosa, acral form + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 158668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 + Ectodermal dysplasia-skin fragility syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 + Cleft palate-lateral synechia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2017 + Sternal cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013 + Cleft palate-large ears-small head syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010 + Cleft palate-stapes fixation-oligodontia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 158778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158778 + Isolated bone marrow mastocytosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 158775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158775 + Smoldering systemic mastocytosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 158772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772 + Nodular urticaria pigmentosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 + Acrocardiofacial syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987 + Isolated femoral agenesis/hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 + Gollop-Wolfgang complex + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 + Bilateral striopallidodentate calcinosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 + Blepharo-cheilo-odontic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 + Pai syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 + Femoral-facial syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 + Familial partial lipodystrophy, Dunnigan type + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 247775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 + Mayer-Rokitansky-Küster-Hauser syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 + Müllerian aplasia and hyperandrogenism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351 + Kousseff syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 + Schilbach-Rott syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 + FTH1-related iron overload + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 247798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 + MUTYH-related polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 247794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 + Juvenile cataract-microcornea-renal glucosuria syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 247815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 + Autosomal recessive ataxia due to PEX10 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 + Lacrimoauriculodentodigital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247691 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 + Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 + Keratosis follicularis spinulosa decalvans + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 247685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 + Odontohypophosphatasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 + Multiple endocrine neoplasia type 2B + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 + Haim-Munk syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 + Multiple endocrine neoplasia type 2A + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 247724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247724 + Idiopathic eosinophilic myositis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 247718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247718 + Inflammatory myopathy with abundant macrophages + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 247765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247765 + X-linked cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 + Kniest dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247762 + Lipoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347 + Lethal Kniest-like dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 + Citrullinemia type II + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 + Kenny-Caffey syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 + Neonatal intrahepatic cholestasis due to citrin deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 + KBG syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604 + Juvenile primary lateral sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 247623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 + Perinatal lethal hypophosphatasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 + Prenatal benign hypophosphatasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338 + Isolated punctate palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 + Diffuse palmoplantar keratoderma, Bothnian type + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 247651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 + Infantile hypophosphatasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 + Childhood-onset hypophosphatasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 + Keratosis follicularis-dwarfism-cerebral atrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 + Adult hypophosphatasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 + Keratoderma hereditarium mutilans + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 + Kabuki syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378 + Autosomal recessive secondary polycythemia not associated with VHL gene + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 + Jung syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 + Osteopenia-intellectual disability-sparse hair syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 + Autosomal dominant secondary polycythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 + Sanjad-Sakati syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 + Primary ciliary dyskinesia-retinitis pigmentosa syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 247525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525 + Citrullinemia type I + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 247546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 + Acute neonatal citrullinemia type I + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 + Epidermolysis bullosa simplex with anodontia/hypodontia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 247573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 + Late-onset citrullinemia type I + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329 + Karsch-Neugebauer syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582 + Citrin deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 + Kapur-Toriello syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 248404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248404 + Rare thrombotic disorder due to an acquired platelet anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 + Lowe-Kohn-Cohen syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 248401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248401 + Rare thrombotic disorder due to a constitutional platelet anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 + Lowry-MacLean syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405 + Thickened earlobes-conductive deafness syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 248368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248368 + Rare thrombotic disorder due to a platelet anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 248365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248365 + Rare thrombotic disorder due to an acquired coagulation factors defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 + Laryngo-onycho-cutaneous syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 250165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250165 + Genetic polycythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412 + Dislocation of the hip-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575 + Cystic fibrosis-gastritis-megaloblastic anemia syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 248408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 + Familial hypodysfibrinogenemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410 + Hypergonadotropic hypogonadism-cataract syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 248326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248326 + Rare hemorrhagic disorder due to a platelet anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399 + Nasopalpebral lipoma-coloboma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 248315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248315 + Rare hemorrhagic disorder due to a coagulation factors defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2400 + Peripheral motor neuropathy-dysautonomia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 248308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248308 + Rare hemorrhagic disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 + Encephalocraniocutaneous lipomatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 248361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248361 + Rare thrombotic disorder due to a constitutional coagulation factors defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 248358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248358 + Rare thrombotic disorder due to a coagulation factors defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 248347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248347 + Rare hemorrhagic disorder due to an acquired platelet anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 248340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 + Isolated delta-storage pool disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 + Choreoacanthocytosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 248111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 + Juvenile Huntington disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387 + Leukonychia totalis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386 + Leukoencephalopathy-palmoplantar keratoderma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 248095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095 + Primary hypertrophic osteoarthropathy + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 + Early-onset parkinsonism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 248302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248302 + Rare acquired deficiency anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2391 + Congenitally short costocoracoid ligament + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 248293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248293 + Rare deficiency anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390 + Lichtenstein syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 248296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248296 + Constitutional deficiency anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 247834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 + Occult macular dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 2371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 + Lethal Larsen-like syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369 + Limb body wall complex + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 + Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827 + Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 + Laurin-Sandrow syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 + NLRP12-associated hereditary periodic fever syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375 + Laryngeal abductor paralysis-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2456 + Familial supernumerary nipples + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 2457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 + Mandibuloacral dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 + Mucocutaneous venous malformations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 + Patterson-Stevenson-Fontaine syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 244305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 + Dominant hypophosphatemia with nephrolithiasis or osteoporosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 244283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 + Biliary atresia with splenic malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 + Isolated split hand-split foot malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 244310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 + RFT1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 244242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242 + HELLP syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 + Ollier disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437 + Czeizel-Losonci syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 244275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275 + De novo thrombotic microangiopathy after kidney transplantation + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 2438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 + Hand-foot-genital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 243343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 + Dimethylglycine dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 243367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367 + Acute fatty liver of pregnancy + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 2435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 + Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 + Macrocephaly-spastic paraplegia-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 + Macrosomia-microphthalmia-cleft palate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 + Upper limb defect-eye and ear abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353 + Generalized pustular psoriasis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 247262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 + Hyperphosphatasia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487 + Lower limb malformation-hypospadias syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247257 + Inhalational anthrax + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 247245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247245 + Superficial siderosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 247242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247242 + Acquired ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 + Melorheostosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247239 + Non-hereditary degenerative ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 247234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247234 + Sporadic adult-onset ataxia of unknown etiology + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2483 + Melkersson-Rosenthal syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 247203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203 + Collecting duct carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 + Melnick-Needles syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 247198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 + Progressive cerebello-cerebral atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481 + Neurocutaneous melanocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482 + Melhem-Fahl syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247165 + Infantile mercury poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 2477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 + Isolated megalencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 + Megalocornea-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 + White forelock with malformations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476 + Dysraphism-cleft lip/palate-limb reduction defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473 + McKusick-Kaufman syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 + McDonough syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 + Matthew-Wood syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 + Marshall-Smith syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464 + Marfanoid syndrome, De Silva type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 + Marinesco-Sjögren syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463 + Marfanoid habitus-autosomal recessive intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 + Shprintzen-Goldberg syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 + Marden-Walker syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630 + Anaplastic oligodendroglioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172 + Microcephaly-glomerulonephritis-marfanoid habitus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636 + Ependymoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251639 + Subependymoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251643 + Myxopapillary ependymoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 + Infantile systemic hyalinosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 251646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251646 + Anaplastic ependymoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251651 + Oligoastrocytic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181 + Hydrocephaly-tall stature-joint laxity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251656 + Oligoastrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180 + Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251663 + Anaplastic oligoastrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 + Hydrocephalus-blue sclerae-nephropathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251668 + Glial tumor of neuroepithelial tissue with unknown origin + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671 + Angiocentric glioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 + Hydrolethalus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251674 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251674 + Chordoid glioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251679 + Astroblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312 + Autosomal dominant epidermolytic ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 + Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 251852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251852 + Embryonal tumor of neuroepithelial tissue + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576 + Gliosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251561 + High-grade astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 + Hirschsprung disease-type D brachydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582 + Gliomatosis cerebri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251579 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579 + Giant cell glioblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 + Mowat-Wilson syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 + Hirschsprung disease-nail hypoplasia-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251592 + Low-grade astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589 + Anaplastic astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598 + Protoplasmic astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 + Hirschsprung disease-deafness-polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595 + Diffuse astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251604 + Gemistocytic astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251601 + Fibrillary astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158 + Histidinuria-renal tubular defect syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 251612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612 + Pilocytic astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 + Holoprosencephaly-craniosynostosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607 + Pleomorphic xanthoastrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251618 + Subependymal giant cell astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165 + Holoprosencephaly-caudal dysgenesis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615 + Pilomyxoid astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166 + Holoprosencephaly-postaxial polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627 + Oligodendroglioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 + Holzgreve syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251623 + Pituicytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 + Methylcobalamin deficiency type cblE + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 251927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251927 + Extraventricular neurocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251931 + Cerebellar liponeurocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 + Hypertrichosis lanuginosa congenita + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251919 + Pineal parenchymal tumor of intermediate differentiation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 + Hypertrichosis cubiti + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251924 + Neuronal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 + Ramos-Arroyo syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251940 + Desmoplastic infantile astrocytoma/ganglioglioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251946 + Dysembryoplastic neuroepithelial tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 + Hypodontia-dysplasia of nails syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251934 + Mixed neuronal-glial tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 + Hypertryptophanemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 251937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251937 + Gangliocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232 + Primary hypergonadotropic hypogonadism-partial alopecia syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 251962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251962 + Papillary glioneuronal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251975 + Rosette-forming glioneuronal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 + Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 251949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251949 + Ganglioglioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 + Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251957 + Anaplastic ganglioglioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006 + Yolk sac tumor of central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238 + Familial isolated hypoparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 252015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015 + Choriocarcinoma of the central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 + Hypoparathyroidism-sensorineural deafness-renal disease syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 2235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 + Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 251992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251992 + Ganglioneuroma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251995 + Primary germ cell tumor of central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 + Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251867 + Classic medulloblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199 + Epidermolytic palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863 + Desmoplastic/nodular medulloblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200 + Focal palmoplantar and gingival keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 + Palmoplantar keratoderma-esophageal carcinoma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858 + Medulloblastoma with extensive nodularity + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495 + Transgrediens et progrediens palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251855 + Anaplastic/large cell medulloblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206 + Ankylosing vertebral hyperostosis with tylosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201 + Palmoplantar keratoderma-spastic paralysis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877 + Ganglioneuroblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 + Palmoplantar keratoderma-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251870 + Central nervous system embryonal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251902 + Atypical papilloma of choroid plexus + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899 + Choroid plexus carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 + Hypertelorism-microtia-facial clefting syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251896 + Choroid plexus tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211 + Hypertelorism-hypospadias-polysyndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251915 + Papillary tumor of the pineal region + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251912 + Pineocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 + Cervical hypertrichosis-peripheral neuropathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909 + Pineoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 + Multiple pterygium-malignant hyperthermia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251905 + Pineal tumor of neuroepithelial tissue + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 + Maternal hyperthermia-induced birth defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 + 2q32q33 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 + Hypotrichosis-intellectual disability, Lopes type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 + SATB2-associated syndrome due to a chromosomal rearrangement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 + Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038 + 3q29 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999 + 1q41q42 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 + Hypospadias-intellectual disability, Goldblatt type syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004 + Paternal uniparental disomy of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009 + Maternal uniparental disomy of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 + Pallister-Hall syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014 + 2q31.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 + Superficial epidermolytic ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061 + 7q31 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066 + 8p11.2 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 + Ichthyosis-oral and digital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 + 8p23.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 + Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 251076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076 + 8p23.1 duplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 + Ichthyosis follicularis-alopecia-photophobia syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043 + Ring chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 + Neutral lipid storage disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 + CHILD syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046 + 6p22 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 + Harlequin ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271 + Congenital ichthyosis-microcephalus-tetraplegia syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056 + 6q25.2q25.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250808 + Serpinopathy with toxic serpin polymerization + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 250805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250805 + Serpinopathy + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 2246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246 + Cerebellar hypoplasia-tapetoretinal degeneration syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 250831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250831 + Logopenic progressive aphasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 + Ulna hypoplasia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250811 + Serpinopathy with loss of serpin function + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 2239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239 + Familial isolated hypoparathyroidism due to agenesis of parathyroid gland + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 + Megacystis-microcolon-intestinal hypoperistalsis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 + Autosomal recessive Stickler syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 + Fibulo-ulnar hypoplasia-renal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 + Primary pulmonary hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 + AICA-ribosiduria + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 250994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994 + 1q21.1 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989 + 1q21.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 + Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 + Isolated aniridia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251 + Thumb deformity-alopecia-pigmentation anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250908 + Rare neoplastic disease + + + + + 892 + Von Hippel-Lindau disease + + + Preferential parent + + + + + + 652 + Multiple endocrine neoplasia type 1 + + + Preferential parent + + + + + + 790 + Retinoblastoma + + + Preferential parent + + + + + + 524 + Li-Fraumeni syndrome + + + Preferential parent + + + + + + 635 + Neuroblastoma + + + Preferential parent + + + + + + 2420 + Primary pulmonary lymphoma + + + Preferential parent + + + + + + 2665 + Congenital mesoblastic nephroma + + + Preferential parent + + + + + + 2800 + Extramammary Paget disease + + + Preferential parent + + + + + + 449 + Hepatoblastoma + + + Preferential parent + + + + + + 677 + Pancreatoblastoma + + + Preferential parent + + + + + + 654 + Nephroblastoma + + + Preferential parent + + + + + + 780 + Rhabdomyosarcoma + + + Preferential parent + + + + + + 2467 + Systemic mastocytosis + + + Preferential parent + + + + + + 1331 + Familial prostate cancer + + + Preferential parent + + + + + + 146 + Differentiated thyroid carcinoma + + + Preferential parent + + + + + + 653 + Multiple endocrine neoplasia type 2 + + + Preferential parent + + + + + + 2495 + Meningioma + + + Preferential parent + + + + + + 150 + Nasopharyngeal carcinoma + + + Preferential parent + + + + + + 2905 + POEMS syndrome + + + Preferential parent + + + + + + 2969 + Proteus-like syndrome + + + Preferential parent + + + + + + 144 + Lynch syndrome + + + Preferential parent + + + + + + 542 + Primary cutaneous lymphoma + + + Preferential parent + + + + + + 145 + Hereditary breast and/or ovarian cancer syndrome + + + Preferential parent + + + + + + 2584 + Classic mycosis fungoides + + + Preferential parent + + + + + + 3162 + Sézary syndrome + + + Preferential parent + + + + + + 2086 + Optic pathway glioma + + + Preferential parent + + + + + + 2023 + Undifferentiated pleomorphic sarcoma + + + Preferential parent + + + + + + 618 + Familial melanoma + + + Preferential parent + + + + + + 519 + Acute myeloid leukemia + + + Preferential parent + + + + + + 521 + Chronic myeloid leukemia + + + Preferential parent + + + + + + 1333 + Familial pancreatic carcinoma + + + Preferential parent + + + + + + 1501 + Adrenocortical carcinoma + + + Preferential parent + + + + + + 513 + Acute lymphoblastic leukemia + + + Preferential parent + + + + + + 1957 + Esthesioneuroblastoma + + + Preferential parent + + + + + + 2030 + Fibrosarcoma + + + Preferential parent + + + + + + 2126 + Solitary fibrous tumor + + + Preferential parent + + + + + + 3148 + Malignant peripheral nerve sheath tumor + + + Preferential parent + + + + + + 3273 + Synovial sarcoma + + + Preferential parent + + + + + + 391 + Classic Hodgkin lymphoma + + + Preferential parent + + + + + + 543 + Burkitt lymphoma + + + Preferential parent + + + + + + 541 + Primary cutaneous CD30+ T-cell lymphoproliferative disease + + + Preferential parent + + + + + + 301 + Ependymal tumor + + + Preferential parent + + + + + + 616 + Medulloblastoma + + + Preferential parent + + + + + + 360 + Glioblastoma + + + Preferential parent + + + + + + 94 + Astrocytoma + + + Preferential parent + + + + + + 668 + Osteosarcoma + + + Preferential parent + + + + + + 319 + Skeletal Ewing sarcoma + + + Preferential parent + + + + + + 876 + Yolk sac tumor + + + Preferential parent + + + + + + 883 + Extragonadal teratoma + + + Preferential parent + + + + + + 842 + Testicular seminomatous germ cell tumor + + + Preferential parent + + + + + + 3398 + Thymic epithelial neoplasm + + + Preferential parent + + + + + + 547 + Non-Hodgkin lymphoma + + + Preferential parent + + + + + + 3399 + Germ cell tumor + + + Preferential parent + + + + + + 3394 + Soft tissue sarcoma + + + Preferential parent + + + + + + 178 + Chordoma + + + Preferential parent + + + + + + 520 + Acute promyelocytic leukemia + + + Preferential parent + + + + + + 517 + Acute myelomonocytic leukemia + + + Preferential parent + + + + + + 514 + Acute monoblastic/monocytic leukemia + + + Preferential parent + + + + + + 318 + Acute erythroid leukemia + + + Preferential parent + + + + + + 518 + Acute megakaryoblastic leukemia + + + Preferential parent + + + + + + 874 + Primary adult heart tumor + + + Preferential parent + + + + + + 875 + Primary pediatric heart tumor + + + Preferential parent + + + + + + 122 + Birt-Hogg-Dubé syndrome + + + Preferential parent + + + + + + 523 + Hereditary leiomyomatosis and renal cell cancer + + + Preferential parent + + + + + + 873 + Desmoid tumor + + + Preferential parent + + + + + + 143 + Parathyroid carcinoma + + + Preferential parent + + + + + + 142 + Anaplastic thyroid carcinoma + + + Preferential parent + + + + + + 877 + Neuroendocrine neoplasm + + + Preferential parent + + + + + + 1332 + Medullary thyroid carcinoma + + + Preferential parent + + + + + + 824 + Primary myelofibrosis + + + Preferential parent + + + + + + 544 + Diffuse large B-cell lymphoma + + + Preferential parent + + + + + + 545 + Follicular lymphoma + + + Preferential parent + + + + + + 26106 + Hereditary diffuse gastric cancer + + + Preferential parent + + + + + + 26790 + Pseudomyxoma peritonei + + + Preferential parent + + + + + + 29073 + Multiple myeloma + + + Preferential parent + + + + + + 31112 + Dermatofibrosarcoma protuberans + + + Preferential parent + + + + + + 33111 + Granulomatous slack skin + + + Preferential parent + + + + + + 33226 + Waldenström macroglobulinemia + + + Preferential parent + + + + + + 33276 + Kaposi sarcoma + + + Preferential parent + + + + + + 33402 + Pediatric hepatocellular carcinoma + + + Preferential parent + + + + + + 35807 + Malignant germ cell tumor of ovary + + + Preferential parent + + + + + + 35808 + Malignant sex cord stromal tumor of ovary + + + Preferential parent + + + + + + 36273 + Gastric linitis plastica + + + Preferential parent + + + + + + 39044 + Uveal melanoma + + + Preferential parent + + + + + + 68336 + Rare genetic tumor + + + Preferential parent + + + + + + 68347 + Tumor of hematopoietic and lymphoid tissues + + + Preferential parent + + + + + + 68411 + Rare bone tumor + + + Preferential parent + + + + + + 44890 + Gastrointestinal stromal tumor + + + Preferential parent + + + + + + 46135 + Primary central nervous system lymphoma + + + Preferential parent + + + + + + 46484 + Oligodendroglial tumor + + + Preferential parent + + + + + + 47044 + Hereditary papillary renal cell carcinoma + + + Preferential parent + + + + + + 48686 + Primary effusion lymphoma + + + Preferential parent + + + + + + 48736 + Embryonal carcinoma of the central nervous system + + + Preferential parent + + + + + + 50251 + Pleural mesothelioma + + + Preferential parent + + + + + + 52416 + Mantle cell lymphoma + + + Preferential parent + + + + + + 52417 + MALT lymphoma + + + Preferential parent + + + + + + 52688 + Myelodysplastic syndrome + + + Preferential parent + + + + + + 52994 + Orbital leiomyoma + + + Preferential parent + + + + + + 54272 + Hepatocellular adenoma + + + Preferential parent + + + + + + 55880 + Chondrosarcoma + + + Preferential parent + + + + + + 55881 + Adamantinoma + + + Preferential parent + + + + + + 56044 + Carcinoma of gallbladder and extrahepatic biliary tract + + + Preferential parent + + + + + + 58017 + Classic hairy cell leukemia + + + Preferential parent + + + + + + 58040 + Osteoblastoma + + + Preferential parent + + + + + + 59305 + Gestational trophoblastic neoplasm + + + Preferential parent + + + + + + 63443 + Rare epithelial tumor of stomach + + + Preferential parent + + + + + + 64720 + Leiomyosarcoma + + + Preferential parent + + + + + + 64741 + Pulmonary blastoma + + + Preferential parent + + + + + + 64742 + Pleuropulmonary blastoma + + + Preferential parent + + + + + + 66627 + Tenosynovial giant cell tumor + + + Preferential parent + + + + + + 66661 + Mast cell sarcoma + + + Preferential parent + + + + + + 66662 + Extracutaneous mastocytoma + + + Preferential parent + + + + + + 67037 + Squamous cell carcinoma of head and neck + + + Preferential parent + + + + + + 67038 + B-cell chronic lymphocytic leukemia + + + Preferential parent + + + + + + 69077 + Rhabdoid tumor + + + Preferential parent + + + + + + 69078 + Liposarcoma + + + Preferential parent + + + + + + 70482 + Carcinoma of esophagus + + + Preferential parent + + + + + + 70567 + Cholangiocarcinoma + + + Preferential parent + + + + + + 70568 + Post-transplant lymphoproliferative disease + + + Preferential parent + + + + + + 70573 + Small cell lung cancer + + + Preferential parent + + + + + + 71209 + Rare soft tissue tumor + + + Preferential parent + + + + + + 71274 + Disseminated peritoneal leiomyomatosis + + + Preferential parent + + + + + + 79105 + Myxofibrosarcoma + + + Preferential parent + + + + + + 79140 + Cutaneous neuroendocrine carcinoma + + + Preferential parent + + + + + + 83469 + Desmoplastic small round cell tumor + + + Preferential parent + + + + + + 86829 + Chronic neutrophilic leukemia + + + Preferential parent + + + + + + 86830 + Chronic myeloproliferative disease, unclassifiable + + + Preferential parent + + + + + + 86834 + Juvenile myelomonocytic leukemia + + + Preferential parent + + + + + + 86836 + Refractory cytopenia with multilineage dysplasia + + + Preferential parent + + + + + + 86839 + Myelodysplastic neoplasm with increased blasts + + + Preferential parent + + + + + + 86841 + Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality + + + Preferential parent + + + + + + 86843 + Acute panmyelosis with myelofibrosis + + + Preferential parent + + + + + + 86845 + Acute myeloid leukaemia with myelodysplasia-related features + + + Preferential parent + + + + + + 86846 + Therapy related acute myeloid leukemia and myelodysplastic syndrome + + + Preferential parent + + + + + + 86849 + Acute basophilic leukemia + + + Preferential parent + + + + + + 86850 + Myeloid sarcoma + + + Preferential parent + + + + + + 86851 + Acute leukemia of ambiguous lineage + + + Preferential parent + + + + + + 86852 + B-cell prolymphocytic leukemia + + + Preferential parent + + + + + + 86854 + Splenic marginal zone lymphoma + + + Preferential parent + + + + + + 86855 + Plasmacytoma + + + Preferential parent + + + + + + 86861 + Non-amyloid monoclonal immunoglobulin deposition disease + + + Preferential parent + + + + + + 86864 + Heavy chain disease + + + Preferential parent + + + + + + 86867 + Nodal marginal zone B-cell lymphoma + + + Preferential parent + + + + + + 86869 + Lymphomatoid granulomatosis + + + Preferential parent + + + + + + 86870 + Blastic plasmacytoid dendritic cell neoplasm + + + Preferential parent + + + + + + 86871 + T-cell prolymphocytic leukemia + + + Preferential parent + + + + + + 86872 + T-cell large granular lymphocyte leukemia + + + Preferential parent + + + + + + 86873 + Aggressive NK-cell leukemia + + + Preferential parent + + + + + + 86875 + Adult T-cell leukemia/lymphoma + + + Preferential parent + + + + + + 86879 + Extranodal nasal NK/T cell lymphoma + + + Preferential parent + + + + + + 86880 + Enteropathy-associated T-cell lymphoma + + + Preferential parent + + + + + + 86882 + Hepatosplenic T-cell lymphoma + + + Preferential parent + + + + + + 86884 + Subcutaneous panniculitis-like T-cell lymphoma + + + Preferential parent + + + + + + 86885 + Primary cutaneous peripheral T-cell lymphoma not otherwise specified + + + Preferential parent + + + + + + 86886 + Angioimmunoblastic T-cell lymphoma + + + Preferential parent + + + + + + 86893 + Nodular lymphocyte predominant Hodgkin lymphoma + + + Preferential parent + + + + + + 86896 + Histiocytic sarcoma + + + Preferential parent + + + + + + 86897 + Langerhans cell sarcoma + + + Preferential parent + + + + + + 86900 + Interdigitating dendritic cell sarcoma + + + Preferential parent + + + + + + 86902 + Follicular dendritic cell sarcoma + + + Preferential parent + + + + + + 86903 + Dendritic cell sarcoma not otherwise specified + + + Preferential parent + + + + + + 86904 + Methotrexate-associated lymphoproliferative disorders + + + Preferential parent + + + + + + 88673 + Hepatocellular carcinoma + + + Preferential parent + + + + + + 91352 + Germinoma of the central nervous system + + + Preferential parent + + + + + + 93292 + Adenoma of pancreas + + + Preferential parent + + + + + + 93556 + Heavy chain deposition disease + + + Preferential parent + + + + + + 93557 + Light and heavy chain deposition disease + + + Preferential parent + + + + + + 93558 + Light chain deposition disease + + + Preferential parent + + + + + + 93619 + Rare renal tumor + + + Preferential parent + + + + + + 97285 + Thyroid lymphoma + + + Preferential parent + + + + + + 97286 + Carney-Stratakis syndrome + + + Preferential parent + + + + + + 97287 + Bronchial neuroendocrine tumor + + + Preferential parent + + + + + + 97289 + Thymic neuroendocrine tumor + + + Preferential parent + + + + + + 97290 + Familial papillary thyroid carcinoma with renal papillary neoplasia + + + Preferential parent + + + + + + 97293 + Rare benign ovarian tumor + + + Preferential parent + + + + + + 97338 + Melanoma of soft tissue + + + Preferential parent + + + + + + 98057 + Rare tumor + + + Preferential parent + + + + + + 98058 + Rare urinary tract tumor + + + Preferential parent + + + + + + 98059 + Rare digestive tumor + + + Preferential parent + + + + + + 98060 + Rare respiratory tumor + + + Preferential parent + + + + + + 98061 + Rare otorhinolaryngologic tumor + + + Preferential parent + + + + + + 98062 + Rare nervous system tumor + + + Preferential parent + + + + + + 98063 + Rare gynecological tumor + + + Preferential parent + + + + + + 98274 + Myeloproliferative neoplasm + + + Preferential parent + + + + + + 98275 + Myelodysplastic/myeloproliferative disease + + + Preferential parent + + + + + + 98277 + Acute myeloid leukemia with recurrent genetic anomaly + + + Preferential parent + + + + + + 98282 + Plasma cell tumor + + + Preferential parent + + + + + + 98287 + Histiocytic and dendritic cell tumor + + + Preferential parent + + + + + + 98288 + Macrophage or histiocytic tumor + + + Preferential parent + + + + + + 98289 + Dendritic cell tumor + + + Preferential parent + + + + + + 98291 + Lymphoproliferative disease associated with primary immune disease + + + Preferential parent + + + + + + 98292 + Mastocytosis + + + Preferential parent + + + + + + 98293 + Hodgkin lymphoma + + + Preferential parent + + + + + + 98823 + Chronic myelomonocytic leukemia + + + Preferential parent + + + + + + 98824 + Atypical chronic myeloid leukemia + + + Preferential parent + + + + + + 98825 + Unclassified myelodysplastic/myeloproliferative disease + + + Preferential parent + + + + + + 98826 + Myelodysplastic neoplasm with low blasts + + + Preferential parent + + + + + + 98827 + Unclassified myelodysplastic syndrome + + + Preferential parent + + + + + + 98829 + Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) + + + Preferential parent + + + + + + 98831 + Acute myeloid leukemia with 11q23 abnormalities + + + Preferential parent + + + + + + 98832 + Acute myeloid leukemia with minimal differentiation + + + Preferential parent + + + + + + 98833 + Acute myeloblastic leukemia without maturation + + + Preferential parent + + + + + + 98834 + Acute myeloblastic leukemia with maturation + + + Preferential parent + + + + + + 98835 + Acute undifferentiated leukemia + + + Preferential parent + + + + + + 98838 + Primary mediastinal large B-cell lymphoma + + + Preferential parent + + + + + + 98839 + Intravascular large B-cell lymphoma + + + Preferential parent + + + + + + 98841 + Anaplastic large cell lymphoma + + + Preferential parent + + + + + + 98842 + Lymphomatoid papulosis + + + Preferential parent + + + + + + 98843 + Classic Hodgkin lymphoma, nodular sclerosis type + + + Preferential parent + + + + + + 98844 + Classic Hodgkin lymphoma, mixed cellularity type + + + Preferential parent + + + + + + 98845 + Classic Hodgkin lymphoma, lymphocyte-rich type + + + Preferential parent + + + + + + 98846 + Classic Hodgkin lymphoma, lymphocyte-depleted type + + + Preferential parent + + + + + + 98848 + Indolent systemic mastocytosis + + + Preferential parent + + + + + + 98849 + Systemic mastocytosis with associated hematologic neoplasm + + + Preferential parent + + + + + + 98850 + Aggressive systemic mastocytosis + + + Preferential parent + + + + + + 98851 + Mast cell leukemia + + + Preferential parent + + + + + + 99361 + Isolated familial medullary thyroid carcinoma + + + Preferential parent + + + + + + 99756 + Alveolar rhabdomyosarcoma + + + Preferential parent + + + + + + 99757 + Embryonal rhabdomyosarcoma + + + Preferential parent + + + + + + 99860 + Precursor B-cell acute lymphoblastic leukemia + + + Preferential parent + + + + + + 99861 + Precursor T-cell acute lymphoblastic leukemia + + + Preferential parent + + + + + + 99865 + Spermatocytic seminoma + + + Preferential parent + + + + + + 99867 + Thymoma + + + Preferential parent + + + + + + 99868 + Thymic carcinoma + + + Preferential parent + + + + + + 99869 + Thymic neuroendocrine carcinoma + + + Preferential parent + + + + + + 99887 + Acute megakaryoblastic leukemia in children with Down syndrome + + + Preferential parent + + + + + + 99912 + Ovarian dysgerminoma + + + Preferential parent + + + + + + 99913 + Extragonadal non-dysgerminomatous germ cell tumor + + + Preferential parent + + + + + + 99914 + Gynandroblastoma + + + Preferential parent + + + + + + 99915 + Malignant granulosa cell tumor of the ovary + + + Preferential parent + + + + + + 99916 + Malignant Sertoli-Leydig cell tumor of the ovary + + + Preferential parent + + + + + + 99917 + Theca steroid-producing cell malignant tumor of ovary, not further specified + + + Preferential parent + + + + + + 99925 + Invasive mole + + + Preferential parent + + + + + + 99926 + Gestational choriocarcinoma + + + Preferential parent + + + + + + 99927 + Hydatidiform mole + + + Preferential parent + + + + + + 99928 + Placental site trophoblastic tumor + + + Preferential parent + + + + + + 99933 + Pleuropulmonary blastoma type 1 + + + Preferential parent + + + + + + 99934 + Pleuropulmonary blastoma type 2 + + + Preferential parent + + + + + + 99935 + Pleuropulmonary blastoma type 3 + + + Preferential parent + + + + + + 99966 + Atypical teratoid rhabdoid tumor + + + Preferential parent + + + + + + 99967 + Myxoid/round cell liposarcoma + + + Preferential parent + + + + + + 99969 + Pleomorphic liposarcoma + + + Preferential parent + + + + + + 99970 + Dedifferentiated liposarcoma + + + Preferential parent + + + + + + 99971 + Well-differentiated liposarcoma + + + Preferential parent + + + + + + 99976 + Adenocarcinoma of the oesophagus and oesophagogastric junction + + + Preferential parent + + + + + + 99977 + Squamous cell carcinoma of the esophagus + + + Preferential parent + + + + + + 99978 + Perihilar cholangiocarcinoma + + + Preferential parent + + + + + + 100019 + Myelodysplastic neoplasm with increased blasts type 1 + + + Preferential parent + + + + + + 100020 + Myelodysplastic neoplasm with increased blasts type 2 + + + Preferential parent + + + + + + 100021 + Primary plasmacytoma of the bone + + + Preferential parent + + + + + + 100022 + Extramedullary soft tissue plasmacytoma + + + Preferential parent + + + + + + 100024 + Mu-heavy chain disease + + + Preferential parent + + + + + + 100025 + Alpha-heavy chain disease + + + Preferential parent + + + + + + 100026 + Gamma-heavy chain disease + + + Preferential parent + + + + + + 100075 + Neuroendocrine tumor of stomach + + + Preferential parent + + + + + + 100076 + Duodenal neuroendocrine tumor + + + Preferential parent + + + + + + 100077 + Jejunal neuroendocrine tumor + + + Preferential parent + + + + + + 100078 + Ileal neuroendocrine tumor + + + Preferential parent + + + + + + 100079 + Neuroendocrine neoplasm of appendix + + + Preferential parent + + + + + + 100080 + Neuroendocrine tumor of the colon + + + Preferential parent + + + + + + 100081 + Neuroendocrine tumor of the rectum + + + Preferential parent + + + + + + 100082 + Neuroendocrine tumor of anal canal + + + Preferential parent + + + + + + 100083 + Laryngeal neuroendocrine tumor + + + Preferential parent + + + + + + 100084 + Middle ear neuroendocrine tumor + + + Preferential parent + + + + + + 100085 + Primary hepatic neuroendocrine carcinoma + + + Preferential parent + + + + + + 100086 + Gallbladder neuroendocrine tumor + + + Preferential parent + + + + + + 100087 + Rare thyroid tumor + + + Preferential parent + + + + + + 100088 + Rare thyroid carcinoma + + + Preferential parent + + + + + + 100090 + Rare parathyroid tumor + + + Preferential parent + + + + + + 100091 + Adrenal/paraganglial tumor + + + Preferential parent + + + + + + 100092 + Gastroenteropancreatic neuroendocrine neoplasm + + + Preferential parent + + + + + + 100093 + Carcinoid syndrome + + + Preferential parent + + + + + + 100094 + Multiple polyglandular tumor + + + Preferential parent + + + + + + 100100 + Thymic tumor + + + Preferential parent + + + + + + 100101 + Neuroendocrine tumor with other location + + + Preferential parent + + + + + + 101943 + Rare hepatic and biliary tract tumor + + + Preferential parent + + + + + + 101945 + Rare bronchopulmonary and pleural cavity tumors + + + Preferential parent + + + + + + 101950 + Rare eye tumor + + + Preferential parent + + + + + + 102024 + Human herpesvirus 8-related disorder + + + Preferential parent + + + + + + 102379 + Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent + + + Preferential parent + + + + + + 102381 + Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor + + + Preferential parent + + + + + + 102724 + Acute myeloid leukemia with t(8;21)(q22;q22) translocation + + + Preferential parent + + + + + + 104011 + Rare tumor of intestine + + + Preferential parent + + + + + + 104075 + Adenocarcinoma of the small intestine + + + Preferential parent + + + + + + 104076 + Leiomyosarcoma of small intestine + + + Preferential parent + + + + + + 137583 + Vulvar intraepithelial neoplasia + + + Preferential parent + + + + + + 139411 + Carney triad + + + Preferential parent + + + + + + 140162 + Inherited cancer-predisposing syndrome + + + Preferential parent + + + + + + 141115 + Nasal ganglioglioma + + + Preferential parent + + + + + + 157826 + Congenital epulis + + + Preferential parent + + + + + + 158775 + Smoldering systemic mastocytosis + + + Preferential parent + + + + + + 158778 + Isolated bone marrow mastocytosis + + + Preferential parent + + + + + + 163699 + Alveolar soft tissue sarcoma + + + Preferential parent + + + + + + 164726 + Acute myeloid leukemia and myelodysplastic syndromes related to radiation + + + Preferential parent + + + + + + 167714 + Unclassified acute myeloid leukemia + + + Preferential parent + + + + + + 168194 + Rare cardiac tumor + + + Preferential parent + + + + + + 168803 + Primary peritoneal tumor + + + Preferential parent + + + + + + 168807 + Primary malignant peritoneal tumor + + + Preferential parent + + + + + + 168811 + Malignant peritoneal mesothelioma + + + Preferential parent + + + + + + 168816 + Peritoneal inclusion cyst + + + Preferential parent + + + + + + 168829 + Primary peritoneal carcinoma + + + Preferential parent + + + + + + 168940 + Chronic eosinophilic leukemia + + + Preferential parent + + + + + + 168943 + Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 + + + Preferential parent + + + + + + 168947 + Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement + + + Preferential parent + + + + + + 168950 + Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement + + + Preferential parent + + + + + + 168953 + Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement + + + Preferential parent + + + + + + 168960 + Refractory anemia with excess blasts in transformation + + + Preferential parent + + + + + + 168966 + Composite lymphoma + + + Preferential parent + + + + + + 168999 + Malignant melanoma of the mucosa + + + Preferential parent + + + + + + 171895 + Myeloid hemopathy + + + Preferential parent + + + + + + 171898 + Lymphoid hemopathy + + + Preferential parent + + + + + + 171901 + Primary cutaneous T-cell lymphoma + + + Preferential parent + + + + + + 171915 + B-cell non-Hodgkin lymphoma + + + Preferential parent + + + + + + 171918 + T-cell non-Hodgkin lymphoma + + + Preferential parent + + + + + + 178315 + Undifferentiated embryonal sarcoma of the liver + + + Preferential parent + + + + + + 178342 + Inflammatory myofibroblastic tumor + + + Preferential parent + + + + + + 178512 + Folliculotropic mycosis fungoides + + + Preferential parent + + + + + + 178517 + Localized pagetoid reticulosis + + + Preferential parent + + + + + + 178522 + Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma + + + Preferential parent + + + + + + 178528 + Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma + + + Preferential parent + + + + + + 178533 + Primary cutaneous gamma/delta-positive T-cell lymphoma + + + Preferential parent + + + + + + 178536 + Primary cutaneous marginal zone B-cell lymphoma + + + Preferential parent + + + + + + 178540 + Primary cutaneous follicle center lymphoma + + + Preferential parent + + + + + + 178544 + Primary cutaneous diffuse large B-cell lymphoma, leg type + + + Preferential parent + + + + + + 178548 + Indolent primary cutaneous T-cell lymphoma + + + Preferential parent + + + + + + 178551 + Aggressive primary cutaneous T-cell lymphoma + + + Preferential parent + + + + + + 178554 + Aggressive primary cutaneous B-cell lymphoma + + + Preferential parent + + + + + + 178557 + Indolent primary cutaneous B-cell lymphoma + + + Preferential parent + + + + + + 178563 + Primary cutaneous B-cell lymphoma + + + Preferential parent + + + + + + 178566 + Mycosis fungoides and variants + + + Preferential parent + + + + + + 180220 + Rare uterine adnexal tumor + + + Preferential parent + + + + + + 180226 + Embryonal carcinoma + + + Preferential parent + + + + + + 180229 + Polyembryoma + + + Preferential parent + + + + + + 180234 + Mixed germ cell tumor + + + Preferential parent + + + + + + 180237 + Benign tumor of fallopian tubes + + + Preferential parent + + + + + + 180242 + Malignant tumor of fallopian tubes + + + Preferential parent + + + + + + 180247 + Vaginal carcinoma + + + Preferential parent + + + + + + 180250 + Rare breast tumor + + + Preferential parent + + + + + + 180253 + Rare benign breast tumor + + + Preferential parent + + + + + + 180257 + Rare malignant breast tumor + + + Preferential parent + + + + + + 180261 + Phyllodes tumor of the breast + + + Preferential parent + + + + + + 180267 + Giant adenofibroma of the breast + + + Preferential parent + + + + + + 180275 + Paget disease of the nipple + + + Preferential parent + + + + + + 180312 + Rare vulvovaginal tumor + + + Preferential parent + + + + + + 180821 + Rare gastroesophageal tumor + + + Preferential parent + + + + + + 180824 + Rare tumor of pancreas + + + Preferential parent + + + + + + 182067 + Glial tumor + + + Preferential parent + + + + + + 182114 + Rare urogenital tumor + + + Preferential parent + + + + + + 182127 + Extragonadal germinoma + + + Preferential parent + + + + + + 182130 + Tumor of endocrine glands + + + Preferential parent + + + + + + 183487 + Genetic skin tumor or hamartoma + + + Preferential parent + + + + + + 183595 + Genetic renal tumor + + + Preferential parent + + + + + + 183734 + Genetic gynecological tumor + + + Preferential parent + + + + + + 199260 + Calcifying aponeurotic fibroma + + + Preferential parent + + + + + + 199267 + Infantile digital fibromatosis + + + Preferential parent + + + + + + 206470 + Cystadenoma of childhood + + + Preferential parent + + + + + + 206484 + Gonadoblastoma + + + Preferential parent + + + + + + 206489 + Malignant germ cell tumor of the vagina + + + Preferential parent + + + + + + 206492 + Vulvovaginal rhabdomyosarcoma + + + Preferential parent + + + + + + 206538 + Malignant non-dysgerminomatous germ cell tumor of ovary + + + Preferential parent + + + + + + 206982 + Muscular tumor + + + Preferential parent + + + + + + 207046 + Malignant lymphoma with peripheral neuropathy + + + Preferential parent + + + + + + 209019 + Solid tumor associated with an acquired peripheral neuropathy + + + Preferential parent + + + + + + 209916 + Extraskeletal myxoid chondrosarcoma + + + Preferential parent + + + + + + 210159 + Adult hepatocellular carcinoma + + + Preferential parent + + + + + + 213500 + Rare ovarian cancer + + + Preferential parent + + + + + + 213504 + Adenocarcinoma of ovary + + + Preferential parent + + + + + + 213512 + Malignant mixed Müllerian tumor of the ovary + + + Preferential parent + + + + + + 213528 + Rare adenocarcinoma of the breast + + + Preferential parent + + + + + + 213531 + Metaplastic carcinoma of the breast + + + Preferential parent + + + + + + 213557 + Salivary gland type cancer of the breast + + + Preferential parent + + + + + + 213564 + Rare uterine cancer + + + Preferential parent + + + + + + 213569 + Rare cancer of corpus uteri + + + Preferential parent + + + + + + 213589 + Malignant mixed epithelial and mesenchymal tumor of corpus uteri + + + Preferential parent + + + + + + 213600 + Adenosarcoma of the corpus uteri + + + Preferential parent + + + + + + 213605 + Carcinofibroma of the corpus uteri + + + Preferential parent + + + + + + 213610 + Carcinosarcoma of the corpus uteri + + + Preferential parent + + + + + + 213615 + Rhabdomyosarcoma of the corpus uteri + + + Preferential parent + + + + + + 213620 + Sarcoma of the corpus uteri + + + Preferential parent + + + + + + 213625 + Leiomyosarcoma of the corpus uteri + + + Preferential parent + + + + + + 213630 + Primitive neuroectodermal tumor of the corpus uteri + + + Preferential parent + + + + + + 213711 + Endometrial stromal sarcoma + + + Preferential parent + + + + + + 213716 + Squamous cell carcinoma of the corpus uteri + + + Preferential parent + + + + + + 213721 + Undifferentiated carcinoma of the corpus uteri + + + Preferential parent + + + + + + 213726 + Serous carcinoma of the corpus uteri + + + Preferential parent + + + + + + 213731 + High-grade neuroendocrine carcinoma of the corpus uteri + + + Preferential parent + + + + + + 213736 + Low-grade neuroendocrine tumor of the corpus uteri + + + Preferential parent + + + + + + 213746 + Transitional cell carcinoma of the corpus uteri + + + Preferential parent + + + + + + 213751 + Malignant germ cell tumor of the corpus uteri + + + Preferential parent + + + + + + 213761 + Rare cancer of cervix uteri + + + Preferential parent + + + + + + 213767 + Squamous cell carcinoma of the cervix uteri + + + Preferential parent + + + + + + 213772 + Adenocarcinoma of the cervix uteri + + + Preferential parent + + + + + + 213777 + High-grade neuroendocrine carcinoma of the cervix uteri + + + Preferential parent + + + + + + 213782 + Malignant mixed epithelial and mesenchymal tumor of cervix uteri + + + Preferential parent + + + + + + 213787 + Carcinosarcoma of the cervix uteri + + + Preferential parent + + + + + + 213792 + Adenosarcoma of the cervix uteri + + + Preferential parent + + + + + + 213797 + Sarcoma of cervix uteri + + + Preferential parent + + + + + + 213802 + Rhabdomyosarcoma of the cervix uteri + + + Preferential parent + + + + + + 213807 + Leiomyosarcoma of the cervix uteri + + + Preferential parent + + + + + + 213812 + Primitive neuroectodermal tumor of the cervix uteri + + + Preferential parent + + + + + + 213823 + Adenoid cystic carcinoma of the cervix uteri + + + Preferential parent + + + + + + 213828 + Adenoid basal carcinoma of the cervix uteri + + + Preferential parent + + + + + + 213833 + Glassy cell carcinoma of the cervix uteri + + + Preferential parent + + + + + + 213837 + Malignant germ cell tumor of the cervix uteri + + + Preferential parent + + + + + + 217071 + Renal cell carcinoma + + + Preferential parent + + + + + + 217074 + Rare carcinoma of pancreas + + + Preferential parent + + + + + + 223727 + Bone sarcoma + + + Preferential parent + + + + + + 223735 + Lymphoma + + + Preferential parent + + + + + + 227535 + Hereditary breast cancer + + + Preferential parent + + + + + + 231108 + Rhabdoid tumor predisposition syndrome + + + Preferential parent + + + + + + 247203 + Collecting duct carcinoma + + + Preferential parent + + + + + + 247698 + Multiple endocrine neoplasia type 2A + + + Preferential parent + + + + + + 247709 + Multiple endocrine neoplasia type 2B + + + Preferential parent + + + + + + 247762 + Lipoblastoma + + + Preferential parent + + + + + + 251558 + Rare tumor of neuroepithelial tissue + + + Preferential parent + + + + + + 251561 + High-grade astrocytoma + + + Preferential parent + + + + + + 251576 + Gliosarcoma + + + Preferential parent + + + + + + 251579 + Giant cell glioblastoma + + + Preferential parent + + + + + + 251582 + Gliomatosis cerebri + + + Preferential parent + + + + + + 251589 + Anaplastic astrocytoma + + + Preferential parent + + + + + + 251592 + Low-grade astrocytoma + + + Preferential parent + + + + + + 251595 + Diffuse astrocytoma + + + Preferential parent + + + + + + 251598 + Protoplasmic astrocytoma + + + Preferential parent + + + + + + 251601 + Fibrillary astrocytoma + + + Preferential parent + + + + + + 251604 + Gemistocytic astrocytoma + + + Preferential parent + + + + + + 251607 + Pleomorphic xanthoastrocytoma + + + Preferential parent + + + + + + 251612 + Pilocytic astrocytoma + + + Preferential parent + + + + + + 251615 + Pilomyxoid astrocytoma + + + Preferential parent + + + + + + 251618 + Subependymal giant cell astrocytoma + + + Preferential parent + + + + + + 251623 + Pituicytoma + + + Preferential parent + + + + + + 251627 + Oligodendroglioma + + + Preferential parent + + + + + + 251630 + Anaplastic oligodendroglioma + + + Preferential parent + + + + + + 251636 + Ependymoma + + + Preferential parent + + + + + + 251639 + Subependymoma + + + Preferential parent + + + + + + 251643 + Myxopapillary ependymoma + + + Preferential parent + + + + + + 251646 + Anaplastic ependymoma + + + Preferential parent + + + + + + 251651 + Oligoastrocytic tumor + + + Preferential parent + + + + + + 251656 + Oligoastrocytoma + + + Preferential parent + + + + + + 251663 + Anaplastic oligoastrocytoma + + + Preferential parent + + + + + + 251668 + Glial tumor of neuroepithelial tissue with unknown origin + + + Preferential parent + + + + + + 251671 + Angiocentric glioma + + + Preferential parent + + + + + + 251674 + Chordoid glioma + + + Preferential parent + + + + + + 251679 + Astroblastoma + + + Preferential parent + + + + + + 251852 + Embryonal tumor of neuroepithelial tissue + + + Preferential parent + + + + + + 251855 + Anaplastic/large cell medulloblastoma + + + Preferential parent + + + + + + 251858 + Medulloblastoma with extensive nodularity + + + Preferential parent + + + + + + 251863 + Desmoplastic/nodular medulloblastoma + + + Preferential parent + + + + + + 251867 + Classic medulloblastoma + + + Preferential parent + + + + + + 251870 + Central nervous system embryonal tumor + + + Preferential parent + + + + + + 251877 + Ganglioneuroblastoma + + + Preferential parent + + + + + + 251896 + Choroid plexus tumor + + + Preferential parent + + + + + + 251899 + Choroid plexus carcinoma + + + Preferential parent + + + + + + 251902 + Atypical papilloma of choroid plexus + + + Preferential parent + + + + + + 251905 + Pineal tumor of neuroepithelial tissue + + + Preferential parent + + + + + + 251909 + Pineoblastoma + + + Preferential parent + + + + + + 251912 + Pineocytoma + + + Preferential parent + + + + + + 251915 + Papillary tumor of the pineal region + + + Preferential parent + + + + + + 251919 + Pineal parenchymal tumor of intermediate differentiation + + + Preferential parent + + + + + + 251924 + Neuronal tumor + + + Preferential parent + + + + + + 251927 + Extraventricular neurocytoma + + + Preferential parent + + + + + + 251931 + Cerebellar liponeurocytoma + + + Preferential parent + + + + + + 251934 + Mixed neuronal-glial tumor + + + Preferential parent + + + + + + 251937 + Gangliocytoma + + + Preferential parent + + + + + + 251940 + Desmoplastic infantile astrocytoma/ganglioglioma + + + Preferential parent + + + + + + 251946 + Dysembryoplastic neuroepithelial tumor + + + Preferential parent + + + + + + 251949 + Ganglioglioma + + + Preferential parent + + + + + + 251957 + Anaplastic ganglioglioma + + + Preferential parent + + + + + + 251962 + Papillary glioneuronal tumor + + + Preferential parent + + + + + + 251975 + Rosette-forming glioneuronal tumor + + + Preferential parent + + + + + + 251992 + Ganglioneuroma + + + Preferential parent + + + + + + 251995 + Primary germ cell tumor of central nervous system + + + Preferential parent + + + + + + 252006 + Yolk sac tumor of central nervous system + + + Preferential parent + + + + + + 252015 + Choriocarcinoma of the central nervous system + + + Preferential parent + + + + + + 252018 + Teratoma of the central nervous system + + + Preferential parent + + + + + + 252021 + Mixed germ cell tumor of central nervous system + + + Preferential parent + + + + + + 252025 + Tumor of meninges + + + Preferential parent + + + + + + 252028 + Primary melanocytic tumor of central nervous system + + + Preferential parent + + + + + + 252031 + Diffuse leptomeningeal melanocytosis + + + Preferential parent + + + + + + 252046 + Meningeal melanocytoma + + + Preferential parent + + + + + + 252050 + Primary melanoma of the central nervous system + + + Preferential parent + + + + + + 252054 + Hemangioblastoma + + + Preferential parent + + + + + + 252057 + Tumor of cranial and spinal nerves + + + Preferential parent + + + + + + 252128 + Malignant peripheral nerve sheath tumor with perineurial differentiation + + + Preferential parent + + + + + + 252131 + Benign peripheral nerve sheath tumor + + + Preferential parent + + + + + + 252164 + Benign schwannoma + + + Preferential parent + + + + + + 252175 + Vestibular schwannoma + + + Preferential parent + + + + + + 252183 + Neurofibroma + + + Preferential parent + + + + + + 252212 + Malignant triton tumor + + + Preferential parent + + + + + + 254685 + Gestational trophoblastic disease + + + Preferential parent + + + + + + 254688 + Complete hydatidiform mole + + + Preferential parent + + + + + + 254693 + Partial hydatidiform mole + + + Preferential parent + + + + + + 254698 + Epithelioid trophoblastic tumor + + + Preferential parent + + + + + + 263310 + Thymoma type A + + + Preferential parent + + + + + + 263317 + Thymoma type B + + + Preferential parent + + + + + + 263324 + Thymoma type AB + + + Preferential parent + + + + + + 263331 + Well-differentiated thymic neuroendocrine carcinoma + + + Preferential parent + + + + + + 263335 + Moderately-differentiated thymic neuroendocrine carcinoma + + + Preferential parent + + + + + + 263339 + Poorly differentiated thymic neuroendocrine carcinoma + + + Preferential parent + + + + + + 263413 + Angiosarcoma + + + Preferential parent + + + + + + 268139 + Intraocular medulloepithelioma + + + Preferential parent + + + + + + 271844 + Genetic urogenital tumor + + + Preferential parent + + + + + + 271847 + Genetic neuroendocrine tumor + + + Preferential parent + + + + + + 276142 + Rare tumor of salivary glands + + + Preferential parent + + + + + + 276145 + Malignant epithelial tumor of salivary glands + + + Preferential parent + + + + + + 276152 + Multiple endocrine neoplasia type 4 + + + Preferential parent + + + + + + 276161 + Multiple endocrine neoplasia + + + Preferential parent + + + + + + 279897 + Primary oculocerebral lymphoma + + + Preferential parent + + + + + + 279911 + Primary organ-specific lymphoma + + + Preferential parent + + + + + + 284343 + DICER1 tumor-predisposition syndrome + + + Preferential parent + + + + + + 284362 + Fetal lung interstitial tumor + + + Preferential parent + + + + + + 284395 + Well-differentiated fetal adenocarcinoma of the lung + + + Preferential parent + + + + + + 284400 + Small cell carcinoma of the bladder + + + Preferential parent + + + + + + 289356 + Primary non-gestational choriocarcinoma of ovary + + + Preferential parent + + + + + + 289362 + Non-central nervous system-localized embryonal carcinoma + + + Preferential parent + + + + + + 289539 + BAP1-related tumor predisposition syndrome + + + Preferential parent + + + + + + 289635 + Rare virus associated tumor + + + Preferential parent + + + + + + 289638 + Epstein-Barr Virus-related tumor + + + Preferential parent + + + + + + 289644 + Epstein-Barr virus-associated malignant lymphoproliferative disorder + + + Preferential parent + + + + + + 289651 + Epstein-Barr Virus-associated carcinoma + + + Preferential parent + + + + + + 289656 + Epstein-Barr Virus-associated mesenchymal tumor + + + Preferential parent + + + + + + 289661 + Epstein-Barr virus-positive diffuse large B-cell lymphoma + + + Preferential parent + + + + + + 289666 + Plasmablastic lymphoma + + + Preferential parent + + + + + + 289682 + Lymphoepithelial-like carcinoma + + + Preferential parent + + + + + + 289685 + Myopericytoma + + + Preferential parent + + + + + + 290849 + Rare head and neck tumor + + + Preferential parent + + + + + + 293199 + Pleomorphic rhabdomyosarcoma + + + Preferential parent + + + + + + 293202 + Epithelioid sarcoma + + + Preferential parent + + + + + + 293822 + MITF-related melanoma and renal cell carcinoma predisposition syndrome + + + Preferential parent + + + + + + 300385 + Pituitary carcinoma + + + Preferential parent + + + + + + 300501 + Painful orbital and systemic neurofibromas-marfanoid habitus syndrome + + + Preferential parent + + + + + + 300504 + Onychocytic matricoma + + + Preferential parent + + + + + + 300512 + Onychomatricoma + + + Preferential parent + + + + + + 300515 + Rare nail tumor + + + Preferential parent + + + + + + 300557 + Carcinoma of the ampulla of Vater + + + Preferential parent + + + + + + 300842 + Indolent B-cell non-Hodgkin lymphoma + + + Preferential parent + + + + + + 300846 + Aggressive B-cell non-Hodgkin lymphoma + + + Preferential parent + + + + + + 300849 + Diffuse large B-cell lymphoma of the central nervous system + + + Preferential parent + + + + + + 300857 + T-cell/histiocyte rich large B cell lymphoma + + + Preferential parent + + + + + + 300865 + Primary cutaneous anaplastic large cell lymphoma + + + Preferential parent + + + + + + 300869 + Splenic diffuse red pulp small B-cell lymphoma + + + Preferential parent + + + + + + 300878 + Hairy cell leukemia variant + + + Preferential parent + + + + + + 300888 + Diffuse large B-cell lymphoma with chronic inflammation + + + Preferential parent + + + + + + 300895 + ALK-positive anaplastic large cell lymphoma + + + Preferential parent + + + + + + 300903 + ALK-negative anaplastic large cell lymphoma + + + Preferential parent + + + + + + 300912 + Marginal zone lymphoma + + + Preferential parent + + + + + + 304055 + Pituitary tumor + + + Preferential parent + + + + + + 306498 + PTEN hamartoma tumor syndrome + + + Preferential parent + + + + + + 306633 + Rare tumor of gallbladder and extrahepatic biliary tract + + + Preferential parent + + + + + + 306636 + Rare tumor of liver and intrahepatic biliary tract + + + Preferential parent + + + + + + 313920 + Epstein-Barr virus-associated gastric carcinoma + + + Preferential parent + + + + + + 314022 + Gastric adenocarcinoma and proximal polyposis of the stomach + + + Preferential parent + + + + + + 314419 + Ameloblastoma + + + Preferential parent + + + + + + 314422 + Ameloblastic carcinoma + + + Preferential parent + + + + + + 314451 + Meigs syndrome + + + Preferential parent + + + + + + 314459 + Pseudo-Meigs syndrome + + + Preferential parent + + + + + + 314466 + Atypical Meigs syndrome + + + Preferential parent + + + + + + 314473 + Ovarian fibroma + + + Preferential parent + + + + + + 314478 + Ovarian fibrothecoma + + + Preferential parent + + + + + + 314613 + Growing teratoma syndrome + + + Preferential parent + + + + + + 314684 + Primary bone lymphoma + + + Preferential parent + + + + + + 319276 + Clear cell renal carcinoma + + + Preferential parent + + + + + + 319287 + Multilocular cystic renal neoplasm of low malignant potential + + + Preferential parent + + + + + + 319298 + Papillary renal cell carcinoma + + + Preferential parent + + + + + + 319303 + Chromophobe renal cell carcinoma + + + Preferential parent + + + + + + 319308 + MiT family translocation renal cell carcinoma + + + Preferential parent + + + + + + 319319 + Renal medullary carcinoma + + + Preferential parent + + + + + + 319322 + Mucinous tubular and spindle cell renal carcinoma + + + Preferential parent + + + + + + 319325 + Tubulocystic renal cell carcinoma + + + Preferential parent + + + + + + 319462 + Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations + + + Preferential parent + + + + + + 319465 + Inherited acute myeloid leukemia + + + Preferential parent + + + + + + 319480 + Acute myeloid leukemia with CEBPA somatic mutations + + + Preferential parent + + + + + + 319487 + Familial papillary or follicular thyroid carcinoma + + + Preferential parent + + + + + + 319494 + Familial nonmedullary thyroid carcinoma + + + Preferential parent + + + + + + 322126 + Genetic tumor of hematopoietic and lymphoid tissues + + + Preferential parent + + + + + + 329469 + Acute megakaryoblastic leukemia in children without Down syndrome + + + Preferential parent + + + + + + 329977 + Classic neuroendocrine tumor of appendix + + + Preferential parent + + + + + + 329984 + Goblet cell carcinoma + + + Preferential parent + + + + + + 357027 + Hereditary retinoblastoma + + + Preferential parent + + + + + + 357034 + Non-hereditary retinoblastoma + + + Preferential parent + + + + + + 363472 + Tumor of testis and paratestis + + + Preferential parent + + + + + + 363478 + Paratesticular adenocarcinoma + + + Preferential parent + + + + + + 363483 + Testicular teratoma + + + Preferential parent + + + + + + 363489 + Sex cord-stromal tumor of testis + + + Preferential parent + + + + + + 363494 + Non-seminomatous germ cell tumor of testis + + + Preferential parent + + + + + + 363504 + Germ cell tumor of testis + + + Preferential parent + + + + + + 363579 + Extragonadal germ cell tumor + + + Preferential parent + + + + + + 363582 + Gonadal germ cell tumor + + + Preferential parent + + + + + + 363976 + Giant cell tumor of bone + + + Preferential parent + + + + + + 364033 + Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood + + + Preferential parent + + + + + + 364039 + Hydroa vacciniforme-like lymphoma + + + Preferential parent + + + + + + 364043 + ALK-positive large B-cell lymphoma + + + Preferential parent + + + + + + 370026 + Acute myeloid leukemia with t(8;16)(p11;p13) translocation + + + Preferential parent + + + + + + 370334 + Extraskeletal Ewing sarcoma + + + Preferential parent + + + + + + 370348 + Peripheral primitive neuroectodermal tumor + + + Preferential parent + + + + + + 370396 + Small cell carcinoma of the ovary + + + Preferential parent + + + + + + 391651 + Glomus tumor + + + Preferential parent + + + + + + 391723 + Mucinous adenocarcinoma of the appendix + + + Preferential parent + + + + + + 398043 + Malignant tumor of penis + + + Preferential parent + + + + + + 398053 + Adenocarcinoma of the penis + + + Preferential parent + + + + + + 398058 + Squamous cell carcinoma of the penis + + + Preferential parent + + + + + + 398934 + Malignant epithelial tumor of ovary + + + Preferential parent + + + + + + 398940 + Malignant non-epithelial tumor of ovary + + + Preferential parent + + + + + + 398961 + Mucinous adenocarcinoma of ovary + + + Preferential parent + + + + + + 398971 + Clear cell adenocarcinoma of the ovary + + + Preferential parent + + + + + + 398987 + Malignant teratoma of ovary + + + Preferential parent + + + + + + 401920 + Fibrolamellar hepatocellular carcinoma + + + Preferential parent + + + + + + 402014 + Acute myeloid leukemia with t(6;9)(p23;q34) + + + Preferential parent + + + + + + 402017 + Acute myeloid leukemia with t(9;11)(p22;q23) + + + Preferential parent + + + + + + 402020 + Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) + + + Preferential parent + + + + + + 402023 + Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) + + + Preferential parent + + + + + + 402026 + Acute myeloid leukemia with NPM1 somatic mutations + + + Preferential parent + + + + + + 404511 + Clear cell papillary renal cell carcinoma + + + Preferential parent + + + + + + 404514 + Acquired cystic disease-associated renal cell carcinoma + + + Preferential parent + + + + + + 404560 + Familial atypical multiple mole melanoma syndrome + + + Preferential parent + + + + + + 418945 + Carcinoma of esophagus, salivary gland type + + + Preferential parent + + + + + + 418951 + Undifferentiated carcinoma of esophagus + + + Preferential parent + + + + + + 418959 + Squamous cell carcinoma of the stomach + + + Preferential parent + + + + + + 422526 + Hereditary clear cell renal cell carcinoma + + + Preferential parent + + + + + + 423771 + Rare carcinoma of stomach + + + Preferential parent + + + + + + 423776 + Hereditary gastric cancer + + + Preferential parent + + + + + + 423786 + Undifferentiated carcinoma of stomach + + + Preferential parent + + + + + + 423793 + Rare tumor of small intestine + + + Preferential parent + + + + + + 423798 + Mesenchymal tumor of small intestine + + + Preferential parent + + + + + + 423957 + Rare carcinoma of small intestine + + + Preferential parent + + + + + + 423968 + Squamous cell carcinoma of the small intestine + + + Preferential parent + + + + + + 423975 + Neuroendocrine tumor of the small intestine + + + Preferential parent + + + + + + 423982 + Epithelial tumor of the appendix + + + Preferential parent + + + + + + 423991 + Rare epithelial tumor of colon + + + Preferential parent + + + + + + 423994 + Squamous cell carcinoma of the colon + + + Preferential parent + + + + + + 423998 + Rare epithelial tumor of rectum + + + Preferential parent + + + + + + 424002 + Squamous cell carcinoma of the rectum + + + Preferential parent + + + + + + 424010 + Epithelial tumor of anal canal + + + Preferential parent + + + + + + 424013 + Carcinoma of the anal canal + + + Preferential parent + + + + + + 424016 + Adenocarcinoma of the anal canal + + + Preferential parent + + + + + + 424019 + Squamous cell carcinoma of the anal canal + + + Preferential parent + + + + + + 424033 + Rare epithelial tumor of pancreas + + + Preferential parent + + + + + + 424039 + Squamous cell carcinoma of pancreas + + + Preferential parent + + + + + + 424046 + Acinar cell carcinoma of pancreas + + + Preferential parent + + + + + + 424053 + Mucinous cystadenocarcinoma of the pancreas + + + Preferential parent + + + + + + 424058 + Intraductal papillary mucinous carcinoma of pancreas + + + Preferential parent + + + + + + 424065 + Pancreatic solid pseudopapillary neoplasm + + + Preferential parent + + + + + + 424073 + Serous cystadenocarcinoma of pancreas + + + Preferential parent + + + + + + 424080 + Undifferentiated carcinoma with osteoclast-like giant cells of pancreas + + + Preferential parent + + + + + + 424933 + Rare malignant epithelial tumor of liver and intrahepatic biliary tract + + + Preferential parent + + + + + + 424936 + Carcinoma of liver and intrahepatic biliary tract + + + Preferential parent + + + + + + 424943 + Adenocarcinoma of the liver and intrahepatic biliary tract + + + Preferential parent + + + + + + 424970 + Undifferentiated carcinoma of liver and intrahepatic biliary tract + + + Preferential parent + + + + + + 424975 + Squamous cell carcinoma of liver and intrahepatic biliary tract + + + Preferential parent + + + + + + 424982 + Biliary cystadenocarcinoma + + + Preferential parent + + + + + + 424991 + Adenocarcinoma of the gallbladder and extrahepatic biliary tract + + + Preferential parent + + + + + + 424996 + Squamous cell carcinoma of gallbladder and extrahepatic biliary tract + + + Preferential parent + + + + + + 425368 + Rare epithelial tumor of small intestine + + + Preferential parent + + + + + + 440437 + Familial colorectal cancer Type X + + + Preferential parent + + + + + + 443159 + Lymphoplasmacytic lymphoma without IgM production + + + Preferential parent + + + + + + 443167 + NUT midline carcinoma + + + Preferential parent + + + + + + 443291 + HIV-associated cancer + + + Preferential parent + + + + + + 443909 + Hereditary nonpolyposis colon cancer + + + Preferential parent + + + + + + 454714 + Plasma cell leukemia + + + Preferential parent + + + + + + 454723 + Endometrioid carcinoma of ovary + + + Preferential parent + + + + + + 456333 + Hereditary neuroendocrine tumor of small intestine + + + Preferential parent + + + + + + 457246 + Clear cell sarcoma of kidney + + + Preferential parent + + + + + + 458758 + Composite hemangioendothelioma + + + Preferential parent + + + + + + 458763 + Retiform hemangioendothelioma + + + Preferential parent + + + + + + 458768 + Papillary intralymphatic angioendothelioma + + + Preferential parent + + + + + + 464329 + Kaposiform lymphangiomatosis + + + Preferential parent + + + + + + 464756 + Familial gastric type 1 neuroendocrine tumor + + + Preferential parent + + + + + + 466962 + SMARCA4-deficient sarcoma of thorax + + + Preferential parent + + + + + + 480541 + High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement + + + Preferential parent + + + + + + 481508 + Gastroenteric neuroendocrine neoplasm + + + Preferential parent + + + + + + 488280 + 14q32 duplication syndrome + + + Preferential parent + + + + + + 488647 + DDX41-related hematologic malignancy predisposition syndrome + + + Preferential parent + + + + + + 494418 + Vulvar carcinoma + + + Preferential parent + + + + + + 494448 + Vulvar squamous cell carcinoma + + + Preferential parent + + + + + + 494451 + Vulvar basal cell carcinoma + + + Preferential parent + + + + + + 494454 + Vulvar adenocarcinoma + + + Preferential parent + + + + + + 494547 + Squamous cell carcinoma of the hypopharynx + + + Preferential parent + + + + + + 494550 + Squamous cell carcinoma of the larynx + + + Preferential parent + + + + + + 495930 + Familial monosomy 7 syndrome + + + Preferential parent + + + + + + 497188 + Diffuse intrinsic pontine glioma + + + Preferential parent + + + + + + 498228 + Phyllodes tumor of the prostate + + + Preferential parent + + + + + + 500464 + Squamous cell carcinoma of the nasal cavity and paranasal sinuses + + + Preferential parent + + + + + + 500478 + Squamous cell carcinoma of the oropharynx + + + Preferential parent + + + + + + 502363 + Squamous cell carcinoma of the oral cavity + + + Preferential parent + + + + + + 502366 + Squamous cell carcinoma of the lip + + + Preferential parent + + + + + + 502369 + Squamous cell carcinoma of oral cavity and lip + + + Preferential parent + + + + + + 506052 + Neuroendocrine neoplasm of pancreas + + + Preferential parent + + + + + + 506060 + Functioning neuroendocrine tumor of pancreas + + + Preferential parent + + + + + + 506075 + Non-functioning neuroendocrine tumor of pancreas + + + Preferential parent + + + + + + 506090 + Serotonin-producing neuroendocrine tumor of pancreas + + + Preferential parent + + + + + + 506098 + Neuroendocrine carcinoma of pancreas + + + Preferential parent + + + + + + 506112 + Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas + + + Preferential parent + + + + + + 506136 + Neuroendocrine neoplasm of esophagus + + + Preferential parent + + + + + + 512017 + Chronic lymphoproliferative disorder of natural killer cells + + + Preferential parent + + + + + + 512034 + Large granular lymphocyte leukemia + + + Preferential parent + + + + + + 529468 + Monoclonal mast cell activation syndrome + + + Preferential parent + + + + + + 529852 + Combined hepatocellular carcinoma and cholangiocarcinoma + + + Preferential parent + + + + + + 530792 + RELA fusion-positive ependymoma + + + Preferential parent + + + + + + 530995 + Mixed phenotype acute leukemia + + + Preferential parent + + + + + + 538756 + Familial multiple discoid fibromas + + + Preferential parent + + + + + + 563666 + Serous cystadenoma of childhood + + + Preferential parent + + + + + + 563671 + Mucinous cystadenoma of childhood + + + Preferential parent + + + + + + 563676 + Seromucinous cystadenoma of childhood + + + Preferential parent + + + + + + 566393 + Acute mast cell leukemia + + + Preferential parent + + + + + + 566396 + Chronic mast cell leukemia + + + Preferential parent + + + + + + 566841 + Liver adenomatosis + + + Preferential parent + + + + + + 569164 + Angiomatoid fibrous histiocytoma + + + Preferential parent + + + + + + 569248 + Microcystic stromal tumor + + + Preferential parent + + + + + + 580572 + Intraductal tubulopapillary neoplasm of pancreas + + + Preferential parent + + + + + + 585867 + Acute myeloid leukemia with t(9;22)(q34.1;q11.2) + + + Preferential parent + + + + + + 585877 + B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality + + + Preferential parent + + + + + + 585909 + B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) + + + Preferential parent + + + + + + 585918 + B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) + + + Preferential parent + + + + + + 585929 + B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) + + + Preferential parent + + + + + + 585936 + B-lymphoblastic leukemia/lymphoma with hyperdiploidy + + + Preferential parent + + + + + + 585942 + B-lymphoblastic leukemia/lymphoma with hypodiploidy + + + Preferential parent + + + + + + 585948 + B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) + + + Preferential parent + + + + + + 585956 + B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) + + + Preferential parent + + + + + + 589534 + Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) + + + Preferential parent + + + + + + 589542 + Myeloid/lymphoid neoplasm associated with JAK2 rearrangement + + + Preferential parent + + + + + + 589595 + Mixed phenotype acute leukemia with t(v;11q23.3) + + + Preferential parent + + + + + + 590539 + Isolated melanotic schwannoma + + + Preferential parent + + + + + + 595133 + Perivascular epithelioid cell neoplasm + + + Preferential parent + + + + + + 598216 + Upper tract urothelial carcinoma + + + Preferential parent + + + + + + 617910 + Conjunctival malignant melanoma + + + Preferential parent + + + + + + 619340 + Inherited hematologic cancer-predisposing syndrome + + + Preferential parent + + + + + + 626609 + Rare andrological tumor + + + Preferential parent + + + + + + 631251 + Cancer of unknown primary site + + + Preferential parent + + + + + + 641372 + B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) + + + Preferential parent + + + + + + 641375 + B-lymphoblastic leukemia/lymphoma with t(17;19) + + + Preferential parent + + + + + + 652650 + Nodal T-follicular helper cell lymphoma, follicular type + + + Preferential parent + + + + + + 652658 + Monomorphic epitheliotropic intestinal T-cell lymphoma + + + Preferential parent + + + + + + 656417 + Embryonal tumor with multilayered rosettes + + + Preferential parent + + + + + + 658590 + Eyelid sebaceous carcinoma + + + Preferential parent + + + + + + 659744 + Ocular surface squamous neoplasia + + + Preferential parent + + + + + + 661526 + MBD4-related tumor predisposition syndrome + + + Preferential parent + + + + + + 662934 + Acute megakaryoblastic leukemia in adult + + + Preferential parent + + + + + + 664450 + Inherited cancer-predisposing lymphoproliferative syndrome + + + Preferential parent + + + + + + 667662 + Breast implant-associated anaplastic large cell lymphoma + + + Preferential parent + + + + + + 667678 + Intraoral basal cell carcinoma + + + Preferential parent + + + + + + 673538 + Littoral cell hemangioma of the spleen + + + Preferential parent + + + + + + 673543 + Papillary hemangioma + + + Preferential parent + + + + + + 673556 + Pseudomyogenic hemangioendothelioma + + + Preferential parent + + + + + + 673574 + Reactive angioendotheliomatosis + + + Preferential parent + + + + + + 673580 + Classic pilocytic astrocytoma + + + Preferential parent + + + + + + 673585 + Pilocytic astrocytoma with histological features of anaplasia + + + Preferential parent + + + + + + 675359 + Anastomosing haemangioma + + + Preferential parent + + + + + + 675396 + Epithelioid hemangioma + + + Preferential parent + + + + + + 675775 + Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome + + + Preferential parent + + + + + + 675814 + Adenomatoid tumour of the pleura + + + Preferential parent + + + + + + 675822 + Well-differentiated papillary mesothelial tumour of the pleura + + + Preferential parent + + + + + + 675833 + Localized pleural mesothelioma + + + Preferential parent + + + + + + 675837 + Diffused pleural mesothelioma + + + Preferential parent + + + + + + 675841 + Pleural mesothelioma in situ + + + Preferential parent + + + + + + 675976 + Adenomatoid tumour of the peritoneum + + + Preferential parent + + + + + + 676030 + Primary benign peritoneal tumor + + + Preferential parent + + + + + + 676033 + Well-differentiated papillary mesothelial tumour of the peritoneum + + + Preferential parent + + + + + + 676036 + Peritoneal mesothelioma in situ + + + Preferential parent + + + + + + 685004 + Primary pericardial mesothelioma + + + Preferential parent + + + + + + 685010 + Mesothelioma of the tunica vaginalis + + + Preferential parent + + + + + + 694963 + Inflammatory breast cancer + + + Preferential parent + + + + + + 695020 + Urachal carcinoma + + + Preferential parent + + + + + + 695023 + Pure squamous carcinoma of the urothelial tract + + + Preferential parent + + + + + + 695136 + Infant-type hemispheric glioma + + + Preferential parent + + + + + + 695631 + Primary vitreoretinal large B-cell lymphoma + + + Preferential parent + + + + + + 696078 + Central giant cell granuloma + + + Preferential parent + + + + + + 696830 + Female adnexal tumor of probable Wolffian origin + + + Preferential parent + + + + + + 714046 + Primary choroidal lymphoma + + + Preferential parent + + + + + + 715694 + Infant-type hemispheric glioma NTRK-altered + + + Preferential parent + + + + + + 715697 + Infant-type hemispheric glioma ALK-altered + + + Preferential parent + + + + + + 715701 + Infant-type hemispheric glioma ROS1-altered + + + Preferential parent + + + + + + 715704 + Infant-type hemispheric glioma MET-altered + + + Preferential parent + + + + + + 715721 + High-grade astrocytoma with piloid features + + + Preferential parent + + + + + + 715724 + Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype + + + Preferential parent + + + + + + 715950 + Diffuse hemispheric glioma-H3 G34-mutant + + + Preferential parent + + + + + + 717268 + Circumscribed astrocytic glioma + + + Preferential parent + + + + + + 2252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252 + Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 250972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 + Polymicrogyria with optic nerve hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 + Pancreatic hypoplasia-diabetes-congenital heart disease syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 250932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 + Autosomal dominant optic atrophy and peripheral neuropathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 251380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 + Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306 + Isotretinoin-like syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 + CK syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 + Isotretinoin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 + Sickle cell S-D Punjab disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 251375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 + Sickle cell S-E disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 251359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359 + Sickle cell-beta-thalassemia disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 251365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 + Sickle cell S-C disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 + Familial articular hypermobility syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 251535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251535 + Maternal disease-related embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 + Juberg-Hayward syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251558 + Rare tumor of neuroepithelial tissue + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 251523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 + Hyperzincemia and hypercalprotectinemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 + Johnson neuroectodermal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251529 + Toxic or drug-related embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 + Johanson-Blizzard syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 + 46,XY partial gonadal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515 + Distal arthrogryposis type 10 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310 + Absence deformity of leg-cataract syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 + Pachyonychia congenita + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 251393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 + Localized junctional epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 + IVIC syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295 + Pigmented paravenous retinochoroidal atrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 251290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 + Parietal foramina with clavicular hypoplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 + Dysmorphism-short stature-deafness-difference of sex development syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287 + Benign concentric annular macular dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 251282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282 + Autosomal dominant spastic ataxia type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 251279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 + Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 251274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 + Familial hyperaldosteronism type III + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 + Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 251262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 + Familial osteochondritis dissecans + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291 + Congenital velopharyngeal incompetence + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 251347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 + Ataxia-telangiectasia-like disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 251332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251332 + Unexplained long-lasting fever/inflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 251328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251328 + Unclassified vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 + Neuronal intranuclear inclusion disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 251325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251325 + Drug-induced vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 + Microvillus inclusion disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 2287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287 + Fused mandibular incisors + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 251312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251312 + Overlapping connective tissue disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285 + Primary basilar invagination + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 251307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251307 + Idiopathic recurrent pericarditis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 251304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304 + Infantile onset panniculitis with uveitis and systemic granulomatosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 254843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843 + Exercise intolerance with lactic acidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2674 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 + Cyprus facial-neuromusculoskeletal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846 + Isolated oxidative phosphorylation complex disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837 + Unspecified mitochondrial disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 + Neurofaciodigitorenal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2672 + Neuhauser-Eichner-Opitz syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 254857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 + Lethal infantile mitochondrial myopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678 + Familial isolated café-au-lait macules + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 254864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 + Mitochondrial myopathy with reversible cytochrome C oxidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851 + Mitochondrial DNA-related dystonia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854 + Pure mitochondrial myopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668 + Nephropathy-deafness-hyperparathyroidism syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 254807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807 + Multiple mitochondrial DNA deletion syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 + Nathalie syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818 + Ataxia neuropathy spectrum + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 + Keipert syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 + Mitochondrial DNA depletion syndrome, encephalomyopathic form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 + Neu-Laxova syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830 + Mitochondrial substrate carrier disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 + Renal coloboma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834 + Mitochondrial protein import disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 + Pierson syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 254822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822 + Mitochondrial oxidative phosphorylation disorder with no known mechanism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2669 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 + Nephrosis-deafness-urinary tract-digital malformations syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827 + Mitochondrial membrane transport disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 + Combined oxidative phosphorylation defect type 7 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 + Combined oxidative phosphorylation defect type 4 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 + Arthrogryposis-renal dysfunction-cholestasis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 + Combined oxidative phosphorylation defect type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 + Bifid nose + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 + Isolated ATP synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 255182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 + Pyruvate dehydrogenase E3-binding protein deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 + Noonan syndrome-like disorder with loose anagen hair + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 255138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 + Pyruvate dehydrogenase E1-beta deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 255132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 + Adult-onset autosomal recessive sideroblastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 + Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699 + Median nodule of the upper lip + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 + Autosomal recessive progressive external ophthalmoplegia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 + Spinocerebellar ataxia with epilepsy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 + Mitochondrial DNA depletion syndrome, myopathic form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 + Mitochondrial DNA depletion syndrome, hepatocerebral form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 + Isolated cytochrome C oxidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 + Renal tubulopathy-encephalopathy-liver failure syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 + Neutropenia-monocytopenia-deafness syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 254898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 + Deafness-encephaloneuropathy-obesity-valvulopathy syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 + Autosomal dominant progressive external ophthalmoplegia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 + Oculofaciocardiodental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 + Oculo-palato-cerebral syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 + Oculoosteocutaneous syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 + Severe oculo-renal-cerebellar syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 + Oculotrichodysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 + Oculotrichoanal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 + Urofacial syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 + Port-wine nevi-mega cisterna magna-hydrocephalus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 255210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 + Mitochondrial DNA-associated Leigh syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 255229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 + Navajo neurohepatopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 + Oculocerebrofacial syndrome, Kaufman type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 255235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 + Oculodentodigital dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709 + Oculodental syndrome, Rutherfurd type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 + Blepharophimosis-intellectual disability syndrome, Ohdo type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2730 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730 + Postaxial tetramelic oligodactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2732 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732 + Olivopontocerebellar atrophy-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733 + Omodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 + Oculocerebral hypopigmentation syndrome, Cross type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 + Oculocerebral hypopigmentation syndrome, Preus type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 + Odonto-onycho-dermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 + Odonto-onycho dysplasia-alopecia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 + Odontotrichomelic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724 + Odontomatosis-aortae esophagus stenosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 260305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305 + Autosomal recessive sideroblastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 + Orofaciodigital syndrome type 8 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 + Orofaciodigital syndrome type 6 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 252164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252164 + Benign schwannoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 + Orofaciodigital syndrome type 4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 + Orofaciodigital syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 252128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252128 + Malignant peripheral nerve sheath tumor with perineurial differentiation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 + Orofaciodigital syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 252131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252131 + Benign peripheral nerve sheath tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252057 + Tumor of cranial and spinal nerves + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252050 + Primary melanoma of the central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 + Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 252054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252054 + Hemangioblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741 + Ophthalmomandibulomelic dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 252031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252031 + Diffuse leptomeningeal melanocytosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252046 + Meningeal melanocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252025 + Tumor of meninges + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252028 + Primary melanocytic tumor of central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018 + Teratoma of the central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 + Congenital central hypoventilation syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 + Lethal omphalocele-cleft palate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 252021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021 + Mixed germ cell tumor of central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 254367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254367 + Rare lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 + Autosomal recessive distal osteolysis syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 + Osteomesopyknosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 + Plectin-related limb-girdle muscular dystrophy R17 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 + Multicentric carpo-tarsal osteolysis with or without nephropathy + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351 + Distal 7q11.23 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769 + Familial osteodysplasia, Anderson type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346 + 19p13.12 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2770 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 + Nasu-Hakola disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 + Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767 + Carpotarsal osteochondromatosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768 + Blount disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 + Progressive osseous heteroplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 252212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212 + Malignant triton tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 + Osteocraniostenosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 252206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206 + Melanoma and neural system tumor syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 252202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 + Constitutional mismatch repair deficiency syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759 + Imperforate oropharynx-costovertebral anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 + OSLAM syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 252190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252190 + Inherited nervous system cancer-predisposing syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 252183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252183 + Neurofibroma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 252175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175 + Vestibular schwannoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 254516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 + Temple syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 + Otoonychoperoneal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 + Otofaciocervical syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 + Kagami-Ogata syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 + Temple syndrome due to paternal 14q32.2 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 + Pachygyria-intellectual disability-epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 + Pachydermoperiostosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 + Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254478 + Lichen planus pemphigoides + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 + Lateral meningocele syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 + Osteoporosis-pseudoglioma syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492 + Frontal fibrosing alopecia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 + Otodental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504 + Inhalational botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 + Endosteal hyperostosis, Worth type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509 + Iatrogenic botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 254411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254411 + Annular atrophic lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 254424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254424 + Annular lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 + Autosomal dominant osteopetrosis type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254449 + Atrophic lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786 + Osteoporosis-oculocutaneous hypopigmentation syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254463 + Lichen planus pigmentosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 254370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254370 + Rare cutaneous lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 + Osteopathia striata-cranial sclerosis syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254373 + Rare mucosal lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2779 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 + Osteopathia striata-pigmentary dermopathy-white forelock syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 254379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254379 + Linear lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 254395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254395 + Actinic lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 + Autosomal recessive malignant osteopetrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815 + Spastic paraparesis-deafness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 254767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767 + Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758 + Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 254788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788 + Mitochondrial DNA-related mitochondrial myopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 + Spastic paraplegia-glaucoma-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 254776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776 + Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808 + Laryngeal abductor paralysis + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 2809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809 + Familial recurrent peripheral facial palsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 254749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749 + Tricarboxylic acid cycle disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812 + Parana hard skin syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 254746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746 + Pyruvate metabolism disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 + Partial pancreatic agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698 + Epithelioid trophoblastic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 254693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693 + Partial hydatidiform mole + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675 + Annular pancreas + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807 + Papilloma of choroid plexus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 + Papillon-Lefèvre syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 254704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704 + Genetic hyperferritinemia without iron overload + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 254534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 + Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 + X-linked sideroblastic anemia and spinocerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 254531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 + Temple syndrome due to paternal 14q32.2 hypomethylation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688 + Complete hydatidiform mole + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 + W syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 254685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254685 + Gestational trophoblastic disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491 + Müllerian duct anomalies-limb anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 + FATCO syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 + Syndactyly type 8 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 + Metachondromatosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 + Mesomelia-synostoses syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497 + Upper limb mesomelic dysplasia, type Fryns + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2502 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 + Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 + Acrogeria + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 + Metaphyseal chondrodysplasia, Spahr type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 + Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 + Multiple benign circumferential skin creases on limbs + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 + Microbrachycephaly-ptosis-cleft lip syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261766 + Partial deletion of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 + Micro syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 + Corpus callosum agenesis-abnormal genitalia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261781 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261781 + Partial deletion of chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516 + Microcephaly-cardiac defect-lung malsegmentation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261786 + Partial deletion of chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 + Microcephaly-cardiomyopathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261771 + Partial deletion of chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 + Autosomal dominant primary microcephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261776 + Partial deletion of chromosome 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513 + Microcephaly-albinism-digital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261801 + Partial deletion of chromosome 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2521 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 + Microcephaly-cleft palate-abnormal retinal pigmentation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261806 + Partial deletion of chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261791 + Partial deletion of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 + Autosomal recessive chorioretinopathy-microcephaly syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 261796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261796 + Partial deletion of chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261821 + Partial deletion of the long arm of chromosome 12 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 + Pontocerebellar hypoplasia type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261826 + Partial deletion of chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261811 + Partial deletion of chromosome 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 + Microcephaly-brain defect-spasticity-hypernatremia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261816 + Partial deletion of chromosome 11 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 + Microcephaly-cervical spine fusion anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261836 + Partial deletion of chromosome 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 + Microcephaly-lymphedema-chorioretinopathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261831 + Partial deletion of chromosome 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261846 + Partial deletion of chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 + Microcephaly-microcornea syndrome, Seemanova type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261841 + Partial deletion of chromosome 19 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261866 + Partial deletion of the short arm of chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261857 + Partial deletion of the short arm of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261884 + Partial deletion of the short arm of chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 + Microcephaly-deafness-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261875 + Partial deletion of the short arm of chromosome 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261902 + Partial deletion of the short arm of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536 + Microcornea-glaucoma-absent frontal sinuses syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261893 + Partial deletion of the short arm of chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261920 + Partial deletion of the short arm of chromosome 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261911 + Partial deletion of the short arm of chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261938 + Partial deletion of the short arm of chromosome 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261929 + Partial deletion of the short arm of chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261956 + Partial deletion of the short arm of chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261947 + Partial deletion of the short arm of chromosome 11 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261965 + Partial deletion of the short arm of chromosome 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 + Oculoauriculovertebral spectrum with radial defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261974 + Partial deletion of the short arm of chromosome 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261983 + Partial deletion of the short arm of chromosome 19 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 + Microspherophakia-metaphyseal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261992 + Partial deletion of the short arm of chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262001 + Partial deletion of the long arm of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 + Ear-patella-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262010 + Partial deletion of the long arm of chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262019 + Partial deletion of the long arm of chromosome 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 + Microphthalmia with linear skin defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262029 + Partial deletion of the long arm of chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262038 + Partial deletion of the long arm of chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558 + Mikati-Najjar-Sahli syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262047 + Partial deletion of the long arm of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 + Mietens syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 + Pyramidal molars-abnormal upper lip syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262056 + Partial deletion of the long arm of chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262065 + Partial deletion of the long arm of chromosome 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 + Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564 + Tetramelic monodactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262074 + Partial deletion of the long arm of chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262083 + Partial deletion of the long arm of chromosome 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563 + MOMO syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262092 + Partial deletion of the long arm of chromosome 11 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262101 + Partial deletion of the long arm of chromosome 13 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2565 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565 + Mononen-Karnes-Senac syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 + Muckle-Wells syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 + Spastic ataxia-corneal dystrophy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 + Moyamoya disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570 + Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571 + X-linked immunoneurologic disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 261183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183 + 15q11.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 + Ataxia-pancytopenia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 261144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 + FOXG1 syndrome due to 14q12 microdeletion + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 261120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120 + 14q11.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 + Mayer-Rokitansky-Küster-Hauser syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2579 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579 + Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 261112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112 + Monosomy 9p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102 + Distal 7q11.23 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576 + Mulibrey nanism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236 + 16p13.11 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 + N syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243 + 16p13.11 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 + Distal 16p11.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 + Carney complex + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 + Tubular aggregate myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 261229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229 + 14q11.2 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 + Spinal muscular atrophy-progressive myoclonic epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 261204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204 + 16p11.2p12.2 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 + Myoclonus-cerebellar ataxia-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211 + 16p11.2p12.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 + Myhre syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 + Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197 + Proximal 16p11.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295 + 20p12.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304 + Paternal 20q13.2q13.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279 + 17q23.1q23.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290 + Trisomy 17p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617 + Microcephalic primordial dwarfism, Montreal type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265 + 17q12 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272 + 17q12 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 + 3M syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 261250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250 + 16q24.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 + Nail-patella-like renal disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 261257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257 + Distal 17p13.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344 + Trisomy 1q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337 + Distal 22q11.2 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 + Xp21 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349 + 2p15p16.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318 + Trisomy 20p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311 + 20q13.33 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 + Geleophysic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 261330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330 + Distal 22q11.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 + 21q22.11q22.12 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524 + Paternal uniparental disomy of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 + Fibular aplasia-complex brachydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519 + Maternal uniparental disomy of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534 + 49,XXXYY syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529 + Ring chromosome Y syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 + Mesomelic dwarfism-cleft palate-camptodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494 + Kleefstra syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483 + Xq27.3q28 duplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 + Langer mesomelic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633 + Mesomelic dysplasia, Nievergelt type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 261501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501 + Atypical Norrie disease due to Xp11.3 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634 + Mesomelic dwarfism, Reinhardt-Pfeiffer type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2645 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 + Osteoglosphonic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 261584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 + 5q22 microdeletion syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 261600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 + Alagille syndrome due to 20p12 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 + Alagille syndrome due to a JAG1 point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261537 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 + Mowat-Wilson syndrome due to monosomy 2q22 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 + Microcephalic primordial dwarfism, Toriello type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 261552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 + Mowat-Wilson syndrome due to a ZEB2 point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 + Microcephalic osteodysplastic primordial dwarfism types I and III + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 + Lenz-Majewski hyperostotic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 261629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 + Alagille syndrome due to a NOTCH2 point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 + Okihiro syndrome due to 20q13 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 + Okihiro syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 261652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 + Kleefstra syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200 + 14q22q23 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263793 + Uniparental disomy of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263783 + Partial duplication of the long arm of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263775 + Partial duplication of the short arm of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263768 + Partial duplication of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 + Monoamine oxidase A deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 + X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263756 + Partial deletion of the long arm of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263749 + X and Y chromosomal anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263746 + Y chromosome number anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 + X-linked intellectual disability-seizures-psoriasis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263731 + Partial deletion of the short arm of the chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263726 + Partial deletion of chromosome X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 + Blepharophimosis-intellectual disability syndrome, SBBYS type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263723 + Polysomy of X chromosome syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263720 + X chromosome number anomaly with male phenotype syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 + Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263714 + X chromosome number anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 + Intellectual disability-cataracts-calcified pinnae-myopathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 263717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263717 + X chromosome number anomaly with female phenotype syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 + Intellectual disability-balding-patella luxation-acromicria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263708 + Complex chromosomal rearrangement syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 + Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263665 + NK-cell enteropathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 3035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035 + Growth delay-hydrocephaly-lung hypoplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662 + Familial multiple meningioma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034 + Delayed membranous cranial ossification + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 263548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 + Peeling skin syndrome type A + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033 + Renal tubular dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 + Peeling skin syndrome type B + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 + NPHP3-related Meckel-like syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 263534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 + Acral peeling skin syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 263543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543 + Generalized peeling skin syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 263516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 + Progressive myoclonic epilepsy type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 263524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524 + Acute necrotizing encephalopathy of childhood + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 263501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 + COG4-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 + Radial ray hypoplasia-choanal atresia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 + COG1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 263482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 + Spondyloepimetaphyseal dysplasia, Maroteaux type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 + RAPADILINO syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263479 + Fuchs heterochromic iridocyclitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 263494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 + DPM3-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 + External auditory canal atresia-vertical talus-hypertelorism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 + COG5-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 263458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458 + Hyperinsulinism due to INSR deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 263455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 + Congenital hyperinsulinism due to HNF4A deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 + Osteosclerotic bone dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3018 + Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 3019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 + Ramon syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 263463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 + CHST3-related skeletal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 263432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432 + Nevus of Ito + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 263425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425 + Nevus of Ota + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 + Radio-renal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 + Neuroacanthocytosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 263435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435 + Congenital smooth muscle hamartoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016 + Absent radius-anogenital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 + Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 + Qazi-Markouizos syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 + Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 + Rabson-Mendenhall syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 263413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413 + Angiosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003 + Pyknoachondrogenesis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 263335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335 + Moderately-differentiated thymic neuroendocrine carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 263339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339 + Poorly differentiated thymic neuroendocrine carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 + Pyle disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 263347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 + MRCS syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 263352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263352 + Postcardiotomy right ventricular failure + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 3004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004 + Mirror polydactyly-vertebral segmentation-limbs defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263310 + Thymoma type A + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997 + Ptosis-vocal cord paralysis syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 263317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263317 + Thymoma type B + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 263324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263324 + Thymoma type AB + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 + Ptosis-strabismus-ectopic pupils syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 263331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331 + Well-differentiated thymic neuroendocrine carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2990 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 + Autosomal recessive multiple pterygium syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 263297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 + Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987 + Antecubital pterygium syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 + Pseudoprogeria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2989 + Familial pterygium of the conjunctiva + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 2988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988 + Pterygium colli-intellectual disability-digital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262995 + Partial duplication of the long arm of chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262986 + Partial duplication of the long arm of chromosome 19 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 + Ulnar-mammary syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262977 + Partial duplication of the long arm of chromosome 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262968 + Partial duplication of the long arm of chromosome 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145 + Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 3143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143 + Autoimmune polyendocrinopathy type 2 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 + Schneckenbecken dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 263004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263004 + Partial duplication of the long arm of chromosome 22 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262923 + Partial duplication of the long arm of chromosome 11 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 + Say-Barber-Miller syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262914 + Partial duplication of the long arm of chromosome 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262905 + Partial duplication of the long arm of chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130 + Satoyoshi syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 262896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262896 + Partial duplication of the long arm of chromosome 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262959 + Partial duplication of the long arm of chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 + Schinzel-Giedion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262950 + Partial duplication of the long arm of chromosome 15 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262941 + Partial duplication of the long arm of chromosome 14 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 + SCARF syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262932 + Partial duplication of the long arm of chromosome 13 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121 + Ruvalcaba syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262842 + Partial duplication of the long arm of chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262851 + Partial duplication of the long arm of chromosome 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262833 + Partial duplication of the long arm of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262878 + Partial duplication of the long arm of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262887 + Partial duplication of the long arm of chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262860 + Partial duplication of the long arm of chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262869 + Partial duplication of the long arm of chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262767 + Partial duplication/triplication of the short arm of chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262776 + Partial duplication of the short arm of chromosome 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 + Rothmund-Thomson syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262749 + Partial duplication of the short arm of chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110 + Rombo syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 262758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262758 + Partial duplication of the short arm of chromosome 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262803 + Partial duplication of the short arm of chromosome 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262812 + Partial duplication/triplication of the short arm of chromosome 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 + Roussy-Lévy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 262785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262785 + Partial duplication of the short arm of chromosome 11 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262794 + Partial duplication of the short arm of chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 + Richieri Costa-da Silva syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 262687 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262687 + Partial duplication of chromosome 19 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 + Richieri Costa-Pereira syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262682 + Partial duplication/triplication of chromosome 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104 + Robin sequence-oligodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262698 + Partial duplication of the short arm of chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262692 + Partial duplication of chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262716 + Partial duplication of the short arm of chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262707 + Partial duplication of the short arm of chromosome 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 + Autosomal dominant Robinow syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262740 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262740 + Partial duplication of the short arm of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262725 + Partial duplication/triplication of the short arm of chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 + Mayer-Rokitansky-Küster-Hauser syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262643 + Partial duplication/triplication of chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262638 + Partial duplication of chromosome 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 + Autosomal dominant vitreoretinochoroidopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 262653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262653 + Partial duplication of chromosome 11 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 + Revesz syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 262648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262648 + Partial duplication of chromosome 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 + Congenital pulmonary venous return anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262658 + Partial duplication/triplication of the short arm of chromosome 12 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 + Meacham syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098 + Rhizomelic syndrome, Urbach type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 262677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262677 + Partial duplication of chromosome 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262672 + Partial duplication of chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262182 + Partial deletion of the long arm of chromosome 22 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262191 + Partial duplication of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262196 + Partial duplication of chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262201 + Partial duplication of chromosome 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 + Severe X-linked intellectual disability, Gustavson type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262206 + Partial duplication of chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 + X-linked intellectual disability-psychosis-macroorchidism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262211 + Partial duplication/triplication of chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262628 + Partial duplication of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080 + Intellectual disability, Wolff type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262633 + Partial duplication of chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079 + Intellectual disability, Buenos-Aires type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262110 + Partial deletion of the long arm of chromosome 14 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 + X-linked intellectual disability, Snyder type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262119 + Partial deletion of the long arm of chromosome 15 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262128 + Partial deletion of the long arm of chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262137 + Partial deletion of the long arm of chromosome 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262146 + Partial deletion of the long arm of chromosome 18 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 + Intellectual disability-myopathy-short stature-endocrine defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262155 + Partial deletion of the long arm of chromosome 19 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262164 + Partial deletion of the long arm of chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 262173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262173 + Partial deletion of the long arm of chromosome 21 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843 + Malformation of the neurenteric canal, spinal cord and column + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 + TARP syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861 + Primary tethered cord syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 + Piebald trait-neurologic defects syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 + Piebaldism + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881 + Cutaneous photosensitivity-lethal colitis syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 2879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 + Phocomelia, Schinzel type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826 + Parietal encephalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829 + Basal encephalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 + Arnold-Chiari malformation type I + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 + Pilodental dysplasia-refractive errors syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891 + Pili torti-developmental delay-neurological abnormalities syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889 + Pili torti + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890 + Pili torti-onychodysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865 + Neurenteric cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888 + Pierre Robin syndrome-faciodigital anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868 + Isolated amyelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865 + Short stature-webbed neck-heart disease syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866 + Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863 + Short stature-wormian bones-dextrocardia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744 + Spinal dysraphism with a posterior meningocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 + Phakomatosis pigmentovascularis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 + Occipital encephalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2876 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876 + PHAVER syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820 + Cranial meningocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268817 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817 + Cephalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 + Phakomatosis pigmentokeratotica + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 + Myelocystocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 + Isolated posterior meningocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871 + Pfeiffer-Palm-Teller syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 + Cardiocranial syndrome, Pfeiffer type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867 + Short stature, Brussels type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868 + Short stature-valvular heart disease-characteristic facies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846 + Congenital pericardium anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 + Penoscrotal transposition + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2848 + Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847 + Pericardial and diaphragmatic defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357 + Neural tube closure defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 + Renal caliceal diverticuli-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322 + Hereditary thrombocytopenia with normal platelets + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840 + Pelvic dysplasia-arthrogryposis of lower limbs syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839 + Pelvis-shoulder dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268337 + Autosomal recessive intermediate Charcot-Marie-Tooth disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 + Perrault syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 + Fuhrmann syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 + Peters anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363 + Open iniencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366 + Closed iniencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 + Alopecia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369 + Open spinal dysraphism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 + RAS-associated autoimmune leukoproliferative disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 + PARC syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2826 + Spastic paraplegia-precocious puberty syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 268139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268139 + Intraocular medulloepithelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 268129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 + Spheroid body myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2819 + Spastic paraplegia-facial-cutaneous lesions syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 + Spastic paraplegia-nephritis-deafness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2821 + Spastic paraplegia-neuropathy-poikiloderma syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 + Autosomal recessive spastic paraplegia type 11 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 + Pectus excavatum-macrocephaly-dysplastic nails syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 + DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 + PEHO syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 268249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249 + Mycophenolate mofetil embryopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268316 + Complication in hemodialysis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 268162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 + Intermediate maple syrup urine disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832 + Short tarsus-absence of lower eyelashes syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 + Classic maple syrup urine disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 268184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 + Thiamine-responsive maple syrup urine disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 + Stiff skin syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 + Wrinkly skin syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 268173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 + Intermittent maple syrup urine disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 + Proteus-like syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964 + Autosomal dominant prognathism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 + De Barsy syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 + 46,XX difference of sex development-anorectal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972 + Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 + Pseudoachondroplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976 + Pseudoleprechaunism syndrome, Patterson type + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 + 46,XX difference of sex development-skeletal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980 + Acrootoocular syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 + Chronic intestinal pseudoobstruction syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 264973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264973 + Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264968 + Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 + Brachydactyly-long thumb syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 + Renal agenesis, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264949 + Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951 + Absent thumb-short stature-immunodeficiency syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264992 + Genetic interstitial lung disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947 + Triphalangeal thumbs-brachyectrodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264984 + Exposure-related interstitial lung disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978 + Drug or radiation exposure-related interstitial lung disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 + Acrodysplasia scoliosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 + Adducted thumbs-arthrogryposis syndrome, Christian type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 740 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 + Hutchinson-Gilford progeria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 + Progeria-short stature-pigmented nevi syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 + Guttmacher syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958 + X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 + Isolated polycystic liver disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 264694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264694 + Interstitial lung disease specific to infancy + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264699 + Secondary interstitial lung disease specific to childhood associated with a systemic disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264704 + Secondary interstitial lung disease specific to childhood associated with a connective tissue disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2926 + Digital extensor muscle aplasia-polyneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 264709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264709 + Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264714 + Secondary interstitial lung disease specific to childhood associated with a granulomatous disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2928 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928 + Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 264719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264719 + Secondary interstitial lung disease specific to childhood associated with a metabolic disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 + Cronkhite-Canada syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264735 + Interstitial lung disease specific to adulthood + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264740 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264740 + Primary interstitial lung disease specific to adulthood + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935 + Crossed polysyndactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264745 + Secondary interstitial lung disease specific to adulthood associated with a systemic disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934 + Polysyndactyly-cardiac malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264757 + Interstitial lung disease in childhood and adulthood + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264762 + Primary interstitial lung disease in childhood and adulthood + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264930 + Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941 + Porencephaly-cerebellar hypoplasia-internal malformations syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264935 + Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264944 + Secondary interstitial lung disease in childhood and adulthood + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 + Porencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 + Pitt-Hopkins syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 + Brachyolmia-amelogenesis imperfecta syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 2900 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900 + Leri pleonosteosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264431 + Partial duplication of the short arm of chromosome 1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 + POEMS syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 264450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450 + Trisomy 8p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907 + Hereditary acrokeratotic poikiloderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 + Poland syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 + Glycogen storage disease due to liver phosphorylase kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 264656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264656 + Interstitial lung disease specific to childhood + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916 + Postaxial polydactyly-dental and vertebral anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264670 + Primary interstitial lung disease specific to childhood due to alveolar structure disorder + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917 + Polydactyly-myopia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264665 + Primary interstitial lung disease specific to childhood + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 264683 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264683 + Primary interstitial lung disease specific to childhood due to alveolar vascular disorder + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 + Orofaciodigital syndrome type 5 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 + Hereditary pulmonary alveolar proteinosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 + Oliver syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264691 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691 + Isolated pulmonary capillaritis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921 + Preaxial polydactyly-colobomata-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 264688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688 + Congenital chylothorax + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 3374 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3374 + Unilateral ocular duplication + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 275803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275803 + Pulmonary arterial hypertension associated with congenital heart disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 275808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275808 + Pulmonary arterial hypertension associated with HIV infection + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 275813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275813 + Pulmonary arterial hypertension associated with portal hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717 + Distal duplication 19q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377 + Trismus-pseudocamptodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275823 + Pulmonary arterial hypertension associated with schistosomiasis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 3368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368 + Trigonocephaly-bifid nose-acral anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 + Heritable pulmonary arterial hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 275786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786 + Drug- or toxin-induced pulmonary arterial hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 275791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275791 + Pulmonary arterial hypertension associated with another disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 3369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 + Trigonocephaly-short stature-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798 + Pulmonary arterial hypertension associated with connective tissue disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 3363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 + Trichomegaly-retina pigmentary degeneration-dwarfism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749 + Beta-thalassemia and related disorders + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 275752 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752 + Sickle cell disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 275761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 + Lysosomal acid lipase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 + Non-syndromic metopic craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365 + Trigonocephaly-broad thumbs syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766 + Idiopathic pulmonary arterial hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 275729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275729 + Rare hemorrhagic disorder due to a constitutional thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 275736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275736 + Rare hemorrhagic disorder due to a qualitative platelet defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 3361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361 + Trichodysplasia-xeroderma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 275742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275742 + Genetic infertility + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 275745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745 + Alpha-thalassemia and related disorders + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 3408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408 + Upington disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 276148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148 + Benign epithelial tumor of salivary glands + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 3409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409 + Urban-Rogers-Meyer syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145 + Malignant epithelial tumor of salivary glands + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 276161 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161 + Multiple endocrine neoplasia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 + VACTERL with hydrocephalus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 + Multiple endocrine neoplasia type 4 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 276061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276061 + Genetic frontotemporal degeneration with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3403 + Uhl anomaly + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 276058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276058 + Genetic neurodegenerative disease with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 + Ulbright-Hodes syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276142 + Rare tumor of salivary glands + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 276066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 + Bile acid CoA ligase deficiency and defective amidation + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 275872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 + Frontotemporal dementia with motor neuron disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383 + Humerus trochlea aplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384 + Common arterial trunk + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 + Behavioral variant of frontotemporal dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 275944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275944 + Hemolytic disease of the newborn with Kell alloimmunization + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 3387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387 + Isolated anterior cervical hypertrichosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388 + Neural tube defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275938 + Hemolytic disease due to fetomaternal alloimmunization + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 275837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275837 + Pulmonary hypertension owing to lung disease and/or hypoxia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723 + Mosaic trisomy 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275828 + Pulmonary arterial hypertension associated with chronic hemolytic anemia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724 + Mosaic trisomy 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275853 + Syndrome with pulmonary hypertension as a major feature + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747 + Mosaic trisomy 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275844 + Pulmonary hypertension with unclear multifactorial mechanism + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 271841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271841 + Genetic cardiac tumor + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 271832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271832 + Genetic soft tissue tumor + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 271835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271835 + Genetic digestive tract tumor + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 3329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 + Tibial aplasia-ectrodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 + Absent tibia-polydactyly-arachnoid cyst syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327 + Thyrocerebrorenal syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 3326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 + Thymic-renal-anal-lung dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 + Hoyeraal-Hreidarsson syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 + Thoracolaryngopelvic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 + Thomas syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314 + Thiemann disease, familial form + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 + Trichoodontoonychial dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275555 + Preeclampsia + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 275543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 + L1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 + Trichodermodysplasia-dental alterations syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523 + Dianzani autoimmune lymphoproliferative disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 + Trichodental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 275517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517 + Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 + Tricho-dento-osseous syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3350 + Tremor-nystagmus-duodenal ulcer syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344 + Weismann-Netter syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3347 + Mounier-Kühn syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 3341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341 + Torticollis-keloids-cryptorchidism-renal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 271870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271870 + Rare genetic systemic or rheumatologic disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 + Arterial tortuosity syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 3339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 + Oculoectodermal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 271861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 + Hereditary ATTR amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 271853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271853 + Genetic cardiac anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 271847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271847 + Genetic neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 + Toriello-Carey syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 271844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271844 + Genetic urogenital tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469 + XK aprosencephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269567 + Genetic syndrome with a cerebellar malformation as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269570 + Genetic syndrome with a Dandy-Walker malformation as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 + Yunis-Varon syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 269573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269573 + Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471 + Young syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 3319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 + Congenital amegakaryocytic thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 3473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 + Zimmermann-Laband syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 + Wilson-Turner syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269531 + Other syndrome with a central nervous system malformation as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269546 + Syndrome with a Dandy-Walker malformation as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269550 + Genetic non-syndromic central nervous system malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 + Woodhouse-Sakati syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 269553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269553 + Genetic cerebral malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269557 + Genetic posterior fossa malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 + WT limb-blood syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269560 + Genetic cerebellar malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3465 + Worster-Drought syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 269564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269564 + Genetic syndrome with a central nervous system malformation as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 + Oromandibular-limb hypogenesis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 + Baraitser-Winter cerebrofrontofacial syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200 + Arthrogryposis-ectodermal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570 + Symbrachydactyly of hands and feet + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 + Sweet syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 + Acromelic frontonasal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 + X-linked intellectual disability-epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 268980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 + Isolated focal cortical dysplasia type Ib + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 268987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 + Isolated focal cortical dysplasia type Ic + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 + Velo-facial-skeletal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 + Isolated focal cortical dysplasia type Ia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 269008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 + Isolated focal cortical dysplasia type IIb + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 + Microcephaly-brachydactyly-kyphoscoliosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190 + Encephaloclastic disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 + Isolated focal cortical dysplasia type II + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 + Verloove Vanhorick-Brubakk syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 + Isolated focal cortical dysplasia type IIa + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 + Van den Ende-Gupta syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 + Bilateral polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 + Unilateral polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 + Hyperostosis corticalis generalisata + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 268926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926 + Midline cerebral malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936 + Isolated arhinencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 + Isolated focal cortical dysplasia type I + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 268947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 + Unilateral focal polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 268950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 + Cerebral cortical dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229 + Pontine tegmental cap dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 + Autoimmune polyendocrinopathy type 1 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 269224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269224 + Global cerebellar malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 + Weaver-Williams syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269221 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221 + Isolated bilateral hemispheric cerebellar hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 + Weill-Marchesani syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218 + Isolated unilateral hemispheric cerebellar hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456 + Wildervanck syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269528 + Syndrome with microcephaly as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269523 + Syndrome with a cerebellar malformation as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 + Congenital non-communicating hydrocephalus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 + Wieacker-Wolff syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 + Wiedemann-Rautenstrauch syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 + Congenital communicating hydrocephalus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203 + Isolated cerebellar vermis agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197 + Glioependymal/ependymal cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 + MMEP syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269194 + Central nervous system cystic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 + Isolated Dandy-Walker malformation without hydrocephalus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 + Isolated Dandy-Walker malformation with hydrocephalus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209 + Isolated partial cerebellar vermis agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 269206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206 + Isolated total cerebellar vermis agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 + Spondyloperipheral dysplasia-short ulna syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 280315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280315 + Autoimmune pancreatitis type 2 + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 3181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3181 + Sprengel deformity + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302 + Autoimmune pancreatitis type 1 + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 280333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 + Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325 + Distal deletion 12p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 + Pelizaeus-Merzbacher-like disease due to AIMP1 mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 + Pelizaeus-Merzbacher-like disease due to HSPD1 mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280369 + Rare pediatric vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 + Corneodermatoosseous syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 + Autosomal semi-dominant severe lipodystrophic laminopathy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 280379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 + Erythropoietic uroporphyria associated with myeloid malignancy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 + Hereditary hyperekplexia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199 + Stimmler syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280373 + Rare pediatric systemic disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 + Steatocystoma multiplex-natal teeth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280342 + Rare systemic or rheumatological disease of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 + Holoprosencephaly-radial heart renal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 + Subaortic stenosis-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 + Supravalvular aortic stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 + PLIN1-related familial partial lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 + Deaf blind hypopigmentation syndrome, Yemenite type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280400 + Inherited human prion disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403 + Familial omphalocele syndrome with facial dysmorphism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 + Familial steroid-resistant nephrotic syndrome with sensorineural deafness + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 3201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 + Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 + Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 + Familial Alzheimer-like prion disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 + Nestor-Guillermo progeria syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 + Deafness-enamel hypoplasia-nail defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 + Fountain syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 + Phosphoribosylpyrophosphate synthetase superactivity + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 280586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 + Chondrodysplasia with joint dislocations, gPAPP type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217 + Deafness-small bowel diverticulosis-neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 + Fatal infantile hypertonic myofibrillar myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 + Warsaw breakage syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216 + Conductive deafness-malformed external ear syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218 + Deafness-epiphyseal dysplasia-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280065 + Calciphylaxis cutis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 + Nijmegen breakage syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280062 + Calciphylaxis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 279947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279947 + Postorgasmic illness syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 279943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943 + Hereditary neutrophilia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 279934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 + Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 + Sclerosteosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 279928 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279928 + Paraneoplastic uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 279925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279925 + Infectious panuveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 279922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279922 + Infectious anterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 + Combined immunodeficiency due to LCK deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 + Omphalocele syndrome, Shprintzen-Goldberg type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168 + Sillence syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133 + Complement component 3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 + SHORT syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 + Atrial septal defect-atrioventricular conduction defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 + Senior-Loken syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 280071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 + ALG11-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 280068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280068 + Visceral calciphylaxis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 + Septo-optic dysplasia spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180 + Spondylocamptodactyly syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 280210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 + Pelizaeus-Merzbacher disease, connatal form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 + Pelizaeus-Merzbacher disease, classic form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 + Microform holoprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 + Spinocerebellar degeneration-corneal dystrophy syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 + Laryngotracheoesophageal cleft type 0 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 + X-linked spasticity-intellectual disability-epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 + Septopreoptic holoprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172 + Eyebrow duplication-syndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 + Methylmalonic aciduria due to transcobalamin receptor defect + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 280282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 + Pelizaeus-Merzbacher-like disease due to GJC2 mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 + Pelizaeus-Merzbacher-like disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 + Null syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 + Spondyloenchondrodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 280224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 + Pelizaeus-Merzbacher disease, transitional form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797 + Autosomal dominant spondylocostal dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 + Pelizaeus-Merzbacher disease in female carriers + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 276580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 + Autosomal dominant hyperinsulinism due to Kir6.2 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 + Cenani-Lenz syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 + Autosomal dominant hyperinsulinism due to SUR1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 276598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 + Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262 + Dobrow syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585 + Diazoxide-resistant hyperinsulinism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 276608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608 + Non-insulinoma pancreatogenous hypoglycemia syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265 + Isolated humero-radial synostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 + Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266 + Isolated humero-radio-ulnar synostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621 + Sporadic pheochromocytoma/secreting paraganglioma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268 + Radioulnar synostosis-microcephaly-scoliosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 + Symptomatic form of Coffin-Lowry syndrome in female carriers + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 + Radioulnar synostosis-developmental delay-hypotonia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 + Spondylocarpotarsal synostosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 + Apolipoprotein A-I deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 + Teebi-Shaltout syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 + Telecanthus-hypertelorism-strabismus-pes cavus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 + Tel Hashomer camptodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 279882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279882 + Spasmus nutans + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 3294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294 + Extensor tendons of finger anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 279888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279888 + Acute endophthalmitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 279891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279891 + Chronic endophthalmitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 279894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279894 + Toxic maculopathy due to antimalarial drugs + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 3301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 + Tetraamelia-multiple malformations syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 279897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897 + Primary oculocerebral lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 279911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911 + Primary organ-specific lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304 + Fallot complex-intellectual disability-growth delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 + Thalidomide embryopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 279914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279914 + Intermediate uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 279919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279919 + Infectious posterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 276198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 + Spinocerebellar ataxia type 36 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225 + Hearing loss-familial salivary gland insensitivity to aldosterone syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 276193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 + Spinocerebellar ataxia type 35 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 276183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 + Spinocerebellar ataxia type 32 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 + Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276174 + Idiopathic recurrent stupor + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 276238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 + Machado-Joseph disease type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 276234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234 + Non-syndromic male infertility due to sperm motility disorder + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 276223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 + Mucopolysaccharidosis type 6, slowly progressing + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 276212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 + Mucopolysaccharidosis type 6, rapidly progressing + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 + Deafness-oligodontia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 + Deafness-onychodystrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 + Machado-Joseph disease type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 276241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 + Machado-Joseph disease type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235 + Progressive deafness with stapes fixation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236 + Conductive deafness-ptosis-skeletal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232 + Deafness-ear malformation-facial palsy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233 + Cochleosaccular degeneration-cataract syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241 + Deafness-craniofacial syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 + Hemihyperplasia-multiple lipomatosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399 + Familial multinodular goiter + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239 + Deafness-vitiligo-achalasia syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 3238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238 + Cardiospondylocarpofacial syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 + Multiple synostoses syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 + Symphalangism with multiple anomalies of hands and feet + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413 + 10q22.3q23.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242 + Renpenning syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 + Hyperbiliverdinemia + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 3250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 + Proximal symphalangism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248 + Isolated distal symphalangism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422 + 10q22.3q23.3 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276429 + Hypnic headache + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 276525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276525 + Familial hyperinsulinism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 + Filippi syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 + Hyperinsulinism due to UCP2 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 276432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 + Ogden syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 + Cleft lip/palate-ectodermal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 276435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 + Lower motor neuron syndrome with late-adult onset + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 + Combined immunodeficiency due to ZAP70 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3325 + Classic heparin-induced thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 + Mitochondrial trifunctional protein deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 + Malonic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 + Autosomal recessive methemoglobinemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2089 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 + Glycogen storage disease due to hepatic glycogen synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 + Dysbetalipoproteinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 + Severe hereditary thrombophilia due to congenital protein S deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 + Familial hyperthyroidism due to mutations in TSH receptor + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325 + Congenital factor II deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 + Hyperimmunoglobulinemia D with periodic fever + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 + Immunodeficiency by defective expression of MHC class II + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324 + Familial thrombomodulin anomalies + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 + Herpes simplex virus encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 + Systemic primary carnitine deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 202948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948 + Syndromic microphthalmia-anophthalmia-coloboma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 202940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202940 + Anomaly of puberty or/and menstrual cycle of genetic origin + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 2056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 + Essential fructosuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 206436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 + Infantile Krabbe disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820 + Sneddon syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 206428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 + Hypoxanthine-guanine phosphoribosyltransferase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 + Self-limited epilepsy with centrotemporal spikes + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 + Succinyl-CoA:3-oxoacid CoA transferase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 6 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 + 3-methylcrotonyl-CoA carboxylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 20 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 + 3-hydroxy-3-methylglutaric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 + Hemolytic anemia due to diphosphoglycerate mutase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 + Hemolytic anemia due to glucophosphate isomerase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831 + Rhizomelic dysplasia, Patterson-Lowry type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 + Arachnodactyly-abnormal ossification-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 + Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 + Cataract-deafness-hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538 + Malignant non-dysgerminomatous germ cell tumor of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 206554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 + Fukutin-related limb-girdle muscular dystrophy R13 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524 + Craniomicromelic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 + Anoctamin-5-related limb-girdle muscular dystrophy R12 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 + Caudal appendage-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 + POMGNT1-related limb-girdle muscular dystrophy R15 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 + POMT2-related limb-girdle muscular dystrophy R14 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206572 + Overlap myositis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263 + Syngnathia-cleft palate syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206569 + Immune-mediated necrotizing myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 + Autosomal recessive lower motor neuron disease with childhood onset + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206575 + Rippling muscle disease with myasthenia gravis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 + Late-infantile/juvenile Krabbe disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439 + Von Voss-Cherstvoy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 + Adult Krabbe disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 206470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206470 + Cystadenoma of childhood + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217 + Spinal atrophy-ophthalmoplegia-pyramidal syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2680 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680 + Hypomyelination neuropathy-arthrogryposis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484 + Gonadoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681 + Diprosopus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206489 + Malignant germ cell tumor of the vagina + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 206492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206492 + Vulvovaginal rhabdomyosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 + Müllerian derivatives-lymphangiectasia-polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206701 + Bulbospinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633 + Laron syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 206662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206662 + Inclusion myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 + Kallmann syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 206710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206710 + Generalized bulbospinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206707 + Bulbospinal muscular atrophy of adult + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822 + Hereditary spherocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 + Xeroderma pigmentosum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 206704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206704 + Bulbospinal muscular atrophy of childhood + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229 + Familial aortic dissection + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 206966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206966 + Mitochondrial myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206959 + Muscular glycogenosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 + X-linked non-syndromic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206953 + Muscular lipidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 + Hemolytic anemia due to red cell pyruvate kinase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 206976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206976 + Periodic paralysis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 28 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 + Vitamin B12-responsive methylmalonic acidemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 206973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206973 + Congenital myotonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206970 + Myotonic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206594 + Subacute inflammatory demyelinating polyneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599 + Isolated asymptomatic elevation of creatine phosphokinase + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 + Stüve-Wiedemann syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 206583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 + Adult polyglucosan body disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 206586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206586 + Neurolymphomatosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206613 + Infectious disease with peripheral neuropathy + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 206638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206638 + Acquired skeletal muscle disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 65 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 + Leber congenital amaurosis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 206644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206644 + Progressive muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206634 + Genetic skeletal muscle disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 + Multiple osteochondromas + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 206653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206653 + Autosomal recessive distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206656 + Non-dystrophic myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647 + Myotonic dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 + Lynch syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 206650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206650 + Autosomal dominant distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 + Bardet-Biedl syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207085 + Qualitative or quantitative defects of dystrophin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207090 + Qualitative or quantitative defects of collagen 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 + Atypical Rett syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207094 + Laminin subunit alpha 2-related muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 + Kallmann syndrome-heart disease syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207098 + Qualitative or quantitative defects of integrin alpha-7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207067 + Qualitative or quantitative defects of gamma-sarcoglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 + Arachnodactyly-intellectual disability-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207070 + Qualitative or quantitative defects of delta-sarcoglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207073 + Qualitative or quantitative defects of dysferlin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207078 + Qualitative or quantitative defects of caveolin-3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 + White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207049 + Qualitative or quantitative protein defects in neuromuscular diseases + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207052 + Qualitative or quantitative defects of sarcoglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207060 + Qualitative or quantitative defects of alpha-sarcoglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207063 + Qualitative or quantitative defects of beta-sarcoglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207038 + Acute and subacute inflammatory demyelinating polyneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 + Fryns-Smeets-Thiry syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 + Microgastria-limb reduction defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 + Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 207046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207046 + Malignant lymphoma with peripheral neuropathy + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 207021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207021 + Rare hereditary systemic disease with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 + Progressive non-infectious anterior vertebral fusion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207018 + Rare hereditary metabolic disease with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 + Cleft palate-short stature-vertebral anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207028 + Cerebellar ataxia with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 + Macrocephaly-short stature-paraplegia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207025 + Rare hereditary neurologic disease with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 + X-linked intellectual disability-plagiocephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207015 + Rare hereditary disease with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207012 + Spinal muscular atrophy associated with central nervous system anomaly + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 206997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206997 + Parasitic myositis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 206994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206994 + Bacterial myositis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349 + Muscular pseudohypertrophy-hypothyroidism syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 207000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207000 + Fungal myositis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 1423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423 + Lethal recessive chondrodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 206982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206982 + Muscular tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 + Hydrocephalus-obesity-hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 206991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206991 + Viral myositis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 206988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206988 + Infectious, fungal or parasitic myopathy + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 209007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209007 + Systemic inflammatory disease associated with an acquired peripheral neuropathy + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 209010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209010 + Peripheral neuropathy associated with monoclonal gammopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 + Aplasia cutis congenita + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 208999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208999 + Paraneoplastic sensory ganglionopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209004 + Polyneuropathy associated with IgM monoclonal gammopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 208989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208989 + Non-paraneoplastic sensory ganglionopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 208984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208984 + Acquired sensory ganglionopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 208974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208974 + Chronic acquired demyelinating polyneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101 + Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 208978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208978 + Chronic polyradiculoneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184 + Hydrocephaly-low insertion umbilicus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 208650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 + NLRP3-associated autoinflammatory disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1779 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779 + Dysmorphism-cleft palate-loose skin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 + Aymé-Gripp syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 208593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208593 + Genetic hypoparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 208596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208596 + Genetic hyperparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 208513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 + Spinocerebellar ataxia type 29 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 208524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208524 + Herpetiform pemphigus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485 + Arthrogryposis-hyperkeratosis syndrome, lethal form + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 208508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 + Autosomal dominant cerebellar ataxia type II + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 208447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 + Bilateral generalized polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 + Nicolaides-Baraitser syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 208444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 + Bilateral frontal polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 208441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 + Bilateral parasagittal parieto-occipital polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 + Isolated arrhinia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 + Familial caudal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 207122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207122 + Qualitative or quantitative defects of fukutin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204 + Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 207119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207119 + Qualitative or quantitative defects of FKRP + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207113 + Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 + Progeroid syndrome, Petty type + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 207110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207110 + Qualitative or quantitative defects of myotubularin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207107 + Qualitative or quantitative defects of TRIM32 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619 + Brachydactylous dwarfism, Mseleni type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 207104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207104 + Qualitative or quantitative defects of calpain + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 207101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207101 + Qualitative or quantitative defects of perlecan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 + Craniosynostosis, Boston type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 + Hardikar syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 + Hirschsprung disease-ganglioneuroblastoma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335 + Autosomal dominant adult-onset proximal spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 + DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209185 + Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209188 + Qualitative or quantitative defects of emerin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167 + Siegler-Brewer-Carey syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 209193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209193 + Qualitative or quantitative defects of selenoprotein N1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209196 + Qualitative or quantitative defects of plectin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209199 + Qualitative or quantitative defects of protein SERCA1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209203 + Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209224 + Myotilinopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209044 + Qualitative or quantitative defects of alphaB-cristallin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277 + Brachydactyly-mesomelia-intellectual disability-heart defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209041 + Qualitative or quantitative defects of desmin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547 + Microphthalmia-microtia-fetal akinesia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209050 + Qualitative or quantitative defects of protein ZASP + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209047 + Qualitative or quantitative defects of filamin C + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209056 + Qualitative or quantitative defects of telethonin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209053 + Qualitative or quantitative defects of titin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209182 + Qualitative or quantitative defects of nebulin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778 + Facial dysmorphism-shawl scrotum-joint laxity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209059 + Qualitative or quantitative defects of alpha-actin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074 + Intellectual disability-short stature-hypertelorism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209016 + Hematological disease associated with an acquired peripheral neuropathy + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 209013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209013 + Acquired amyloid peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209024 + Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759 + Thoraco-abdominal enteric duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209019 + Solid tumor associated with an acquired peripheral neuropathy + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 209030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209030 + Qualitative or quantitative defects of protein O-mannosyltransferase 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209027 + Qualitative or quantitative defects of protein glycosyltransferase-like + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209038 + Qualitative or quantitative defects of myofibrillar proteins + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209033 + Qualitative or quantitative defects of protein O-mannosyltransferase 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 210110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 + Intermediate osteopetrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405 + Umbilical cord ulceration-intestinal atresia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 210115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 + Sterile multifocal osteomyelitis with periostitis and pustulosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 1884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 + Ectopia lentis-chorioretinal dystrophy-myopia syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 209981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 + IRIDA syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1459 + Celiac disease-epilepsy-cerebral calcification syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 210133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133 + Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 210136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136 + Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2582 + Myalgia-eosinophilia syndrome associated with tryptophan + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 210122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 + Congenital alveolar capillary dysplasia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 210128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 + Urocanic aciduria + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2254 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 + Pontocerebellar hypoplasia type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209959 + Phacoanaphylactic uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 209964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209964 + Solitary rectal ulcer syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 209951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 + Autosomal spastic paraplegia type 18 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956 + Idiopathic uveal effusion syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 209973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973 + Benign nocturnal alternating hemiplegia of childhood + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209978 + Alternating hemiplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 + Episodic ataxia type 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970 + Episodic ataxia type 7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2795 + Fowler urethral sphincter dysfunction syndrome + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 209908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 + Isolated childhood apraxia of speech + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 + Brain-lung-thyroid syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 + Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666 + Adult familial nephronophthisis-spastic quadriparesia syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 209943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943 + IRVAN syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 209932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932 + Cone dystrophy with supernormal rod response + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 209919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209919 + Idiopathic copper-associated cirrhosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 209916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209916 + Extraskeletal myxoid chondrosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 + Microcephaly-seizures-intellectual disability-heart disease syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 209370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 + MECP2-related severe neonatal encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 209867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867 + Autosomal dominant rhegmatogenous retinal detachment + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 210571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 + Dystonia 16 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 + Catecholaminergic polymorphic ventricular tachycardia + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 210272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210272 + Mal de débarquement + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 210548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 + Macrocephaly-intellectual disability-autism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 210159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159 + Adult hepatocellular carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283 + His bundle tachycardia + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 210163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 + Congenital lethal myopathy, Compton-North type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 + Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 210141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141 + Inherited congenital spastic tetraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 210144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144 + Lethal polymalformative syndrome, Boissel type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1546 + Cryptococcosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 67 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67 + Amoebiasis due to Entamoeba histolytica + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 210584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584 + Spindle cell hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023 + Undifferentiated pleomorphic sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 210589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210589 + Rare infantile hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 + Primary hyperoxaluria + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 210576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210576 + Congenital temporomandibular joint ankylosis + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 210581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210581 + Temporomandibular joint anomaly + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599 + Distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3392 + Tularemia + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 211240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211240 + Genetic vascular anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 + Tufted angioma + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 211237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211237 + Rare vascular tumor + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 2737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2737 + Onchocerciasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 211067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067 + Episodic ataxia type 5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3343 + Toxocariasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 211062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211062 + Hereditary episodic ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 211053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211053 + Specific language disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2034 + Filariasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 211047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211047 + Specific learning disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2583 + Mycetoma + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 211037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211037 + Autosomal dominant proximal spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1685 + Distomatosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 211017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 + Spinocerebellar ataxia type 30 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1902 + Ehrlichiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 + Hereditary steroid-resistant nephrotic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 211277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211277 + Complex vascular malformation with associated anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 211266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211266 + Fast-flow vascular malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655 + Nephronophthisis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 211255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211255 + Slow-flow malformation, lymphatic type + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 211252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211252 + Slow-flow malformation, venous type + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 2415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2415 + Isolated rare lymphatic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 211247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211247 + Rare capillary malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122 + Kaposiform hemangioendothelioma + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 211243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211243 + Simple vascular malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 + Infantile myofibromatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 35 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 + Propionic acidemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 + Glycine encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968 + Leukocyte adhesion deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 + Mitochondrial DNA-related progressive external ophthalmoplegia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137 + Congenital disorder of glycosylation + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 + Denys-Drash syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 5 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 + Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 85 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85 + Congenital dyserythropoietic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 25 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 + Glutaryl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 + Rhizomelic chondrodysplasia punctata + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246 + Brachydactyly-nystagmus-cerebellar ataxia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 + Familial melanoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=359 + Pediatric-onset glaucoma of genetic origin + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 + Familial partial epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 213500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213500 + Rare ovarian cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364 + Glycogen storage disease due to lactate dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 + Smith-Lemli-Opitz syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213512 + Malignant mixed Müllerian tumor of the ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504 + Adenocarcinoma of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 + Cartilage-hair hypoplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 + Cutis laxa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 42 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 + Medium chain acyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 213564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213564 + Rare uterine cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213557 + Salivary gland type cancer of the breast + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213569 + Rare cancer of corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 + Gamma-aminobutyric acid transaminase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 + Bifunctional enzyme deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 213531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531 + Metaplastic carcinoma of the breast + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528 + Rare adenocarcinoma of the breast + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 + Congenital pulmonary veins atresia or stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213605 + Carcinofibroma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213610 + Carcinosarcoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3161 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161 + Congenital pulmonary sequestration + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213589 + Malignant mixed epithelial and mesenchymal tumor of corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213600 + Adenosarcoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860 + Congenitally uncorrected transposition of the great arteries + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213625 + Leiomyosarcoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 + Scimitar syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213630 + Primitive neuroectodermal tumor of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 + Subpulmonary stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213615 + Rhabdomyosarcoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213620 + Sarcoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 + Congenital pulmonary valvar stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213721 + Undifferentiated carcinoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464 + Univentricular heart + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213726 + Serous carcinoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 + Aorto-ventricular tunnel + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213711 + Endometrial stromal sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213716 + Squamous cell carcinoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213746 + Transitional cell carcinoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213731 + High-grade neuroendocrine carcinoma of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 + Autoimmune lymphoproliferative syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 213736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213736 + Low-grade neuroendocrine tumor of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 + Perlman syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213772 + Adenocarcinoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213767 + Squamous cell carcinoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213761 + Rare cancer of cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213751 + Malignant germ cell tumor of the corpus uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213792 + Adenosarcoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213787 + Carcinosarcoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213782 + Malignant mixed epithelial and mesenchymal tumor of cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777 + High-grade neuroendocrine carcinoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213812 + Primitive neuroectodermal tumor of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747 + Autoimmune pulmonary alveolar proteinosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 213807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807 + Leiomyosarcoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213802 + Rhabdomyosarcoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 + Musculocontractural Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 213797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213797 + Sarcoma of cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213833 + Glassy cell carcinoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213828 + Adenoid basal carcinoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 213823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213823 + Adenoid cystic carcinoma of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082 + Intellectual disability-polydactyly-uncombable hair syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 + Axenfeld-Rieger syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 + Isolated radio-ulnar synostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 213837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213837 + Malignant germ cell tumor of the cervix uteri + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259 + Syndactyly-polydactyly-ear lobe syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 + Tetrasomy 5p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675 + Transposition of the great arteries + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379 + Distal duplication 17q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694 + Congenitally corrected transposition of the great arteries + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 + Isolated congenitally uncorrected transposition of the great arteries + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 + Congenitally uncorrected transposition of the great arteries with cardiac malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 + Double uterus-hemivagina-renal agenesis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 + Tyrosinemia type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 216796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 + Osteogenesis imperfecta type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903 + Von Willebrand disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 216804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 + Osteogenesis imperfecta type 2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 216812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 + Osteogenesis imperfecta type 3 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 216820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 + Osteogenesis imperfecta type 4 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 216828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 + Osteogenesis imperfecta type 5 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 3474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 + CHIME syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 + Classic pantothenate kinase-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 216873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 + Atypical pantothenate kinase-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 216972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 + Niemann-Pick disease type C, severe perinatal form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441 + Ring chromosome 17 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 + Niemann-Pick disease type C, late infantile neurologic onset + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 + Familial glucocorticoid deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 216975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 + Niemann-Pick disease type C, severe early infantile neurologic onset + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 216986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 + Niemann-Pick disease type C, adult neurologic onset + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787 + Acrofacial dysostosis, Palagonia type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 216981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 + Niemann-Pick disease type C, juvenile neurologic onset + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 217008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008 + Segmental venous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 + Zechi-Ceide syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 + Spinocerebellar ataxia type 31 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 + Fanconi-Bickel syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 217026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 + Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 + BNAR syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179 + Birdshot chorioretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 217260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217260 + Progressive multifocal leukoencephalopathy + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292 + Congenital enterovirus infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 217253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217253 + NMDA receptor encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767 + Polyarteritis nodosa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 + Classic mycosis fungoides + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 217093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 + Mucopolysaccharidosis type 2, attenuated form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 + Sézary syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 217085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 + Mucopolysaccharidosis type 2, severe form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 217080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217080 + Pulmonary fungal infections in patients deemed at risk + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 217074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217074 + Rare carcinoma of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330 + Kasabach-Merritt phenomenon + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 217071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071 + Renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 217067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217067 + Pouchitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 2700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2700 + Noma + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 217064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217064 + 5-fluorouracil poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 1451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 + CINCA syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 217059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 + Isolated nail clubbing + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type A + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556 + Malakoplakia + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 217335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 + RIN2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 + Opitz GBBB syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 + 17q21.31 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260 + Idiopathic hypereosinophilic syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 217330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 + REN-related autosomal dominant tubulointerstitial kidney disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 2086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086 + Optic pathway glioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2566 + Chronic Epstein-Barr virus infection syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 3385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3385 + African trypanosomiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 1560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1560 + Cysticercosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 + Congenital microcoria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=341 + Viral hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=340 + Hemorrhagic fever-renal syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2552 + Microsporidiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 1171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 + Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1463 + Triatrial heart + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560 + Neuroendocrine cell hyperplasia of infancy + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 217557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557 + Pulmonary interstitial glycogenosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686 + Cardiac diverticulum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 + Chronic respiratory distress with surfactant metabolism deficiency + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 217563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 + Neonatal acute respiratory distress syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 217407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 + Hereditary hypotrichosis with recurrent skin vesicles + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 + Middle aortic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 + Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 217454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454 + Rare hereditary thrombophilia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 + Coarctation of aorta + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 + Combined immunodeficiency due to DOCK8 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 1132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 + Aortic arch defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 + 17p13.3 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1138 + Abnormal origin of the pulmonary artery + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1207 + Pulmonary atresia with ventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217399 + Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 217396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 + Progressive polyneuropathy with bilateral striatal necrosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 + Pulmonary valve agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 + Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 217346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 + 19q13.11 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 + Absence of the pulmonary artery + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 + Neurodegenerative syndrome due to cerebral folate transport deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 + Aneurysm of sinus of Valsalva + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1081 + Coronary artery congenital malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 + Microduplication Xp11.22p11.23 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091 + Congenital systemic veins anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613 + Mitochondrial disease with dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 217616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616 + Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 217619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619 + Syndrome associated with dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 3093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 + Congenital aortic valve stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 + Sensorineural deafness with dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 3092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 + Fixed subaortic stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217604 + Dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 + Aortic arch interruption + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427 + Double outlet left ventricle + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217607 + Familial dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 217610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610 + Neuromuscular disease with dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 3426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426 + Double outlet right ventricle + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439 + Isolated right ventricular hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587 + Mitochondrial disease with hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 217591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591 + Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422 + Idiopathic/heritable pulmonary arterial hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 217595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595 + Syndrome associated with hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2447 + Congenital mitral malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217598 + Non-familial hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 + Pulmonary arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217569 + Rare hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2037 + Congenital aortopulmonary window + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572 + Glycogen storage disease with hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041 + Coronary arterial fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 217581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581 + Lysosomal disease with hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 + Frontotemporal dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 217720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217720 + Non-familial restrictive cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331 + Congenital factor XIII deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 + Carnitine-acylcarnitine translocase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542 + Primary cutaneous lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707 + Plague + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 217638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638 + Lysosomal disease with restrictive cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335 + Congenital fibrinogen deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 217635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217635 + Familial restrictive cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 217632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217632 + Restrictive cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 217629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217629 + Non-familial dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 217678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217678 + Unclassified cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 79 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 + Congenital alpha2-antiplasmin deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 217656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 + Inherited isolated arrhythmogenic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 1070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1070 + Anisakiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 1467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467 + Cogan syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 2157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 + Histidinemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 + Limited cutaneous systemic sclerosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 + Saccharopinuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 + Limited systemic sclerosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 220386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 + Semilobar holoprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 + Hyperlysinemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 + Diffuse cutaneous systemic sclerosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 + Congenital intrinsic factor deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 220448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448 + Macrothrombocytopenia with mitral valve insufficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967 + Transcobalamin I deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220452 + Isolated hereditary giant platelet disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 220436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436 + Quebec platelet disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 + Dicarboxylic aminoaciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443 + Bleeding diathesis due to thromboxane synthesis deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 218436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218436 + Rare cardiac rhythm disease + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 218439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218439 + Non-genetic cardiac rhythm disease + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 2170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 + Methylcobalamin deficiency type cblG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 + Xeroderma pigmentosum-Cockayne syndrome complex + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 + Gyrate atrophy of choroid and retina + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 + Homocystinuria without methylmalonic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 + Hyperammonemia due to N-acetylglutamate synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402 + Transient tyrosinemia of the newborn + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 + Phosphoenolpyruvate carboxykinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 + D-glyceric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 + Laron syndrome with immunodeficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 220460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 + Attenuated familial adenomatous polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 220489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 + Rare hereditary hemochromatosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 19 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 + 2-hydroxyglutaric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 + Pentosuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 + Joubert syndrome with renal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 + Cystathioninuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 220493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 + Joubert syndrome with ocular defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 + Lysinuric protein intolerance + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 221074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221074 + Marchiafava-Bignami disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 221078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221078 + Combined hyperactive dysfunction syndrome of the cranial nerves + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145 + Hereditary breast and/or ovarian cancer syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965 + Prolactinoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 221083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221083 + Hemifacial spasm + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 221091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221091 + Trigeminal neuralgia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538 + Lymphangioleiomyomatosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 221098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221098 + Glossopharyngeal neuralgia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2942 + Postpoliomyelitis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 + Pterin-4 alpha-carbinolamine dehydratase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 221109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221109 + Cranial neuralgia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 221114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221114 + Acquired peripheral movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 + Isolated succinate-CoQ reductase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 221008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 + Rothmund-Thomson syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 24 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 + Fumaric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 221016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 + Rothmund-Thomson syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 + Fatal infantile cytochrome C oxidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 221039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039 + Hereditary sclerosing poikiloderma, Weary type + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 + Isolated complex III deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 + Paris-Trousseau thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 221043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 + Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 221046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 + Poikiloderma with neutropenia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 + Severe hereditary thrombophilia due to congenital protein C deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 221054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054 + Acrocephalopolydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 221061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 + Familial cerebral cavernous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 + Glanzmann thrombasthenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 225154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 + Familial infantile bilateral striatal necrosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 225123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 + TFR2-related hemochromatosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 225147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 + Sporadic infantile bilateral striatal necrosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 222628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222628 + Hereditary poikiloderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 223713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713 + Mitochondrial oxidative phosphorylation disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 223735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223735 + Lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 223727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223727 + Bone sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 221117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221117 + Gerstmann syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 221120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120 + Pseudoaminopterin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 221126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 + Fowler vasculopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 221139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 + Combined immunodeficiency with facio-oculo-skeletal anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 221142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221142 + Confetti-like macular atrophy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 221145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 + Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 228003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 + Severe combined immunodeficiency due to CORO1A deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 3398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3398 + Thymic epithelial neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 228000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000 + Idiopathic CD4 lymphocytopenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547 + Non-Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 227990 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227990 + Autoimmune polyendocrinopathy type 4 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842 + Testicular seminomatous germ cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 227982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982 + Autoimmune polyendocrinopathy type 3 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 227976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 + Autosomal recessive optic atrophy, OPA7 type + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 876 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=876 + Yolk sac tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 227972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227972 + Toxic oil syndrome + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 883 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=883 + Extragonadal teratoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 227796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796 + Fundus albipunctatus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 228123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228123 + Coccidioidomycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 228119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228119 + Fusariosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 228116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228116 + Hughes-Stovin syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 228113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228113 + Anal fistula + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 3399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3399 + Germ cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 + Langerhans cell histiocytosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 228012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 + Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616 + Medulloblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=301 + Ependymal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 + Primary cutaneous CD30+ T-cell lymphoproliferative disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543 + Burkitt lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319 + Skeletal Ewing sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 227535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535 + Hereditary breast cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668 + Osteosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 227510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 + Multiple system atrophy, cerebellar type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94 + Astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=360 + Glioblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 226292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292 + Permanent congenital hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513 + Acute lymphoblastic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1957 + Esthesioneuroblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 226298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298 + Central congenital hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 2030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030 + Fibrosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2126 + Solitary fibrous tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 226295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295 + Primary congenital hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 + Pseudoxanthoma elasticum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 + Hyperprolinemia type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501 + Adrenocortical carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 226316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316 + Genetic transient congenital hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 226307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307 + Hypothyroidism due to deficient transcription factors involved in pituitary development or function + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 3148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148 + Malignant peripheral nerve sheath tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 3273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3273 + Synovial sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 226313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313 + Congenital hypothyroidism due to maternal intake of antithyroid drugs + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391 + Classic Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 2260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 + Oligomeganephronia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 225689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225689 + Amino acid or protein metabolism disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 225692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225692 + Metal transport or utilization disorder with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 + Larsen syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 1652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 + Dent disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 225696 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225696 + Energy metabolism disorder with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 225700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225700 + Mitochondrial disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542 + Isolated microphthalmia-anophthalmia-coloboma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 3280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280 + Syringomyelia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478 + Megalencephalic leukoencephalopathy with subcortical cysts + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 225681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225681 + Lysosomal disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 225686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225686 + Peroxisomal disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 3337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 + Primary Fanconi renotubular syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223 + Arginine vasopressin resistance + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 225703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225703 + Mitochondrial disease with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 225707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225707 + Metabolic neurotransmission anomaly with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 225710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225710 + Sterol metabolism disorder with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757 + Pseudohypoaldosteronism type 2 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 225713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225713 + Other metabolic disease with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423 + GATA2 deficiency spectrum + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 521 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521 + Chronic myeloid leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 228415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415 + 5q35 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 + Hereditary butyrylcholinesterase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 + Autosomal recessive cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 229717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717 + Non-syndromic agammaglobulinemia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 229720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229720 + Syndromic agammaglobulinemia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 228426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 + Syndromic multisystem autoimmune disease due to Itch deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 + Isolated Klippel-Feil syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 + Familial pancreatic carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 228429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 + Congenital generalized lipodystrophy type 4 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 228396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 + Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 228387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 + Spondylo-megaepiphyseal-metaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 228390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 + Frontonasal dysplasia-alopecia-genital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 228410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 + Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 228399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399 + 8q12 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 2781 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 + Osteopetrosis and related disorders + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 228402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 + 2q23.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 228366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 + CLN7 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 + CLN6 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 + CLN5 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 + 5q14.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 228379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228379 + Virus-associated trichodysplasia spinulosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228374 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374 + Charcot-Marie-Tooth disease type 2B5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371 + Foodborne botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 228337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 + CLN10 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 + CLN1 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 + CLN8 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 + CLN2 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 + CLN3 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 + CLN4 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290 + White fibrous papulosis of the neck + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293 + Pseudoxanthoma elasticum-like papillary dermal elastolysis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299 + Mid-dermal elastolysis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 + Carnitine palmitoyl transferase II deficiency, myopathic form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 228305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 + Carnitine palmitoyl transferase II deficiency, severe infantile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 228308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 + Carnitine palmitoyl transferase II deficiency, neonatal form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 228312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228312 + Autoimmune hemolytic anemia, cold type + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 228240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240 + Elastoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 + CACH syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228243 + Elastofibroma dorsi + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228247 + Acquired pseudoxanthoma elasticum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228254 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228254 + Elastoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228264 + Papular elastorrhexis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228272 + Primary anetoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277 + Familial anetoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228285 + Acquired cutis laxa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 + Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203 + Overhydrated hereditary stomatocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 3202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202 + Dehydrated hereditary stomatocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 228218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228218 + Acquired dermis elastic tissue disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228215 + Genetic dermis elastic tissue disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228224 + Acquired dermis elastic tissue disorder with increased elastic tissue + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228221 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228221 + Acquired dermis elastic tissue disorder with decreased elastic tissue + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1544 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1544 + Benign focal seizures of adolescence + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228236 + Linear focal elastosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228227 + Late-onset focal dermal elastosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 228145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228145 + Multiple sclerosis variant + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 + Idiopathic ventricular fibrillation + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 1018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 + X-linked Alport syndrome-diffuse leiomyomatosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 228165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228165 + Baló concentric sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 + Self-limited infantile epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228157 + Marburg acute multiple sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 + Congenital factor X deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 228174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 + Autosomal dominant Charcot-Marie-Tooth disease type 2N + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 228169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 + Autosomal dominant striatal neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 + Hemoglobin C disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 + Hemoglobin E disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 228184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184 + Heart-hand syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 228179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 + Autosomal dominant Charcot-Marie-Tooth disease type 2M + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288 + Hereditary elliptocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 231531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 + Hermansky-Pudlak syndrome due to BLOC-1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 231512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 + Hermansky-Pudlak syndrome due to BLOC-2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 1320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1320 + Idiopathic camptocormia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256 + Early-onset generalized limb-onset dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 + Hermansky-Pudlak syndrome due to BLOC-3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441 + Pure autonomic failure + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231457 + Acute pandysautonomia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231466 + Acute sensory ataxic neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 + Infantile bilateral striatal necrosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231445 + Paraparetic variant of Guillain-Barré syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231450 + Acute pure sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2073 + Narcolepsy type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231426 + Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231416 + Regional variant of Guillain-Barré syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231419 + Functional variant of Guillain-Barré syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 + Alpha-thalassemia-myelodysplastic syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 231413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231413 + Variant of Guillain-Barré syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866 + Focal, segmental or multifocal dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2611 + Linear verrucous nevus syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 231393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 + Beta-thalassemia-X-linked thrombocytopenia syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809 + Mixed connective tissue disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 231386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386 + Syndromic beta-thalassemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 + Medullary sponge kidney + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 + Hemoglobin E-beta-thalassemia syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 231242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 + Hemoglobin C-beta-thalassemia syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 2197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197 + Idiopathic hypercalciuria + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 231237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 + Delta-beta-thalassemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 231230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230 + Beta-thalassemia associated with another hemoglobin anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 231226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 + Unstable beta globin chain variant disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 18 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 + Distal renal tubular acidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 231222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 + Beta-thalassemia intermedia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160 + Castleman disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 231214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 + Beta-thalassemia major + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 231205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231205 + Common variable immunodeficiency without known genetic defect + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841 + Hailey-Hailey disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 231183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 + Usher syndrome type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 + Frasier syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 231178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 + Usher syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 + Chronic diarrhea with villous atrophy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 2596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 + Myopathy and diabetes mellitus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154 + Combined immunodeficiency due to partial RAG1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966 + Properdin deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 231160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160 + Familial cerebral saccular aneurysm + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 + Usher syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 + Silver-Russell syndrome due to 7p11.2p13 microduplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 + Silver-Russell syndrome due to an imprinting defect of 11p15 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 + Silver-Russell syndrome due to 11p15 microduplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 + Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 + Beckwith-Wiedemann syndrome due to CDKN1C mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 + Beckwith-Wiedemann syndrome due to 11p15 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 + Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 231080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231080 + High-grade dysplasia in patients with Barrett esophagus + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 + Familial hypocalciuric hypercalcemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108 + Rhabdoid tumor predisposition syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 231111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111 + Drug-induced lupus erythematosus + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 231117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 + Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1223 + Balantidiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 231040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 + Familial generalized lentiginosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318 + Essential thrombocythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 230857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 + Ehlers-Danlos/osteogenesis imperfecta syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 230851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 + Cardiac-valvular Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 231031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031 + Erythema palmare hereditarium + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 + Zollinger-Ellison syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013 + Congenital trigeminal anesthesia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 230800 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800 + Toxin-mediated infectious botulism + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 82 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 + Hereditary thrombophilia due to congenital antithrombin deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 230839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 + Classical-like Ehlers-Danlos syndrome type 1 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519 + Acute myeloid leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 233655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233655 + Rare genetic vascular disease + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 235832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235832 + Congenital vascular bone syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 235936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936 + Familial hyperaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 238305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238305 + Infundibulo-neurohypophysitis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 238269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 + AApoAII amyloidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 238446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446 + 15q11q13 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 238329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 + Severe X-linked mitochondrial encephalomyopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 231573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231573 + Congenital erosive and vesicular dermatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 231580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231580 + Primary unilateral adrenal hyperplasia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 + Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 231568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 + Autosomal dominant generalized dystrophic epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 231632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231632 + Ectopic aldosterone-producing tumor + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231637 + Rare surgically correctable form of primary aldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231625 + Adrenocortical carcinoma with pure aldosterone hypersecretion + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1900 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 + Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 231671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 + Isolated growth hormone deficiency type IB + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 + Vascular Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 231679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 + Isolated growth hormone deficiency type II + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231641 + Rare non surgically correctable form of primary aldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 + Hypermobile Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 231662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662 + Isolated growth hormone deficiency type IA + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736 + Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 231742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742 + Epibulbar lipodermoid-preauricular appendage-polythelia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 + Epidermolysis bullosa simplex with muscular dystrophy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 1901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 + Dermatosparaxis Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 231692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692 + Isolated growth hormone deficiency type III + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 231720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 + Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 + Arthrochalasia Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 + Congenital nephrotic syndrome, Finnish type + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 232035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232035 + Infectious embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 + Miller-Dieker syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3394 + Soft tissue sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 1084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 + Isolated lissencephaly type 1 without known genetic defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 232288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288 + Syndrome with alpha-thalassemia as a major feature + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 + Microlissencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 + X-linked lissencephaly with abnormal genitalia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 238750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750 + 4q21 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 238763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 + Glaucoma secondary to spherophakia/ectopia lentis and megalocornea + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 238696 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238696 + Transient congenital hypothyroidism due to maternal factor + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 238699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238699 + Transient congenital hypothyroidism due to neonatal factor + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 238722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 + Familial congenital mirror movements + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 238744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 + Mammary-digital-nail syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 238769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769 + 1q44 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 238517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 + Hypotonia-cystinuria type 1 syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 238505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 + Combined immunodeficiency due to CD27 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 238468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 + Hypohidrotic ectodermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 238475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 + Familial hypercholanemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 238455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 + Infantile dystonia-parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 238459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 + SLC35A1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 238578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 + Familial clubfoot due to 17q23.1q23.2 microduplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 238583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 + Hyperphenylalaninemia due to tetrahydrobiopterin deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 238557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557 + Chuvash erythrocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 238569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 + Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 238547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547 + Acquired secondary polycythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 238523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 + Atypical hypotonia-cystinuria syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 238536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536 + Congenital secondary polycythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 238637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637 + Megacystis-megaureter syndrome + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 238624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238624 + Idiopathic intracranial hypertension + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 238621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238621 + Ileal pouch anal anastomosis related faecal incontinence + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 238606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238606 + Primary orthostatic tremor + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 238593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238593 + IgG4-related mesenteritis + + + + 165711 + Rare abdominal surgical disease + + + + Preferential parent + + + + + + 238688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688 + Neonatal iodine exposure + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 238670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 + Isolated thyrotropin-releasing hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 238666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 + Isolated congenital hypogonadotropic hypogonadism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 238654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 + Congenital primary megaureter, nonrefluxing and unobstructed form + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 238650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 + Congenital primary megaureter, refluxing form + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 238646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 + Congenital primary megaureter, obstructed form + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 238642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 + Primary megaureter, adult-onset form + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 240371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371 + Syndromic obesity + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 240071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 + Classic progressive supranuclear palsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 240112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 + Progressive supranuclear palsy-progressive non-fluent aphasia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 240103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 + Progressive supranuclear palsy-corticobasal syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 240094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 + Progressive supranuclear palsy-pure akinesia with gait freezing syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 240085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 + Progressive supranuclear palsy-predominant parkinsonism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 240760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 + Nijmegen breakage syndrome-like disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 331226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331226 + Susceptibility to infection due to TYK2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331223 + Hyper-IgE syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331235 + Selective IgM deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331232 + Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331240 + Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249 + Primary hemophagocytic lymphohistiocytosis with hypopigmentation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 + Severe congenital neutropenia due to G6PC3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331184 + Syndrome with congenital neutropenia as a major feature + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331187 + Immunodeficiency due to MASP-2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331190 + Immunodeficiency due to ficolin3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331193 + Other immunodeficiency syndromes due to defects in innate immunity + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206 + Severe combined immunodeficiency due to complete RAG1/2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331217 + Syndrome with combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 331220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331220 + Syndome with combined immunodeficiency due to thymic defect + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 330206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330206 + Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 330064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330064 + Chronic actinic dermatitis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 330001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001 + Wild type ATTR amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 329977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977 + Classic neuroendocrine tumor of appendix + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 329984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984 + Goblet cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 330012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330012 + High altitude pulmonary edema + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 330015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330015 + Lead poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 330032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 + Hemoglobin Lepore-beta-thalassemia syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 330041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041 + Hemoglobin M disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 330021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330021 + Mercury poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 330029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 + Hypotrichosis-deafness syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 330058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058 + Hydroa vacciniforme + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 330061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061 + Actinic prurigo + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 330050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 + DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 330054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 + Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813 + Mosaic genome-wide paternal uniparental disomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 + 5p13 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329883 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883 + Non-hypoproteinemic hypertrophic gastropathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 329874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329874 + Idiopathic giant cell myocarditis + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 329475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475 + Spastic paraplegia-Paget disease of bone syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 + Lipoprotein glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 329478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478 + Adult-onset distal myopathy due to VCP mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942 + Transient neonatal multiple acyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 329931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931 + C3 glomerulonephritis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 329971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 + Generalized juvenile polyposis/juvenile polyposis coli + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 329967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329967 + Intermittent hydrarthrosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 329894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329894 + Juvenile overlap myositis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329888 + Juvenile idiopathic inflammatory myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918 + C3 glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 329903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903 + Immunoglobulin-mediated membranoproliferative glomerulonephritis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 329308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 + Fatty acid hydroxylase-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 + Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 329319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 + Thrombocythemia with distal limb defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 + Beta-propeller protein-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 + PLA2G6-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457 + Distal arthrogryposis type 5D + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466 + Autosomal dominant focal dystonia, DYT25 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469 + Acute megakaryoblastic leukemia in children without Down syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 329329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 + Autosomal recessive frontotemporal pachygyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 + Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 + Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 329228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 + Microcephalic primordial dwarfism due to ZNF335 deficiency + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 329224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 + Schuurs-Hoeijmakers syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217 + Cerebral sinovenous thrombosis + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 329211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 + Autosomal dominant neovascular inflammatory vitreoretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 329195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195 + Developmental delay with autism spectrum disorder and gait instability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 + Tall stature-long halluces-multiple extra-epiphyses syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 + Congenital muscular dystrophy with intellectual disability and severe epilepsy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 329258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258 + Autosomal dominant Charcot-Marie-Tooth disease type 2Q + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 329249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249 + Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 329242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 + Congenital chronic diarrhea with protein-losing enteropathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 329235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235 + X-linked central congenital hypothyroidism with late-onset testicular enlargement + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 329173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329173 + Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 325697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325697 + Genetic 46,XX difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325690 + Genetic difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325713 + Genetic 46,XY difference of sex development of endocrine origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325706 + Genetic 46,XY difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325638 + Syndrome with difference of sex development of gynecological interest + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325665 + Genetic difference of sex development of gynecological interest + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325620 + Difference of sex development of gynecological interest + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325632 + 46,XY difference of sex development of gynecological interest + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 + Congenital factor XI deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 1243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 + Best vitelliform macular dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 325511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511 + 46,XY difference of sex development due to a cholesterol synthesis defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 + Classic congenital lipoid adrenal hyperplasia due to STAR deficency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357 + 46,XY difference of sex development due to impaired androgen production + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 + Leydig cell hypoplasia due to LHB deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546 + Sex chromosome difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 + Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325537 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537 + 46,XY difference of sex development induced by maternal exposure to endocrine disruptors + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 + Testicular agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118 + 46,XY disorder of gonadal development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325351 + 46,XY difference of sex development of endocrine origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 + 46,XY ovotesticular difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055 + 46,XX disorder of gonadal development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109 + Syndrome with 46,XX difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325099 + 46,XX difference of sex development induced by exogenous maternal-derived androgen + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325093 + 46,XX difference of sex development induced by endogenous maternal-derived androgen + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 325061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061 + 46,XX difference of sex development induced by fetoplacental androgens excess + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324960 + Unexplained periodic fever syndrome of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964 + Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324972 + MAGIC syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 + Proteasome-associated autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324939 + Periodic fever syndrome of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324942 + Pyogenic autoinflammatory syndrome of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324950 + Granulomatous autoinflammatory syndrome of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324953 + Unclassified autoinflammatory syndrome of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324927 + Pyogenic autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324930 + Granulomatous autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324933 + Mixed autoinflammatory and autoimmune syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324936 + Unclassified autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 + Trichorhinophalangeal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 + Microcephalic primordial dwarfism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324924 + Hereditary periodic fever syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 324767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324767 + Non-familial rare disease with dilated cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 324718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 + ABetaA21G amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 + ABeta amyloidosis, Italian type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 + SRD5A3-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 324723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 + ABeta amyloidosis, Arctic type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324648 + Invasive non-typhoidal salmonellosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 324636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324636 + Autoerythrocyte sensitization syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 324708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 + ABeta amyloidosis, Iowa type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 + ABetaL34V amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 + Classic multiminicore myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632 + Hendra virus infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 324625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625 + Chikungunya + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 324588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588 + Familial dyskinesia and facial myokymia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 + X-linked cleft palate and ankyloglossia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 + Benign Samaritan congenital myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585 + Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 + Pontocerebellar hypoplasia type 8 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 + Hyperinsulinism due to HNF1A deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 324540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540 + Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561 + Hypopigmentation-punctate palmoplantar keratoderma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 324530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324530 + Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 324535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 + Combined oxidative phosphorylation defect type 11 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 324525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 + Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 324442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442 + Autosomal recessive axonal neuropathy with neuromyotonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416 + Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 + ALG13-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 324410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 + X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324381 + Hereditary inclusion body myopathy type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364 + Mixed sclerosing bone dystrophy with extra-skeletal manifestations + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 324353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353 + Congenital achiasma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 324321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 + Sinoatrial node dysfunction and deafness + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 324313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 + 9p13 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 324307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307 + Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 324299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 + Multiple paragangliomas associated with polycythemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 324294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 + T-cell immunodeficiency with epidermodysplasia verruciformis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 324290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 + PRDM8-related progressive myoclonus epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 322126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322126 + Genetic tumor of hematopoietic and lymphoid tissues + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 324262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 + Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 319719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319719 + Autoinflammatory syndrome of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 320332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320332 + X-linked pure spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320335 + Pure or complex hereditary spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320342 + Pure or complex autosomal dominant spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320346 + Pure or complex autosomal recessive spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320350 + Pure or complex X-linked spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360 + MT-ATP6-related mitochondrial spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355 + Autosomal dominant spastic paraplegia type 41 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370 + Autosomal recessive spastic paraplegia type 43 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365 + Autosomal dominant spastic paraplegia type 36 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 + Autosomal recessive spastic paraplegia type 54 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 + Autosomal recessive spastic paraplegia type 55 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 + Autosomal recessive spastic paraplegia type 46 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 + Hereditary sensory and autonomic neuropathy due to TECPR2 mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401 + Autosomal recessive spastic paraplegia type 44 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 + Autosomal recessive spastic paraplegia type 45 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 + Autosomal recessive spastic paraplegia type 56 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 320406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 + Spastic paraplegia-optic atrophy-neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 319543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319543 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319547 + Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319535 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319539 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319539 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 + Combined oxidative phosphorylation defect type 14 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 319524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 + Combined oxidative phosphorylation defect type 15 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 319509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 + Combined oxidative phosphorylation defect type 9 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 319514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 + Combined oxidative phosphorylation defect type 13 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 319589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319589 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319595 + Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319574 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319581 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319563 + Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319569 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319552 + Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319558 + Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 + Constitutional megaloblastic anemia with severe neurologic disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 319646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 + PGM1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 319640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640 + Retinal macular dystrophy type 2 + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 319635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635 + Amyloidosis cutis dyschromia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 319605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319605 + X-linked mendelian susceptibility to mycobacterial diseases + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319600 + Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 319678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 + Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 319675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 + Microcephalic primordial dwarfism, Dauber type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 319671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 + Alazami syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 319667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667 + Primary lymphoma of the conjunctiva + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 319254 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319254 + Kyasanur forest disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319266 + Omsk hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276 + Clear cell renal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319239 + Brazilian hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319244 + Chapare hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319247 + Hantavirus pulmonary syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319251 + Rift valley fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319 + Renal medullary carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322 + Mucinous tubular and spindle cell renal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325 + Tubulocystic renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287 + Multilocular cystic renal neoplasm of low malignant potential + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298 + Papillary renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303 + Chromophobe renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308 + MiT family translocation renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 + Autosomal recessive myogenic arthrogryposis multiplex congenita + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 319328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319328 + Inherited renal cancer-predisposing syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 319340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 + Carney complex-trismus-pseudocamptodactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 319487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487 + Familial papillary or follicular thyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 + Acute myeloid leukemia with CEBPA somatic mutations + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 + Combined oxidative phosphorylation defect type 8 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 319494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319494 + Familial nonmedullary thyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 + Inherited acute myeloid leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462 + Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 319205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319205 + Bilateral massive adrenal hemorrhage + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 319213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319213 + Lujo hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 + Chondroectodermal dysplasia with night blindness + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 319199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 + Autosomal recessive spastic paraplegia type 53 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 319229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319229 + Bolivian hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319234 + Venezuelan hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319218 + Ebola hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319223 + Argentine hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 319160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 + Congenital myopathy with internal nuclei and atypical cores + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 319171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171 + Distal 17p13.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 319189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189 + Familial cortical myoclonus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 319192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 + Diencephalic-mesencephalic junction dysplasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 319182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 + Wiedemann-Steiner syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 317419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317419 + T-B- severe combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 317416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317416 + T-B+ severe combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 317428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428 + Combined immunodeficiency due to ORAI1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 317425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425 + Severe combined immunodeficiency due to DNA-PKcs deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 317430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430 + Combined immunodeficiency due to STIM1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 317473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317473 + Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 317476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 + XMEN + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 315350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315350 + Autoimmune disease with skin involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 315311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 315306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993 + Cataract-congenital heart disease-neural tube defect syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978 + X-linked non progressive cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970 + Lymphocytic hypereosinophilic syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 314962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962 + Secondary hypereosinophilic syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 314950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 + Primary hypereosinophilic syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 314918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 + Mild Canavan disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 + Severe Canavan disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 316244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316244 + Partial deletion of the short arm of chromosome 12 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 316235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316235 + Autosomal dominant spastic ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 316240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316240 + Autosomal recessive spastic ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 316226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316226 + Spastic ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 + Primary systemic amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 314697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697 + Acquired porencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 + Primary localized amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 314679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 + Cerebrofacioarticular syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 + TMEM165-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 314689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689 + Combined immunodeficiency due to STK4 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 314684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684 + Primary bone lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314652 + Variant ABeta2M amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 314647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 + Non-progressive cerebellar ataxia with intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662 + Segmental progressive overgrowth syndrome with fibroadipose hyperplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 + Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 + CLN11 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621 + Duplication of the pituitary gland + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 + Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 314632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 + CLN12 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802 + Short stature due to partial GHR deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811 + Short stature due to GHSR deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314822 + Primary renal tubular acidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 314889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314889 + Autosomal dominant proximal renal tubular acidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 314777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777 + Familial isolated pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786 + Silent pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790 + Null pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 + SHOX-related short stature + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 314753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314753 + Functioning pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314759 + Mixed functioning pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314769 + Somatomammotropinoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 314718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 + Lethal arteriopathy syndrome due to fibulin-4 deficiency + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 314721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721 + Atypical dentin dysplasia due to SMOC2 deficiency + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 314749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314749 + Rare disease with adrenal Cushing syndrome as a major feature + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 370127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127 + Medich giant platelet syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 370109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370109 + Ataxia-telangiectasia variant + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370106 + Rare disorder with dystonia and other neurologic or systemic manifestation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103 + Primary dystonia, DYT17 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 + Oculocutaneous albinism type 6 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 370091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 + Oculocutaneous albinism type 5 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 370396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396 + Small cell carcinoma of the ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 370348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348 + Peripheral primitive neuroectodermal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 370334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334 + Extraskeletal Ewing sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 370131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131 + White platelet syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 370046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046 + Didymosis aplasticosebacea + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 370034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 + Familial syringomyelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 370039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039 + Angora hair nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 370022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 + Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370026 + Acute myeloid leukemia with t(8;16)(p11;p13) translocation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 370015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 + Spondyloepimetaphyseal dysplasia, Isidor-Toutain type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 370088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088 + Acute infantile liver failure-multisystemic involvement syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 370076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076 + Fetal carbamazepine syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 370079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079 + Proximal 16p11.2 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 370068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370068 + Fetal anticonvulsant syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 370052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052 + SCALP syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 370059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370059 + NEVADA syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 371047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371047 + Congenital disorder of glycosylation with neurological involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371071 + Congenital disorder of glycosylation with epilepsy as a major feature + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371007 + Congenital muscular dystrophy with hyperlaxity + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 + Muscle-eye-brain disease with bilateral multicystic leucodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 371040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371040 + Primary qualitative or quantitative defects of alpha-dystroglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 371024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371024 + Qualitative or quantitative defects of alpha-dystroglycan + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 371183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371183 + Congenital disorder of glycosylation with cardiac malformation as a major feature + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371176 + Congenital disorder of glycosylation with dilated cardiomyopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371195 + Congenital disorder of glycosylation-related bone disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371188 + Congenital disorder of glycosylation with intestinal involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371157 + Congenital disorder of glycosylation with hepatic involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 370921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 + STT3A-CDG + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 + STT3B-CDG + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 + SSR4-CDG + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 + XYLT1-CDG + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 370953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370953 + Congenital muscular dystrophy due to dystroglycanopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 + Congenital muscular dystrophy with cerebellar involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 + Congenital muscular dystrophy with intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 + Congenital muscular dystrophy without intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 370933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 + GM3 synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 370943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 + Autism spectrum disorder-epilepsy-arthrogryposis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 365563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365563 + Primary short bowel syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 369929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929 + Primary hyperaldosteronism-seizures-neurological abnormalities syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 + Pontocerebellar hypoplasia type 9 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 369942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 + CADDS + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 + Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 + Methylmalonic acidemia with homocystinuria, type cblJ + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 369950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 + Intellectual disability-seizures-macrocephaly-obesity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 369970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970 + Microcornea-myopic chorioretinal atrophy-telecanthus syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 369962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 + Methylmalonic acidemia with homocystinuria, type cblX + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 369979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979 + Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 369992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992 + Severe dermatitis-multiple allergies-metabolic wasting syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 370002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002 + Focal palmoplantar keratoderma with joint keratoses + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 369999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999 + Diffuse palmoplantar keratoderma with painful fissures + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 370010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010 + Intellectual disability-facial dysmorphism-hand anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 369837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 + Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840 + TRAPPC11-related limb-girdle muscular dystrophy R18 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 + Intellectual disability-hyperkinetic movement-truncal ataxia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852 + Congenital neutropenia-myelofibrosis-nephromegaly syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 369861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 + Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 369867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type C + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 369873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873 + Obesity due to SIM1 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 369881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881 + 2p21 microdeletion syndrome without cystinuria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 369886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369886 + Homozygous 2p21 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 369891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 + Developmental delay-facial dysmorphism syndrome due to MED13L deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 369897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 369913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 + Combined oxidative phosphorylation defect type 17 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 364063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 + Infantile epileptic-dyskinetic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 364055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055 + Severe early-childhood-onset retinal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 364039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039 + Hydroa vacciniforme-like lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 364043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043 + ALK-positive large B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 364028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028 + X-linked intellectual disability due to GRIA3 mutations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 364033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364033 + Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 + Infantile Refsum disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 1194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 + TMEM70-related mitochondrial encephalo-cardio-myopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 363999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999 + Non-immune hydrops fetalis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 + Isolated anencephaly/exencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 364013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013 + Immune hydrops fetalis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989 + Familial benign flecked retina + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823 + Spina bifida and other spinal dysraphisms + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 + Ichthyosis-short stature-brachydactyly-microspherophakia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976 + Giant cell tumor of bone + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981 + Charcot-Marie-Tooth disease type 4B3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969 + Autosomal recessive cerebral atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 + Noonan syndrome-like disorder with juvenile myelomonocytic leukemia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 + Koolen-De Vries syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 + 17q21.31 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746 + Balint syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 + Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 + X-linked dyserythropoietic anemia with abnormal platelets and neutropenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 363722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 + Alexander disease type II + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 + Alexander disease type I + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 + Spinocerebellar ataxia type 37 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363705 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 + Craniofaciofrontodigital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 + Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 + Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 363686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 + Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363680 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680 + 2p13.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 + Childhood-onset autosomal recessive myopathy with external ophthalmoplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 364803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364803 + Rare bone disease related to a common gene or pathway defect + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 364820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364820 + TRPV4-related bone disorder + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 364574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364574 + Acrofacial dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 364571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364571 + Dysostosis with limb and face anomalies as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 364577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 + Intellectual disability-brachydactyly-Pierre Robin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 364559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364559 + Dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 364541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541 + Otopalatodigital syndrome spectrum disorder + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 364568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364568 + Dysostosis with limb anomaly as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 364526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364526 + Primary bone dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 364536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364536 + Primary bone dysplasia with micromelia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 364531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364531 + Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 364198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198 + Bipartite talus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 + Temtamy preaxial brachydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409 + Fetal akinesia-cerebral and retinal hemorrhage syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412 + Hypomyelination with brain stem and spinal cord involvement and leg spasticity + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 + Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 + Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 + Multiple mitochondrial dysfunctions syndrome type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363314 + Genetic intestinal polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 363300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363300 + Genetic intractable diarrhea of infancy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 363306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363306 + Genetic intestinal disease due to fat malabsorption + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 363396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 + High myopia-sensorineural deafness syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 363400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 + Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363250 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363250 + Ciliopathy + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 363294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363294 + Genetic syndromic Pierre Robin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363245 + Genetic progeroid syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363203 + Ring chromosome syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189 + Congenital anomaly of the great veins + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 + LMNA-related cardiocutaneous progeria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 + GMPPB-related limb-girdle muscular dystrophy R19 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 + Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 363654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654 + X-linked parkinsonism-spasticity syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363659 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659 + 20q11.2 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 + Acroosteolysis-keloid-like lesions-premature aging syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 363540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 + Leukoencephalopathy with mild cerebellar ataxia and white matter edema + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549 + Acute encephalopathy with biphasic seizures and late reduced diffusion + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558 + New-onset refractory status epilepticus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363567 + Acute encephalopathy with inflammation-mediated status epilepticus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363579 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363579 + Extragonadal germ cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363582 + Gonadal germ cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 + CTCF-related neurodevelopmental disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504 + Germ cell tumor of testis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494 + Non-seminomatous germ cell tumor of testis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 + Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 + Mitochondrial DNA depletion syndrome, hepatocerebrorenal form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 363528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 + Intellectual disability-strabismus syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 + THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 363454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454 + BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447 + Autosomal dominant childhood-onset proximal spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 363478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478 + Paratesticular adenocarcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363472 + Tumor of testis and paratestis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489 + Sex cord-stromal tumor of testis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 363483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483 + Testicular teratoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 357175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175 + Short ulna-dysmorphism-hypotonia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 357329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 + Combined immunodeficiency due to IL21R deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 357332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332 + Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 357220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357220 + Primary essential cutis verticis gyrata + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 357225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225 + Primary non-essential cutis verticis gyrata + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 357237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 + Combined immunodeficiency due to CARD11 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 357506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357506 + Genetic non-syndromic renal or urinary tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 357502 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357502 + Idiopathic nephrotic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 356978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 + D,L-2-hydroxyglutaric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 356961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 + SLC35A2-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 357008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 + Hemolytic uremic syndrome with DGKE deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 357001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001 + 19p13.13 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 356996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996 + ANK3-related intellectual disability-sleep disturbance syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 357043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 + Amyotrophic lateral sclerosis type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 357034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357034 + Non-hereditary retinoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 357027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 + Hereditary retinoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 357074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 + Autosomal recessive cutis laxa type 2, classic type + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 357064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 + Autosomal recessive cutis laxa type 2B + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 357058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 + Autosomal recessive cutis laxa type 2A + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 357158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 + Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 357154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357154 + Oral submucous fibrosis + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 357131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357131 + Venous thoracic outlet syndrome + + + + 97962 + Rare surgical thoracic disease + + + + Preferential parent + + + + + + 357107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357107 + Arterial thoracic outlet syndrome + + + + 97962 + Rare surgical thoracic disease + + + + Preferential parent + + + + + + 352654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 + Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 + Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 352657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352657 + Hereditary benign intraepithelial dyskeratosis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 352641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 + Autosomal recessive cerebellar ataxia with late-onset spasticity + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636 + Phalangeal microgeodic syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 352649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 + Brain dopamine-serotonin vesicular transport disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596 + Progressive myoclonic epilepsy with dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629 + 16q24.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 352577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 + Bainbridge-Ropers syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 352587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 + Focal epilepsy-intellectual disability-cerebro-cerebellar malformation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 + Familial infantile myoclonic epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352728 + Disorder of melanin metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 + Oculocutaneous albinism type 1 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 352734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 + Minimal pigment oculocutaneous albinism type 1 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 352737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 + Temperature-sensitive oculocutaneous albinism type 1 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 352709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 + CLN13 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 + Facial dysmorphism-immunodeficiency-livedo-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 352718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 + Progressive retinal dystrophy due to retinol transport defect + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 352723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 + Attenuated Chédiak-Higashi syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352687 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 + Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 352665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 352670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type F + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 + X-linked Charcot-Marie-Tooth disease type 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 + Cobblestone lissencephaly without muscular or ocular involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 353277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 + Rubinstein-Taybi syndrome due to CREBBP mutations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 353253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353253 + Burning mouth syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 353220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220 + Familial primary localized cutaneous amyloidosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 353217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 + Epileptic encephalopathy with global cerebral demyelination + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352763 + Scleredema + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 352745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 + Oculocutaneous albinism type 7 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 353356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353356 + Vasoproliferative tumor of the retina + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 353344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353344 + Idiopathic macular telangiectasia type 1 + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 353351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353351 + Idiopathic macular telangiectasia type 3 + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 353334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334 + Congenital retinal arteriovenous communication + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 353320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 + Pyruvate carboxylase deficiency, benign type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 353327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 + Congenital myasthenic syndrome with glycosylation defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 353308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 + Pyruvate carboxylase deficiency, infantile type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 353314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 + Pyruvate carboxylase deficiency, severe neonatal type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 353298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 + Roifman syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 353281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 + Rubinstein-Taybi syndrome due to 16p13.3 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 353284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 + Rubinstein-Taybi syndrome due to EP300 haploinsufficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 352301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352301 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 + Spectrin-associated autosomal recessive cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 + Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 352328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 + MEGDEL syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 + Progressive external ophthalmoplegia-myopathy-emaciation syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352312 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352309 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352306 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 + Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 352563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 + Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 352540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540 + Oncogenic osteomalacia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 352479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 + ISPD-related limb-girdle muscular dystrophy R20 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352456 + Mitochondrial DNA maintenance syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 352470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 + DNA2-related mitochondrial DNA deletion syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 352490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 + Autism spectrum disorder due to AUTS2 deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294951 + Congenital joint dislocations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949 + Non-syndromic joint formation defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 + Syndrome with limb reduction defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294953 + Non-syndromic limb overgrowth + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294947 + Congenital deformities of fingers + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294944 + Congenital deformities of limbs + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925 + Non-syndromic amelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927 + Non-syndromic intercalary limb defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 + Renal-hepatic-pancreatic dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422 + Chronic intestinal failure + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 294057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294057 + Rare nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 294060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294060 + Multiple pterygium syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987 + Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 294016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 + Microcephaly-capillary malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 + Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 294026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026 + Syndactyly-nystagmus syndrome due to 2q31.1 microduplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 + Hypoinsulinemic hypoglycemia and body hemihypertrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 293967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 + Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 + Deficiency in anterior pituitary function-variable immunodeficiency syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 293958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958 + Hypertelorism-preauricular sinus-punctual pits-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 + Childhood encephalopathy due to thiamine pyrophosphokinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 293948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 + 1p21.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939 + Distal Xq28 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936 + EDICT syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 293925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 + Lethal occipital encephalocele-skeletal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 + Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 293899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 + Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 293888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 + Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 293864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 + Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 + 3MC syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830 + Constitutional dyserythropoietic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 293822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822 + MITF-related melanoma and renal cell carcinoma predisposition syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 293825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 + Congenital dyserythropoietic anemia type IV + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 293812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293812 + Fixed drug eruption + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 293815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293815 + Toxic dermatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 293807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293807 + Ketamine-induced biliary dilatation + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 293725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 + Blepharophimosis-intellectual disability syndrome, Verloes type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 + Blepharophimosis-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 + Blepharophimosis-intellectual disability syndrome, MKB type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 + PYCR1-related De Barsy syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 295044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295044 + Macrodactyly of fingers + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295047 + Macrodactyly of toes + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295049 + Upper limb hypertrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295051 + Lower limb hypertrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022 + Congenital pseudoarthrosis of the fibula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024 + Congenital pseudoarthrosis of the radius + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026 + Congenital pseudoarthrosis of the ulna + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028 + Isolated tibio-fibular synostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295030 + True congenital shoulder dislocation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032 + Isolated congenital radial head dislocation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295034 + Congenital knee dislocation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036 + Congenital patella dislocation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012 + Syndactyly type 6 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020 + Congenital pseudoarthrosis of the femur + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018 + Congenital pseudoarthrosis of the tibia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295016 + Camptodactyly of fingers + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295014 + Familial isolated clinodactyly of fingers + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 + Central polydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002 + Isolated hyperphalangy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 + Amniotic band syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977 + Isolated absence of thigh and lower leg with foot present + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 + Isolated absence of both forearm and hand + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973 + Isolated humeral agenesis/hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975 + Isolated absence of upper arm and forearm with hand present + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986 + Isolated apodia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988 + Isolated hypoplasia of thumb + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981 + Isolated absence of both lower leg and foot + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983 + Isolated acheiria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 + Popliteal pterygium syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957 + Dysostosis with combined reduction defects of upper and lower limbs + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959 + Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969 + Isolated amelia of lower limb + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971 + Isolated tetra-amelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294965 + Lethal congenital contracture syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 294967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967 + Isolated amelia of upper limb + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 290842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290842 + Autoinflammatory syndrome with skin involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 290849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290849 + Rare head and neck tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 + Hypermethioninemia due to glycine N-methyltransferase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902 + 3-methylglutaconic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899 + Organic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866 + Disorder of proline metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 + Atypical glycine encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877 + Transient hyperammonemia of the newborn + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289869 + Disorder of ornithine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 290839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290839 + Autoinflammatory syndrome with immune deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 290836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290836 + Systemic disease with skin involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 289916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 + Vitamin B12-unresponsive methylmalonic acidemia type mut0 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289682 + Lymphoepithelial-like carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289685 + Myopericytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661 + Epstein-Barr virus-positive diffuse large B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666 + Plasmablastic lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289651 + Epstein-Barr Virus-associated carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289656 + Epstein-Barr Virus-associated mesenchymal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289638 + Epstein-Barr Virus-related tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289644 + Epstein-Barr virus-associated malignant lymphoproliferative disorder + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 + Neonatal glycine encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 + Infantile glycine encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 + Glutathione synthetase deficiency with 5-oxoprolinuria + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 289849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 + Glutathione synthetase deficiency without 5-oxoprolinuria + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 289832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832 + Disorder of lysine and hydroxylysine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841 + Disorder of glutamine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825 + Late-onset primary lymphedema without systemic or visceral involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829 + Disorder of tryptophan metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 + Multiple mitochondrial dysfunctions syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 + Mitochondrial membrane protein-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 + Dysmorphism-conductive hearing loss-heart defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548 + Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 289539 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539 + BAP1-related tumor predisposition syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289635 + Rare virus associated tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601 + Hereditary arterial and articular multiple calcification syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 289596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289596 + Juvenile nasopharyngeal angiofibroma + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 289586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 + Exfoliative ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 293355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355 + Methylmalonic acidemia without homocystinuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 293375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375 + Grayson-Wilbrandt corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 293381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381 + Epithelial recurrent erosion dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 293462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462 + Pre-Descemet corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 293603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603 + Congenital hereditary endothelial dystrophy type II + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 293621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621 + X-linked endothelial corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 + Shwachman-Diamond syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 293150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 + Familial clubfoot due to PITX1 point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 + Familial mitral valve prolapse + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 + Familial clubfoot due to 5q31 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 + Infantile-onset ascending hereditary spastic paralysis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 293165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 + Skin fragility-woolly hair-palmoplantar keratoderma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 + Autosomal dominant hypocalcemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 293181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 + Epilepsy of infancy with migrating focal seizures + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298 + Insulin-resistance syndrome type B + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 293173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293173 + Acute generalized exanthematous pustulosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207 + Familial primary hyperparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 293199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199 + Pleomorphic rhabdomyosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 + 46,XX testicular difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 293202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293202 + Epithelioid sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 293284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 + Tetrahydrobiopterin-responsive phenylketonuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 293208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293208 + Celiac artery compression syndrome + + + + 165711 + Rare abdominal surgical disease + + + + Preferential parent + + + + + + 2459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2459 + Mansonelliasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2404 + Loiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 + Pyruvate dehydrogenase E3 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 + Arachnoid cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829 + Adult-onset Still disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3096 + Reye syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929 + Rasmussen subacute encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 1183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183 + Opsoclonus-myoclonus syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2688 + Adult idiopathic neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 2686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 + Cyclic neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890 + Hepatic veno-occlusive disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176 + Non-rhizomelic chondrodysplasia punctata + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231 + Dracunculiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 2035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2035 + Lymphatic filariasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 80 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=80 + Antiphospholipid syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 285657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657 + Disorder of folate metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 284786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284786 + Qualitative or quantitative defects of troponin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284790 + Qualitative or quantitative defects of tropomyosin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804 + Ocular albinism + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 284448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284448 + CLIPPERS + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284454 + Acute zonal occult outer retinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 284460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284460 + Acute annular outer retinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 284414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 + Glycerol kinase deficiency, adult form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 284417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 + Phosphoserine aminotransferase deficiency, infantile/juvenile form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 + Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 284435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 + Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 285014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285014 + Rare disease with thoracic aortic aneurysm and aortic dissection + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 284993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284993 + Marfan syndrome and Marfan-related disorders + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 284973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 + Marfan syndrome type 2 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 284963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 + Marfan syndrome type 1 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 284984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984 + Aneurysm-osteoarthritis syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 284979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979 + Neonatal Marfan syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 284814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814 + Disorder of phenylalanine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 284811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811 + Syndromic oculocutaneous albinism + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 284818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818 + Disorder of tyrosine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289362 + Non-central nervous system-localized embryonal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 + Familial vesicoureteral reflux + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 289347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347 + Infective dermatitis associated with HTLV-1 + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 289356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356 + Primary non-gestational choriocarcinoma of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 289377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 + Early-onset myopathy with fatal cardiomyopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 + Myosclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 + Hypermethioninemia encephalopathy due to adenosine kinase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 + Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289326 + Tropical spastic paraparesis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 289307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 + Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 + Combined malonic and methylmalonic acidemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 289499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499 + Congenital cataract microcornea with corneal opacity + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 289494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494 + 4H leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 289522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 + Microtriplication 11q24.1 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 + 12q15q21 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465 + Isolated congenital adermatoglyphia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289390 + Primary Sjögren disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 289385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289385 + Malignancy diagnosed during pregnancy + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 289483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483 + Intellectual disability-alacrima-achalasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 289478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478 + PASH syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 289103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103 + Hypocalcemic rickets + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 289098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 + Disorders of vitamin D metabolism + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 289176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 + Autosomal recessive hypophosphatemic rickets + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 289157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 + Hypocalcemic vitamin D-dependent rickets + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 280926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280926 + Systemic diseases with anterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280921 + Idiopathic panuveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280917 + Idiopathic posterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280914 + Isolated idiopathic anterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280898 + Panuveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280892 + Posterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280886 + Anterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 281103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103 + Keratinopathic ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 + Autosomal recessive congenital ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 + Syndromic recessive X-linked ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085 + Inherited ichthyosis syndromic form + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082 + Inherited non-syndromic ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280933 + Systemic diseases with panuveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 280930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280930 + Systemic diseases with posterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 281210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210 + X-linked ichthyosis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281217 + Autosomal ichthyosis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 + Congenital reticular ichthyosiform erythroderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 + Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 + Annular epidermolytic ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 + Self-improving collodion baby + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 + Acral self-healing collodion baby + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281244 + Autosomal ichthyosis syndrome with other associated signs + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281238 + Autosomal ichthyosis syndrome with prominent neurologic signs + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281241 + Autosomal ichthyosis syndrome with fatal disease course + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 281222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281222 + Autosomal ichthyosis syndrome with prominent hair abnormalities + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 + Familial progressive hyper- and hypopigmentation + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 + Multiple congenital anomalies-hypotonia-seizures syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 + Low oxygen affinity gamma chain hemoglobin disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 280598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 + Hereditary sensorimotor neuropathy with hyperelastic skin + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 + Progressive myoclonic epilepsy type 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 + Megaconial congenital muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 280640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 + Occipital pachygyria and polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 + Autosomal recessive nail dysplasia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280779 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280779 + Cutaneous collagenous vasculopathy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785 + Bullous diffuse cutaneous mastocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794 + Pseudoxanthomatous diffuse cutaneous mastocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802 + Intralobar congenital pulmonary sequestration + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 + Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 + Severe intellectual disability and progressive spastic paraplegia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280774 + Generalized essential telangiectasia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 280840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840 + Congenital pulmonary airway malformation type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847 + Congenital pulmonary airway malformation type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854 + Congenital pulmonary airway malformation type 4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811 + Extralobar congenital pulmonary sequestration + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821 + Communicating congenital bronchopulmonary-foregut malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827 + Congenital pulmonary airway malformation type 0 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 280832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832 + Congenital pulmonary airway malformation type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 284149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 + Craniosynostosis-dental anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 284139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 + Larsen-like syndrome, B3GAT3 type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 284180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 + Xp22.13p22.2 duplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 284169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 + Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 284160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 + 8q21.11 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 284247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 + Familial retinal arterial macroaneurysm + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 284232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 + Autosomal dominant Charcot-Marie-Tooth disease type 2O + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284227 + TEMPI syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 284271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 + Autosomal recessive cerebellar ataxia-psychomotor delay syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284264 + IgG4-related disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 284324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 + Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 + Adult-onset autosomal recessive cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343 + DICER1 tumor-predisposition syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 284332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 + Infantile-onset autosomal recessive nonprogressive cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 + Pontocerebellar hypoplasia type 7 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 284385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284385 + Familial intrahepatic cholestasis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 284388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284388 + Reversible cerebral vasoconstriction syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 284362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284362 + Fetal lung interstitial tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 284411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 + Glycerol kinase deficiency, juvenile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 284395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284395 + Well-differentiated fetal adenocarcinoma of the lung + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 284400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400 + Small cell carcinoma of the bladder + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 282124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282124 + Partial deletion of chromosome 12 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 282196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282196 + Autoimmune polyendocrinopathy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 282166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 + Inherited Creutzfeldt-Jakob disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 309848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309848 + Disorder of magnesium transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309845 + Disorder of zinc metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309842 + Disorder of iron metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309839 + Disorder of copper metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 310050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310050 + Acquired immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 309854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 + Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309851 + Disorder of manganese transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309824 + Disorder of metabolite absorption and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819 + Disorder of pterin metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309816 + Disorder of bilirubin metabolism and excretion + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309813 + Disorder of porphyrin and heme metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309836 + Disorder of mineral absorption and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309833 + Disorder of other vitamins and cofactors metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309830 + Disorder of catecholamine synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309827 + Disorder of vitamin and non-protein cofactor absorption and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309568 + Defect in conserved oligomeric Golgi complex + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309778 + Defect in V-ATPase + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309515 + Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309526 + Disorder of multiple glycosylation + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 + Rhizomelic chondrodysplasia punctata type 3 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 309810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309810 + Disorder of peroxisomal alpha-, beta- and omega-oxidation + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 + Rhizomelic chondrodysplasia punctata type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 309796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 + Rhizomelic chondrodysplasia punctata type 2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 309447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309447 + Disorder of protein O-glycosylation + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309450 + Disorder of O-xylosylglycan synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309340 + Disorder of lysosomal-related organelles + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309347 + Disorder of protein N-glycosylation + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309469 + Disorder of O-mannosylglycan synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309505 + Disorder of fucoglycosan synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309458 + Disorder of O-N-acetylgalactosaminylglycan synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309463 + Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 314029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 + High bone mass osteogenesis imperfecta + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 314022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022 + Gastric adenocarcinoma and proximal polyposis of the stomach + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314017 + Idiopathic linear interstitial keratitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 314002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314002 + Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 313947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947 + 2q23.1 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 313936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936 + PENS syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 313920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920 + Epstein-Barr virus-associated gastric carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 313906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906 + Congenital pancreatic cyst + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 313892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 + Developmental and speech delay due to SOX5 deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 313884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 + 12p12.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 313855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 + FGFR2-related bent bone dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 313850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 + Infantile cerebellar-retinal degeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 313846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 + Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 313838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 + Coats plus syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 313800 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800 + Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 313808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 + Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 313781 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781 + 20p13 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 313795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 + Jawad syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 313772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 + Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 + Autosomal recessive spastic ataxia with leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 + Chudley-McCullough syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613 + Growing teratoma syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575 + Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572 + Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 + Distal triplication 15q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 + 15q overgrowth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 + Young adult-onset distal hereditary motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314566 + Primary progressive apraxia of speech + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 + Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314466 + Atypical Meigs syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459 + Pseudo-Meigs syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478 + Ovarian fibrothecoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473 + Ovarian fibroma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314422 + Ameloblastic carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314425 + Rare odontogenic tumor + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 314432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432 + Spigelian hernia-cryptorchidism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451 + Meigs syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 + Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 314399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 + Autosomal dominant aplasia and myelodysplasia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 314404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 + Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314419 + Ameloblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 314373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 + Chronic infantile diarrhea due to guanylate cyclase 2C overactivity + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 314376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 + Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 314381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381 + Hereditary sensory and autonomic neuropathy type 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389 + Xq12-q13.3 duplication syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 314034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034 + 7p22.1 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041 + Marfanoid habitus-inguinal hernia-advanced bone age syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 314051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 + Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306756 + Epilepsy and/or ataxia with myoclonus as a major feature + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306759 + Non progressive epilepsy and/or ataxia with myoclonus as a major feature + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306750 + Primary myoclonus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306753 + Rare disease with myoclonus as a major feature + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306768 + Rare paroxysmal movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306773 + Hyperekplexia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306765 + Motor stereotypies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 307055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307055 + Rare parkinsonian syndrome due to genetic neurodegenerative disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 307058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307058 + Miscellaneous movement disorder due to genetic neurodegenerative disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306776 + Sporadic hyperekplexia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 307052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307052 + Rare genetic parkinsonian disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 307067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307067 + Rare genetic disease with myoclonus as a major feature + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 307141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307141 + Diffuse palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307061 + Rare genetic tremor disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 307064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307064 + Rare genetic myoclonus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306682 + Manganese poisoning + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306679 + Rare parkinsonian syndrome due to intoxication + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306674 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 + Kufor-Rakeb syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306669 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306669 + Hemiparkinsonism-hemiatrophy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306708 + Frontotemporal neurodegeneration with movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306695 + Miscellaneous movement disorder due to neurodegenerative disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306692 + Cyanide-induced parkinsonism-dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306686 + Delayed encephalopathy due to carbon monoxide poisoning + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306727 + Postinfectious autoimmune disease with chorea + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306719 + Neurodegenerative disease with chorea + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306715 + Rare choreic movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306712 + Rare tremor disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306747 + Rare myoclonus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306741 + Hemidystonia-hemiatrophy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734 + Primary dystonia, DYT21 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306731 + Sydenham chorea + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 308166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308166 + Erythrokeratoderma variabilis progressiva + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 308380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 + Methylcobalamin deficiency type cblDv1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308407 + Disorder of beta and omega amino acid metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 + Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 + Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 307711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307711 + Disease with diffuse palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307148 + Isolated diffuse palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 + Curly hair-acral keratoderma-caries syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 307804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307804 + Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307773 + Autosomal dominant diffuse mutilating palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307846 + Isolated focal palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307837 + Focal palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 + Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 307871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307871 + Disease with focal palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307995 + Marginal papular palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 307967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307967 + Punctate palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 308023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308023 + Disease with punctate palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 308013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308013 + Focal acral hyperkeratosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 308041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308041 + Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 308031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308031 + Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 309001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309001 + Disorder of carbohydrate absorption and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309005 + Disorder of lipid metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308993 + Glycerol kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308998 + Disorder of glyoxylate metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 + Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 + Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 + Combined pancreatic lipase-colipase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309115 + Disorder of fatty acid oxidation and ketogenesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 + Pancreatic triacylglycerol lipase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 + Pancreatic colipase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 + Mevalonate kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 + Disorder of lipid absorption and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 + Familial lipoprotein lipase deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 309020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 + Familial apolipoprotein C-II deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 308487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 + Generalized galactose epimerase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 + Chordoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 308473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 + Erythrocyte galactose epimerase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308467 + Disorder of galactose metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 2637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 + Microcephalic osteodysplastic primordial dwarfism type II + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 308463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308463 + Disorder of fructose metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592 + Macrophagic myofasciitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 308459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308459 + Disorder of glycolysis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308451 + Disorder of neutral amino acid transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308448 + Aminoacylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 + Vitamin B12-responsive methylmalonic acidemia, type cblDv2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 + Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 + Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 + Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 + Glycogen storage disease due to acid maltase deficiency, infantile onset + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 308520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308520 + Glycogen storage disease due to glycogen synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 + Metachromatic leukodystrophy, adult form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 309279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309279 + Glycoproteinosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 + Alpha-mannosidosis, infantile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 + Alpha-mannosidosis, adult form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 + GM2 gangliosidosis, AB variant + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252 + Atypical Gaucher disease due to saposin C deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 + Metachromatic leukodystrophy, late infantile form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 309263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 + Metachromatic leukodystrophy, juvenile form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 309324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 + Free sialic acid storage disease, infantile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 + Intermediate severe Salla disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 + Salla disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309337 + Lysosomal glycogen storage disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 + Sialidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 + Mucopolysaccharidosis type 4A + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 + Mucopolysaccharidosis type 4B + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309319 + Disorder of sialic acid metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309136 + Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 + Hyper-beta-alaninemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144 + Gangliosidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309127 + 3-hydroxyacyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309120 + Acyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309133 + Metabolic disease due to other fatty acid oxidation disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309130 + Disorder of carnitine cycle and carnitine transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 + Tay-Sachs disease, juvenile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 + Tay-Sachs disease, infantile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 + Tay-Sachs disease, adult form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 + Sandhoff disease, infantile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 + GM2 gangliosidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 + Sandhoff disease, adult form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 309162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 + Sandhoff disease, juvenile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 300547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 + Autosomal recessive infantile hypercalcemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 300552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552 + Follicular cholangitis and pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 300557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557 + Carcinoma of the ampulla of Vater + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564 + Combined pulmonary fibrosis-emphysema syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 300570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 + Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 300573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 + Polymicrogyria due to TUBB2B mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 300579 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300579 + Staphylococcal toxemia + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 300496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 + Multiple congenital anomalies-hypotonia-seizures syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 300501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501 + Painful orbital and systemic neurofibromas-marfanoid habitus syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504 + Onychocytic matricoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512 + Onychomatricoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300515 + Rare nail tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 + Pseudohypoaldosteronism type 2D + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 300530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 + Pseudohypoaldosteronism type 2E + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 300536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 + DDOST-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 300849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300849 + Diffuse large B-cell lymphoma of the central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846 + Aggressive B-cell non-Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 + Primary cutaneous anaplastic large cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857 + T-cell/histiocyte rich large B cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878 + Hairy cell leukemia variant + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869 + Splenic diffuse red pulp small B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895 + ALK-positive anaplastic large cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888 + Diffuse large B-cell lymphoma with chronic inflammation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 + Juvenile amyotrophic lateral sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 300755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300755 + Laminopathy with striated muscle involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 300751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 + Familial dilated cardiomyopathy with conduction defect due to LMNA mutation + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 300763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300763 + Laminopathy with lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 300758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300758 + Laminopathy with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 300842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842 + Indolent B-cell non-Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300766 + Laminopathy with premature aging + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 300903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903 + ALK-negative anaplastic large cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912 + Marginal zone lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 304055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304055 + Pituitary tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 306431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306431 + Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 306550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 + FADD-related immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 306553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306553 + Myospherulosis + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 306542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 + Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 306547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 + Porencephaly-microcephaly-bilateral congenital cataract syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 + Congenital hereditary facial paralysis-variable hearing loss syndrome + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 306527 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 + Isolated hereditary congenital facial paralysis + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 306516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516 + Primary hypomagnesemia with hypercalciuria and nephrocalcinosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 306511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 + Autosomal recessive spastic paraplegia type 48 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 + PTEN hamartoma tumor syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 306504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 + Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 306666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306666 + Rare parkinsonian syndrome due to neurodegenerative disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 + Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 306658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 + Familial normophosphatemic tumoral calcinosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 306648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306648 + Non-infectious anterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 306644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306644 + Complication after organ transplantation + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 306640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306640 + Rare intoxication due to medical products + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 306636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306636 + Rare tumor of liver and intrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 306633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306633 + Rare tumor of gallbladder and extrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 306617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 + X-linked complicated spastic paraplegia type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 306577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577 + Hereditary sodium channelopathy-related small fibers neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 306558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 + Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 295187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187 + Zygodactyly type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193 + Zygodactyly type 4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 + Synpolydactyly type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189 + Zygodactyly type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 + Zygodactyly type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201 + Congenital vertical talus, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203 + Congenital vertical talus, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 + Synpolydactyly type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199 + Synpolydactyly type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295232 + Congenital genu flexum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295229 + Congenital genu recurvatum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295227 + Congenital elbow dislocation, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295225 + Congenital elbow dislocation, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295241 + Macrodactyly of fingers, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 + Macrodactyly of fingers, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295245 + Macrodactyly of toes, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 295243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 + Macrodactyly of toes, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 298644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644 + Disorder of thiamine metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 300179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 + Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 300319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 + Charcot-Marie-Tooth disease type 2P + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 300324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324 + Persistent polyclonal B-cell lymphocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 300313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 + Congenital cataract-hearing loss-severe developmental delay syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 300298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 + Severe congenital hypochromic anemia with ringed sideroblasts + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 300305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 + 11p15.4 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 300284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 + Connective tissue disorder due to lysyl hydroxylase-3 deficiency + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 300293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 + Transient infantile hypertriglyceridemia and hepatosteatosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 300385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300385 + Pituitary carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 300493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493 + Sagliker syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 300373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373 + X-linked acrogigantism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 300382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382 + Progeroid and marfanoid aspect-lipodystrophy syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 300345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345 + Autosomal systemic lupus erythematosus + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 300359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 + PLCG2-associated antibody deficiency and immune dysregulation + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 300333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 + Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 464724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724 + Fever-associated acute infantile liver failure syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 464738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 + Basel-Vanagaite-Smirin-Yosef syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 464760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760 + Familial cavitary optic disc anomaly + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 464756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756 + Familial gastric type 1 neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 464764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464764 + Immune-mediated acquired neuromuscular junction disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 465508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 + Symptomatic form of HFE-related hemochromatosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 464282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 + Spastic paraplegia-severe developmental delay-epilepsy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 464288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 + Short stature-brachydactyly-obesity-global developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 464306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306 + DYRK1A-related intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 464329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329 + Kaposiform lymphangiomatosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 464321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321 + Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 464318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318 + Verrucous hemangioma + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 464311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 + Intellectual disability syndrome due to a DYRK1A point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 464366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 + NEK9-related lethal skeletal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 464359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464359 + Benign metanephric tumor + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 464343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464343 + Catastrophic antiphospholipid syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 464336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336 + BENTA disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 464453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464453 + Acquired methemoglobinemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 464443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 + COG6-CGD + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 464440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440 + Primary dystonia, DYT27 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 464370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464370 + Neonatal alloimmune neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 464458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464458 + Paracetamol poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 + Lymphedema with yellow nails + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 537 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537 + Toxic epidermal necrolysis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793 + SAPHO syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 456298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 + 1p35.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 456328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 + X-linked myotubular myopathy-abnormal genitalia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 456333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 + Hereditary neuroendocrine tumor of small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 456312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 + Infantile multisystem neurologic-endocrine-pancreatic disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 456318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 + Hereditary sensory neuropathy-deafness-dementia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 454840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 + NTHL1-related polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 454831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454831 + Acute radiation syndrome + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 454836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454836 + Avian influenza + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 454887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 + Corticobasal syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 454742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454742 + Variably protease-sensitive prionopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 454723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723 + Endometrioid carcinoma of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 454718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454718 + Holmes-Adie syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 454714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714 + Plasma cell leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 454750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 + Isolated tracheoesophageal fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 454745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 + Kuru + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 453533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 + Polyendocrine-polyneuropathy syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 453521 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 + Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 454710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710 + Anti-p200 pemphigoid + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 454706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454706 + Progressive muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 454700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700 + Acquired Creutzfeldt-Jakob disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 451602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602 + Primary cutaneous plasmacytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 451607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607 + Cutaneous pseudolymphoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 451612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 + Familial congenital nasolacrimal duct obstruction + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 453499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 453504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 453510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 + Congenital insensitivity to pain with severe intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 450322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450322 + Polyclonal hyperviscosity syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 449566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566 + Eosinophilic angiocentric fibrosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 449563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449563 + IgG4-related ophthalmic disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 449400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449400 + IgG4-related aortitis + + + + 165711 + Rare abdominal surgical disease + + + + Preferential parent + + + + + + 449395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395 + IgG4-related kidney disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 449432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432 + IgG4-related submandibular gland disease + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 449427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427 + IgG4-related pachymeningitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 449280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449280 + Scedosporiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 449285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449285 + Snakebite envenomation + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 449266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449266 + Pleural empyema + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 448426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448426 + Genetic primary orthostatic hypotension + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 448264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264 + Isolated focal non-epidermolytic palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 448251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251 + Progressive autosomal recessive ataxia-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 448270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270 + Ectopia cordis + + + + 97965 + Rare surgical cardiac disease + + + + Preferential parent + + + + + + 448267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 + Regressive spondylometaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 448010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 + CAD-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 447997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 + Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 448242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 + Autosomal recessive brachyolmia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 448237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448237 + Zika virus disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 447977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977 + Progressive scapulohumeroperoneal distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 447974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 + Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 447985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447985 + Partial duplication of the short arm of chromosome 19 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 447980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 + 19p13.3 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 447954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 + Combined oxidative phosphorylation defect type 25 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 447964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964 + Autosomal dominant Charcot-Marie-Tooth disease type 2V + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 447961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 + Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 459526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459526 + Rare genetic capillary malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 459345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459345 + Immunodeficiency due to a complement cascade component deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 459348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459348 + Immunodeficiency due to a complement regulatory deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 459543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459543 + Rare genetic vascular tumor + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 459548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459548 + Rare genetic venous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 459537 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459537 + Genetic complex vascular malformation with associated anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 459787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459787 + Lethal multiple congenital anomalies/dysmorphic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 458837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458837 + Rare combined vascular malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 458833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833 + Common cystic lymphatic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 458844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458844 + Rare vascular malformation of major vessels + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 459033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 + Ataxia-oculomotor apraxia type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 459051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 + Spondyloepiphyseal dysplasia, Stanescu type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 459061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 + Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 459056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 + Autosomal recessive spastic paraplegia type 75 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 459074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 + Corpus callosum agenesis-macrocephaly-hypertelorism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 459070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 + X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 458718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458718 + Idiopathic spontaneous coronary artery dissection + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 458758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758 + Composite hemangioendothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 458763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763 + Retiform hemangioendothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 458768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768 + Papillary intralymphatic angioendothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 458775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458775 + Congenital hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 458785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785 + Partially involuting congenital hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 458792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 + Mixed cystic lymphatic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 458798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 + Spinocerebellar ataxia type 41 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 458803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 + Spinocerebellar ataxia type 42 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 458830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458830 + Rare capillary malformation with associated anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485 + Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 + Progressive myoclonic epilepsy type 9 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 457279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 + Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260 + X-linked intellectual disability-hypotonia-movement disorder syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 457240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 + X-linked intellectual disability-short stature-overweight syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246 + Clear cell sarcoma of kidney + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 457395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 + Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 457406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 + Multiple mitochondrial dysfunctions syndrome type 4 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 457375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 + ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 457378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 + Complex lethal osteochondrodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 457359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 + Megalencephaly-severe kyphoscoliosis-overgrowth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365 + Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 + Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 + Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 + Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 457083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083 + Isolated splenogonadal fusion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457077 + TAFRO syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 457095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457095 + Actinomycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 457088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457088 + Predisposition to invasive fungal disease due to CARD9 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 457223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 + Syndromic sensorineural deafness due to combined oxidative phosphorylation defect + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 457212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 + Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 457193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 + KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 457205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 + Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 456369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 + Polyglucosan body myopathy type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 457059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 + Pseudohypoparathyroidism with Albright hereditary osteodystrophy + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 457062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062 + Pseudohypoparathyroidism without Albright hereditary osteodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 457074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457074 + Congenital nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 457050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 + Autosomal dominant mitochondrial myopathy with exercise intolerance + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 + Erythrokeratodermia variabilis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629 + Short stature due to growth hormone qualitative anomaly + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 + Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 + Autosomal recessive hypohidrotic ectodermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 + Autosomal dominant hypohidrotic ectodermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437 + Vogt-Koyanagi-Harada disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 2032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032 + Idiopathic pulmonary fibrosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303 + Bronchiolitis obliterans + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 3348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3348 + Tracheobronchopathia osteochondroplastica + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 2902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902 + Idiopathic chronic eosinophilic pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 1302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302 + Cryptogenic organizing pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 + Occipital horn syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 + Familial exudative vitreoretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 466677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466677 + Scorpion envenomation + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 466682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682 + Euthyroid Graves orbitopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 466688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 + Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695 + Supratip dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466658 + Rare disease with malignant hyperthermia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466670 + Cyanide poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 466650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650 + Exercise-induced malignant hyperthermia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962 + SMARCA4-deficient sarcoma of thorax + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 466950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 + Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943 + WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 + Seizures-scoliosis-macrocephaly syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 466934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 + VPS11-related autosomal recessive hypomyelinating leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921 + Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806 + Autosomal dominant thrombocytopenia with platelet secretion defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 466794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 + Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 + Macrocephaly-intellectual disability-left ventricular non compaction syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 + Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775 + Autosomal recessive Charcot-Marie-Tooth disease type 2X + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 466768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768 + Autosomal dominant Charcot-Marie-Tooth disease type 2Z + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 + Familial patent arterial duct + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 + Autosomal recessive spastic paraplegia type 77 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 466718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718 + Martinique crinkled retinal pigment epitheliopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 466703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 + TMEM199-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 465824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 + Fetal encasement syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 466084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466084 + Genetic otorhinolaryngologic disease + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 466066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466066 + Genetic hemoglobinopathy + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 466026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026 + Class I glucose-6-phosphate dehydrogenase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 468620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620 + Intellectual disability-epilepsy-extrapyramidal syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 468631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 + Microcephalic cortical malformations-short stature due to RTTN deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 467166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 + Tubulinopathy-associated dysgyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 467176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 + Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 468635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 + Cryptogenic multifocal ulcerous stenosing enteritis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 468641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 + Chronic enteropathy associated with SLCO2A1 gene + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 468661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 + Autosomal recessive spastic paraplegia type 74 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 468666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 + Isolated generalized anhidrosis with normal sweat glands + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 468678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 + White-Sutton syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 468684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 + CCDC115-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 468672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 + Colobomatous macrophthalmia-microcornea syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 468726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 + Severe primary trimethylaminuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 468699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 + SLC39A8-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 468717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 + Rhizomelic chondrodysplasia punctata type 5 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 401785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785 + Autosomal recessive spastic paraplegia type 62 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780 + Autosomal recessive spastic paraplegia type 61 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401800 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800 + Autosomal recessive spastic paraplegia type 60 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795 + Autosomal recessive spastic paraplegia type 59 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 + Proximal myopathy with extrapyramidal signs + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764 + Pancytopenia-developmental delay syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 401777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777 + Optic atrophy-intellectual disability syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 401830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830 + Autosomal recessive spastic paraplegia type 69 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835 + Autosomal recessive spastic paraplegia type 70 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840 + Autosomal recessive spastic paraplegia type 71 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805 + Autosomal recessive spastic paraplegia type 63 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 + Autosomal recessive spastic paraplegia type 64 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815 + Autosomal recessive spastic paraplegia type 66 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 + Autosomal recessive spastic paraplegia type 67 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 + Childhood-onset spasticity with hyperglycinemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 401869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 + Multiple mitochondrial dysfunctions syndrome type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 401874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 + Multiple mitochondrial dysfunctions syndrome type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 401849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 + Autosomal spastic paraplegia type 72 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401854 + Lipoic acid biosynthesis defect + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 401859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 + Lipoic acid synthetase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 401862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862 + Lipoyl transferase 1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 400008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400008 + Rare genetic female infertility + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 400003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400003 + Rare genetic disorder with obstructive azoospermia + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 399998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399998 + Male infertility due to obstructive azoospermia of genetic origin + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 399994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399994 + Rare male infertility due to adrenal disorder of genetic origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399983 + Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399980 + Rare genetic male infertility + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 399882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399882 + Rare female infertility due to an implantation defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 399877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399877 + Rare female infertility due to gonadal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 400025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400025 + Female infertility due to an implantation defect of genetic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 400022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400022 + Rare female infertility due to an anomaly of ovarian function of genetic origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 400018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400018 + Rare female infertility due to adrenal disorder of genetic origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 400011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400011 + Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 402823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402823 + Hepatitis delta + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 401920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920 + Fibrolamellar hepatocellular carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 401911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 + AXIN2-related polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 401901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 + Huntington disease-like syndrome due to C9ORF72 expansions + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942 + Familial median cleft of the upper and lower lips + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 401935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935 + 14q24.1q24.3 microdeletion syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923 + 9q31.1q31.3 microdeletion syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 + Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953 + Episodic ataxia with slurred speech + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 + Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 401945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 + Moyamoya disease with early-onset achalasia + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 401986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 + 1p31p32 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 401979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 + Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 401973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 + MEND syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964 + Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 402003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003 + Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 402007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402007 + Lichen myxedematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 401993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401993 + Cold-induced sweating syndrome-hyperthermia spectrum + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 401996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996 + Karyomegalic interstitial nephritis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 402017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017 + Acute myeloid leukemia with t(9;11)(p22;q23) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 402020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402020 + Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 402014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014 + Acute myeloid leukemia with t(6;9)(p23;q34) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 402029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402029 + Primary eosinophilic gastrointestinal disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 402035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035 + Eosinophilic colitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 402023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023 + Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 402026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026 + Acute myeloid leukemia with NPM1 somatic mutations + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 402082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 + Progressive myoclonic epilepsy type 5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 402364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 + Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 402041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 + Autosomal recessive distal renal tubular acidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 402075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 + Familial bicuspid aortic valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 + Scott syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 404580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404580 + Polyarticular juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 404584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404584 + Rare genetic bone development disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404469 + Rare female infertility due to oocyte maturation defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 + Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 + Multisystemic smooth muscle dysfunction syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 404466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466 + Female infertility due to zona pellucida defect + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 404451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 + FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 + Alacrimia-choreoathetosis-liver dysfunction syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 404443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 + Tatton-Brown-Rahman syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 + Helsmoortel-Van der Aa syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 + Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404577 + Genetic syndrome with limb malformations as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404574 + Genetic syndrome with limb reduction defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404571 + Dysostosis of genetic origin with limb anomaly as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404568 + Dysostosis of genetic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 404560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 + Familial atypical multiple mole melanoma syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 404553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404553 + Deficiency of adenosine deaminase 2 + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 404546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 + DITRA + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 404538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404538 + X-linked distal hereditary motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404521 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 + Spinal muscular atrophy with respiratory distress type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514 + Acquired cystic disease-associated renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 404511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511 + Clear cell papillary renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 404507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507 + Chondromyxoid fibroma + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 404499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 + Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 411527 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411527 + Central retinal vein occlusion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 411536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 + Mild phosphoribosylpyrophosphate synthetase superactivity + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 411543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 + Severe phosphoribosylpyrophosphate synthetase superactivity + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 411590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 + Wolfram-like syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 411593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411593 + Insulin autoimmune syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 411602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 + Hereditary late-onset Parkinson disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 411629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 + Infantile nephropathic cystinosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 411493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 + Pontocerebellar hypoplasia type 10 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 411501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501 + Williams-Campbell syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 411511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 + Angelman syndrome due to a point mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 411515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 + Angelman syndrome due to imprinting defect in 15q11-q13 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 411777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777 + Generalized eruptive keratoacanthoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 411712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 + Maternal riboflavin deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 411788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788 + Familial isolated trichomegaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 411986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 + Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 412035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 + 13q12.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 412022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022 + Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 411641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 + Ocular cystinosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 411634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 + Juvenile nephropathic cystinosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 411709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709 + Renal agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 411703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411703 + Pulmonary non-tuberculous mycobacterial infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 376724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376724 + Generalized isolated dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 371445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371445 + Genetic syndromic esophageal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 371861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371861 + Genetic hyperaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 371235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371235 + Congenital disorder of glycosylation with developmental anomaly + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371207 + Congenital disorder of glycosylation with nephropathy as a major feature + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371200 + Congenital disorder of glycosylation with skin involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371212 + Congenital disorder of glycosylation with deafness as a major feature + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 371436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371436 + Genetic neurovascular malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 371433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371433 + Genetic periodic paralysis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 371442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371442 + Sphingolipidosis with epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 371428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428 + Multicentric osteolysis-nodulosis-arthropathy spectrum + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 371364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 + Hypotonia-speech impairment-severe cognitive delay syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391711 + Persistent combined dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673 + Necrotizing enterocolitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 391677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677 + Short stature-optic atrophy-Pelger-Huët anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 391723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723 + Mucinous adenocarcinoma of the appendix + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 391799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391799 + Rare genetic dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 + Frontorhiny + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 391504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504 + Transient neonatal myasthenia gravis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391497 + Juvenile myasthenia gravis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490 + Adult-onset myasthenia gravis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 + STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 391646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 + Feingold syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 391641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 + Feingold syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 391665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 + Homozygous familial hypercholesterolemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 391655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391655 + Off-periods in Parkinson disease not responding to oral treatment + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 391651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391651 + Glomus tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 391343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 + Fatal post-viral neurodegenerative disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 + Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 391351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 + SURF1-related Charcot-Marie-Tooth disease type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366 + Growth retardation-mild developmental delay-chronic hepatitis syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 391372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 + FOXP1 Syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 + Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391381 + Disorder of asparagine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 391384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384 + Familial episodic pain syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389 + Familial episodic pain syndrome with predominantly upper body involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392 + Familial episodic pain syndrome with predominantly lower limb involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397 + Hereditary sensory and autonomic neuropathy type 7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 + Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411 + Atypical juvenile parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 + HSD10 disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 391428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 + HSD10 disease, infantile type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 391457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 + HSD10 disease, neonatal type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 391307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 + Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 391316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316 + Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 391311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391311 + Susceptibility to viral and mycobacterial infections due to STAT1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 391327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327 + X-linked calvarial hyperostosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 391320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320 + East Texas bleeding disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 391330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 + X-linked osteoporosis with fractures + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 398063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063 + Refractory celiac disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 398058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058 + Squamous cell carcinoma of the penis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 398053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053 + Adenocarcinoma of the penis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 398043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043 + Malignant tumor of penis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 397973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 + Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 397968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968 + Charcot-Marie-Tooth disease type 2R + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 + Combined immunodeficiency due to MALT1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 397959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 + TCR-alpha-beta-positive T-cell deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 397951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 + Microcephaly-thin corpus callosum-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946 + Autosomal spastic paraplegia type 58 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 + MAN1B1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 397937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 + Polyglucosan body myopathy type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 397933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 + Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 + Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 397922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 + Ferro-cerebro-cutaneous syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 + Combined immunodeficiency due to IKBKB deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 397802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397802 + T+ B+ severe combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 397755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 + Periodic paralysis with transient compartment-like syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758 + Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 397744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 + MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 + Periodic paralysis with later-onset distal motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 + COASY protein-associated neurodegeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735 + Autosomal dominant Charcot-Marie-Tooth disease type 2U + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 + Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 397715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 + Joubert syndrome with Jeune asphyxiating thoracic dystrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 397692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 + Hereditary isolated aplastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 397623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 + Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 397685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 + Familial hyperprolactinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 397615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615 + Obesity due to CEP19 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 397618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618 + Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 397596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397596 + Activated PI3K-delta syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 397593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 + Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 397612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 + Macrocephaly-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 397606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 + PrP systemic amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 397590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 + Silver-Russell syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 397587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397587 + Deep dermatophytosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 394532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 + Multiple acyl-CoA dehydrogenase deficiency, mild type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 394529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 + Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 399839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399839 + Rare female infertility due to a congenital hypogonadotropic hypogonadism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399831 + Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399824 + Rare disorder with obstructive azoospermia + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 399813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399813 + Male infertility due to sperm motility disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 399853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399853 + Rare female infertility due to an anomaly of ovarian function + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399849 + Rare female infertility due to an adrenal disorder + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399846 + Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399771 + Male infertility due to sperm disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 399764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399764 + Male infertility due to gonadal dysgenesis or sperm disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 399685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399685 + Rare male infertility due to testicular endocrine disorder + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399584 + Rare male infertility due to adrenal disorder + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399808 + Male infertility with teratozoospermia due to single gene mutation + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 399805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805 + Male infertility with azoospermia or oligozoospermia due to single gene mutation + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 399786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399786 + Male infertility with spermatogenesis disorder due to single gene mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 399775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399775 + Male infertility with spermatogenesis disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 399329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329 + Epiphysiolysis of the hip + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399391 + Osteochondrosis of genetic origin + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399572 + Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 399380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399380 + Osteonecrosis of genetic origin + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399388 + Avascular necrosis of genetic origin + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180 + Secondary non-traumatic avascular necrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399185 + Rare hereditary disease with avascular necrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399169 + Secondary avascular necrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399175 + Traumatic avascular necrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399307 + Idiopathic avascular necrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399319 + Osteochondrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399293 + Osteonecrosis of the jaw + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399302 + Primary avascular necrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 + Alpha-B crystallin-related late-onset myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 398987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987 + Malignant teratoma of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 399086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086 + HNRNPA1-related adult-onset distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 399081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081 + KLHL9-related early-onset distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 399103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103 + Autosomal recessive distal nebulin myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 399096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096 + Distal anoctaminopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 399164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399164 + Avascular necrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 399158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399158 + Osteonecrosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 398934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398934 + Malignant epithelial tumor of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 398961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961 + Mucinous adenocarcinoma of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 398940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398940 + Malignant non-epithelial tumor of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 398971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398971 + Clear cell adenocarcinoma of the ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 398124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398124 + Neonatal lupus erythematosus + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 398127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398127 + Neonatal scleroderma + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 398147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398147 + Persistent idiopathic facial pain + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 398156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156 + Oculoauriculofrontonasal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 398166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166 + Focal facial dermal dysplasia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 398173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173 + Focal facial dermal dysplasia type II + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 398189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 + Focal facial dermal dysplasia type IV + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 398069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 + Schaaf-Yang syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 398073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 + Prader-Willi-like syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 398079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 + SIM1-related Prader-Willi-like syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 398088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088 + Hereditary cryohydrocytosis with normal stomatin + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 398091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398091 + Secondary neonatal autoimmune disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 398097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398097 + Neonatal antiphospholipid syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 398109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398109 + Neonatal autoimmune hemolytic anemia + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 398117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398117 + Neonatal dermatomyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 435564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435564 + Genetic precocious puberty in female + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 435561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435561 + Rare precocious puberty in female + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 435554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435554 + Genetic precocious puberty + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 435609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435609 + Genetic larynx anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435606 + Genetic nose and cavum anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435603 + Genetic otorhinolaryngological malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 + Keppen-Lubinsky syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 435612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435612 + Genetic tracheal anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 + Congenital urachal anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 + LIPE-related familial partial lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 435651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 + CIDEC-related familial partial lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 435638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 + 3p25.3 microdeletion syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 435804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 + Short stature-advanced bone age-early-onset osteoarthritis syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 435845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845 + Lethal neonatal spasticity-epileptic encephalopathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 435930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930 + Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 435953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953 + Progeroid features-hepatocellular carcinoma predisposition syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 + Chronic atrial and intestinal dysrhythmia syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 435934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 + COG2-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 435938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 + X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 436141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 + HIDEA syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 436144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144 + Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 435998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type D + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 436003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 + Contractures-developmental delay-Pierre Robin syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 436159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 + Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 436151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 + Intellectual disability-expressive aphasia-facial dysmorphism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 436169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169 + Thrombomodulin-related bleeding disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 436166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 + Periodic fever-infantile enterocolitis-autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 436182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 + Microcephalic primordial dwarfism-insulin resistance syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 436174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 + Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 436245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 + Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 436242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 + Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 436271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 + Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 436252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 + Combined immunodeficiency-multiple intestinal atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 436274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 + Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 437552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437552 + Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 438178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 + Fatty acyl-CoA reductase 1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 438159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 + STAT3-related early-onset multisystem autoimmune disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 438134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 + PCNA-related progressive neurodegenerative photosensitivity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 438117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 + Steel syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 438114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 + RARS-related autosomal recessive hypomyelinating leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 438075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 + Ketoacidosis due to monocarboxylate transporter-1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 438072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438072 + Disorder of keton body transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 438279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438279 + Human infection by orthopoxvirus + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 438274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274 + GCGR-related hyperglucagonemia + + + + 165711 + Rare abdominal surgical disease + + + + Preferential parent + + + + + + 438266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266 + Progressive encephalomyelitis with rigidity and myoclonus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 438216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216 + PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 438213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213 + PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 438207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207 + Severe autosomal recessive macrothrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 439224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439224 + ALECT2 amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 439232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232 + AApoAIV amyloidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 439212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212 + Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 439218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 + KCNQ2-related developmental and epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 439196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196 + Zinc-responsive necrolytic acral erythema + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 439202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439202 + Non-recovering obstetric brachial plexus lesion + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 439167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439167 + Placental insufficiency + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 439175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439175 + Pediatric arterial ischemic stroke + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 439762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762 + Systemic polyarteritis nodosa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 439822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 + PDE4D haploinsufficiency syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 439746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746 + Secondary polyarteritis nodosa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 439755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755 + Single-organ polyarteritis nodosa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 439729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729 + Cutaneous polyarteritis nodosa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 439737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737 + Primary polyarteritis nodosa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 439246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439246 + ABeta2M amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 439254 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254 + ITM2B amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 440221 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440221 + Congenital oculomotor nerve palsy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 440233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440233 + Congenital abducens nerve palsy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 439854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 + Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 439849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439849 + Autosomal recessive severe congenital neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 439897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 + Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 439881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439881 + Plastic bronchitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 440402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402 + Interstitial lung disease due to ABCA3 deficiency + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 440354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 + Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 440392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392 + Interstitial lung disease due to SP-C deficiency + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 440368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440368 + Necrotizing soft tissue infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 440713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 + Isolated sedoheptulokinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 440727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440727 + Combined hamartoma of the retina and retinal pigment epithelium + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 440731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 + L-ferritin deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 440427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 + Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 440437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 + Familial colorectal cancer Type X + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 440701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440701 + Disorders of pentose/polyol metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 440706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 + Ribose-5-P isomerase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 441434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441434 + Syndromic hereditary optic neuropathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 441447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447 + Early-onset posterior subcapsular cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 441452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452 + Early-onset lamellar cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 440987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440987 + Isolated agenesis of gallbladder + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 443057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 + Sporadic porphyria cutanea tarda + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 443062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 + Familial porphyria cutanea tarda + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 443079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443079 + Central serous chorioretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 443084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443084 + Baroreflex failure + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443070 + Hemicrania continua + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073 + Charcot-Marie-Tooth disease type 2S + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 442835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 + Non-specific early-onset epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 442582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582 + AH amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3276 + Disorder of plasmalogens biosynthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 443197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 + X-linked erythropoietic protoporphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 3008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 + Pyruvate carboxylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 443192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192 + Classic stiff person syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595 + Centronuclear myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443180 + Spontaneous intracranial hypotension + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443173 + Postpartum psychosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443291 + HIV-associated cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 + Mitochondrial neurogastrointestinal encephalomyopathy + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=396 + Chronic hiccup + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236 + Postural orthostatic tachycardia syndrome due to NET deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552 + MODY + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=854 + Non-malignant and non-cirrhotic portal vein thrombosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 443227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443227 + Paratyphoid fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 443098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 + Hyperostosis cranialis interna + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 443095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443095 + Hyperinsulinemic hypoglycaemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 443090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090 + 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 443087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 + 46,XY difference of sex development due to testicular 17,20-desmolase deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 443167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443167 + NUT midline carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 + Brugada syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 + Severe combined immunodeficiency due to adenosine deaminase deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 443162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 + NDE1-related microhydranencephaly + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159 + Lymphoplasmacytic lymphoma without IgM production + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 443101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443101 + Hypothalamic adipsic hypernatraemia syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 443804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804 + Focal stiff limb syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 + PGM3-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 443909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909 + Hereditary nonpolyposis colon cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 443950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950 + DNAJB2-related Charcot-Marie-Tooth disease type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 443988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 + Ventriculomegaly-cystic kidney disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 + Autoimmune interstitial lung disease-arthritis syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 444099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099 + Autosomal dominant spastic paraplegia type 73 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 444116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444116 + Hereditary amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 444138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 + Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 444002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002 + 11q22.2q22.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 443995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 + Mandibulofacial dysostosis with alopecia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 + 46,XX ovarian dysgenesis-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 + Combined oxidative phosphorylation defect type 23 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 444069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 + Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051 + 20q11.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 + Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 + Cerebellar-facial-dental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444463 + Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 444490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 + Familial chylomicronemia syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 444316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316 + Idiopathic phalangeal acro-osteolysis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 444458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 + Combined oxidative phosphorylation defect type 24 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 445110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 + Limb-girdle muscular dystrophy due to POMK deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 445062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 + Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 445038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 + 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 445018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 + Syndromic autoimmune enteropathy due to LRBA deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 444941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941 + Caudal regression-sirenomelia spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444916 + Pseudohypoaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 447731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731 + NIK deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 447737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 + Combined immunodeficiency due to DOCK2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 447740 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740 + Aggressive periodontitis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 445197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445197 + Secondary vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 447881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447881 + Idiopathic dropped head syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 447877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 + Polymerase proofreading-related polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 447896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 + Tremor-ataxia-central hypomyelination syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 447893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 + Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 447788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447788 + Cerebral visual impairment + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 447874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447874 + Biological anomaly without phenotypic characterization + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 447795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 + Lipoyl transferase 2 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 447774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774 + Secondary sclerosing cholangitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 447771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447771 + Sclerosing cholangitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 447784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 + Mitochondrial pyruvate carrier deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 447777 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447777 + Keratocystic odontogenic tumor + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 447757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757 + Autosomal dominant spastic paraplegia type 9B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 447753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 + Autosomal dominant spastic paraplegia type 9A + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 447764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764 + IgG4-related sclerosing cholangitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 447760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 + Autosomal recessive spastic paraplegia type 9B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 412066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 + PRKAR1B-related neurodegenerative dementia with intermediate filaments + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 412057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 + Autosomal recessive cerebellar ataxia due to STUB1 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 412181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181 + Epidermolysis bullosa simplex due to BP230 deficiency + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 412069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069 + AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 412189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189 + Epidermolysis bullosa simplex due to exophilin 5 deficiency + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 412217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412217 + Dystonia-aphonia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 412206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206 + Primary failure of tooth eruption + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 418959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959 + Squamous cell carcinoma of the stomach + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 418945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945 + Carcinoma of esophagus, salivary gland type + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 418951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951 + Undifferentiated carcinoma of esophagus + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 420259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420259 + Secondary pulmonary alveolar proteinosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 420179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 + Malan overgrowth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 414726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414726 + Genetic facial cleft + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 415286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286 + Bilirubin encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 420755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420755 + Rare genetic odontal or periodontal disorder + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 420789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789 + Autoimmune encephalopathy with parasomnia and obstructive sleep apnea + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 420794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 + Cono-spondylar dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 420702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702 + Autosomal recessive severe congenital neutropenia due to CSF3R deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 420728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 + Combined oxidative phosphorylation defect type 20 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 420733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 + Combined oxidative phosphorylation defect type 21 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 420741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 + RIDDLE syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 420492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492 + Adult-onset cervical dystonia, DYT23 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 420485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485 + Cranio-cervical dystonia with laryngeal and upper-limb involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 420556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420556 + Visual snow syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 420402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420402 + Semicircular canal dehiscence syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 420429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 + Glycogen storage disease due to acid maltase deficiency, late-onset + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 420611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611 + Transient myeloproliferative syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 420584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 + Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 420699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699 + Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 420686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 + Woolly hair-palmoplantar keratoderma syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 420561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 + Temple-Baraitser syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 420573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 + Severe combined immunodeficiency due to CTPS1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 420566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566 + Bleeding disorder due to CalDAG-GEFI deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 423461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 + Mucolipidosis type III alpha/beta + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 423470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 + Mucolipidosis type III gamma + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 423454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 + Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 423384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 + Severe congenital neutropenia due to JAGN1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 423296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 + Spinocerebellar ataxia type 38 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 423306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 + Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 423717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423717 + Cutaneous larva migrans + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 423771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423771 + Rare carcinoma of stomach + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423693 + Double outlet right ventricle with subaortic or doubly committed ventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 423712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423712 + Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 423662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423662 + Rare autonomic nervous system disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 423479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 + X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 423655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 + ARX-related encephalopathy-brain malformation spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 422526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526 + Hereditary clear cell renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 + Spinocerebellar ataxia type 40 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 424065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065 + Pancreatic solid pseudopapillary neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058 + Intraductal papillary mucinous carcinoma of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080 + Undifferentiated carcinoma with osteoclast-like giant cells of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073 + Serous cystadenocarcinoma of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 + Congenital myopathy with myasthenic-like onset + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 424099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 + Colobomatous microphthalmia-rhizomelic dysplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 424925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424925 + Qualitative or quantitative defects of Torsin-1A-interacting protein 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 424261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 + TOR1AIP1-related limb-girdle muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 424016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016 + Adenocarcinoma of the anal canal + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013 + Carcinoma of the anal canal + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 + Progressive myoclonic epilepsy type 8 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 424019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019 + Squamous cell carcinoma of the anal canal + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039 + Squamous cell carcinoma of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424033 + Rare epithelial tumor of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053 + Mucinous cystadenocarcinoma of the pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046 + Acinar cell carcinoma of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968 + Squamous cell carcinoma of the small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975 + Neuroendocrine tumor of the small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982 + Epithelial tumor of the appendix + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991 + Rare epithelial tumor of colon + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994 + Squamous cell carcinoma of the colon + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423998 + Rare epithelial tumor of rectum + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002 + Squamous cell carcinoma of the rectum + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010 + Epithelial tumor of anal canal + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423776 + Hereditary gastric cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786 + Undifferentiated carcinoma of stomach + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793 + Rare tumor of small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798 + Mesenchymal tumor of small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 423894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894 + Microcephaly-complex motor and sensory axonal neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 423957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957 + Rare carcinoma of small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 431140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 + X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 425368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368 + Rare epithelial tumor of small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 425003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425003 + Inherited digestive cancer-predisposing syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 425120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 + STING-associated vasculopathy with onset in infancy + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 424943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943 + Adenocarcinoma of the liver and intrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970 + Undifferentiated carcinoma of liver and intrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424933 + Rare malignant epithelial tumor of liver and intrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424936 + Carcinoma of liver and intrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991 + Adenocarcinoma of the gallbladder and extrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996 + Squamous cell carcinoma of gallbladder and extrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975 + Squamous cell carcinoma of liver and intrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 424982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982 + Biliary cystadenocarcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 431361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 + Progressive encephalopathy with leukodystrophy due to DECR deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 431353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431353 + Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 431341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 + Patent urachus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 431344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 + Urachal sinus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 431347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 + Urachal diverticulum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 431272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272 + X-linked scapuloperoneal muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 431320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320 + Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 431329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 + Autosomal recessive spastic paraplegia type 57 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 431255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 + Scapuloperoneal spinal muscular atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 431263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431263 + Late-onset scapuloperoneal muscular dystrophy with hyaline bodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 431149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 + Combined immunodeficiency due to OX40 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 431156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431156 + Primary immunodeficiency with predisposition to severe viral infection + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 431166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431166 + Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 435438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 + Progressive myoclonic epilepsy type 7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 435387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387 + Autosomal dominant Charcot-Marie-Tooth disease type 2Y + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 435372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 + Anterior urethral valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365 + Fetal lower urinary tract obstruction + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 435329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329 + Familial ossifying fibroma + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 434809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434809 + Syndrome with woolly hair + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 434786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434786 + Rare genetic autonomic nervous system disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 434179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 + Orofaciodigital syndrome type 14 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 504476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 + Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 504523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523 + Severe combined immunodeficiency due to LAT deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 504530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530 + Combined immunodeficiency due to Moesin deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 26793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 + Very long chain acyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 29072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072 + Hereditary pheochromocytoma-paraganglioma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 28378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 + Tyrosinemia type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 29207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29207 + Reactive arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 29073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073 + Multiple myeloma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 29822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29822 + Spontaneous periodic hypothermia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 30391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 + Isolated biliary atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 + Apparent mineralocorticoid excess + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724 + Idiopathic acute eosinophilic pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 + Dopamine beta-hydroxylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 + Developmental and epileptic encephalopathy with spike-wave activation in sleep + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 + Congenital myasthenic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 + Familial hyperaldosteronism type II + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756 + Pseudohypoaldosteronism type 1 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162 + Congenital cataract-anterior segment dysgenesis syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 544 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544 + Diffuse large B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545 + Follicular lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 88 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88 + Idiopathic aplastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 + Multiple system atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 + Primary myelofibrosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=748 + Mendelian susceptibility to mycobacterial diseases + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729 + Polycythemia vera + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 25980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 + X-linked myopathy with excessive autophagy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 26137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26137 + Juvenile temporal arteritis + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 26106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 + Hereditary diffuse gastric cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 505395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505395 + Ventilator-induced diaphragmatic dysfunction + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 25968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968 + Self-limited childhood occipital epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 26790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26790 + Pseudomyxoma peritonei + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 26792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 + Short chain acyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 26791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 + Multiple acyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 26348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26348 + Acquired prothrombin deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 26349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26349 + Protein S acquired deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=831 + Congenital cervical spinal stenosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 49 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 + Penile agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 + Diphallia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 674 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674 + Accessory pancreas + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=386 + Hepatic cystic hamartoma + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 + Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 + Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641 + Multifocal motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 + Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603 + Distal myopathy, Welander type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 505227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227 + Combined immunodeficiency due to GINS1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 + Muscle-eye-brain disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 505237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 + Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 + Walker-Warburg syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 505216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 + 3-methylglutaconic aciduria type 9 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 + Congenital muscular dystrophy, Fukuyama type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 505208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 + 3-methylglutaconic aciduria type 8 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 + Dysferlin-related limb-girdle muscular dystrophy R2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263 + Limb-girdle muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 + Vocal cord and pharyngeal distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 505248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 + Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 + Tibial muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 + GNE myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 505242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 + Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 508093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 + MEPAN syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 508533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 + Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 508542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 + Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 508410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410 + Familial intestinal malrotation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 508512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512 + Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 508529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529 + Intermediate epidermolysis bullosa simplex with cardiomyopathy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 508523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 + Hyperphenylalaninemia due to DNAJC12 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 508488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 + 8q24.3 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 508476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 + Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 508501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 + Orofaciodigital syndrome type 18 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 508498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 + Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 505652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 + CDKL5-deficiency disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 506784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506784 + Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 506334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 + Familial steroid-resistant nephrotic syndrome with adrenal insufficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 506307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 + Stromme syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 506358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 + Gabriele-de Vries syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 506353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 + Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 506216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506216 + Rare disorder potentially indicated for bowel transplant + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 506219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506219 + Rare disorder potentially indicated for hematopoietic stem cell transplant + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 506222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506222 + Rare disorder potentially indicated for lung transplant + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 506225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506225 + Rare disorder potentially indicated for heart transplant + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 506136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136 + Neuroendocrine neoplasm of esophagus + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 506207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506207 + Rare disorder potentially indicated for transplant + + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + Preferential parent + + + + + + 506210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506210 + Rare disorder potentially indicated for liver transplant + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 506213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506213 + Rare disorder potentially indicated for kidney transplant + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 506090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090 + Serotonin-producing neuroendocrine tumor of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 506098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098 + Neuroendocrine carcinoma of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 506112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112 + Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 506052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506052 + Neuroendocrine neoplasm of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 506060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060 + Functioning neuroendocrine tumor of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 506075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075 + Non-functioning neuroendocrine tumor of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 495274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274 + Charcot-Marie-Tooth disease type 2T + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 495844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 + C11ORF73-related autosomal recessive hypomyelinating leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 495818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 + 9q33.3q34.11 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 495879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879 + Congenital agenesis of the scrotum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 495875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 + Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 495930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930 + Familial monosomy 7 syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 496641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 + Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 496686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686 + Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 496689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689 + Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 496693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 + Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 496751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 + EVEN-plus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 496756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 + Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 496790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 + Ocular anomalies-axonal neuropathy-developmental delay syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 494433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 + MIRAGE syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 494439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 + Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 494424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424 + Extracranial carotid artery aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 494428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428 + Idiopathic pleuroparenchymal fibroelastosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 494451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494451 + Vulvar basal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 494454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494454 + Vulvar adenocarcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 494444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 + DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 494448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494448 + Vulvar squamous cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 494344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 + RERE-related neurodevelopmental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 494418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494418 + Vulvar carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 494421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421 + Sacrococcygeal teratoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 494547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547 + Squamous cell carcinoma of the hypopharynx + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 494541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 + Childhood-onset benign chorea with striatal involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 494526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 + Infantile-onset generalized dyskinesia with orofacial involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 494457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494457 + Rare hyperkinetic movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 494550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550 + Squamous cell carcinoma of the larynx + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 500180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 + Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 500188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 + X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 68 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68 + Amoebiasis due to free-living amoebae + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 781 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=781 + Q fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 500150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 + ZTTK syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 + Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163 + Witteveen-Kolk syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 + Inherited epidermodysplasia verruciformis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297 + Tick-borne encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 500166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 + SIN3-related intellectual disability syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182 + Chromomycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=128 + Diphyllobothriasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=283 + Demodicidosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210 + Cyclosporiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 76 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=76 + Strongyloidiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 74 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=74 + Angiostrongyliasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108 + Babesiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 78 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=78 + Ankylostomiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 500135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 + Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 + Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 + Hao-Fountain syndrome due to 16p13.2 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 + Tall stature-intellectual disability-renal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500062 + Infantile-onset periodic fever-panniculitis-dermatosis syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129 + Pseudopelade of Brocq + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 + Björnstad syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 + Wagner disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 500478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478 + Squamous cell carcinoma of the oropharynx + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518 + Acute megakaryoblastic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318 + Acute erythroid leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514 + Acute monoblastic/monocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517 + Acute myelomonocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 + Graham Little-Piccardi-Lassueur syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346 + Quinquaud folliculitis decalvans + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222 + Erosive pustular dermatosis of the scalp + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 + Woolly hair + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 500548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 + Osteosclerotic metaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169 + Ringed hair disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 500533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 + Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168 + Loose anagen syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 500545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 + Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345 + Dissecting cellulitis of the scalp + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=591 + Furuncular myiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=723 + Pneumocystosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=472 + Isosporiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504 + Creeping myiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401 + Hymenolepiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=390 + Histoplasmosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=400 + Cystic echinococcosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 500464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464 + Squamous cell carcinoma of the nasal cavity and paranasal sinuses + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520 + Acute promyelocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450 + Visceral heterotaxy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529 + Roch-Leri mesosomatous lipomatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224 + Neonatal diabetes mellitus + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=826 + Sporotrichosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=879 + Tungiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 502305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305 + Cochleovestibular malformation + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 502318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318 + Cochlear nerve deficiency + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 502363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363 + Squamous cell carcinoma of the oral cavity + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 502366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366 + Squamous cell carcinoma of the lip + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 502369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502369 + Squamous cell carcinoma of oral cavity and lip + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 502423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 + Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 502430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 + Weiss-Kruszka Syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 502434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434 + STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 502437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 + 4q25 proximal deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 502499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502499 + Erythema multiforme major + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 502444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 + Alkaline ceramidase 3 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 + Normosmic congenital hypogonadotropic hypogonadism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 + Aromatase deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 + Estrogen resistance syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=873 + Desmoid tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 679 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679 + Malignant atrophic papulosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=901 + Wells syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703 + Bullous pemphigoid + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841 + Sebocystomatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 817 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817 + Peeling skin syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 + Familial multiple trichoepithelioma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735 + Porokeratosis of Mibelli + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 497906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 + Childhood-onset basal ganglia degeneration syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 659 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659 + Mutilating palmoplantar keratoderma with periorificial keratotic plaques + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 + Porokeratosis plantaris palmaris et disseminata + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 497623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 + C12ORF65-related combined oxidative phosphorylation defect + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 + Hereditary leiomyomatosis and renal cell cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 497737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 + Epidermolytic nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314 + Erythroderma desquamativum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 497757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 + MME-related autosomal dominant Charcot Marie Tooth disease type 2 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 497764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 + Spinocerebellar ataxia type 43 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 + Lipoid proteinosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493 + Familial keratoacanthoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 497188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497188 + Diffuse intrinsic pontine glioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498 + Keratosis pilaris atrophicans + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 496916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496916 + Rare genetic hyperkinetic movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 496924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496924 + Non-inflammatory vasculopathy + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454 + Acquired ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=490 + Omphalomesenteric cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467 + Non-syndromic postaxial polydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464 + Non-syndromic preaxial polydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461 + Non-syndromic terminal transverse limb defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 + Congenital primary megaureter + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 + Urachal cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457 + Non-syndromic longitudinal limb defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 + Atresia of urethra + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454 + Dysostosis with brachydactyly with extraskeletal manifestations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 + Duplication of urethra + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451 + Dysostosis with brachydactyly without extraskeletal manifestations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498448 + Overgrowth or tall stature syndrome with skeletal involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 + Alpha delta granule deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 + Gray platelet syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 498445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498445 + Genetic inflammatory or rheumatoid-like osteoarthropathy + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722 + Hypoplasminogenemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749 + Congenital prekallikrein deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=853 + Fetal and neonatal alloimmune thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483 + Congenital high-molecular-weight kininogen deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 498359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359 + Aquagenic palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852 + X-linked thrombocytopenia with normal platelets + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 498350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498350 + Syndromic biliary atresia + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 + Congenital plasminogen activator inhibitor type 1 deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 498345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498345 + Biliary atresia and associated disorders + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310 + Reflex epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 498251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251 + Menstrual cycle-dependent periodic fever + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 1332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1332 + Medullary thyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=877 + Neuroendocrine neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 73 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 + Gorham-Stout disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498228 + Phyllodes tumor of the prostate + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728 + Relapsing polychondritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467 + Non-acquired combined pituitary hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=142 + Anaplastic thyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143 + Parathyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 + Generalized glucocorticoid resistance syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 1676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 + Idiopathic pulmonary artery dilatation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666 + Dextrocardia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461 + Criss-cross heart + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1205 + Mitral atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 3192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 + Supravalvular pulmonary stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=875 + Primary pediatric heart tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 499085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499085 + Chronic relapsing inflammatory optic neuritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 + Hereditary atrial fibrillation + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 + Familial atrial myxoma + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=874 + Primary adult heart tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 499009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009 + Congenital syphilis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 1330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330 + Partial atrioventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 499047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499047 + Autoimmune/inflammatory optic neuropathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 1677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 + Familial idiopathic dilatation of the right atrium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 + Short rib-polydactyly syndrome type 5 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720 + Pili bifurcati + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671 + Primary cutis verticis gyrata + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864 + Trichofolliculoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 498602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602 + Sugarman brachydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 + Inherited arrhythmogenic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 498693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693 + MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470 + Non-syndromic complex polydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444 + Marie Unna hereditary hypotrichosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2221 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221 + Acquired hypertrichosis lanuginosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 498474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 + Hyaline fibromatosis syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=492 + Proliferating trichilemmal cyst + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 498477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498477 + Ectrodactyly with and without other manifestations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 498481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481 + LRP5-related primary osteoporosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499 + Kerion celsi + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 498485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485 + Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573 + Monilethrix + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 498488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 + Overgrowth syndrome with 2q37 translocation + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525 + Lichen planopilaris + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 498491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 + Non-syndromic complete hemimelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700 + Alopecia totalis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840 + Syringocystadenoma papilliferum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 498494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 + Mirror-image polydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384 + Huriez syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315 + Erythrokeratoderma ''en cocardes'' + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409 + Hyperkeratosis lenticularis perstans + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 41 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41 + Dyschromatosis symmetrica hereditaria + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 + Birt-Hogg-Dubé syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 38 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 + Acrokeratoelastoidosis of Costa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 39 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39 + Acromelanosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241 + Dyschromatosis universalis hereditaria + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 + Progressive symmetric erythrokeratodermia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 + Familial cylindromatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658 + Non-histaminic angioedema + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 3282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3282 + Multifocal atrial tachycardia + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=188 + Systemic capillary leak syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303 + Dystrophic epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305 + Junctional epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 3406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406 + Ulerythema ophryogenesis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 499182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182 + Pilomatrix carcinoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 2908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 + Kindler epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 81 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81 + Antisynthetase syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 499107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499107 + Idiopathic optic perineuritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563 + Peripartum cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=764 + Pyomyositis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 499096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499096 + Isolated optic neuritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 779 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 + Reynolds syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 499103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499103 + Recurrent idiopathic neuroretinitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838 + Susac syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=889 + Cutaneous small vessel vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482 + Kimura disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 485631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631 + Congenital bile acid synthesis defect + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 485426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426 + Isolated congenital hepatic fibrosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 486811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 + Prenatal-onset spinal muscular atrophy with congenital bone fractures + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 486815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 + Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 485418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418 + EMILIN-1-related connective tissue disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 485421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 + MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 485382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485382 + Rare genetic premature ovarian failure + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 485405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405 + 16p12.1p12.3 triplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 485350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 + CLCN4-related X-linked intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 485358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 + Propylthiouracil embryofetopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 485275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 + Acquired schizencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 482606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 + X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 482092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482092 + Rare idiopathic macular telangiectasia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 482601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601 + Adenylosuccinate synthetase-like 1-related distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 31828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31828 + Digitalis poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 480864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 + Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 31837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837 + Pulmonary venoocclusive disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 480907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 + X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 480898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 + Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 480880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 + X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 31740 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740 + Hypersensitivity pneumonitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 480556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 + Isolated neonatal sclerosing cholangitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 480553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480553 + Aneurysmal bone cyst + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 480549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480549 + Non-severe combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 480541 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480541 + High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 31826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31826 + Ethylene glycol poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 480851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 + Hereditary thrombocytopenia with early-onset myelofibrosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 31827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31827 + Paraquat poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 31824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31824 + Colchicine poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 480701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480701 + Facial diplegia with paresthesias + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 480682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 + POGLUT1-related limb-girdle muscular dystrophy R21 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 31825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31825 + Methanol poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 481665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 + Pseudo-TORCH syndrome type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 481671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481671 + Type 1 interferonopathy of childhood + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 482072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482072 + HTRA1-related cerebral small vessel disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 482077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 + HTRA1-related autosomal dominant cerebral small vessel disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 481771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481771 + Genetic alopecia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 481986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 + Familial schizencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 481152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 + PYCR2-related microcephaly-progressive leukoencephalopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 481662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 + Familial Chilblain lupus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 481508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481508 + Gastroenteric neuroendocrine neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 480476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 + Progressive familial intrahepatic cholestasis type 5 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 480491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 + MYO5B-related progressive familial intrahepatic cholestasis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 480483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 + Progressive familial intrahepatic cholestasis type 4 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 480528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 + Lethal hydranencephaly-diaphragmatic hernia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 480524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480524 + Idiopathic peliosis hepatis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 480536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 + MSH3-related polyposis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 480531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 + Congenital portosystemic shunt + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 480506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480506 + Primary intrahepatic lithiasis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 480501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501 + Choledochal cyst + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 480520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520 + Caroli syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 480512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480512 + Idiopathic ductopenia + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 477811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811 + Rare hypercholesterolemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 477814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 + Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 477805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477805 + Genetic cardiac malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 477808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477808 + Other genetic dermis disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 477794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477794 + Syndromic constitutional thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 477797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477797 + Isolated constitutional thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 477781 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477781 + Primary condylar hyperplasia + + + + 68329 + Rare maxillo-facial surgical disease + + + + Preferential parent + + + + + + 477787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 + Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 478029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 + Combined oxidative phosphorylation defect type 29 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 478042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 + Combined oxidative phosphorylation defect type 30 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 477993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 + Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 477857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857 + Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 477817 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 + PMP22-RAI1 contiguous gene duplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 477831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 + Kosaki overgrowth syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 478049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 + Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 478664 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664 + Hereditary sensory and autonomic neuropathy type 8 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477647 + Type 1 interferonopathy + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 477650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477650 + Fibroblastic rheumatism + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 477661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 + IL21-related infantile inflammatory bowel disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 477684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 + Combined oxidative phosphorylation defect type 26 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 477673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 + Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738 + Pediatric multiple sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749 + Pontine autosomal dominant microangiopathy with leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742 + Nodular fasciitis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 477759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477759 + COL4A1 or COL4A2-related cerebral small vessel disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477754 + Genetic cerebral small vessel disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477765 + COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477762 + COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477771 + Rare disorder with a moyamoya angiopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477768 + Moyamoya angiopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 477774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 + Combined oxidative phosphorylation defect type 27 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 476116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476116 + Demyelinating hereditary motor and sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 476119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 + Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 476109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476109 + Axonal hereditary motor and sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 476113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 + Combined immunodeficiency due to TFRC deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 476123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476123 + Intermediate Charcot-Marie-Tooth disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 476126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 + Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 476406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 + Congenital generalized hypercontractile muscle stiffness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 476394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394 + PMP2-related Charcot-Marie-Tooth disease type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 476403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476403 + Hypercontractile muscle stiffness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 493342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342 + Vibratory urticaria + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 488642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 + TELO2-related intellectual disability-neurodevelopmental disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 488647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647 + DDX41-related hematologic malignancy predisposition syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 488650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 + Distal myopathy, Tateyama type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 488618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 + Transketolase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 488627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 + Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 488632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 + TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 488635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 + Early-onset epilepsy-intellectual disability-brain anomalies syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 488265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 + Osteofibrous dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 488239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488239 + Acute macular neuroretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 488232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 + Split-foot malformation-mesoaxial polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 488333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333 + Autosomal dominant Charcot-Marie-Tooth disease type 2W + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 488280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280 + 14q32 duplication syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 488586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488586 + Congenital amyoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 488437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437 + SIX2-related frontonasal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 488434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 + Camptodactyly syndrome, Guadalajara type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 488613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 + Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 488594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594 + Autosomal recessive spastic paraplegia type 76 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 488197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 + Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 488168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 + Microcephaly-congenital cataract-psoriasiform dermatitis syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 488191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191 + Female infertility due to oocyte meiotic arrest + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 487796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 + Takenouchi-Kosaki syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 487814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 487809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809 + Pediatric collagenous gastritis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 487825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 + Pierpont syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 486955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486955 + Rare pediatric rheumatologic disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 31205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31205 + Rat-bite fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 31204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31204 + Nocardiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 31154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154 + Hypobetalipoproteinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 31202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31202 + Melioidosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 31150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 + Tangier disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 31153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153 + Hypoalphalipoproteinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 31043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 + Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 31112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 + Dermatofibrosarcoma protuberans + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 30924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 + Primary hypomagnesemia with secondary hypocalcemia + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 30925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 + Hereditary arginine vasopressin deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 476084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 + BVES-related limb-girdle muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 476096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 + Erythrokeratodermia-cardiomyopathy syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 476093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 + HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 471383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=471383 + Genetic lethal multiple congenital anomalies/dysmorphic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 474347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474347 + Rare congenital anomaly of ventricular septum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 + Congenital brain dysgenesis due to glutamine synthetase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279 + CANOMAD syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71281 + Rare central nervous system and retinal vascular disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 + Split hand-split foot-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272 + Sandifer syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273 + Renal nutcracker syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 71274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274 + Disseminated peritoneal leiomyomatosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 71275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 + Rh deficiency syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 71276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71276 + Silent sinus syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 71277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 + Classic glucose transporter type 1 deficiency syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71209 + Rare soft tissue tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 71212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 + Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 71211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71211 + Neuromyelitis optica spectrum disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 + Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 + Retinal capillary malformation + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 71198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71198 + Rare pulmonary hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 71203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71203 + Autoimmune thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 71202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71202 + Rare hemorrhagic disorder due to a constitutional platelet anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 558411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558411 + Idiopathic gastroparesis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 70591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70591 + Chronic thromboembolic pulmonary hypertension + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 70592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 + Transient predisposition to invasive pyogenic bacterial infection + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 70589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589 + Bronchopulmonary dysplasia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 70590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70590 + Infantile apnea + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 70595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 + Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 70596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596 + Congenital Epstein-Barr virus infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 70593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593 + Immunodeficiency due to selective anti-polysaccharide antibody deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 70594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 + Dopa-responsive dystonia due to sepiapterin reductase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 70578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578 + Adult acute respiratory distress syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 70573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70573 + Small cell lung cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 70568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568 + Post-transplant lymphoproliferative disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 70588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70588 + Meconium aspiration syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 70472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 + Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 70567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567 + Cholangiocarcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 557866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557866 + Rare disorder with Hirschsprung disease as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 70482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70482 + Carcinoma of esophagus + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 70476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476 + Vernal keratoconjunctivitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 70475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70475 + Radiation proctitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 69744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69744 + Circumscribed palmoplantar hypokeratosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 69745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69745 + Warty dyskeratoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 69735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 + Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 69736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736 + Bilateral acute depigmentation of the iris + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 69737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 + Bosley-Salih-Alorainy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 69739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 + Athabaskan brainstem dysgenesis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 69663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663 + Low phospholipid-associated cholelithiasis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 69665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665 + Intrahepatic cholestasis of pregnancy + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 69723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 + Tyrosinemia type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 69126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 + PAPA syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 69087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 + Naegeli-Franceschetti-Jadassohn syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 69125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 + Anonychia with flexural pigmentation + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 69088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 + Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 69083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 + Ectodermal dysplasia with natal teeth, Turnpenny type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 69082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 + Odonto-tricho-ungual-digito-palmar syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 69085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 + Limb-mammary syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 69084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 + Pure hair and nail ectodermal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 69077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69077 + Rhabdoid tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 69076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 + Familial renal glucosuria + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 69078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69078 + Liposarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 69061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061 + Idiopathic steroid-sensitive nephrotic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 69063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063 + Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 67048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 + 3-methylglutaconic aciduria type 4 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 69028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028 + Dysostosis with brachydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 67046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 + 3-methylglutaconic aciduria type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 67047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 + 3-methylglutaconic aciduria type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 67044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 + Thrombocytopenia with congenital dyserythropoietic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 67045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 + X-linked intellectual disability with isolated growth hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 67042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 + Late-onset retinal degeneration + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 67043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67043 + Amoebic keratitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 67039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039 + Segmental odontomaxillary dysplasia + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 67041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 + Hyaluronidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 67037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67037 + Squamous cell carcinoma of head and neck + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 67038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038 + B-cell chronic lymphocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 66662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66662 + Extracutaneous mastocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 67036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 + Autosomal dominant optic atrophy and cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 66661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66661 + Mast cell sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 66646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646 + Cutaneous mastocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 66637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 + Diaphanospondylodysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 66634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 + Dilated cardiomyopathy with ataxia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 66633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 + Sensorineural hearing loss-early graying-essential tremor syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 66631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 + CEDNIK syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 66630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630 + Congenital pseudoarthrosis of the clavicle + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 66629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 + Goldberg-Shprintzen megacolon syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 66628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 + Obesity due to congenital leptin deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 66627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66627 + Tenosynovial giant cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 66625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 + Cerebrooculonasal syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 66624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66624 + PANDAS + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 66529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66529 + Tako-Tsubo cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 66518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518 + Short fifth metacarpals-insulin resistance syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 65283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 + Timothy syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 65282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 + Carvajal syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 562639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639 + Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 65285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 + Lhermitte-Duclos disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 65284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 + Biotin-thiamine-responsive basal ganglia disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 65287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 + Beta-ureidopropionase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 65286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286 + 3q29 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 65681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 + Vaginal atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 65288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 + Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 65683 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 + Isolated focal cortical dysplasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 65682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 + Benign recurrent intrahepatic cholestasis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 65720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720 + Arthrogryposis-severe scoliosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 65684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65684 + Monomelic amyotrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 65748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 + Multiple self-healing squamous epithelioma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 65743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 + Autosomal dominant multiple pterygium syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 65759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 + Carpenter syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 65753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753 + Charcot-Marie-Tooth disease type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744 + IgG4-related thyroid disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 64745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745 + Pruritic urticarial papules and plaques of pregnancy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 64746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746 + Autosomal dominant Charcot-Marie-Tooth disease type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 + X-linked Charcot-Marie-Tooth disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 + Dejerine-Sottas syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749 + Charcot-Marie-Tooth disease type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 + Hereditary motor and sensory neuropathy type 5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 562509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 + Heme oxygenase-1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 64752 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752 + Hereditary sensory and autonomic neuropathy type 5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 + Spinocerebellar ataxia with axonal neuropathy type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 + Nevus comedonicus syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 562528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 + Congenital limbs-face contractures-hypotonia-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 64755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 + Becker nevus syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 562559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 + Anterior maxillary protrusion-strabismus-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 562538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 + Autosomal recessive extra-oral halitosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 562569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 + TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 64686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686 + Tolosa-Hunt syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 64542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542 + Acrofacial dysostosis, Kennedy-Teebi type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 64280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 + Childhood absence epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 64722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64722 + Granulomatous mastitis + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 64720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64720 + Leiomyosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 64694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64694 + Trench fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 64692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64692 + Bartonella bacilliformis infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 64739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739 + Ovarian hyperstimulation syndrome + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 64734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734 + Iridocorneal endothelial syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 64743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64743 + Hepatoportal sclerosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 64742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64742 + Pleuropulmonary blastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 64741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64741 + Pulmonary blastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 561854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 + FOXG1 syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 63269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 + Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 63259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259 + Iniencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 63260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 + Craniorachischisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 63442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 + Angel-shaped phalango-epiphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 63273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 + FLNC-related handgrip and calf weakness-distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 63275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63275 + Pemphigoid gestationis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 63454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454 + Pattern dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 63455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63455 + Paraneoplastic pemphigus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 63443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63443 + Rare epithelial tumor of stomach + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 63446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 + Acrocapitofemoral dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 63999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63999 + IgG4-related mediastinitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 63862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862 + Schisis association + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 60040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 + Megalencephaly-capillary malformation-polymicrogyria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 60039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60039 + Pudendal nerve entrapment syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 60041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041 + Congenital heart block + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 60032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60032 + Recurrent respiratory papillomatosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 60033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033 + Idiopathic bronchiectasis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 59303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 + Neonatal ichthyosis-sclerosing cholangitis syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 563954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563954 + Isolated congenital hypoglossia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 59305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305 + Gestational trophoblastic neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 563951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563951 + Isolated congenital aglossia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 59306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 + McLeod neuroacanthocytosis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 59298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59298 + Schilder disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 60015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 + Enlarged parietal foramina + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 564003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003 + Osteochondrosis of the metatarsal bone + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 60025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025 + Pulmonary alveolar microlithiasis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 563991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991 + Osteochondrosis of the tarsal bone + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 60026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60026 + Pulmonary nodular lymphoid hyperplasia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 564178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 + Primary hypomagnesemia-refractory seizures-intellectual disability syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 564127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564127 + Genetic nephrotic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 60030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 + Loeys-Dietz syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 59315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315 + Rhombencephalosynapsis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 60014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60014 + Argyria + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 57196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196 + Medial condensing osteitis of the clavicle + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 563690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563690 + Furuncular myiasis due to Cordylobia rodhaini + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 57146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57146 + Rare hepatic disease + + + + + 905 + Wilson disease + + + Preferential parent + + + + + + 205 + Crigler-Najjar syndrome + + + Preferential parent + + + + + + 446 + Neonatal hemochromatosis + + + Preferential parent + + + + + + 171 + Primary sclerosing cholangitis + + + Preferential parent + + + + + + 234 + Dubin-Johnson syndrome + + + Preferential parent + + + + + + 2312 + Transient familial neonatal hyperbilirubinemia + + + Preferential parent + + + + + + 131 + Budd-Chiari syndrome + + + Preferential parent + + + + + + 2137 + Autoimmune hepatitis + + + Preferential parent + + + + + + 186 + Primary biliary cholangitis + + + Preferential parent + + + + + + 3111 + Rotor syndrome + + + Preferential parent + + + + + + 172 + Progressive familial intrahepatic cholestasis + + + Preferential parent + + + + + + 2924 + Isolated polycystic liver disease + + + Preferential parent + + + + + + 890 + Hepatic veno-occlusive disease + + + Preferential parent + + + + + + 854 + Non-malignant and non-cirrhotic portal vein thrombosis + + + Preferential parent + + + + + + 386 + Hepatic cystic hamartoma + + + Preferential parent + + + + + + 35063 + Fulminant viral hepatitis + + + Preferential parent + + + + + + 48372 + Nodular regenerative hyperplasia of the liver + + + Preferential parent + + + + + + 53035 + Caroli disease + + + Preferential parent + + + + + + 59303 + Neonatal ichthyosis-sclerosing cholangitis syndrome + + + Preferential parent + + + + + + 64743 + Hepatoportal sclerosis + + + Preferential parent + + + + + + 65682 + Benign recurrent intrahepatic cholestasis + + + Preferential parent + + + + + + 69663 + Low phospholipid-associated cholelithiasis + + + Preferential parent + + + + + + 69665 + Intrahepatic cholestasis of pregnancy + + + Preferential parent + + + + + + 79095 + Congenital bile acid synthesis defect type 4 + + + Preferential parent + + + + + + 79234 + Crigler-Najjar syndrome type 1 + + + Preferential parent + + + + + + 79235 + Crigler-Najjar syndrome type 2 + + + Preferential parent + + + + + + 79301 + Congenital bile acid synthesis defect type 1 + + + Preferential parent + + + + + + 79302 + Congenital bile acid synthesis defect type 3 + + + Preferential parent + + + + + + 79303 + Congenital bile acid synthesis defect type 2 + + + Preferential parent + + + + + + 79304 + Progressive familial intrahepatic cholestasis type 2 + + + Preferential parent + + + + + + 79305 + Progressive familial intrahepatic cholestasis type 3 + + + Preferential parent + + + + + + 79306 + Progressive familial intrahepatic cholestasis type 1 + + + Preferential parent + + + + + + 90003 + Inflammatory pseudotumor of the liver + + + Preferential parent + + + + + + 90052 + Recurrent hepatitis C virus induced liver disease in liver transplant recipients + + + Preferential parent + + + + + + 90062 + Acute liver failure + + + Preferential parent + + + + + + 90073 + Hepatitis B reinfection following liver transplantation + + + Preferential parent + + + + + + 99960 + Benign recurrent intrahepatic cholestasis type 1 + + + Preferential parent + + + + + + 99961 + Benign recurrent intrahepatic cholestasis type 2 + + + Preferential parent + + + + + + 100035 + Solitary necrotic nodule of the liver + + + Preferential parent + + + + + + 101938 + Rare vascular liver disease + + + Preferential parent + + + + + + 101939 + Rare parenchymal liver disease + + + Preferential parent + + + + + + 101940 + Rare metabolic liver disease + + + Preferential parent + + + + + + 101941 + Rare biliary tract disease + + + Preferential parent + + + + + + 139507 + Dietary iron overload disease + + + Preferential parent + + + + + + 156601 + Rare genetic hepatic disease + + + Preferential parent + + + + + + 156604 + Genetic parenchymatous liver disease + + + Preferential parent + + + + + + 156607 + Genetic biliary tract disease + + + Preferential parent + + + + + + 168583 + Hereditary North American Indian childhood cirrhosis + + + Preferential parent + + + + + + 209919 + Idiopathic copper-associated cirrhosis + + + Preferential parent + + + + + + 217371 + Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins + + + Preferential parent + + + + + + 243367 + Acute fatty liver of pregnancy + + + Preferential parent + + + + + + 276066 + Bile acid CoA ligase deficiency and defective amidation + + + Preferential parent + + + + + + 276405 + Hyperbiliverdinemia + + + Preferential parent + + + + + + 284385 + Familial intrahepatic cholestasis + + + Preferential parent + + + + + + 300293 + Transient infantile hypertriglyceridemia and hepatosteatosis + + + Preferential parent + + + + + + 370088 + Acute infantile liver failure-multisystemic involvement syndrome + + + Preferential parent + + + + + + 391366 + Growth retardation-mild developmental delay-chronic hepatitis syndrome + + + Preferential parent + + + + + + 440987 + Isolated agenesis of gallbladder + + + Preferential parent + + + + + + 447764 + IgG4-related sclerosing cholangitis + + + Preferential parent + + + + + + 447771 + Sclerosing cholangitis + + + Preferential parent + + + + + + 447774 + Secondary sclerosing cholangitis + + + Preferential parent + + + + + + 464724 + Fever-associated acute infantile liver failure syndrome + + + Preferential parent + + + + + + 480476 + Progressive familial intrahepatic cholestasis type 5 + + + Preferential parent + + + + + + 480483 + Progressive familial intrahepatic cholestasis type 4 + + + Preferential parent + + + + + + 480491 + MYO5B-related progressive familial intrahepatic cholestasis + + + Preferential parent + + + + + + 480501 + Choledochal cyst + + + Preferential parent + + + + + + 480506 + Primary intrahepatic lithiasis + + + Preferential parent + + + + + + 480512 + Idiopathic ductopenia + + + Preferential parent + + + + + + 480520 + Caroli syndrome + + + Preferential parent + + + + + + 480556 + Isolated neonatal sclerosing cholangitis + + + Preferential parent + + + + + + 485426 + Isolated congenital hepatic fibrosis + + + Preferential parent + + + + + + 485631 + Congenital bile acid synthesis defect + + + Preferential parent + + + + + + 498345 + Biliary atresia and associated disorders + + + Preferential parent + + + + + + 498350 + Syndromic biliary atresia + + + Preferential parent + + + + + + 521219 + Mirizzi syndrome + + + Preferential parent + + + + + + 521432 + Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome + + + Preferential parent + + + + + + 555434 + Fibrohistiocytic inflammatory pseudotumor of the liver + + + Preferential parent + + + + + + 555437 + Lymphoplasmacytic inflammatory pseudotumor of the liver + + + Preferential parent + + + + + + 562639 + Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome + + + Preferential parent + + + + + + 563576 + Autoimmune hepatitis type 1 + + + Preferential parent + + + + + + 563581 + Autoimmune hepatitis type 2 + + + Preferential parent + + + + + + 563589 + Seronegative autoimmune hepatitis + + + Preferential parent + + + + + + 567983 + Parenteral nutrition-associated cholestasis + + + Preferential parent + + + + + + 596937 + Portosinusoidal vascular disease + + + Preferential parent + + + + + + 596941 + Incomplete septal cirrhosis + + + Preferential parent + + + + + + 647834 + SLC40A1-related hemochromatosis + + + Preferential parent + + + + + + 648562 + Ferroportin disease + + + Preferential parent + + + + + + 648569 + Non-HFE-related hemochromatosis + + + Preferential parent + + + + + + 648581 + Digenic hemochromatosis + + + Preferential parent + + + + + + 699068 + Fontan-associated liver disease + + + Preferential parent + + + + + + 563708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 + Syndromic congenital sodium diarrhea + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 57145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57145 + SUNCT syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 563684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563684 + Furuncular myiasis due to Dermatobia hominis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 563687 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563687 + Furuncular myiasis due to Cordylobia anthropophaga + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 56970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56970 + Human prion disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 563671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563671 + Mucinous cystadenoma of childhood + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 56425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56425 + Cold agglutinin disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 563676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563676 + Seromucinous cystadenoma of childhood + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 59181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 + Sorsby fundus dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 59135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 + Laing distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 58040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58040 + Osteoblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 58017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017 + Classic hairy cell leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 57782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782 + Mazabraud syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 55595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 + TNP03-related limb-girdle muscular dystrophy D2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 55596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 + HNRNPDL-related limb-girdle muscular dystrophy D3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 54595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 + Craniopharyngioma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 54368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54368 + Sarcocystosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 54370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370 + Primary membranoproliferative glomerulonephritis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 54272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272 + Hepatocellular adenoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 56304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 + Atelosteogenesis type II + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 563666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563666 + Serous cystadenoma of childhood + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 56305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 + Atelosteogenesis type III + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 563612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 + Isolated exencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 563609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 + Isolated anencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 56044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56044 + Carcinoma of gallbladder and extrahepatic biliary tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 563589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563589 + Seronegative autoimmune hepatitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 55880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880 + Chondrosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 563581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563581 + Autoimmune hepatitis type 2 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 55881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881 + Adamantinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 563576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563576 + Autoimmune hepatitis type 1 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 55654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 + Hypotrichosis simplex + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 55655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55655 + Pneumococcal meningitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 79217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79217 + Other metabolic disease with skin involvement + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215 + Oligosaccharidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214 + Disorder of biogenic amine metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 + Metabolic disease involving other neurotransmitter deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 565837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565837 + Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 565858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 + Craniosynostosis-microretrognathia-severe intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207 + Disorder of lysosomal amino acid transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 565788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 + Infantile inflammatory bowel disease with neurological involvement + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 79213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 + Mucopolysaccharidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212 + Mucolipidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 565899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 + POMGNT2-related limb-girdle muscular dystrophy R24 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 565909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 + Calpain-3-related limb-girdle muscular dystrophy D4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 + Hypoxanthine guanine phosphoribosyltransferase partial deficiency + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 79230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 + HJV or HAMP-related hemochromatosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 + Galactokinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 566067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566067 + CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 79234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 + Crigler-Najjar syndrome type 1 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 + Crigler-Najjar syndrome type 2 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224 + Disorder of purine or pyrimidine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225 + Sphingolipidosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226 + Sterol metabolism disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183 + Disorder of ketolysis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185 + Disorder of ornithine or proline metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187 + Disorder of peptide metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186 + Disorder of pentose phosphate metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 + Peroxisome biogenesis disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188 + Peroxisomal beta-oxidation disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175 + Disorder of gamma-aminobutyric acid metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174 + Disorder of fatty acid oxidation and ketone body metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177 + Gluconeogenesis disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179 + Disorder of glycerol metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178 + Glucose transport disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181 + Disorder of histidine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200 + Disorder of energy metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 565624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 + Combined oxidative phosphorylation defect type 39 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 565612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 + Primary triglyceride deposit cardiomyovasculopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 79201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201 + Glycogen storage disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 565779 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + + 90053 + Complications after hematopoietic stem cell transplantation + + + Preferential parent + + + + + + 306644 + Complication after organ transplantation + + + Preferential parent + + + + + + 506210 + Rare disorder potentially indicated for liver transplant + + + Preferential parent + + + + + + 506213 + Rare disorder potentially indicated for kidney transplant + + + Preferential parent + + + + + + 506216 + Rare disorder potentially indicated for bowel transplant + + + Preferential parent + + + + + + 506219 + Rare disorder potentially indicated for hematopoietic stem cell transplant + + + Preferential parent + + + + + + 506222 + Rare disorder potentially indicated for lung transplant + + + Preferential parent + + + + + + 506225 + Rare disorder potentially indicated for heart transplant + + + Preferential parent + + + + + 506207 + Rare disorder potentially indicated for transplant + + + + Preferential parent + + + + + + 565641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565641 + Primary desmosis coli + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 79204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204 + Lipid storage disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 565782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565782 + Methotrexate toxicity + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 79190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190 + Disorder of phenylalanin or tyrosine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191 + Disorder of purine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192 + Disorder of pyridoxine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193 + Disorder of pyrimidine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194 + Disorder of serine or glycine metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195 + Sterol biosynthesis disorder + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196 + Disorder of the gamma-glutamyl cycle + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197 + Disorder of branched-chain amino acid metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 + 2-methylbutyryl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 + Seizures-intellectual disability due to hydroxylysinuria syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 + Hydroxykynureninuria + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 + 2-aminoadipic 2-oxoadipic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153 + Idiopathic trachyonychia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 + Disseminated superficial actinic porokeratosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 + Acrokeratosis verruciformis of Hopf + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150 + Linear and whorled nevoid hypermelanosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149 + Dermochondrocorneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 79148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148 + Elastosis perforans serpiginosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147 + Familial reactive perforating collagenosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 + Familial progressive hyperpigmentation + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 + Dowling-Degos disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144 + Isolated congenital onychodysplasia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143 + Isolated congenital anonychia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 + Creatine deficiency syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173 + Disorder of methionine cycle and sulfur amino acid metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171 + Disorder of cobalamin metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168 + Disorder of bile acid synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169 + Disorder of neurotransmitter metabolism and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166 + Disorder of amino acid absorption and transport + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167 + Disorder of urea cycle metabolism and ammonia detoxification + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163 + Classic organic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79161 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161 + Disorder of carbohydrate metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158 + Cerebral organic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 + Isobutyryl-CoA dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 + Developmental malformations-deafness-dystonia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 566231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231 + Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 + Eiken syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 566243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243 + Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118 + Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 566393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566393 + Acute mast cell leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 79113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 + Mandibulofacial dysostosis-microcephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102 + Thyrotoxic periodic paralysis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105 + Myxofibrosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 79099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099 + Interstitial granulomatous dermatitis with arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 79098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79098 + Sympathetic ophthalmia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 79101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 + Hyperprolinemia type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 566192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192 + Congenital autosomal recessive small-platelet thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 79100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 + Atrophoderma vermiculata + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 + Congenital bile acid synthesis defect type 4 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 + Grange syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 566175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 + Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 79097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 + Folinic acid-responsive seizures + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 + Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138 + Bickerstaff brainstem encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139 + Japanese encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 79140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140 + Cutaneous neuroendocrine carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 79141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141 + Hereditary painful callosities + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 + DEND syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135 + Episodic ataxia type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136 + Episodic ataxia type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 + Generalized epilepsy-paroxysmal dyskinesia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 + Trichodysplasia-amelogenesis imperfecta syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133 + Focal facial dermal dysplasia type I + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 + Hepatic veno-occlusive disease-immunodeficiency syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 566396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566396 + Chronic mast cell leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 79126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126 + Acute interstitial pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 79127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127 + Respiratory bronchiolitis-interstitial lung disease syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 79128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128 + Lymphoid interstitial pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 77293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 + Chronic visceral acid sphingomyelinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 77295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 + Odontoleukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 77261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 + Gaucher disease type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 77292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 + Infantile neurovisceral acid sphingomyelinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 77298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 + Anophthalmia/microphthalmia-esophageal atresia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 77299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 + Microphthalmia-brain atrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 77296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296 + Morgagni-Stewart-Morel syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 77297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 + Majeed syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 567502 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 + B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 77300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 + Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 77301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 + Monosomy 9q22.3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 567550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550 + Idiopathic multidrug-resistant nephrotic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 77828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77828 + Genetic obesity + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 567548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548 + Idiopathic steroid-resistant nephrotic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 567546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546 + Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 567544 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544 + Idiopathic non-lupus full-house nephropathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 567556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567556 + Genetic systemic disease with glomerulopathy as a major feature + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 567558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567558 + Non-genetic systemic disease with glomerulopathy as a major feature + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 567552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567552 + Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 567554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567554 + Systemic disease with glomerulopathy as a major feature + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 77830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77830 + Rare genetic odontologic disease + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 567564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567564 + Nephrotic syndrome without extrarenal manifestations + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 79083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 + PPARG-related familial partial lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078 + IgG4-related dacryoadenitis and sialadenitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 567560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567560 + Systemic vasculitis associated with glomerulopathy + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 79076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 + Juvenile polyposis of infancy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 567562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567562 + Disorder with multisystemic involvement and glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 79062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062 + Disorder of amino acid and other organic acid metabolism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087 + Acquired partial lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086 + Acquired generalized lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 + AKT2-related familial partial lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 + Familial partial lipodystrophy, Köbberling type + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 567983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567983 + Parenteral nutrition-associated cholestasis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 568041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568041 + Primary lymphedema without systemic or visceral involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091 + Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088 + Localized lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 75327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 + North Carolina macular dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 75373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 + Progressive bifocal chorioretinal atrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 75374 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 + Bradyopsia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 75376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376 + Familial drusen + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 75377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 + Central areolar choroidal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 75378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378 + Oligocone trichromacy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 75381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381 + Cystoid macular dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 75382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382 + Oguchi disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 566847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847 + Aprosencephaly/atelencephaly spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 75389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 + Brain malformation-congenital heart disease-postaxial polydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 566841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841 + Liver adenomatosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 75391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391 + Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 566857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857 + Aprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 75392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 + Periodontal Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 566852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852 + Atelencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 75496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 + B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 75497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 + X-linked Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 566862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862 + Left isomerism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 75563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 + X-linked sideroblastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 566943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943 + Mueller-Weiss syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 75565 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75565 + Tropical endomyocardial fibrosis + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 75564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 + Acquired idiopathic sideroblastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 75567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75567 + Primary progressive freezing gait + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 75566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75566 + Loeffler endocarditis + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 75857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 + 6q terminal deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 75840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 + Ullrich congenital muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 77240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240 + Primary lymphedema + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 75858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 + MORM syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 77258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 + Trichorhinophalangeal syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 77260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 + Gaucher disease type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 77259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 + Gaucher disease type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 73271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271 + Bleeding diathesis due to a collagen receptor defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 73263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73263 + Zygomycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 73267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73267 + Non-24-hour sleep-wake syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 73256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256 + Central neurocytoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 73260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73260 + Paracoccidioidomycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 73246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 + Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 569821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 + Congenital primary lymphedema of Gordon + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 73423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73423 + Acute ackee fruit intoxication + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 569816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 + CELSR1-related late-onset primary lymphedema + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 73272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 + Growth delay due to insulin-like growth factor type 1 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 73273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 + Growth delay due to insulin-like growth factor I resistance + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 75326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326 + Familial isolated retinal arteriolar tortuosity + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 75325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 + Osteosclerosis-ichthyosis-premature ovarian failure syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 75249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 + Familial isolated restrictive cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 75234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 + Cholesteryl ester storage disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 75233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 + Wolman disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 75110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75110 + Myiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 568065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 + EPHB4-related lymphatic-related hydrops fetalis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 + Familial platelet disorder with associated myeloid malignancy + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 568062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 + PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 + Familial thrombocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 71505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505 + Cancer-associated retinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 568047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568047 + Disorder with multisystemic involvement and primary lymphedema + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 568044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568044 + Primary lymphedema with systemic or visceral involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 568056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 + Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 568051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 + GJC2-related late-onset primary lymphedema + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 + Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 71526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 + Obesity due to pro-opiomelanocortin deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 71528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 + Obesity due to prohormone convertase I deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 71529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 + Obesity due to melanocortin 4 receptor deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 569164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164 + Angiomatoid fibrous histiocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 71517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 + Rapid-onset dystonia-parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 + Benign paroxysmal torticollis of infancy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71519 + Psychogenic movement disorders + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 569274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 + Multiple mitochondrial dysfunctions syndrome type 5 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 569290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 + Multiple mitochondrial dysfunctions syndrome type 6 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 71864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71864 + Muscular channelopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 71859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71859 + Rare genetic neurological disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 569248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248 + Microcystic stromal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 73229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 + HANAC syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 73224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 + Kidney tubulopathy-dilated cardiomyopathy syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 73245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245 + Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 73230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 + Ossification anomalies-psychomotor developmental delay syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 73217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217 + Müllerian aplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 73014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014 + Intractable diarrhea of infancy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 73223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223 + Global developmental delay-osteopenia-ectodermal defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 40366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366 + Acitretin/etretinate embryopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 40923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923 + Eales disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 39812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812 + Graft versus host disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 530849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 + Familial apolipoprotein A5 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 39041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 + Omenn syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 530838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838 + KRT1-related diffuse nonepidermolytic keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 39044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39044 + Uveal melanoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 530792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792 + RELA fusion-positive ependymoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 38874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 + Dihydropyrimidinuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 37748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37748 + Schnitzler syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 530313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530313 + PIK3CA-related overgrowth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 530303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 + Progressive dementia with neuroserpin inclusion bodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 37612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 + Episodic ataxia type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 37559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37559 + Acquired kinky hair syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 530298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298 + Progressive myoclonic epilepsy with neuroserpin inclusion bodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 37553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 + Andersen-Tawil syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 37202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37202 + Interstitial cystitis + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 37042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 + Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 36913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36913 + Autoimmune hypoparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 36899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 + Myoclonus-dystonia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 68354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68354 + Rare sleep disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 68356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68356 + Leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 68346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68346 + Rare genetic skin disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 68347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68347 + Tumor of hematopoietic and lymphoid tissues + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 68341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68341 + Multiple congenital anomalies/dysmorphic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 68334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68334 + Rare hemorrhagic disorder due to a constitutional coagulation factors defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 68336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68336 + Rare genetic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 531151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151 + 9q21.13 microdeletion syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 68335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68335 + Rare chromosomal anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 68329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68329 + Rare maxillo-facial surgical disease + + + + + 141067 + Cervicofacial fibrochondroma + + + Preferential parent + + + + + + 210576 + Congenital temporomandibular joint ankylosis + + + Preferential parent + + + + + + 210581 + Temporomandibular joint anomaly + + + Preferential parent + + + + + + 306527 + Isolated hereditary congenital facial paralysis + + + Preferential parent + + + + + + 306530 + Congenital hereditary facial paralysis-variable hearing loss syndrome + + + Preferential parent + + + + + + 306553 + Myospherulosis + + + Preferential parent + + + + + + 357154 + Oral submucous fibrosis + + + Preferential parent + + + + + + 477781 + Primary condylar hyperplasia + + + Preferential parent + + + + + + 530983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 + Lamb-Shaffer syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 530995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995 + Mixed phenotype acute leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 41751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 + Bietti crystalline dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 42062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 + Iminoglycinuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35705 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 + Neurometabolic disorder due to serine deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 + Glutaric acidemia type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 + L-Arginine:glycine amidinotransferase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 + Glucose-galactose malabsorption + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 35737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 + Morning glory disc anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 35708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 + Aromatic L-amino acid decarboxylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35696 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696 + Mitochondrial disorder due to a defect in mitochondrial protein synthesis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 + Primary lateral sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 35701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 + 3-hydroxy-3-methylglutaryl-CoA synthase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 + Mitochondrial DNA depletion syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 + Nanophthalmos + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 35173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 + X-linked dominant chondrodysplasia punctata + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 35687 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687 + Erdheim-Chester disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 35686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35686 + Serpiginous choroiditis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 35664 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 + ALDH18A1-related De Barsy syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 + Coenzyme Q10 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 + Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 35107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 + Desmosterolosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 35099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 + Non-syndromic bicoronal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 35125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 + Epidermal nevus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 35122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 + Congenital sucrase-isomaltase deficiency + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 35121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121 + Lysosomal acid phosphatase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 36387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 + Genetic epilepsy with febrile seizure plus + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 36388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36388 + Paraneoplastic neurologic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 36397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36397 + Adiposis dolorosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 36412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 + Hypocomplementemic urticarial vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 36426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426 + Stevens-Johnson syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 36355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355 + Bleeding disorder due to P2Y12 defect + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 36367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 + Distal deletion 1q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 36383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 + COL4A1/2-related familial vascular leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 36386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 + Hereditary sensory and autonomic neuropathy type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 36234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36234 + Bacterial toxic-shock syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 36236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36236 + Staphylococcal scalded skin syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 36235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36235 + Staphylococcal scarlet fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 36238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36238 + Staphylococcal necrotizing pneumonia + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 36237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36237 + Bullous impetigo + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 36273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273 + Gastric linitis plastica + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 36258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258 + Buerger disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 35808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35808 + Malignant sex cord stromal tumor of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 35807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807 + Malignant germ cell tumor of ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 35878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 + Hyperinsulinism-hyperammonemia syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 35858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 + Imerslund-Gräsbeck syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 35909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 + Combined deficiency of factor V and factor VIII + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 35889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35889 + Acute opioid intoxication + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 36204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204 + Intestinal lymphangiectasia + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 35981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 + Polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 33572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 + 5-oxoprolinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 33543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543 + Kleine-Levin syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 33475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33475 + Meningococcal meningitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 33445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 + Neuroectodermal melanolysosomal disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 33408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33408 + Bullous lichen planus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 535458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 + Familial GPIHBP1 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 33402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402 + Pediatric hepatocellular carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 34217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 + Naxos disease + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 34149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149 + Autosomal dominant tubulointerstitial kidney disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 34145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34145 + Immunoglobulin A nephropathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 33577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33577 + Nodular non-suppurative panniculitis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 33574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 + Glutamate-cysteine ligase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 33573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 + Gamma-glutamyl transpeptidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 33110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110 + Autosomal non-syndromic agammaglobulinemia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 33111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 + Granulomatous slack skin + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 33108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 + Lethal multiple pterygium syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 33067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 + Metaphyseal chondrodysplasia, Jansen type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 33069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 + Dravet syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 33001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 + Lymphedema-distichiasis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 33355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 + Reticular dysgenesis + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 535453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 + Familial lipase maturation factor 1 deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 33364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 + Trichothiodystrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 33276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276 + Kaposi sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 33314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33314 + Jessner lymphocytic infiltration of the skin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 33208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33208 + Idiopathic hypersomnia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 33226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226 + Waldenström macroglobulinemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 35069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 + Infantile neuroaxonal dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 35093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 + Non-syndromic sagittal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 35078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078 + T-B+ severe combined immunodeficiency due to JAK3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 35063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35063 + Fulminant viral hepatitis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 35062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35062 + Severe disseminated cytomegalovirus infection in immunocompetent patients + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 34520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 + Congenital muscular dystrophy with integrin alpha-7 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 34514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 + Telethonin-related limb-girdle muscular dystrophy R7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 34515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 + FKRP-related limb-girdle muscular dystrophy R9 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 34516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516 + DNAJB6-related limb-girdle muscular dystrophy D1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 34587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 + Danon disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 34592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592 + Immunodeficiency by defective expression of MHC class I + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 34528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 + Autosomal dominant primary hypomagnesemia with hypocalciuria + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 34533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34533 + Corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 536391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536391 + RASopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 536516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 + Myopathic Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 536471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471 + Spondylodysplastic Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 536467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 + B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 536545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545 + Kyphoscoliotic Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 536532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 + Classical-like Ehlers-Danlos syndrome type 2 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 537072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072 + PLG-related hereditary angioedema with normal C1Inh + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 32960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 + Tumor necrosis factor receptor 1 associated periodic syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 52662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52662 + Rare teratologic disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 52530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 + Pseudo-von Willebrand disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 52688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688 + Myelodysplastic syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 52429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 + Branchiootic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 538096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538096 + Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 52503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 + X-linked creatine transporter deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 538101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538101 + Congenital axonal neuropathy with encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 538238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538238 + Neurological channelopathy of the central nervous system due to a genetic chloride channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 52430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 + Inclusion body myopathy with Paget disease of bone and frontotemporal dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 52416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416 + Mantle cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 52427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 + Retinitis punctata albescens + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 52417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417 + MALT lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 52056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 + Ulnar/fibula ray defect-brachydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 52055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 + Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 52368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 + Mohr-Tranebjaerg syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 53271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 + Muenke syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 53296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296 + Familial cutaneous collagenoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 53347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 + Brody myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 52994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52994 + Orbital leiomyoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 53035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 + Caroli disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 52759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52759 + Vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 52901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 + Isolated follicle stimulating hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 53690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 + Congenital lactase deficiency + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 53689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 + Congenital chloride diarrhea + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 538863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863 + Classic pyoderma gangrenosum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 538756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756 + Familial multiple discoid fibromas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 538574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 + Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 53583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 + Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 53540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 + Goldmann-Favre syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 53372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372 + Hereditary geniospasm + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 53351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 + X-linked dystonia-parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 54260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 + Left ventricular noncompaction + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 54247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 + Posterior cortical atrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 538934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 + X-linked lymphoproliferative disease due to XIAP deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 54251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251 + Aseptic abscess syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 538931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931 + X-linked lymphoproliferative disease due to SAP deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 54057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057 + Thrombotic thrombocytopenic purpura + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 53739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739 + Distal hereditary motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 54028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028 + Plummer-Vinson syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 53721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 + Spinal arteriovenous metameric syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 53698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698 + Myosin storage myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 53715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 + Familial tumoral calcinosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 53696 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696 + Arthrogryposis-anterior horn cell disease syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 538872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872 + Vegetative pyoderma gangrenosum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 53697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 + Gnathodiaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 53691 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 + Congenital cornea plana + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 538869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869 + Bullous pyoderma gangrenosum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 538866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866 + Pustular pyoderma gangrenosum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 53693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 + GRACILE syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 48818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 + Aceruloplasminemia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 48736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736 + Embryonal carcinoma of the central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 49041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49041 + IgG4-related retroperitoneal fibrosis + + + + 165711 + Rare abdominal surgical disease + + + + Preferential parent + + + + + + 48918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48918 + Focal myositis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 49382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 + Achromatopsia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 49042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042 + Dentinogenesis imperfecta + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 538958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 + EBV-induced lymphoproliferative disease due to CD70 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 48431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 + Congenital cataracts-facial dysmorphism-neuropathy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 538963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 + Combined immunodeficiency due to ITK deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 48471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 + Lissencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 48435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48435 + Postinfectious vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 48686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686 + Primary effusion lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 48652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 + Phelan-McDermid syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 50809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809 + Talo-patello-scaphoid osteolysis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 50810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 + Microlissencephaly-micromelia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 50811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 + Lipodystrophy-intellectual disability-deafness syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 50812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 + Zellweger-like syndrome without peroxisomal anomalies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 50814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 + Craniolenticulosutural dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 50815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 + Branchiogenic deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 49566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 + Acquired purpura fulminans + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 49804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49804 + Lichen amyloidosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 49827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 + Thiamine-responsive megaloblastic anemia syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 50251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50251 + Pleural mesothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 50945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 + Blomstrand lethal chondrodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 50944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 + Schöpf-Schulz-Passarge syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 51084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084 + Torsade-de-pointes syndrome with short coupling interval + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 51083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 + Congenital short QT syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 50839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50839 + Cat-scratch disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 50943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 + Keratolytic winter erythema + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 50942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 + Striate palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 50918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50918 + Kikuchi-Fujimoto disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 52054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054 + Craniosynostosis-intracranial calcifications syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 52022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 + Potocki-Shaffer syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 52047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047 + Braddock syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 51577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 + Cobblestone lissencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 51608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608 + Generalized arterial calcification of infancy + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 51188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 + Ethylmalonic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 541423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 + Growth delay-intellectual disability-hepatopathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 51208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 + Formiminoglutamic aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 541507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507 + Anomalous origin of coronary artery from the pulmonary artery + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 541478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541478 + Anomalous aortic origin of coronary artery + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 51636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 + WHIM syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 541454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541454 + Anomalous aortic origin of the right coronary artery + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 51890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51890 + Anterior cutaneous nerve entrapment syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 541443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541443 + Anomalous aortic origin of the left coronary artery + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 542306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 + GNB5-related intellectual disability-cardiac arrhythmia syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 542301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 + EBV-induced lymphoproliferative disease due to CARMIL2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 542310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310 + Leukoencephalopathy with calcifications and cysts + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 68419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68419 + Rare vascular anomaly + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 42642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642 + PFAPA syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 42665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 + Tietz syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 542323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542323 + CAR T cell therapy-associated cytokine release syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 43117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43117 + Acute tricyclic antidepressant poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 542585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 + Auditory neuropathy-optic atrophy syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 43116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43116 + Serotonin syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 542592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592 + Necrobiosis lipoidica + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 43393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393 + Lambert-Eaton myasthenic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 43119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43119 + Acute poisoning by drugs with membrane-stabilizing effect + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 542643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643 + Livedoid vasculopathy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 42775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 + PHACE syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 42738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738 + Severe congenital neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 43115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 + Hereditary myopathy with lactic acidosis due to ISCU deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 542568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 + Quadricuspid aortic valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 45448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 + Miyoshi myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 543470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 + Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 45453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45453 + Incessant infant ventricular tachycardia + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 45452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45452 + Idiopathic neonatal atrial flutter + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 542657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657 + Isolated hyperchlorhidrosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 542822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542822 + Anomaly of the coronary ostia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 44890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 + Gastrointestinal stromal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 45358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 + Congenital fibrosis of extraocular muscles + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 46487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46487 + Epidermolysis bullosa acquisita + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 544254 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 + SYNGAP1-related developmental and epileptic encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 46488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46488 + Linear IgA dermatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 46485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46485 + Superficial pemphigus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 46486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486 + Mucous membrane pemphigoid + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 46348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 + Paroxysmal extreme pain disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 46484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46484 + Oligodendroglial tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 46059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 + Lathosterolosis + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 46135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135 + Primary central nervous system lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 544458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544458 + Hemolytic uremic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 47044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044 + Hereditary papillary renal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 46724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 + Brain arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 46627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 + Char syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 46532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 + Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 48372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372 + Nodular regenerative hyperplasia of the liver + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 48162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48162 + Lewis-Sumner syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 544493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493 + Streptococcus pneumoniae-associated hemolytic uremic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 48104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104 + Pyoderma gangrenosum + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 544503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 + RNF13-related severe early-onset epileptic encephalopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 47612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47612 + Felty syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 544482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482 + Infection-related hemolytic uremic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 47159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159 + Proximal renal tubular acidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 544488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 + Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 544469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 + PRUNE1-related neurological syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 544472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 + Atypical hemolytic uremic syndrome with complement gene abnormality + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 47045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 + Familial cold urticaria + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 544628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 + Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 544590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544590 + Collagen-related glomerular basement membrane disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 544602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602 + Congenital myopathy with reduced type 2 muscle fibers + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 48377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48377 + Subcorneal pustular dermatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 544578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 + Congenital primary megaureter, refluxing and obstructed form + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 68361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68361 + Rare deafness + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 68362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68362 + Rare vascular disease + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 68363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68363 + Rare dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 555402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 + NAD(P)HX dehydratase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 68364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364 + Hemoglobinopathy + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 555434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555434 + Fibrohistiocytic inflammatory pseudotumor of the liver + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 555407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 + NAD(P)HX epimerase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 68366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366 + Lysosomal disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 68367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367 + Rare inborn errors of metabolism + + + + + 61 + Alpha-mannosidosis + + + Preferential parent + + + + + + 93 + Aspartylglucosaminuria + + + Preferential parent + + + + + + 585 + Multiple sulfatase deficiency + + + Preferential parent + + + + + + 118 + Beta-mannosidosis + + + Preferential parent + + + + + + 213 + Cystinosis + + + Preferential parent + + + + + + 333 + Farber disease + + + Preferential parent + + + + + + 349 + Fucosidosis + + + Preferential parent + + + + + + 365 + Glycogen storage disease due to acid maltase deficiency + + + Preferential parent + + + + + + 366 + Glycogen storage disease due to glycogen debranching enzyme deficiency + + + Preferential parent + + + + + + 367 + Glycogen storage disease due to glycogen branching enzyme deficiency + + + Preferential parent + + + + + + 368 + Glycogen storage disease due to muscle glycogen phosphorylase deficiency + + + Preferential parent + + + + + + 369 + Glycogen storage disease due to liver glycogen phosphorylase deficiency + + + Preferential parent + + + + + + 371 + Glycogen storage disease due to muscle phosphofructokinase deficiency + + + Preferential parent + + + + + + 487 + Krabbe disease + + + Preferential parent + + + + + + 583 + Mucopolysaccharidosis type 6 + + + Preferential parent + + + + + + 812 + Sialidosis type 1 + + + Preferential parent + + + + + + 576 + Mucolipidosis type II + + + Preferential parent + + + + + + 577 + Mucolipidosis type III + + + Preferential parent + + + + + + 578 + Mucolipidosis type IV + + + Preferential parent + + + + + + 796 + Sandhoff disease + + + Preferential parent + + + + + + 584 + Mucopolysaccharidosis type 7 + + + Preferential parent + + + + + + 480 + Kearns-Sayre syndrome + + + Preferential parent + + + + + + 324 + Fabry disease + + + Preferential parent + + + + + + 580 + Mucopolysaccharidosis type 2 + + + Preferential parent + + + + + + 579 + Mucopolysaccharidosis type 1 + + + Preferential parent + + + + + + 664 + Ornithine transcarbamylase deficiency + + + Preferential parent + + + + + + 394 + Homocystinuria due to cystathionine beta-synthase deficiency + + + Preferential parent + + + + + + 699 + Pearson syndrome + + + Preferential parent + + + + + + 912 + Zellweger syndrome + + + Preferential parent + + + + + + 2443 + Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies + + + Preferential parent + + + + + + 565 + Menkes disease + + + Preferential parent + + + + + + 868 + Triose phosphate-isomerase deficiency + + + Preferential parent + + + + + + 352 + Galactosemia + + + Preferential parent + + + + + + 370 + Glycogen storage disease due to phosphorylase kinase deficiency + + + Preferential parent + + + + + + 2609 + Isolated complex I deficiency + + + Preferential parent + + + + + + 33 + Isovaleric acidemia + + + Preferential parent + + + + + + 22 + Succinic semialdehyde dehydrogenase deficiency + + + Preferential parent + + + + + + 29 + Mevalonic aciduria + + + Preferential parent + + + + + + 30 + Hereditary orotic aciduria + + + Preferential parent + + + + + + 44 + Neonatal adrenoleukodystrophy + + + Preferential parent + + + + + + 56 + Alkaptonuria + + + Preferential parent + + + + + + 90 + Argininemia + + + Preferential parent + + + + + + 1369 + Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome + + + Preferential parent + + + + + + 226 + Dihydropteridine reductase deficiency + + + Preferential parent + + + + + + 45 + Adenosine monophosphate deaminase deficiency + + + Preferential parent + + + + + + 23 + Argininosuccinic aciduria + + + Preferential parent + + + + + + 147 + Carbamoyl-phosphate synthetase 1 deficiency + + + Preferential parent + + + + + + 148 + Multiple carboxylase deficiency + + + Preferential parent + + + + + + 408 + Isolated glycerol kinase deficiency + + + Preferential parent + + + + + + 395 + Homocystinuria due to methylene tetrahydrofolate reductase deficiency + + + Preferential parent + + + + + + 765 + Pyruvate dehydrogenase deficiency + + + Preferential parent + + + + + + 833 + Encephalopathy due to sulfite oxidase deficiency + + + Preferential parent + + + + + + 1933 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria + + + Preferential parent + + + + + + 351 + Galactosialidosis + + + Preferential parent + + + + + + 2116 + Hartnup disease + + + Preferential parent + + + + + + 2118 + Hawkinsinuria + + + Preferential parent + + + + + + 469 + Hereditary fructose intolerance + + + Preferential parent + + + + + + 506 + Leigh syndrome + + + Preferential parent + + + + + + 2971 + Peroxisomal acyl-CoA oxidase deficiency + + + Preferential parent + + + + + + 834 + Free sialic acid storage disease + + + Preferential parent + + + + + + 909 + Cerebrotendinous xanthomatosis + + + Preferential parent + + + + + + 716 + Phenylketonuria + + + Preferential parent + + + + + + 354 + GM1 gangliosidosis + + + Preferential parent + + + + + + 355 + Gaucher disease + + + Preferential parent + + + + + + 364 + Glycogen storage disease due to glucose-6-phosphatase deficiency + + + Preferential parent + + + + + + 581 + Mucopolysaccharidosis type 3 + + + Preferential parent + + + + + + 738 + Porphyria + + + Preferential parent + + + + + + 3137 + Alpha-N-acetylgalactosaminidase deficiency + + + Preferential parent + + + + + + 348 + Fructose-1,6-bisphosphatase deficiency + + + Preferential parent + + + + + + 715 + Glycogen storage disease due to muscle phosphorylase kinase deficiency + + + Preferential parent + + + + + + 511 + Maple syrup urine disease + + + Preferential parent + + + + + + 26 + Methylmalonic acidemia with homocystinuria + + + Preferential parent + + + + + + 134 + Beta-ketothiolase deficiency + + + Preferential parent + + + + + + 57 + Glycogen storage disease due to aldolase A deficiency + + + Preferential parent + + + + + + 713 + Glycogen storage disease due to phosphoglycerate kinase 1 deficiency + + + Preferential parent + + + + + + 43 + X-linked adrenoleukodystrophy + + + Preferential parent + + + + + + 187 + Citrullinemia + + + Preferential parent + + + + + + 2882 + Sitosterolemia + + + Preferential parent + + + + + + 3166 + Sialuria + + + Preferential parent + + + + + + 415 + Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome + + + Preferential parent + + + + + + 13 + 6-pyruvoyl-tetrahydropterin synthase deficiency + + + Preferential parent + + + + + + 3129 + Sarcosinemia + + + Preferential parent + + + + + + 1675 + Dihydropyrimidine dehydrogenase deficiency + + + Preferential parent + + + + + + 17 + Fatal infantile lactic acidosis with methylmalonic aciduria + + + Preferential parent + + + + + + 2102 + GTP cyclohydrolase I deficiency + + + Preferential parent + + + + + + 926 + Acatalasemia + + + Preferential parent + + + + + + 646 + Niemann-Pick disease type C + + + Preferential parent + + + + + + 582 + Mucopolysaccharidosis type 4 + + + Preferential parent + + + + + + 845 + Tay-Sachs disease + + + Preferential parent + + + + + + 157 + Carnitine palmitoyltransferase II deficiency + + + Preferential parent + + + + + + 111 + Barth syndrome + + + Preferential parent + + + + + + 2597 + Mitochondrial myopathy-lactic acidosis-deafness syndrome + + + Preferential parent + + + + + + 2598 + Mitochondrial myopathy and sideroblastic anemia + + + Preferential parent + + + + + + 156 + Carnitine palmitoyl transferase 1A deficiency + + + Preferential parent + + + + + + 31 + Oxoglutaric aciduria + + + Preferential parent + + + + + + 939 + 3-hydroxyisobutyric aciduria + + + Preferential parent + + + + + + 27 + Vitamin B12-unresponsive methylmalonic acidemia + + + Preferential parent + + + + + + 1035 + Beta-mercaptolactate cysteine disulfiduria + + + Preferential parent + + + + + + 1361 + Carnosinase deficiency + + + Preferential parent + + + + + + 1551 + Familial benign copper deficiency + + + Preferential parent + + + + + + 382 + Guanidinoacetate methyltransferase deficiency + + + Preferential parent + + + + + + 742 + Prolidase deficiency + + + Preferential parent + + + + + + 726 + Alpers-Huttenlocher syndrome + + + Preferential parent + + + + + + 2072 + Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome + + + Preferential parent + + + + + + 2158 + Histidinuria-renal tubular defect syndrome + + + Preferential parent + + + + + + 2169 + Methylcobalamin deficiency type cblE + + + Preferential parent + + + + + + 2224 + Hypertryptophanemia + + + Preferential parent + + + + + + 165 + Neutral lipid storage disease + + + Preferential parent + + + + + + 2962 + De Barsy syndrome + + + Preferential parent + + + + + + 3057 + Monoamine oxidase A deficiency + + + Preferential parent + + + + + + 3222 + Phosphoribosylpyrophosphate synthetase superactivity + + + Preferential parent + + + + + + 28 + Vitamin B12-responsive methylmalonic acidemia + + + Preferential parent + + + + + + 2089 + Glycogen storage disease due to hepatic glycogen synthase deficiency + + + Preferential parent + + + + + + 746 + Mitochondrial trifunctional protein deficiency + + + Preferential parent + + + + + + 943 + Malonic aciduria + + + Preferential parent + + + + + + 20 + 3-hydroxy-3-methylglutaric aciduria + + + Preferential parent + + + + + + 6 + 3-methylcrotonyl-CoA carboxylase deficiency + + + Preferential parent + + + + + + 832 + Succinyl-CoA:3-oxoacid CoA transferase deficiency + + + Preferential parent + + + + + + 2056 + Essential fructosuria + + + Preferential parent + + + + + + 158 + Systemic primary carnitine deficiency + + + Preferential parent + + + + + + 159 + Carnitine-acylcarnitine translocase deficiency + + + Preferential parent + + + + + + 2170 + Methylcobalamin deficiency type cblG + + + Preferential parent + + + + + + 2203 + Hyperlysinemia + + + Preferential parent + + + + + + 3124 + Saccharopinuria + + + Preferential parent + + + + + + 2157 + Histidinemia + + + Preferential parent + + + + + + 2195 + Dicarboxylic aminoaciduria + + + Preferential parent + + + + + + 2967 + Transcobalamin I deficiency + + + Preferential parent + + + + + + 941 + D-glyceric aciduria + + + Preferential parent + + + + + + 19 + 2-hydroxyglutaric aciduria + + + Preferential parent + + + + + + 2843 + Pentosuria + + + Preferential parent + + + + + + 212 + Cystathioninuria + + + Preferential parent + + + + + + 470 + Lysinuric protein intolerance + + + Preferential parent + + + + + + 622 + Homocystinuria without methylmalonic aciduria + + + Preferential parent + + + + + + 927 + Hyperammonemia due to N-acetylglutamate synthase deficiency + + + Preferential parent + + + + + + 3402 + Transient tyrosinemia of the newborn + + + Preferential parent + + + + + + 2880 + Phosphoenolpyruvate carboxykinase deficiency + + + Preferential parent + + + + + + 24 + Fumaric aciduria + + + Preferential parent + + + + + + 3208 + Isolated succinate-CoQ reductase deficiency + + + Preferential parent + + + + + + 1460 + Isolated complex III deficiency + + + Preferential parent + + + + + + 1561 + Fatal infantile cytochrome C oxidase deficiency + + + Preferential parent + + + + + + 1578 + Pterin-4 alpha-carbinolamine dehydratase deficiency + + + Preferential parent + + + + + + 882 + Tyrosinemia type 1 + + + Preferential parent + + + + + + 2088 + Fanconi-Bickel syndrome + + + Preferential parent + + + + + + 137 + Congenital disorder of glycosylation + + + Preferential parent + + + + + + 5 + Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 35 + Propionic acidemia + + + Preferential parent + + + + + + 663 + Mitochondrial DNA-related progressive external ophthalmoplegia + + + Preferential parent + + + + + + 25 + Glutaryl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 42 + Medium chain acyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 2364 + Glycogen storage disease due to lactate dehydrogenase deficiency + + + Preferential parent + + + + + + 2066 + Gamma-aminobutyric acid transaminase deficiency + + + Preferential parent + + + + + + 300 + Bifunctional enzyme deficiency + + + Preferential parent + + + + + + 132 + Hereditary butyrylcholinesterase deficiency + + + Preferential parent + + + + + + 419 + Hyperprolinemia type 1 + + + Preferential parent + + + + + + 1194 + TMEM70-related mitochondrial encephalo-cardio-myopathy + + + Preferential parent + + + + + + 772 + Infantile Refsum disease + + + Preferential parent + + + + + + 2394 + Pyruvate dehydrogenase E3 deficiency + + + Preferential parent + + + + + + 198 + Occipital horn syndrome + + + Preferential parent + + + + + + 3008 + Pyruvate carboxylase deficiency + + + Preferential parent + + + + + + 298 + Mitochondrial neurogastrointestinal encephalomyopathy + + + Preferential parent + + + + + + 123 + Björnstad syndrome + + + Preferential parent + + + + + + 230 + Dopamine beta-hydroxylase deficiency + + + Preferential parent + + + + + + 26791 + Multiple acyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 26792 + Short chain acyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 26793 + Very long chain acyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 28378 + Tyrosinemia type 2 + + + Preferential parent + + + + + + 33572 + 5-oxoprolinase deficiency + + + Preferential parent + + + + + + 33573 + Gamma-glutamyl transpeptidase deficiency + + + Preferential parent + + + + + + 34587 + Danon disease + + + Preferential parent + + + + + + 35121 + Lysosomal acid phosphatase deficiency + + + Preferential parent + + + + + + 35656 + Coenzyme Q10 deficiency + + + Preferential parent + + + + + + 35664 + ALDH18A1-related De Barsy syndrome + + + Preferential parent + + + + + + 35696 + Mitochondrial disorder due to a defect in mitochondrial protein synthesis + + + Preferential parent + + + + + + 35698 + Mitochondrial DNA depletion syndrome + + + Preferential parent + + + + + + 35701 + 3-hydroxy-3-methylglutaryl-CoA synthase deficiency + + + Preferential parent + + + + + + 35704 + L-Arginine:glycine amidinotransferase deficiency + + + Preferential parent + + + + + + 35705 + Neurometabolic disorder due to serine deficiency + + + Preferential parent + + + + + + 35706 + Glutaric acidemia type 3 + + + Preferential parent + + + + + + 35708 + Aromatic L-amino acid decarboxylase deficiency + + + Preferential parent + + + + + + 35878 + Hyperinsulinism-hyperammonemia syndrome + + + Preferential parent + + + + + + 38874 + Dihydropyrimidinuria + + + Preferential parent + + + + + + 42062 + Iminoglycinuria + + + Preferential parent + + + + + + 68366 + Lysosomal disease + + + Preferential parent + + + + + + 68373 + Peroxisomal disease + + + Preferential parent + + + + + + 68380 + Mitochondrial disease + + + Preferential parent + + + + + + 68385 + Neurometabolic disease + + + Preferential parent + + + + + + 43115 + Hereditary myopathy with lactic acidosis due to ISCU deficiency + + + Preferential parent + + + + + + 46059 + Lathosterolosis + + + Preferential parent + + + + + + 51208 + Formiminoglutamic aciduria + + + Preferential parent + + + + + + 52503 + X-linked creatine transporter deficiency + + + Preferential parent + + + + + + 53693 + GRACILE syndrome + + + Preferential parent + + + + + + 65287 + Beta-ureidopropionase deficiency + + + Preferential parent + + + + + + 66634 + Dilated cardiomyopathy with ataxia + + + Preferential parent + + + + + + 67041 + Hyaluronidase deficiency + + + Preferential parent + + + + + + 67046 + 3-methylglutaconic aciduria type 1 + + + Preferential parent + + + + + + 67047 + 3-methylglutaconic aciduria type 3 + + + Preferential parent + + + + + + 67048 + 3-methylglutaconic aciduria type 4 + + + Preferential parent + + + + + + 69723 + Tyrosinemia type 3 + + + Preferential parent + + + + + + 70472 + Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type + + + Preferential parent + + + + + + 71212 + Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 75233 + Wolman disease + + + Preferential parent + + + + + + 75234 + Cholesteryl ester storage disease + + + Preferential parent + + + + + + 77259 + Gaucher disease type 1 + + + Preferential parent + + + + + + 77260 + Gaucher disease type 2 + + + Preferential parent + + + + + + 77261 + Gaucher disease type 3 + + + Preferential parent + + + + + + 77292 + Infantile neurovisceral acid sphingomyelinase deficiency + + + Preferential parent + + + + + + 77293 + Chronic visceral acid sphingomyelinase deficiency + + + Preferential parent + + + + + + 79062 + Disorder of amino acid and other organic acid metabolism + + + Preferential parent + + + + + + 79101 + Hyperprolinemia type 2 + + + Preferential parent + + + + + + 79154 + 2-aminoadipic 2-oxoadipic aciduria + + + Preferential parent + + + + + + 79157 + 2-methylbutyryl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 79158 + Cerebral organic aciduria + + + Preferential parent + + + + + + 79159 + Isobutyryl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 79161 + Disorder of carbohydrate metabolism + + + Preferential parent + + + + + + 79163 + Classic organic aciduria + + + Preferential parent + + + + + + 79166 + Disorder of amino acid absorption and transport + + + Preferential parent + + + + + + 79167 + Disorder of urea cycle metabolism and ammonia detoxification + + + Preferential parent + + + + + + 79168 + Disorder of bile acid synthesis + + + Preferential parent + + + + + + 79169 + Disorder of neurotransmitter metabolism and transport + + + Preferential parent + + + + + + 79171 + Disorder of cobalamin metabolism and transport + + + Preferential parent + + + + + + 79172 + Creatine deficiency syndrome + + + Preferential parent + + + + + + 79173 + Disorder of methionine cycle and sulfur amino acid metabolism + + + Preferential parent + + + + + + 79174 + Disorder of fatty acid oxidation and ketone body metabolism + + + Preferential parent + + + + + + 79175 + Disorder of gamma-aminobutyric acid metabolism + + + Preferential parent + + + + + + 79177 + Gluconeogenesis disorder + + + Preferential parent + + + + + + 79178 + Glucose transport disorder + + + Preferential parent + + + + + + 79179 + Disorder of glycerol metabolism + + + Preferential parent + + + + + + 79181 + Disorder of histidine metabolism + + + Preferential parent + + + + + + 79183 + Disorder of ketolysis + + + Preferential parent + + + + + + 79185 + Disorder of ornithine or proline metabolism + + + Preferential parent + + + + + + 79186 + Disorder of pentose phosphate metabolism + + + Preferential parent + + + + + + 79187 + Disorder of peptide metabolism + + + Preferential parent + + + + + + 79188 + Peroxisomal beta-oxidation disorder + + + Preferential parent + + + + + + 79189 + Peroxisome biogenesis disorder + + + Preferential parent + + + + + + 79190 + Disorder of phenylalanin or tyrosine metabolism + + + Preferential parent + + + + + + 79191 + Disorder of purine metabolism + + + Preferential parent + + + + + + 79192 + Disorder of pyridoxine metabolism + + + Preferential parent + + + + + + 79193 + Disorder of pyrimidine metabolism + + + Preferential parent + + + + + + 79194 + Disorder of serine or glycine metabolism + + + Preferential parent + + + + + + 79195 + Sterol biosynthesis disorder + + + Preferential parent + + + + + + 79196 + Disorder of the gamma-glutamyl cycle + + + Preferential parent + + + + + + 79197 + Disorder of branched-chain amino acid metabolism + + + Preferential parent + + + + + + 79200 + Disorder of energy metabolism + + + Preferential parent + + + + + + 79201 + Glycogen storage disease + + + Preferential parent + + + + + + 79204 + Lipid storage disease + + + Preferential parent + + + + + + 79207 + Disorder of lysosomal amino acid transport + + + Preferential parent + + + + + + 79212 + Mucolipidosis + + + Preferential parent + + + + + + 79213 + Mucopolysaccharidosis + + + Preferential parent + + + + + + 79214 + Disorder of biogenic amine metabolism and transport + + + Preferential parent + + + + + + 79215 + Oligosaccharidosis + + + Preferential parent + + + + + + 79217 + Other metabolic disease with skin involvement + + + Preferential parent + + + + + + 79219 + Metabolic disease involving other neurotransmitter deficiency + + + Preferential parent + + + + + + 79224 + Disorder of purine or pyrimidine metabolism + + + Preferential parent + + + + + + 79225 + Sphingolipidosis + + + Preferential parent + + + + + + 79226 + Sterol metabolism disorder + + + Preferential parent + + + + + + 79230 + HJV or HAMP-related hemochromatosis + + + Preferential parent + + + + + + 79237 + Galactokinase deficiency + + + Preferential parent + + + + + + 79238 + Galactose epimerase deficiency + + + Preferential parent + + + + + + 79239 + Classic galactosemia + + + Preferential parent + + + + + + 79240 + Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency + + + Preferential parent + + + + + + 79241 + Biotinidase deficiency + + + Preferential parent + + + + + + 79242 + Holocarboxylase synthetase deficiency + + + Preferential parent + + + + + + 79243 + Pyruvate dehydrogenase E1-alpha deficiency + + + Preferential parent + + + + + + 79244 + Pyruvate dehydrogenase E2 deficiency + + + Preferential parent + + + + + + 79246 + Pyruvate dehydrogenase phosphatase deficiency + + + Preferential parent + + + + + + 79255 + GM1 gangliosidosis type 1 + + + Preferential parent + + + + + + 79256 + GM1 gangliosidosis type 2 + + + Preferential parent + + + + + + 79257 + GM1 gangliosidosis type 3 + + + Preferential parent + + + + + + 79258 + Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia + + + Preferential parent + + + + + + 79259 + Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib + + + Preferential parent + + + + + + 79269 + Sanfilippo syndrome type A + + + Preferential parent + + + + + + 79270 + Sanfilippo syndrome type B + + + Preferential parent + + + + + + 79271 + Sanfilippo syndrome type C + + + Preferential parent + + + + + + 79272 + Sanfilippo syndrome type D + + + Preferential parent + + + + + + 79273 + Hereditary coproporphyria + + + Preferential parent + + + + + + 79276 + Acute intermittent porphyria + + + Preferential parent + + + + + + 79277 + Congenital erythropoietic porphyria + + + Preferential parent + + + + + + 79278 + Autosomal erythropoietic protoporphyria + + + Preferential parent + + + + + + 79279 + Alpha-N-acetylgalactosaminidase deficiency type 1 + + + Preferential parent + + + + + + 79280 + Alpha-N-acetylgalactosaminidase deficiency type 2 + + + Preferential parent + + + + + + 79281 + Alpha-N-acetylgalactosaminidase deficiency type 3 + + + Preferential parent + + + + + + 79282 + Methylmalonic acidemia with homocystinuria, type cblC + + + Preferential parent + + + + + + 79283 + Methylmalonic acidemia with homocystinuria, type cblD + + + Preferential parent + + + + + + 79284 + Methylmalonic acidemia with homocystinuria type cblF + + + Preferential parent + + + + + + 79299 + Congenital glucokinase-related hyperinsulinism + + + Preferential parent + + + + + + 79310 + Vitamin B12-responsive methylmalonic acidemia type cblA + + + Preferential parent + + + + + + 79311 + Vitamin B12-responsive methylmalonic acidemia type cblB + + + Preferential parent + + + + + + 79312 + Vitamin B12-unresponsive methylmalonic acidemia type mut- + + + Preferential parent + + + + + + 79314 + L-2-hydroxyglutaric aciduria + + + Preferential parent + + + + + + 79315 + D-2-hydroxyglutaric aciduria + + + Preferential parent + + + + + + 79318 + PMM2-CDG + + + Preferential parent + + + + + + 79319 + MPI-CDG + + + Preferential parent + + + + + + 79320 + ALG6-CDG + + + Preferential parent + + + + + + 79321 + ALG3-CDG + + + Preferential parent + + + + + + 79322 + DPM1-CDG + + + Preferential parent + + + + + + 79323 + MPDU1-CDG + + + Preferential parent + + + + + + 79324 + ALG12-CDG + + + Preferential parent + + + + + + 79325 + ALG8-CDG + + + Preferential parent + + + + + + 79326 + ALG2-CDG + + + Preferential parent + + + + + + 79327 + ALG1-CDG + + + Preferential parent + + + + + + 79328 + ALG9-CDG + + + Preferential parent + + + + + + 79329 + MGAT2-CDG + + + Preferential parent + + + + + + 79330 + MOGS-CDG + + + Preferential parent + + + + + + 79332 + B4GALT1-CDG + + + Preferential parent + + + + + + 79333 + COG7-CDG + + + Preferential parent + + + + + + 79473 + Variegate porphyria + + + Preferential parent + + + + + + 79507 + Hypotonia-failure to thrive-microcephaly syndrome + + + Preferential parent + + + + + + 79643 + Autosomal recessive hyperinsulinism due to SUR1 deficiency + + + Preferential parent + + + + + + 79644 + Autosomal recessive hyperinsulinism due to Kir6.2 deficiency + + + Preferential parent + + + + + + 79651 + Mild hyperphenylalaninemia + + + Preferential parent + + + + + + 85212 + Fetal Gaucher disease + + + Preferential parent + + + + + + 86309 + DPAGT1-CDG + + + Preferential parent + + + + + + 87876 + Sialidosis type 2 + + + Preferential parent + + + + + + 91088 + Other metabolic disease + + + Preferential parent + + + + + + 91130 + Cardiomyopathy-hypotonia-lactic acidosis syndrome + + + Preferential parent + + + + + + 91131 + DK1-CDG + + + Preferential parent + + + + + + 93399 + Juvenile sialidosis type 2 + + + Preferential parent + + + + + + 93400 + Congenital sialidosis type 2 + + + Preferential parent + + + + + + 93473 + Hurler syndrome + + + Preferential parent + + + + + + 93474 + Scheie syndrome + + + Preferential parent + + + + + + 93476 + Hurler-Scheie syndrome + + + Preferential parent + + + + + + 94086 + Blue diaper syndrome + + + Preferential parent + + + + + + 95157 + Acute hepatic porphyria + + + Preferential parent + + + + + + 95159 + Hepatoerythropoietic porphyria + + + Preferential parent + + + + + + 95428 + COG8-CDG + + + Preferential parent + + + + + + 97234 + Glycogen storage disease due to phosphoglycerate mutase deficiency + + + Preferential parent + + + + + + 99731 + Isolated sulfite oxidase deficiency + + + Preferential parent + + + + + + 99732 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency + + + Preferential parent + + + + + + 99845 + Genetic recurrent myoglobinuria + + + Preferential parent + + + + + + 99849 + Glycogen storage disease due to muscle beta-enolase deficiency + + + Preferential parent + + + + + + 99901 + Acyl-CoA dehydrogenase 9 deficiency + + + Preferential parent + + + + + + 100924 + Porphyria due to ALA dehydratase deficiency + + + Preferential parent + + + + + + 101028 + Transaldolase deficiency + + + Preferential parent + + + + + + 101330 + Porphyria cutanea tarda + + + Preferential parent + + + + + + 137625 + Glycogen storage disease due to muscle and heart glycogen synthase deficiency + + + Preferential parent + + + + + + 137681 + Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 + + + Preferential parent + + + + + + 137908 + Hypotonia with lactic acidemia and hyperammonemia + + + Preferential parent + + + + + + 139396 + X-linked cerebral adrenoleukodystrophy + + + Preferential parent + + + + + + 139399 + Adrenomyeloneuropathy + + + Preferential parent + + + + + + 163631 + Bile acid synthesis defect with cholestasis and malabsorption + + + Preferential parent + + + + + + 163690 + Hypotonia-cystinuria syndrome + + + Preferential parent + + + + + + 163693 + 2p21 microdeletion syndrome + + + Preferential parent + + + + + + 165991 + Exercise-induced hyperinsulinism + + + Preferential parent + + + + + + 168566 + Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 + + + Preferential parent + + + + + + 199285 + Hereditary hypercarotenemia and vitamin A deficiency + + + Preferential parent + + + + + + 199337 + Pancreatic insufficiency-anemia-hyperostosis syndrome + + + Preferential parent + + + + + + 206428 + Hypoxanthine-guanine phosphoribosyltransferase deficiency + + + Preferential parent + + + + + + 206436 + Infantile Krabbe disease + + + Preferential parent + + + + + + 206443 + Late-infantile/juvenile Krabbe disease + + + Preferential parent + + + + + + 206448 + Adult Krabbe disease + + + Preferential parent + + + + + + 206583 + Adult polyglucosan body disease + + + Preferential parent + + + + + + 216972 + Niemann-Pick disease type C, severe perinatal form + + + Preferential parent + + + + + + 216975 + Niemann-Pick disease type C, severe early infantile neurologic onset + + + Preferential parent + + + + + + 216978 + Niemann-Pick disease type C, late infantile neurologic onset + + + Preferential parent + + + + + + 216981 + Niemann-Pick disease type C, juvenile neurologic onset + + + Preferential parent + + + + + + 216986 + Niemann-Pick disease type C, adult neurologic onset + + + Preferential parent + + + + + + 217085 + Mucopolysaccharidosis type 2, severe form + + + Preferential parent + + + + + + 217093 + Mucopolysaccharidosis type 2, attenuated form + + + Preferential parent + + + + + + 220489 + Rare hereditary hemochromatosis + + + Preferential parent + + + + + + 223713 + Mitochondrial oxidative phosphorylation disorder + + + Preferential parent + + + + + + 225123 + TFR2-related hemochromatosis + + + Preferential parent + + + + + + 228302 + Carnitine palmitoyl transferase II deficiency, myopathic form + + + Preferential parent + + + + + + 228305 + Carnitine palmitoyl transferase II deficiency, severe infantile form + + + Preferential parent + + + + + + 228308 + Carnitine palmitoyl transferase II deficiency, neonatal form + + + Preferential parent + + + + + + 238459 + SLC35A1-CDG + + + Preferential parent + + + + + + 238475 + Familial hypercholanemia + + + Preferential parent + + + + + + 238517 + Hypotonia-cystinuria type 1 syndrome + + + Preferential parent + + + + + + 238523 + Atypical hypotonia-cystinuria syndrome + + + Preferential parent + + + + + + 238583 + Hyperphenylalaninemia due to tetrahydrobiopterin deficiency + + + Preferential parent + + + + + + 243343 + Dimethylglycine dehydrogenase deficiency + + + Preferential parent + + + + + + 244310 + RFT1-CDG + + + Preferential parent + + + + + + 247525 + Citrullinemia type I + + + Preferential parent + + + + + + 247546 + Acute neonatal citrullinemia type I + + + Preferential parent + + + + + + 247573 + Late-onset citrullinemia type I + + + Preferential parent + + + + + + 247582 + Citrin deficiency + + + Preferential parent + + + + + + 247585 + Citrullinemia type II + + + Preferential parent + + + + + + 247598 + Neonatal intrahepatic cholestasis due to citrin deficiency + + + Preferential parent + + + + + + 247790 + FTH1-related iron overload + + + Preferential parent + + + + + + 247794 + Juvenile cataract-microcornea-renal glucosuria syndrome + + + Preferential parent + + + + + + 251523 + Hyperzincemia and hypercalprotectinemia + + + Preferential parent + + + + + + 254746 + Pyruvate metabolism disorder + + + Preferential parent + + + + + + 254749 + Tricarboxylic acid cycle disorder + + + Preferential parent + + + + + + 254758 + Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies + + + Preferential parent + + + + + + 254767 + Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA + + + Preferential parent + + + + + + 254776 + Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA + + + Preferential parent + + + + + + 254788 + Mitochondrial DNA-related mitochondrial myopathy + + + Preferential parent + + + + + + 254803 + Mitochondrial DNA depletion syndrome, encephalomyopathic form + + + Preferential parent + + + + + + 254807 + Multiple mitochondrial DNA deletion syndrome + + + Preferential parent + + + + + + 254822 + Mitochondrial oxidative phosphorylation disorder with no known mechanism + + + Preferential parent + + + + + + 254827 + Mitochondrial membrane transport disorder + + + Preferential parent + + + + + + 254830 + Mitochondrial substrate carrier disorder + + + Preferential parent + + + + + + 254834 + Mitochondrial protein import disorder + + + Preferential parent + + + + + + 254837 + Unspecified mitochondrial disorder + + + Preferential parent + + + + + + 254843 + Exercise intolerance with lactic acidosis + + + Preferential parent + + + + + + 254846 + Isolated oxidative phosphorylation complex disorder + + + Preferential parent + + + + + + 254851 + Mitochondrial DNA-related dystonia + + + Preferential parent + + + + + + 254854 + Pure mitochondrial myopathy + + + Preferential parent + + + + + + 254857 + Lethal infantile mitochondrial myopathy + + + Preferential parent + + + + + + 254864 + Mitochondrial myopathy with reversible cytochrome C oxidase deficiency + + + Preferential parent + + + + + + 254871 + Mitochondrial DNA depletion syndrome, hepatocerebral form + + + Preferential parent + + + + + + 254875 + Mitochondrial DNA depletion syndrome, myopathic form + + + Preferential parent + + + + + + 254881 + Spinocerebellar ataxia with epilepsy + + + Preferential parent + + + + + + 254886 + Autosomal recessive progressive external ophthalmoplegia + + + Preferential parent + + + + + + 254892 + Autosomal dominant progressive external ophthalmoplegia + + + Preferential parent + + + + + + 254898 + Deafness-encephaloneuropathy-obesity-valvulopathy syndrome + + + Preferential parent + + + + + + 254902 + Renal tubulopathy-encephalopathy-liver failure syndrome + + + Preferential parent + + + + + + 254905 + Isolated cytochrome C oxidase deficiency + + + Preferential parent + + + + + + 254913 + Isolated ATP synthase deficiency + + + Preferential parent + + + + + + 254920 + Combined oxidative phosphorylation defect type 2 + + + Preferential parent + + + + + + 254925 + Combined oxidative phosphorylation defect type 4 + + + Preferential parent + + + + + + 254930 + Combined oxidative phosphorylation defect type 7 + + + Preferential parent + + + + + + 255138 + Pyruvate dehydrogenase E1-beta deficiency + + + Preferential parent + + + + + + 255182 + Pyruvate dehydrogenase E3-binding protein deficiency + + + Preferential parent + + + + + + 255210 + Mitochondrial DNA-associated Leigh syndrome + + + Preferential parent + + + + + + 255229 + Navajo neurohepatopathy + + + Preferential parent + + + + + + 255235 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy + + + Preferential parent + + + + + + 263297 + Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency + + + Preferential parent + + + + + + 263455 + Congenital hyperinsulinism due to HNF4A deficiency + + + Preferential parent + + + + + + 263487 + COG5-CDG + + + Preferential parent + + + + + + 263494 + DPM3-CDG + + + Preferential parent + + + + + + 263501 + COG4-CDG + + + Preferential parent + + + + + + 263508 + COG1-CDG + + + Preferential parent + + + + + + 264580 + Glycogen storage disease due to liver phosphorylase kinase deficiency + + + Preferential parent + + + + + + 268145 + Classic maple syrup urine disease + + + Preferential parent + + + + + + 268162 + Intermediate maple syrup urine disease + + + Preferential parent + + + + + + 268173 + Intermittent maple syrup urine disease + + + Preferential parent + + + + + + 268184 + Thiamine-responsive maple syrup urine disease + + + Preferential parent + + + + + + 275761 + Lysosomal acid lipase deficiency + + + Preferential parent + + + + + + 276212 + Mucopolysaccharidosis type 6, rapidly progressing + + + Preferential parent + + + + + + 276223 + Mucopolysaccharidosis type 6, slowly progressing + + + Preferential parent + + + + + + 276556 + Hyperinsulinism due to UCP2 deficiency + + + Preferential parent + + + + + + 276575 + Autosomal dominant hyperinsulinism due to SUR1 deficiency + + + Preferential parent + + + + + + 276580 + Autosomal dominant hyperinsulinism due to Kir6.2 deficiency + + + Preferential parent + + + + + + 280071 + ALG11-CDG + + + Preferential parent + + + + + + 280183 + Methylmalonic aciduria due to transcobalamin receptor defect + + + Preferential parent + + + + + + 284411 + Glycerol kinase deficiency, juvenile form + + + Preferential parent + + + + + + 284414 + Glycerol kinase deficiency, adult form + + + Preferential parent + + + + + + 284426 + Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency + + + Preferential parent + + + + + + 284435 + Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency + + + Preferential parent + + + + + + 284814 + Disorder of phenylalanine metabolism + + + Preferential parent + + + + + + 284818 + Disorder of tyrosine metabolism + + + Preferential parent + + + + + + 285657 + Disorder of folate metabolism and transport + + + Preferential parent + + + + + + 289307 + Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency + + + Preferential parent + + + + + + 289504 + Combined malonic and methylmalonic acidemia + + + Preferential parent + + + + + + 289829 + Disorder of tryptophan metabolism + + + Preferential parent + + + + + + 289832 + Disorder of lysine and hydroxylysine metabolism + + + Preferential parent + + + + + + 289841 + Disorder of glutamine metabolism + + + Preferential parent + + + + + + 289866 + Disorder of proline metabolism + + + Preferential parent + + + + + + 289869 + Disorder of ornithine metabolism + + + Preferential parent + + + + + + 289877 + Transient hyperammonemia of the newborn + + + Preferential parent + + + + + + 289891 + Hypermethioninemia due to glycine N-methyltransferase deficiency + + + Preferential parent + + + + + + 289899 + Organic aciduria + + + Preferential parent + + + + + + 289902 + 3-methylglutaconic aciduria + + + Preferential parent + + + + + + 289916 + Vitamin B12-unresponsive methylmalonic acidemia type mut0 + + + Preferential parent + + + + + + 293284 + Tetrahydrobiopterin-responsive phenylketonuria + + + Preferential parent + + + + + + 293355 + Methylmalonic acidemia without homocystinuria + + + Preferential parent + + + + + + 293633 + PYCR1-related De Barsy syndrome + + + Preferential parent + + + + + + 293955 + Childhood encephalopathy due to thiamine pyrophosphokinase deficiency + + + Preferential parent + + + + + + 298644 + Disorder of thiamine metabolism and transport + + + Preferential parent + + + + + + 300313 + Congenital cataract-hearing loss-severe developmental delay syndrome + + + Preferential parent + + + + + + 300536 + DDOST-CDG + + + Preferential parent + + + + + + 308380 + Methylcobalamin deficiency type cblDv1 + + + Preferential parent + + + + + + 308386 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A + + + Preferential parent + + + + + + 308393 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B + + + Preferential parent + + + + + + 308400 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C + + + Preferential parent + + + + + + 308407 + Disorder of beta and omega amino acid metabolism + + + Preferential parent + + + + + + 308410 + Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency + + + Preferential parent + + + + + + 308425 + Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency + + + Preferential parent + + + + + + 308442 + Vitamin B12-responsive methylmalonic acidemia, type cblDv2 + + + Preferential parent + + + + + + 308448 + Aminoacylase deficiency + + + Preferential parent + + + + + + 308451 + Disorder of neutral amino acid transport + + + Preferential parent + + + + + + 308459 + Disorder of glycolysis + + + Preferential parent + + + + + + 308463 + Disorder of fructose metabolism + + + Preferential parent + + + + + + 308467 + Disorder of galactose metabolism + + + Preferential parent + + + + + + 308473 + Erythrocyte galactose epimerase deficiency + + + Preferential parent + + + + + + 308487 + Generalized galactose epimerase deficiency + + + Preferential parent + + + + + + 308520 + Glycogen storage disease due to glycogen synthase deficiency + + + Preferential parent + + + + + + 308552 + Glycogen storage disease due to acid maltase deficiency, infantile onset + + + Preferential parent + + + + + + 308621 + Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form + + + Preferential parent + + + + + + 308638 + Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form + + + Preferential parent + + + + + + 308655 + Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form + + + Preferential parent + + + + + + 308670 + Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form + + + Preferential parent + + + + + + 308684 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form + + + Preferential parent + + + + + + 308698 + Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form + + + Preferential parent + + + + + + 308712 + Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form + + + Preferential parent + + + + + + 308993 + Glycerol kinase deficiency + + + Preferential parent + + + + + + 308998 + Disorder of glyoxylate metabolism + + + Preferential parent + + + + + + 309001 + Disorder of carbohydrate absorption and transport + + + Preferential parent + + + + + + 309005 + Disorder of lipid metabolism + + + Preferential parent + + + + + + 309025 + Mevalonate kinase deficiency + + + Preferential parent + + + + + + 309028 + Disorder of lipid absorption and transport + + + Preferential parent + + + + + + 309031 + Pancreatic triacylglycerol lipase deficiency + + + Preferential parent + + + + + + 309108 + Pancreatic colipase deficiency + + + Preferential parent + + + + + + 309111 + Combined pancreatic lipase-colipase deficiency + + + Preferential parent + + + + + + 309115 + Disorder of fatty acid oxidation and ketogenesis + + + Preferential parent + + + + + + 309120 + Acyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 309127 + 3-hydroxyacyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 309130 + Disorder of carnitine cycle and carnitine transport + + + Preferential parent + + + + + + 309133 + Metabolic disease due to other fatty acid oxidation disorder + + + Preferential parent + + + + + + 309136 + Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes + + + Preferential parent + + + + + + 309144 + Gangliosidosis + + + Preferential parent + + + + + + 309147 + Hyper-beta-alaninemia + + + Preferential parent + + + + + + 309152 + GM2 gangliosidosis + + + Preferential parent + + + + + + 309155 + Sandhoff disease, infantile form + + + Preferential parent + + + + + + 309162 + Sandhoff disease, juvenile form + + + Preferential parent + + + + + + 309169 + Sandhoff disease, adult form + + + Preferential parent + + + + + + 309178 + Tay-Sachs disease, infantile form + + + Preferential parent + + + + + + 309185 + Tay-Sachs disease, juvenile form + + + Preferential parent + + + + + + 309192 + Tay-Sachs disease, adult form + + + Preferential parent + + + + + + 309246 + GM2 gangliosidosis, AB variant + + + Preferential parent + + + + + + 309252 + Atypical Gaucher disease due to saposin C deficiency + + + Preferential parent + + + + + + 309279 + Glycoproteinosis + + + Preferential parent + + + + + + 309282 + Alpha-mannosidosis, infantile form + + + Preferential parent + + + + + + 309288 + Alpha-mannosidosis, adult form + + + Preferential parent + + + + + + 309294 + Sialidosis + + + Preferential parent + + + + + + 309297 + Mucopolysaccharidosis type 4A + + + Preferential parent + + + + + + 309310 + Mucopolysaccharidosis type 4B + + + Preferential parent + + + + + + 309319 + Disorder of sialic acid metabolism + + + Preferential parent + + + + + + 309324 + Free sialic acid storage disease, infantile form + + + Preferential parent + + + + + + 309331 + Intermediate severe Salla disease + + + Preferential parent + + + + + + 309334 + Salla disease + + + Preferential parent + + + + + + 309337 + Lysosomal glycogen storage disease + + + Preferential parent + + + + + + 309340 + Disorder of lysosomal-related organelles + + + Preferential parent + + + + + + 309347 + Disorder of protein N-glycosylation + + + Preferential parent + + + + + + 309447 + Disorder of protein O-glycosylation + + + Preferential parent + + + + + + 309450 + Disorder of O-xylosylglycan synthesis + + + Preferential parent + + + + + + 309458 + Disorder of O-N-acetylgalactosaminylglycan synthesis + + + Preferential parent + + + + + + 309463 + Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis + + + Preferential parent + + + + + + 309469 + Disorder of O-mannosylglycan synthesis + + + Preferential parent + + + + + + 309505 + Disorder of fucoglycosan synthesis + + + Preferential parent + + + + + + 309515 + Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + + + Preferential parent + + + + + + 309526 + Disorder of multiple glycosylation + + + Preferential parent + + + + + + 309568 + Defect in conserved oligomeric Golgi complex + + + Preferential parent + + + + + + 309778 + Defect in V-ATPase + + + Preferential parent + + + + + + 309810 + Disorder of peroxisomal alpha-, beta- and omega-oxidation + + + Preferential parent + + + + + + 309813 + Disorder of porphyrin and heme metabolism + + + Preferential parent + + + + + + 309816 + Disorder of bilirubin metabolism and excretion + + + Preferential parent + + + + + + 309819 + Disorder of pterin metabolism + + + Preferential parent + + + + + + 309824 + Disorder of metabolite absorption and transport + + + Preferential parent + + + + + + 309827 + Disorder of vitamin and non-protein cofactor absorption and transport + + + Preferential parent + + + + + + 309830 + Disorder of catecholamine synthesis + + + Preferential parent + + + + + + 309833 + Disorder of other vitamins and cofactors metabolism and transport + + + Preferential parent + + + + + + 309836 + Disorder of mineral absorption and transport + + + Preferential parent + + + + + + 309839 + Disorder of copper metabolism + + + Preferential parent + + + + + + 309842 + Disorder of iron metabolism and transport + + + Preferential parent + + + + + + 309845 + Disorder of zinc metabolism and transport + + + Preferential parent + + + + + + 309848 + Disorder of magnesium transport + + + Preferential parent + + + + + + 309851 + Disorder of manganese transport + + + Preferential parent + + + + + + 309854 + Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome + + + Preferential parent + + + + + + 314637 + Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency + + + Preferential parent + + + + + + 314667 + TMEM165-CDG + + + Preferential parent + + + + + + 319504 + Combined oxidative phosphorylation defect type 8 + + + Preferential parent + + + + + + 319509 + Combined oxidative phosphorylation defect type 9 + + + Preferential parent + + + + + + 319514 + Combined oxidative phosphorylation defect type 13 + + + Preferential parent + + + + + + 319519 + Combined oxidative phosphorylation defect type 14 + + + Preferential parent + + + + + + 319524 + Combined oxidative phosphorylation defect type 15 + + + Preferential parent + + + + + + 319646 + PGM1-CDG + + + Preferential parent + + + + + + 319678 + Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome + + + Preferential parent + + + + + + 324422 + ALG13-CDG + + + Preferential parent + + + + + + 324525 + Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation + + + Preferential parent + + + + + + 324535 + Combined oxidative phosphorylation defect type 11 + + + Preferential parent + + + + + + 324575 + Hyperinsulinism due to HNF1A deficiency + + + Preferential parent + + + + + + 324737 + SRD5A3-CDG + + + Preferential parent + + + + + + 329178 + Congenital muscular dystrophy with intellectual disability and severe epilepsy + + + Preferential parent + + + + + + 329314 + Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency + + + Preferential parent + + + + + + 329336 + Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy + + + Preferential parent + + + + + + 329942 + Transient neonatal multiple acyl-CoA dehydrogenase deficiency + + + Preferential parent + + + + + + 352301 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis + + + Preferential parent + + + + + + 352306 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement + + + Preferential parent + + + + + + 352309 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement + + + Preferential parent + + + + + + 352312 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement + + + Preferential parent + + + + + + 352328 + MEGDEL syndrome + + + Preferential parent + + + + + + 352447 + Progressive external ophthalmoplegia-myopathy-emaciation syndrome + + + Preferential parent + + + + + + 352456 + Mitochondrial DNA maintenance syndrome + + + Preferential parent + + + + + + 352649 + Brain dopamine-serotonin vesicular transport disease + + + Preferential parent + + + + + + 352728 + Disorder of melanin metabolism + + + Preferential parent + + + + + + 353217 + Epileptic encephalopathy with global cerebral demyelination + + + Preferential parent + + + + + + 353308 + Pyruvate carboxylase deficiency, infantile type + + + Preferential parent + + + + + + 353314 + Pyruvate carboxylase deficiency, severe neonatal type + + + Preferential parent + + + + + + 353320 + Pyruvate carboxylase deficiency, benign type + + + Preferential parent + + + + + + 356961 + SLC35A2-CDG + + + Preferential parent + + + + + + 356978 + D,L-2-hydroxyglutaric aciduria + + + Preferential parent + + + + + + 363534 + Mitochondrial DNA depletion syndrome, hepatocerebrorenal form + + + Preferential parent + + + + + + 363694 + Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome + + + Preferential parent + + + + + + 369897 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies + + + Preferential parent + + + + + + 369913 + Combined oxidative phosphorylation defect type 17 + + + Preferential parent + + + + + + 369955 + Methylmalonic acidemia with homocystinuria, type cblJ + + + Preferential parent + + + + + + 369962 + Methylmalonic acidemia with homocystinuria, type cblX + + + Preferential parent + + + + + + 370933 + GM3 synthase deficiency + + + Preferential parent + + + + + + 371047 + Congenital disorder of glycosylation with neurological involvement + + + Preferential parent + + + + + + 371071 + Congenital disorder of glycosylation with epilepsy as a major feature + + + Preferential parent + + + + + + 371157 + Congenital disorder of glycosylation with hepatic involvement + + + Preferential parent + + + + + + 371176 + Congenital disorder of glycosylation with dilated cardiomyopathy + + + Preferential parent + + + + + + 371183 + Congenital disorder of glycosylation with cardiac malformation as a major feature + + + Preferential parent + + + + + + 371188 + Congenital disorder of glycosylation with intestinal involvement + + + Preferential parent + + + + + + 371195 + Congenital disorder of glycosylation-related bone disorder + + + Preferential parent + + + + + + 371200 + Congenital disorder of glycosylation with skin involvement + + + Preferential parent + + + + + + 371207 + Congenital disorder of glycosylation with nephropathy as a major feature + + + Preferential parent + + + + + + 371212 + Congenital disorder of glycosylation with deafness as a major feature + + + Preferential parent + + + + + + 371235 + Congenital disorder of glycosylation with developmental anomaly + + + Preferential parent + + + + + + 391348 + Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome + + + Preferential parent + + + + + + 391381 + Disorder of asparagine metabolism + + + Preferential parent + + + + + + 391417 + HSD10 disease + + + Preferential parent + + + + + + 391428 + HSD10 disease, infantile type + + + Preferential parent + + + + + + 391457 + HSD10 disease, neonatal type + + + Preferential parent + + + + + + 394529 + Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type + + + Preferential parent + + + + + + 394532 + Multiple acyl-CoA dehydrogenase deficiency, mild type + + + Preferential parent + + + + + + 397593 + Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency + + + Preferential parent + + + + + + 397937 + Polyglucosan body myopathy type 1 + + + Preferential parent + + + + + + 397941 + MAN1B1-CDG + + + Preferential parent + + + + + + 401854 + Lipoic acid biosynthesis defect + + + Preferential parent + + + + + + 401859 + Lipoic acid synthetase deficiency + + + Preferential parent + + + + + + 401862 + Lipoyl transferase 1 deficiency + + + Preferential parent + + + + + + 401866 + Childhood-onset spasticity with hyperglycinemia + + + Preferential parent + + + + + + 401869 + Multiple mitochondrial dysfunctions syndrome type 1 + + + Preferential parent + + + + + + 401874 + Multiple mitochondrial dysfunctions syndrome type 2 + + + Preferential parent + + + + + + 401948 + Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + + + Preferential parent + + + + + + 411536 + Mild phosphoribosylpyrophosphate synthetase superactivity + + + Preferential parent + + + + + + 411543 + Severe phosphoribosylpyrophosphate synthetase superactivity + + + Preferential parent + + + + + + 411629 + Infantile nephropathic cystinosis + + + Preferential parent + + + + + + 411634 + Juvenile nephropathic cystinosis + + + Preferential parent + + + + + + 411641 + Ocular cystinosis + + + Preferential parent + + + + + + 411712 + Maternal riboflavin deficiency + + + Preferential parent + + + + + + 420429 + Glycogen storage disease due to acid maltase deficiency, late-onset + + + Preferential parent + + + + + + 420728 + Combined oxidative phosphorylation defect type 20 + + + Preferential parent + + + + + + 420733 + Combined oxidative phosphorylation defect type 21 + + + Preferential parent + + + + + + 423461 + Mucolipidosis type III alpha/beta + + + Preferential parent + + + + + + 423470 + Mucolipidosis type III gamma + + + Preferential parent + + + + + + 423479 + X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency + + + Preferential parent + + + + + + 435934 + COG2-CDG + + + Preferential parent + + + + + + 438072 + Disorder of keton body transport + + + Preferential parent + + + + + + 438075 + Ketoacidosis due to monocarboxylate transporter-1 deficiency + + + Preferential parent + + + + + + 438178 + Fatty acyl-CoA reductase 1 deficiency + + + Preferential parent + + + + + + 440701 + Disorders of pentose/polyol metabolism + + + Preferential parent + + + + + + 440713 + Isolated sedoheptulokinase deficiency + + + Preferential parent + + + + + + 3276 + Disorder of plasmalogens biosynthesis + + + Preferential parent + + + + + + 443057 + Sporadic porphyria cutanea tarda + + + Preferential parent + + + + + + 443062 + Familial porphyria cutanea tarda + + + Preferential parent + + + + + + 443197 + X-linked erythropoietic protoporphyria + + + Preferential parent + + + + + + 443811 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parent + + + + + + 464443 + COG6-CGD + + + Preferential parent + + + + + + 465508 + Symptomatic form of HFE-related hemochromatosis + + + Preferential parent + + + + + + 466703 + TMEM199-CDG + + + Preferential parent + + + + + + 466926 + Seizures-scoliosis-macrocephaly syndrome + + + Preferential parent + + + + + + 468684 + CCDC115-CDG + + + Preferential parent + + + + + + 468699 + SLC39A8-CDG + + + Preferential parent + + + + + + 468726 + Severe primary trimethylaminuria + + + Preferential parent + + + + + + 477684 + Combined oxidative phosphorylation defect type 26 + + + Preferential parent + + + + + + 477774 + Combined oxidative phosphorylation defect type 27 + + + Preferential parent + + + + + + 478029 + Combined oxidative phosphorylation defect type 29 + + + Preferential parent + + + + + + 478042 + Combined oxidative phosphorylation defect type 30 + + + Preferential parent + + + + + + 478049 + Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome + + + Preferential parent + + + + + + 488168 + Microcephaly-congenital cataract-psoriasiform dermatitis syndrome + + + Preferential parent + + + + + + 488618 + Transketolase deficiency + + + Preferential parent + + + + + + 488635 + Early-onset epilepsy-intellectual disability-brain anomalies syndrome + + + Preferential parent + + + + + + 497623 + C12ORF65-related combined oxidative phosphorylation defect + + + Preferential parent + + + + + + 506334 + Familial steroid-resistant nephrotic syndrome with adrenal insufficiency + + + Preferential parent + + + + + + 521268 + Sodium-dependent multivitamin transporter deficiency + + + Preferential parent + + + + + + 528091 + Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome + + + Preferential parent + + + + + + 542585 + Auditory neuropathy-optic atrophy syndrome + + + Preferential parent + + + + + + 543470 + Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome + + + Preferential parent + + + + + + 544488 + Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome + + + Preferential parent + + + + + + 555402 + NAD(P)HX dehydratase deficiency + + + Preferential parent + + + + + + 555407 + NAD(P)HX epimerase deficiency + + + Preferential parent + + + + + + 562509 + Heme oxygenase-1 deficiency + + + Preferential parent + + + + + + 562538 + Autosomal recessive extra-oral halitosis + + + Preferential parent + + + + + + 569274 + Multiple mitochondrial dysfunctions syndrome type 5 + + + Preferential parent + + + + + + 569290 + Multiple mitochondrial dysfunctions syndrome type 6 + + + Preferential parent + + + + + + 570422 + Galactose mutarotase deficiency + + + Preferential parent + + + + + + 570491 + QRSL1-related combined oxidative phosphorylation defect + + + Preferential parent + + + + + + 572798 + WARS2-related combined oxidative phosphorylation defect + + + Preferential parent + + + + + + 583595 + Serine biosynthesis pathway deficiency, infantile/juvenile form + + + Preferential parent + + + + + + 583602 + Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency + + + Preferential parent + + + + + + 583607 + Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency + + + Preferential parent + + + + + + 583612 + Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency + + + Preferential parent + + + + + + 615938 + Spastic paraparesis-cataracts-speech delay syndrome + + + Preferential parent + + + + + + 618891 + Chronic neurovisceral acid sphingomyelinase deficiency + + + Preferential parent + + + + + + 618899 + Acid sphingomyelinase deficiency + + + Preferential parent + + + + + + 653880 + Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency + + + Preferential parent + + + + + + 658813 + Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency + + + Preferential parent + + + + + + 659672 + Harderoporphyria + + 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68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 555874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874 + Congenital tricuspid valve dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 68378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68378 + Congenital limb malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 555877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 + FLNA-related X-linked myxomatous valvular dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 68381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68381 + Neuromuscular disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 555905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905 + IgA pemphigus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 68380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380 + Mitochondrial disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 68383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383 + Rare constitutional aplastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 556030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030 + Early-onset familial hypoaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 68385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68385 + Neurometabolic disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 556037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556037 + Late-onset familial hypoaldosteronism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 556985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 + Early-onset calcifying leukoencephalopathy-skeletal dysplasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 556955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 + Pancreatic agenesis-holoprosencephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 556508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556508 + Rare disorder due to poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 68402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68402 + Rare parkinsonian disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 557064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 + Neonatal epileptic encephalopathy due to glutaminase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 557056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 + Spastic ataxia-dysarthria due to glutaminase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 557003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 + Oculoskeletodental syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 68411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68411 + Rare bone tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 68416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68416 + Rare infectious disease + + + + + 2912 + Poliomyelitis + + + Preferential parent + + + + + + 673 + Malaria + + + Preferential parent + + + + + + 1247 + Schistosomiasis + + + Preferential parent + + + + + + 1163 + Aspergillosis + + + Preferential parent + + + + + + 1304 + Brucellosis + + + Preferential parent + + + + + + 173 + Cholera + + + Preferential parent + + + + + + 795 + Rare form of salmonellosis + + + Preferential parent + + + + + + 509 + Leptospirosis + + + Preferential parent + + + + + + 810 + Shigellosis + + + Preferential parent + + + + + + 863 + Trichinellosis + + + Preferential parent + + + + + + 3452 + Whipple disease + + + Preferential parent + + + + + + 3020 + Ramsay Hunt syndrome + + + Preferential parent + + + + + + 549 + Legionnaires disease + + + Preferential parent + + + + + + 284 + Alveolar echinococcosis + + + Preferential parent + + + + + + 533 + Listeriosis + + + Preferential parent + + + + + + 1489 + Whooping cough + + + Preferential parent + + + + + + 1267 + Botulism + + + Preferential parent + + + + + + 1679 + Diphtheria + + + Preferential parent + + + + + + 3389 + Tuberculosis + + + Preferential parent + + + + + + 3299 + Tetanus + + + Preferential parent + + + + + + 770 + Rabies + + + Preferential parent + + + + + + 3386 + American trypanosomiasis + + + Preferential parent + + + + + + 507 + Leishmaniasis + + + Preferential parent + + + + + + 548 + Leprosy + + + Preferential parent + + + + + + 1930 + Herpes simplex virus encephalitis + + + Preferential parent + + + + + + 1070 + Anisakiasis + + + Preferential parent + + + + + + 707 + Plague + + + Preferential parent + + + + + + 2700 + Noma + + + Preferential parent + + + + + + 292 + Congenital enterovirus infection + + + Preferential parent + + + + + + 2552 + Microsporidiosis + + + Preferential parent + + + + + + 340 + Hemorrhagic fever-renal syndrome + + + Preferential parent + + + + + + 341 + Viral hemorrhagic fever + + + Preferential parent + + + + + + 1560 + Cysticercosis + + + Preferential parent + + + + + + 3385 + African trypanosomiasis + + + Preferential parent + + + + + + 2566 + Chronic Epstein-Barr virus infection syndrome + + + Preferential parent + + + + + + 67 + Amoebiasis due to Entamoeba histolytica + + + Preferential parent + + + + + + 1546 + Cryptococcosis + + + Preferential parent + + + + + + 1685 + Distomatosis + + + Preferential parent + + + + + + 1902 + Ehrlichiosis + + + Preferential parent + + + + + + 2034 + Filariasis + + + Preferential parent + + + + + + 2583 + Mycetoma + + + Preferential parent + + + + + + 2737 + Onchocerciasis + + + Preferential parent + + + + + + 3343 + Toxocariasis + + + Preferential parent + + + + + + 3392 + Tularemia + + + Preferential parent + + + + + + 1223 + Balantidiasis + + + Preferential parent + + + + + + 231 + Dracunculiasis + + + Preferential parent + + + + + + 2035 + Lymphatic filariasis + + + Preferential parent + + + + + + 2404 + Loiasis + + + Preferential parent + + + + + + 2459 + Mansonelliasis + + + Preferential parent + + + + + + 781 + Q fever + + + Preferential parent + + + + + + 297 + Tick-borne encephalitis + + + Preferential parent + + + + + + 68 + Amoebiasis due to free-living amoebae + + + Preferential parent + + + + + + 74 + Angiostrongyliasis + + + Preferential parent + + + + + + 76 + Strongyloidiasis + + + Preferential parent + + + + + + 78 + Ankylostomiasis + + + Preferential parent + + + + + + 108 + Babesiosis + + + Preferential parent + + + + + + 128 + Diphyllobothriasis + + + Preferential parent + + + + + + 182 + Chromomycosis + + + Preferential parent + + + + + + 210 + Cyclosporiasis + + + Preferential parent + + + + + + 283 + Demodicidosis + + + Preferential parent + + + + + + 390 + Histoplasmosis + + + Preferential parent + + + + + + 400 + Cystic echinococcosis + + + Preferential parent + + + + + + 401 + Hymenolepiasis + + + Preferential parent + + + + + + 472 + Isosporiasis + + + Preferential parent + + + + + + 504 + Creeping myiasis + + + Preferential parent + + + + + + 591 + Furuncular myiasis + + + Preferential parent + + + + + + 723 + Pneumocystosis + + + Preferential parent + + + + + + 826 + Sporotrichosis + + + Preferential parent + + + + + + 879 + Tungiasis + + + Preferential parent + + + + + + 764 + Pyomyositis + + + Preferential parent + + + + + + 31202 + Melioidosis + + + Preferential parent + + + + + + 31204 + Nocardiosis + + + Preferential parent + + + + + + 31205 + Rat-bite fever + + + Preferential parent + + + + + + 33475 + Meningococcal meningitis + + + Preferential parent + + + + + + 35062 + Severe disseminated cytomegalovirus infection in immunocompetent patients + + + Preferential parent + + + + + + 36234 + Bacterial toxic-shock syndrome + + + Preferential parent + + + + + + 36235 + Staphylococcal scarlet fever + + + Preferential parent + + + + + + 36236 + Staphylococcal scalded skin syndrome + + + Preferential parent + + + + + + 36237 + Bullous impetigo + + + Preferential parent + + + + + + 36238 + Staphylococcal necrotizing pneumonia + + + Preferential parent + + + + + + 50839 + Cat-scratch disease + + + Preferential parent + + + + + + 54368 + Sarcocystosis + + + Preferential parent + + + + + + 55655 + Pneumococcal meningitis + + + Preferential parent + + + + + + 64692 + Bartonella bacilliformis infection + + + Preferential parent + + + + + + 64694 + Trench fever + + + Preferential parent + + + + + + 67043 + Amoebic keratitis + + + Preferential parent + + + + + + 70596 + Congenital Epstein-Barr virus infection + + + Preferential parent + + + + + + 73260 + Paracoccidioidomycosis + + + Preferential parent + + + + + + 73263 + Zygomycosis + + + Preferential parent + + + + + + 75110 + Myiasis + + + Preferential parent + + + + + + 79139 + Japanese encephalitis + + + Preferential parent + + + + + + 83311 + Rocky Mountain spotted fever + + + Preferential parent + + + + + + 83312 + Rickettsialpox + + + Preferential parent + + + + + + 83313 + Boutonneuse fever + + + Preferential parent + + + + + + 83314 + Epidemic typhus + + + Preferential parent + + + + + + 83315 + Murine typhus + + + Preferential parent + + + + + + 83316 + Pseudotyphus of California + + + Preferential parent + + + + + + 83317 + Scrub typhus + + + Preferential parent + + + + + + 83476 + West-Nile encephalitis + + + Preferential parent + + + + + + 83482 + Mycoplasma encephalitis + + + Preferential parent + + + + + + 83483 + La Crosse encephalitis + + + Preferential parent + + + + + + 83484 + St. Louis encephalitis + + + Preferential parent + + + + + + 83593 + Western equine encephalitis + + + Preferential parent + + + + + + 83594 + Eastern equine encephalitis + + + Preferential parent + + + + + + 83595 + Colorado tick fever + + + Preferential parent + + + + + + 83600 + Encephalitis lethargica + + + Preferential parent + + + + + + 83616 + Rubella panencephalitis + + + Preferential parent + + + + + + 90078 + Invasive infections due to vancomycin-resistant enterococci + + + Preferential parent + + + + + + 91127 + Adenovirus infection in immunocompromised patients + + + Preferential parent + + + + + + 91546 + Lyme disease + + + Preferential parent + + + + + + 91547 + Relapsing fever + + + Preferential parent + + + + + + 98010 + Infectious disease of the nervous system + + + Preferential parent + + + + + + 98252 + Infectious encephalitis + + + Preferential parent + + + + + + 99745 + Typhoid + + + Preferential parent + + + + + + 99748 + Pontiac fever + + + Preferential parent + + + + + + 99824 + Lassa fever + + + Preferential parent + + + + + + 99825 + Nipah virus disease + + + Preferential parent + + + + + + 99826 + Marburg hemorrhagic fever + + + Preferential parent + + + + + + 99827 + Crimean-Congo hemorrhagic fever + + + Preferential parent + + + + + + 99828 + Dengue fever + + + Preferential parent + + + + + + 99829 + Yellow fever + + + Preferential parent + + + + + + 99903 + Spirillary rat-bite fever + + + Preferential parent + + + + + + 99905 + Streptobacillary rat-bite fever + + + Preferential parent + + + + + + 99918 + Streptococcal toxic-shock syndrome + + + Preferential parent + + + + + + 99919 + Staphylococcal toxic-shock syndrome + + + Preferential parent + + + + + + 99983 + Cutaneous myiasis + + + Preferential parent + + + + + + 99990 + Brill-Zinsser disease + + + Preferential parent + + + + + + 99991 + Relapsing epidemic typhus + + + Preferential parent + + + + + + 101334 + African tick typhus + + + Preferential parent + + + + + + 102021 + Rickettsial disease + + + Preferential parent + + + + + + 102022 + Spotted fever rickettsiosis + + + Preferential parent + + + + + + 102023 + Typhus-group rickettsiosis + + + Preferential parent + + + + + + 137698 + Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk + + + Preferential parent + + + + + + 137839 + Lemierre syndrome + + + Preferential parent + + + + + + 163582 + Rare bacterial infectious disease + + + Preferential parent + + + + + + 163585 + Rare viral disease + + + Preferential parent + + + + + + 163588 + Rare parasitic disease + + + Preferential parent + + + + + + 163591 + Rare mycosis + + + Preferential parent + + + + + + 165955 + Wound myiasis + + + Preferential parent + + + + + + 165958 + Cavitary myiasis + + + Preferential parent + + + + + + 166291 + Dirofilariasis + + + Preferential parent + + + + + + 178475 + Wound botulism + + + Preferential parent + + + + + + 178478 + Infant botulism + + + Preferential parent + + + + + + 178481 + Intestinal botulism + + + Preferential parent + + + + + + 178487 + Adult intestinal botulism + + + Preferential parent + + + + + + 206613 + Infectious disease with peripheral neuropathy + + + Preferential parent + + + + + + 206988 + Infectious, fungal or parasitic myopathy + + + Preferential parent + + + + + + 206991 + Viral myositis + + + Preferential parent + + + + + + 206994 + Bacterial myositis + + + Preferential parent + + + + + + 206997 + Parasitic myositis + + + Preferential parent + + + + + + 207000 + Fungal myositis + + + Preferential parent + + + + + + 217260 + Progressive multifocal leukoencephalopathy + + + Preferential parent + + + + + + 228119 + Fusariosis + + + Preferential parent + + + + + + 228123 + Coccidioidomycosis + + + Preferential parent + + + + + + 228371 + Foodborne botulism + + + Preferential parent + + + + + + 230800 + Toxin-mediated infectious botulism + + + Preferential parent + + + + + + 247257 + Inhalational anthrax + + + Preferential parent + + + + + + 254504 + Inhalational botulism + + + Preferential parent + + + + + + 254509 + Iatrogenic botulism + + + Preferential parent + + + + + + 263524 + Acute necrotizing encephalopathy of childhood + + + Preferential parent + + + + + + 289326 + Tropical spastic paraparesis + + + Preferential parent + + + + + + 289347 + Infective dermatitis associated with HTLV-1 + + + Preferential parent + + + + + + 300579 + Staphylococcal toxemia + + + Preferential parent + + + + + + 319213 + Lujo hemorrhagic fever + + + Preferential parent + + + + + + 319218 + Ebola hemorrhagic fever + + + Preferential parent + + + + + + 319223 + Argentine hemorrhagic fever + + + Preferential parent + + + + + + 319229 + Bolivian hemorrhagic fever + + + Preferential parent + + + + + + 319234 + Venezuelan hemorrhagic fever + + + Preferential parent + + + + + + 319239 + Brazilian hemorrhagic fever + + + Preferential parent + + + + + + 319244 + Chapare hemorrhagic fever + + + Preferential parent + + + + + + 319247 + Hantavirus pulmonary syndrome + + + Preferential parent + + + + + + 319251 + Rift valley fever + + + Preferential parent + + + + + + 319254 + Kyasanur forest disease + + + Preferential parent + + + + + + 319266 + Omsk hemorrhagic fever + + + Preferential parent + + + + + + 324625 + Chikungunya + + + Preferential parent + + + + + + 324632 + Hendra virus infection + + + Preferential parent + + + + + + 324648 + Invasive non-typhoidal salmonellosis + + + Preferential parent + + + + + + 397587 + Deep dermatophytosis + + + Preferential parent + + + + + + 402823 + Hepatitis delta + + + Preferential parent + + + + + + 411703 + Pulmonary non-tuberculous mycobacterial infection + + + Preferential parent + + + + + + 423717 + Cutaneous larva migrans + + + Preferential parent + + + + + + 438279 + Human infection by orthopoxvirus + + + Preferential parent + + + + + + 440368 + Necrotizing soft tissue infection + + + Preferential parent + + + + + + 443227 + Paratyphoid fever + + + Preferential parent + + + + + + 447997 + Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome + + + Preferential parent + + + + + + 448237 + Zika virus disease + + + Preferential parent + + + + + + 449280 + Scedosporiosis + + + Preferential parent + + + + + + 454836 + Avian influenza + + + Preferential parent + + + + + + 457095 + Actinomycosis + + + Preferential parent + + + + + + 563684 + Furuncular myiasis due to Dermatobia hominis + + + Preferential parent + + + + + + 563687 + Furuncular myiasis due to Cordylobia anthropophaga + + + Preferential parent + + + + + + 563690 + Furuncular myiasis due to Cordylobia rodhaini + + + Preferential parent + + + + + + 570762 + Infective endocarditis + + + Preferential parent + + + + + + 600832 + Legionella infection + + + Preferential parent + + + + + + 633124 + Invasive scopulariopsis infection + + + Preferential parent + + + + + + 636945 + Invasive candidiasis + + + Preferential parent + + + + + + 637051 + Borna virus encephalitis + + + Preferential parent + + + + + + 641396 + Central nervous system tuberculosis + + + Preferential parent + + + + + + 645807 + Primary tuberculous lymphadenitis + + + Preferential parent + + + + + + 645814 + Primary pulmonary tuberculosis + + + Preferential parent + + + + + + 645822 + Primary bone and joint tuberculosis + + + Preferential parent + + + + + + 645849 + Primary cutaneous tuberculosis + + + Preferential parent + + + + + + 645854 + Multifocal tuberculosis + + + Preferential parent + + + + + + 645859 + Primary tuberculosis of the digestive system + + + Preferential parent + + + + + + 645874 + Primary genito-urinary tuberculosis + + + Preferential parent + + + + + + 658909 + Fasciolopsiasis + + + Preferential parent + + + + + + 658913 + Paragonimiasis + + + Preferential parent + + + + + + 658917 + Clonorchiasis + + + Preferential parent + + + + + + 659707 + Yersinia pseudotuberculosis infection + + + Preferential parent + + + + + + 659712 + Rare yersiniosis + + + Preferential parent + + + + + + 659756 + Oroya fever + + + Preferential parent + + + + + + 659759 + Verruga peruana + + + Preferential parent + + + + + + 659908 + Glanders + + + Preferential parent + + + + + + 660053 + Psittacosis + + + Preferential parent + + + + + + 688995 + Scarlet fever + + + Preferential parent + + + + + + 697053 + Talaromycosis + + + Preferential parent + + + + + + 697091 + Emergomycosis + + + Preferential parent + + + + + + 697096 + Cryptosporidiosis + + + Preferential parent + + + + + + 699678 + Necrotizing cellulitis + + + Preferential parent + + + + + + 699697 + Necrotizing fasciitis + + + Preferential parent + + + + + + 699702 + Necrotizing myositis + + + Preferential parent + + + + + + 68415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68415 + Rare parathyroid disease and phosphocalcic metabolism anomaly + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 90065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90065 + Acquired aneurysmal subarachnoid hemorrhage + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 519392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392 + Isolated iridoschisis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90066 + Pneumonia caused by Pseudomonas aeruginosa infection + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 519390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390 + Isolated blepharochalasis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396 + Isolated microspherophakia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90068 + Cocaine intoxication + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 90061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90061 + Non-infectious posterior uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384 + Congenital cystic eye + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062 + Acute liver failure + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 519388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 + Autosomal recessive anterior segment dysgenesis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90064 + Acute peripheral arterial occlusion + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 519386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386 + Isolated congenital entropion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073 + Hepatitis B reinfection following liver transplantation + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 519408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519408 + Mooren ulcer + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519406 + Thygeson superficial punctate keratitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519410 + Terrien marginal degeneration + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076 + Partial deep dermal and full thickness burns + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 90069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90069 + Systemic monochloroacetate poisoning + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 519400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400 + Peripapillary staphyloma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519398 + Isolated foveal hypoplasia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404 + Optic disc pit + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402 + Isolated megalopapilla + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90050 + Retinopathy of prematurity + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519333 + Congenital optic disc excavation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 + Hereditary folate malabsorption + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 90052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90052 + Recurrent hepatitis C virus induced liver disease in liver transplant recipients + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 519337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519337 + Disorder with optic nerve compression + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90051 + Sepsis in premature infants + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 519339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519339 + Pseudopapilledema + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041 + Gaisböck syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 90039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 + Hemoglobin D disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 519329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519329 + Rare disorder involving multiple structures of the eye + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 + Familial pseudohyperkalemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 519331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519331 + Secondary early-onset glaucoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 + Primary familial polycythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 90058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90058 + Spinal cord injury + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 519349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519349 + Rare ophthalmic disorder with cranial nerve involvement + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519351 + Rare optic nerve disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519353 + Rare trochlear nerve disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90060 + Diffuse alveolar hemorrhage + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 519355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519355 + Rare ocular motility/alignment disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90059 + Sudden sensorineural hearing loss + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 519341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519341 + Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519343 + Rare ophthalmic disorder with cortical involvement + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90053 + Complications after hematopoietic stem cell transplantation + + + + 565779 + Rare disorder potentially indicated for transplant or complication after transplantation + + + + Preferential parent + + + + + + 519345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345 + Rare disorder with optic disc malformation + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90056 + Moderate and severe traumatic brain injury + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 519347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519347 + Rare neuromuscular disorder with ocular motility/alignment anomaly + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 + Deafness with labyrinthine aplasia, microtia, and microdontia + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 90025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025 + Non-syndromic syndactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 + Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 519298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519298 + Rare scleral disorder + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 90020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90020 + Parkinson-dementia complex of Guam + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 519296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519296 + Rare disorder with pigmented sclera + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90021 + Radiation myelitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90002 + Undifferentiated connective tissue syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 519294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519294 + Syndromic microspherophakia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 519292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519292 + Syndromic ectopia lentis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90003 + Inflammatory pseudotumor of the liver + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 90037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90037 + Drug-induced autoimmune hemolytic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 90038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038 + Shiga toxin-associated hemolytic uremic syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 90035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90035 + Paroxysmal cold hemoglobinuria + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 519317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519317 + Rare retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90036 + Mixed-type autoimmune hemolytic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 519315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519315 + Rare retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 + Non-spherocytic hemolytic anemia due to hexokinase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 519313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519313 + Rare macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90033 + Autoimmune hemolytic anemia, warm type + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 519311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519311 + Rare disorder of the posterior segment of the eye + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 + Primary erythromelalgia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 519309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519309 + Rare choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 + Hemolytic anemia due to glutathione reductase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 89936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 + X-linked hypophosphatemia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 519272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519272 + Structural developmental eye defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 519274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519274 + Syndromic lacrimal system disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 519268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519268 + Rare disorder with ectropion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 89844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 + Lissencephaly syndrome, Norman-Roberts type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 519270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519270 + Rare disorder with entropion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 89843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 + Dystrophic epidermolysis bullosa pruriginosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 89842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 + Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 519264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519264 + Inflammatory/autoimmune disorder involving the lacrimal system + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519266 + Rare disorder of the ocular adnexa + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 + X-linked cone dysfunction syndrome with myopia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519288 + Rare disorder with corneal involvement as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519290 + Rare inflammatory/autoimmune corneal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000 + Erythema elevatum diutinum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 519284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519284 + Rare disorder of the anterior segment of the eye + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519286 + Rare disorder of the pupil + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519280 + Rare conjunctivitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519282 + Rare corneal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 519276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276 + Anterior segment developmental anomaly with extraocular manifestations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 89938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 + Bartter syndrome type 4 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 89937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 + Autosomal dominant hypophosphatemic rickets + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 519278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519278 + Infective keratitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 + Blau syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 90342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 + Xeroderma pigmentosum variant + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 + Autosomal dominant cutis laxa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 + Autosomal recessive cutis laxa type 1 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 + Autosomal recessive cutis laxa type 2 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 + Brittle cornea syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 90362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362 + Primary intestinal lymphangiectasia + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 90363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363 + Secondary intestinal lymphangiectasia + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 90289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289 + Localized scleroderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301 + Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 90291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 + Systemic sclerosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 90308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 + Capillary-lymphatic-venous malformation with segmental distribution + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 + Parkes Weber syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 + Cockayne syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 + Cockayne syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 + Cockayne syndrome type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156 + Centrifugal lipodystrophy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157 + Drug-induced localized lipodystrophy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 + Mandibuloacral dysplasia with type A lipodystrophy + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 90154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 + Mandibuloacral dysplasia with type B lipodystrophy + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 90160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160 + Pressure-induced localized lipoatrophy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158 + Idiopathic localized lipodystrophy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159 + Panniculitis-induced localized lipodystrophy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280 + Chilblain lupus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281 + Discoid lupus erythematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 + Meige disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285 + Lupus erythematosus panniculitis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90282 + Hypertrophic or verrucous lupus erythematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283 + Lupus erythematosus tumidus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90080 + Scarring in glaucoma filtration surgical procedures + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 90078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90078 + Invasive infections due to vancomycin-resistant enterococci + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 90077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90077 + Other acquired skin disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 + Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 514980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514980 + ATP13A2-related parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90081 + AIDS wasting syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 90118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 + Severe early-onset axonal neuropathy due to MFN2 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 + Hereditary motor and sensory neuropathy, Okinawa type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114 + Autosomal dominant intermediate Charcot-Marie-Tooth disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 + Hereditary motor and sensory neuropathy type 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119 + Hereditary motor and sensory neuropathy with acrodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 525677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525677 + Genetic congenital malformation of the eye with glaucoma as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 525731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525731 + Pediatric-onset Graves disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 525738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525738 + Prepubertal anorexia nervosa + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 523000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523000 + Pediatric-onset glaucoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522574 + Rare genetic macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522576 + Rare genetic retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673 + Hepatocellular carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 522578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522578 + Rare genetic disorder involving multiple structures of the eye + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522580 + Secondary early-onset glaucoma of genetic origin + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522568 + Rare genetic disorder of the pupil + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 + Autosomal recessive ataxia, Beauce type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522566 + Rare genetic inflammatory/autoimmune corneal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88659 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659 + Autosomal dominant progressive nephropathy with hypertension + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 522572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522572 + Rare genetic retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660 + Hypertension due to gain-of-function mutations in the mineralocorticoid receptor + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 522570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522570 + Rare genetic disorder of the posterior segment of the eye + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661 + Amelogenesis imperfecta + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 88637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 + Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522560 + Genetic corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522558 + Rare genetic disorder with corneal involvement as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 + Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522564 + Syndromic genetic keratoconus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 + Congenital insensitivity to pain-anosmia-neuropathic arthropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 88643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643 + Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 522562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522562 + Genetic superficial corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 + Anterior segment developmental anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 522552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522552 + Lens position anomaly of genetic origin + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88633 + Superior limbic keratoconjunctivitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522550 + Lens size anomaly of genetic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 88635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 + Vacuolar myopathy with sarcoplasmic reticulum protein aggregates + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522556 + Rare genetic corneal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522554 + Syndromic genetic ectopia lentis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 + Ichthyosis-prematurity syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 522542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522542 + Rare genetic disorder with conjunctival involvement as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 + Posterior column ataxia-retinitis pigmentosa syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 88629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 + Tritanopia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522548 + Syndromic genetic cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 + Terminal osseous dysplasia-pigmentary defects syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 522546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522546 + Rare genetic disorder with lens opacification + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522538 + Rare genetic disorder of the anterior segment of the eye + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620 + Isolated congenital anosmia + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 522540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522540 + Anterior segment developmental anomaly of genetic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 88619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 + Familial acute necrotizing encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 88618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 + S-adenosylhomocysteine hydrolase deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522534 + Lacrimal drainage system anomaly of genetic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 522536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522536 + Structural developmental eye defect of genetic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 88616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 + Autosomal recessive non-syndromic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522530 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522530 + Rare genetic disorder with entropion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522532 + Rare genetic disorder of the lacrimal apparatus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 87884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884 + Rare non-syndromic genetic deafness + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 87876 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 + Sialidosis type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 522526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522526 + Rare genetic palpebral disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 522528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522528 + Rare genetic eyelid malposition disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 87503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503 + Mal de Meleda + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 522522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522522 + Rare genetic neuromuscular disorder with ocular motility/alignment anomaly + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 87277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87277 + Rare intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522524 + Rare genetic disorder of the ocular adnexa + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522518 + Rare genetic disorder with strabismus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522520 + Syndromic genetic disorder with strabismus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522514 + Congenital optic disc excavation of genetic origin + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522516 + Rare genetic ocular motility/alignment disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522510 + Rare genetic ophthalmic disorder with cranial nerve involvement + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 86920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 + Dermatopathia pigmentosa reticularis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 522512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522512 + Rare genetic optic nerve disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 86919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919 + Keratosis palmaris et plantaris-clinodactyly syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 522508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522508 + Rare genetic ophthalmic disorder with cortical involvement + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 522506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522506 + Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918 + Diffuse palmoplantar keratoderma-acrocyanosis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 522504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522504 + Rare genetic disorder of the visual organs + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 86915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 + Lymphedema-atrial septal defects-facial changes syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 522077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 + Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 + Syndromic autoimmune enteropathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 86913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913 + Myoclonic epilepsy in non-progressive encephalopathies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 522037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037 + Primary autoimmune enteropathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 86914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914 + Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909 + Myoclonic epilepsy of infancy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 + Epilepsy with myoclonic absences + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906 + Gelastic seizures with hypothalamic hamartoma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 + Hemiconvulsion-hemiplegia-epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903 + Dendritic cell sarcoma not otherwise specified + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 521450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521450 + LAMA5-related multisystemic syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 86904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904 + Methotrexate-associated lymphoproliferative disorders + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 521445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 + Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 521438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 + Congenital vertebral-cardiac-renal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86900 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900 + Interdigitating dendritic cell sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 521432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 + Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 86902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86902 + Follicular dendritic cell sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 521426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 + PLAA-associated neurodevelopmental disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896 + Histiocytic sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 521414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414 + Autosomal dominant Charcot-Marie-Tooth disease type 2DD + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897 + Langerhans cell sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 521258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 + Xq25 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 89826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89826 + Rare skin disease + + + + + 535 + Rare cutaneous lupus erythematosus + + + Preferential parent + + + + + + 801 + Scleroderma + + + Preferential parent + + + + + + 461 + Recessive X-linked ichthyosis + + + Preferential parent + + + + + + 313 + Lamellar ichthyosis + + + Preferential parent + + + + + + 55 + Oculocutaneous albinism + + + Preferential parent + + + + + + 218 + Darier disease + + + Preferential parent + + + + + + 626 + Large/giant congenital melanocytic nevus + + + Preferential parent + + + + + + 1006 + Alopecia antibody deficiency + + + Preferential parent + + + + + + 816 + Sjögren-Larsson syndrome + + + Preferential parent + + + + + + 304 + Epidermolysis bullosa simplex + + + Preferential parent + + + + + + 704 + Pemphigus vulgaris + + + Preferential parent + + + + + + 2897 + Pityriasis rubra pilaris + + + Preferential parent + + + + + + 2398 + Multiple symmetric lipomatosis + + + Preferential parent + + + + + + 1656 + Dermatitis herpetiformis + + + Preferential parent + + + + + + 634 + Netherton syndrome + + + Preferential parent + + + + + + 113 + Bazex-Dupré-Christol syndrome + + + Preferential parent + + + + + + 381 + Griscelli syndrome + + + Preferential parent + + + + + + 624 + Familial multiple nevi flammei + + + Preferential parent + + + + + + 37 + Acrodermatitis enteropathica + + + Preferential parent + + + + + + 701 + Alopecia universalis + + + Preferential parent + + + + + + 1010 + Autosomal dominant palmoplantar keratoderma and congenital alopecia + + + Preferential parent + + + + + + 1023 + Congenital generalized hypertrichosis, Ambras type + + + Preferential parent + + + + + + 1221 + Cheilitis glandularis + + + Preferential parent + + + + + + 1336 + Hyperkeratosis-hyperpigmentation syndrome + + + Preferential parent + + + + + + 1410 + Uncombable hair syndrome + + + Preferential parent + + + + + + 1658 + Absence of fingerprints-congenital milia syndrome + + + Preferential parent + + + + + + 1839 + Hereditary mucoepithelial dysplasia + + + Preferential parent + + + + + + 1807 + Focal facial dermal dysplasia type III + + + Preferential parent + + + + + + 1954 + Congenital lethal erythroderma + + + Preferential parent + + + + + + 1955 + Spinocerebellar ataxia type 34 + + + Preferential parent + + + + + + 2045 + FLOTCH syndrome + + + Preferential parent + + + + + + 2069 + Gastrocutaneous syndrome + + + Preferential parent + + + + + + 312 + Autosomal dominant epidermolytic ichthyosis + + + Preferential parent + + + + + + 2198 + Palmoplantar keratoderma-esophageal carcinoma syndrome + + + Preferential parent + + + + + + 495 + Transgrediens et progrediens palmoplantar keratoderma + + + Preferential parent + + + + + + 2199 + Epidermolytic palmoplantar keratoderma + + + Preferential parent + + + + + + 2200 + Focal palmoplantar and gingival keratoderma + + + Preferential parent + + + + + + 2201 + Palmoplantar keratoderma-spastic paralysis syndrome + + + Preferential parent + + + + + + 2222 + Hypertrichosis lanuginosa congenita + + + Preferential parent + + + + + + 2271 + Congenital ichthyosis-microcephalus-tetraplegia syndrome + + + Preferential parent + + + + + + 457 + Harlequin ichthyosis + + + Preferential parent + + + + + + 455 + Superficial epidermolytic ichthyosis + + + Preferential parent + + + + + + 2273 + Ichthyosis follicularis-alopecia-photophobia syndrome + + + Preferential parent + + + + + + 2309 + Pachyonychia congenita + + + Preferential parent + + + + + + 2325 + Epidermolysis bullosa simplex with anodontia/hypodontia + + + Preferential parent + + + + + + 2337 + Diffuse palmoplantar keratoderma, Bothnian type + + + Preferential parent + + + + + + 2338 + Isolated punctate palmoplantar keratoderma + + + Preferential parent + + + + + + 494 + Keratoderma hereditarium mutilans + + + Preferential parent + + + + + + 2340 + Keratosis follicularis spinulosa decalvans + + + Preferential parent + + + + + + 2386 + Leukoencephalopathy-palmoplantar keratoderma syndrome + + + Preferential parent + + + + + + 2387 + Leukonychia totalis + + + Preferential parent + + + + + + 2396 + Encephalocraniocutaneous lipomatosis + + + Preferential parent + + + + + + 2407 + Laryngo-onycho-cutaneous syndrome + + + Preferential parent + + + + + + 2435 + Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome + + + Preferential parent + + + + + + 2481 + Neurocutaneous melanocytosis + + + Preferential parent + + + + + + 2483 + Melkersson-Rosenthal syndrome + + + Preferential parent + + + + + + 2500 + Acrogeria + + + Preferential parent + + + + + + 2505 + Multiple benign circumferential skin creases on limbs + + + Preferential parent + + + + + + 2678 + Familial isolated café-au-lait macules + + + Preferential parent + + + + + + 2698 + Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome + + + Preferential parent + + + + + + 678 + Papillon-Lefèvre syndrome + + + Preferential parent + + + + + + 2812 + Parana hard skin syndrome + + + Preferential parent + + + + + + 2833 + Stiff skin syndrome + + + Preferential parent + + + + + + 2834 + Wrinkly skin syndrome + + + Preferential parent + + + + + + 2884 + Piebaldism + + + Preferential parent + + + + + + 2885 + Piebald trait-neurologic defects syndrome + + + Preferential parent + + + + + + 2889 + Pili torti + + + Preferential parent + + + + + + 2891 + Pili torti-developmental delay-neurological abnormalities syndrome + + + Preferential parent + + + + + + 2907 + Hereditary acrokeratotic poikiloderma + + + Preferential parent + + + + + + 2987 + Antecubital pterygium syndrome + + + Preferential parent + + + + + + 3110 + Rombo syndrome + + + Preferential parent + + + + + + 3361 + Trichodysplasia-xeroderma syndrome + + + Preferential parent + + + + + + 3387 + Isolated anterior cervical hypertrichosis + + + Preferential parent + + + + + + 3243 + Sweet syndrome + + + Preferential parent + + + + + + 1114 + Aplasia cutis congenita + + + Preferential parent + + + + + + 910 + Xeroderma pigmentosum + + + Preferential parent + + + + + + 2591 + Infantile myofibromatosis + + + Preferential parent + + + + + + 209 + Cutis laxa + + + Preferential parent + + + + + + 2841 + Hailey-Hailey disease + + + Preferential parent + + + + + + 2611 + Linear verrucous nevus syndrome + + + Preferential parent + + + + + + 758 + Pseudoxanthoma elasticum + + + Preferential parent + + + + + + 257 + Epidermolysis bullosa simplex with muscular dystrophy + + + Preferential parent + + + + + + 537 + Toxic epidermal necrolysis + + + Preferential parent + + + + + + 317 + Erythrokeratodermia variabilis + + + Preferential parent + + + + + + 302 + Inherited epidermodysplasia verruciformis + + + Preferential parent + + + + + + 529 + Roch-Leri mesosomatous lipomatosis + + + Preferential parent + + + + + + 129 + Pseudopelade of Brocq + + + Preferential parent + + + + + + 345 + Dissecting cellulitis of the scalp + + + Preferential parent + + + + + + 168 + Loose anagen syndrome + + + Preferential parent + + + + + + 169 + Ringed hair disease + + + Preferential parent + + + + + + 170 + Woolly hair + + + Preferential parent + + + + + + 222 + Erosive pustular dermatosis of the scalp + + + Preferential parent + + + + + + 346 + Quinquaud folliculitis decalvans + + + Preferential parent + + + + + + 505 + Graham Little-Piccardi-Lassueur syndrome + + + Preferential parent + + + + + + 2221 + Acquired hypertrichosis lanuginosa + + + Preferential parent + + + + + + 444 + Marie Unna hereditary hypotrichosis + + + Preferential parent + + + + + + 499 + Kerion celsi + + + Preferential parent + + + + + + 492 + Proliferating trichilemmal cyst + + + Preferential parent + + + + + + 525 + Lichen planopilaris + + + Preferential parent + + + + + + 573 + Monilethrix + + + Preferential parent + + + + + + 840 + Syringocystadenoma papilliferum + + + Preferential parent + + + + + + 700 + Alopecia totalis + + + Preferential parent + + + + + + 671 + Primary cutis verticis gyrata + + + Preferential parent + + + + + + 720 + Pili bifurcati + + + Preferential parent + + + + + + 864 + Trichofolliculoma + + + Preferential parent + + + + + + 2908 + Kindler epidermolysis bullosa + + + Preferential parent + + + + + + 3406 + Ulerythema ophryogenesis + + + Preferential parent + + + + + + 305 + Junctional epidermolysis bullosa + + + Preferential parent + + + + + + 303 + Dystrophic epidermolysis bullosa + + + Preferential parent + + + + + + 38 + Acrokeratoelastoidosis of Costa + + + Preferential parent + + + + + + 39 + Acromelanosis + + + Preferential parent + + + + + + 41 + Dyschromatosis symmetrica hereditaria + + + Preferential parent + + + + + + 211 + Familial cylindromatosis + + + Preferential parent + + + + + + 241 + Dyschromatosis universalis hereditaria + + + Preferential parent + + + + + + 316 + Progressive symmetric erythrokeratodermia + + + Preferential parent + + + + + + 315 + Erythrokeratoderma ''en cocardes'' + + + Preferential parent + + + + + + 384 + Huriez syndrome + + + Preferential parent + + + + + + 409 + Hyperkeratosis lenticularis perstans + + + Preferential parent + + + + + + 454 + Acquired ichthyosis + + + Preferential parent + + + + + + 493 + Familial keratoacanthoma + + + Preferential parent + + + + + + 498 + Keratosis pilaris atrophicans + + + Preferential parent + + + + + + 314 + Erythroderma desquamativum + + + Preferential parent + + + + + + 530 + Lipoid proteinosis + + + Preferential parent + + + + + + 659 + Mutilating palmoplantar keratoderma with periorificial keratotic plaques + + + Preferential parent + + + + + + 735 + Porokeratosis of Mibelli + + + Preferential parent + + + + + + 737 + Porokeratosis plantaris palmaris et disseminata + + + Preferential parent + + + + + + 841 + Sebocystomatosis + + + Preferential parent + + + + + + 817 + Peeling skin syndrome + + + Preferential parent + + + + + + 867 + Familial multiple trichoepithelioma + + + Preferential parent + + + + + + 679 + Malignant atrophic papulosis + + + Preferential parent + + + + + + 901 + Wells syndrome + + + Preferential parent + + + + + + 703 + Bullous pemphigoid + + + Preferential parent + + + + + + 33314 + Jessner lymphocytic infiltration of the skin + + + Preferential parent + + + + + + 33408 + Bullous lichen planus + + + Preferential parent + + + + + + 33577 + Nodular non-suppurative panniculitis + + + Preferential parent + + + + + + 36397 + Adiposis dolorosa + + + Preferential parent + + + + + + 36426 + Stevens-Johnson syndrome + + + Preferential parent + + + + + + 37559 + Acquired kinky hair syndrome + + + Preferential parent + + + + + + 68346 + Rare genetic skin disease + + + Preferential parent + + + + + + 46485 + Superficial pemphigus + + + Preferential parent + + + + + + 46486 + Mucous membrane pemphigoid + + + Preferential parent + + + + + + 46487 + Epidermolysis bullosa acquisita + + + Preferential parent + + + + + + 46488 + Linear IgA dermatosis + + + Preferential parent + + + + + + 48377 + Subcorneal pustular dermatosis + + + Preferential parent + + + + + + 49804 + Lichen amyloidosis + + + Preferential parent + + + + + + 50942 + Striate palmoplantar keratoderma + + + Preferential parent + + + + + + 50943 + Keratolytic winter erythema + + + Preferential parent + + + + + + 53296 + Familial cutaneous collagenoma + + + Preferential parent + + + + + + 53715 + Familial tumoral calcinosis + + + Preferential parent + + + + + + 55654 + Hypotrichosis simplex + + + Preferential parent + + + + + + 63275 + Pemphigoid gestationis + + + Preferential parent + + + + + + 63455 + Paraneoplastic pemphigus + + + Preferential parent + + + + + + 64745 + Pruritic urticarial papules and plaques of pregnancy + + + Preferential parent + + + + + + 64754 + Nevus comedonicus syndrome + + + Preferential parent + + + + + + 64755 + Becker nevus syndrome + + + Preferential parent + + + + + + 65748 + Multiple self-healing squamous epithelioma + + + Preferential parent + + + + + + 66646 + Cutaneous mastocytosis + + + Preferential parent + + + + + + 69125 + Anonychia with flexural pigmentation + + + Preferential parent + + + + + + 69735 + Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome + + + Preferential parent + + + + + + 69744 + Circumscribed palmoplantar hypokeratosis + + + Preferential parent + + + + + + 69745 + Warty dyskeratoma + + + Preferential parent + + + + + + 79100 + Atrophoderma vermiculata + + + Preferential parent + + + + + + 79141 + Hereditary painful callosities + + + Preferential parent + + + + + + 79143 + Isolated congenital anonychia + + + Preferential parent + + + + + + 79144 + Isolated congenital onychodysplasia + + + Preferential parent + + + + + + 79145 + Dowling-Degos disease + + + Preferential parent + + + + + + 79146 + Familial progressive hyperpigmentation + + + Preferential parent + + + + + + 79147 + Familial reactive perforating collagenosis + + + Preferential parent + + + + + + 79148 + Elastosis perforans serpiginosa + + + Preferential parent + + + + + + 79150 + Linear and whorled nevoid hypermelanosis + + + Preferential parent + + + + + + 79151 + Acrokeratosis verruciformis of Hopf + + + Preferential parent + + + + + + 79152 + Disseminated superficial actinic porokeratosis + + + Preferential parent + + + + + + 79153 + Idiopathic trachyonychia + + + Preferential parent + + + + + + 79353 + Epidermal disease + + + Preferential parent + + + + + + 79354 + Ichthyosis + + + Preferential parent + + + + + + 79355 + Erythrokeratoderma + + + Preferential parent + + + + + + 79356 + Acrokeratoderma + + + Preferential parent + + + + + + 79357 + Hereditary palmoplantar keratoderma + + + Preferential parent + + + + + + 79358 + Porokeratosis + + + Preferential parent + + + + + + 79359 + Other epidermal disorder + + + Preferential parent + + + + + + 79360 + Other genetic epidermal disease + + + Preferential parent + + + + + + 79361 + Inherited epidermolysis bullosa + + + Preferential parent + + + + + + 79362 + Epidermal appendage anomaly + + + Preferential parent + + + + + + 79363 + Hair anomaly + + + Preferential parent + + + + + + 79364 + Alopecia + + + Preferential parent + + + + + + 79365 + Rare disorder with hypertrichosis + + + Preferential parent + + + + + + 79366 + Isolated hair shaft abnormality + + + Preferential parent + + + + + + 79367 + Syndromic hair shaft abnormality + + + Preferential parent + + + + + + 79368 + Nail anomaly + + + Preferential parent + + + + + + 79369 + Isolated nail anomaly + + + Preferential parent + + + + + + 79370 + Syndromic nail anomaly + + + Preferential parent + + + + + + 79372 + Sebaceous gland anomaly + + + Preferential parent + + + + + + 79373 + Ectodermal dysplasia syndrome + + + Preferential parent + + + + + + 79374 + Pigmentation anomaly of the skin + + + Preferential parent + + + + + + 79375 + Hyperpigmentation of the skin + + + Preferential parent + + + + + + 79376 + Hypopigmentation of the skin + + + Preferential parent + + + + + + 79377 + Dermis disorder + + + Preferential parent + + + + + + 79378 + Dermis elastic tissue disorder + + + Preferential parent + + + + + + 79379 + Skin vascular disease + + + Preferential parent + + + + + + 79380 + Mixed dermis disorder + + + Preferential parent + + + + + + 79381 + Other dermis disorder + + + Preferential parent + + + + + + 79382 + Subcutaneous tissue disease + + + Preferential parent + + + + + + 79384 + Rare urticaria + + + Preferential parent + + + + + + 79385 + Unclassified genetic skin disorder + + + Preferential parent + + + + + + 79386 + Rare skin tumor or hamartoma + + + Preferential parent + + + + + + 79387 + Metabolic disease with skin involvement + + + Preferential parent + + + + + + 79388 + Mucopolysaccharidosis with skin involvement + + + Preferential parent + + + + + + 79389 + Premature aging + + + Preferential parent + + + + + + 79390 + Rare photodermatosis + + + Preferential parent + + + + + + 79391 + Immune deficiency with skin involvement + + + Preferential parent + + + + + + 79394 + Congenital ichthyosiform erythroderma + + + Preferential parent + + + + + + 79395 + Keratoderma hereditarium mutilans with ichthyosis + + + Preferential parent + + + + + + 79396 + Autosomal dominant generalized epidermolysis bullosa simplex, severe form + + + Preferential parent + + + + + + 79397 + Epidermolysis bullosa simplex with mottled pigmentation + + + Preferential parent + + + + + + 79399 + Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form + + + Preferential parent + + + + + + 79400 + Localized epidermolysis bullosa simplex + + + Preferential parent + + + + + + 79401 + PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement + + + Preferential parent + + + + + + 79402 + Intermediate generalized junctional epidermolysis bullosa + + + Preferential parent + + + + + + 79403 + Junctional epidermolysis bullosa with pyloric atresia + + + Preferential parent + + + + + + 79404 + Severe generalized junctional epidermolysis bullosa + + + Preferential parent + + + + + + 79405 + Junctional epidermolysis bullosa inversa + + + Preferential parent + + + + + + 79406 + Late-onset junctional epidermolysis bullosa + + + Preferential parent + + + + + + 79408 + Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form + + + Preferential parent + + + + + + 79409 + Recessive dystrophic epidermolysis bullosa inversa + + + Preferential parent + + + + + + 79410 + Localized dystrophic epidermolysis bullosa, pretibial form + + + Preferential parent + + + + + + 79411 + Self-improving dystrophic epidermolysis bullosa + + + Preferential parent + + + + + + 79414 + Woolly hair nevus + + + Preferential parent + + + + + + 79431 + Oculocutaneous albinism type 1A + + + Preferential parent + + + + + + 79432 + Oculocutaneous albinism type 2 + + + Preferential parent + + + + + + 79433 + Oculocutaneous albinism type 3 + + + Preferential parent + + + + + + 79434 + Oculocutaneous albinism type 1B + + + Preferential parent + + + + + + 79435 + Oculocutaneous albinism type 4 + + + Preferential parent + + + + + + 79455 + Cutaneous mastocytoma + + + Preferential parent + + + + + + 79456 + Diffuse cutaneous mastocytosis + + + Preferential parent + + + + + + 79457 + Maculopapular cutaneous mastocytosis + + + Preferential parent + + + + + + 79466 + Inflammatory linear verrucous epidermal nevus + + + Preferential parent + + + + + + 79467 + Verrucous nevus + + + Preferential parent + + + + + + 79468 + Acanthokeratolytic verrucous nevus + + + Preferential parent + + + + + + 79476 + Griscelli syndrome type 1 + + + Preferential parent + + + + + + 79477 + Griscelli syndrome type 2 + + + Preferential parent + + + + + + 79478 + Griscelli syndrome type 3 + + + Preferential parent + + + + + + 79479 + Pemphigus vegetans + + + Preferential parent + + + + + + 79480 + Pemphigus erythematosus + + + Preferential parent + + + + + + 79481 + Pemphigus foliaceus + + + Preferential parent + + + + + + 79492 + Pili gemini + + + Preferential parent + + + + + + 79493 + Brooke-Spiegler syndrome + + + Preferential parent + + + + + + 79495 + X-linked congenital generalized hypertrichosis + + + Preferential parent + + + + + + 79501 + Punctate palmoplantar keratoderma type 1 + + + Preferential parent + + + + + + 79502 + Punctate palmoplantar keratoderma type 2 + + + Preferential parent + + + + + + 79503 + Ichthyosis hystrix of Curth-Macklin + + + Preferential parent + + + + + + 79669 + Autoimmune bullous skin disease + + + Preferential parent + + + + + + 85453 + X-linked reticulate pigmentary disorder + + + Preferential parent + + + + + + 86795 + Localized lichen myxedematosus + + + Preferential parent + + + + + + 86797 + Atypical lichen myxedematosus + + + Preferential parent + + + + + + 86819 + Atrichia with papular lesions + + + Preferential parent + + + + + + 86918 + Diffuse palmoplantar keratoderma-acrocyanosis syndrome + + + Preferential parent + + + + + + 86919 + Keratosis palmaris et plantaris-clinodactyly syndrome + + + Preferential parent + + + + + + 86920 + Dermatopathia pigmentosa reticularis + + + Preferential parent + + + + + + 87503 + Mal de Meleda + + + Preferential parent + + + + + + 88621 + Ichthyosis-prematurity syndrome + + + Preferential parent + + + + + + 89838 + Autosomal recessive generalized epidermolysis bullosa simplex + + + Preferential parent + + + + + + 89842 + Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form + + + Preferential parent + + + + + + 89843 + Dystrophic epidermolysis bullosa pruriginosa + + + Preferential parent + + + + + + 90000 + Erythema elevatum diutinum + + + Preferential parent + + + + + + 90077 + Other acquired skin disease + + + Preferential parent + + + + + + 90156 + Centrifugal lipodystrophy + + + Preferential parent + + + + + + 90157 + Drug-induced localized lipodystrophy + + + Preferential parent + + + + + + 90158 + Idiopathic localized lipodystrophy + + + Preferential parent + + + + + + 90159 + Panniculitis-induced localized lipodystrophy + + + Preferential parent + + + + + + 90160 + Pressure-induced localized lipoatrophy + + + Preferential parent + + + + + + 90280 + Chilblain lupus + + + Preferential parent + + + + + + 90281 + Discoid lupus erythematosus + + + Preferential parent + + + + + + 90282 + Hypertrophic or verrucous lupus erythematosus + + + Preferential parent + + + + + + 90283 + Lupus erythematosus tumidus + + + Preferential parent + + + + + + 90285 + Lupus erythematosus panniculitis + + + Preferential parent + + + + + + 90289 + Localized scleroderma + + + Preferential parent + + + + + + 90342 + Xeroderma pigmentosum variant + + + Preferential parent + + + + + + 90348 + Autosomal dominant cutis laxa + + + Preferential parent + + + + + + 90349 + Autosomal recessive cutis laxa type 1 + + + Preferential parent + + + + + + 90350 + Autosomal recessive cutis laxa type 2 + + + Preferential parent + + + + + + 90368 + Hypotrichosis simplex of the scalp + + + Preferential parent + + + + + + 90389 + Telangiectasia macularis eruptiva perstans + + + Preferential parent + + + + + + 90390 + Anonychia-onychodystrophy syndrome + + + Preferential parent + + + + + + 90393 + Nodular lichen myxedematosus + + + Preferential parent + + + + + + 90394 + Discrete papular lichen myxedematosus + + + Preferential parent + + + + + + 90395 + Papular mucinosis of infancy + + + Preferential parent + + + + + + 90396 + Acral persistent papular mucinosis + + + Preferential parent + + + + + + 90397 + Self-healing papular mucinosis + + + Preferential parent + + + + + + 90398 + Localized lichen myxedematosus with mixed features of different subtypes + + + Preferential parent + + + + + + 90399 + Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms + + + Preferential parent + + + + + + 90400 + Scleromyxedema without monoclonal gammopathy + + + Preferential parent + + + + + + 91132 + Ichthyosis-hypotrichosis syndrome + + + Preferential parent + + + + + + 91135 + Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency + + + Preferential parent + + + + + + 91414 + Pilomatrixoma + + + Preferential parent + + + + + + 94087 + Cytophagic histiocytic panniculitis + + + Preferential parent + + + + + + 94150 + Anonychia congenita totalis + + + Preferential parent + + + + + + 95429 + Angioma serpiginosum + + + Preferential parent + + + + + + 95455 + Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum + + + Preferential parent + + + + + + 97230 + Solar urticaria + + + Preferential parent + + + + + + 97352 + Pellagra + + + Preferential parent + + + + + + 98349 + Autosomal dominant isolated diffuse palmoplantar keratoderma + + + Preferential parent + + + + + + 98352 + Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 98353 + Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 98356 + Autosomal recessive isolated diffuse palmoplantar keratoderma + + + Preferential parent + + + + + + 98357 + Autosomal recessive disease with focal palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 98907 + Neutral lipid storage disease with ichthyosis + + + Preferential parent + + + + + + 99710 + Punctate acrokeratoderma freckle-like pigmentation + + + Preferential parent + + + + + + 100976 + Bathing suit ichthyosis + + + Preferential parent + + + + + + 137605 + Legius syndrome + + + Preferential parent + + + + + + 137617 + Nephrogenic systemic fibrosis + + + Preferential parent + + + + + + 137810 + Nodular cutaneous amyloidosis + + + Preferential parent + + + + + + 137814 + Macular amyloidosis + + + Preferential parent + + + + + + 139402 + Drug reaction with eosinophilia and systemic symptoms + + + Preferential parent + + + + + + 139414 + Congenital panfollicular nevus + + + Preferential parent + + + + + + 140933 + Linear atrophoderma of Moulin + + + Preferential parent + + + + + + 140966 + Palmoplantar keratoderma, Nagashima type + + + Preferential parent + + + + + + 157991 + Generalized eruptive histiocytosis + + + Preferential parent + + + + + + 157997 + Benign cephalic histiocytosis + + + Preferential parent + + + + + + 158000 + Juvenile xanthogranuloma + + + Preferential parent + + + + + + 158003 + Xanthoma disseminatum + + + Preferential parent + + + + + + 158008 + Papular xanthoma + + + Preferential parent + + + + + + 158011 + Necrobiotic xanthogranuloma + + + Preferential parent + + + + + + 158019 + Indeterminate cell histiocytosis + + + Preferential parent + + + + + + 158022 + Progressive nodular histiocytosis + + + Preferential parent + + + + + + 158025 + Hereditary progressive mucinous histiocytosis + + + Preferential parent + + + + + + 158668 + Ectodermal dysplasia-skin fragility syndrome + + + Preferential parent + + + + + + 158673 + Localized dystrophic epidermolysis bullosa, acral form + + + Preferential parent + + + + + + 158676 + Localized dystrophic epidermolysis bullosa, nails only + + + Preferential parent + + + + + + 158681 + Epidermolysis bullosa simplex with circinate migratory erythema + + + Preferential parent + + + + + + 158684 + Epidermolysis bullosa simplex with pyloric atresia + + + Preferential parent + + + + + + 158687 + Lethal acantholytic erosive disorder + + + Preferential parent + + + + + + 158766 + Typical urticaria pigmentosa + + + Preferential parent + + + + + + 158769 + Plaque-form urticaria pigmentosa + + + Preferential parent + + + + + + 158772 + Nodular urticaria pigmentosa + + + Preferential parent + + + + + + 163525 + Subacute cutaneous lupus erythematosus + + + Preferential parent + + + + + + 163531 + Chronic cutaneous lupus erythematosus + + + Preferential parent + + + + + + 163927 + Pustulosis palmaris et plantaris + + + Preferential parent + + + + + + 163931 + Acrodermatitis continua of Hallopeau + + + Preferential parent + + + + + + 166113 + Bazex syndrome + + + Preferential parent + + + + + + 166286 + Porokeratotic eccrine ostial and dermal duct nevus + + + Preferential parent + + + + + + 167635 + Scleromyxedema + + + Preferential parent + + + + + + 168569 + H syndrome + + + Preferential parent + + + + + + 168606 + Seborrhea-like dermatitis with psoriasiform elements + + + Preferential parent + + + + + + 168632 + Generalized basaloid follicular hamartoma syndrome + + + Preferential parent + + + + + + 171723 + White sponge nevus + + + Preferential parent + + + + + + 178307 + Reticulate acropigmentation of Kitamura + + + Preferential parent + + + + + + 178338 + UV-sensitive syndrome + + + Preferential parent + + + + + + 182734 + Genetic urticaria + + + Preferential parent + + + + + + 183426 + Genetic epidermal disorder + + + Preferential parent + + + + + + 183435 + Inherited ichthyosis + + + Preferential parent + + + + + + 183438 + Genetic erythrokeratoderma + + + Preferential parent + + + + + + 183441 + Genetic acrokeratoderma + + + Preferential parent + + + + + + 183444 + Genetic porokeratosis + + + Preferential parent + + + + + + 183447 + Genetic epidermal appendage anomaly + + + Preferential parent + + + + + + 183450 + Genetic hair anomaly + + + Preferential parent + + + + + + 183454 + Genetic nail anomaly + + + Preferential parent + + + + + + 183460 + Genetic sebaceous gland anomaly + + + Preferential parent + + + + + + 183463 + Genetic pigmentation anomaly of the skin + + + Preferential parent + + + + + + 183466 + Genetic hyperpigmentation of the skin + + + Preferential parent + + + + + + 183469 + Genetic hypopigmentation of the skin + + + Preferential parent + + + + + + 183472 + Genetic dermis disorder + + + Preferential parent + + + + + + 183478 + Genetic skin vascular disorder + + + Preferential parent + + + + + + 183481 + Genetic mixed dermis disorder + + + Preferential parent + + + + + + 183484 + Genetic subcutaneous tissue disorder + + + Preferential parent + + + + + + 183490 + Genetic photodermatosis + + + Preferential parent + + + + + + 199251 + Ledderhose disease + + + Preferential parent + + + + + + 199257 + Superficial fibromatosis + + + Preferential parent + + + + + + 199276 + Familial multiple lipomatosis + + + Preferential parent + + + + + + 199279 + Familial angiolipomatosis + + + Preferential parent + + + + + + 208524 + Herpetiform pemphigus + + + Preferential parent + + + + + + 210133 + Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome + + + Preferential parent + + + + + + 217407 + Hereditary hypotrichosis with recurrent skin vesicles + + + Preferential parent + + + + + + 220295 + Xeroderma pigmentosum-Cockayne syndrome complex + + + Preferential parent + + + + + + 221039 + Hereditary sclerosing poikiloderma, Weary type + + + Preferential parent + + + + + + 221043 + Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome + + + Preferential parent + + + + + + 221046 + Poikiloderma with neutropenia + + + Preferential parent + + + + + + 221142 + Confetti-like macular atrophy + + + Preferential parent + + + + + + 222628 + Hereditary poikiloderma + + + Preferential parent + + + + + + 228215 + Genetic dermis elastic tissue disorder + + + Preferential parent + + + + + + 228218 + Acquired dermis elastic tissue disorder + + + Preferential parent + + + + + + 228221 + Acquired dermis elastic tissue disorder with decreased elastic tissue + + + Preferential parent + + + + + + 228224 + Acquired dermis elastic tissue disorder with increased elastic tissue + + + Preferential parent + + + + + + 228227 + Late-onset focal dermal elastosis + + + Preferential parent + + + + + + 228236 + Linear focal elastosis + + + Preferential parent + + + + + + 228240 + Elastoderma + + + Preferential parent + + + + + + 228243 + Elastofibroma dorsi + + + Preferential parent + + + + + + 228247 + Acquired pseudoxanthoma elasticum + + + Preferential parent + + + + + + 228254 + Elastoma + + + Preferential parent + + + + + + 228264 + Papular elastorrhexis + + + Preferential parent + + + + + + 228272 + Primary anetoderma + + + Preferential parent + + + + + + 228277 + Familial anetoderma + + + Preferential parent + + + + + + 228285 + Acquired cutis laxa + + + Preferential parent + + + + + + 228290 + White fibrous papulosis of the neck + + + Preferential parent + + + + + + 228293 + Pseudoxanthoma elasticum-like papillary dermal elastolysis + + + Preferential parent + + + + + + 228299 + Mid-dermal elastolysis + + + Preferential parent + + + + + + 228379 + Virus-associated trichodysplasia spinulosa + + + Preferential parent + + + + + + 231031 + Erythema palmare hereditarium + + + Preferential parent + + + + + + 231040 + Familial generalized lentiginosis + + + Preferential parent + + + + + + 231556 + Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome + + + Preferential parent + + + + + + 231568 + Autosomal dominant generalized dystrophic epidermolysis bullosa + + + Preferential parent + + + + + + 231573 + Congenital erosive and vesicular dermatosis + + + Preferential parent + + + + + + 247353 + Generalized pustular psoriasis + + + Preferential parent + + + + + + 251393 + Localized junctional epidermolysis bullosa + + + Preferential parent + + + + + + 254367 + Rare lichen planus + + + Preferential parent + + + + + + 254370 + Rare cutaneous lichen planus + + + Preferential parent + + + + + + 254373 + Rare mucosal lichen planus + + + Preferential parent + + + + + + 254379 + Linear lichen planus + + + Preferential parent + + + + + + 254395 + Actinic lichen planus + + + Preferential parent + + + + + + 254411 + Annular atrophic lichen planus + + + Preferential parent + + + + + + 254424 + Annular lichen planus + + + Preferential parent + + + + + + 254449 + Atrophic lichen planus + + + Preferential parent + + + + + + 254463 + Lichen planus pigmentosus + + + Preferential parent + + + + + + 254478 + Lichen planus pemphigoides + + + Preferential parent + + + + + + 254492 + Frontal fibrosing alopecia + + + Preferential parent + + + + + + 263425 + Nevus of Ota + + + Preferential parent + + + + + + 263432 + Nevus of Ito + + + Preferential parent + + + + + + 263435 + Congenital smooth muscle hamartoma + + + Preferential parent + + + + + + 263534 + Acral peeling skin syndrome + + + Preferential parent + + + + + + 263543 + Generalized peeling skin syndrome + + + Preferential parent + + + + + + 263548 + Peeling skin syndrome type A + + + Preferential parent + + + + + + 263553 + Peeling skin syndrome type B + + + Preferential parent + + + + + + 271832 + Genetic soft tissue tumor + + + Preferential parent + + + + + + 280379 + Erythropoietic uroporphyria associated with myeloid malignancy + + + Preferential parent + + + + + + 280628 + Familial progressive hyper- and hypopigmentation + + + Preferential parent + + + + + + 280654 + Autosomal recessive nail dysplasia + + + Preferential parent + + + + + + 280774 + Generalized essential telangiectasia + + + Preferential parent + + + + + + 280779 + Cutaneous collagenous vasculopathy + + + Preferential parent + + + + + + 280785 + Bullous diffuse cutaneous mastocytosis + + + Preferential parent + + + + + + 280794 + Pseudoxanthomatous diffuse cutaneous mastocytosis + + + Preferential parent + + + + + + 281082 + Inherited non-syndromic ichthyosis + + + Preferential parent + + + + + + 281085 + Inherited ichthyosis syndromic form + + + Preferential parent + + + + + + 281090 + Syndromic recessive X-linked ichthyosis + + + Preferential parent + + + + + + 281097 + Autosomal recessive congenital ichthyosis + + + Preferential parent + + + + + + 281103 + Keratinopathic ichthyosis + + + Preferential parent + + + + + + 281122 + Self-improving collodion baby + + + Preferential parent + + + + + + 281127 + Acral self-healing collodion baby + + + Preferential parent + + + + + + 281139 + Annular epidermolytic ichthyosis + + + Preferential parent + + + + + + 281190 + Congenital reticular ichthyosiform erythroderma + + + Preferential parent + + + + + + 281201 + Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome + + + Preferential parent + + + + + + 281210 + X-linked ichthyosis syndrome + + + Preferential parent + + + + + + 281217 + Autosomal ichthyosis syndrome + + + Preferential parent + + + + + + 281222 + Autosomal ichthyosis syndrome with prominent hair abnormalities + + + Preferential parent + + + + + + 281238 + Autosomal ichthyosis syndrome with prominent neurologic signs + + + Preferential parent + + + + + + 281241 + Autosomal ichthyosis syndrome with fatal disease course + + + Preferential parent + + + + + + 281244 + Autosomal ichthyosis syndrome with other associated signs + + + Preferential parent + + + + + + 289478 + PASH syndrome + + + Preferential parent + + + + + + 289586 + Exfoliative ichthyosis + + + Preferential parent + + + + + + 290836 + Systemic disease with skin involvement + + + Preferential parent + + + + + + 290842 + Autoinflammatory syndrome with skin involvement + + + Preferential parent + + + + + + 293165 + Skin fragility-woolly hair-palmoplantar keratoderma syndrome + + + Preferential parent + + + + + + 293173 + Acute generalized exanthematous pustulosis + + + Preferential parent + + + + + + 293812 + Fixed drug eruption + + + Preferential parent + + + + + + 293815 + Toxic dermatosis + + + Preferential parent + + + + + + 294057 + Rare nevus + + + Preferential parent + + + + + + 306658 + Familial normophosphatemic tumoral calcinosis + + + Preferential parent + + + + + + 306661 + Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome + + + Preferential parent + + + + + + 307141 + Diffuse palmoplantar keratoderma + + + Preferential parent + + + + + + 307148 + Isolated diffuse palmoplantar keratoderma + + + Preferential parent + + + + + + 307711 + Disease with diffuse palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 307773 + Autosomal dominant diffuse mutilating palmoplantar keratoderma + + + Preferential parent + + + + + + 307804 + Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 307837 + Focal palmoplantar keratoderma + + + Preferential parent + + + + + + 307846 + Isolated focal palmoplantar keratoderma + + + Preferential parent + + + + + + 307871 + Disease with focal palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 307967 + Punctate palmoplantar keratoderma + + + Preferential parent + + + + + + 307995 + Marginal papular palmoplantar keratoderma + + + Preferential parent + + + + + + 308013 + Focal acral hyperkeratosis + + + Preferential parent + + + + + + 308023 + Disease with punctate palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 308031 + Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 308041 + Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature + + + Preferential parent + + + + + + 308166 + Erythrokeratoderma variabilis progressiva + + + Preferential parent + + + + + + 313846 + Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome + + + Preferential parent + + + + + + 313936 + PENS syndrome + + + Preferential parent + + + + + + 315350 + Autoimmune disease with skin involvement + + + Preferential parent + + + + + + 319635 + Amyloidosis cutis dyschromia + + + Preferential parent + + + + + + 324561 + Hypopigmentation-punctate palmoplantar keratoderma syndrome + + + Preferential parent + + + + + + 330029 + Hypotrichosis-deafness syndrome + + + Preferential parent + + + + + + 330058 + Hydroa vacciniforme + + + Preferential parent + + + + + + 330061 + Actinic prurigo + + + Preferential parent + + + + + + 330064 + Chronic actinic dermatitis + + + Preferential parent + + + + + + 352333 + Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome + + + Preferential parent + + + + + + 352731 + Oculocutaneous albinism type 1 + + + Preferential parent + + + + + + 352734 + Minimal pigment oculocutaneous albinism type 1 + + + Preferential parent + + + + + + 352737 + Temperature-sensitive oculocutaneous albinism type 1 + + + Preferential parent + + + + + + 352745 + Oculocutaneous albinism type 7 + + + Preferential parent + + + + + + 352763 + Scleredema + + + Preferential parent + + + + + + 353220 + Familial primary localized cutaneous amyloidosis + + + Preferential parent + + + + + + 357058 + Autosomal recessive cutis laxa type 2A + + + Preferential parent + + + + + + 357064 + Autosomal recessive cutis laxa type 2B + + + Preferential parent + + + + + + 357074 + Autosomal recessive cutis laxa type 2, classic type + + + Preferential parent + + + + + + 357220 + Primary essential cutis verticis gyrata + + + Preferential parent + + + + + + 357225 + Primary non-essential cutis verticis gyrata + + + Preferential parent + + + + + + 363649 + Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome + + + Preferential parent + + + + + + 363665 + Acroosteolysis-keloid-like lesions-premature aging syndrome + + + Preferential parent + + + + + + 369992 + Severe dermatitis-multiple allergies-metabolic wasting syndrome + + + Preferential parent + + + + + + 369999 + Diffuse palmoplantar keratoderma with painful fissures + + + Preferential parent + + + + + + 370002 + Focal palmoplantar keratoderma with joint keratoses + + + Preferential parent + + + + + + 370039 + Angora hair nevus + + + Preferential parent + + + + + + 370046 + Didymosis aplasticosebacea + + + Preferential parent + + + + + + 370052 + SCALP syndrome + + + Preferential parent + + + + + + 370059 + NEVADA syndrome + + + Preferential parent + + + + + + 370091 + Oculocutaneous albinism type 5 + + + Preferential parent + + + + + + 370097 + Oculocutaneous albinism type 6 + + + Preferential parent + + + + + + 398166 + Focal facial dermal dysplasia + + + Preferential parent + + + + + + 398173 + Focal facial dermal dysplasia type II + + + Preferential parent + + + + + + 398189 + Focal facial dermal dysplasia type IV + + + Preferential parent + + + + + + 402003 + Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering + + + Preferential parent + + + + + + 402007 + Lichen myxedematosus + + + Preferential parent + + + + + + 411777 + Generalized eruptive keratoacanthoma + + + Preferential parent + + + + + + 411788 + Familial isolated trichomegaly + + + Preferential parent + + + + + + 412181 + Epidermolysis bullosa simplex due to BP230 deficiency + + + Preferential parent + + + + + + 412189 + Epidermolysis bullosa simplex due to exophilin 5 deficiency + + + Preferential parent + + + + + + 420686 + Woolly hair-palmoplantar keratoderma syndrome + + + Preferential parent + + + + + + 434809 + Syndrome with woolly hair + + + Preferential parent + + + + + + 439196 + Zinc-responsive necrolytic acral erythema + + + Preferential parent + + + + + + 444138 + Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome + + + Preferential parent + + + + + + 448264 + Isolated focal non-epidermolytic palmoplantar keratoderma + + + Preferential parent + + + + + + 451602 + Primary cutaneous plasmacytosis + + + Preferential parent + + + + + + 451607 + Cutaneous pseudolymphoma + + + Preferential parent + + + + + + 454710 + Anti-p200 pemphigoid + + + Preferential parent + + + + + + 468666 + Isolated generalized anhidrosis with normal sweat glands + + + Preferential parent + + + + + + 476096 + Erythrokeratodermia-cardiomyopathy syndrome + + + Preferential parent + + + + + + 477742 + Nodular fasciitis + + + Preferential parent + + + + + + 477808 + Other genetic dermis disorder + + + Preferential parent + + + + + + 481662 + Familial Chilblain lupus + + + Preferential parent + + + + + + 481771 + Genetic alopecia + + + Preferential parent + + + + + + 493342 + Vibratory urticaria + + + Preferential parent + + + + + + 497737 + Epidermolytic nevus + + + Preferential parent + + + + + + 497757 + MME-related autosomal dominant Charcot Marie Tooth disease type 2 + + + Preferential parent + + + + + + 498359 + Aquagenic palmoplantar keratoderma + + + Preferential parent + + + + + + 499182 + Pilomatrix carcinoma + + + Preferential parent + + + + + + 502499 + Erythema multiforme major + + + Preferential parent + + + + + + 506784 + Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome + + + Preferential parent + + + + + + 508512 + Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome + + + Preferential parent + + + + + + 508529 + Intermediate epidermolysis bullosa simplex with cardiomyopathy + + + Preferential parent + + + + + + 512103 + Autosomal recessive epidermolytic ichthyosis + + + Preferential parent + + + + + + 529864 + Secondary erythromelalgia + + + Preferential parent + + + + + + 530838 + KRT1-related diffuse nonepidermolytic keratoderma + + + Preferential parent + + + + + + 538863 + Classic pyoderma gangrenosum + + + Preferential parent + + + + + + 538866 + Pustular pyoderma gangrenosum + + + Preferential parent + + + + + + 538869 + Bullous pyoderma gangrenosum + + + Preferential parent + + + + + + 538872 + Vegetative pyoderma gangrenosum + + + Preferential parent + + + + + + 542592 + Necrobiosis lipoidica + + + Preferential parent + + + + + + 542643 + Livedoid vasculopathy + + + Preferential parent + + + + + + 542657 + Isolated hyperchlorhidrosis + + + Preferential parent + + + + + + 555905 + IgA pemphigus + + + Preferential parent + + + + + + 595346 + Epidermolysis bullosa simplex without extracutaneous involvement + + + Preferential parent + + + + + + 595351 + Epidermolysis bullosa simplex with extracutaneous involvement + + + Preferential parent + + + + + + 595356 + Localized dystrophic epidermolysis bullosa + + + Preferential parent + + + + + + 597733 + Oculocutaneous albinism type 8 + + + Preferential parent + + + + + + 615943 + Granuloma faciale + + + Preferential parent + + + + + + 617408 + Classic eosinophilic pustular folliculitis + + + Preferential parent + + + + + + 622914 + Rare genetic nevus + + + Preferential parent + + + + + + 634511 + Mosaic Legius syndrome + + + Preferential parent + + + + + + 636955 + Endemic pemphigus foliaceus + + + Preferential parent + + + + + + 656071 + Atrophic papulosis + + + Preferential parent + + + + + + 656085 + Benign atrophic papulosis + + + Preferential parent + + + + + + 658810 + Atrophoderma of Pasini and Pierini + + + Preferential parent + + + + + + 664787 + Nicolau syndrome + + + Preferential parent + + + + + + 673525 + Intravascular papillary endothelial hyperplasia + + + Preferential parent + + + + + + 673568 + Eccrine angiomatous hamartoma + + + Preferential parent + + + + + + 699057 + Annular erythema of infancy + + + Preferential parent + + + + + + 521268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268 + Sodium-dependent multivitamin transporter deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 521305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305 + Proximal myopathy with focal depletion of mitochondria + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 521308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308 + Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 521390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 + Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 521406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 + Dystonia-parkinsonism-hypermanganesemia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 89838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 + Autosomal recessive generalized epidermolysis bullosa simplex + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 521411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 + Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 520820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520820 + Progressive external ophthalmoplegia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 521123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521123 + Radiation-induced plexopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 521127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521127 + Osteoradionecrosis of the mandible + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 521132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521132 + Radiation-induced disorder + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 521219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521219 + Mirizzi syndrome + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 89043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89043 + Rare dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 521232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521232 + Genetic primary orthostatic disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 521236 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521236 + Primary orthostatic disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 88949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 + MUC1-related autosomal dominant tubulointerstitial kidney disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 88950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 + UMOD-related autosomal dominant tubulointerstitial kidney disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 88991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88991 + Rare congenital non-syndromic heart malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 88993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88993 + Esophageal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 520814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520814 + Rare disorder of the visual organs + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 + Pseudohypoaldosteronism type 2C + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 88939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 + Pseudohypoaldosteronism type 2B + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 519930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519930 + Fungal keratitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 88938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938 + Pseudohypoaldosteronism type 2A + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 88924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 + Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 88918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 + Autosomal dominant Alport syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 88919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 + Autosomal recessive Alport syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 88917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 + X-linked Alport syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 + Fragile X-associated tremor/ataxia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 528105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 + Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 528091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 + Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 528084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084 + Non-specific syndromic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 + Crouzon syndrome-acanthosis nigricans syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 + Pfeiffer syndrome type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 + Pfeiffer syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 + Pfeiffer syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 + Short rib-polydactyly syndrome, Verma-Naumoff type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 + Short rib-polydactyly syndrome, Majewski type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 + Short rib-polydactyly syndrome, Saldino-Noonan type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 + Cloverleaf skull-multiple congenital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 + Short rib-polydactyly syndrome, Beemer-Langer type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 + Spondyloepimetaphyseal dysplasia, PAPSS2 type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 + Spondyloepiphyseal dysplasia, Kimberley type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 + Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 + Polyostotic fibrous dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 + Monostotic fibrous dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 + Thanatophoric dysplasia type 2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108 + Renal dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 527497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 + NKX6-2-related autosomal recessive hypomyelinating leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101 + Renal hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 + Posterior urethral valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109 + Congenital megacalycosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 527450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 + Severe myopia-generalized joint laxity-short stature syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 91547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91547 + Relapsing fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 93100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 + Renal agenesis, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 527468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 + Diaphragmatic hernia-short bowel-asplenia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 92050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 + Congenital tufting enteropathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 93160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 + Hypocalcemic vitamin D-resistant rickets + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93164 + Transient pseudohypoaldosteronism + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type E + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 + HNF1B-related autosomal dominant tubulointerstitial kidney disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 93126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126 + Pauci-immune glomerulonephritis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177 + Congenital bilateral megacalycosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 + Renal dysplasia, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 + Renal dysplasia, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176 + Unilateral congenital megacalycosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 + Isolated tibial hemimelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 + Isolated radial hemimelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320 + Isolated ulnar hemimelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 + Autosomal dominant Kenny-Caffey syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 + Autosomal recessive Kenny-Caffey syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323 + Isolated fibular hemimelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 + Autosomal recessive omodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 + Autosomal dominant omodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 + Polydactyly of a triphalangeal thumb + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 + Postaxial polydactyly type B + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 + Postaxial polydactyly type A + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 + Pelviscapular dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 + Polydactyly of a biphalangeal thumb and/or hallux + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337 + Polydactyly of an index finger + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 527276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 + Encephalopathy due to mitochondrial and peroxisomal fission defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 + Polysyndactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 + X-linked spondyloepimetaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 + Spondyloepimetaphyseal dysplasia congenita, Strudwick type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 + Anauxetic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 + Spondyloepimetaphyseal dysplasia, Missouri type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351 + Spondyloepimetaphyseal dysplasia, Irapa type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 + Spondyloepimetaphyseal dysplasia, Shohat type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 + Spondyloepiphyseal dysplasia tarda + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292 + Adenoma of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 93293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 + Okihiro syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 + Achondrogenesis type 2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 + Achondrogenesis type 1B + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 + Hypochondrogenesis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 + Achondrogenesis type 1A + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302 + Brachyolmia, Maroteaux type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 + Autosomal dominant brachyolmia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 + Multiple epiphyseal dysplasia type 4 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 + Multiple epiphyseal dysplasia type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 + Multiple epiphyseal dysplasia type 5 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 + Spondylometaphyseal dysplasia, Kozlowski type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 + Spondylometaphyseal dysplasia, 'corner fracture' type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 + Spondylometaphyseal dysplasia, Schmidt type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 + Spondylometaphyseal dysplasia, Sedaghatian type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 90692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90692 + Rare endocrine growth disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 529962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 + 17q24.2 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 529864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864 + Secondary erythromelalgia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 529852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852 + Combined hepatocellular carcinoma and cholangiocarcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 90673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673 + Hypothyroidism due to TSH receptor mutations + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 90674 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 + Isolated thyroid-stimulating hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 529831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529831 + Letrozole toxicity + + + + 108999 + Rare disorder due to toxic effects + + + + Preferential parent + + + + + + 529808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808 + Chronic bilirubin encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 + Charcot-Marie-Tooth disease type 1E + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 529799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799 + Acute bilirubin encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 90791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 + Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 + Congenital lipoid adrenal hyperplasia due to STAR deficency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787 + 46,XY difference of sex development due to testicular steroidogenesis defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786 + 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783 + 46,XY difference of sex development due to a testosterone synthesis defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776 + 46,XX difference of sex development induced by fetal androgens excess + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90771 + Difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 529980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980 + Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 530033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033 + Dermoid or epidermoid cyst of the central nervous system + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 529977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977 + Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 90695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 + Non-acquired panhypopituitarism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 529965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965 + Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 529970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970 + Male infertility due to acephalic spermatozoa + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 90400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90400 + Scleromyxedema without monoclonal gammopathy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625 + Rare X-linked non-syndromic sensorineural deafness type DFN + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 90635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635 + Rare autosomal dominant non-syndromic sensorineural deafness type DFNA + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 90636 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636 + Rare autosomal recessive non-syndromic sensorineural deafness type DFNB + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 90396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90396 + Acral persistent papular mucinosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 529468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529468 + Monoclonal mast cell activation syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 90397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90397 + Self-healing papular mucinosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 529574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 + Duane retraction syndrome with congenital deafness + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 90398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90398 + Localized lichen myxedematosus with mixed features of different subtypes + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90399 + Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90393 + Nodular lichen myxedematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90394 + Discrete papular lichen myxedematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90395 + Papular mucinosis of infancy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368 + Hypotrichosis simplex of the scalp + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389 + Telangiectasia macularis eruptiva perstans + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390 + Anonychia-onychodystrophy syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 + Stickler syndrome type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 90652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 + Otopalatodigital syndrome type 2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 90654 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 + Stickler syndrome type 2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 529665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 + Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 + Jervell and Lange-Nielsen syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 90650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 + Otopalatodigital syndrome type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 90646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646 + Deafness-hypogonadism syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 90642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642 + Rare syndromic genetic deafness + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 90641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 + Rare mitochondrial non-syndromic sensorineural deafness + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 91387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387 + Familial thoracic aortic aneurysm and aortic dissection + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396 + Isolated cryptophthalmia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91378 + Hereditary angioedema + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 91385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91385 + Acquired angioedema + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 91412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412 + Marcus-Gunn syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413 + Congenital Horner syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 + Isolated ankyloblepharon filiforme adnatum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 + Congenital ptosis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91357 + Duplication of the esophagus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91354 + Pituitary deficiency due to empty sella turcica syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355 + Sheehan syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91364 + Non-specific interstitial pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 91358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358 + Congenital esophageal diverticulum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359 + Chronic pneumonitis of infancy + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 91496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 + Snowflake vitreoretinal degeneration + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 + Persistent hyperplastic primary vitreous + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 + Macular coloboma-cleft palate-hallux valgus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492 + Early onset non-syndromic cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91546 + Lyme disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 91500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91500 + Tubulointerstitial nephritis and uveitis syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 91498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498 + Familial congenital palsy of trochlear nerve + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481 + Ring dermoid of cornea + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 91416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416 + Isolated congenital alacrima + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414 + Pilomatrixoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 91491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491 + Congenital ectropion uveae + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490 + Isolated congenital sclerocornea + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489 + Isolated congenital megalocornea + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 + Rieger anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 91127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91127 + Adenovirus infection in immunocompromised patients + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 91130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 + Cardiomyopathy-hypotonia-lactic acidosis syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 91131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 + DK1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 91132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 + Ichthyosis-hypotrichosis syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 90793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 + Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 + Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 + 46,XY difference of sex development due to isolated 17,20-lyase deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 + Partial androgen insensitivity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 90970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970 + Primary lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91024 + Autosomal recessive axonal hereditary motor and sensory neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 91088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088 + Other metabolic disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 91347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347 + TSH-secreting pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349 + Non-functioning pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348 + Functioning gonadotropic adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351 + Pituitary dermoid and epidermoid cysts + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350 + Pituitary deficiency due to Rathke cleft cysts + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 91352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 + Germinoma of the central nervous system + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 91136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136 + Acquired monoclonal Ig light chain-associated Fanconi syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 91135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135 + Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 91138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138 + Cryoglobulinemic vasculitis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 91137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91137 + Immunotactoid or fibrillary glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 91140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91140 + Unspecified juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 91139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139 + Simple cryoglobulinemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 528623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528623 + Hereditary angioedema with C1Inh deficiency + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 91144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144 + 46,XX difference of sex development induced by maternal-derived androgen + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 528647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528647 + Hereditary angioedema with normal C1Inh + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 528663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528663 + Acquired angioedema with C1Inh deficiency + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 79384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79384 + Rare urticaria + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79385 + Unclassified genetic skin disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79382 + Subcutaneous tissue disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79388 + Mucopolysaccharidosis with skin involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79389 + Premature aging + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79386 + Rare skin tumor or hamartoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79387 + Metabolic disease with skin involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79390 + Rare photodermatosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79391 + Immune deficiency with skin involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396 + Autosomal dominant generalized epidermolysis bullosa simplex, severe form + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397 + Epidermolysis bullosa simplex with mottled pigmentation + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 + Congenital ichthyosiform erythroderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 + Keratoderma hereditarium mutilans with ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79369 + Isolated nail anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79368 + Nail anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79367 + Syndromic hair shaft abnormality + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79366 + Isolated hair shaft abnormality + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373 + Ectodermal dysplasia syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79372 + Sebaceous gland anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79370 + Syndromic nail anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79377 + Dermis disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79376 + Hypopigmentation of the skin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79375 + Hyperpigmentation of the skin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79374 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79374 + Pigmentation anomaly of the skin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79381 + Other dermis disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79380 + Mixed dermis disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79379 + Skin vascular disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79378 + Dermis elastic tissue disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414 + Woolly hair nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399 + Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 + PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400 + Localized epidermolysis bullosa simplex + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 + Junctional epidermolysis bullosa with pyloric atresia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 + Intermediate generalized junctional epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405 + Junctional epidermolysis bullosa inversa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 + Severe generalized junctional epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 + Late-onset junctional epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 + Recessive dystrophic epidermolysis bullosa inversa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 + Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 + Self-improving dystrophic epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 + Localized dystrophic epidermolysis bullosa, pretibial form + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 + Milroy disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447 + X-linked lethal multiple pterygium syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456 + Diffuse cutaneous mastocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457 + Maculopapular cutaneous mastocytosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455 + Cutaneous mastocytoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 + Oculocutaneous albinism type 4 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 + Oculocutaneous albinism type 1B + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 + Oculocutaneous albinism type 3 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 + Oculocutaneous albinism type 2 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 + Oculocutaneous albinism type 1A + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 + Hermansky-Pudlak syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 79445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 + Pseudopseudohypoparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 + Pseudohypoparathyroidism type 1C + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 + Pseudohypoparathyroidism type 1A + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 + Phakomatosis cesioflammea + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 + Phakomatosis cesiomarmorata + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485 + Phakomatosis spilorosea + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 + Griscelli syndrome type 3 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79479 + Pemphigus vegetans + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79480 + Pemphigus erythematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79481 + Pemphigus foliaceus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490 + Microcystic lymphatic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492 + Pili gemini + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493 + Brooke-Spiegler syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489 + Macrocystic lymphatic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79467 + Verrucous nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79466 + Inflammatory linear verrucous epidermal nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79468 + Acanthokeratolytic verrucous nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474 + Atypical Werner syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 + Griscelli syndrome type 2 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 + Griscelli syndrome type 1 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 + Variegate porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 + Sanfilippo syndrome type A + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 + GM1 gangliosidosis type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 + GM1 gangliosidosis type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 + GM1 gangliosidosis type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 + Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 + Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 + Pyruvate dehydrogenase phosphatase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 + Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 + Biotinidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 + Galactose epimerase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 + Classic galactosemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 + Pyruvate dehydrogenase E2 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 + Holocarboxylase synthetase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 + Pyruvate dehydrogenase E1-alpha deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 + Congenital glucokinase-related hyperinsulinism + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298 + Diazoxide-resistant focal hyperinsulinism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 + Congenital bile acid synthesis defect type 1 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 + Familial LCAT deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 + Fish-eye disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 79278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 + Autosomal erythropoietic protoporphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 + Alpha-N-acetylgalactosaminidase deficiency type 1 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 + Alpha-N-acetylgalactosaminidase deficiency type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 + Alpha-N-acetylgalactosaminidase deficiency type 3 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 + Methylmalonic acidemia with homocystinuria, type cblC + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 + Methylmalonic acidemia with homocystinuria, type cblD + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 + Methylmalonic acidemia with homocystinuria type cblF + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 + Sanfilippo syndrome type B + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 + Sanfilippo syndrome type C + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 + Sanfilippo syndrome type D + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 + Hereditary coproporphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 + Acute intermittent porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 + Congenital erythropoietic porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 + COG7-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 + B4GALT1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 + MOGS-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 + MGAT2-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 + ALG9-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 + ALG1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 + ALG2-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 + ALG8-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 + ALG12-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 + MPDU1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 + DPM1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 + ALG3-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 + ALG6-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 + MPI-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 + PMM2-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 + L-2-hydroxyglutaric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 + D-2-hydroxyglutaric aciduria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 + Vitamin B12-unresponsive methylmalonic acidemia type mut- + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 + Vitamin B12-responsive methylmalonic acidemia type cblA + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 + Vitamin B12-responsive methylmalonic acidemia type cblB + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 + Progressive familial intrahepatic cholestasis type 1 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 + Progressive familial intrahepatic cholestasis type 2 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 + Progressive familial intrahepatic cholestasis type 3 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 + Congenital bile acid synthesis defect type 3 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 + Congenital bile acid synthesis defect type 2 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 79363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79363 + Hair anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79362 + Epidermal appendage anomaly + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79365 + Rare disorder with hypertrichosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79364 + Alopecia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79359 + Other epidermal disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79358 + Porokeratosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361 + Inherited epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79360 + Other genetic epidermal disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79355 + Erythrokeratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79354 + Ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79357 + Hereditary palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79356 + Acrokeratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 + 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 + 3-phosphoserine phosphatase deficiency, infantile/juvenile form + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 79353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79353 + Epidermal disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346 + Chondrodysplasia punctata, tibial-metacarpal type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 79347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347 + Chondrodysplasia punctata, Toriello type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 79345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 + Brachytelephalangic chondrodysplasia punctata + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 + Singleton-Merten dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188 + Metaphyseal dysplasia, Braun-Tinschert type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 + Idiopathic juvenile osteoporosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192 + Calvarial doughnut lesions-bone fragility syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195 + Familial expansile osteolysis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 + Spondylo-ocular syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197 + Genochondromatosis type 1 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 + Craniosynostosis-anal anomalies-porokeratosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198 + Dysspondyloenchondromatosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 + Genitopatellar syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203 + Acropectoral syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 + Keutel syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273 + X-linked intellectual disability, Abidi type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 + Fetal Gaucher disease + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 85274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274 + Syndromic X-linked intellectual disability 7 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 + Microphthalmia-ankyloblepharon-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276 + X-linked intellectual disability, Armfield type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277 + X-linked intellectual disability, Cantagrel type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 + Christianson syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 + KDM5C-related syndromic X-linked intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280 + X-linked intellectual disability-cubitus valgus-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 + MEHMO syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 + BRESEK syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285 + X-linked intellectual disability, Schimke type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 + X-linked intellectual disability, Shashi type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287 + X-linked intellectual disability, Siderius type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 + X-linked intellectual disability, Stocco Dos Santos type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293 + X-linked intellectual disability, Cabezas type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 + X-linked spinocerebellar ataxia type 4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290 + X-linked intellectual disability, Wilson type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317 + X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 + X-linked spinocerebellar ataxia type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 + HSD10 disease, atypical type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 + X-linked epilepsy-learning disabilities-behavior disorders syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 + Deafness-intellectual disability syndrome, Martin-Probst type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320 + X-linked intellectual disability-macrocephaly-macroorchidism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319 + X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 + X-linked intellectual disability, Stevenson type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324 + X-linked intellectual disability, Shrimpton type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323 + X-linked intellectual disability, Seemanova type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322 + X-linked intellectual disability, Pai type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 + X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326 + X-linked intellectual disability, Stoll type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327 + X-linked intellectual disability-acromegaly-hyperactivity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 + X-linked intellectual disability-retinitis pigmentosa syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336 + X-linked neurodegenerative syndrome, Hamel type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334 + X-linked neurodegenerative syndrome, Bertini type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 + Fried syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410 + Oligoarticular juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414 + Systemic-onset juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338 + X-linked intellectual disability-ataxia-apraxia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408 + Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 + AL amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442 + Short stature-pituitary and cerebellar defects-small sella turcica syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 85446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85446 + Wild type ABeta2M amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445 + AA amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436 + Psoriasis-related juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435 + Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438 + Enthesitis-related juvenile idiopathic arthritis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458 + Hereditary cerebral amyloid angiopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 85453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 + X-linked reticulate pigmentary disorder + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 86788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788 + X-linked severe congenital neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 86309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 + DPAGT1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 85448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448 + AGel amyloidosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 85447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 + ATTRV30M amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 85451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 + ATTRV122I amyloidosis + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 85450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450 + Hereditary amyloidosis with primary renal involvement + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 86812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 + POMT1-related limb-girdle muscular dystrophy R11 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813 + Helicoid peripapillary chorioretinal degeneration + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 86814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 + Familial adult myoclonic epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815 + Aplasia of lacrimal and salivary glands + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 86789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789 + Isolated patella aplasia/hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86795 + Localized lichen myxedematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 86797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86797 + Atypical lichen myxedematosus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 86820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820 + Familial avascular necrosis of femoral head + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 86821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 + Lissencephaly type 3-familial fetal akinesia sequence syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 + Lissencephaly type 3-metacarpal bone dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 + Lissencephaly with cerebellar hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816 + Congenital analbuminemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 512017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017 + Chronic lymphoproliferative disorder of natural killer cells + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86817 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817 + Hemolytic anemia due to adenylate kinase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 86818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 + Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 86819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819 + Atrichia with papular lesions + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 512034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034 + Large granular lymphocyte leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843 + Acute panmyelosis with myelofibrosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841 + Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839 + Myelodysplastic neoplasm with increased blasts + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836 + Refractory cytopenia with multilineage dysplasia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 512103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103 + Autosomal recessive epidermolytic ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 86834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834 + Juvenile myelomonocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830 + Chronic myeloproliferative disease, unclassifiable + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829 + Chronic neutrophilic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855 + Plasmacytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 512260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 + Congenital cerebellar ataxia due to RNU12 mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 86854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854 + Splenic marginal zone lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852 + B-cell prolymphocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851 + Acute leukemia of ambiguous lineage + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850 + Myeloid sarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849 + Acute basophilic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846 + Therapy related acute myeloid leukemia and myelodysplastic syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845 + Acute myeloid leukaemia with myelodysplasia-related features + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872 + T-cell large granular lymphocyte leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873 + Aggressive NK-cell leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870 + Blastic plasmacytoid dendritic cell neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871 + T-cell prolymphocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867 + Nodal marginal zone B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869 + Lymphomatoid granulomatosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861 + Non-amyloid monoclonal immunoglobulin deposition disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864 + Heavy chain disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886 + Angioimmunoblastic T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893 + Nodular lymphocyte predominant Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 + Subcutaneous panniculitis-like T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885 + Primary cutaneous peripheral T-cell lymphoma not otherwise specified + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880 + Enteropathy-associated T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882 + Hepatosplenic T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875 + Adult T-cell leukemia/lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 86879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879 + Extranodal nasal NK/T cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 79502 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502 + Punctate palmoplantar keratoderma type 2 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503 + Ichthyosis hystrix of Curth-Macklin + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507 + Hypotonia-failure to thrive-microcephaly syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 + X-linked congenital generalized hypertrichosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 + Autosomal dominant deafness-onychodystrophy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 + DOORS syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 + Punctate palmoplantar keratoderma type 1 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 79669 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79669 + Autoimmune bullous skin disease + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 83001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83001 + Urogenital tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 79643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 + Autosomal recessive hyperinsulinism due to SUR1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 + Mild hyperphenylalaninemia + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 79644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 + Autosomal recessive hyperinsulinism due to Kir6.2 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 83317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83317 + Scrub typhus + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330 + Proximal spinal muscular atrophy type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83315 + Murine typhus + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83316 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83316 + Pseudotyphus of California + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419 + Proximal spinal muscular atrophy type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83420 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420 + Proximal spinal muscular atrophy type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418 + Proximal spinal muscular atrophy type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83313 + Boutonneuse fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83314 + Epidemic typhus + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83311 + Rocky Mountain spotted fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83312 + Rickettsialpox + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469 + Desmoplastic small round cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 83468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468 + Solitary bone cyst + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 83467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467 + Morvan syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465 + Narcolepsy type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476 + West-Nile encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 + Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 + CAMOS syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471 + T-cell immunodeficiency with thymic aplasia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 83452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83452 + Complex regional pain syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451 + Florid cemento-osseous dysplasia + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 83450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450 + Regional odontodysplasia + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 83463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 + Microtia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 + Congenital primary aphakia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 + Glomuvenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453 + Vulvovaginal gingival syndrome + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 514352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514352 + Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619 + Macrostomia-preauricular tags-external ophthalmoplegia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 + Enteric anendocrinosis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 83628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 + LUMBAR syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601 + Steroid-responsive encephalopathy associated with autoimmune thyroiditis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616 + Rubella panencephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 + Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594 + Eastern equine encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595 + Colorado tick fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597 + Acute disseminated encephalomyelitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600 + Encephalitis lethargica + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482 + Mycoplasma encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483 + La Crosse encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484 + St. Louis encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 83593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83593 + Western equine encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 84085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84085 + Hinman syndrome + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 84081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081 + Senior-Boichis syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 84090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090 + Fibronectin glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 84087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84087 + Collagen type III glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 84064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 + Trichohepatoenteric syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 84065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065 + Idiopathic malabsorption due to bile acid synthesis defects + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 513436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436 + Autosomal recessive spastic paraplegia type 78 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 83639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 + Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 83629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 + Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 513456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456 + Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 83642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 + Microcytic anemia with liver iron overload + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 85163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 + Hypomyelination-congenital cataract syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 + Camptodactyly-tall stature-scoliosis-hearing loss syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 + Neurogenic scapuloperoneal syndrome, Kaeser type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 85162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162 + Facial onset sensory and motor neuronopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 85138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85138 + Addison disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 85128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 + Bothnia retinal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 85136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136 + Cystic leukoencephalopathy without megalencephaly + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 85110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110 + Familial encephalopathy with neuroserpin inclusion bodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 85112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 + Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85102 + Perineurioma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 84132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 + Desmin-related myopathy with Mallory body-like inclusions + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 84142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142 + Isaacs syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 84093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093 + Hereditary thermosensitive neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 85186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 + Endosteal sclerosis-cerebellar hypoplasia syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184 + Craniometadiaphyseal dysplasia, wormian bone type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 + Diaphyseal medullary stenosis-bone malignancy syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 + Infantile osteopetrosis with neuroaxonal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175 + Astley-Kendall dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174 + Pseudodiastrophic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 + IMAGe syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 + Microcephalic osteodysplastic dysplasia, Saul-Wilson type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170 + Mesomelic dysplasia, Savarirayan type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 + Familial digital arthropathy-brachydactyly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 85168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168 + Craniofacial conodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 + Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 + Platyspondylic dysplasia, Torrance type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 85165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 + Severe achondroplasia-developmental delay-acanthosis nigricans syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 603448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 + Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 603515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515 + Isolated female hypospadias + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 603494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 + Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 603689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 + KLHL7-related Bohring-Opitz-like syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 603684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 + KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98127 + Autosomal anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 603699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603699 + Recessive KLHL7-related disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 603694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 + KLHL7-related Crisponi/cold-induced sweating-like syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98130 + Autosomal trisomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98131 + Total autosomal trisomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98132 + Partial autosomal duplication/triplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98152 + Autosomal uniparental disomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98153 + Maternal uniparental disomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98156 + Sex-chromosome number anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98157 + Sex-chromosome structural anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98154 + Paternal uniparental disomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98155 + Sex-chromosome anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98158 + Chromosome Y structural anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98159 + Chromosome X structural anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98141 + Total autosomal monosomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98142 + Partial autosomal deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98058 + Rare urinary tract tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98059 + Rare digestive tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98060 + Rare respiratory tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98061 + Rare otorhinolaryngologic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98054 + Rare genetic cardiac disease + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 98056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98056 + Rare genetic renal disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 98057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98057 + Rare tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 610573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 + CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98062 + Rare nervous system tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98063 + Rare gynecological tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 610569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 + KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98043 + Diaphragmatic or abdominal wall malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98045 + Respiratory or mediastinal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 604680 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=604680 + Symptomatic form of X-linked centronuclear myopathy in female carriers + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98044 + Central nervous system malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98039 + Digestive tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98038 + Cranial malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98041 + Visceral malformation of the liver, biliary tract, pancreas or spleen + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98050 + Rare allergic disease + + + + + 98053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98053 + Rare genetic disease + + + + + 98301 + Laminopathy + + + Preferential parent + + + + + + 168612 + Congenital deficiency in alpha-fetoprotein + + + Preferential parent + + + + + + 168615 + Hereditary persistence of alpha-fetoprotein + + + Preferential parent + + + + + + 250805 + Serpinopathy + + + Preferential parent + + + + + + 250808 + Serpinopathy with toxic serpin polymerization + + + Preferential parent + + + + + + 250811 + Serpinopathy with loss of serpin function + + + Preferential parent + + + + + + 254704 + Genetic hyperferritinemia without iron overload + + + Preferential parent + + + + + + 363250 + Ciliopathy + + + Preferential parent + + + + + + 447874 + Biological anomaly without phenotypic characterization + + + Preferential parent + + + + + + 641343 + Imprinting disorders + + + Preferential parent + + + + + + 98052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98052 + Rare allergic respiratory disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 98047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98047 + Rare infertility + + + + + 1646 + Chromosome Y microdeletion syndrome + + + Preferential parent + + + + + + 98048 + Rare male infertility + + + Preferential parent + + + + + + 98049 + Rare female infertility + + + Preferential parent + + + + + + 98343 + Male infertility due to obstructive azoospermia + + + Preferential parent + + + + + + 137893 + Male infertility due to large-headed multiflagellar polyploid spermatozoa + + + Preferential parent + + + + + + 171709 + Male infertility due to globozoospermia + + + Preferential parent + + + + + + 275742 + Genetic infertility + + + Preferential parent + + + + + + 276234 + Non-syndromic male infertility due to sperm motility disorder + + + Preferential parent + + + + + + 399805 + Male infertility with azoospermia or oligozoospermia due to single gene mutation + + + Preferential parent + + + + + + 399808 + Male infertility with teratozoospermia due to single gene mutation + + + Preferential parent + + + + + + 399824 + Rare disorder with obstructive azoospermia + + + Preferential parent + + + + + + 399980 + Rare genetic male infertility + + + Preferential parent + + + + + + 399998 + Male infertility due to obstructive azoospermia of genetic origin + + + Preferential parent + + + + + + 400003 + Rare genetic disorder with obstructive azoospermia + + + Preferential parent + + + + + + 400008 + Rare genetic female infertility + + + Preferential parent + + + + + + 404466 + Female infertility due to zona pellucida defect + + + Preferential parent + + + + + + 488191 + Female infertility due to oocyte meiotic arrest + + + Preferential parent + + + + + + 529970 + Male infertility due to acephalic spermatozoa + + + Preferential parent + + + + + + 98049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98049 + Rare female infertility + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 98048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98048 + Rare male infertility + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 98086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086 + 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087 + Syndrome with 46,XY difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 + Autosomal recessive degenerative and progressive cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 + Autosomal recessive syndromic cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 + Autosomal recessive metabolic cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 + Autosomal recessive cerebellar ataxia due to a DNA repair defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 + Autosomal recessive congenital cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 611256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 + Pontocerebellar hypoplasia type 12 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 611314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611314 + Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 611237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 + Parkinsonism with polyneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 611247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 + Pontocerebellar hypoplasia type 11 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98074 + Gonadal dysgenesis of gynecological interest + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 611216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 + Aplastic anemia-intellectual disability-dwarfism syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 611223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 + EN1-related dorsoventral syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 611201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 + Oculogastrointestinal-neurodevelopmental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 611207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 + Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 613267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 + Pontocerebellar hypoplasia type 13 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085 + 46,XY difference of sex development + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 613274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 + Pontocerebellar hypoplasia type 14 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 611327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611327 + Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98078 + 46,XX difference of sex development induced by androgens excess + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98255 + Chronic encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98260 + Adolescent-onset epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98259 + Childhood-onset epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261 + Progressive myoclonic epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249 + Ehlers-Danlos syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 600832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600832 + Legionella infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 98252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98252 + Infectious encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 600668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668 + CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 + NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 600691 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600691 + Combined deficiency of factor VII and factor X + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 600731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731 + Clark-Baraitser syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98290 + Immunodeficiency-associated lymphoproliferative disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 98289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98289 + Dendritic cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98288 + Macrophage or histiocytic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287 + Histiocytic and dendritic cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293 + Hodgkin lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98292 + Mastocytosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98291 + Lymphoproliferative disease associated with primary immune disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98282 + Plasma cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274 + Myeloproliferative neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277 + Acute myeloid leukemia with recurrent genetic anomaly + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275 + Myelodysplastic/myeloproliferative disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98267 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267 + Genetic non-syndromic obesity + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 98196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98196 + Malformation syndrome with hamartosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 601028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601028 + Non-syndromic rectovaginal fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 601033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601033 + Non-syndromic H-type fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 601008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601008 + Non-syndromic anal stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 601013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601013 + Non-syndromic pouch colon + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 601018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601018 + Non-syndromic rectal atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 601023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601023 + Non-syndromic rectal stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600984 + Non-syndromic rectovesical fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600993 + Non-syndromic vestibular fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600998 + Non-syndromic cloacal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 601002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601002 + Non-syndromic anorectal malformation without fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600961 + Non-syndromic rectourethral fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600952 + Non-syndromic perineal fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600975 + Non-syndromic rectourethral fistula, prostatic type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 600966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600966 + Non-syndromic rectourethral fistula, bulbar type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98203 + Combined dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97245 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245 + Congenital myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 + Rigid spine syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242 + Congenital muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261 + GRFoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253 + Neuroendocrine tumor of pancreas + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252 + Mega-cisterna magna + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 + Pontocerebellar hypoplasia type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279 + Insulinoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278 + PPoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97275 + Encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285 + Thyroid lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 97283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 + Somatostatinoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282 + VIPoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280 + Glucagonoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97289 + Thymic neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 97290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290 + Familial papillary thyroid carcinoma with renal papillary neoplasia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 97286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 + Carney-Stratakis syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 97287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287 + Bronchial neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 97293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97293 + Rare benign ovarian tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 97292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97292 + Cardiogenic shock + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 97332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332 + Kienbock disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 97335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335 + Osgood-Schlatter disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 97297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 + Bohring-Opitz syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97330 + Thoracic outlet syndrome + + + + 97962 + Rare surgical thoracic disease + + + + Preferential parent + + + + + + 97338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97338 + Melanoma of soft tissue + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 97339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339 + Dural sinus malformation with arteriovenous shunt + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336 + Panner disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 97337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337 + Sinding-Larsen-Johansson disease + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 97341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341 + Persistent placoid maculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 97340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340 + Hunter-McAlpine syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 + ADan amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 + ABri amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97349 + Postencephalitic parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97352 + Pellagra + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 97353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97353 + Dementia pugilistica + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 + Robinow syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97355 + Caribbean parkinsonism + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361 + Renal hypoplasia, unilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 + Renal hypoplasia, bilateral + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 + Unilateral multicystic dysplastic kidney + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 + Bilateral multicystic dysplastic kidney + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366 + Multiloculated renal cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367 + Renal tubular dysgenesis due to twin-twin transfusion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368 + Drug-related renal tubular dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 + Renal tubular dysgenesis of genetic origin + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 + Right isomerism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560 + Primary membranous glomerulonephritis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 96183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96183 + Maternal uniparental disomy of chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 + Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181 + Maternal uniparental disomy of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96180 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180 + Maternal uniparental disomy of chromosome 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179 + Maternal uniparental disomy of chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178 + Ring chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177 + Ring chromosome 15 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176 + Ring chromosome 13 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191 + Paternal uniparental disomy of chromosome 6 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190 + Paternal uniparental disomy of chromosome 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188 + Maternal uniparental disomy of chromosome 22 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187 + Maternal uniparental disomy of chromosome 21 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186 + Maternal uniparental disomy of chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185 + Maternal uniparental disomy of chromosome 16 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 + Temple syndrome due to maternal uniparental disomy of chromosome 14 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96194 + Paternal uniparental disomy of chromosome 20 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96195 + Paternal uniparental disomy of chromosome 21 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192 + Paternal uniparental disomy of chromosome 7 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 + Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96256 + Somatotropic adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 96210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96210 + Rare genetic deafness + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 96253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253 + Cushing disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 96201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201 + X small rings syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96321 + Polyploidy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 + Isolated partial vaginal agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 + 49,XXXXY syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 + 48,XXXY syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 + Leydig cell hypoplasia due to partial LH resistance + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 + Leydig cell hypoplasia due to complete LH resistance + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96344 + Rare gynecologic or obstetric disease + + + + + 2456 + Familial supernumerary nipples + + + Preferential parent + + + + + + 64722 + Granulomatous mastitis + + + Preferential parent + + + + + + 64739 + Ovarian hyperstimulation syndrome + + + Preferential parent + + + + + + 83453 + Vulvovaginal gingival syndrome + + + Preferential parent + + + + + + 95431 + Twin to twin transfusion syndrome + + + Preferential parent + + + + + + 137686 + Asherman syndrome + + + Preferential parent + + + + + + 137820 + Extrapelvic endometriosis + + + Preferential parent + + + + + + 163637 + Rare disorder related with pregnancy, childbirth and puerperium + + + Preferential parent + + + + + + 180176 + Familial juvenile hypertrophy of the breast + + + Preferential parent + + + + + + 180199 + Rare non-malformative gynecologic or obstetric disease + + + Preferential parent + + + + + + 180202 + Rare non-malformative breast disease + + + Preferential parent + + + + + + 180205 + Rare non-malformative uterovaginal or vulvovaginal disease + + + Preferential parent + + + + + + 180208 + Anomaly of puberty or/and menstrual cycle + + + Preferential parent + + + + + + 180303 + Rare non-malformative uterine adnexal disease + + + Preferential parent + + + + + + 183731 + Rare genetic gynecological and obstetrical diseases + + + Preferential parent + + + + + + 202940 + Anomaly of puberty or/and menstrual cycle of genetic origin + + + Preferential parent + + + + + + 275555 + Preeclampsia + + + Preferential parent + + + + + + 289385 + Malignancy diagnosed during pregnancy + + + Preferential parent + + + + + + 439167 + Placental insufficiency + + + Preferential parent + + + + + + 498251 + Menstrual cycle-dependent periodic fever + + + Preferential parent + + + + + + 589746 + Inherited gynecological cancer-predisposing syndrome + + + Preferential parent + + + + + + 615970 + Chronic intervillositis of unknown etiology + + + Preferential parent + + + + + + 617294 + Twin anemia-polycythemia sequence + + + Preferential parent + + + + + + 617297 + Twin-reversed arterial perfusion sequence + + + Preferential parent + + + + + + 617301 + Selective intrauterine growth restriction + + + Preferential parent + + + + + + 617304 + Amniotic fluid embolism + + + Preferential parent + + + + + + 617307 + Rare disorder related to monochorionic twin pregnancy + + + Preferential parent + + + + + + 617310 + Rare disorder due to unbalanced inter-twin blood transfusion + + + Preferential parent + + + + + + 617313 + Rare disorder due to inadequate sharing of the placenta + + + Preferential parent + + + + + + 647823 + Idiopathic pregnancy-associated osteoporosis + + + Preferential parent + + + + + + 653698 + Lymphocytic mastitis + + + Preferential parent + + + + + + 662721 + Placenta accreta spectrum disorder + + + Preferential parent + + + + + + 662786 + Vasa previa + + + Preferential parent + + + + + + 96346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346 + Anorectal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96325 + Isochromosome Y syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 + Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333 + Rare otorhinolaryngological malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97120 + Distal arthrogryposis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97214 + Eisenmenger syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 + Glycogen storage disease due to phosphoglycerate mutase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 97238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 + Rippling muscle disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239 + Reducing body myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240 + Zebra body myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 + Riboflavin transporter deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97230 + Solar urticaria + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 97232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232 + Fingerprint body myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 97978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97978 + Rare endocrine disease + + + + + 631 + Non-acquired isolated growth hormone deficiency + + + Preferential parent + + + + + + 508 + Donohue syndrome + + + Preferential parent + + + + + + 14 + Abetalipoproteinemia + + + Preferential parent + + + + + + 963 + Acromegaly + + + Preferential parent + + + + + + 1672 + Diencephalic syndrome + + + Preferential parent + + + + + + 2233 + Hypogonadism-mitral valve prolapse-intellectual disability syndrome + + + Preferential parent + + + + + + 418 + Congenital adrenal hyperplasia + + + Preferential parent + + + + + + 442 + Congenital hypothyroidism + + + Preferential parent + + + + + + 3463 + Wolfram syndrome + + + Preferential parent + + + + + + 403 + Familial hyperaldosteronism type I + + + Preferential parent + + + + + + 754 + Androgen insensitivity syndrome + + + Preferential parent + + + + + + 650 + LCAT deficiency + + + Preferential parent + + + + + + 427 + Familial hypoaldosteronism + + + Preferential parent + + + + + + 71 + Chylomicron retention disease + + + Preferential parent + + + + + + 528 + Congenital generalized lipodystrophy + + + Preferential parent + + + + + + 657 + Congenital isolated hyperinsulinism + + + Preferential parent + + + + + + 3000 + Familial peripheral male-limited precocious puberty + + + Preferential parent + + + + + + 2297 + Insulin-resistance syndrome type A + + + Preferential parent + + + + + + 869 + Triple A syndrome + + + Preferential parent + + + + + + 977 + Adrenomyodystrophy + + + Preferential parent + + + + + + 1226 + Bamforth-Lazarus syndrome + + + Preferential parent + + + + + + 1227 + Bangstad syndrome + + + Preferential parent + + + + + + 1979 + Lipodystrophy due to peptidic growth factors deficiency + + + Preferential parent + + + + + + 2230 + Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome + + + Preferential parent + + + + + + 2232 + Primary hypergonadotropic hypogonadism-partial alopecia syndrome + + + Preferential parent + + + + + + 2238 + Familial isolated hypoparathyroidism + + + Preferential parent + + + + + + 2239 + Familial isolated hypoparathyroidism due to agenesis of parathyroid gland + + + Preferential parent + + + + + + 2255 + Pancreatic hypoplasia-diabetes-congenital heart disease syndrome + + + Preferential parent + + + + + + 2348 + Familial partial lipodystrophy, Dunnigan type + + + Preferential parent + + + + + + 1359 + Carney complex + + + Preferential parent + + + + + + 2976 + Pseudoleprechaunism syndrome, Patterson type + + + Preferential parent + + + + + + 769 + Rabson-Mendenhall syndrome + + + Preferential parent + + + + + + 3143 + Autoimmune polyendocrinopathy type 2 + + + Preferential parent + + + + + + 3225 + Hearing loss-familial salivary gland insensitivity to aldosterone syndrome + + + Preferential parent + + + + + + 425 + Apolipoprotein A-I deficiency + + + Preferential parent + + + + + + 3453 + Autoimmune polyendocrinopathy type 1 + + + Preferential parent + + + + + + 3464 + Woodhouse-Sakati syndrome + + + Preferential parent + + + + + + 2349 + Muscular pseudohypertrophy-hypothyroidism syndrome + + + Preferential parent + + + + + + 478 + Kallmann syndrome + + + Preferential parent + + + + + + 633 + Laron syndrome + + + Preferential parent + + + + + + 412 + Dysbetalipoproteinemia + + + Preferential parent + + + + + + 424 + Familial hyperthyroidism due to mutations in TSH receptor + + + Preferential parent + + + + + + 2965 + Prolactinoma + + + Preferential parent + + + + + + 361 + Familial glucocorticoid deficiency + + + Preferential parent + + + + + + 913 + Zollinger-Ellison syndrome + + + Preferential parent + + + + + + 405 + Familial hypocalciuric hypercalcemia + + + Preferential parent + + + + + + 428 + Autosomal dominant hypocalcemia + + + Preferential parent + + + + + + 2298 + Insulin-resistance syndrome type B + + + Preferential parent + + + + + + 2207 + Familial primary hyperparathyroidism + + + Preferential parent + + + + + + 629 + Short stature due to growth hormone qualitative anomaly + + + Preferential parent + + + + + + 632 + Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia + + + Preferential parent + + + + + + 552 + MODY + + + Preferential parent + + + + + + 224 + Neonatal diabetes mellitus + + + Preferential parent + + + + + + 432 + Normosmic congenital hypogonadotropic hypogonadism + + + Preferential parent + + + + + + 91 + Aromatase deficiency + + + Preferential parent + + + + + + 785 + Estrogen resistance syndrome + + + Preferential parent + + + + + + 786 + Generalized glucocorticoid resistance syndrome + + + Preferential parent + + + + + + 467 + Non-acquired combined pituitary hormone deficiency + + + Preferential parent + + + + + + 404 + Familial hyperaldosteronism type II + + + Preferential parent + + + + + + 320 + Apparent mineralocorticoid excess + + + Preferential parent + + + + + + 29072 + Hereditary pheochromocytoma-paraganglioma + + + Preferential parent + + + + + + 30925 + Hereditary arginine vasopressin deficiency + + + Preferential parent + + + + + + 31150 + Tangier disease + + + Preferential parent + + + + + + 31153 + Hypoalphalipoproteinemia + + + Preferential parent + + + + + + 31154 + Hypobetalipoproteinemia + + + Preferential parent + + + + + + 36913 + Autoimmune hypoparathyroidism + + + Preferential parent + + + + + + 68415 + Rare parathyroid disease and phosphocalcic metabolism anomaly + + + Preferential parent + + + + + + 52901 + Isolated follicle stimulating hormone deficiency + + + Preferential parent + + + + + + 54595 + Craniopharyngioma + + + Preferential parent + + + + + + 64744 + IgG4-related thyroid disease + + + Preferential parent + + + + + + 66518 + Short fifth metacarpals-insulin resistance syndrome + + + Preferential parent + + + + + + 66628 + Obesity due to congenital leptin deficiency + + + Preferential parent + + + + + + 67045 + X-linked intellectual disability with isolated growth hormone deficiency + + + Preferential parent + + + + + + 71526 + Obesity due to pro-opiomelanocortin deficiency + + + Preferential parent + + + + + + 71528 + Obesity due to prohormone convertase I deficiency + + + Preferential parent + + + + + + 71529 + Obesity due to melanocortin 4 receptor deficiency + + + Preferential parent + + + + + + 73272 + Growth delay due to insulin-like growth factor type 1 deficiency + + + Preferential parent + + + + + + 73273 + Growth delay due to insulin-like growth factor I resistance + + + Preferential parent + + + + + + 77828 + Genetic obesity + + + Preferential parent + + + + + + 79083 + PPARG-related familial partial lipodystrophy + + + Preferential parent + + + + + + 79084 + Familial partial lipodystrophy, Köbberling type + + + Preferential parent + + + + + + 79085 + AKT2-related familial partial lipodystrophy + + + Preferential parent + + + + + + 79086 + Acquired generalized lipodystrophy + + + Preferential parent + + + + + + 79087 + Acquired partial lipodystrophy + + + Preferential parent + + + + + + 79088 + Localized lipodystrophy + + + Preferential parent + + + + + + 79118 + Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome + + + Preferential parent + + + + + + 79134 + DEND syndrome + + + Preferential parent + + + + + + 79292 + Fish-eye disease + + + Preferential parent + + + + + + 79293 + Familial LCAT deficiency + + + Preferential parent + + + + + + 79298 + Diazoxide-resistant focal hyperinsulinism + + + Preferential parent + + + + + + 79443 + Pseudohypoparathyroidism type 1A + + + Preferential parent + + + + + + 79444 + Pseudohypoparathyroidism type 1C + + + Preferential parent + + + + + + 79445 + Pseudopseudohypoparathyroidism + + + Preferential parent + + + + + + 85138 + Addison disease + + + Preferential parent + + + + + + 85442 + Short stature-pituitary and cerebellar defects-small sella turcica syndrome + + + Preferential parent + + + + + + 88643 + Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome + + + Preferential parent + + + + + + 90301 + Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome + + + Preferential parent + + + + + + 90673 + Hypothyroidism due to TSH receptor mutations + + + Preferential parent + + + + + + 90674 + Isolated thyroid-stimulating hormone deficiency + + + Preferential parent + + + + + + 90692 + Rare endocrine growth disease + + + Preferential parent + + + + + + 90695 + Non-acquired panhypopituitarism + + + Preferential parent + + + + + + 90970 + Primary lipodystrophy + + + Preferential parent + + + + + + 91347 + TSH-secreting pituitary adenoma + + + Preferential parent + + + + + + 91348 + Functioning gonadotropic adenoma + + + Preferential parent + + + + + + 91349 + Non-functioning pituitary adenoma + + + Preferential parent + + + + + + 91350 + Pituitary deficiency due to Rathke cleft cysts + + + Preferential parent + + + + + + 91351 + Pituitary dermoid and epidermoid cysts + + + Preferential parent + + + + + + 91354 + Pituitary deficiency due to empty sella turcica syndrome + + + Preferential parent + + + + + + 91355 + Sheehan syndrome + + + Preferential parent + + + + + + 93111 + HNF1B-related autosomal dominant tubulointerstitial kidney disease + + + Preferential parent + + + + + + 93372 + Familial hypocalciuric hypercalcemia type 1 + + + Preferential parent + + + + + + 94080 + Non-functioning paraganglioma + + + Preferential parent + + + + + + 94089 + Pseudohypoparathyroidism type 1B + + + Preferential parent + + + + + + 94090 + Pseudohypoparathyroidism type 2 + + + Preferential parent + + + + + + 95409 + Acute adrenal insufficiency + + + Preferential parent + + + + + + 95488 + Non-acquired pituitary hormone deficiency + + + Preferential parent + + + + + + 95494 + Combined pituitary hormone deficiencies, genetic forms + + + Preferential parent + + + + + + 95495 + Disease associated with non-acquired combined pituitary hormone deficiency + + + Preferential parent + + + + + + 95496 + Pituitary stalk interruption syndrome + + + Preferential parent + + + + + + 95502 + Acquired pituitary hormone deficiency + + + Preferential parent + + + + + + 95503 + Pituitary hormone deficiency of tumoral origin + + + Preferential parent + + + + + + 95505 + Pituitary hormone deficiency of meningeal origin + + + Preferential parent + + + + + + 95506 + Primary hypophysitis + + + Preferential parent + + + + + + 95512 + Adenohypophysitis + + + Preferential parent + + + + + + 95513 + Panhypophysitis + + + Preferential parent + + + + + + 95611 + Pituitary hormone deficiency of vascular origin + + + Preferential parent + + + + + + 95613 + Pituitary apoplexy + + + Preferential parent + + + + + + 95617 + Pituitary hormone deficiency secondary to a granulomatous disease + + + Preferential parent + + + + + + 95618 + Pituitary hormone deficiency secondary to storage disease + + + Preferential parent + + + + + + 95619 + Post-traumatic pituitary deficiency + + + Preferential parent + + + + + + 95626 + Acquired arginine vasopressin deficiency + + + Preferential parent + + + + + + 95700 + Familial adrenal hypoplasia with absent pituitary luteinizing hormone + + + Preferential parent + + + + + + 95702 + X-linked adrenal hypoplasia congenita + + + Preferential parent + + + + + + 95708 + Rare precocious puberty + + + Preferential parent + + + + + + 95709 + Rare acquired premature ovarian failure + + + Preferential parent + + + + + + 95710 + Rare non-acquired premature ovarian failure + + + Preferential parent + + + + + + 95711 + Congenital hypothyroidism due to developmental anomaly + + + Preferential parent + + + + + + 95712 + Thyroid ectopia + + + Preferential parent + + + + + + 95713 + Athyreosis + + + Preferential parent + + + + + + 95714 + Primary congenital hypothyroidism without thyroid developmental anomaly + + + Preferential parent + + + + + + 95715 + Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies + + + Preferential parent + + + + + + 95716 + Familial thyroid dyshormonogenesis + + + Preferential parent + + + + + + 95717 + Idiopathic congenital hypothyroidism + + + Preferential parent + + + + + + 95718 + Congenital thyroid malformation without hypothyroidism + + + Preferential parent + + + + + + 95719 + Thyroid hemiagenesis + + + Preferential parent + + + + + + 95720 + Thyroid hypoplasia + + + Preferential parent + + + + + + 96253 + Cushing disease + + + Preferential parent + + + + + + 96256 + Somatotropic adenoma + + + Preferential parent + + + + + + 97253 + Neuroendocrine tumor of pancreas + + + Preferential parent + + + + + + 97261 + GRFoma + + + Preferential parent + + + + + + 97278 + PPoma + + + Preferential parent + + + + + + 97279 + Insulinoma + + + Preferential parent + + + + + + 97280 + Glucagonoma + + + Preferential parent + + + + + + 97282 + VIPoma + + + Preferential parent + + + + + + 97283 + Somatostatinoma + + + Preferential parent + + + + + + 97593 + Pseudohypoparathyroidism + + + Preferential parent + + + + + + 98267 + Genetic non-syndromic obesity + + + Preferential parent + + + + + + 98305 + Genetic lipodystrophy + + + Preferential parent + + + + + + 98306 + Familial partial lipodystrophy + + + Preferential parent + + + + + + 98307 + Acquired lipodystrophy + + + Preferential parent + + + + + + 99408 + Pituitary adenoma + + + Preferential parent + + + + + + 99725 + Pituitary gigantism + + + Preferential parent + + + + + + 99819 + Familial gestational hyperthyroidism + + + Preferential parent + + + + + + 99832 + Resistance to thyrotropin-releasing hormone syndrome + + + Preferential parent + + + + + + 99879 + Familial isolated hyperparathyroidism + + + Preferential parent + + + + + + 99880 + Hyperparathyroidism-jaw tumor syndrome + + + Preferential parent + + + + + + 99885 + Isolated permanent neonatal diabetes mellitus + + + Preferential parent + + + + + + 99886 + Transient neonatal diabetes mellitus + + + Preferential parent + + + + + + 99889 + Cushing syndrome due to ectopic ACTH secretion + + + Preferential parent + + + + + + 99892 + ACTH-dependent Cushing syndrome + + + Preferential parent + + + + + + 99989 + Intermediate DEND syndrome + + + Preferential parent + + + + + + 100067 + Waterhouse-Friderichsen syndrome + + + Preferential parent + + + + + + 101049 + Familial hypocalciuric hypercalcemia type 2 + + + Preferential parent + + + + + + 101050 + Familial hypocalciuric hypercalcemia type 3 + + + Preferential parent + + + + + + 101952 + Rare diabetes mellitus + + + Preferential parent + + + + + + 101953 + Rare dyslipidemia + + + Preferential parent + + + + + + 101954 + Rare adrenal disease + + + Preferential parent + + + + + + 101955 + Rare thyroid disease + + + Preferential parent + + + + + + 101956 + Polyendocrinopathy + + + Preferential parent + + + + + + 101957 + Pituitary deficiency + + + Preferential parent + + + + + + 101958 + Primary adrenal insufficiency + + + Preferential parent + + + + + + 101959 + Chronic primary adrenal insufficiency + + + Preferential parent + + + + + + 101960 + Genetic chronic primary adrenal insufficiency + + + Preferential parent + + + + + + 101963 + Acquired chronic primary adrenal insufficiency + + + Preferential parent + + + + + + 140286 + Secondary hypoparathyroidism due to impaired parathormon secretion + + + Preferential parent + + + + + + 140905 + Hyperlipidemia due to hepatic triacylglycerol lipase deficiency + + + Preferential parent + + + + + + 140941 + Short stature due to primary acid-labile subunit deficiency + + + Preferential parent + + + + + + 156638 + Rare genetic endocrine disease + + + Preferential parent + + + + + + 156643 + Genetic endocrine growth disease + + + Preferential parent + + + + + + 165985 + Diazoxide-sensitive diffuse hyperinsulinism + + + Preferential parent + + + + + + 165988 + Diazoxide-resistant diffuse hyperinsulinism + + + Preferential parent + + + + + + 168588 + Hyperandrogenism due to cortisone reductase deficiency + + + Preferential parent + + + + + + 171706 + Short stature-delayed bone age due to thyroid hormone metabolism deficiency + + + Preferential parent + + + + + + 174590 + Congenital hypogonadotropic hypogonadism + + + Preferential parent + + + + + + 177101 + Rare adult hypothyroidism + + + Preferential parent + + + + + + 177107 + Syndromic hypothyroidism + + + Preferential parent + + + + + + 178025 + Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations + + + Preferential parent + + + + + + 178029 + Arginine vasopressin deficiency + + + Preferential parent + + + + + + 178040 + Rare peripheral precocious puberty + + + Preferential parent + + + + + + 178045 + Transient congenital hypothyroidism + + + Preferential parent + + + + + + 178345 + Aromatase excess syndrome + + + Preferential parent + + + + + + 179490 + Obesity due to congenital leptin resistance + + + Preferential parent + + + + + + 179494 + Obesity due to leptin receptor gene deficiency + + + Preferential parent + + + + + + 181368 + Rare insulin-resistance syndrome + + + Preferential parent + + + + + + 181371 + Rare diabetes mellitus type 1 + + + Preferential parent + + + + + + 181376 + Rare diabetes mellitus type 2 + + + Preferential parent + + + + + + 181381 + Other rare diabetes mellitus + + + Preferential parent + + + + + + 181384 + Rare hypothalamic or pituitary disease + + + Preferential parent + + + + + + 181387 + Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism + + + Preferential parent + + + + + + 181390 + Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature + + + Preferential parent + + + + + + 181393 + Growth hormone insensitivity syndrome + + + Preferential parent + + + + + + 181396 + Rare hypothyroidism + + + Preferential parent + + + + + + 181399 + Rare hyperthyroidism + + + Preferential parent + + + + + + 181402 + Syndrome with hypoparathyroidism + + + Preferential parent + + + + + + 181405 + Rare hypoparathyroidism + + + Preferential parent + + + + + + 181408 + Rare hyperparathyroidism + + + Preferential parent + + + + + + 181412 + Adrenogenital syndrome + + + Preferential parent + + + + + + 181415 + Rare primary hyperaldosteronism + + + Preferential parent + + + + + + 181419 + Rare hypoaldosteronism + + + Preferential parent + + + + + + 181422 + Rare hyperlipidemia + + + Preferential parent + + + + + + 181428 + Familial Hyperalphalipoproteinemia + + + Preferential parent + + + + + + 181431 + Rare hypolipidemia + + + Preferential parent + + + + + + 181437 + Rare syndromic dyslipidemia + + + Preferential parent + + + + + + 181441 + Rare disorder with hypergonadotropic hypogonadism + + + Preferential parent + + + + + + 183625 + Rare genetic diabetes mellitus + + + Preferential parent + + + + + + 183628 + Rare genetic hypothalamic or pituitary disease + + + Preferential parent + + + + + + 183631 + Rare genetic thyroid disease + + + Preferential parent + + + + + + 183634 + Rare genetic parathyroid disease and phosphocalcic metabolism disorder + + + Preferential parent + + + + + + 183637 + Rare genetic adrenal disease + + + Preferential parent + + + + + + 183643 + Genetic polyendocrinopathy + + + Preferential parent + + + + + + 189427 + Cushing syndrome due to bilateral macronodular adrenocortical disease + + + Preferential parent + + + + + + 189466 + Familial isolated hypoparathyroidism due to impaired PTH secretion + + + Preferential parent + + + + + + 199244 + Nelson syndrome + + + Preferential parent + + + + + + 199247 + Corticosteroid-binding globulin deficiency + + + Preferential parent + + + + + + 199296 + Congenital isolated ACTH deficiency + + + Preferential parent + + + + + + 199299 + Late-onset isolated ACTH deficiency + + + Preferential parent + + + + + + 208593 + Genetic hypoparathyroidism + + + Preferential parent + + + + + + 208596 + Genetic hyperparathyroidism + + + Preferential parent + + + + + + 209902 + Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency + + + Preferential parent + + + + + + 220465 + Laron syndrome with immunodeficiency + + + Preferential parent + + + + + + 226292 + Permanent congenital hypothyroidism + + + Preferential parent + + + + + + 226295 + Primary congenital hypothyroidism + + + Preferential parent + + + + + + 226298 + Central congenital hypothyroidism + + + Preferential parent + + + + + + 226307 + Hypothyroidism due to deficient transcription factors involved in pituitary development or function + + + Preferential parent + + + + + + 226313 + Congenital hypothyroidism due to maternal intake of antithyroid drugs + + + Preferential parent + + + + + + 226316 + Genetic transient congenital hypothyroidism + + + Preferential parent + + + + + + 227982 + Autoimmune polyendocrinopathy type 3 + + + Preferential parent + + + + + + 227990 + Autoimmune polyendocrinopathy type 4 + + + Preferential parent + + + + + + 228429 + Congenital generalized lipodystrophy type 4 + + + Preferential parent + + + + + + 231580 + Primary unilateral adrenal hyperplasia + + + Preferential parent + + + + + + 231625 + Adrenocortical carcinoma with pure aldosterone hypersecretion + + + Preferential parent + + + + + + 231632 + Ectopic aldosterone-producing tumor + + + Preferential parent + + + + + + 231637 + Rare surgically correctable form of primary aldosteronism + + + Preferential parent + + + + + + 231641 + Rare non surgically correctable form of primary aldosteronism + + + Preferential parent + + + + + + 231662 + Isolated growth hormone deficiency type IA + + + Preferential parent + + + + + + 231671 + Isolated growth hormone deficiency type IB + + + Preferential parent + + + + + + 231679 + Isolated growth hormone deficiency type II + + + Preferential parent + + + + + + 231692 + Isolated growth hormone deficiency type III + + + Preferential parent + + + + + + 231720 + Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome + + + Preferential parent + + + + + + 235936 + Familial hyperaldosteronism + + + Preferential parent + + + + + + 238305 + Infundibulo-neurohypophysitis + + + Preferential parent + + + + + + 238666 + Isolated congenital hypogonadotropic hypogonadism + + + Preferential parent + + + + + + 238670 + Isolated thyrotropin-releasing hormone deficiency + + + Preferential parent + + + + + + 238688 + Neonatal iodine exposure + + + Preferential parent + + + + + + 238696 + Transient congenital hypothyroidism due to maternal factor + + + Preferential parent + + + + + + 238699 + Transient congenital hypothyroidism due to neonatal factor + + + Preferential parent + + + + + + 240371 + Syndromic obesity + + + Preferential parent + + + + + + 251274 + Familial hyperaldosteronism type III + + + Preferential parent + + + + + + 263458 + Hyperinsulinism due to INSR deficiency + + + Preferential parent + + + + + + 276399 + Familial multinodular goiter + + + Preferential parent + + + + + + 276525 + Familial hyperinsulinism + + + Preferential parent + + + + + + 276585 + Diazoxide-resistant hyperinsulinism + + + Preferential parent + + + + + + 276598 + Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency + + + Preferential parent + + + + + + 276603 + Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency + + + Preferential parent + + + + + + 276608 + Non-insulinoma pancreatogenous hypoglycemia syndrome + + + Preferential parent + + + + + + 276621 + Sporadic pheochromocytoma/secreting paraganglioma + + + Preferential parent + + + + + + 280356 + PLIN1-related familial partial lipodystrophy + + + Preferential parent + + + + + + 280365 + Autosomal semi-dominant severe lipodystrophic laminopathy + + + Preferential parent + + + + + + 282196 + Autoimmune polyendocrinopathy + + + Preferential parent + + + + + + 289548 + Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency + + + Preferential parent + + + + + + 293964 + Hypoinsulinemic hypoglycemia and body hemihypertrophy + + + Preferential parent + + + + + + 293978 + Deficiency in anterior pituitary function-variable immunodeficiency syndrome + + + Preferential parent + + + + + + 293987 + Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome + + + Preferential parent + + + + + + 300373 + X-linked acrogigantism + + + Preferential parent + + + + + + 300547 + Autosomal recessive infantile hypercalcemia + + + Preferential parent + + + + + + 300763 + Laminopathy with lipodystrophy + + + Preferential parent + + + + + + 306558 + Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome + + + Preferential parent + + + + + + 309015 + Familial lipoprotein lipase deficiency + + + Preferential parent + + + + + + 309020 + Familial apolipoprotein C-II deficiency + + + Preferential parent + + + + + + 314749 + Rare disease with adrenal Cushing syndrome as a major feature + + + Preferential parent + + + + + + 314753 + Functioning pituitary adenoma + + + Preferential parent + + + + + + 314759 + Mixed functioning pituitary adenoma + + + Preferential parent + + + + + + 314769 + Somatomammotropinoma + + + Preferential parent + + + + + + 314777 + Familial isolated pituitary adenoma + + + Preferential parent + + + + + + 314786 + Silent pituitary adenoma + + + Preferential parent + + + + + + 314790 + Null pituitary adenoma + + + Preferential parent + + + + + + 314802 + Short stature due to partial GHR deficiency + + + Preferential parent + + + + + + 314811 + Short stature due to GHSR deficiency + + + Preferential parent + + + + + + 319205 + Bilateral massive adrenal hemorrhage + + + Preferential parent + + + + + + 324299 + Multiple paragangliomas associated with polycythemia + + + Preferential parent + + + + + + 329235 + X-linked central congenital hypothyroidism with late-onset testicular enlargement + + + Preferential parent + + + + + + 329249 + Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency + + + Preferential parent + + + + + + 369873 + Obesity due to SIM1 deficiency + + + Preferential parent + + + + + + 371861 + Genetic hyperaldosteronism + + + Preferential parent + + + + + + 391665 + Homozygous familial hypercholesterolemia + + + Preferential parent + + + + + + 397615 + Obesity due to CEP19 deficiency + + + Preferential parent + + + + + + 397685 + Familial hyperprolactinemia + + + Preferential parent + + + + + + 399572 + Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder + + + Preferential parent + + + + + + 399584 + Rare male infertility due to adrenal disorder + + + Preferential parent + + + + + + 399685 + Rare male infertility due to testicular endocrine disorder + + + Preferential parent + + + + + + 399831 + Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder + + + Preferential parent + + + + + + 399839 + Rare female infertility due to a congenital hypogonadotropic hypogonadism + + + Preferential parent + + + + + + 399846 + Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism + + + Preferential parent + + + + + + 399849 + Rare female infertility due to an adrenal disorder + + + Preferential parent + + + + + + 399853 + Rare female infertility due to an anomaly of ovarian function + + + Preferential parent + + + + + + 399983 + Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin + + + Preferential parent + + + + + + 399994 + Rare male infertility due to adrenal disorder of genetic origin + + + Preferential parent + + + + + + 400011 + Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin + + + Preferential parent + + + + + + 400018 + Rare female infertility due to adrenal disorder of genetic origin + + + Preferential parent + + + + + + 400022 + Rare female infertility due to an anomaly of ovarian function of genetic origin + + + Preferential parent + + + + + + 411593 + Insulin autoimmune syndrome + + + Preferential parent + + + + + + 435554 + Genetic precocious puberty + + + Preferential parent + + + + + + 435561 + Rare precocious puberty in female + + + Preferential parent + + + + + + 435564 + Genetic precocious puberty in female + + + Preferential parent + + + + + + 435628 + Keppen-Lubinsky syndrome + + + Preferential parent + + + + + + 435651 + CIDEC-related familial partial lipodystrophy + + + Preferential parent + + + + + + 435660 + LIPE-related familial partial lipodystrophy + + + Preferential parent + + + + + + 436144 + Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome + + + Preferential parent + + + + + + 436174 + Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome + + + Preferential parent + + + + + + 436182 + Microcephalic primordial dwarfism-insulin resistance syndrome + + + Preferential parent + + + + + + 443095 + Hyperinsulinemic hypoglycaemia + + + Preferential parent + + + + + + 443101 + Hypothalamic adipsic hypernatraemia syndrome + + + Preferential parent + + + + + + 444490 + Familial chylomicronemia syndrome + + + Preferential parent + + + + + + 444916 + Pseudohypoaldosteronism + + + Preferential parent + + + + + + 445062 + Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome + + + Preferential parent + + + + + + 453533 + Polyendocrine-polyneuropathy syndrome + + + Preferential parent + + + + + + 457062 + Pseudohypoparathyroidism without Albright hereditary osteodystrophy + + + Preferential parent + + + + + + 477811 + Rare hypercholesterolemia + + + Preferential parent + + + + + + 485382 + Rare genetic premature ovarian failure + + + Preferential parent + + + + + + 494433 + MIRAGE syndrome + + + Preferential parent + + + + + + 519298 + Rare scleral disorder + + + Preferential parent + + + + + + 525731 + Pediatric-onset Graves disease + + + Preferential parent + + + + + + 530849 + Familial apolipoprotein A5 deficiency + + + Preferential parent + + + + + + 535453 + Familial lipase maturation factor 1 deficiency + + + Preferential parent + + + + + + 535458 + Familial GPIHBP1 deficiency + + + Preferential parent + + + + + + 544628 + Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome + + + Preferential parent + + + + + + 556030 + Early-onset familial hypoaldosteronism + + + Preferential parent + + + + + + 556037 + Late-onset familial hypoaldosteronism + + + Preferential parent + + + + + + 566231 + Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha + + + Preferential parent + + + + + + 566243 + Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta + + + Preferential parent + + + + + + 573163 + Pheochromocytoma-paraganglioma + + + Preferential parent + + + + + + 595337 + Adrenal hypoplasia congenita + + + Preferential parent + + + + + + 596426 + Syndrome of reduced sensitivity to thyroid hormone + + + Preferential parent + + + + + + 597939 + Euthyroid dysprealbuminemic hyperthyroxinemia + + + Preferential parent + + + + + + 641350 + Immunotherapy induced hypophysitis + + + Preferential parent + + + + + + 641613 + Endogenous Cushing syndrome + + + Preferential parent + + + + + + 642671 + Familial hyperaldosteronism type IV + + + Preferential parent + + + + + + 642691 + Fragile X-associated primary ovarian insufficiency + + + Preferential parent + + + + + + 642788 + Cushing syndrome due to cortisol-producing adrenocortical adenoma + + + Preferential parent + + + + + + 647758 + Adrenal Cushing syndrome + + + Preferential parent + + + + + + 647768 + Rare adrenocortical nodular disease with Cushing syndrome as a major feature + + + Preferential parent + + + + + + 647772 + Isolated primary pigmented nodular adrenocortical disease + + + Preferential parent + + + + + + 647782 + Isolated micronodular adrenocortical disease + + + Preferential parent + + + + + + 649017 + Rare adrenocortical nodular disease + + + Preferential parent + + + + + + 649929 + Central precocious puberty in male + + + Preferential parent + + + + + + 650063 + Rare central precocious puberty + + + Preferential parent + + + + + + 650070 + Rare central precocious puberty in female + + + Preferential parent + + + + + + 650077 + Genetic central precocious puberty in female + + + Preferential parent + + + + + + 650082 + Secondary central precocious puberty in female + + + Preferential parent + + + + + + 650087 + Primary central precocious puberty in male + + + Preferential parent + + + + + + 650092 + Secondary central precocious puberty in male + + + Preferential parent + + + + + + 650097 + Genetic central precocious puberty in male + + + Preferential parent + + + + + + 650102 + Non-genetic central precocious puberty in male + + + Preferential parent + + + + + + 650182 + Genetic central precocious puberty + + + Preferential parent + + + + + + 650187 + Rare peripheral precocious puberty in female + + + Preferential parent + + + + + + 684247 + Isolated growth hormone deficiency type IV + + + Preferential parent + + + + + + 688649 + Isolated adrenal medullary hyperplasia + + + Preferential parent + + + + + + 689401 + Acquired hypothalamic obesity + + + Preferential parent + + + + + + 696189 + Congenital generalized lipodystrophy type 1 + + + Preferential parent + + + + + + 696206 + Congenital generalized lipodystrophy type 3 + + + Preferential parent + + + + + + 696242 + PPARG-associated congenital generalized lipodystrophy + + + Preferential parent + + + + + + 696289 + Congenital generalized lipodystrophy type 2 + + + Preferential parent + + + + + + 715120 + Hyperpituitarism + + + Preferential parent + + + + + + 98004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98004 + Rare immune disease + + + + + 47 + X-linked agammaglobulinemia + + + Preferential parent + + + + + + 906 + Wiskott-Aldrich syndrome + + + Preferential parent + + + + + + 276 + T-B+ severe combined immunodeficiency due to gamma chain deficiency + + + Preferential parent + + + + + + 379 + Chronic granulomatous disease + + + Preferential parent + + + + + + 167 + Chédiak-Higashi syndrome + + + Preferential parent + + + + + + 2442 + X-linked lymphoproliferative disease + + + Preferential parent + + + + + + 540 + Familial hemophagocytic lymphohistiocytosis + + + Preferential parent + + + + + + 1334 + Chronic mucocutaneous candidiasis + + + Preferential parent + + + + + + 1775 + Dyskeratosis congenita + + + Preferential parent + + + + + + 760 + Purine nucleoside phosphorylase deficiency + + + Preferential parent + + + + + + 486 + Autosomal dominant severe congenital neutropenia + + + Preferential parent + + + + + + 2314 + Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency + + + Preferential parent + + + + + + 2587 + Myeloperoxidase deficiency + + + Preferential parent + + + + + + 275 + Severe combined immunodeficiency due to DCLRE1C deficiency + + + Preferential parent + + + + + + 2268 + ICF syndrome + + + Preferential parent + + + + + + 935 + Short-limb skeletal dysplasia with severe combined immunodeficiency + + + Preferential parent + + + + + + 2390 + Lichtenstein syndrome + + + Preferential parent + + + + + + 2690 + Neutropenia-monocytopenia-deafness syndrome + + + Preferential parent + + + + + + 343 + Hyperimmunoglobulinemia D with periodic fever + + + Preferential parent + + + + + + 572 + Immunodeficiency by defective expression of MHC class II + + + Preferential parent + + + + + + 911 + Combined immunodeficiency due to ZAP70 deficiency + + + Preferential parent + + + + + + 3261 + Autoimmune lymphoproliferative syndrome + + + Preferential parent + + + + + + 2968 + Leukocyte adhesion deficiency + + + Preferential parent + + + + + + 2966 + Properdin deficiency + + + Preferential parent + + + + + + 2686 + Cyclic neutropenia + + + Preferential parent + + + + + + 2688 + Adult idiopathic neutropenia + + + Preferential parent + + + + + + 277 + Severe combined immunodeficiency due to adenosine deaminase deficiency + + + Preferential parent + + + + + + 748 + Mendelian susceptibility to mycobacterial diseases + + + Preferential parent + + + + + + 33110 + Autosomal non-syndromic agammaglobulinemia + + + Preferential parent + + + + + + 33355 + Reticular dysgenesis + + + Preferential parent + + + + + + 34592 + Immunodeficiency by defective expression of MHC class I + + + Preferential parent + + + + + + 35078 + T-B+ severe combined immunodeficiency due to JAK3 deficiency + + + Preferential parent + + + + + + 37042 + Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome + + + Preferential parent + + + + + + 39041 + Omenn syndrome + + + Preferential parent + + + + + + 39812 + Graft versus host disease + + + Preferential parent + + + + + + 42642 + PFAPA syndrome + + + Preferential parent + + + + + + 42738 + Severe congenital neutropenia + + + Preferential parent + + + + + + 51636 + WHIM syndrome + + + Preferential parent + + + + + + 70592 + Transient predisposition to invasive pyogenic bacterial infection + + + Preferential parent + + + + + + 70593 + Immunodeficiency due to selective anti-polysaccharide antibody deficiency + + + Preferential parent + + + + + + 75391 + Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency + + + Preferential parent + + + + + + 79124 + Hepatic veno-occlusive disease-immunodeficiency syndrome + + + Preferential parent + + + + + + 79430 + Hermansky-Pudlak syndrome + + + Preferential parent + + + + + + 83471 + T-cell immunodeficiency with thymic aplasia + + + Preferential parent + + + + + + 86788 + X-linked severe congenital neutropenia + + + Preferential parent + + + + + + 90023 + Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency + + + Preferential parent + + + + + + 90081 + AIDS wasting syndrome + + + Preferential parent + + + + + + 98290 + Immunodeficiency-associated lymphoproliferative disease + + + Preferential parent + + + + + + 99749 + Kostmann syndrome + + + Preferential parent + + + + + + 99812 + LIG4 syndrome + + + Preferential parent + + + + + + 99842 + Leukocyte adhesion deficiency type I + + + Preferential parent + + + + + + 99843 + Leukocyte adhesion deficiency type II + + + Preferential parent + + + + + + 99844 + Leukocyte adhesion deficiency type III + + + Preferential parent + + + + + + 99898 + Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency + + + Preferential parent + + + + + + 99920 + Acute graft versus host disease + + + Preferential parent + + + + + + 99921 + Chronic graft versus host disease + + + Preferential parent + + + + + + 101088 + X-linked hyper-IgM syndrome + + + Preferential parent + + + + + + 101089 + Hyper-IgM syndrome type 2 + + + Preferential parent + + + + + + 101090 + Hyper-IgM syndrome type 3 + + + Preferential parent + + + + + + 101091 + Hyper-IgM syndrome type 4 + + + Preferential parent + + + + + + 101092 + Hyper-IgM syndrome type 5 + + + Preferential parent + + + + + + 101972 + Combined T and B cell immunodeficiency + + + Preferential parent + + + + + + 101977 + Immunodeficiency predominantly affecting antibody production + + + Preferential parent + + + + + + 101985 + Quantitative and/or qualitative congenital phagocyte defect + + + Preferential parent + + + + + + 101987 + Congenital neutropenia + + + Preferential parent + + + + + + 101988 + Primary immunodeficiency due to a defect in innate immunity + + + Preferential parent + + + + + + 101992 + Immunodeficiency due to a complement cascade protein anomaly + + + Preferential parent + + + + + + 101997 + Primary immunodeficiency + + + Preferential parent + + + + + + 157949 + Combined immunodeficiency with granulomatosis + + + Preferential parent + + + + + + 158032 + Hemophagocytic syndrome + + + Preferential parent + + + + + + 158038 + Primary hemophagocytic lymphohistiocytosis + + + Preferential parent + + + + + + 158041 + Secondary hemophagocytic lymphohistiocytosis + + + Preferential parent + + + + + + 158048 + Hemophagocytic syndrome associated with an infection + + + Preferential parent + + + + + + 158057 + Acquired hemophagocytic lymphohistiocytosis associated with malignant disease + + + Preferential parent + + + + + + 169079 + Cernunnos-XLF deficiency + + + Preferential parent + + + + + + 169082 + Combined immunodeficiency due to CD3gamma deficiency + + + Preferential parent + + + + + + 169085 + Susceptibility to respiratory infections associated with CD8alpha chain mutation + + + Preferential parent + + + + + + 169090 + Combined immunodeficiency due to CRAC channel dysfunction + + + Preferential parent + + + + + + 169095 + Severe combined immunodeficiency due to FOXN1 deficiency + + + Preferential parent + + + + + + 169100 + Immunodeficiency due to CD25 deficiency + + + Preferential parent + + + + + + 169105 + Thymoma-hypogammaglobulinemia syndrome + + + Preferential parent + + + + + + 169110 + Immunoglobulin heavy chain deficiency + + + Preferential parent + + + + + + 169139 + Transient hypogammaglobulinemia of infancy + + + Preferential parent + + + + + + 169142 + Recurrent infections due to specific granule deficiency + + + Preferential parent + + + + + + 169147 + Immunodeficiency due to a classical component pathway complement deficiency + + + Preferential parent + + + + + + 169150 + Immunodeficiency due to a late component of complement deficiency + + + Preferential parent + + + + + + 169154 + T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency + + + Preferential parent + + + + + + 169157 + T-B+ severe combined immunodeficiency due to CD45 deficiency + + + Preferential parent + + + + + + 169160 + T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta + + + Preferential parent + + + + + + 169346 + DNA repair defect other than combined T-cell and B-cell immunodeficiencies + + + Preferential parent + + + + + + 169355 + Immunodeficiency syndrome with autoimmunity + + + Preferential parent + + + + + + 169361 + Immune dysregulation disease with immunodeficiency + + + Preferential parent + + + + + + 169443 + Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells + + + Preferential parent + + + + + + 169464 + Primary CD59 deficiency + + + Preferential parent + + + + + + 169467 + Recurrent Neisseria infections due to factor D deficiency + + + Preferential parent + + + + + + 178996 + Acquired neutropenia + + + Preferential parent + + + + + + 179006 + Primary immunodeficiency due to a defect in adaptive immunity + + + Preferential parent + + + + + + 183494 + Genetic immune deficiency with skin involvement + + + Preferential parent + + + + + + 183660 + Severe combined immunodeficiency + + + Preferential parent + + + + + + 183663 + Hyper-IgM syndrome with susceptibility to opportunistic infections + + + Preferential parent + + + + + + 183666 + Hyper-IgM syndrome without susceptibility to opportunistic infections + + + Preferential parent + + + + + + 183669 + Agammaglobulinemia + + + Preferential parent + + + + + + 183675 + Recurrent infections associated with rare immunoglobulin isotypes deficiency + + + Preferential parent + + + + + + 183678 + Hermansky-Pudlak syndrome due to AP-3 deficiency + + + Preferential parent + + + + + + 183681 + Congenital functional phagocyte defect + + + Preferential parent + + + + + + 183707 + Infantile LAD-like disease due to RAC2 deficiency + + + Preferential parent + + + + + + 183710 + Genetic susceptibility to infections due to particular pathogens + + + Preferential parent + + + + + + 183770 + Rare genetic immune disease + + + Preferential parent + + + + + + 200418 + Immunodeficiency with factor I anomaly + + + Preferential parent + + + + + + 200421 + Immunodeficiency with factor H anomaly + + + Preferential parent + + + + + + 217390 + Combined immunodeficiency due to DOCK8 deficiency + + + Preferential parent + + + + + + 228000 + Idiopathic CD4 lymphocytopenia + + + Preferential parent + + + + + + 228003 + Severe combined immunodeficiency due to CORO1A deficiency + + + Preferential parent + + + + + + 228423 + GATA2 deficiency spectrum + + + Preferential parent + + + + + + 229717 + Non-syndromic agammaglobulinemia + + + Preferential parent + + + + + + 229720 + Syndromic agammaglobulinemia + + + Preferential parent + + + + + + 231154 + Combined immunodeficiency due to partial RAG1 deficiency + + + Preferential parent + + + + + + 231205 + Common variable immunodeficiency without known genetic defect + + + Preferential parent + + + + + + 231500 + Hermansky-Pudlak syndrome due to BLOC-3 deficiency + + + Preferential parent + + + + + + 231512 + Hermansky-Pudlak syndrome due to BLOC-2 deficiency + + + Preferential parent + + + + + + 231531 + Hermansky-Pudlak syndrome due to BLOC-1 deficiency + + + Preferential parent + + + + + + 238505 + Combined immunodeficiency due to CD27 deficiency + + + Preferential parent + + + + + + 268114 + RAS-associated autoimmune leukoproliferative disease + + + Preferential parent + + + + + + 275517 + Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency + + + Preferential parent + + + + + + 275523 + Dianzani autoimmune lymphoproliferative disease + + + Preferential parent + + + + + + 279934 + Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency + + + Preferential parent + + + + + + 279943 + Hereditary neutrophilia + + + Preferential parent + + + + + + 280133 + Complement component 3 deficiency + + + Preferential parent + + + + + + 280142 + Combined immunodeficiency due to LCK deficiency + + + Preferential parent + + + + + + 290839 + Autoinflammatory syndrome with immune deficiency + + + Preferential parent + + + + + + 306431 + Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies + + + Preferential parent + + + + + + 306550 + FADD-related immunodeficiency + + + Preferential parent + + + + + + 310050 + Acquired immunodeficiency + + + Preferential parent + + + + + + 314689 + Combined immunodeficiency due to STK4 deficiency + + + Preferential parent + + + + + + 317416 + T-B+ severe combined immunodeficiency + + + Preferential parent + + + + + + 317419 + T-B- severe combined immunodeficiency + + + Preferential parent + + + + + + 317425 + Severe combined immunodeficiency due to DNA-PKcs deficiency + + + Preferential parent + + + + + + 317428 + Combined immunodeficiency due to ORAI1 deficiency + + + Preferential parent + + + + + + 317430 + Combined immunodeficiency due to STIM1 deficiency + + + Preferential parent + + + + + + 317473 + Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency + + + Preferential parent + + + + + + 317476 + XMEN + + + Preferential parent + + + + + + 319535 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency + + + Preferential parent + + + + + + 319539 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency + + + Preferential parent + + + + + + 319543 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency + + + Preferential parent + + + + + + 319547 + Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency + + + Preferential parent + + + + + + 319552 + Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency + + + Preferential parent + + + + + + 319558 + Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency + + + Preferential parent + + + + + + 319563 + Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency + + + Preferential parent + + + + + + 319569 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency + + + Preferential parent + + + + + + 319574 + Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency + + + Preferential parent + + + + + + 319581 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency + + + Preferential parent + + + + + + 319589 + Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency + + + Preferential parent + + + + + + 319595 + Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency + + + Preferential parent + + + + + + 319600 + Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency + + + Preferential parent + + + + + + 319605 + X-linked mendelian susceptibility to mycobacterial diseases + + + Preferential parent + + + + + + 324294 + T-cell immunodeficiency with epidermodysplasia verruciformis + + + Preferential parent + + + + + + 324530 + Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation + + + Preferential parent + + + + + + 324636 + Autoerythrocyte sensitization syndrome + + + Preferential parent + + + + + + 329173 + Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis + + + Preferential parent + + + + + + 331176 + Severe congenital neutropenia due to G6PC3 deficiency + + + Preferential parent + + + + + + 331184 + Syndrome with congenital neutropenia as a major feature + + + Preferential parent + + + + + + 331187 + Immunodeficiency due to MASP-2 deficiency + + + Preferential parent + + + + + + 331190 + Immunodeficiency due to ficolin3 deficiency + + + Preferential parent + + + + + + 331193 + Other immunodeficiency syndromes due to defects in innate immunity + + + Preferential parent + + + + + + 331206 + Severe combined immunodeficiency due to complete RAG1/2 deficiency + + + Preferential parent + + + + + + 331217 + Syndrome with combined immunodeficiency + + + Preferential parent + + + + + + 331220 + Syndome with combined immunodeficiency due to thymic defect + + + Preferential parent + + + + + + 331223 + Hyper-IgE syndrome + + + Preferential parent + + + + + + 331226 + Susceptibility to infection due to TYK2 deficiency + + + Preferential parent + + + + + + 331232 + Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells + + + Preferential parent + + + + + + 331235 + Selective IgM deficiency + + + Preferential parent + + + + + + 331240 + Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells + + + Preferential parent + + + + + + 331249 + Primary hemophagocytic lymphohistiocytosis with hypopigmentation + + + Preferential parent + + + + + + 357237 + Combined immunodeficiency due to CARD11 deficiency + + + Preferential parent + + + + + + 357329 + Combined immunodeficiency due to IL21R deficiency + + + Preferential parent + + + + + + 369852 + Congenital neutropenia-myelofibrosis-nephromegaly syndrome + + + Preferential parent + + + + + + 369861 + Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome + + + Preferential parent + + + + + + 391311 + Susceptibility to viral and mycobacterial infections due to STAT1 deficiency + + + Preferential parent + + + + + + 391487 + STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + + + Preferential parent + + + + + + 391655 + Off-periods in Parkinson disease not responding to oral treatment + + + Preferential parent + + + + + + 397596 + Activated PI3K-delta syndrome + + + Preferential parent + + + + + + 397787 + Combined immunodeficiency due to IKBKB deficiency + + + Preferential parent + + + + + + 397802 + T+ B+ severe combined immunodeficiency + + + Preferential parent + + + + + + 397959 + TCR-alpha-beta-positive T-cell deficiency + + + Preferential parent + + + + + + 397964 + Combined immunodeficiency due to MALT1 deficiency + + + Preferential parent + + + + + + 420573 + Severe combined immunodeficiency due to CTPS1 deficiency + + + Preferential parent + + + + + + 420699 + Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency + + + Preferential parent + + + + + + 420702 + Autosomal recessive severe congenital neutropenia due to CSF3R deficiency + + + Preferential parent + + + + + + 420741 + RIDDLE syndrome + + + Preferential parent + + + + + + 423384 + Severe congenital neutropenia due to JAGN1 deficiency + + + Preferential parent + + + + + + 431149 + Combined immunodeficiency due to OX40 deficiency + + + Preferential parent + + + + + + 431156 + Primary immunodeficiency with predisposition to severe viral infection + + + Preferential parent + + + + + + 431166 + Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection + + + Preferential parent + + + + + + 436159 + Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency + + + Preferential parent + + + + + + 437552 + Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity + + + Preferential parent + + + + + + 438159 + STAT3-related early-onset multisystem autoimmune disease + + + Preferential parent + + + + + + 439849 + Autosomal recessive severe congenital neutropenia + + + Preferential parent + + + + + + 445018 + Syndromic autoimmune enteropathy due to LRBA deficiency + + + Preferential parent + + + + + + 447731 + NIK deficiency + + + Preferential parent + + + + + + 447737 + Combined immunodeficiency due to DOCK2 deficiency + + + Preferential parent + + + + + + 447740 + Aggressive periodontitis + + + Preferential parent + + + + + + 457088 + Predisposition to invasive fungal disease due to CARD9 deficiency + + + Preferential parent + + + + + + 459345 + Immunodeficiency due to a complement cascade component deficiency + + + Preferential parent + + + + + + 459348 + Immunodeficiency due to a complement regulatory deficiency + + + Preferential parent + + + + + + 464336 + BENTA disease + + + Preferential parent + + + + + + 464370 + Neonatal alloimmune neutropenia + + + Preferential parent + + + + + + 476113 + Combined immunodeficiency due to TFRC deficiency + + + Preferential parent + + + + + + 477857 + Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency + + + Preferential parent + + + + + + 480549 + Non-severe combined immunodeficiency + + + Preferential parent + + + + + + 504523 + Severe combined immunodeficiency due to LAT deficiency + + + Preferential parent + + + + + + 504530 + Combined immunodeficiency due to Moesin deficiency + + + Preferential parent + + + + + + 505227 + Combined immunodeficiency due to GINS1 deficiency + + + Preferential parent + + + + + + 538931 + X-linked lymphoproliferative disease due to SAP deficiency + + + Preferential parent + + + + + + 538934 + X-linked lymphoproliferative disease due to XIAP deficiency + + + Preferential parent + + + + + + 538958 + EBV-induced lymphoproliferative disease due to CD70 deficiency + + + Preferential parent + + + + + + 538963 + Combined immunodeficiency due to ITK deficiency + + + Preferential parent + + + + + + 542301 + EBV-induced lymphoproliferative disease due to CARMIL2 deficiency + + + Preferential parent + + + + + + 574918 + Predisposition to severe viral infection due to IRF7 deficiency + + + Preferential parent + + + + + + 574957 + Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency + + + Preferential parent + + + + + + 596759 + Combined immunodeficiency due to RELA haploinsufficiency + + + Preferential parent + + + + + + 619941 + Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency + + + Preferential parent + + + + + + 619948 + Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency + + + Preferential parent + + + + + + 619953 + Familial hyperinflammatory lymphoproliferative immunodeficiency + + + Preferential parent + + + + + + 619972 + CADINS disease + + + Preferential parent + + + + + + 619979 + Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome + + + Preferential parent + + + + + + 641368 + Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency + + + Preferential parent + + + + + + 647804 + Combined immunodeficiency due to FCHO1 deficiency + + + Preferential parent + + + + + + 653751 + X-linked combined immunodeficiency due to SASH3 deficiency + + + Preferential parent + + + + + + 656300 + Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency + + + Preferential parent + + + + + + 656313 + Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency + + + Preferential parent + + + + + + 656326 + Autosomal recessive combined immunodeficiency due to IL6R deficiency + + + Preferential parent + + + + + + 656912 + Autosomal dominant combined immunodeficiency due to ERBIN deficiency + + + Preferential parent + + + + + + 658946 + Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency + + + Preferential parent + + + + + + 658951 + Early-onset immune dysregulation due to DOCK11 complete deficiency + + + Preferential parent + + + + + + 664456 + Immune dysregulation disease with immunodeficiency associated with EBV susceptibility + + + Preferential parent + + + + + + 664482 + Primary hemophagocytic lymphohistiocytosis without hypopigmentation + + + Preferential parent + + + + + + 664500 + Hermansky-Pudlak syndrome due to AP3B1 deficiency + + + Preferential parent + + + + + + 664511 + Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency + + + Preferential parent + + + + + + 664699 + EBV-induced lymphoproliferative disease due to RASGRP1 deficiency + + + Preferential parent + + + + + + 664711 + EBV-induced lymphoproliferative disease due to PRKCD deficiency + + + Preferential parent + + + + + + 664726 + EBV-induced lymphoproliferative disease due to CD137 deficiency + + + Preferential parent + + + + + + 664729 + EBV-induced lymphoproliferative disease due to TET2 deficiency + + + Preferential parent + + + + + + 664734 + EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature + + + Preferential parent + + + + + + 674648 + Syndrome with congenital phagocyte functional defect as a major feature + + + Preferential parent + + + + + + 674896 + Non-syndromic congenital phagocyte functional defect + + + Preferential parent + + + + + + 675628 + TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome + + + Preferential parent + + + + + + 675767 + Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency + + + Preferential parent + + + + + + 676039 + Combined immunodeficiency due to FOXN1 haploinsufficiency + + + Preferential parent + + + + + + 676125 + X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency + + + Preferential parent + + + + + + 688543 + Reticular dysgenesis-like severe combined immunodeficiency + + + Preferential parent + + + + + + 688563 + Combined immunodeficiency with normal Ig and poor specific antibody response + + + Preferential parent + + + + + + 688571 + Combined immunodeficiency with low immunoglobulins and normal B cells + + + Preferential parent + + + + + + 688594 + Combined immunodeficiency due to RELB deficiency + + + Preferential parent + + + + + + 692812 + RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome + + + Preferential parent + + + + + + 693627 + Agammaglobulinemia-skin involvement-failure to thrive syndrome + + + Preferential parent + + + + + + 693647 + Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome + + + Preferential parent + + + + + + 693661 + Activated PI3K-delta syndrome 1 + + + Preferential parent + + + + + + 693681 + Activated PI3K-delta syndrome 2 + + + Preferential parent + + + + + + 695164 + Combined immunodeficiency with low B cells and hypogammaglobulinemia + + + Preferential parent + + + + + + 695172 + Combined immunodeficiency due to dimerization defective IKAROS mutation + + + Preferential parent + + + + + + 695183 + Late-onset combined immunodeficiency due to ICOS deficiency + + + Preferential parent + + + + + + 695191 + Late-onset combined immunodeficiency due to ICOSL deficiency + + + Preferential parent + + + + + + 695807 + Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome + + + Preferential parent + + + + + + 696851 + Common variable immunodeficiency and related disorders + + + Preferential parent + + + + + + 696857 + Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations + + + Preferential parent + + + + + + 696863 + Common variable immunodeficiency phenotype due to somatic mutations + + + Preferential parent + + + + + + 696870 + Common variable immunodeficiency phenotype due to germinal monogenic mutation + + + Preferential parent + + + + + + 696874 + NFKB1-related immune dysregulation + + + Preferential parent + + + + + + 696881 + Common variable immunodeficiency phenotype due to CD19/CD81 deficiency + + + Preferential parent + + + + + + 696894 + Common variable immunodeficiency phenotype due to CD21 deficiency + + + Preferential parent + + + + + + 696904 + Common variable immunodeficiency phenotype due to IRF2BP2 deficiency + + + Preferential parent + + + + + + 696907 + Common variable immunodeficiency phenotype due to homozygous TACI deficiency + + + Preferential parent + + + + + + 696925 + Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency + + + Preferential parent + + + + + + 696931 + Common variable immunodeficiency phenotype due to TWEAK deficiency + + + Preferential parent + + + + + + 696942 + Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency + + + Preferential parent + + + + + + 696945 + X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency + + + Preferential parent + + + + + + 697385 + Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency + + + Preferential parent + + + + + + 697389 + Combined immunodeficiency due to HELIOS deficiency + + + Preferential parent + + + + + + 697394 + Combined immunodeficiency due to c-REL deficiency + + + Preferential parent + + + + + + 697403 + Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency + + + Preferential parent + + + + + + 697414 + Early-onset combined 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diseases due to complete IFNG deficiency + + + Preferential parent + + + + + + 700205 + Combined immunodeficiency due to IKBKB gain-of-function mutation + + + Preferential parent + + + + + + 97992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97992 + Rare hematologic disease + + + + + 447 + Paroxysmal nocturnal hemoglobinuria + + + Preferential parent + + + + + + 846 + Alpha-thalassemia + + + Preferential parent + + + + + + 848 + Beta-thalassemia + + + Preferential parent + + + + + + 232 + Sickle cell anemia + + + Preferential parent + + + + + + 124 + Diamond-Blackfan anemia + + + Preferential parent + + + + + + 3151 + Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome + + + Preferential parent + + + + + + 3204 + Stormorken-Sjaastad-Langslet syndrome + + + Preferential parent + + + + + + 448 + Hemophilia + + + Preferential parent + + + + + + 32 + Glutathione synthetase deficiency + + + Preferential parent + + + + + + 3002 + Immune thrombocytopenia + + + Preferential parent + + + + + + 1195 + Congenital atransferrinemia + + + Preferential parent + + + + + + 274 + Bernard-Soulier syndrome + + + Preferential parent + + + + + + 330 + Congenital factor XII deficiency + + + Preferential parent + + + + + + 1959 + Evans syndrome + + + Preferential parent + + + + + + 327 + Congenital factor VII deficiency + + + Preferential parent + + + + + + 326 + Congenital factor V deficiency + + + Preferential parent + + + + + + 1047 + Sideroblastic anemia + + + Preferential parent + + + + + + 859 + Transcobalamin deficiency + + + Preferential parent + + + + + + 3088 + Revesz syndrome + + + Preferential parent + + + + + + 3319 + Congenital amegakaryocytic thrombocytopenia + + + Preferential parent + + + + + + 822 + Hereditary spherocytosis + + + Preferential parent + + + + + + 766 + Hemolytic anemia due to red cell pyruvate kinase deficiency + + + Preferential parent + + + + + + 743 + Severe hereditary thrombophilia due to congenital protein S deficiency + + + Preferential parent + + + + + + 325 + Congenital factor II deficiency + + + Preferential parent + + + + + + 3324 + Familial thrombomodulin anomalies + + + Preferential parent + + + + + + 3325 + Classic heparin-induced thrombocytopenia + + + Preferential parent + + + + + + 621 + Autosomal recessive methemoglobinemia + + + Preferential parent + + + + + + 712 + Hemolytic anemia due to glucophosphate isomerase deficiency + + + Preferential parent + + + + + + 714 + Hemolytic anemia due to diphosphoglycerate mutase deficiency + + + Preferential parent + + + + + + 335 + Congenital fibrinogen deficiency + + + Preferential parent + + + + + + 79 + Congenital alpha2-antiplasmin deficiency + + + Preferential parent + + + + + + 331 + Congenital factor XIII deficiency + + + Preferential parent + + + + + + 332 + Congenital intrinsic factor deficiency + + + Preferential parent + + + + + + 851 + Paris-Trousseau thrombocytopenia + + + Preferential parent + + + + + + 849 + Glanzmann thrombasthenia + + + Preferential parent + + + + + + 745 + Severe hereditary thrombophilia due to congenital protein C deficiency + + + Preferential parent + + + + + + 2330 + Kasabach-Merritt phenomenon + + + Preferential parent + + + + + + 3260 + Idiopathic hypereosinophilic syndrome + + + Preferential parent + + + + + + 903 + Von Willebrand disease + + + Preferential parent + + + + + + 85 + Congenital dyserythropoietic anemia + + + Preferential parent + + + + + + 82 + Hereditary thrombophilia due to congenital antithrombin deficiency + + + Preferential parent + + + + + + 3318 + Essential thrombocythemia + + + Preferential parent + + + + + + 160 + Castleman disease + + + Preferential parent + + + + + + 328 + Congenital factor X deficiency + + + Preferential parent + + + + + + 2132 + Hemoglobin C disease + + + Preferential parent + + + + + + 2133 + Hemoglobin E disease + + + Preferential parent + + + + + + 288 + Hereditary elliptocytosis + + + Preferential parent + + + + + + 3203 + Overhydrated hereditary stomatocytosis + + + Preferential parent + + + + + + 3202 + Dehydrated hereditary stomatocytosis + + + Preferential parent + + + + + + 329 + Congenital factor XI deficiency + + + Preferential parent + + + + + + 811 + Shwachman-Diamond syndrome + + + Preferential parent + + + + + + 806 + Scott syndrome + + + Preferential parent + + + + + + 852 + X-linked thrombocytopenia with normal platelets + + + Preferential parent + + + + + + 465 + Congenital plasminogen activator inhibitor type 1 deficiency + + + Preferential parent + + + + + + 853 + Fetal and neonatal alloimmune thrombocytopenia + + + Preferential parent + + + + + + 483 + Congenital high-molecular-weight kininogen deficiency + + + Preferential parent + + + + + + 722 + Hypoplasminogenemia + + + Preferential parent + + + + + + 749 + Congenital prekallikrein deficiency + + + Preferential parent + + + + + + 734 + Alpha delta granule deficiency + + + Preferential parent + + + + + + 721 + Gray platelet syndrome + + + Preferential parent + + + + + + 729 + Polycythemia vera + + + Preferential parent + + + + + + 88 + Idiopathic aplastic anemia + + + Preferential parent + + + + + + 26348 + Acquired prothrombin deficiency + + + Preferential parent + + + + + + 26349 + Protein S acquired deficiency + + + Preferential parent + + + + + + 33574 + Glutamate-cysteine ligase deficiency + + + Preferential parent + + + + + + 35120 + Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency + + + Preferential parent + + + + + + 35858 + Imerslund-Gräsbeck syndrome + + + Preferential parent + + + + + + 35909 + Combined deficiency of factor V and factor VIII + + + Preferential parent + + + + + + 36355 + Bleeding disorder due to P2Y12 defect + + + Preferential parent + + + + + + 68334 + Rare hemorrhagic disorder due to a constitutional coagulation factors defect + + + Preferential parent + + + + + + 68364 + Hemoglobinopathy + + + Preferential parent + + + + + + 68383 + Rare constitutional aplastic anemia + + + Preferential parent + + + + + + 46532 + Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome + + + Preferential parent + + + + + + 49566 + Acquired purpura fulminans + + + Preferential parent + + + + + + 49827 + Thiamine-responsive megaloblastic anemia syndrome + + + Preferential parent + + + + + + 52530 + Pseudo-von Willebrand disease + + + Preferential parent + + + + + + 54028 + Plummer-Vinson syndrome + + + Preferential parent + + + + + + 54057 + Thrombotic thrombocytopenic purpura + + + Preferential parent + + + + + + 56425 + Cold agglutinin disease + + + Preferential parent + + + + + + 67044 + Thrombocytopenia with congenital dyserythropoietic anemia + + + Preferential parent + + + + + + 71202 + Rare hemorrhagic disorder due to a constitutional platelet anomaly + + + Preferential parent + + + + + + 71203 + Autoimmune thrombocytopenia + + + Preferential parent + + + + + + 71275 + Rh deficiency syndrome + + + Preferential parent + + + + + + 71290 + Familial platelet disorder with associated myeloid malignancy + + + Preferential parent + + + + + + 71493 + Familial thrombocytosis + + + Preferential parent + + + + + + 73271 + Bleeding diathesis due to a collagen receptor defect + + + Preferential parent + + + + + + 75563 + X-linked sideroblastic anemia + + + Preferential parent + + + + + + 75564 + Acquired idiopathic sideroblastic anemia + + + Preferential parent + + + + + + 83639 + Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency + + + Preferential parent + + + + + + 83642 + Microcytic anemia with liver iron overload + + + Preferential parent + + + + + + 86816 + Congenital analbuminemia + + + Preferential parent + + + + + + 86817 + Hemolytic anemia due to adenylate kinase deficiency + + + Preferential parent + + + + + + 90030 + Hemolytic anemia due to glutathione reductase deficiency + + + Preferential parent + + + + + + 90031 + Non-spherocytic hemolytic anemia due to hexokinase deficiency + + + Preferential parent + + + + + + 90033 + Autoimmune hemolytic anemia, warm type + + + Preferential parent + + + + + + 90035 + Paroxysmal cold hemoglobinuria + + + Preferential parent + + + + + + 90036 + Mixed-type autoimmune hemolytic anemia + + + Preferential parent + + + + + + 90037 + Drug-induced autoimmune hemolytic anemia + + + Preferential parent + + + + + + 90038 + Shiga toxin-associated hemolytic uremic syndrome + + + Preferential parent + + + + + + 90039 + Hemoglobin D disease + + + Preferential parent + + + + + + 90041 + Gaisböck syndrome + + + Preferential parent + + + + + + 90042 + Primary familial polycythemia + + + Preferential parent + + + + + + 90044 + Familial pseudohyperkalemia + + + Preferential parent + + + + + + 90045 + Hereditary folate malabsorption + + + Preferential parent + + + + + + 90076 + Partial deep dermal and full thickness burns + + + Preferential parent + + + + + + 91139 + Simple cryoglobulinemia + + + Preferential parent + + + + + + 93583 + Congenital thrombotic thrombocytopenic purpura + + + Preferential parent + + + + + + 93585 + Immune-mediated thrombotic thrombocytopenic purpura + + + Preferential parent + + + + + + 93616 + Hemoglobin H disease + + + Preferential parent + + + + + + 93685 + Unicentric Castleman disease + + + Preferential parent + + + + + + 94059 + Uremic pruritus + + + Preferential parent + + + + + + 98360 + Constitutional anemia due to iron metabolism disorder + + + Preferential parent + + + + + + 98362 + Constitutional sideroblastic anemia + + + Preferential parent + + + + + + 98363 + Rare hemolytic anemia + + + Preferential parent + + + + + + 98364 + Rare constitutional hemolytic anemia due to a red cell membrane anomaly + + + Preferential parent + + + + + + 98365 + Hereditary stomatocytosis + + + Preferential parent + + + + + + 98366 + Constitutional hemolytic anemia due to acanthocytosis + + + Preferential parent + + + + + + 98369 + Rare constitutional hemolytic anemia due to an enzyme disorder + + + Preferential parent + + + + + + 98370 + Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies + + + Preferential parent + + + + + + 98372 + Hemolytic anemia due to a disorder of glycolytic enzymes + + + Preferential parent + + + + + + 98374 + Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder + + + Preferential parent + + + + + + 98375 + Autoimmune hemolytic anemia + + + Preferential parent + + + + + + 98396 + Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder + + + Preferential parent + + + + + + 98408 + Constitutional megaloblastic anemia due to folate metabolism disorder + + + Preferential parent + + + + + + 98415 + Vitamin B12- and folate-independent constitutional megaloblastic anemia + + + Preferential parent + + + + + + 98421 + Primary acquired red cell aplasia + + + Preferential parent + + + + + + 98427 + Polycythemia + + + Preferential parent + + + + + + 98428 + Secondary polycythemia + + + Preferential parent + + + + + + 98429 + Rare coagulation disorder + + + Preferential parent + + + + + + 98434 + Hereditary combined deficiency of vitamin K-dependent clotting factors + + + Preferential parent + + + + + + 98455 + Alpha granule disease + + + Preferential parent + + + + + + 98456 + Dense granule disease + + + Preferential parent + + + + + + 98868 + Southeast Asian ovalocytosis + + + Preferential parent + + + + + + 98869 + Congenital dyserythropoietic anemia type I + + + Preferential parent + + + + + + 98870 + Congenital dyserythropoietic anemia type III + + + Preferential parent + + + + + + 98871 + Transient erythroblastopenia of childhood + + + Preferential parent + + + + + + 98872 + Primary acquired pure red cell aplasia + + + Preferential parent + + + + + + 98873 + Congenital dyserythropoietic anemia type II + + + Preferential parent + + + + + + 98878 + Hemophilia A + + + Preferential parent + + + + + + 98879 + Hemophilia B + + + Preferential parent + + + + + + 98880 + Familial afibrinogenemia + + + Preferential parent + + + + + + 98881 + Familial dysfibrinogenemia + + + Preferential parent + + + + + + 98885 + Bleeding diathesis due to glycoprotein VI deficiency + + + Preferential parent + + + + + + 98886 + Bleeding diathesis due to integrin alpha2-beta1 deficiency + + + Preferential parent + + + + + + 99135 + 6-phosphogluconate dehydrogenase deficiency + + + Preferential parent + + + + + + 99138 + Hemolytic anemia due to erythrocyte adenosine deaminase overproduction + + + Preferential parent + + + + + + 99147 + Acquired von Willebrand syndrome + + + Preferential parent + + + + + + 101041 + Familial hypofibrinogenemia + + + Preferential parent + + + + + + 108997 + Rare anemia + + + Preferential parent + + + + + + 140957 + Autosomal dominant macrothrombocytopenia + + + Preferential parent + + + + + + 158300 + Rare genetic hematologic disease + + + Preferential parent + + + + + + 163596 + Hemoglobin Bart's fetalis syndrome + + + Preferential parent + + + + + + 164823 + Rare acquired aplastic anemia + + + Preferential parent + + + + + + 166078 + Von Willebrand disease type 1 + + + Preferential parent + + + + + + 166081 + Von Willebrand disease type 2 + + + Preferential parent + + + + + + 166084 + Von Willebrand disease type 2A + + + Preferential parent + + + + + + 166087 + Von Willebrand disease type 2B + + + Preferential parent + + + + + + 166090 + Von Willebrand disease type 2M + + + Preferential parent + + + + + + 166093 + Von Willebrand disease type 2N + + + Preferential parent + + + + + + 166096 + Von Willebrand disease type 3 + + + Preferential parent + + + + + + 166775 + Rare hemorrhagic disorder due to an acquired coagulation factor defect + + + Preferential parent + + + + + + 168577 + Hereditary cryohydrocytosis with reduced stomatin + + + Preferential parent + + + + + + 168629 + Autosomal thrombocytopenia with normal platelets + + + Preferential parent + + + + + + 168956 + Hypereosinophilic syndrome + + + Preferential parent + + + + + + 169793 + Severe hemophilia B + + + Preferential parent + + + + + + 169796 + Moderate hemophilia B + + + Preferential parent + + + + + + 169799 + Mild hemophilia B + + + Preferential parent + + + + + + 169802 + Severe hemophilia A + + + Preferential parent + + + + + + 169805 + Moderate hemophilia A + + + Preferential parent + + + + + + 169808 + Mild hemophilia A + + + Preferential parent + + + + + + 169826 + Congenital vitamin K-dependent coagulation factors deficiency + + + Preferential parent + + + + + + 177926 + Bleeding disorder in hemophilia A carriers + + + Preferential parent + + + + + + 177929 + Bleeding disorder in hemophilia B carriers + + + Preferential parent + + + + + + 178396 + Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation + + + Preferential parent + + + + + + 182040 + Rare aplastic anemia + + + Preferential parent + + + + + + 182043 + Rare constitutional hemolytic anemia + + + Preferential parent + + + + + + 182047 + Rare acquired hemolytic anemia + + + Preferential parent + + + + + + 182050 + MYH9-related syndromic thrombocytopenia + + + Preferential parent + + + + + + 182054 + Rare thrombotic disease of hematologic origin + + + Preferential parent + + + + + + 183651 + Rare constitutional anemia + + + Preferential parent + + + + + + 183654 + Rare genetic coagulation disorder + + + Preferential parent + + + + + + 209016 + Hematological disease associated with an acquired peripheral neuropathy + + + Preferential parent + + + + + + 209981 + IRIDA syndrome + + + Preferential parent + + + + + + 217454 + Rare hereditary thrombophilia + + + Preferential parent + + + + + + 217467 + Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency + + + Preferential parent + + + + + + 220436 + Quebec platelet disorder + + + Preferential parent + + + + + + 220443 + Bleeding diathesis due to thromboxane synthesis deficiency + + + Preferential parent + + + + + + 220448 + Macrothrombocytopenia with mitral valve insufficiency + + + Preferential parent + + + + + + 220452 + Isolated hereditary giant platelet disorder + + + Preferential parent + + + + + + 228312 + Autoimmune hemolytic anemia, cold type + + + Preferential parent + + + + + + 231214 + Beta-thalassemia major + + + Preferential parent + + + + + + 231222 + Beta-thalassemia intermedia + + + Preferential parent + + + + + + 231226 + Unstable beta globin chain variant disease + + + Preferential parent + + + + + + 231230 + Beta-thalassemia associated with another hemoglobin anomaly + + + Preferential parent + + + + + + 231237 + Delta-beta-thalassemia + + + Preferential parent + + + + + + 231242 + Hemoglobin C-beta-thalassemia syndrome + + + Preferential parent + + + + + + 231249 + Hemoglobin E-beta-thalassemia syndrome + + + Preferential parent + + + + + + 231386 + Syndromic beta-thalassemia + + + Preferential parent + + + + + + 231393 + Beta-thalassemia-X-linked thrombocytopenia syndrome + + + Preferential parent + + + + + + 231401 + Alpha-thalassemia-myelodysplastic syndrome + + + Preferential parent + + + + + + 232288 + Syndrome with alpha-thalassemia as a major feature + + + Preferential parent + + + + + + 238536 + Congenital secondary polycythemia + + + Preferential parent + + + + + + 238547 + Acquired secondary polycythemia + + + Preferential parent + + + + + + 238557 + Chuvash erythrocytosis + + + Preferential parent + + + + + + 244242 + HELLP syndrome + + + Preferential parent + + + + + + 247378 + Autosomal recessive secondary polycythemia not associated with VHL gene + + + Preferential parent + + + + + + 247511 + Autosomal dominant secondary polycythemia + + + Preferential parent + + + + + + 248293 + Rare deficiency anemia + + + Preferential parent + + + + + + 248296 + Constitutional deficiency anemia + + + Preferential parent + + + + + + 248302 + Rare acquired deficiency anemia + + + Preferential parent + + + + + + 248308 + Rare hemorrhagic disorder + + + Preferential parent + + + + + + 248315 + Rare hemorrhagic disorder due to a coagulation factors defect + + + Preferential parent + + + + + + 248326 + Rare hemorrhagic disorder due to a platelet anomaly + + + Preferential parent + + + + + + 248340 + Isolated delta-storage pool disease + + + Preferential parent + + + + + + 248347 + Rare hemorrhagic disorder due to an acquired platelet anomaly + + + Preferential parent + + + + + + 248358 + Rare thrombotic disorder due to a coagulation factors defect + + + Preferential parent + + + + + + 248361 + Rare thrombotic disorder due to a constitutional coagulation factors defect + + + Preferential parent + + + + + + 248365 + Rare thrombotic disorder due to an acquired coagulation factors defect + + + Preferential parent + + + + + + 248368 + Rare thrombotic disorder due to a platelet anomaly + + + Preferential parent + + + + + + 248401 + Rare thrombotic disorder due to a constitutional platelet anomaly + + + Preferential parent + + + + + + 248404 + Rare thrombotic disorder due to an acquired platelet anomaly + + + Preferential parent + + + + + + 248408 + Familial hypodysfibrinogenemia + + + Preferential parent + + + + + + 250165 + Genetic polycythemia + + + Preferential parent + + + + + + 251359 + Sickle cell-beta-thalassemia disease + + + Preferential parent + + + + + + 251365 + Sickle cell S-C disease + + + Preferential parent + + + + + + 251370 + Sickle cell S-D Punjab disease + + + Preferential parent + + + + + + 251375 + Sickle cell S-E disease + + + Preferential parent + + + + + + 251380 + Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome + + + Preferential parent + + + + + + 255132 + Adult-onset autosomal recessive sideroblastic anemia + + + Preferential parent + + + + + + 260305 + Autosomal recessive sideroblastic anemia + + + Preferential parent + + + + + + 268322 + Hereditary thrombocytopenia with normal platelets + + + Preferential parent + + + + + + 275729 + Rare hemorrhagic disorder due to a constitutional thrombocytopenia + + + Preferential parent + + + + + + 275736 + Rare hemorrhagic disorder due to a qualitative platelet defect + + + Preferential parent + + + + + + 275745 + Alpha-thalassemia and related disorders + + + Preferential parent + + + + + + 275749 + Beta-thalassemia and related disorders + + + Preferential parent + + + + + + 275752 + Sickle cell disease + + + Preferential parent + + + + + + 275938 + Hemolytic disease due to fetomaternal alloimmunization + + + Preferential parent + + + + + + 275944 + Hemolytic disease of the newborn with Kell alloimmunization + + + Preferential parent + + + + + + 280615 + Low oxygen affinity gamma chain hemoglobin disease + + + Preferential parent + + + + + + 289846 + Glutathione synthetase deficiency with 5-oxoprolinuria + + + Preferential parent + + + + + + 289849 + Glutathione synthetase deficiency without 5-oxoprolinuria + + + Preferential parent + + + + + + 293825 + Congenital dyserythropoietic anemia type IV + + + Preferential parent + + + + + + 293830 + Constitutional dyserythropoietic anemia + + + Preferential parent + + + + + + 300298 + Severe congenital hypochromic anemia with ringed sideroblasts + + + Preferential parent + + + + + + 300324 + Persistent polyclonal B-cell lymphocytosis + + + Preferential parent + + + + + + 314399 + Autosomal dominant aplasia and myelodysplasia + + + Preferential parent + + + + + + 314950 + Primary hypereosinophilic syndrome + + + Preferential parent + + + + + + 314962 + Secondary hypereosinophilic syndrome + + + Preferential parent + + + + + + 314970 + Lymphocytic hypereosinophilic syndrome + + + Preferential parent + + + + + + 319651 + Constitutional megaloblastic anemia with severe neurologic disease + + + Preferential parent + + + + + + 330032 + Hemoglobin Lepore-beta-thalassemia syndrome + + + Preferential parent + + + + + + 330041 + Hemoglobin M disease + + + Preferential parent + + + + + + 357008 + Hemolytic uremic syndrome with DGKE deficiency + + + Preferential parent + + + + + + 363727 + X-linked dyserythropoietic anemia with abnormal platelets and neutropenia + + + Preferential parent + + + + + + 370127 + Medich giant platelet syndrome + + + Preferential parent + + + + + + 370131 + White platelet syndrome + + + Preferential parent + + + + + + 391320 + East Texas bleeding disorder + + + Preferential parent + + + + + + 397692 + Hereditary isolated aplastic anemia + + + Preferential parent + + + + + + 398088 + Hereditary cryohydrocytosis with normal stomatin + + + Preferential parent + + + + + + 401764 + Pancytopenia-developmental delay syndrome + + + Preferential parent + + + + + + 420566 + Bleeding disorder due to CalDAG-GEFI deficiency + + + Preferential parent + + + + + + 420611 + Transient myeloproliferative syndrome + + + Preferential parent + + + + + + 436169 + Thrombomodulin-related bleeding disorder + + + Preferential parent + + + + + + 438207 + Severe autosomal recessive macrothrombocytopenia + + + Preferential parent + + + + + + 440731 + L-ferritin deficiency + + + Preferential parent + + + + + + 450322 + Polyclonal hyperviscosity syndrome + + + Preferential parent + + + + + + 464453 + Acquired methemoglobinemia + + + Preferential parent + + + + + + 466026 + Class I glucose-6-phosphate dehydrogenase deficiency + + + Preferential parent + + + + + + 466066 + Genetic hemoglobinopathy + + + Preferential parent + + + + + + 466806 + Autosomal dominant thrombocytopenia with platelet secretion defect + + + Preferential parent + + + + + + 477787 + Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder + + + Preferential parent + + + + + + 477794 + Syndromic constitutional thrombocytopenia + + + Preferential parent + + + + + + 477797 + Isolated constitutional thrombocytopenia + + + Preferential parent + + + + + + 480851 + Hereditary thrombocytopenia with early-onset myelofibrosis + + + Preferential parent + + + + + + 487796 + Takenouchi-Kosaki syndrome + + + Preferential parent + + + + + + 566192 + Congenital autosomal recessive small-platelet thrombocytopenia + + + Preferential parent + + + + + + 570431 + Idiopathic multicentric Castleman disease + + + Preferential parent + + + + + + 570438 + HHV-8-associated multicentric Castleman disease + + + Preferential parent + + + + + + 570470 + Ricin poisoning + + + Preferential parent + + + + + + 599480 + Acquired hemophilia A + + + Preferential parent + + + + + + 599485 + Acquired hemophilia B + + + Preferential parent + + + + + + 599490 + Acquired factor V deficiency + + + Preferential parent + + + + + + 599495 + Acquired factor VII deficiency + + + Preferential parent + + + + + + 599501 + Acquired factor X deficiency + + + Preferential parent + + + + + + 599507 + Acquired factor XI deficiency + + + Preferential parent + + + + + + 599513 + Acquired factor XIII deficiency + + + Preferential parent + + + + + + 599519 + Factor V short isoforms-related bleeding disorder + + + Preferential parent + + + + + + 599579 + Factor V Amsterdam bleeding disorder + + + Preferential parent + + + + + + 600194 + Factor V Atlanta bleeding disorder + + + Preferential parent + + + + + + 600691 + Combined deficiency of factor VII and factor X + + + Preferential parent + + + + + + 611216 + Aplastic anemia-intellectual disability-dwarfism syndrome + + + Preferential parent + + + + + + 617930 + Hemophilia B Leyden + + + Preferential parent + + + + + + 661412 + Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency + + + Preferential parent + + + + + + 674653 + Actinomyopathy-associated syndromic thrombocytopenia + + + Preferential parent + + + + + + 695140 + Sickle cell-beta zero-thalassemia + + + Preferential parent + + + + + + 695147 + Sickle cell-beta plus-thalassemia + + + Preferential parent + + + + + + 698914 + Platelet-activating anti-platelet factor 4 disorder + + + Preferential parent + + + + + + 698945 + Autoimmune heparin-induced thrombocytopenia + + + Preferential parent + + + + + + 699021 + Spontaneous heparin-induced thrombocytopenia + + + Preferential parent + + + + + + 699029 + Vaccine-induced immune thrombotic thrombocytopenia + + + Preferential parent + + + + + + 699822 + Sickle cell S-Lepore disease + + + Preferential parent + + + + + + 700085 + Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant + + + Preferential parent + + + + + + 700090 + Sickle cell S-O Arab disease + + + Preferential parent + + + + + + 700107 + Sickle cell S-other specified hemoglobin variant + + + Preferential parent + + + + + + 700111 + Homozygous hemoglobin O Arab disease + + + Preferential parent + + + + + + 707789 + Unstable alpha globin chain variant disease + + + Preferential parent + + + + + + 707993 + Methemoglobinemia-related cyanosis + + + Preferential parent + + + + + + 715125 + Hemoglobin E-beta-thalassemia intermedia + + + Preferential parent + + + + + + 715128 + Hemoglobin E-beta-thalassemia major + + + Preferential parent + + + + + + 715135 + Hemoglobin Lepore-beta-thalassemia intermedia + + + Preferential parent + + + + + + 715140 + Hemoglobin Lepore-beta-thalassemia major + + + Preferential parent + + + + + + 715143 + Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene + + + Preferential parent + + + + + + 717585 + Kasabach-Merritt-like phenomenon + + + Preferential parent + + + + + + 717588 + Localized intravascular coagulation + + + Preferential parent + + + + + + 717593 + Disseminated intravascular coagulation associated with a vascular anomaly + + + Preferential parent + + + + + + 98006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98006 + Rare neurologic disease + + + + + 58 + Alexander disease + + + Preferential parent + + + + + + 141 + Canavan disease + + + Preferential parent + + + + + + 95 + Friedreich ataxia + + + Preferential parent + + + + + + 262 + Duchenne and Becker muscular dystrophy + + + Preferential parent + + + + + + 261 + Emery-Dreifuss muscular dystrophy + + + Preferential parent + + + + + + 269 + Facioscapulohumeral dystrophy + + + Preferential parent + + + + + + 550 + MELAS + + + Preferential parent + + + + + + 551 + MERRF + + + Preferential parent + + + + + + 597 + Central core disease + + + Preferential parent + + + + + + 607 + Nemaline myopathy + + + Preferential parent + + + + + + 593 + Myofibrillar myopathy + + + Preferential parent + + + + + + 614 + Thomsen and Becker disease + + + Preferential parent + + + + + + 684 + Paramyotonia congenita of Von Eulenburg + + + Preferential parent + + + + + + 273 + Steinert myotonic dystrophy + + + Preferential parent + + + + + + 72 + Angelman syndrome + + + Preferential parent + + + + + + 778 + Rett syndrome + + + Preferential parent + + + + + + 1941 + Juvenile absence epilepsy + + + Preferential parent + + + + + + 307 + Juvenile myoclonic epilepsy + + + Preferential parent + + + + + + 100 + Ataxia-telangiectasia + + + Preferential parent + + + + + + 803 + Amyotrophic lateral sclerosis + + + Preferential parent + + + + + + 512 + Metachromatic leukodystrophy + + + Preferential parent + + + + + + 501 + Lafora disease + + + Preferential parent + + + + + + 399 + Huntington disease + + + Preferential parent + + + + + + 96 + Ataxia with vitamin E deficiency + + + Preferential parent + + + + + + 101 + Dentatorubral pallidoluysian atrophy + + + Preferential parent + + + + + + 481 + Kennedy disease + + + Preferential parent + + + + + + 644 + NARP syndrome + + + Preferential parent + + + + + + 636 + Neurofibromatosis type 1 + + + Preferential parent + + + + + + 640 + Hereditary neuropathy with liability to pressure palsies + + + Preferential parent + + + + + + 681 + Hypokalemic periodic paralysis + + + Preferential parent + + + + + + 682 + Hyperkalemic periodic paralysis + + + Preferential parent + + + + + + 99 + Autosomal dominant cerebellar ataxia + + + Preferential parent + + + + + + 97 + Familial paroxysmal ataxia + + + Preferential parent + + + + + + 258 + Laminin subunit alpha 2-related congenital muscular dystrophy + + + Preferential parent + + + + + + 308 + Progressive myoclonic epilepsy type 1 + + + Preferential parent + + + + + + 1947 + Northern epilepsy + + + Preferential parent + + + + + + 385 + Neurodegeneration with brain iron accumulation + + + Preferential parent + + + + + + 596 + X-linked centronuclear myopathy + + + Preferential parent + + + + + + 610 + Bethlem muscular dystrophy + + + Preferential parent + + + + + + 773 + Adult Refsum disease + + + Preferential parent + + + + + + 1496 + Corpus callosum agenesis-neuronopathy syndrome + + + Preferential parent + + + + + + 1764 + Familial dysautonomia + + + Preferential parent + + + + + + 255 + Dopa-responsive dystonia + + + Preferential parent + + + + + + 2020 + Congenital fiber-type disproportion myopathy + + + Preferential parent + + + + + + 606 + Proximal myotonic myopathy + + + Preferential parent + + + + + + 2901 + Neuralgic amyotrophy + + + Preferential parent + + + + + + 3173 + Infantile spasms-broad thumbs syndrome + + + Preferential parent + + + + + + 612 + Potassium-aggravated myotonia + + + Preferential parent + + + + + + 1020 + Early-onset autosomal dominant Alzheimer disease + + + Preferential parent + + + + + + 70 + Proximal spinal muscular atrophy + + + Preferential parent + + + + + + 166 + Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy + + + Preferential parent + + + + + + 423 + Malignant hyperthermia of anesthesia + + + Preferential parent + + + + + + 216 + Neuronal ceroid lipofuscinosis + + + Preferential parent + + + + + + 685 + Hereditary spastic paraplegia + + + Preferential parent + + + + + + 702 + Pelizaeus-Merzbacher disease + + + Preferential parent + + + + + + 270 + Oculopharyngeal muscular dystrophy + + + Preferential parent + + + + + + 589 + Myasthenia gravis + + + Preferential parent + + + + + + 62 + Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 + + + Preferential parent + + + + + + 611 + Inclusion body myositis + + + Preferential parent + + + + + + 204 + Sporadic Creutzfeldt-Jakob disease + + + Preferential parent + + + + + + 598 + Multiminicore myopathy + + + Preferential parent + + + + + + 2131 + Alternating hemiplegia of childhood + + + Preferential parent + + + + + + 2406 + Locked-in syndrome + + + Preferential parent + + + + + + 46 + Adenylosuccinate lyase deficiency + + + Preferential parent + + + + + + 356 + Gerstmann-Straussler-Scheinker syndrome + + + Preferential parent + + + + + + 466 + Fatal familial insomnia + + + Preferential parent + + + + + + 98 + Autosomal recessive spastic ataxia of Charlevoix-Saguenay + + + Preferential parent + + + + + + 1177 + Early-onset cerebellar ataxia with retained tendon reflexes + + + Preferential parent + + + + + + 1431 + Paroxysmal dyskinesia + + + Preferential parent + + + + + + 2103 + Guillain-Barré syndrome + + + Preferential parent + + + + + + 683 + Progressive supranuclear palsy + + + Preferential parent + + + + + + 3198 + Stiff person spectrum disorder + + + Preferential parent + + + + + + 267 + Calpain-3-related limb-girdle muscular dystrophy R1 + + + Preferential parent + + + + + + 2932 + Chronic inflammatory demyelinating polyneuropathy + + + Preferential parent + + + + + + 3006 + Pyridoxine-dependent-developmental and epileptic encephalopathy + + + Preferential parent + + + + + + 2806 + Subacute sclerosing leukoencephalitis + + + Preferential parent + + + + + + 2382 + Lennox-Gastaut syndrome + + + Preferential parent + + + + + + 1934 + Early infantile developmental and epileptic encephalopathy + + + Preferential parent + + + + + + 1942 + Epilepsy with myoclonic-atonic seizures + + + Preferential parent + + + + + + 1943 + Early-onset progressive encephalopathy with migrant continuous myoclonus + + + Preferential parent + + + + + + 2828 + Young-onset Parkinson disease + + + Preferential parent + + + + + + 642 + Hereditary sensory and autonomic neuropathy type 4 + + + Preferential parent + + + + + + 643 + Giant axonal neuropathy + + + Preferential parent + + + + + + 1949 + Self-limited neonatal epilepsy + + + Preferential parent + + + + + + 136 + Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy + + + Preferential parent + + + + + + 569 + Familial or sporadic hemiplegic migraine + + + Preferential parent + + + + + + 1878 + TRIM32-related limb-girdle muscular dystrophy R8 + + + Preferential parent + + + + + + 1951 + Epilepsy-telangiectasia syndrome + + + Preferential parent + + + + + + 970 + Hereditary sensory and autonomic neuropathy type 2 + + + Preferential parent + + + + + + 972 + Hereditary continuous muscle fiber activity + + + Preferential parent + + + + + + 51 + Aicardi-Goutières syndrome + + + Preferential parent + + + + + + 59 + Allan-Herndon-Dudley syndrome + + + Preferential parent + + + + + + 1062 + Hereditary neurocutaneous malformation + + + Preferential parent + + + + + + 1168 + Ataxia-oculomotor apraxia type 1 + + + Preferential parent + + + + + + 1170 + Autosomal recessive cerebelloparenchymal disorder type 3 + + + Preferential parent + + + + + + 1175 + X-linked progressive cerebellar ataxia + + + Preferential parent + + + + + + 1178 + Ataxia-tapetoretinal degeneration syndrome + + + Preferential parent + + + + + + 1179 + Benign paroxysmal tonic upgaze of childhood with ataxia + + + Preferential parent + + + + + + 1173 + Cerebellar ataxia-hypogonadism syndrome + + + Preferential parent + + + + + + 1182 + Spastic ataxia with congenital miosis + + + Preferential parent + + + + + + 1186 + Infantile-onset spinocerebellar ataxia + + + Preferential parent + + + + + + 1214 + Progressive hemifacial atrophy + + + Preferential parent + + + + + + 1216 + Autosomal dominant congenital benign spinal muscular atrophy + + + Preferential parent + + + + + + 1229 + Pseudo-TORCH syndrome type 1 + + + Preferential parent + + + + + + 1313 + Infantile choroidocerebral calcification syndrome + + + Preferential parent + + + + + + 1314 + Symmetrical thalamic calcifications + + + Preferential parent + + + + + + 1429 + Benign hereditary chorea + + + Preferential parent + + + + + + 1545 + Crisponi syndrome + + + Preferential parent + + + + + + 1617 + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion + + + Preferential parent + + + + + + 1659 + Dermatoleukodystrophy + + + Preferential parent + + + + + + 1766 + Dysequilibrium syndrome + + + Preferential parent + + + + + + 1799 + Familial developmental dysphasia + + + Preferential parent + + + + + + 1875 + Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome + + + Preferential parent + + + + + + 1980 + Bilateral striopallidodentate calcinosis + + + Preferential parent + + + + + + 2048 + Foix-Chavany-Marie syndrome + + + Preferential parent + + + + + + 2246 + Cerebellar hypoplasia-tapetoretinal degeneration syndrome + + + Preferential parent + + + + + + 2274 + Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome + + + Preferential parent + + + + + + 2285 + Primary basilar invagination + + + Preferential parent + + + + + + 2289 + Neuronal intranuclear inclusion disease + + + Preferential parent + + + + + + 2388 + Choreoacanthocytosis + + + Preferential parent + + + + + + 2400 + Peripheral motor neuropathy-dysautonomia syndrome + + + Preferential parent + + + + + + 559 + Marinesco-Sjögren syndrome + + + Preferential parent + + + + + + 2560 + Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome + + + Preferential parent + + + + + + 2571 + X-linked immunoneurologic disorder + + + Preferential parent + + + + + + 2572 + Spastic ataxia-corneal dystrophy syndrome + + + Preferential parent + + + + + + 2573 + Moyamoya disease + + + Preferential parent + + + + + + 2579 + Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome + + + Preferential parent + + + + + + 2585 + Ataxia-pancytopenia syndrome + + + Preferential parent + + + + + + 2590 + Spinal muscular atrophy-progressive myoclonic epilepsy syndrome + + + Preferential parent + + + + + + 2593 + Tubular aggregate myopathy + + + Preferential parent + + + + + + 2672 + Neuhauser-Eichner-Opitz syndrome + + + Preferential parent + + + + + + 661 + Congenital central hypoventilation syndrome + + + Preferential parent + + + + + + 2798 + Pachygyria-intellectual disability-epilepsy syndrome + + + Preferential parent + + + + + + 2802 + X-linked sideroblastic anemia and spinocerebellar ataxia + + + Preferential parent + + + + + + 2807 + Papilloma of choroid plexus + + + Preferential parent + + + + + + 2809 + Familial recurrent peripheral facial palsy + + + Preferential parent + + + + + + 2815 + Spastic paraparesis-deafness syndrome + + + Preferential parent + + + + + + 2818 + Spastic paraplegia-glaucoma-intellectual disability syndrome + + + Preferential parent + + + + + + 2819 + Spastic paraplegia-facial-cutaneous lesions syndrome + + + Preferential parent + + + + + + 2820 + Spastic paraplegia-nephritis-deafness syndrome + + + Preferential parent + + + + + + 2821 + Spastic paraplegia-neuropathy-poikiloderma syndrome + + + Preferential parent + + + + + + 2822 + Autosomal recessive spastic paraplegia type 11 + + + Preferential parent + + + + + + 2826 + Spastic paraplegia-precocious puberty syndrome + + + Preferential parent + + + + + + 2836 + PEHO syndrome + + + Preferential parent + + + + + + 2926 + Digital extensor muscle aplasia-polyneuropathy + + + Preferential parent + + + + + + 2928 + Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome + + + Preferential parent + + + + + + 3010 + Qazi-Markouizos syndrome + + + Preferential parent + + + + + + 3042 + Intellectual disability-cataracts-calcified pinnae-myopathy syndrome + + + Preferential parent + + + + + + 3101 + Richieri Costa-da Silva syndrome + + + Preferential parent + + + + + + 3115 + Roussy-Lévy syndrome + + + Preferential parent + + + + + + 3175 + X-linked spasticity-intellectual disability-epilepsy syndrome + + + Preferential parent + + + + + + 3197 + Hereditary hyperekplexia + + + Preferential parent + + + + + + 3217 + Deafness-small bowel diverticulosis-neuropathy syndrome + + + Preferential parent + + + + + + 3350 + Tremor-nystagmus-duodenal ulcer syndrome + + + Preferential parent + + + + + + 3465 + Worster-Drought syndrome + + + Preferential parent + + + + + + 2076 + X-linked intellectual disability-epilepsy syndrome + + + Preferential parent + + + + + + 3095 + Atypical Rett syndrome + + + Preferential parent + + + + + + 1217 + Spinal atrophy-ophthalmoplegia-pyramidal syndrome + + + Preferential parent + + + + + + 2680 + Hypomyelination neuropathy-arthrogryposis syndrome + + + Preferential parent + + + + + + 777 + X-linked non-syndromic intellectual disability + + + Preferential parent + + + + + + 1945 + Self-limited epilepsy with centrotemporal spikes + + + Preferential parent + + + + + + 282 + Frontotemporal dementia + + + Preferential parent + + + + + + 2942 + Postpoliomyelitis syndrome + + + Preferential parent + + + + + + 1171 + Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome + + + Preferential parent + + + + + + 599 + Distal myopathy + + + Preferential parent + + + + + + 407 + Glycine encephalopathy + + + Preferential parent + + + + + + 309 + Familial partial epilepsy + + + Preferential parent + + + + + + 2596 + Myopathy and diabetes mellitus + + + Preferential parent + + + + + + 1866 + Focal, segmental or multifocal dystonia + + + Preferential parent + + + + + + 2073 + Narcolepsy type 1 + + + Preferential parent + + + + + + 1576 + Infantile bilateral striatal necrosis + + + Preferential parent + + + + + + 441 + Pure autonomic failure + + + Preferential parent + + + + + + 256 + Early-onset generalized limb-onset dystonia + + + Preferential parent + + + + + + 1320 + Idiopathic camptocormia + + + Preferential parent + + + + + + 306 + Self-limited infantile epilepsy + + + Preferential parent + + + + + + 1544 + Benign focal seizures of adolescence + + + Preferential parent + + + + + + 135 + CACH syndrome + + + Preferential parent + + + + + + 1172 + Autosomal recessive cerebellar ataxia + + + Preferential parent + + + + + + 3280 + Syringomyelia + + + Preferential parent + + + + + + 2478 + Megalencephalic leukoencephalopathy with subcortical cysts + + + Preferential parent + + + + + + 1183 + Opsoclonus-myoclonus syndrome + + + Preferential parent + + + + + + 1929 + Rasmussen subacute encephalitis + + + Preferential parent + + + + + + 3096 + Reye syndrome + + + Preferential parent + + + + + + 592 + Macrophagic myofasciitis + + + Preferential parent + + + + + + 3437 + Vogt-Koyanagi-Harada disease + + + Preferential parent + + + + + + 595 + Centronuclear myopathy + + + Preferential parent + + + + + + 396 + Chronic hiccup + + + Preferential parent + + + + + + 310 + Reflex epilepsy + + + Preferential parent + + + + + + 831 + Congenital cervical spinal stenosis + + + Preferential parent + + + + + + 641 + Multifocal motor neuropathy + + + Preferential parent + + + + + + 119 + Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 + + + Preferential parent + + + + + + 353 + Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 + + + Preferential parent + + + + + + 219 + Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 + + + Preferential parent + + + + + + 268 + Dysferlin-related limb-girdle muscular dystrophy R2 + + + Preferential parent + + + + + + 603 + Distal myopathy, Welander type + + + Preferential parent + + + + + + 602 + GNE myopathy + + + Preferential parent + + + + + + 609 + Tibial muscular dystrophy + + + Preferential parent + + + + + + 600 + Vocal cord and pharyngeal distal myopathy + + + Preferential parent + + + + + + 263 + Limb-girdle muscular dystrophy + + + Preferential parent + + + + + + 725 + Developmental and epileptic encephalopathy with spike-wave activation in sleep + + + Preferential parent + + + + + + 590 + Congenital myasthenic syndrome + + + Preferential parent + + + + + + 102 + Multiple system atrophy + + + Preferential parent + + + + + + 25968 + Self-limited childhood occipital epilepsy + + + Preferential parent + + + + + + 25980 + X-linked myopathy with excessive autophagy + + + Preferential parent + + + + + + 29822 + Spontaneous periodic hypothermia + + + Preferential parent + + + + + + 33069 + Dravet syndrome + + + Preferential parent + + + + + + 33208 + Idiopathic hypersomnia + + + Preferential parent + + + + + + 33445 + Neuroectodermal melanolysosomal disease + + + Preferential parent + + + + + + 33543 + Kleine-Levin syndrome + + + Preferential parent + + + + + + 34514 + Telethonin-related limb-girdle muscular dystrophy R7 + + + Preferential parent + + + + + + 34515 + FKRP-related limb-girdle muscular dystrophy R9 + + + Preferential parent + + + + + + 34516 + DNAJB6-related limb-girdle muscular dystrophy D1 + + + Preferential parent + + + + + + 34520 + Congenital muscular dystrophy with integrin alpha-7 deficiency + + + Preferential parent + + + + + + 35069 + Infantile neuroaxonal dystrophy + + + Preferential parent + + + + + + 35689 + Primary lateral sclerosis + + + Preferential parent + + + + + + 36383 + COL4A1/2-related familial vascular leukoencephalopathy + + + Preferential parent + + + + + + 36386 + Hereditary sensory and autonomic neuropathy type 1 + + + Preferential parent + + + + + + 36387 + Genetic epilepsy with febrile seizure plus + + + Preferential parent + + + + + + 36388 + Paraneoplastic neurologic syndrome + + + Preferential parent + + + + + + 36899 + Myoclonus-dystonia syndrome + + + Preferential parent + + + + + + 37553 + Andersen-Tawil syndrome + + + Preferential parent + + + + + + 37612 + Episodic ataxia type 1 + + + Preferential parent + + + + + + 68354 + Rare sleep disorder + + + Preferential parent + + + + + + 68356 + Leukodystrophy + + + Preferential parent + + + + + + 68363 + Rare dystonia + + + Preferential parent + + + + + + 68381 + Neuromuscular disease + + + Preferential parent + + + + + + 68402 + Rare parkinsonian disorder + + + Preferential parent + + + + + + 43116 + Serotonin syndrome + + + Preferential parent + + + + + + 43393 + Lambert-Eaton myasthenic syndrome + + + Preferential parent + + + + + + 45448 + Miyoshi myopathy + + + Preferential parent + + + + + + 46348 + Paroxysmal extreme pain disorder + + + Preferential parent + + + + + + 48162 + Lewis-Sumner syndrome + + + Preferential parent + + + + + + 48818 + Aceruloplasminemia + + + Preferential parent + + + + + + 48918 + Focal myositis + + + Preferential parent + + + + + + 50812 + Zellweger-like syndrome without peroxisomal anomalies + + + Preferential parent + + + + + + 51188 + Ethylmalonic encephalopathy + + + Preferential parent + + + + + + 51890 + Anterior cutaneous nerve entrapment syndrome + + + Preferential parent + + + + + + 52430 + Inclusion body myopathy with Paget disease of bone and frontotemporal dementia + + + Preferential parent + + + + + + 53347 + Brody myopathy + + + Preferential parent + + + + + + 53351 + X-linked dystonia-parkinsonism + + + Preferential parent + + + + + + 53372 + Hereditary geniospasm + + + Preferential parent + + + + + + 53583 + Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity + + + Preferential parent + + + + + + 53698 + Myosin storage myopathy + + + Preferential parent + + + + + + 53739 + Distal hereditary motor neuropathy + + + Preferential parent + + + + + + 54247 + Posterior cortical atrophy + + + Preferential parent + + + + + + 55595 + TNP03-related limb-girdle muscular dystrophy D2 + + + Preferential parent + + + + + + 55596 + HNRNPDL-related limb-girdle muscular dystrophy D3 + + + Preferential parent + + + + + + 56970 + Human prion disease + + + Preferential parent + + + + + + 57145 + SUNCT syndrome + + + Preferential parent + + + + + + 59135 + Laing distal myopathy + + + Preferential parent + + + + + + 59298 + Schilder disease + + + Preferential parent + + + + + + 59306 + McLeod neuroacanthocytosis syndrome + + + Preferential parent + + + + + + 60039 + Pudendal nerve entrapment syndrome + + + Preferential parent + + + + + + 63273 + FLNC-related handgrip and calf weakness-distal myopathy + + + Preferential parent + + + + + + 64280 + Childhood absence epilepsy + + + Preferential parent + + + + + + 64746 + Autosomal dominant Charcot-Marie-Tooth disease type 2 + + + Preferential parent + + + + + + 64747 + X-linked Charcot-Marie-Tooth disease + + + Preferential parent + + + + + + 64748 + Dejerine-Sottas syndrome + + + Preferential parent + + + + + + 64749 + Charcot-Marie-Tooth disease type 4 + + + Preferential parent + + + + + + 64751 + Hereditary motor and sensory neuropathy type 5 + + + Preferential parent + + + + + + 64752 + Hereditary sensory and autonomic neuropathy type 5 + + + Preferential parent + + + + + + 64753 + Spinocerebellar ataxia with axonal neuropathy type 2 + + + Preferential parent + + + + + + 65284 + Biotin-thiamine-responsive basal ganglia disease + + + Preferential parent + + + + + + 65288 + Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome + + + Preferential parent + + + + + + 65683 + Isolated focal cortical dysplasia + + + Preferential parent + + + + + + 65684 + Monomelic amyotrophy + + + Preferential parent + + + + + + 65753 + Charcot-Marie-Tooth disease type 1 + + + Preferential parent + + + + + + 66624 + PANDAS + + + Preferential parent + + + + + + 69739 + Athabaskan brainstem dysgenesis syndrome + + + Preferential parent + + + + + + 70594 + Dopa-responsive dystonia due to sepiapterin reductase deficiency + + + Preferential parent + + + + + + 70595 + Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome + + + Preferential parent + + + + + + 71211 + Neuromyelitis optica spectrum disorder + + + Preferential parent + + + + + + 71272 + Sandifer syndrome + + + Preferential parent + + + + + + 71277 + Classic glucose transporter type 1 deficiency syndrome + + + Preferential parent + + + + + + 71278 + Congenital brain dysgenesis due to glutamine synthetase deficiency + + + Preferential parent + + + + + + 71279 + CANOMAD syndrome + + + Preferential parent + + + + + + 71281 + Rare central nervous system and retinal vascular disease + + + Preferential parent + + + + + + 71517 + Rapid-onset dystonia-parkinsonism + + + Preferential parent + + + + + + 71518 + Benign paroxysmal torticollis of infancy + + + Preferential parent + + + + + + 71519 + Psychogenic movement disorders + + + Preferential parent + + + + + + 71859 + Rare genetic neurological disorder + + + Preferential parent + + + + + + 71864 + Muscular channelopathy + + + Preferential parent + + + + + + 73229 + HANAC syndrome + + + Preferential parent + + + + + + 73245 + Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome + + + Preferential parent + + + + + + 73267 + Non-24-hour sleep-wake syndrome + + + Preferential parent + + + + + + 75326 + Familial isolated retinal arteriolar tortuosity + + + Preferential parent + + + + + + 75567 + Primary progressive freezing gait + + + Preferential parent + + + + + + 75840 + Ullrich congenital muscular dystrophy + + + Preferential parent + + + + + + 77295 + Odontoleukodystrophy + + + Preferential parent + + + + + + 79091 + Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome + + + Preferential parent + + + + + + 79096 + Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy + + + Preferential parent + + + + + + 79097 + Folinic acid-responsive seizures + + + Preferential parent + + + + + + 79102 + Thyrotoxic periodic paralysis + + + Preferential parent + + + + + + 79135 + Episodic ataxia type 3 + + + Preferential parent + + + + + + 79136 + Episodic ataxia type 4 + + + Preferential parent + + + + + + 79137 + Generalized epilepsy-paroxysmal dyskinesia syndrome + + + Preferential parent + + + + + + 79138 + Bickerstaff brainstem encephalitis + + + Preferential parent + + + + + + 79155 + Hydroxykynureninuria + + + Preferential parent + + + + + + 79156 + Seizures-intellectual disability due to hydroxylysinuria syndrome + + + Preferential parent + + + + + + 79350 + 3-phosphoserine phosphatase deficiency, infantile/juvenile form + + + Preferential parent + + + + + + 79351 + 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form + + + Preferential parent + + + + + + 83330 + Proximal spinal muscular atrophy type 1 + + + Preferential parent + + + + + + 83418 + Proximal spinal muscular atrophy type 2 + + + Preferential parent + + + + + + 83419 + Proximal spinal muscular atrophy type 3 + + + Preferential parent + + + + + + 83420 + Proximal spinal muscular atrophy type 4 + + + Preferential parent + + + + + + 83452 + Complex regional pain syndrome + + + Preferential parent + + + + + + 83465 + Narcolepsy type 2 + + + Preferential parent + + + + + + 83467 + Morvan syndrome + + + Preferential parent + + + + + + 83597 + Acute disseminated encephalomyelitis + + + Preferential parent + + + + + + 83601 + Steroid-responsive encephalopathy associated with autoimmune thyroiditis + + + Preferential parent + + + + + + 83629 + Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome + + + Preferential parent + + + + + + 84093 + Hereditary thermosensitive neuropathy + + + Preferential parent + + + + + + 84132 + Desmin-related myopathy with Mallory body-like inclusions + + + Preferential parent + + + + + + 84142 + Isaacs syndrome + + + Preferential parent + + + + + + 85102 + Perineurioma + + + Preferential parent + + + + + + 85110 + Familial encephalopathy with neuroserpin inclusion bodies + + + Preferential parent + + + + + + 85136 + Cystic leukoencephalopathy without megalencephaly + + + Preferential parent + + + + + + 85146 + Neurogenic scapuloperoneal syndrome, Kaeser type + + + Preferential parent + + + + + + 85162 + Facial onset sensory and motor neuronopathy + + + Preferential parent + + + + + + 85447 + ATTRV30M amyloidosis + + + Preferential parent + + + + + + 85458 + Hereditary cerebral amyloid angiopathy + + + Preferential parent + + + + + + 86812 + POMT1-related limb-girdle muscular dystrophy R11 + + + Preferential parent + + + + + + 86814 + Familial adult myoclonic epilepsy + + + Preferential parent + + + + + + 86906 + Gelastic seizures with hypothalamic hamartoma + + + Preferential parent + + + + + + 86908 + Hemiconvulsion-hemiplegia-epilepsy syndrome + + + Preferential parent + + + + + + 86909 + Myoclonic epilepsy of infancy + + + Preferential parent + + + + + + 86911 + Epilepsy with myoclonic absences + + + Preferential parent + + + + + + 86913 + Myoclonic epilepsy in non-progressive encephalopathies + + + Preferential parent + + + + + + 87277 + Rare intellectual disability + + + Preferential parent + + + + + + 88616 + Autosomal recessive non-syndromic intellectual disability + + + Preferential parent + + + + + + 88618 + S-adenosylhomocysteine hydrolase deficiency + + + Preferential parent + + + + + + 88619 + Familial acute necrotizing encephalopathy + + + Preferential parent + + + + + + 88628 + Posterior column ataxia-retinitis pigmentosa syndrome + + + Preferential parent + + + + + + 88635 + Vacuolar myopathy with sarcoplasmic reticulum protein aggregates + + + Preferential parent + + + + + + 88637 + Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome + + + Preferential parent + + + + + + 88639 + Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency + + + Preferential parent + + + + + + 88642 + Congenital insensitivity to pain-anosmia-neuropathic arthropathy + + + Preferential parent + + + + + + 88644 + Autosomal recessive ataxia, Beauce type + + + Preferential parent + + + + + + 89043 + Rare dementia + + + Preferential parent + + + + + + 90020 + Parkinson-dementia complex of Guam + + + Preferential parent + + + + + + 90021 + Radiation myelitis + + + Preferential parent + + + + + + 90026 + Primary erythromelalgia + + + Preferential parent + + + + + + 90056 + Moderate and severe traumatic brain injury + + + Preferential parent + + + + + + 90058 + Spinal cord injury + + + Preferential parent + + + + + + 90065 + Acquired aneurysmal subarachnoid hemorrhage + + + Preferential parent + + + + + + 90103 + Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome + + + Preferential parent + + + + + + 90114 + Autosomal dominant intermediate Charcot-Marie-Tooth disease + + + Preferential parent + + + + + + 90117 + Hereditary motor and sensory neuropathy, Okinawa type + + + Preferential parent + + + + + + 90118 + Severe early-onset axonal neuropathy due to MFN2 deficiency + + + Preferential parent + + + + + + 90119 + Hereditary motor and sensory neuropathy with acrodystrophy + + + Preferential parent + + + + + + 90120 + Hereditary motor and sensory neuropathy type 6 + + + Preferential parent + + + + + + 90658 + Charcot-Marie-Tooth disease type 1E + + + Preferential parent + + + + + + 91024 + Autosomal recessive axonal hereditary motor and sensory neuropathy + + + Preferential parent + + + + + + 93114 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type E + + + Preferential parent + + + + + + 93256 + Fragile X-associated tremor/ataxia syndrome + + + Preferential parent + + + + + + 93921 + Full schwannomatosis + + + Preferential parent + + + + + + 93958 + Oromandibular dystonia + + + Preferential parent + + + + + + 93964 + Blepharospasm-oromandibular dystonia syndrome + + + Preferential parent + + + + + + 94091 + Mills syndrome + + + Preferential parent + + + + + + 94093 + Neuroleptic malignant syndrome + + + Preferential parent + + + + + + 94122 + Cerebellar ataxia, Cayman type + + + Preferential parent + + + + + + 94124 + Spinocerebellar ataxia with axonal neuropathy type 1 + + + Preferential parent + + + + + + 94125 + Recessive mitochondrial ataxia syndrome + + + Preferential parent + + + + + + 94145 + Autosomal dominant cerebellar ataxia type I + + + Preferential parent + + + + + + 94147 + Spinocerebellar ataxia type 7 + + + Preferential parent + + + + + + 94148 + Autosomal dominant cerebellar ataxia type III + + + Preferential parent + + + + + + 94149 + Autosomal dominant cerebellar ataxia type IV + + + Preferential parent + + + + + + 95432 + Primary progressive aphasia + + + Preferential parent + + + + + + 95433 + Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome + + + Preferential parent + + + + + + 95434 + Autosomal recessive cerebellar ataxia-movement disorder syndrome + + + Preferential parent + + + + + + 97229 + Riboflavin transporter deficiency + + + Preferential parent + + + + + + 97232 + Fingerprint body myopathy + + + Preferential parent + + + + + + 97238 + Rippling muscle disease + + + Preferential parent + + + + + + 97239 + Reducing body myopathy + + + Preferential parent + + + + + + 97240 + Zebra body myopathy + + + Preferential parent + + + + + + 97242 + Congenital muscular dystrophy + + + Preferential parent + + + + + + 97244 + Rigid spine syndrome + + + Preferential parent + + + + + + 97245 + Congenital myopathy + + + Preferential parent + + + + + + 97275 + Encephalitis + + + Preferential parent + + + + + + 97345 + ABri amyloidosis + + + Preferential parent + + + + + + 97346 + ADan amyloidosis + + + Preferential parent + + + + + + 97349 + Postencephalitic parkinsonism + + + Preferential parent + + + + + + 97353 + Dementia pugilistica + + + Preferential parent + + + + + + 97355 + Caribbean parkinsonism + + + Preferential parent + + + + + + 98022 + Rare headache + + + Preferential parent + + + + + + 98033 + Rare neurologic disease with psychiatric involvement + + + Preferential parent + + + + + + 98095 + Autosomal recessive congenital cerebellar ataxia + + + Preferential parent + + + + + + 98096 + Autosomal recessive metabolic cerebellar ataxia + + + Preferential parent + + + + + + 98097 + Autosomal recessive cerebellar ataxia due to a DNA repair defect + + + Preferential parent + + + + + + 98098 + Autosomal recessive degenerative and progressive cerebellar ataxia + + + Preferential parent + + + + + + 98099 + Autosomal recessive syndromic cerebellar ataxia + + + Preferential parent + + + + + + 98203 + Combined dystonia + + + Preferential parent + + + + + + 98255 + Chronic encephalitis + + + Preferential parent + + + + + + 98259 + Childhood-onset epilepsy syndrome + + + Preferential parent + + + + + + 98260 + Adolescent-onset epilepsy syndrome + + + Preferential parent + + + + + + 98261 + Progressive myoclonic epilepsy + + + Preferential parent + + + + + + 98472 + Skeletal muscle disease + + + Preferential parent + + + + + + 98473 + Muscular dystrophy + + + Preferential parent + + + + + + 98482 + Idiopathic inflammatory myopathy + + + Preferential parent + + + + + + 98486 + Metabolic myopathy + + + Preferential parent + + + + + + 98491 + Neuromuscular junction disease + + + Preferential parent + + + + + + 98494 + Acquired neuromuscular junction disease + + + Preferential parent + + + + + + 98495 + Genetic neuromuscular junction disease + + + Preferential parent + + + + + + 98496 + Rare peripheral neuropathy + + + Preferential parent + + + + + + 98497 + Genetic peripheral neuropathy + + + Preferential parent + + + + + + 98503 + Motor neuron disease + + + Preferential parent + + + + + + 98505 + Genetic motor neuron disease + + + Preferential parent + + + + + + 98506 + Acquired motor neuron disease + + + Preferential parent + + + + + + 98534 + Neurodegenerative disease with dementia + + + Preferential parent + + + + + + 98535 + Frontotemporal degeneration with dementia + + + Preferential parent + + + + + + 98538 + Ataxia with dementia + + + Preferential parent + + + + + + 98539 + Early-onset ataxia with dementia + + + Preferential parent + + + + + + 98540 + Late-onset ataxia with dementia + + + Preferential parent + + + + + + 98542 + Infectious disease with dementia + + + Preferential parent + + + + + + 98543 + Metabolic disease with dementia + + + Preferential parent + + + + + + 98544 + Cerebral lipidosis with dementia + + + Preferential parent + + + + + + 98549 + Rare cerebrovascular dementia + + + Preferential parent + + + + + + 98737 + Genetic neurological muscular channelopathy + + + Preferential parent + + + + + + 98738 + Neurological muscular channelopathy due to a genetic sodium channel defect + + + Preferential parent + + + + + + 98739 + Neurological muscular channelopathy due to a genetic chloride channel defect + + + Preferential parent + + + + + + 98740 + Neurological muscular channelopathy due to a genetic calcium channel defect + + + Preferential parent + + + + + + 98741 + Neurological muscular channelopathy due to a genetic potassium channel defect + + + Preferential parent + + + + + + 98742 + Neurological muscular channelopathy due to a genetic ryanodine receptor defect + + + Preferential parent + + + + + + 98743 + Genetic neurological channelopathy of the central nervous system + + + Preferential parent + + + + + + 98744 + Neurological channelopathy of the central nervous system due to a genetic sodium channel defect + + + Preferential parent + + + + + + 98745 + Neurological channelopathy of the central nervous system due to a genetic calcium channel defect + + + Preferential parent + + + + + + 98746 + Neurological channelopathy of the central nervous system due to a genetic potassium channel defect + + + Preferential parent + + + + + + 98747 + Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect + + + Preferential parent + + + + + + 98748 + Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect + + + Preferential parent + + + + + + 98749 + Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect + + + Preferential parent + + + + + + 98750 + Autoimmune neurological channelopathy + + + Preferential parent + + + + + + 98755 + Spinocerebellar ataxia type 1 + + + Preferential parent + + + + + + 98756 + Spinocerebellar ataxia type 2 + + + Preferential parent + + + + + + 98757 + Spinocerebellar ataxia type 3 + + + Preferential parent + + + + + + 98758 + Spinocerebellar ataxia type 6 + + + Preferential parent + + + + + + 98759 + Spinocerebellar ataxia type 17 + + + Preferential parent + + + + + + 98760 + Spinocerebellar ataxia type 8 + + + Preferential parent + + + + + + 98761 + Spinocerebellar ataxia type 10 + + + Preferential parent + + + + + + 98762 + Spinocerebellar ataxia type 12 + + + Preferential parent + + + + + + 98763 + Spinocerebellar ataxia type 14 + + + Preferential parent + + + + + + 98764 + Spinocerebellar ataxia type 27A + + + Preferential parent + + + + + + 98765 + Spinocerebellar ataxia type 4 + + + Preferential parent + + + + + + 98766 + Spinocerebellar ataxia type 5 + + + Preferential parent + + + + + + 98767 + Spinocerebellar ataxia type 11 + + + Preferential parent + + + + + + 98768 + Spinocerebellar ataxia type 13 + + + Preferential parent + + + + + + 98769 + Spinocerebellar ataxia type 15/16 + + + Preferential parent + + + + + + 98771 + Spinocerebellar ataxia type 18 + + + Preferential parent + + + + + + 98772 + Spinocerebellar ataxia type 19/22 + + + Preferential parent + + + + + + 98773 + Spinocerebellar ataxia type 21 + + + Preferential parent + + + + + + 98784 + Sleep-related hypermotor epilepsy + + + Preferential parent + + + + + + 98805 + Primary dystonia, DYT4 type + + + Preferential parent + + + + + + 98806 + Primary dystonia, DYT6 type + + + Preferential parent + + + + + + 98807 + Primary dystonia, DYT13 type + + + Preferential parent + + + + + + 98808 + Autosomal dominant dopa-responsive dystonia + + + Preferential parent + + + + + + 98809 + Paroxysmal kinesigenic dyskinesia + + + Preferential parent + + + + + + 98810 + Paroxysmal non-kinesigenic dyskinesia + + + Preferential parent + + + + + + 98811 + Paroxysmal exertion-induced dyskinesia + + + Preferential parent + + + + + + 98815 + Self-limited epilepsy with autonomic seizures + + + Preferential parent + + + + + + 98816 + Childhood occipital visual epilepsy + + + Preferential parent + + + + + + 98818 + Landau-Kleffner syndrome + + + Preferential parent + + + + + + 98819 + Familial temporal lobe epilepsy + + + Preferential parent + + + + + + 98820 + Familial focal epilepsy with variable foci + + + Preferential parent + + + + + + 98853 + Autosomal dominant Emery-Dreifuss muscular dystrophy + + + Preferential parent + + + + + + 98855 + Autosomal recessive Emery-Dreifuss muscular dystrophy + + + Preferential parent + + + + + + 98856 + Charcot-Marie-Tooth disease type 2B1 + + + Preferential parent + + + + + + 98863 + X-linked Emery-Dreifuss muscular dystrophy + + + Preferential parent + + + + + + 98888 + X-linked complex spastic paraplegia + + + Preferential parent + + + + + + 98893 + Congenital muscular dystrophy type 1B + + + Preferential parent + + + + + + 98895 + Becker muscular dystrophy + + + Preferential parent + + + + + + 98896 + Duchenne muscular dystrophy + + + Preferential parent + + + + + + 98897 + Oculopharyngodistal myopathy + + + Preferential parent + + + + + + 98902 + Amish nemaline myopathy + + + Preferential parent + + + + + + 98904 + Congenital myopathy with excess of thin filaments + + + Preferential parent + + + + + + 98905 + Congenital multicore myopathy with external ophthalmoplegia + + + Preferential parent + + + + + + 98908 + Neutral lipid storage disease with myopathy + + + Preferential parent + + + + + + 98909 + Desminopathy + + + Preferential parent + + + + + + 98910 + Alpha-crystallinopathy + + + Preferential parent + + + + + + 98911 + Distal myotilinopathy + + + Preferential parent + + + + + + 98912 + Late-onset distal myopathy, Markesbery-Griggs type + + + Preferential parent + + + + + + 98913 + Postsynaptic congenital myasthenic syndrome + + + Preferential parent + + + + + + 98914 + Presynaptic congenital myasthenic syndromes + + + Preferential parent + + + + + + 98915 + Synaptic congenital myasthenic syndrome + + + Preferential parent + + + + + + 98916 + Acute inflammatory demyelinating polyradiculoneuropathy + + + Preferential parent + + + + + + 98917 + Acute motor and sensory axonal neuropathy + + + Preferential parent + + + + + + 98918 + Acute motor axonal neuropathy + + + Preferential parent + + + + + + 98919 + Miller Fisher syndrome + + + Preferential parent + + + + + + 98920 + Spinal muscular atrophy with respiratory distress type 1 + + + Preferential parent + + + + + + 98922 + Blake pouch cyst + + + Preferential parent + + + + + + 98933 + Multiple system atrophy, parkinsonian type + + + Preferential parent + + + + + + 98934 + Huntington disease-like 2 + + + Preferential parent + + + + + + 99013 + Spastic paraplegia type 7 + + + Preferential parent + + + + + + 99015 + Spastic paraplegia type 2 + + + Preferential parent + + + + + + 99027 + Adult-onset autosomal dominant leukodystrophy + + + Preferential parent + + + + + + 99657 + Primary dystonia, DYT2 type + + + Preferential parent + + + + + + 99701 + Mesial temporal lobe epilepsy with hippocampal sclerosis + + + Preferential parent + + + + + + 99734 + Myotonia fluctuans + + + Preferential parent + + + + + + 99735 + Myotonia permanens + + + Preferential parent + + + + + + 99736 + Acetazolamide-responsive myotonia + + + Preferential parent + + + + + + 99750 + Atypical progressive supranuclear palsy syndrome + + + Preferential parent + + + + + + 99803 + Haddad syndrome + + + Preferential parent + + + + + + 99807 + PEHO-like syndrome + + + Preferential parent + + + + + + 99846 + Autosomal dominant myoglobinuria + + + Preferential parent + + + + + + 99852 + Ravine syndrome + + + Preferential parent + + + + + + 99853 + Ovarioleukodystrophy + + + Preferential parent + + + + + + 99854 + Cree leukoencephalopathy + + + Preferential parent + + + + + + 99857 + Secondary syringomyelia + + + Preferential parent + + + + + + 99858 + Idiopathic syringomyelia + + + Preferential parent + + + + + + 99936 + Autosomal dominant Charcot-Marie-Tooth disease type 2B + + + Preferential parent + + + + + + 99937 + Autosomal dominant Charcot-Marie-Tooth disease type 2C + + + Preferential parent + + + + + + 99938 + Autosomal dominant Charcot-Marie-Tooth disease type 2D + + + Preferential parent + + + + + + 99939 + Autosomal dominant Charcot-Marie-Tooth disease type 2E + + + Preferential parent + + + + + + 99940 + Autosomal dominant Charcot-Marie-Tooth disease type 2F + + + Preferential parent + + + + + + 99942 + Autosomal dominant Charcot-Marie-Tooth disease type 2I + + + Preferential parent + + + + + + 99943 + Autosomal dominant Charcot-Marie-Tooth disease type 2J + + + Preferential parent + + + + + + 99944 + Autosomal dominant Charcot-Marie-Tooth disease type 2K + + + Preferential parent + + + + + + 99945 + Autosomal dominant Charcot-Marie-Tooth disease type 2L + + + Preferential parent + + + + + + 99946 + Autosomal dominant Charcot-Marie-Tooth disease type 2A1 + + + Preferential parent + + + + + + 99947 + Autosomal dominant Charcot-Marie-Tooth disease type 2A2 + + + Preferential parent + + + + + + 99948 + Charcot-Marie-Tooth disease type 4A + + + Preferential parent + + + + + + 99949 + Charcot-Marie-Tooth disease type 4C + + + Preferential parent + + + + + + 99950 + Charcot-Marie-Tooth disease type 4D + + + Preferential parent + + + + + + 99951 + Charcot-Marie-Tooth disease type 4E + + + Preferential parent + + + + + + 99952 + Charcot-Marie-Tooth disease type 4F + + + Preferential parent + + + + + + 99953 + Charcot-Marie-Tooth disease type 4G + + + Preferential parent + + + + + + 99954 + Charcot-Marie-Tooth disease type 4H + + + Preferential parent + + + + + + 99955 + Charcot-Marie-Tooth disease type 4B1 + + + Preferential parent + + + + + + 99956 + Charcot-Marie-Tooth disease type 4B2 + + + Preferential parent + + + + + + 99965 + O'Sullivan-McLeod syndrome + + + Preferential parent + + + + + + 99994 + Complex regional pain syndrome type 2 + + + Preferential parent + + + + + + 99995 + Complex regional pain syndrome type 1 + + + Preferential parent + + + + + + 100000 + Reticular perineurioma + + + Preferential parent + + + + + + 100001 + Sclerosing perineurioma + + + Preferential parent + + + + + + 100002 + Extraneural perineurioma + + + Preferential parent + + + + + + 100003 + Intraneural perineurioma + + + Preferential parent + + + + + + 100006 + ABeta amyloidosis, Dutch type + + + Preferential parent + + + + + + 100008 + ACys amyloidosis + + + Preferential parent + + + + + + 100043 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type A + + + Preferential parent + + + + + + 100044 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type B + + + Preferential parent + + + + + + 100045 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type C + + + Preferential parent + + + + + + 100046 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type D + + + Preferential parent + + + + + + 100069 + Semantic dementia + + + Preferential parent + + + + + + 100070 + Progressive non-fluent aphasia + + + Preferential parent + + + + + + 100974 + FRAXF syndrome + + + Preferential parent + + + + + + 100979 + Autosomal dominant complex spastic paraplegia + + + Preferential parent + + + + + + 100980 + Autosomal dominant pure spastic paraplegia + + + Preferential parent + + + + + + 100981 + Autosomal recessive complex spastic paraplegia + + + Preferential parent + + + + + + 100982 + Autosomal recessive pure spastic paraplegia + + + Preferential parent + + + + + + 100984 + Autosomal dominant spastic paraplegia type 3 + + + Preferential parent + + + + + + 100985 + Autosomal dominant spastic paraplegia type 4 + + + Preferential parent + + + + + + 100986 + Autosomal recessive spastic paraplegia type 5A + + + Preferential parent + + + + + + 100988 + Autosomal dominant spastic paraplegia type 6 + + + Preferential parent + + + + + + 100989 + Autosomal dominant spastic paraplegia type 8 + + + Preferential parent + + + + + + 100991 + Autosomal dominant spastic paraplegia type 10 + + + Preferential parent + + + + + + 100993 + Autosomal dominant spastic paraplegia type 12 + + + Preferential parent + + + + + + 100994 + Autosomal dominant spastic paraplegia type 13 + + + Preferential parent + + + + + + 100995 + Autosomal recessive spastic paraplegia type 14 + + + Preferential parent + + + + + + 100996 + Kjellin syndrome + + + Preferential parent + + + + + + 100997 + X-linked spastic paraplegia type 16 + + + Preferential parent + + + + + + 100998 + Autosomal dominant spastic paraplegia type 17 + + + Preferential parent + + + + + + 100999 + Autosomal dominant spastic paraplegia type 19 + + + Preferential parent + + + + + + 101000 + Autosomal recessive spastic paraplegia type 20 + + + Preferential parent + + + + + + 101001 + Autosomal recessive spastic paraplegia type 21 + + + Preferential parent + + + + + + 101003 + Autosomal recessive spastic paraplegia type 23 + + + Preferential parent + + + + + + 101004 + Autosomal recessive spastic paraplegia type 24 + + + Preferential parent + + + + + + 101005 + Autosomal recessive spastic paraplegia type 25 + + + Preferential parent + + + + + + 101006 + Autosomal recessive spastic paraplegia type 26 + + + Preferential parent + + + + + + 101007 + Autosomal recessive spastic paraplegia type 27 + + + Preferential parent + + + + + + 101008 + Autosomal recessive spastic paraplegia type 28 + + + Preferential parent + + + + + + 101009 + Autosomal dominant spastic paraplegia type 29 + + + Preferential parent + + + + + + 101010 + Autosomal spastic paraplegia type 30 + + + Preferential parent + + + + + + 101011 + Autosomal dominant spastic paraplegia type 31 + + + Preferential parent + + + + + + 101046 + Epilepsy with auditory features + + + Preferential parent + + + + + + 101075 + X-linked Charcot-Marie-Tooth disease type 1 + + + Preferential parent + + + + + + 101076 + X-linked Charcot-Marie-Tooth disease type 2 + + + Preferential parent + + + + + + 101077 + X-linked Charcot-Marie-Tooth disease type 3 + + + Preferential parent + + + + + + 101078 + X-linked Charcot-Marie-Tooth disease type 4 + + + Preferential parent + + + + + + 101081 + Charcot-Marie-Tooth disease type 1A + + + Preferential parent + + + + + + 101082 + Charcot-Marie-Tooth disease type 1B + + + Preferential parent + + + + + + 101083 + Charcot-Marie-Tooth disease type 1C + + + Preferential parent + + + + + + 101084 + Charcot-Marie-Tooth disease type 1D + + + Preferential parent + + + + + + 101085 + Charcot-Marie-Tooth disease type 1F + + + Preferential parent + + + + + + 101097 + Autosomal recessive Charcot-Marie-Tooth disease with hoarseness + + + Preferential parent + + + + + + 101101 + Charcot-Marie-Tooth disease type 2B2 + + + Preferential parent + + + + + + 101102 + Charcot-Marie-Tooth disease type 2H + + + Preferential parent + + + + + + 101108 + Spinocerebellar ataxia type 23 + + + Preferential parent + + + + + + 101109 + Spinocerebellar ataxia type 28 + + + Preferential parent + + + + + + 101110 + Spinocerebellar ataxia type 20 + + + Preferential parent + + + + + + 101111 + Spinocerebellar ataxia type 25 + + + Preferential parent + + + + + + 101112 + Spinocerebellar ataxia type 26 + + + Preferential parent + + + + + + 101150 + Autosomal recessive dopa-responsive dystonia + + + Preferential parent + + + + + + 101685 + Rare non-syndromic intellectual disability + + + Preferential parent + + + + + + 101998 + Rare epilepsy + + + Preferential parent + + + + + + 102000 + Medullar disease + + + Preferential parent + + + + + + 102002 + Rare ataxia + + + Preferential parent + + + + + + 102003 + Rare movement disorder + + + Preferential parent + + + + + + 102005 + Brain inflammatory disease + + + Preferential parent + + + + + + 102006 + Neurovascular malformation + + + Preferential parent + + + + + + 102012 + Pure hereditary spastic paraplegia + + + Preferential parent + + + + + + 102013 + Complex hereditary spastic paraplegia + + + Preferential parent + + + + + + 102014 + Autosomal dominant limb-girdle muscular dystrophy + + + Preferential parent + + + + + + 102015 + Autosomal recessive limb-girdle muscular dystrophy + + + Preferential parent + + + + + + 102369 + Rare syndromic intellectual disability + + + Preferential parent + + + + + + 137577 + Neonatal hypoxic and ischemic brain injury + + + Preferential parent + + + + + + 137639 + Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome + + + Preferential parent + + + + + + 137754 + Aminoacylase 1 deficiency + + + Preferential parent + + + + + + 137817 + Arachnoiditis + + + Preferential parent + + + + + + 137867 + Madras motor neuron disease + + + Preferential parent + + + + + + 137929 + Neonatal brainstem dysfunction + + + Preferential parent + + + + + + 139406 + Encephalopathy due to prosaposin deficiency + + + Preferential parent + + + + + + 139417 + Acute transverse myelitis + + + Preferential parent + + + + + + 139423 + Idiopathic acute transverse myelitis + + + Preferential parent + + + + + + 139426 + Perioral myoclonia with absences + + + Preferential parent + + + + + + 139431 + Epilepsy with eyelid myoclonia + + + Preferential parent + + + + + + 139441 + Hypomyelination with atrophy of basal ganglia and cerebellum + + + Preferential parent + + + + + + 139444 + Leukoencephalopathy with bilateral anterior temporal lobe cysts + + + Preferential parent + + + + + + 139447 + Progressive cavitating leukoencephalopathy + + + Preferential parent + + + + + + 139480 + Autosomal recessive spastic paraplegia type 39 + + + Preferential parent + + + + + + 139485 + Autosomal recessive ataxia due to ubiquinone deficiency + + + Preferential parent + + + + + + 139512 + Neuropathy with hearing impairment + + + Preferential parent + + + + + + 139515 + Charcot-Marie-Tooth disease type 4J + + + Preferential parent + + + + + + 139518 + Distal hereditary motor neuropathy type 1 + + + Preferential parent + + + + + + 139525 + Distal hereditary motor neuropathy type 2 + + + Preferential parent + + + + + + 139536 + Distal hereditary motor neuropathy type 5 + + + Preferential parent + + + + + + 139547 + Distal spinal muscular atrophy type 3 + + + Preferential parent + + + + + + 139552 + Distal hereditary motor neuropathy, Jerash type + + + Preferential parent + + + + + + 139557 + X-linked distal spinal muscular atrophy type 3 + + + Preferential parent + + + + + + 139564 + Hereditary sensory and autonomic neuropathy type 1B + + + Preferential parent + + + + + + 139573 + Hereditary sensory and autonomic neuropathy with deafness and global delay + + + Preferential parent + + + + + + 139578 + Mutilating hereditary sensory neuropathy with spastic paraplegia + + + Preferential parent + + + + + + 139583 + X-linked hereditary sensory and autonomic neuropathy with deafness + + + Preferential parent + + + + + + 139589 + Distal hereditary motor neuropathy type 7 + + + Preferential parent + + + + + + 140453 + Autosomal dominant hereditary demyelinating motor and sensory neuropathy + + + Preferential parent + + + + + + 140456 + Autosomal dominant hereditary axonal motor and sensory neuropathy + + + Preferential parent + + + + + + 140459 + Autosomal recessive hereditary demyelinating motor and sensory neuropathy + + + Preferential parent + + + + + + 140465 + Autosomal dominant distal hereditary motor neuropathy + + + Preferential parent + + + + + + 140468 + Autosomal recessive distal hereditary motor neuropathy + + + Preferential parent + + + + + + 140471 + Hereditary sensory and autonomic neuropathy + + + Preferential parent + + + + + + 140474 + Autosomal dominant hereditary sensory and autonomic neuropathy + + + Preferential parent + + + + + + 140477 + Autosomal recessive hereditary sensory and autonomic neuropathy + + + Preferential parent + + + + + + 140481 + Autosomal dominant slowed nerve conduction velocity + + + Preferential parent + + + + + + 140922 + Titin-related limb-girdle muscular dystrophy R10 + + + Preferential parent + + + + + + 140927 + Self-limited neonatal-infantile epilepsy + + + Preferential parent + + + + + + 140989 + Primary angiitis of the central nervous system + + + Preferential parent + + + + + + 156159 + Isolated dystonia + + + Preferential parent + + + + + + 157713 + Congenital or early infantile CACH syndrome + + + Preferential parent + + + + + + 157716 + Late infantile CACH syndrome + + + Preferential parent + + + + + + 157719 + Juvenile or adult CACH syndrome + + + Preferential parent + + + + + + 157820 + Cold-induced sweating syndrome + + + Preferential parent + + + + + + 157823 + Klüver-Bucy syndrome + + + Preferential parent + + + + + + 157835 + Paroxysmal hemicrania + + + Preferential parent + + + + + + 157843 + Trigeminal autonomic cephalalgia + + + Preferential parent + + + + + + 157846 + Neuroferritinopathy + + + Preferential parent + + + + + + 157850 + Pantothenate kinase-associated neurodegeneration + + + Preferential parent + + + + + + 157941 + Huntington disease-like 1 + + + Preferential parent + + + + + + 157946 + Huntington disease-like 3 + + + Preferential parent + + + + + + 157973 + Congenital muscular dystrophy due to LMNA mutation + + + Preferential parent + + + + + + 158124 + Genetic dementia + + + Preferential parent + + + + + + 158266 + Huntington disease-like syndrome + + + Preferential parent + + + + + + 163681 + CNTNAP2-related developmental and epileptic encephalopathy + + + Preferential parent + + + + + + 163684 + Leukoencephalopathy-dystonia-motor neuropathy syndrome + + + Preferential parent + + + + + + 163696 + Action myoclonus-renal failure syndrome + + + Preferential parent + + + + + + 163703 + Febrile infection-related epilepsy syndrome + + + Preferential parent + + + + + + 163708 + Cryptogenic late-onset epileptic spasms + + + Preferential parent + + + + + + 163717 + Familial mesial temporal lobe epilepsy + + + Preferential parent + + + + + + 163727 + Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome + + + Preferential parent + + + + + + 163746 + Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease + + + Preferential parent + + + + + + 163921 + Posttransplant acute limbic encephalitis + + + Preferential parent + + + + + + 164736 + Familial advanced sleep-phase syndrome + + + Preferential parent + + + + + + 166105 + FASTKD2-related infantile mitochondrial encephalomyopathy + + + Preferential parent + + + + + + 166308 + Benign infantile focal epilepsy with midline spikes and waves during sleep + + + Preferential parent + + + + + + 166409 + Photosensitive occipital lobe epilepsy + + + Preferential parent + + + + + + 166412 + Hot water reflex epilepsy + + + Preferential parent + + + + + + 166415 + Audiogenic epilepsy + + + Preferential parent + + + + + + 166418 + Eating reflex epilepsy + + + Preferential parent + + + + + + 166421 + Orgasm-induced epilepsy + + + Preferential parent + + + + + + 166424 + Thinking epilepsy + + + Preferential parent + + + + + + 166427 + Startle epilepsy + + + Preferential parent + + + + + + 166430 + Micturition-induced epilepsy + + + Preferential parent + + + + + + 166433 + Epilepsy with reading-induced seizures + + + Preferential parent + + + + + + 166463 + Epilepsy syndrome + + + Preferential parent + + + + + + 166466 + Neurocutaneous syndrome with epilepsy + + + Preferential parent + + + + + + 166469 + Chromosomal anomaly with epilepsy as a major feature + + + Preferential parent + + + + + + 166472 + Monogenic disease with epilepsy + + + Preferential parent + + + + + + 166475 + Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes + + + Preferential parent + + + + + + 166478 + Cerebral malformation with epilepsy + + + Preferential parent + + + + + + 166481 + Metabolic diseases with epilepsy + + + Preferential parent + + + + + + 166484 + Inflammatory and autoimmune disease with epilepsy + + + Preferential parent + + + + + + 166487 + Cerebral diseases of vascular origin with epilepsy + + + Preferential parent + + + + + + 166490 + Infectious disease with epilepsy + + + Preferential parent + + + + + + 168572 + Native American myopathy + + + Preferential parent + + + + + + 168598 + Methionine adenosyltransferase I/III deficiency + + + Preferential parent + + + + + + 168778 + Rare pervasive developmental disorder + + + Preferential parent + + + + + + 168782 + Childhood disintegrative disorder + + + Preferential parent + + + + + + 169186 + Autosomal recessive centronuclear myopathy + + + Preferential parent + + + + + + 169189 + Autosomal dominant centronuclear myopathy + + + Preferential parent + + + + + + 171430 + Severe congenital nemaline myopathy + + + Preferential parent + + + + + + 171433 + Intermediate nemaline myopathy + + + Preferential parent + + + + + + 171436 + Typical nemaline myopathy + + + Preferential parent + + + + + + 171439 + Childhood-onset nemaline myopathy + + + Preferential parent + + + + + + 171442 + Adult-onset nemaline myopathy + + + Preferential parent + + + + + + 171445 + Muscle filaminopathy + + + Preferential parent + + + + + + 171607 + X-linked spastic paraplegia type 34 + + + Preferential parent + + + + + + 171612 + Autosomal dominant spastic paraplegia type 37 + + + Preferential parent + + + + + + 171617 + Autosomal dominant spastic paraplegia type 38 + + + Preferential parent + + + + + + 171622 + Autosomal recessive spastic paraplegia type 32 + + + Preferential parent + + + + + + 171629 + Autosomal recessive spastic paraplegia type 35 + + + Preferential parent + + + + + + 171690 + Metabolic myopathy due to lactate transporter defect + + + Preferential parent + + + + + + 171695 + Parkinsonian-pyramidal syndrome + + + Preferential parent + + + + + + 171848 + Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome + + + Preferential parent + + + + + + 171863 + Autosomal dominant spastic paraplegia type 42 + + + Preferential parent + + + + + + 171881 + Cap myopathy + + + Preferential parent + + + + + + 171886 + Cylindrical spirals myopathy + + + Preferential parent + + + + + + 171889 + Myopathy with hexagonally cross-linked tubular arrays + + + Preferential parent + + + + + + 172976 + Congenital myopathy with cores + + + Preferential parent + + + + + + 178145 + Moderate multiminicore disease with hand involvement + + + Preferential parent + + + + + + 178148 + Antenatal multiminicore disease with arthrogryposis multiplex congenita + + + Preferential parent + + + + + + 178400 + Distal myopathy with anterior tibial onset + + + Preferential parent + + + + + + 178461 + X-linked myopathy with postural muscle atrophy + + + Preferential parent + + + + + + 178464 + Hereditary myopathy with early respiratory failure + + + Preferential parent + + + + + + 178469 + Autosomal dominant non-syndromic intellectual disability + + + Preferential parent + + + + + + 178506 + Interstitial lung disease-brain calcification syndrome + + + Preferential parent + + + + + + 178509 + Perry syndrome + + + Preferential parent + + + + + + 180772 + Rare disease with autism + + + Preferential parent + + + + + + 182058 + Primary orthostatic hypotension + + + Preferential parent + + + + + + 182064 + Rare neuroinflammatory or neuroimmunological disease + + + Preferential parent + + + + + + 182070 + Rare neurodegenerative disease + + + Preferential parent + + + + + + 182079 + ARX-related epileptic encephalopathy + + + Preferential parent + + + + + + 182083 + Channelopathy with epilepsy + + + Preferential parent + + + + + + 182086 + Acquired peripheral neuropathy + + + Preferential parent + + + + + + 183497 + Genetic neuromuscular disease + + + Preferential parent + + + + + + 183500 + Genetic neurodegenerative disease + + + Preferential parent + + + + + + 183503 + Genetic central nervous system and retinal vascular disease + + + Preferential parent + + + + + + 183509 + Rare genetic headache + + + Preferential parent + + + + + + 183512 + Rare genetic epilepsy + + + Preferential parent + + + + + + 183515 + Rare genetic medullar disease + + + Preferential parent + + + + + + 183518 + Hereditary ataxia + + + Preferential parent + + + + + + 183521 + Rare genetic movement disorder + + + Preferential parent + + + + + + 183757 + Rare genetic intellectual disability + + + Preferential parent + + + + + + 183763 + Rare genetic syndromic intellectual disability + + + Preferential parent + + + + + + 199282 + Harlequin syndrome + + + Preferential parent + + + + + + 199329 + Congenital myopathy, Paradas type + + + Preferential parent + + + + + + 199340 + BAG3-related myofibrillar myopathy + + + Preferential parent + + + + + + 199343 + EAST syndrome + + + Preferential parent + + + + + + 199348 + Thiamine-responsive encephalopathy + + + Preferential parent + + + + + + 199351 + Adult-onset dystonia-parkinsonism + + + Preferential parent + + + + + + 199354 + Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy + + + Preferential parent + + + + + + 199627 + Atypical autism + + + Preferential parent + + + + + + 199642 + Isolated congenital microcephaly + + + Preferential parent + + + + + + 200037 + Paroxysmal dystonia + + + Preferential parent + + + + + + 206546 + Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers + + + Preferential parent + + + + + + 206549 + Anoctamin-5-related limb-girdle muscular dystrophy R12 + + + Preferential parent + + + + + + 206554 + Fukutin-related limb-girdle muscular dystrophy R13 + + + Preferential parent + + + + + + 206559 + POMT2-related limb-girdle muscular dystrophy R14 + + + Preferential parent + + + + + + 206564 + POMGNT1-related limb-girdle muscular dystrophy R15 + + + Preferential parent + + + + + + 206569 + Immune-mediated necrotizing myopathy + + + Preferential parent + + + + + + 206572 + Overlap myositis + + + Preferential parent + + + + + + 206575 + Rippling muscle disease with myasthenia gravis + + + Preferential parent + + + + + + 206580 + Autosomal recessive lower motor neuron disease with childhood onset + + + Preferential parent + + + + + + 206586 + Neurolymphomatosis + + + Preferential parent + + + + + + 206594 + Subacute inflammatory demyelinating polyneuropathy + + + Preferential parent + + + + + + 206599 + Isolated asymptomatic elevation of creatine phosphokinase + + + Preferential parent + + + + + + 206634 + Genetic skeletal muscle disease + + + Preferential parent + + + + + + 206638 + Acquired skeletal muscle disease + + + Preferential parent + + + + + + 206644 + Progressive muscular dystrophy + + + Preferential parent + + + + + + 206647 + Myotonic dystrophy + + + Preferential parent + + + + + + 206650 + Autosomal dominant distal myopathy + + + Preferential parent + + + + + + 206653 + Autosomal recessive distal myopathy + + + Preferential parent + + + + + + 206656 + Non-dystrophic myopathy + + + Preferential parent + + + + + + 206662 + Inclusion myopathy + + + Preferential parent + + + + + + 206701 + Bulbospinal muscular atrophy + + + Preferential parent + + + + + + 206704 + Bulbospinal muscular atrophy of childhood + + + Preferential parent + + + + + + 206707 + Bulbospinal muscular atrophy of adult + + + Preferential parent + + + + + + 206710 + Generalized bulbospinal muscular atrophy + + + Preferential parent + + + + + + 206953 + Muscular lipidosis + + + Preferential parent + + + + + + 206959 + Muscular glycogenosis + + + Preferential parent + + + + + + 206966 + Mitochondrial myopathy + + + Preferential parent + + + + + + 206970 + Myotonic syndrome + + + Preferential parent + + + + + + 206973 + Congenital myotonia + + + Preferential parent + + + + + + 206976 + Periodic paralysis + + + Preferential parent + + + + + + 207012 + Spinal muscular atrophy associated with central nervous system anomaly + + + Preferential parent + + + + + + 207015 + Rare hereditary disease with peripheral neuropathy + + + Preferential parent + + + + + + 207018 + Rare hereditary metabolic disease with peripheral neuropathy + + + Preferential parent + + + + + + 207021 + Rare hereditary systemic disease with peripheral neuropathy + + + Preferential parent + + + + + + 207025 + Rare hereditary neurologic disease with peripheral neuropathy + + + Preferential parent + + + + + + 207028 + Cerebellar ataxia with peripheral neuropathy + + + Preferential parent + + + + + + 207038 + Acute and subacute inflammatory demyelinating polyneuropathy + + + Preferential parent + + + + + + 207049 + Qualitative or quantitative protein defects in neuromuscular diseases + + + Preferential parent + + + + + + 207052 + Qualitative or quantitative defects of sarcoglycan + + + Preferential parent + + + + + + 207060 + Qualitative or quantitative defects of alpha-sarcoglycan + + + Preferential parent + + + + + + 207063 + Qualitative or quantitative defects of beta-sarcoglycan + + + Preferential parent + + + + + + 207067 + Qualitative or quantitative defects of gamma-sarcoglycan + + + Preferential parent + + + + + + 207070 + Qualitative or quantitative defects of delta-sarcoglycan + + + Preferential parent + + + + + + 207073 + Qualitative or quantitative defects of dysferlin + + + Preferential parent + + + + + + 207078 + Qualitative or quantitative defects of caveolin-3 + + + Preferential parent + + + + + + 207085 + Qualitative or quantitative defects of dystrophin + + + Preferential parent + + + + + + 207090 + Qualitative or quantitative defects of collagen 6 + + + Preferential parent + + + + + + 207094 + Laminin subunit alpha 2-related muscular dystrophy + + + Preferential parent + + + + + + 207098 + Qualitative or quantitative defects of integrin alpha-7 + + + Preferential parent + + + + + + 207101 + Qualitative or quantitative defects of perlecan + + + Preferential parent + + + + + + 207104 + Qualitative or quantitative defects of calpain + + + Preferential parent + + + + + + 207107 + Qualitative or quantitative defects of TRIM32 + + + Preferential parent + + + + + + 207110 + Qualitative or quantitative defects of myotubularin + + + Preferential parent + + + + + + 207113 + Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan + + + Preferential parent + + + + + + 207119 + Qualitative or quantitative defects of FKRP + + + Preferential parent + + + + + + 207122 + Qualitative or quantitative defects of fukutin + + + Preferential parent + + + + + + 208508 + Autosomal dominant cerebellar ataxia type II + + + Preferential parent + + + + + + 208513 + Spinocerebellar ataxia type 29 + + + Preferential parent + + + + + + 208974 + Chronic acquired demyelinating polyneuropathy + + + Preferential parent + + + + + + 208978 + Chronic polyradiculoneuropathy + + + Preferential parent + + + + + + 208984 + Acquired sensory ganglionopathy + + + Preferential parent + + + + + + 208989 + Non-paraneoplastic sensory ganglionopathy + + + Preferential parent + + + + + + 208999 + Paraneoplastic sensory ganglionopathy + + + Preferential parent + + + + + + 209004 + Polyneuropathy associated with IgM monoclonal gammopathy + + + Preferential parent + + + + + + 209010 + Peripheral neuropathy associated with monoclonal gammopathy + + + Preferential parent + + + + + + 209013 + Acquired amyloid peripheral neuropathy + + + Preferential parent + + + + + + 209024 + Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase + + + Preferential parent + + + + + + 209027 + Qualitative or quantitative defects of protein glycosyltransferase-like + + + Preferential parent + + + + + + 209030 + Qualitative or quantitative defects of protein O-mannosyltransferase 1 + + + Preferential parent + + + + + + 209033 + Qualitative or quantitative defects of protein O-mannosyltransferase 2 + + + Preferential parent + + + + + + 209038 + Qualitative or quantitative defects of myofibrillar proteins + + + Preferential parent + + + + + + 209041 + Qualitative or quantitative defects of desmin + + + Preferential parent + + + + + + 209044 + Qualitative or quantitative defects of alphaB-cristallin + + + Preferential parent + + + + + + 209047 + Qualitative or quantitative defects of filamin C + + + Preferential parent + + + + + + 209050 + Qualitative or quantitative defects of protein ZASP + + + Preferential parent + + + + + + 209053 + Qualitative or quantitative defects of titin + + + Preferential parent + + + + + + 209056 + Qualitative or quantitative defects of telethonin + + + Preferential parent + + + + + + 209059 + Qualitative or quantitative defects of alpha-actin + + + Preferential parent + + + + + + 209182 + Qualitative or quantitative defects of nebulin + + + Preferential parent + + + + + + 209185 + Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) + + + Preferential parent + + + + + + 209188 + Qualitative or quantitative defects of emerin + + + Preferential parent + + + + + + 209193 + Qualitative or quantitative defects of selenoprotein N1 + + + Preferential parent + + + + + + 209196 + Qualitative or quantitative defects of plectin + + + Preferential parent + + + + + + 209199 + Qualitative or quantitative defects of protein SERCA1 + + + Preferential parent + + + + + + 209203 + Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - + + + Preferential parent + + + + + + 209224 + Myotilinopathy + + + Preferential parent + + + + + + 209335 + Autosomal dominant adult-onset proximal spinal muscular atrophy + + + Preferential parent + + + + + + 209341 + DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy + + + Preferential parent + + + + + + 209370 + MECP2-related severe neonatal encephalopathy + + + Preferential parent + + + + + + 209908 + Isolated childhood apraxia of speech + + + Preferential parent + + + + + + 209951 + Autosomal spastic paraplegia type 18 + + + Preferential parent + + + + + + 209967 + Episodic ataxia type 6 + + + Preferential parent + + + + + + 209970 + Episodic ataxia type 7 + + + Preferential parent + + + + + + 209973 + Benign nocturnal alternating hemiplegia of childhood + + + Preferential parent + + + + + + 209978 + Alternating hemiplegia + + + Preferential parent + + + + + + 210128 + Urocanic aciduria + + + Preferential parent + + + + + + 210141 + Inherited congenital spastic tetraplegia + + + Preferential parent + + + + + + 210163 + Congenital lethal myopathy, Compton-North type + + + Preferential parent + + + + + + 210571 + Dystonia 16 + + + Preferential parent + + + + + + 211017 + Spinocerebellar ataxia type 30 + + + Preferential parent + + + + + + 211037 + Autosomal dominant proximal spinal muscular atrophy + + + Preferential parent + + + + + + 211047 + Specific learning disability + + + Preferential parent + + + + + + 211053 + Specific language disorder + + + Preferential parent + + + + + + 211062 + Hereditary episodic ataxia + + + Preferential parent + + + + + + 211067 + Episodic ataxia type 5 + + + Preferential parent + + + + + + 216866 + Classic pantothenate kinase-associated neurodegeneration + + + Preferential parent + + + + + + 216873 + Atypical pantothenate kinase-associated neurodegeneration + + + Preferential parent + + + + + + 217012 + Spinocerebellar ataxia type 31 + + + Preferential parent + + + + + + 217055 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type A + + + Preferential parent + + + + + + 217253 + NMDA receptor encephalitis + + + Preferential parent + + + + + + 217382 + Neurodegenerative syndrome due to cerebral folate transport deficiency + + + Preferential parent + + + + + + 217396 + Progressive polyneuropathy with bilateral striatal necrosis + + + Preferential parent + + + + + + 217399 + Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation + + + Preferential parent + + + + + + 221074 + Marchiafava-Bignami disease + + + Preferential parent + + + + + + 221078 + Combined hyperactive dysfunction syndrome of the cranial nerves + + + Preferential parent + + + + + + 221083 + Hemifacial spasm + + + Preferential parent + + + + + + 221091 + Trigeminal neuralgia + + + Preferential parent + + + + + + 221098 + Glossopharyngeal neuralgia + + + Preferential parent + + + + + + 221109 + Cranial neuralgia + + + Preferential parent + + + + + + 221114 + Acquired peripheral movement disorder + + + Preferential parent + + + + + + 221117 + Gerstmann syndrome + + + Preferential parent + + + + + + 225681 + Lysosomal disease with epilepsy + + + Preferential parent + + + + + + 225686 + Peroxisomal disease with epilepsy + + + Preferential parent + + + + + + 225689 + Amino acid or protein metabolism disease with epilepsy + + + Preferential parent + + + + + + 225692 + Metal transport or utilization disorder with epilepsy + + + Preferential parent + + + + + + 225696 + Energy metabolism disorder with epilepsy + + + Preferential parent + + + + + + 225700 + Mitochondrial disease with epilepsy + + + Preferential parent + + + + + + 225703 + Mitochondrial disease with peripheral neuropathy + + + Preferential parent + + + + + + 225707 + Metabolic neurotransmission anomaly with epilepsy + + + Preferential parent + + + + + + 225710 + Sterol metabolism disorder with epilepsy + + + Preferential parent + + + + + + 225713 + Other metabolic disease with epilepsy + + + Preferential parent + + + + + + 227510 + Multiple system atrophy, cerebellar type + + + Preferential parent + + + + + + 228145 + Multiple sclerosis variant + + + Preferential parent + + + + + + 228157 + Marburg acute multiple sclerosis + + + Preferential parent + + + + + + 228165 + Baló concentric sclerosis + + + Preferential parent + + + + + + 228169 + Autosomal dominant striatal neurodegeneration + + + Preferential parent + + + + + + 228174 + Autosomal dominant Charcot-Marie-Tooth disease type 2N + + + Preferential parent + + + + + + 228179 + Autosomal dominant Charcot-Marie-Tooth disease type 2M + + + Preferential parent + + + + + + 228329 + CLN1 disease + + + Preferential parent + + + + + + 228337 + CLN10 disease + + + Preferential parent + + + + + + 228343 + CLN4 disease + + + Preferential parent + + + + + + 228346 + CLN3 disease + + + Preferential parent + + + + + + 228349 + CLN2 disease + + + Preferential parent + + + + + + 228354 + CLN8 disease + + + Preferential parent + + + + + + 228360 + CLN5 disease + + + Preferential parent + + + + + + 228363 + CLN6 disease + + + Preferential parent + + + + + + 228366 + CLN7 disease + + + Preferential parent + + + + + + 228374 + Charcot-Marie-Tooth disease type 2B5 + + + Preferential parent + + + + + + 231013 + Congenital trigeminal anesthesia + + + Preferential parent + + + + + + 231160 + Familial cerebral saccular aneurysm + + + Preferential parent + + + + + + 231413 + Variant of Guillain-Barré syndrome + + + Preferential parent + + + + + + 231416 + Regional variant of Guillain-Barré syndrome + + + Preferential parent + + + + + + 231419 + Functional variant of Guillain-Barré syndrome + + + Preferential parent + + + + + + 231426 + Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome + + + Preferential parent + + + + + + 231445 + Paraparetic variant of Guillain-Barré syndrome + + + Preferential parent + + + + + + 231450 + Acute pure sensory neuropathy + + + Preferential parent + + + + + + 231457 + Acute pandysautonomia + + + Preferential parent + + + + + + 231466 + Acute sensory ataxic neuropathy + + + Preferential parent + + + + + + 238329 + Severe X-linked mitochondrial encephalomyopathy + + + Preferential parent + + + + + + 238455 + Infantile dystonia-parkinsonism + + + Preferential parent + + + + + + 238606 + Primary orthostatic tremor + + + Preferential parent + + + + + + 238624 + Idiopathic intracranial hypertension + + + Preferential parent + + + + + + 238722 + Familial congenital mirror movements + + + Preferential parent + + + + + + 240071 + Classic progressive supranuclear palsy syndrome + + + Preferential parent + + + + + + 240085 + Progressive supranuclear palsy-predominant parkinsonism syndrome + + + Preferential parent + + + + + + 240094 + Progressive supranuclear palsy-pure akinesia with gait freezing syndrome + + + Preferential parent + + + + + + 240103 + Progressive supranuclear palsy-corticobasal syndrome + + + Preferential parent + + + + + + 240112 + Progressive supranuclear palsy-progressive non-fluent aphasia syndrome + + + Preferential parent + + + + + + 247198 + Progressive cerebello-cerebral atrophy + + + Preferential parent + + + + + + 247234 + Sporadic adult-onset ataxia of unknown etiology + + + Preferential parent + + + + + + 247239 + Non-hereditary degenerative ataxia + + + Preferential parent + + + + + + 247242 + Acquired ataxia + + + Preferential parent + + + + + + 247245 + Superficial siderosis + + + Preferential parent + + + + + + 247604 + Juvenile primary lateral sclerosis + + + Preferential parent + + + + + + 247691 + Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations + + + Preferential parent + + + + + + 247718 + Inflammatory myopathy with abundant macrophages + + + Preferential parent + + + + + + 247724 + Idiopathic eosinophilic myositis + + + Preferential parent + + + + + + 247765 + X-linked cerebellar ataxia + + + Preferential parent + + + + + + 247815 + Autosomal recessive ataxia due to PEX10 deficiency + + + Preferential parent + + + + + + 248111 + Juvenile Huntington disease + + + Preferential parent + + + + + + 250831 + Logopenic progressive aphasia + + + Preferential parent + + + + + + 250977 + AICA-ribosiduria + + + Preferential parent + + + + + + 251282 + Autosomal dominant spastic ataxia type 1 + + + Preferential parent + + + + + + 251347 + Ataxia-telangiectasia-like disorder + + + Preferential parent + + + + + + 252190 + Inherited nervous system cancer-predisposing syndrome + + + Preferential parent + + + + + + 252202 + Constitutional mismatch repair deficiency syndrome + + + Preferential parent + + + + + + 252206 + Melanoma and neural system tumor syndrome + + + Preferential parent + + + + + + 254334 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type B + + + Preferential parent + + + + + + 254343 + Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome + + + Preferential parent + + + + + + 254361 + Plectin-related limb-girdle muscular dystrophy R17 + + + Preferential parent + + + + + + 254818 + Ataxia neuropathy spectrum + + + Preferential parent + + + + + + 261144 + FOXG1 syndrome due to 14q12 microdeletion + + + Preferential parent + + + + + + 263440 + Neuroacanthocytosis + + + Preferential parent + + + + + + 263516 + Progressive myoclonic epilepsy type 3 + + + Preferential parent + + + + + + 263662 + Familial multiple meningioma + + + Preferential parent + + + + + + 268129 + Spheroid body myopathy + + + Preferential parent + + + + + + 268337 + Autosomal recessive intermediate Charcot-Marie-Tooth disease + + + Preferential parent + + + + + + 268961 + Isolated focal cortical dysplasia type I + + + Preferential parent + + + + + + 268973 + Isolated focal cortical dysplasia type Ia + + + Preferential parent + + + + + + 268980 + Isolated focal cortical dysplasia type Ib + + + Preferential parent + + + + + + 268987 + Isolated focal cortical dysplasia type Ic + + + Preferential parent + + + + + + 268994 + Isolated focal cortical dysplasia type II + + + Preferential parent + + + + + + 269001 + Isolated focal cortical dysplasia type IIa + + + Preferential parent + + + + + + 269008 + Isolated focal cortical dysplasia type IIb + + + Preferential parent + + + + + + 275864 + Behavioral variant of frontotemporal dementia + + + Preferential parent + + + + + + 275872 + Frontotemporal dementia with motor neuron disease + + + Preferential parent + + + + + + 276058 + Genetic neurodegenerative disease with dementia + + + Preferential parent + + + + + + 276061 + Genetic frontotemporal degeneration with dementia + + + Preferential parent + + + + + + 276174 + Idiopathic recurrent stupor + + + Preferential parent + + + + + + 276183 + Spinocerebellar ataxia type 32 + + + Preferential parent + + + + + + 276193 + Spinocerebellar ataxia type 35 + + + Preferential parent + + + + + + 276198 + Spinocerebellar ataxia type 36 + + + Preferential parent + + + + + + 276238 + Machado-Joseph disease type 1 + + + Preferential parent + + + + + + 276241 + Machado-Joseph disease type 2 + + + Preferential parent + + + + + + 276244 + Machado-Joseph disease type 3 + + + Preferential parent + + + + + + 276429 + Hypnic headache + + + Preferential parent + + + + + + 276435 + Lower motor neuron syndrome with late-adult onset + + + Preferential parent + + + + + + 280210 + Pelizaeus-Merzbacher disease, connatal form + + + Preferential parent + + + + + + 280219 + Pelizaeus-Merzbacher disease, classic form + + + Preferential parent + + + + + + 280224 + Pelizaeus-Merzbacher disease, transitional form + + + Preferential parent + + + + + + 280229 + Pelizaeus-Merzbacher disease in female carriers + + + Preferential parent + + + + + + 280234 + Null syndrome + + + Preferential parent + + + + + + 280282 + Pelizaeus-Merzbacher-like disease due to GJC2 mutation + + + Preferential parent + + + + + + 280288 + Pelizaeus-Merzbacher-like disease due to HSPD1 mutation + + + Preferential parent + + + + + + 280293 + Pelizaeus-Merzbacher-like disease due to AIMP1 mutation + + + Preferential parent + + + + + + 280333 + Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 + + + Preferential parent + + + + + + 280397 + Familial Alzheimer-like prion disease + + + Preferential parent + + + + + + 280400 + Inherited human prion disease + + + Preferential parent + + + + + + 280553 + Fatal infantile hypertonic myofibrillar myopathy + + + Preferential parent + + + + + + 280598 + Hereditary sensorimotor neuropathy with hyperelastic skin + + + Preferential parent + + + + + + 280620 + Progressive myoclonic epilepsy type 6 + + + Preferential parent + + + + + + 280671 + Megaconial congenital muscular dystrophy + + + Preferential parent + + + + + + 282166 + Inherited Creutzfeldt-Jakob disease + + + Preferential parent + + + + + + 284232 + Autosomal dominant Charcot-Marie-Tooth disease type 2O + + + Preferential parent + + + + + + 284271 + Autosomal recessive cerebellar ataxia-psychomotor delay syndrome + + + Preferential parent + + + + + + 284282 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency + + + Preferential parent + + + + + + 284289 + Adult-onset autosomal recessive cerebellar ataxia + + + Preferential parent + + + + + + 284324 + Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia + + + Preferential parent + + + + + + 284332 + Infantile-onset autosomal recessive nonprogressive cerebellar ataxia + + + Preferential parent + + + + + + 284388 + Reversible cerebral vasoconstriction syndrome + + + Preferential parent + + + + + + 284417 + Phosphoserine aminotransferase deficiency, infantile/juvenile form + + + Preferential parent + + + + + + 284448 + CLIPPERS + + + Preferential parent + + + + + + 284786 + Qualitative or quantitative defects of troponin + + + Preferential parent + + + + + + 284790 + Qualitative or quantitative defects of tropomyosin + + + Preferential parent + + + + + + 289290 + Hypermethioninemia encephalopathy due to adenosine kinase deficiency + + + Preferential parent + + + + + + 289377 + Early-onset myopathy with fatal cardiomyopathy + + + Preferential parent + + + + + + 289380 + Myosclerosis + + + Preferential parent + + + + + + 289494 + 4H leukodystrophy + + + Preferential parent + + + + + + 289560 + Mitochondrial membrane protein-associated neurodegeneration + + + Preferential parent + + + + + + 289573 + Multiple mitochondrial dysfunctions syndrome + + + Preferential parent + + + + + + 289857 + Neonatal glycine encephalopathy + + + Preferential parent + + + + + + 289860 + Infantile glycine encephalopathy + + + Preferential parent + + + + + + 289863 + Atypical glycine encephalopathy + + + Preferential parent + + + + + + 293168 + Infantile-onset ascending hereditary spastic paralysis + + + Preferential parent + + + + + + 293181 + Epilepsy of infancy with migrating focal seizures + + + Preferential parent + + + + + + 300319 + Charcot-Marie-Tooth disease type 2P + + + Preferential parent + + + + + + 300605 + Juvenile amyotrophic lateral sclerosis + + + Preferential parent + + + + + + 300755 + Laminopathy with striated muscle involvement + + + Preferential parent + + + + + + 300758 + Laminopathy with peripheral neuropathy + + + Preferential parent + + + + + + 306511 + Autosomal recessive spastic paraplegia type 48 + + + Preferential parent + + + + + + 306547 + Porencephaly-microcephaly-bilateral congenital cataract syndrome + + + Preferential parent + + + + + + 306577 + Hereditary sodium channelopathy-related small fibers neuropathy + + + Preferential parent + + + + + + 306666 + Rare parkinsonian syndrome due to neurodegenerative disease + + + Preferential parent + + + + + + 306669 + Hemiparkinsonism-hemiatrophy syndrome + + + Preferential parent + + + + + + 306674 + Kufor-Rakeb syndrome + + + Preferential parent + + + + + + 306679 + Rare parkinsonian syndrome due to intoxication + + + Preferential parent + + + + + + 306682 + Manganese poisoning + + + Preferential parent + + + + + + 306686 + Delayed encephalopathy due to carbon monoxide poisoning + + + Preferential parent + + + + + + 306692 + Cyanide-induced parkinsonism-dystonia + + + Preferential parent + + + + + + 306695 + Miscellaneous movement disorder due to neurodegenerative disease + + + Preferential parent + + + + + + 306708 + Frontotemporal neurodegeneration with movement disorder + + + Preferential parent + + + + + + 306712 + Rare tremor disorder + + + Preferential parent + + + + + + 306715 + Rare choreic movement disorder + + + Preferential parent + + + + + + 306719 + Neurodegenerative disease with chorea + + + Preferential parent + + + + + + 306727 + Postinfectious autoimmune disease with chorea + + + Preferential parent + + + + + + 306731 + Sydenham chorea + + + Preferential parent + + + + + + 306734 + Primary dystonia, DYT21 type + + + Preferential parent + + + + + + 306741 + Hemidystonia-hemiatrophy syndrome + + + Preferential parent + + + + + + 306747 + Rare myoclonus + + + Preferential parent + + + + + + 306750 + Primary myoclonus + + + Preferential parent + + + + + + 306753 + Rare disease with myoclonus as a major feature + + + Preferential parent + + + + + + 306756 + Epilepsy and/or ataxia with myoclonus as a major feature + + + Preferential parent + + + + + + 306759 + Non progressive epilepsy and/or ataxia with myoclonus as a major feature + + + Preferential parent + + + + + + 306765 + Motor stereotypies + + + Preferential parent + + + + + + 306768 + Rare paroxysmal movement disorder + + + Preferential parent + + + + + + 306773 + Hyperekplexia + + + Preferential parent + + + + + + 306776 + Sporadic hyperekplexia + + + Preferential parent + + + + + + 307052 + Rare genetic parkinsonian disorder + + + Preferential parent + + + + + + 307055 + Rare parkinsonian syndrome due to genetic neurodegenerative disease + + + Preferential parent + + + + + + 307058 + Miscellaneous movement disorder due to genetic neurodegenerative disease + + + Preferential parent + + + + + + 307061 + Rare genetic tremor disorder + + + Preferential parent + + + + + + 307064 + Rare genetic myoclonus + + + Preferential parent + + + + + + 307067 + Rare genetic disease with myoclonus as a major feature + + + Preferential parent + + + + + + 309256 + Metachromatic leukodystrophy, late infantile form + + + Preferential parent + + + + + + 309263 + Metachromatic leukodystrophy, juvenile form + + + Preferential parent + + + + + + 309271 + Metachromatic leukodystrophy, adult form + + + Preferential parent + + + + + + 313772 + Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome + + + Preferential parent + + + + + + 313808 + Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia + + + Preferential parent + + + + + + 313838 + Coats plus syndrome + + + Preferential parent + + + + + + 313850 + Infantile cerebellar-retinal degeneration + + + Preferential parent + + + + + + 314051 + Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome + + + Preferential parent + + + + + + 314381 + Hereditary sensory and autonomic neuropathy type 6 + + + Preferential parent + + + + + + 314389 + Xq12-q13.3 duplication syndrome + + + Preferential parent + + + + + + 314404 + Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome + + + Preferential parent + + + + + + 314485 + Young adult-onset distal hereditary motor neuropathy + + + Preferential parent + + + + + + 314566 + Primary progressive apraxia of speech + + + Preferential parent + + + + + + 314572 + Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome + + + Preferential parent + + + + + + 314603 + Autosomal recessive spastic ataxia with leukoencephalopathy + + + Preferential parent + + + + + + 314629 + CLN11 disease + + + Preferential parent + + + + + + 314632 + CLN12 disease + + + Preferential parent + + + + + + 314647 + Non-progressive cerebellar ataxia with intellectual disability + + + Preferential parent + + + + + + 314655 + Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion + + + Preferential parent + + + + + + 314911 + Severe Canavan disease + + + Preferential parent + + + + + + 314918 + Mild Canavan disease + + + Preferential parent + + + + + + 314978 + X-linked non progressive cerebellar ataxia + + + Preferential parent + + + + + + 314993 + Cataract-congenital heart disease-neural tube defect syndrome + + + Preferential parent + + + + + + 316226 + Spastic ataxia + + + Preferential parent + + + + + + 316235 + Autosomal dominant spastic ataxia + + + Preferential parent + + + + + + 316240 + Autosomal recessive spastic ataxia + + + Preferential parent + + + + + + 319160 + Congenital myopathy with internal nuclei and atypical cores + + + Preferential parent + + + + + + 319189 + Familial cortical myoclonus + + + Preferential parent + + + + + + 319192 + Diencephalic-mesencephalic junction dysplasia + + + Preferential parent + + + + + + 319199 + Autosomal recessive spastic paraplegia type 53 + + + Preferential parent + + + + + + 319332 + Autosomal recessive myogenic arthrogryposis multiplex congenita + + + Preferential parent + + + + + + 320332 + X-linked pure spastic paraplegia + + + Preferential parent + + + + + + 320335 + Pure or complex hereditary spastic paraplegia + + + Preferential parent + + + + + + 320342 + Pure or complex autosomal dominant spastic paraplegia + + + Preferential parent + + + + + + 320346 + Pure or complex autosomal recessive spastic paraplegia + + + Preferential parent + + + + + + 320350 + Pure or complex X-linked spastic paraplegia + + + Preferential parent + + + + + + 320355 + Autosomal dominant spastic paraplegia type 41 + + + Preferential parent + + + + + + 320360 + MT-ATP6-related mitochondrial spastic paraplegia + + + Preferential parent + + + + + + 320365 + Autosomal dominant spastic paraplegia type 36 + + + Preferential parent + + + + + + 320370 + Autosomal recessive spastic paraplegia type 43 + + + Preferential parent + + + + + + 320375 + Autosomal recessive spastic paraplegia type 55 + + + Preferential parent + + + + + + 320380 + Autosomal recessive spastic paraplegia type 54 + + + Preferential parent + + + + + + 320385 + Hereditary sensory and autonomic neuropathy due to TECPR2 mutation + + + Preferential parent + + + + + + 320391 + Autosomal recessive spastic paraplegia type 46 + + + Preferential parent + + + + + + 320396 + Autosomal recessive spastic paraplegia type 45 + + + Preferential parent + + + + + + 320401 + Autosomal recessive spastic paraplegia type 44 + + + Preferential parent + + + + + + 320406 + Spastic paraplegia-optic atrophy-neuropathy syndrome + + + Preferential parent + + + + + + 320411 + Autosomal recessive spastic paraplegia type 56 + + + Preferential parent + + + + + + 324262 + Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency + + + Preferential parent + + + + + + 324290 + PRDM8-related progressive myoclonus epilepsy + + + Preferential parent + + + + + + 324353 + Congenital achiasma + + + Preferential parent + + + + + + 324381 + Hereditary inclusion body myopathy type 4 + + + Preferential parent + + + + + + 324442 + Autosomal recessive axonal neuropathy with neuromyotonia + + + Preferential parent + + + + + + 324581 + Benign Samaritan congenital myopathy + + + Preferential parent + + + + + + 324585 + Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain + + + Preferential parent + + + + + + 324588 + Familial dyskinesia and facial myokymia + + + Preferential parent + + + + + + 324604 + Classic multiminicore myopathy + + + Preferential parent + + + + + + 324611 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation + + + Preferential parent + + + + + + 324703 + ABetaL34V amyloidosis + + + Preferential parent + + + + + + 324708 + ABeta amyloidosis, Iowa type + + + Preferential parent + + + + + + 324713 + ABeta amyloidosis, Italian type + + + Preferential parent + + + + + + 324718 + ABetaA21G amyloidosis + + + Preferential parent + + + + + + 324723 + ABeta amyloidosis, Arctic type + + + Preferential parent + + + + + + 329195 + Developmental delay with autism spectrum disorder and gait instability + + + Preferential parent + + + + + + 329258 + Autosomal dominant Charcot-Marie-Tooth disease type 2Q + + + Preferential parent + + + + + + 329284 + Beta-propeller protein-associated neurodegeneration + + + Preferential parent + + + + + + 329303 + PLA2G6-associated neurodegeneration + + + Preferential parent + + + + + + 329308 + Fatty acid hydroxylase-associated neurodegeneration + + + Preferential parent + + + + + + 329332 + Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome + + + Preferential parent + + + + + + 329466 + Autosomal dominant focal dystonia, DYT25 type + + + Preferential parent + + + + + + 329475 + Spastic paraplegia-Paget disease of bone syndrome + + + Preferential parent + + + + + + 329478 + Adult-onset distal myopathy due to VCP mutation + + + Preferential parent + + + + + + 329888 + Juvenile idiopathic inflammatory myopathy + + + Preferential parent + + + + + + 329894 + Juvenile overlap myositis + + + Preferential parent + + + + + + 330050 + DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect + + + Preferential parent + + + + + + 330054 + Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome + + + Preferential parent + + + + + + 352403 + Spectrin-associated autosomal recessive cerebellar ataxia + + + Preferential parent + + + + + + 352470 + DNA2-related mitochondrial DNA deletion syndrome + + + Preferential parent + + + + + + 352479 + ISPD-related limb-girdle muscular dystrophy R20 + + + Preferential parent + + + + + + 352582 + Familial infantile myoclonic epilepsy + + + Preferential parent + + + + + + 352587 + Focal epilepsy-intellectual disability-cerebro-cerebellar malformation + + + Preferential parent + + + + + + 352596 + Progressive myoclonic epilepsy with dystonia + + + Preferential parent + + + + + + 352641 + Autosomal recessive cerebellar ataxia with late-onset spasticity + + + Preferential parent + + + + + + 352654 + Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome + + + Preferential parent + + + + + + 352670 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type F + + + Preferential parent + + + + + + 352675 + X-linked Charcot-Marie-Tooth disease type 6 + + + Preferential parent + + + + + + 352682 + Cobblestone lissencephaly without muscular or ocular involvement + + + Preferential parent + + + + + + 352709 + CLN13 disease + + + Preferential parent + + + + + + 352723 + Attenuated Chédiak-Higashi syndrome + + + Preferential parent + + + + + + 353253 + Burning mouth syndrome + + + Preferential parent + + + + + + 353327 + Congenital myasthenic syndrome with glycosylation defect + + + Preferential parent + + + + + + 356996 + ANK3-related intellectual disability-sleep disturbance syndrome + + + Preferential parent + + + + + + 357043 + Amyotrophic lateral sclerosis type 4 + + + Preferential parent + + + + + + 363400 + Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome + + + Preferential parent + + + + + + 363409 + Fetal akinesia-cerebral and retinal hemorrhage syndrome + + + Preferential parent + + + + + + 363412 + Hypomyelination with brain stem and spinal cord involvement and leg spasticity + + + Preferential parent + + + + + + 363424 + Multiple mitochondrial dysfunctions syndrome type 3 + + + Preferential parent + + + + + + 363429 + Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome + + + Preferential parent + + + + + + 363432 + Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency + + + Preferential parent + + + + + + 363447 + Autosomal dominant childhood-onset proximal spinal muscular atrophy + + + Preferential parent + + + + + + 363454 + BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy + + + Preferential parent + + + + + + 363528 + Intellectual disability-strabismus syndrome + + + Preferential parent + + + + + + 363540 + Leukoencephalopathy with mild cerebellar ataxia and white matter edema + + + Preferential parent + + + + + + 363549 + Acute encephalopathy with biphasic seizures and late reduced diffusion + + + Preferential parent + + + + + + 363558 + New-onset refractory status epilepticus + + + Preferential parent + + + + + + 363567 + Acute encephalopathy with inflammation-mediated status epilepticus + + + Preferential parent + + + + + + 363623 + GMPPB-related limb-girdle muscular dystrophy R19 + + + Preferential parent + + + + + + 363654 + X-linked parkinsonism-spasticity syndrome + + + Preferential parent + + + + + + 363677 + Childhood-onset autosomal recessive myopathy with external ophthalmoplegia + + + Preferential parent + + + + + + 363710 + Spinocerebellar ataxia type 37 + + + Preferential parent + + + + + + 363717 + Alexander disease type I + + + Preferential parent + + + + + + 363722 + Alexander disease type II + + + Preferential parent + + + + + + 363746 + Balint syndrome + + + Preferential parent + + + + + + 363969 + Autosomal recessive cerebral atrophy + + + Preferential parent + + + + + + 363981 + Charcot-Marie-Tooth disease type 4B3 + + + Preferential parent + + + + + + 364063 + Infantile epileptic-dyskinetic encephalopathy + + + Preferential parent + + + + + + 369837 + Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome + + + Preferential parent + + + + + + 369840 + TRAPPC11-related limb-girdle muscular dystrophy R18 + + + Preferential parent + + + + + + 369847 + Intellectual disability-hyperkinetic movement-truncal ataxia syndrome + + + Preferential parent + + + + + + 369867 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type C + + + Preferential parent + + + + + + 369929 + Primary hyperaldosteronism-seizures-neurological abnormalities syndrome + + + Preferential parent + + + + + + 369939 + Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome + + + Preferential parent + + + + + + 369942 + CADDS + + + Preferential parent + + + + + + 370022 + Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome + + + Preferential parent + + + + + + 370103 + Primary dystonia, DYT17 type + + + Preferential parent + + + + + + 370106 + Rare disorder with dystonia and other neurologic or systemic manifestation + + + Preferential parent + + + + + + 370109 + Ataxia-telangiectasia variant + + + Preferential parent + + + + + + 370921 + STT3A-CDG + + + Preferential parent + + + + + + 370924 + STT3B-CDG + + + Preferential parent + + + + + + 370927 + SSR4-CDG + + + Preferential parent + + + + + + 370943 + Autism spectrum disorder-epilepsy-arthrogryposis syndrome + + + Preferential parent + + + + + + 370953 + Congenital muscular dystrophy due to dystroglycanopathy + + + Preferential parent + + + + + + 370959 + Congenital muscular dystrophy with cerebellar involvement + + + Preferential parent + + + + + + 370968 + Congenital muscular dystrophy with intellectual disability + + + Preferential parent + + + + + + 370980 + Congenital muscular dystrophy without intellectual disability + + + Preferential parent + + + + + + 370997 + Muscle-eye-brain disease with bilateral multicystic leucodystrophy + + + Preferential parent + + + + + + 371007 + Congenital muscular dystrophy with hyperlaxity + + + Preferential parent + + + + + + 371024 + Qualitative or quantitative defects of alpha-dystroglycan + + + Preferential parent + + + + + + 371040 + Primary qualitative or quantitative defects of alpha-dystroglycan + + + Preferential parent + + + + + + 371364 + Hypotonia-speech impairment-severe cognitive delay syndrome + + + Preferential parent + + + + + + 371433 + Genetic periodic paralysis + + + Preferential parent + + + + + + 371442 + Sphingolipidosis with epilepsy + + + Preferential parent + + + + + + 376724 + Generalized isolated dystonia + + + Preferential parent + + + + + + 391316 + Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression + + + Preferential parent + + + + + + 391343 + Fatal post-viral neurodegenerative disorder + + + Preferential parent + + + + + + 391351 + SURF1-related Charcot-Marie-Tooth disease type 4 + + + Preferential parent + + + + + + 391372 + FOXP1 Syndrome + + + Preferential parent + + + + + + 391376 + Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome + + + Preferential parent + + + + + + 391384 + Familial episodic pain syndrome + + + Preferential parent + + + + + + 391389 + Familial episodic pain syndrome with predominantly upper body involvement + + + Preferential parent + + + + + + 391392 + Familial episodic pain syndrome with predominantly lower limb involvement + + + Preferential parent + + + + + + 391397 + Hereditary sensory and autonomic neuropathy type 7 + + + Preferential parent + + + + + + 391408 + Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome + + + Preferential parent + + + + + + 391411 + Atypical juvenile parkinsonism + + + Preferential parent + + + + + + 391490 + Adult-onset myasthenia gravis + + + Preferential parent + + + + + + 391497 + Juvenile myasthenia gravis + + + Preferential parent + + + + + + 391504 + Transient neonatal myasthenia gravis + + + Preferential parent + + + + + + 391711 + Persistent combined dystonia + + + Preferential parent + + + + + + 391799 + Rare genetic dystonia + + + Preferential parent + + + + + + 397606 + PrP systemic amyloidosis + + + Preferential parent + + + + + + 397725 + COASY protein-associated neurodegeneration + + + Preferential parent + + + + + + 397735 + Autosomal dominant Charcot-Marie-Tooth disease type 2U + + + Preferential parent + + + + + + 397744 + MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome + + + Preferential parent + + + + + + 397750 + Periodic paralysis with later-onset distal motor neuropathy + + + Preferential parent + + + + + + 397755 + Periodic paralysis with transient compartment-like syndrome + + + Preferential parent + + + + + + 397922 + Ferro-cerebro-cutaneous syndrome + + + Preferential parent + + + + + + 397933 + Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome + + + Preferential parent + + + + + + 397946 + Autosomal spastic paraplegia type 58 + + + Preferential parent + + + + + + 397951 + Microcephaly-thin corpus callosum-intellectual disability syndrome + + + Preferential parent + + + + + + 397968 + Charcot-Marie-Tooth disease type 2R + + + Preferential parent + + + + + + 398147 + Persistent idiopathic facial pain + + + Preferential parent + + + + + + 399058 + Alpha-B crystallin-related late-onset myopathy + + + Preferential parent + + + + + + 399081 + KLHL9-related early-onset distal myopathy + + + Preferential parent + + + + + + 399086 + HNRNPA1-related adult-onset distal myopathy + + + Preferential parent + + + + + + 399096 + Distal anoctaminopathy + + + Preferential parent + + + + + + 399103 + Autosomal recessive distal nebulin myopathy + + + Preferential parent + + + + + + 401768 + Proximal myopathy with extrapyramidal signs + + + Preferential parent + + + + + + 401780 + Autosomal recessive spastic paraplegia type 61 + + + Preferential parent + + + + + + 401785 + Autosomal recessive spastic paraplegia type 62 + + + Preferential parent + + + + + + 401795 + Autosomal recessive spastic paraplegia type 59 + + + Preferential parent + + + + + + 401800 + Autosomal recessive spastic paraplegia type 60 + + + Preferential parent + + + + + + 401805 + Autosomal recessive spastic paraplegia type 63 + + + Preferential parent + + + + + + 401810 + Autosomal recessive spastic paraplegia type 64 + + + Preferential parent + + + + + + 401815 + Autosomal recessive spastic paraplegia type 66 + + + Preferential parent + + + + + + 401820 + Autosomal recessive spastic paraplegia type 67 + + + Preferential parent + + + + + + 401830 + Autosomal recessive spastic paraplegia type 69 + + + Preferential parent + + + + + + 401835 + Autosomal recessive spastic paraplegia type 70 + + + Preferential parent + + + + + + 401840 + Autosomal recessive spastic paraplegia type 71 + + + Preferential parent + + + + + + 401849 + Autosomal spastic paraplegia type 72 + + + Preferential parent + + + + + + 401901 + Huntington disease-like syndrome due to C9ORF72 expansions + + + Preferential parent + + + + + + 401923 + 9q31.1q31.3 microdeletion syndrome + + + Preferential parent + + + + + + 401935 + 14q24.1q24.3 microdeletion syndrome + + + Preferential parent + + + + + + 401953 + Episodic ataxia with slurred speech + + + Preferential parent + + + + + + 401959 + Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome + + + Preferential parent + + + + + + 401964 + Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons + + + Preferential parent + + + + + + 401973 + MEND syndrome + + + Preferential parent + + + + + + 401993 + Cold-induced sweating syndrome-hyperthermia spectrum + + + Preferential parent + + + + + + 402082 + Progressive myoclonic epilepsy type 5 + + + Preferential parent + + + + + + 402364 + Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly + + + Preferential parent + + + + + + 404437 + Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome + + + Preferential parent + + + + + + 404448 + Helsmoortel-Van der Aa syndrome + + + Preferential parent + + + + + + 404473 + Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome + + + Preferential parent + + + + + + 404481 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome + + + Preferential parent + + + + + + 404493 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency + + + Preferential parent + + + + + + 404499 + Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency + + + Preferential parent + + + + + + 404521 + Spinal muscular atrophy with respiratory distress type 2 + + + Preferential parent + + + + + + 404538 + X-linked distal hereditary motor neuropathy + + + Preferential parent + + + + + + 411511 + Angelman syndrome due to a point mutation + + + Preferential parent + + + + + + 411515 + Angelman syndrome due to imprinting defect in 15q11-q13 + + + Preferential parent + + + + + + 411602 + Hereditary late-onset Parkinson disease + + + Preferential parent + + + + + + 411986 + Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome + + + Preferential parent + + + + + + 412057 + Autosomal recessive cerebellar ataxia due to STUB1 deficiency + + + Preferential parent + + + + + + 412066 + PRKAR1B-related neurodegenerative dementia with intermediate filaments + + + Preferential parent + + + + + + 412069 + AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome + + + Preferential parent + + + + + + 412217 + Dystonia-aphonia syndrome + + + Preferential parent + + + + + + 415286 + Bilirubin encephalopathy + + + Preferential parent + + + + + + 420485 + Cranio-cervical dystonia with laryngeal and upper-limb involvement + + + Preferential parent + + + + + + 420492 + Adult-onset cervical dystonia, DYT23 type + + + Preferential parent + + + + + + 420789 + Autoimmune encephalopathy with parasomnia and obstructive sleep apnea + + + Preferential parent + + + + + + 423275 + Spinocerebellar ataxia type 40 + + + Preferential parent + + + + + + 423296 + Spinocerebellar ataxia type 38 + + + Preferential parent + + + + + + 423662 + Rare autonomic nervous system disorder + + + Preferential parent + + + + + + 423894 + Microcephaly-complex motor and sensory axonal neuropathy syndrome + + + Preferential parent + + + + + + 424027 + Progressive myoclonic epilepsy type 8 + + + Preferential parent + + + + + + 424107 + Congenital myopathy with myasthenic-like onset + + + Preferential parent + + + + + + 424261 + TOR1AIP1-related limb-girdle muscular dystrophy + + + Preferential parent + + + + + + 424925 + Qualitative or quantitative defects of Torsin-1A-interacting protein 1 + + + Preferential parent + + + + + + 431255 + Scapuloperoneal spinal muscular atrophy + + + Preferential parent + + + + + + 431263 + Late-onset scapuloperoneal muscular dystrophy with hyaline bodies + + + Preferential parent + + + + + + 431272 + X-linked scapuloperoneal muscular dystrophy + + + Preferential parent + + + + + + 431320 + Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder + + + Preferential parent + + + + + + 431329 + Autosomal recessive spastic paraplegia type 57 + + + Preferential parent + + + + + + 431361 + Progressive encephalopathy with leukodystrophy due to DECR deficiency + + + Preferential parent + + + + + + 434786 + Rare genetic autonomic nervous system disorder + + + Preferential parent + + + + + + 435387 + Autosomal dominant Charcot-Marie-Tooth disease type 2Y + + + Preferential parent + + + + + + 435438 + Progressive myoclonic epilepsy type 7 + + + Preferential parent + + + + + + 435638 + 3p25.3 microdeletion syndrome + + + Preferential parent + + + + + + 435819 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation + + + Preferential parent + + + + + + 435845 + Lethal neonatal spasticity-epileptic encephalopathy syndrome + + + Preferential parent + + + + + + 435998 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type D + + + Preferential parent + + + + + + 436151 + Intellectual disability-expressive aphasia-facial dysmorphism syndrome + + + Preferential parent + + + + + + 436271 + Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy + + + Preferential parent + + + + + + 438114 + RARS-related autosomal recessive hypomyelinating leukodystrophy + + + Preferential parent + + + + + + 438213 + PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome + + + Preferential parent + + + + + + 438216 + PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation + + + Preferential parent + + + + + + 438266 + Progressive encephalomyelitis with rigidity and myoclonus + + + Preferential parent + + + + + + 439175 + Pediatric arterial ischemic stroke + + + Preferential parent + + + + + + 439202 + Non-recovering obstetric brachial plexus lesion + + + Preferential parent + + + + + + 439212 + Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome + + + Preferential parent + + + + + + 439218 + KCNQ2-related developmental and epileptic encephalopathy + + + Preferential parent + + + + + + 439254 + ITM2B amyloidosis + + + Preferential parent + + + + + + 440706 + Ribose-5-P isomerase deficiency + + + Preferential parent + + + + + + 442835 + Non-specific early-onset epileptic encephalopathy + + + Preferential parent + + + + + + 443070 + Hemicrania continua + + + Preferential parent + + + + + + 443073 + Charcot-Marie-Tooth disease type 2S + + + Preferential parent + + + + + + 443084 + Baroreflex failure + + + Preferential parent + + + + + + 443162 + NDE1-related microhydranencephaly + + + Preferential parent + + + + + + 443173 + Postpartum psychosis + + + Preferential parent + + + + + + 443180 + Spontaneous intracranial hypotension + + + Preferential parent + + + + + + 443192 + Classic stiff person syndrome + + + Preferential parent + + + + + + 443236 + Postural orthostatic tachycardia syndrome due to NET deficiency + + + Preferential parent + + + + + + 443804 + Focal stiff limb syndrome + + + Preferential parent + + + + + + 443950 + DNAJB2-related Charcot-Marie-Tooth disease type 2 + + + Preferential parent + + + + + + 444099 + Autosomal dominant spastic paraplegia type 73 + + + Preferential parent + + + + + + 445110 + Limb-girdle muscular dystrophy due to POMK deficiency + + + Preferential parent + + + + + + 447753 + Autosomal dominant spastic paraplegia type 9A + + + Preferential parent + + + + + + 447757 + Autosomal dominant spastic paraplegia type 9B + + + Preferential parent + + + + + + 447760 + Autosomal recessive spastic paraplegia type 9B + + + Preferential parent + + + + + + 447881 + Idiopathic dropped head syndrome + + + Preferential parent + + + + + + 447893 + Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome + + + Preferential parent + + + + + + 447896 + Tremor-ataxia-central hypomyelination syndrome + + + Preferential parent + + + + + + 447964 + Autosomal dominant Charcot-Marie-Tooth disease type 2V + + + Preferential parent + + + + + + 447977 + Progressive scapulohumeroperoneal distal myopathy + + + Preferential parent + + + + + + 448426 + Genetic primary orthostatic hypotension + + + Preferential parent + + + + + + 449427 + IgG4-related pachymeningitis + + + Preferential parent + + + + + + 453510 + Congenital insensitivity to pain with severe intellectual disability + + + Preferential parent + + + + + + 453521 + Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency + + + Preferential parent + + + + + + 454700 + Acquired Creutzfeldt-Jakob disease + + + Preferential parent + + + + + + 454706 + Progressive muscular atrophy + + + Preferential parent + + + + + + 454742 + Variably protease-sensitive prionopathy + + + Preferential parent + + + + + + 454745 + Kuru + + + Preferential parent + + + + + + 454887 + Corticobasal syndrome + + + Preferential parent + + + + + + 456318 + Hereditary sensory neuropathy-deafness-dementia syndrome + + + Preferential parent + + + + + + 457050 + Autosomal dominant mitochondrial myopathy with exercise intolerance + + + Preferential parent + + + + + + 457074 + Congenital nemaline myopathy + + + Preferential parent + + + + + + 457185 + Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome + + + Preferential parent + + + + + + 457205 + Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome + + + Preferential parent + + + + + + 457212 + Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome + + + Preferential parent + + + + + + 457260 + X-linked intellectual disability-hypotonia-movement disorder syndrome + + + Preferential parent + + + + + + 457265 + Progressive myoclonic epilepsy type 9 + + + Preferential parent + + + + + + 457375 + ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement + + + Preferential parent + + + + + + 458798 + Spinocerebellar ataxia type 41 + + + Preferential parent + + + + + + 458803 + Spinocerebellar ataxia type 42 + + + Preferential parent + + + + + + 459033 + Ataxia-oculomotor apraxia type 4 + + + Preferential parent + + + + + + 459056 + Autosomal recessive spastic paraplegia type 75 + + + Preferential parent + + + + + + 464440 + Primary dystonia, DYT27 type + + + Preferential parent + + + + + + 464764 + Immune-mediated acquired neuromuscular junction disease + + + Preferential parent + + + + + + 466650 + Exercise-induced malignant hyperthermia + + + Preferential parent + + + + + + 466658 + Rare disease with malignant hyperthermia + + + Preferential parent + + + + + + 466722 + Autosomal recessive spastic paraplegia type 77 + + + Preferential parent + + + + + + 466768 + Autosomal dominant Charcot-Marie-Tooth disease type 2Z + + + Preferential parent + + + + + + 466794 + Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome + + + Preferential parent + + + + + + 466921 + Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome + + + Preferential parent + + + + + + 466934 + VPS11-related autosomal recessive hypomyelinating leukodystrophy + + + Preferential parent + + + + + + 467176 + Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome + + + Preferential parent + + + + + + 468620 + Intellectual disability-epilepsy-extrapyramidal syndrome + + + Preferential parent + + + + + + 468631 + Microcephalic cortical malformations-short stature due to RTTN deficiency + + + Preferential parent + + + + + + 468661 + Autosomal recessive spastic paraplegia type 74 + + + Preferential parent + + + + + + 476084 + BVES-related limb-girdle muscular dystrophy + + + Preferential parent + + + + + + 476093 + HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome + + + Preferential parent + + + + + + 476109 + Axonal hereditary motor and sensory neuropathy + + + Preferential parent + + + + + + 476116 + Demyelinating hereditary motor and sensory neuropathy + + + Preferential parent + + + + + + 476123 + Intermediate Charcot-Marie-Tooth disease + + + Preferential parent + + + + + + 476394 + PMP2-related Charcot-Marie-Tooth disease type 1 + + + Preferential parent + + + + + + 476403 + Hypercontractile muscle stiffness syndrome + + + Preferential parent + + + + + + 476406 + Congenital generalized hypercontractile muscle stiffness syndrome + + + Preferential parent + + + + + + 477673 + Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome + + + Preferential parent + + + + + + 477738 + Pediatric multiple sclerosis + + + Preferential parent + + + + + + 477749 + Pontine autosomal dominant microangiopathy with leukoencephalopathy + + + Preferential parent + + + + + + 477754 + Genetic cerebral small vessel disease + + + Preferential parent + + + + + + 477759 + COL4A1 or COL4A2-related cerebral small vessel disease + + + Preferential parent + + + + + + 477762 + COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency + + + Preferential parent + + + + + + 477765 + COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency + + + Preferential parent + + + + + + 477768 + Moyamoya angiopathy + + + Preferential parent + + + + + + 477771 + Rare disorder with a moyamoya angiopathy + + + Preferential parent + + + + + + 478664 + Hereditary sensory and autonomic neuropathy type 8 + + + Preferential parent + + + + + + 480682 + POGLUT1-related limb-girdle muscular dystrophy R21 + + + Preferential parent + + + + + + 480701 + Facial diplegia with paresthesias + + + Preferential parent + + + + + + 480864 + Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome + + + Preferential parent + + + + + + 481665 + Pseudo-TORCH syndrome type 2 + + + Preferential parent + + + + + + 482072 + HTRA1-related cerebral small vessel disease + + + Preferential parent + + + + + + 482077 + HTRA1-related autosomal dominant cerebral small vessel disease + + + Preferential parent + + + + + + 482601 + Adenylosuccinate synthetase-like 1-related distal myopathy + + + Preferential parent + + + + + + 485350 + CLCN4-related X-linked intellectual disability syndrome + + + Preferential parent + + + + + + 485418 + EMILIN-1-related connective tissue disease + + + Preferential parent + + + + + + 485421 + MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect + + + Preferential parent + + + + + + 486815 + Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome + + + Preferential parent + + + + + + 487814 + Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation + + + Preferential parent + + + + + + 488333 + Autosomal dominant Charcot-Marie-Tooth disease type 2W + + + Preferential parent + + + + + + 488594 + Autosomal recessive spastic paraplegia type 76 + + + Preferential parent + + + + + + 488613 + Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome + + + Preferential parent + + + + + + 488650 + Distal myopathy, Tateyama type + + + Preferential parent + + + + + + 494457 + Rare hyperkinetic movement disorder + + + Preferential parent + + + + + + 494526 + Infantile-onset generalized dyskinesia with orofacial involvement + + + Preferential parent + + + + + + 494541 + Childhood-onset benign chorea with striatal involvement + + + Preferential parent + + + + + + 495274 + Charcot-Marie-Tooth disease type 2T + + + Preferential parent + + + + + + 495844 + C11ORF73-related autosomal recessive hypomyelinating leukodystrophy + + + Preferential parent + + + + + + 496686 + Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome + + + Preferential parent + + + + + + 496689 + Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome + + + Preferential parent + + + + + + 496756 + Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome + + + Preferential parent + + + + + + 496790 + Ocular anomalies-axonal neuropathy-developmental delay syndrome + + + Preferential parent + + + + + + 496916 + Rare genetic hyperkinetic movement disorder + + + Preferential parent + + + + + + 497764 + Spinocerebellar ataxia type 43 + + + Preferential parent + + + + + + 497906 + Childhood-onset basal ganglia degeneration syndrome + + + Preferential parent + + + + + + 500180 + Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder + + + Preferential parent + + + + + + 500533 + Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome + + + Preferential parent + + + + + + 500545 + Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract + + + Preferential parent + + + + + + 502444 + Alkaline ceramidase 3 deficiency + + + Preferential parent + + + + + + 504476 + Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome + + + Preferential parent + + + + + + 505208 + 3-methylglutaconic aciduria type 8 + + + Preferential parent + + + + + + 505216 + 3-methylglutaconic aciduria type 9 + + + Preferential parent + + + + + + 505242 + Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome + + + Preferential parent + + + + + + 505652 + CDKL5-deficiency disorder + + + Preferential parent + + + + + + 506353 + Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction + + + Preferential parent + + + + + + 508093 + MEPAN syndrome + + + Preferential parent + + + + + + 508523 + Hyperphenylalaninemia due to DNAJC12 deficiency + + + Preferential parent + + + + + + 512260 + Congenital cerebellar ataxia due to RNU12 mutation + + + Preferential parent + + + + + + 513436 + Autosomal recessive spastic paraplegia type 78 + + + Preferential parent + + + + + + 514980 + ATP13A2-related parkinsonism + + + Preferential parent + + + + + + 521123 + Radiation-induced plexopathy + + + Preferential parent + + + + + + 521232 + Genetic primary orthostatic disorder + + + Preferential parent + + + + + + 521236 + Primary orthostatic disorder + + + Preferential parent + + + + + + 521305 + Proximal myopathy with focal depletion of mitochondria + + + Preferential parent + + + + + + 521390 + Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome + + + Preferential parent + + + + + + 521406 + Dystonia-parkinsonism-hypermanganesemia syndrome + + + Preferential parent + + + + + + 521411 + Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect + + + Preferential parent + + + + + + 521414 + Autosomal dominant Charcot-Marie-Tooth disease type 2DD + + + Preferential parent + + + + + + 522077 + Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome + + + Preferential parent + + + + + + 522506 + Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature + + + Preferential parent + + + + + + 522522 + Rare genetic neuromuscular disorder with ocular motility/alignment anomaly + + + Preferential parent + + + + + + 525738 + Prepubertal anorexia nervosa + + + Preferential parent + + + + + + 527276 + Encephalopathy due to mitochondrial and peroxisomal fission defect + + + Preferential parent + + + + + + 527497 + NKX6-2-related autosomal recessive hypomyelinating leukodystrophy + + + Preferential parent + + + + + + 528084 + Non-specific syndromic intellectual disability + + + Preferential parent + + + + + + 529799 + Acute bilirubin encephalopathy + + + Preferential parent + + + + + + 529808 + Chronic bilirubin encephalopathy + + + Preferential parent + + + + + + 530298 + Progressive myoclonic epilepsy with neuroserpin inclusion bodies + + + Preferential parent + + + + + + 530303 + Progressive dementia with neuroserpin inclusion bodies + + + Preferential parent + + + + + + 531151 + 9q21.13 microdeletion syndrome + + + Preferential parent + + + + + + 538096 + Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy + + + Preferential parent + + + + + + 538101 + Congenital axonal neuropathy with encephalopathy + + + Preferential parent + + + + + + 538238 + Neurological channelopathy of the central nervous system due to a genetic chloride channel defect + + + Preferential parent + + + + + + 541423 + Growth delay-intellectual disability-hepatopathy syndrome + + + Preferential parent + + + + + + 542310 + Leukoencephalopathy with calcifications and cysts + + + Preferential parent + + + + + + 544254 + SYNGAP1-related developmental and epileptic encephalopathy + + + Preferential parent + + + + + + 544469 + PRUNE1-related neurological syndrome + + + Preferential parent + + + + + + 544602 + Congenital myopathy with reduced type 2 muscle fibers + + + Preferential parent + + + + + + 556985 + Early-onset calcifying leukoencephalopathy-skeletal dysplasia + + + Preferential parent + + + + + + 557056 + Spastic ataxia-dysarthria due to glutaminase deficiency + + + Preferential parent + + + + + + 557064 + Neonatal epileptic encephalopathy due to glutaminase deficiency + + + Preferential parent + + + + + + 561854 + FOXG1 syndrome + + + Preferential parent + + + + + + 562559 + Anterior maxillary protrusion-strabismus-intellectual disability syndrome + + + Preferential parent + + + + + + 565624 + Combined oxidative phosphorylation defect type 39 + + + Preferential parent + + + + + + 565837 + Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 + + + Preferential parent + + + + + + 565899 + POMGNT2-related limb-girdle muscular dystrophy R24 + + + Preferential parent + + + + + + 565909 + Calpain-3-related limb-girdle muscular dystrophy D4 + + + Preferential parent + + + + + + 572543 + RFVT2-related riboflavin transporter deficiency + + + Preferential parent + + + + + + 572550 + RFVT3-related riboflavin transporter deficiency + + + Preferential parent + + + + + + 575553 + Cathepsin A-related arteriopathy-strokes-leukoencephalopathy + + + Preferential parent + + + + + + 576356 + Sporadic human prion disease + + + Preferential parent + + + + + + 576360 + Acquired human prion disease + + + Preferential parent + + + + + + 576370 + Variant Creutzfeldt-Jakob disease + + + Preferential parent + + + + + + 576379 + Iatrogenic Creutzfeldt-Jakob disease + + + Preferential parent + + + + + + 581271 + Cramp-fasciculation syndrome + + + Preferential parent + + + + + + 586130 + Sporadic fatal insomnia + + + Preferential parent + + + + + + 589515 + PUM1-associated developmental disability-ataxia-seizure syndrome + + + Preferential parent + + + + + + 589522 + Spinocerebellar ataxia type 46 + + + Preferential parent + + + + + + 589527 + Spinocerebellar ataxia type 45 + + + Preferential parent + + + + + + 589547 + GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder + + + Preferential parent + + + + + + 589618 + Dystonia 28 + + + Preferential parent + + + + + + 589821 + Congenital-onset Steinert myotonic dystrophy + + + Preferential parent + + + + + + 589824 + Childhood-onset Steinert myotonic dystrophy + + + Preferential parent + + + + + + 589827 + Juvenile-onset Steinert myotonic dystrophy + + + Preferential parent + + + + + + 589830 + Adult-onset Steinert myotonic dystrophy + + + Preferential parent + + + + + + 589833 + Late-onset Steinert myotonic dystrophy + + + Preferential parent + + + + + + 592564 + GNAO1-related developmental delay-seizures-movement disorder spectrum + + + Preferential parent + + + + + + 592850 + Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies + + + Preferential parent + + + + + + 592856 + Neuromyelitis optica spectrum disorder with anti-MOG antibodies + + + Preferential parent + + + + + + 592869 + Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies + + + Preferential parent + + + + + + 592873 + Acute transverse myelitis with anti-MOG antibodies + + + Preferential parent + + + + + + 592894 + Acute disseminated encephalomyelitis with anti-MOG antibodies + + + Preferential parent + + + + + + 592900 + Acute disseminated encephalomyelitis without anti-MOG antibodies + + + Preferential parent + + + + + + 597623 + IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome + + + Preferential parent + + + + + + 597874 + MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome + + + Preferential parent + + + + + + 598164 + FOXG1 syndrome due to intragenic alteration + + + Preferential parent + + + + + + 599373 + STXBP1-related encephalopathy + + + Preferential parent + + + + + + 599376 + Hypomyelination of early myelinating structures + + + Preferential parent + + + + + + 600663 + NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance + + + Preferential parent + + + + + + 603694 + KLHL7-related Crisponi/cold-induced sweating-like syndrome + + + Preferential parent + + + + + + 603699 + Recessive KLHL7-related disorder + + + Preferential parent + + + + + + 604680 + Symptomatic form of X-linked centronuclear myopathy in female carriers + + + Preferential parent + + + + + + 610573 + CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome + + + Preferential parent + + + + + + 611237 + Parkinsonism with polyneuropathy + + + Preferential parent + + + + + + 611314 + Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome + + + Preferential parent + + + + + + 615964 + Acute reversible 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brainstem encephalitis + + + Preferential parent + + + + + + 624199 + Non-specific autoimmune brainstem encephalitis with characteristic antibodies + + + Preferential parent + + + + + + 624216 + Non-specific autoimmune brainstem encephalitis without characteristic antibodies + + + Preferential parent + + + + + + 624244 + Postinfectious cerebellitis + + + Preferential parent + + + + + + 624259 + Non-specific autoimmune cerebellar ataxia with characteristic antibodies + + + Preferential parent + + + + + + 624268 + Non-specific autoimmune cerebellar ataxia without characteristic antibodies + + + Preferential parent + + + + + + 631068 + Autosomal dominant spastic paraplegia type 80 + + + Preferential parent + + + + + + 631073 + Autosomal recessive spastic paraplegia type 82 + + + Preferential parent + + + + + + 631076 + Autosomal recessive spastic paraplegia type 83 + + + Preferential parent + + + + + + 631079 + Autosomal recessive spastic paraplegia type 84 + + + Preferential parent + + + 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parent + + + + + + 693802 + Neonatal-infantile onset epilepsy syndrome + + + Preferential parent + + + + + + 694356 + ADAR-related hereditary spastic paraplegia + + + Preferential parent + + + + + + 694922 + Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome + + + Preferential parent + + + + + + 695783 + EDEM3-CDG + + + Preferential parent + + + + + + 696063 + PLIN4-related distal myopathy + + + Preferential parent + + + + + + 697160 + Infantile epileptic spasms syndrome + + + Preferential parent + + + + + + 698005 + Epilepsy with generalized tonic-clonic seizures alone + + + Preferential parent + + + + + + 699645 + Variable age-onset epilepsy syndrome + + + Preferential parent + + + + + + 699708 + CLN14 disease + + + Preferential parent + + + + + + 699718 + Infantile CLN1 disease + + + Preferential parent + + + + + + 699734 + Late infantile CLN1 disease + + + Preferential parent + + + + + + 699739 + Juvenile CLN1 disease + + + Preferential parent + + + + + + 699745 + Adult CLN1 disease + + + Preferential parent + + + + + + 699751 + Infantile CLN2 disease + + + Preferential parent + + + + + + 699761 + Late infantile CLN2 disease + + + Preferential parent + + + + + + 699769 + Juvenile CLN2 disease + + + Preferential parent + + + + + + 699780 + Juvenile CLN3 disease + + + Preferential parent + + + + + + 699796 + Protracted juvenile CLN3 disease + + + Preferential parent + + + + + + 699802 + Late infantile CLN5 disease + + + Preferential parent + + + + + + 699807 + Juvenile CLN5 disease + + + Preferential parent + + + + + + 699812 + Adult CLN5 disease + + + Preferential parent + + + + + + 699850 + 2p25.3 microduplication syndrome + + + Preferential parent + + + + + + 700143 + X-linked distal myopathy + + + Preferential parent + + + + + + 700154 + TARDBP-related predominantly upper-limb distal myopathy + + + Preferential parent + + + + + + 700163 + SMPX-related distal myopathy + + + Preferential parent + + + + + + 700170 + DNAJB4-related distal myopathy + + + Preferential parent + + + + + + 700188 + Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy + + + Preferential parent + + + + + + 700333 + Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency + + + Preferential parent + + + + + + 700336 + Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency + + + Preferential parent + + + + + + 700467 + Late infantile CLN6 disease + + + Preferential parent + + + + + + 700472 + Juvenile CLN6 disease + + + Preferential parent + + + + + + 700477 + Adult CLN6 disease + + + Preferential parent + + + + + + 700484 + Late infantile CLN8 disease + + + Preferential parent + + + + + + 700487 + Congenital CLN10 disease + + + Preferential parent + + + + + + 700492 + Late infantile CLN10 disease + + + Preferential parent + + + + + + 700497 + Juvenile CLN10 disease + + + Preferential parent + + + + + + 700508 + Distal muscle weakness-foot deformity-elevated sorbitol 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myasthenic syndrome due to defective synthesis or recycling of acetylcholine + + + Preferential parent + + + + + + 716899 + Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + + + Preferential parent + + + + + + 716903 + Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + + + Preferential parent + + + + + + 716908 + Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis + + + Preferential parent + + + + + + 716913 + Ubiquitously expressed proteins associated congenital myasthenic syndrome + + + Preferential parent + + + + + + 716917 + Congenital myasthenic syndrome with mitochondrial defect + + + Preferential parent + + + + + + 600194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194 + Factor V Atlanta bleeding disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98010 + Infectious disease of the nervous system + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 98033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98033 + Rare neurologic disease with psychiatric involvement + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98036 + Rare otorhinolaryngologic disease + + + + + 637 + Full NF2-related schwannomatosis + + + Preferential parent + + + + + + 2373 + Congenital laryngomalacia + + + Preferential parent + + + + + + 2374 + Isolated congenital laryngeal web + + + Preferential parent + + + + + + 705 + Pendred syndrome + + + Preferential parent + + + + + + 2372 + Laryngocele + + + Preferential parent + + + + + + 922 + Familial nasal acilia + + + Preferential parent + + + + + + 2291 + Congenital velopharyngeal incompetence + + + Preferential parent + + + + + + 2405 + Thickened earlobes-conductive deafness syndrome + + + Preferential parent + + + + + + 2668 + Nephropathy-deafness-hyperparathyroidism syndrome + + + Preferential parent + + + + + + 2808 + Laryngeal abductor paralysis + + + Preferential parent + + + + + + 3239 + Deafness-vitiligo-achalasia syndrome + + + Preferential parent + + + + + + 68361 + Rare deafness + + + Preferential parent + + + + + + 66633 + Sensorineural hearing loss-early graying-essential tremor syndrome + + + Preferential parent + + + + + + 71276 + Silent sinus syndrome + + + Preferential parent + + + + + + 87884 + Rare non-syndromic genetic deafness + + + Preferential parent + + + + + + 88620 + Isolated congenital anosmia + + + Preferential parent + + + + + + 90024 + Deafness with labyrinthine aplasia, microtia, and microdontia + + + Preferential parent + + + + + + 90059 + Sudden sensorineural hearing loss + + + Preferential parent + + + + + + 90625 + Rare X-linked non-syndromic sensorineural 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dermoid cyst + + + Preferential parent + + + + + + 141071 + Isolated digestive duplication cyst of the tongue + + + Preferential parent + + + + + + 141103 + Nasal dermoid cyst + + + Preferential parent + + + + + + 141107 + Nasopharyngeal teratoma + + + Preferential parent + + + + + + 141112 + Nasal glial heterotopia + + + Preferential parent + + + + + + 141121 + Congenital subglottic stenosis + + + Preferential parent + + + + + + 141124 + Congenital laryngeal cyst + + + Preferential parent + + + + + + 141127 + Congenital tracheal stenosis + + + Preferential parent + + + + + + 162526 + Isolated congenital auditory ossicle malformation + + + Preferential parent + + + + + + 171684 + Idiopathic bilateral vestibulopathy + + + Preferential parent + + + + + + 210272 + Mal de débarquement + + + Preferential parent + + + + + + 228012 + Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome + + + Preferential parent + + + + + + 289596 + Juvenile nasopharyngeal angiofibroma + + + Preferential parent + + + + + + 324321 + Sinoatrial node dysfunction and deafness + + + Preferential parent + + + + + + 363396 + High myopia-sensorineural deafness syndrome + + + Preferential parent + + + + + + 420402 + Semicircular canal dehiscence syndrome + + + Preferential parent + + + + + + 449432 + IgG4-related submandibular gland disease + + + Preferential parent + + + + + + 466084 + Genetic otorhinolaryngologic disease + + + Preferential parent + + + + + + 466775 + Autosomal recessive Charcot-Marie-Tooth disease type 2X + + + Preferential parent + + + + + + 494444 + DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome + + + Preferential parent + + + + + + 500188 + X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome + + + Preferential parent + + + + + + 502305 + Cochleovestibular malformation + + + Preferential parent + + + + + + 502318 + Cochlear nerve deficiency + + + Preferential parent + + + + + + 529574 + Duane retraction syndrome with congenital deafness + + + Preferential parent + + + + + + 634475 + Mosaic NF2-related schwannomatosis + + + Preferential parent + + + + + + 652681 + Idiopathic subglottic stenosis + + + Preferential parent + + + + + + 98023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98023 + Rare systemic or rheumatologic disease + + + + + 558 + Marfan syndrome + + + Preferential parent + + + + + + 536 + Systemic lupus erythematosus + + + Preferential parent + + + + + + 3099 + Rheumatic fever + + + Preferential parent + + + + + + 287 + Classical Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 69 + Amyloidosis + + + Preferential parent + + + + + + 732 + Polymyositis + + + Preferential parent + + + + + + 221 + Dermatomyositis + + + Preferential parent + + + + + + 117 + Behçet disease + + + Preferential parent + + + + + + 92 + Juvenile idiopathic arthritis + + + Preferential parent + + + + + + 797 + Sarcoidosis + + + Preferential parent + + + 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Familial articular hypermobility syndrome + + + Preferential parent + + + + + + 575 + Muckle-Wells syndrome + + + Preferential parent + + + + + + 2848 + Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome + + + Preferential parent + + + + + + 3130 + Satoyoshi syndrome + + + Preferential parent + + + + + + 2582 + Myalgia-eosinophilia syndrome associated with tryptophan + + + Preferential parent + + + + + + 2963 + Progeroid syndrome, Petty type + + + Preferential parent + + + + + + 820 + Sneddon syndrome + + + Preferential parent + + + + + + 1467 + Cogan syndrome + + + Preferential parent + + + + + + 1451 + CINCA syndrome + + + Preferential parent + + + + + + 767 + Polyarteritis nodosa + + + Preferential parent + + + + + + 2953 + Musculocontractural Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 809 + Mixed connective tissue disease + + + Preferential parent + + + + + + 389 + Langerhans cell histiocytosis + + + Preferential parent + + + + + + 285 + Hypermobile Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 286 + Vascular Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 1900 + Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency + + + Preferential parent + + + + + + 1899 + Arthrochalasia Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 1901 + Dermatosparaxis Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 80 + Antiphospholipid syndrome + + + Preferential parent + + + + + + 829 + Adult-onset Still disease + + + Preferential parent + + + + + + 793 + SAPHO syndrome + + + Preferential parent + + + + + + 779 + Reynolds syndrome + + + Preferential parent + + + + + + 81 + Antisynthetase syndrome + + + Preferential parent + + + + + + 482 + Kimura disease + + + Preferential parent + + + + + + 889 + Cutaneous small vessel vasculitis + + + Preferential parent + + + + + + 838 + Susac syndrome + + + Preferential parent + + + + + + 188 + Systemic capillary leak syndrome + + + Preferential parent + + + + + + 658 + Non-histaminic angioedema + + + Preferential parent + + + + + + 728 + Relapsing polychondritis + + + Preferential parent + + + + + + 29207 + Reactive arthritis + + + Preferential parent + + + + + + 32960 + Tumor necrosis factor receptor 1 associated periodic syndrome + + + Preferential parent + + + + + + 35687 + Erdheim-Chester disease + + + Preferential parent + + + + + + 36258 + Buerger disease + + + Preferential parent + + + + + + 36412 + Hypocomplementemic urticarial vasculitis + + + Preferential parent + + + + + + 37748 + Schnitzler syndrome + + + Preferential parent + + + + + + 47045 + Familial cold urticaria + + + Preferential parent + + + + + + 47612 + Felty syndrome + + + Preferential parent + + + + + + 48104 + Pyoderma gangrenosum + + + Preferential parent + + + + + + 48435 + Postinfectious vasculitis + + + Preferential parent + + + + + + 50918 + Kikuchi-Fujimoto disease + + + Preferential parent + + + + + + 52759 + Vasculitis + + + Preferential parent + + + + + + 54251 + Aseptic abscess syndrome + + + Preferential parent + + + + + + 60030 + Loeys-Dietz syndrome + + + Preferential parent + + + + + + 69126 + PAPA syndrome + + + Preferential parent + + + + + + 75392 + Periodontal Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 75496 + B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 75497 + X-linked Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 77297 + Majeed syndrome + + + Preferential parent + + + + + + 79078 + IgG4-related dacryoadenitis and sialadenitis + + + Preferential parent + + + + + + 79099 + Interstitial granulomatous dermatitis with arthritis + + + Preferential parent + + + + + + 85408 + Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis + + + Preferential parent + + + + + + 85410 + Oligoarticular juvenile idiopathic arthritis + + + Preferential parent + + + + + + 85414 + Systemic-onset juvenile idiopathic arthritis + + + Preferential parent + + + + + + 85435 + Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis + + + Preferential parent + + + + + + 85436 + Psoriasis-related juvenile idiopathic arthritis + + + Preferential parent + + + + + + 85438 + Enthesitis-related juvenile idiopathic arthritis + + + Preferential parent + + + + + + 85443 + AL amyloidosis + + + Preferential parent + + + + + + 85445 + AA amyloidosis + + + Preferential parent + + + + + + 85446 + Wild type ABeta2M amyloidosis + + + Preferential parent + + + + + + 85448 + AGel amyloidosis + + + Preferential parent + + + + + + 90002 + Undifferentiated connective tissue syndrome + + + Preferential parent + + + + + + 90051 + Sepsis in premature infants + + + Preferential parent + + + + + + 90291 + Systemic sclerosis + + + Preferential parent + + + + + + 90340 + Blau syndrome + + + Preferential parent + + + + + + 90354 + Brittle cornea syndrome + + + Preferential parent + + + + + + 91138 + Cryoglobulinemic vasculitis + + + Preferential parent + + + + + + 91140 + Unspecified juvenile idiopathic arthritis + + + Preferential parent + + + + + + 91378 + Hereditary angioedema + + + Preferential parent + + + + + + 91385 + Acquired angioedema + + + Preferential parent + + + + + + 93552 + Pediatric systemic lupus erythematosus + + + Preferential parent + + + + + + 93554 + Mixed cryoglobulinemia type II + + + Preferential parent + + + + + + 93555 + Mixed cryoglobulinemia type III + + + Preferential parent + + + + + + 93568 + Juvenile polymyositis + + + Preferential parent + + + + + + 93665 + Autoinflammatory syndrome + + + Preferential parent + + + + + + 93672 + Juvenile dermatomyositis + + + Preferential parent + + + + + + 98249 + Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 100050 + Hereditary angioedema type 1 + + + Preferential parent + + + + + + 100051 + Hereditary angioedema type 2 + + + Preferential parent + + + + + + 100054 + F12-related hereditary angioedema with normal C1Inh + + + Preferential parent + + + + + + 100055 + Acquired angioedema type 2 + + + Preferential parent + + + + + + 100056 + Acquired angioedema type 1 + + + Preferential parent + + + + + + 100057 + Renin-angiotensin-aldosterone system-blocker-induced angioedema + + + Preferential parent + + + + + + 101995 + Periodic fever syndrome + + + Preferential parent + + + + + + 102237 + Unexplained periodic fever syndrome + + + Preferential parent + + + + + + 137807 + Primary cutaneous amyloidosis + + + Preferential parent + + + + + + 139436 + Multicentric reticulohistiocytosis + + + Preferential parent + + + + + + 156140 + Predominantly large-vessel vasculitis + + + Preferential parent + + + + + + 156143 + Predominantly medium-vessel vasculitis + + + Preferential parent + + + + + + 156146 + Predominantly small-vessel vasculitis + + + Preferential parent + + + + + + 156149 + Immune complex mediated vasculitis + + + Preferential parent + + + + + + 156152 + Anti-neutrophil cytoplasmic antibody-associated vasculitis + + + Preferential parent + + + + + + 157965 + SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 157987 + Non-Langerhans cell histiocytosis + + + Preferential parent + + + + + + 158014 + Rosaï-Dorfman disease + + + Preferential parent + + + + + + 158061 + Macrophage activation syndrome + + + Preferential parent + + + + + + 178311 + Isolated sternocostoclavicular hyperostosis + + + Preferential parent + + + + + + 182222 + Rare systemic disease + + + Preferential parent + + + + + + 182228 + Systemic autoimmune disease + + + Preferential parent + + + + + + 182231 + Rare rheumatologic disease + + + Preferential parent + + + + + + 208650 + NLRP3-associated autoinflammatory disease + + + Preferential parent + + + + + + 209007 + Systemic inflammatory disease associated with an acquired peripheral neuropathy + + + Preferential parent + + + + + + 210115 + Sterile multifocal osteomyelitis with periostitis and pustulosis + + + Preferential parent + + + + + + 220393 + Diffuse cutaneous systemic sclerosis + + + Preferential parent + + + + + + 220402 + Limited cutaneous systemic sclerosis + + + Preferential parent + + + + + + 220407 + Limited systemic sclerosis + + + Preferential parent + + + + + + 228116 + Hughes-Stovin syndrome + + + Preferential parent + + + + + + 230839 + Classical-like Ehlers-Danlos syndrome type 1 + + + Preferential parent + + + + + + 230851 + Cardiac-valvular Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 230857 + Ehlers-Danlos/osteogenesis imperfecta syndrome + + + Preferential parent + + + + + + 231111 + Drug-induced lupus erythematosus + + + Preferential parent + + + + + + 247868 + NLRP12-associated hereditary periodic fever syndrome + + + Preferential parent + + + + + + 251304 + Infantile onset panniculitis with uveitis and systemic granulomatosis + + + Preferential parent + + + + + + 251307 + Idiopathic recurrent pericarditis + + + Preferential parent + + + + + + 251312 + Overlapping connective tissue disease + + + Preferential parent + + + + + + 251325 + Drug-induced vasculitis + + + Preferential parent + + + + + + 251328 + Unclassified vasculitis + + + Preferential parent + + + + + + 251332 + Unexplained long-lasting fever/inflammatory syndrome + + + Preferential parent + + + + + + 271861 + Hereditary ATTR amyloidosis + + + Preferential parent + + + + + + 271870 + Rare genetic systemic or rheumatologic disease + + + Preferential parent + + + + + + 279947 + Postorgasmic illness syndrome + + + Preferential parent + + + + + + 280062 + Calciphylaxis + + + Preferential parent + + + + + + 280065 + Calciphylaxis cutis + + + Preferential parent + + + + + + 280068 + Visceral calciphylaxis + + + Preferential parent + + + + + + 280342 + Rare systemic or rheumatological disease of childhood + + + Preferential parent + + + + + + 280369 + Rare pediatric vasculitis + + + Preferential parent + + + + + + 280373 + Rare pediatric systemic disease + + + Preferential parent + + + + + + 284227 + TEMPI syndrome + + + Preferential parent + + + + + + 284264 + IgG4-related disease + + + Preferential parent + + + + + + 284963 + Marfan syndrome type 1 + + + Preferential parent + + + + + + 284973 + Marfan syndrome type 2 + + + Preferential parent + + + + + + 284979 + Neonatal Marfan syndrome + + + Preferential parent + + + + + + 284984 + Aneurysm-osteoarthritis syndrome + + + Preferential parent + + + + + + 284993 + Marfan syndrome and Marfan-related disorders + + + Preferential parent + + + + + + 289390 + Primary Sjögren disease + + + Preferential parent + + + + + + 300179 + Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency + + + Preferential parent + + + + + + 300284 + Connective tissue disorder due to lysyl hydroxylase-3 deficiency + + + Preferential parent + + + + + + 300345 + Autosomal systemic lupus erythematosus + + + Preferential parent + + + + + + 300359 + PLCG2-associated antibody deficiency and immune dysregulation + + + Preferential parent + + + + + + 300382 + Progeroid and marfanoid aspect-lipodystrophy syndrome + + + Preferential parent + + + + + + 314652 + Variant ABeta2M amyloidosis + + + Preferential parent + + + + + + 314701 + Primary systemic amyloidosis + + + Preferential parent + + + + + + 314709 + Primary localized amyloidosis + + + Preferential parent + + + + + + 319719 + Autoinflammatory syndrome of childhood + + + Preferential parent + + + + + + 324924 + Hereditary periodic fever syndrome + + + Preferential parent + + + + + + 324927 + Pyogenic autoinflammatory syndrome + + + Preferential parent + + + + + + 324930 + Granulomatous autoinflammatory syndrome + + + Preferential parent + + + + + + 324933 + Mixed autoinflammatory and autoimmune syndrome + + + Preferential parent + + + + + + 324936 + Unclassified autoinflammatory syndrome + + + Preferential parent + + + + + + 324939 + Periodic fever syndrome of childhood + + + Preferential parent + + + + + + 324942 + Pyogenic autoinflammatory syndrome of childhood + + + Preferential parent + + + + + + 324950 + Granulomatous autoinflammatory syndrome of childhood + + + Preferential parent + + + + + + 324953 + Unclassified autoinflammatory syndrome of childhood + + + Preferential parent + + + + + + 324960 + Unexplained periodic fever syndrome of childhood + + + Preferential parent + + + + + + 324964 + Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis + + + Preferential parent + + + + + + 324972 + MAGIC syndrome + + + Preferential parent + + + + + + 324977 + Proteasome-associated autoinflammatory syndrome + + + Preferential parent + + + + + + 329967 + Intermittent hydrarthrosis + + + Preferential parent + + + + + + 330001 + Wild type ATTR amyloidosis + + + Preferential parent + + + + + + 371428 + Multicentric osteolysis-nodulosis-arthropathy spectrum + + + Preferential parent + + + + + + 398091 + Secondary neonatal autoimmune disease + + + Preferential parent + + + + + + 398097 + Neonatal antiphospholipid syndrome + + + Preferential parent + + + + + + 398109 + Neonatal autoimmune hemolytic anemia + + + Preferential parent + + + + + + 398117 + Neonatal dermatomyositis + + + Preferential parent + + + + + + 398124 + Neonatal lupus erythematosus + + + Preferential parent + + + + + + 398127 + Neonatal scleroderma + + + Preferential parent + + + + + + 401945 + Moyamoya disease with early-onset achalasia + + + Preferential parent + + + + + + 404546 + DITRA + + + Preferential parent + + + + + + 404580 + Polyarticular juvenile idiopathic arthritis + + + Preferential parent + + + + + + 425120 + STING-associated vasculopathy with onset in infancy + + + Preferential parent + + + + + + 436166 + Periodic fever-infantile enterocolitis-autoinflammatory syndrome + + + Preferential parent + + + + + + 439224 + ALECT2 amyloidosis + + + Preferential parent + + + + + + 439246 + ABeta2M amyloidosis + + + Preferential parent + + + + + + 439729 + Cutaneous polyarteritis nodosa + + + Preferential parent + + + + + + 439737 + Primary polyarteritis nodosa + + + Preferential parent + + + + + + 439746 + Secondary polyarteritis nodosa + + + Preferential parent + + + + + + 439755 + Single-organ polyarteritis nodosa + + + Preferential parent + + + + + + 439762 + Systemic polyarteritis nodosa + + + Preferential parent + + + + + + 442582 + AH amyloidosis + + + Preferential parent + + + + + + 444092 + Autoimmune interstitial lung disease-arthritis syndrome + + + Preferential parent + + + + + + 444116 + Hereditary amyloidosis + + + Preferential parent + + + + + + 444463 + Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency + + + Preferential parent + + + + + + 445197 + Secondary vasculitis + + + Preferential parent + + + + + + 449566 + Eosinophilic angiocentric fibrosis + + + Preferential parent + + + + + + 457077 + TAFRO syndrome + + + Preferential parent + + + + + + 464343 + Catastrophic antiphospholipid syndrome + + + Preferential parent + + + + + + 477647 + Type 1 interferonopathy + + + Preferential parent + + + + + + 477650 + Fibroblastic rheumatism + + + Preferential parent + + + + + + 481671 + Type 1 interferonopathy of childhood + + + Preferential parent + + + + + + 486955 + Rare pediatric rheumatologic disease + + + Preferential parent + + + + + + 500062 + Infantile-onset periodic fever-panniculitis-dermatosis syndrome + + + Preferential parent + + + + + + 521450 + LAMA5-related multisystemic syndrome + + + Preferential parent + + + + + + 528623 + Hereditary angioedema with C1Inh deficiency + + + Preferential parent + + + + + + 528647 + Hereditary angioedema with normal C1Inh + + + Preferential parent + + + + + + 528663 + Acquired angioedema with C1Inh deficiency + + + Preferential parent + + + + + + 536467 + B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 536471 + Spondylodysplastic Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 536516 + Myopathic Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 536532 + Classical-like Ehlers-Danlos syndrome type 2 + + + Preferential parent + + + + + + 536545 + Kyphoscoliotic Ehlers-Danlos syndrome + + + Preferential parent + + + + + + 537072 + PLG-related hereditary angioedema with normal C1Inh + + + Preferential parent + + + + + + 542323 + CAR T cell therapy-associated cytokine release syndrome + + + Preferential parent + + + + + + 566067 + CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome + + + Preferential parent + + + + + + 567554 + Systemic disease with glomerulopathy as a major feature + + + Preferential parent + + + + + + 567556 + Genetic systemic disease with glomerulopathy as a major feature + + + Preferential parent + + + + + + 567558 + Non-genetic systemic disease with glomerulopathy as a major feature + + + Preferential parent + + + + + + 567560 + Systemic vasculitis associated with glomerulopathy + + + Preferential parent + + + + + + 576349 + NLRC4-related familial cold autoinflammatory syndrome + + + Preferential parent + + + + + + 596448 + IgG4-related systemic disease + + + Preferential parent + + + + + + 596753 + VEXAS syndrome + + + Preferential parent + + + + + + 598363 + Multisystem inflammatory syndrome in children and adults + + + Preferential parent + + + + + + 599418 + Hereditary angioedema with normal C1Inh not related to F12 or PLG variant + + + Preferential parent + + + + + + 617919 + F12-associated cold autoinflammatory syndrome + + + Preferential parent + + + + + + 619238 + Rare hereditary autoinflammatory disease + + + Preferential parent + + + + + + 619249 + Rare hereditary connective tissue disease + + + Preferential parent + + + + + + 619363 + NOCARH syndrome + + + Preferential parent + + + + + + 619367 + SAMD9L-associated autoinflammatory syndrome + + + Preferential parent + + + + + + 622720 + Genetic autoinflammatory syndrome with skin involvement + + + Preferential parent + + + + + + 636941 + Vascular Ehlers-Danlos-polymicrogyria syndrome + + + Preferential parent + + + + + + 641380 + PAPASH syndrome + + + Preferential parent + + + + + + 641385 + PASS syndrome + + + Preferential parent + + + + + + 641390 + PsAPASH syndrome + + + Preferential parent + + + + + + 645613 + Classical dermatomyositis + + + Preferential parent + + + + + + 645617 + Amyopathic dermatomyositis + + + Preferential parent + + + + + + 645626 + Adermatopathic dermatomyositis + + + Preferential parent + + + + + + 652510 + Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa + + + Preferential parent + + + + + + 652522 + Periodic fever-immunodeficiency-thrombocytopenia syndrome + + + Preferential parent + + + + + + 653434 + Autoinflammatory syndrome with acne and/or hidradenitis suppurativa + + + Preferential parent + + + + + + 658584 + Rowell syndrome + + + Preferential parent + + + + + + 662255 + Grisel syndrome + + + Preferential parent + + + + + + 674762 + Early-onset autoinflammatory syndrome due to A20 haploinsufficiency + + + Preferential parent + + + + + + 687730 + Unifocal Langerhans cell histiocytosis + + + Preferential parent + + + + + + 687733 + Pulmonary Langerhans cell histiocytosis + + + Preferential parent + + + + + + 687738 + Single-system multifocal Langerhans cell histiocytosis + + + Preferential parent + + + + + + 687741 + Multisystem Langerhans cell histiocytosis + + + Preferential parent + + + + + + 699605 + NEMO deleted exon 5 autoinflammatory syndrome + + + Preferential parent + + + + + + 98022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98022 + Rare headache + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98027 + Rare disease with odontological manifestation + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 98026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98026 + Rare odontologic disease + + + + + 1077 + Dental ankylosis + + + Preferential parent + + + + + + 1653 + Dentin dysplasia + + + Preferential parent + + + + + + 2024 + Hereditary gingival fibromatosis + + + Preferential parent + + + + + + 2287 + Fused mandibular incisors + + + Preferential parent + + + + + + 49042 + Dentinogenesis imperfecta + + + Preferential parent + + + + + + 67039 + Segmental odontomaxillary dysplasia + + + Preferential parent + + + + + + 77830 + Rare genetic odontologic disease + + + Preferential parent + + + + + + 83450 + Regional odontodysplasia + + + Preferential parent + + + + + + 83451 + Florid cemento-osseous dysplasia + + + Preferential parent + + + + + + 88661 + Amelogenesis imperfecta + + + Preferential parent + + + + + + 98027 + Rare disease with odontological manifestation + + + Preferential parent + + + + + + 99789 + Dentin dysplasia type I + + + Preferential parent + + + + + + 99791 + Dentin dysplasia type II + + + Preferential parent + + + + + + 99792 + Dentin dysplasia-sclerotic bones syndrome + + + Preferential parent + + + + + + 99797 + Anodontia + + + Preferential parent + + + + + + 99798 + Oligodontia + + + Preferential parent + + + + + + 100031 + Hypoplastic amelogenesis imperfecta + + + Preferential parent + + + + + + 100032 + Hypocalcified amelogenesis imperfecta + + + Preferential parent + + + + + + 100033 + Hypomaturation amelogenesis imperfecta + + + Preferential parent + + + + + + 100034 + Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism + + + Preferential parent + + + + + + 164001 + Rare odontal or periodontal disorder + + + Preferential parent + + + + + + 166260 + Dentinogenesis imperfecta type 2 + + + Preferential parent + + + + + + 166265 + Dentinogenesis imperfecta type 3 + + + Preferential parent + + + + + + 167759 + Hereditary dentin defect + + + Preferential parent + + + + + + 167762 + Rare disease with dentinogenesis imperfecta + + + Preferential parent + + + + + + 314425 + Rare odontogenic tumor + + + Preferential parent + + + + + + 314721 + Atypical dentin dysplasia due to SMOC2 deficiency + + + Preferential parent + + + + + + 412206 + Primary failure of tooth eruption + + + Preferential parent + + + + + + 420755 + Rare genetic odontal or periodontal disorder + + + Preferential parent + + + + + + 447777 + Keratocystic odontogenic tumor + + + Preferential parent + + + + + + 689430 + Adenoid ameloblastoma + + + Preferential parent + + + + + + 98028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98028 + Rare circulatory system disease + + + + + 86 + Familial abdominal aortic aneurysm + + + Preferential parent + + + + + + 1682 + Arterial dissection-lentiginosis syndrome + + + Preferential parent + + + + + + 3018 + Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome + + + Preferential parent + + + + + + 3342 + Arterial tortuosity syndrome + + + Preferential parent + + + + + + 1192 + Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome + + + Preferential parent + + + + + + 229 + Familial aortic dissection + + + Preferential parent + + + + + + 1063 + Tufted angioma + + + Preferential parent + + + + + + 2122 + Kaposiform hemangioendothelioma + + + Preferential parent + + + + + + 26137 + Juvenile temporal arteritis + + + Preferential parent + + + + + + 68362 + Rare vascular disease + + + Preferential parent + + + + + + 68419 + Rare vascular anomaly + + + Preferential parent + + + + + + 51608 + Generalized arterial calcification of infancy + + + Preferential parent + + + + + + 90064 + Acute peripheral arterial occlusion + + + Preferential parent + + + + + + 211237 + Rare vascular tumor + + + Preferential parent + + + + + + 211252 + Slow-flow malformation, venous type + + + Preferential parent + + + + + + 211255 + Slow-flow malformation, lymphatic type + + + Preferential parent + + + + + + 211266 + Fast-flow vascular malformation + + + Preferential parent + + + + + + 233655 + Rare genetic vascular disease + + + Preferential parent + + + + + + 285014 + Rare disease with thoracic aortic aneurysm and aortic dissection + + + Preferential parent + + + + + + 289601 + Hereditary arterial and articular multiple calcification syndrome + + + Preferential parent + + + + + + 314718 + Lethal arteriopathy syndrome due to fibulin-4 deficiency + + + Preferential parent + + + + + + 329217 + Cerebral sinovenous thrombosis + + + Preferential parent + + + + + + 353334 + Congenital retinal arteriovenous communication + + + Preferential parent + + + + + + 404463 + Multisystemic smooth muscle dysfunction syndrome + + + Preferential parent + + + + + + 404553 + Deficiency of adenosine deaminase 2 + + + Preferential parent + + + + + + 458837 + Rare combined vascular malformation + + + Preferential parent + + + + + + 459543 + Rare genetic vascular tumor + + + Preferential parent + + + + + + 464318 + Verrucous hemangioma + + + Preferential parent + + + + + + 496924 + Non-inflammatory vasculopathy + + + Preferential parent + + + + + + 641829 + Neonatal compartment syndrome + + + Preferential parent + + + + + + 645350 + Segmental arterial mediolysis + + + Preferential parent + + + + + + 673466 + Malignant vascular tumor + + + Preferential parent + + + + + + 673470 + Benign vascular tumor + + + Preferential parent + + + + + + 673473 + Borderline vascular tumor + + + Preferential parent + + + + + + 675362 + Hobnail hemangioma + + + Preferential parent + + + + + + 675369 + Microvenular haemangioma + + + Preferential parent + + + + + + 675404 + May-Thurner syndrome + + + Preferential parent + + + + + + 675597 + Acquired elastotic haemangioma + + + Preferential parent + + + + + + 698012 + Fibromuscular dysplasia + + + Preferential parent + + + + + + 698036 + Fibromuscular dysplasia of the cervical and intracranial arteries + + + Preferential parent + + + + + + 698043 + Fibromuscular dysplasia of the renal arteries + + + Preferential parent + + + + + + 698059 + Fibromuscular dysplasia of the coronary arteries + + + Preferential parent + + + + + + 698063 + Fibromuscular dysplasia of the visceral arteries + + + Preferential parent + + + + + + 698069 + Fibromuscular dysplasia of the arteries of the extremities + + + Preferential parent + + + + + + 708007 + Intramuscular fast-flow vascular anomaly + + + Preferential parent + + + + + + 708051 + Peripheral congenital arteriovenous fistula + + + Preferential parent + + + + + + 714698 + Arteriovenous malformation of the thoraco-abdominal-pelvic cavity + + + Preferential parent + + + + + + 714734 + Sinus pericranii + + + Preferential parent + + + + + + 715025 + Spinal fast-flow vascular malformation + + + Preferential parent + + + + + + 715292 + Brain pial arteriovenous fistula + + + Preferential parent + + + + + + 715302 + Spinal pial arteriovenous fistula + + + Preferential parent + + + + + + 715307 + Acquired spinal dural arteriovenous fistula + + + Preferential parent + + + + + + 715318 + Acquired intracranial dural arteriovenous fistula + + + Preferential parent + + + + + + 715334 + Unifocal peripheral venous malformation + + + Preferential parent + + + + + + 715359 + Isolated low resistance capillary malformation + + + Preferential parent + + + + + + 715453 + Reticulated capillary malformation + + + Preferential parent + + + + + + 715463 + Low resistance capillary malformation + + + Preferential parent + + + + + + 715466 + Syndromic low resistance capillary malformation + + + Preferential parent + + + + + + 715744 + Fast-flow vascular malformation of the central nervous system + + + Preferential parent + + + + + + 715750 + Intracranial fast-flow vascular malformation + + + Preferential parent + + + + + + 715757 + Metameric fast-flow vascular malformation + + + Preferential parent + + + + + + 715762 + Unifocal fast-flow vascular malformation + + + Preferential parent + + + + + + 717582 + Coagulation abnormality associated with a vascular anomaly + + + Preferential parent + + + + + + 97678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678 + Maternal uniparental disomy of chromosome 13 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598 + Congenital renal artery stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 97593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593 + Pseudohypoparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 97567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97567 + Immunotactoid glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 97564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97564 + Pauci-immune glomerulonephritis without ANCA + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 97566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97566 + Non-amyloid fibrillary glomerulopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 97563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97563 + Pauci-immune glomerulonephritis with ANCA + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 97935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97935 + Rare gastroenterologic disease + + + + + 733 + Familial adenomatous polyposis + + + Preferential parent + + + + + + 2869 + Peutz-Jeghers syndrome + + + Preferential parent + + + + + + 930 + Idiopathic achalasia + + + Preferential parent + + + + + + 388 + Hirschsprung disease + + + Preferential parent + + + + + + 2494 + Ménétrier disease + + + Preferential parent + + + + + + 2070 + Eosinophilic gastroenteritis + + + Preferential parent + + + + + + 2929 + Juvenile polyposis syndrome + + + Preferential parent + + + + + + 676 + Autosomal dominant hereditary chronic pancreatitis + + + Preferential parent + + + + + + 1876 + Oculogastrointestinal muscular dystrophy + + + Preferential parent + + + + + + 2604 + Familial visceral myopathy + + + Preferential parent + + + + + + 2290 + Microvillus inclusion disease + + + Preferential parent + + + + + + 2575 + Cystic fibrosis-gastritis-megaloblastic anemia syndrome + + + Preferential parent + + + + + + 2881 + Cutaneous photosensitivity-lethal colitis syndrome + + + Preferential parent + + + + + + 2978 + Chronic intestinal pseudoobstruction syndrome + + + Preferential parent + + + + + + 1459 + Celiac disease-epilepsy-cerebral calcification syndrome + + + Preferential parent + + + + + + 556 + Malakoplakia + + + Preferential parent + + + + + + 1670 + Chronic diarrhea with villous atrophy + + + Preferential parent + + + + + + 35122 + Congenital sucrase-isomaltase deficiency + + + Preferential parent + + + + + + 35710 + Glucose-galactose malabsorption + + + Preferential parent + + + + + + 36204 + Intestinal lymphangiectasia + + + Preferential parent + + + + + + 53689 + Congenital chloride diarrhea + + + Preferential parent + + + + + + 53690 + Congenital lactase deficiency + + + Preferential parent + + + + + + 70475 + Radiation proctitis + + + Preferential parent + + + + + + 73014 + Intractable diarrhea of infancy + + + Preferential parent + + + + + + 79076 + Juvenile polyposis of infancy + + + Preferential parent + + + + + + 83620 + Enteric anendocrinosis + + + Preferential parent + + + + + + 84064 + Trichohepatoenteric syndrome + + + Preferential parent + + + + + + 84065 + Idiopathic malabsorption due to bile acid synthesis defects + + + Preferential parent + + + + + + 90362 + Primary intestinal lymphangiectasia + + + Preferential parent + + + + + + 90363 + Secondary intestinal lymphangiectasia + + + Preferential parent + + + + + + 92050 + Congenital 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Preferential parent + + + + + + 54 + X-linked recessive ocular albinism + + + Preferential parent + + + + + + 791 + Retinitis pigmentosa + + + Preferential parent + + + + + + 2334 + Autosomal dominant keratitis + + + Preferential parent + + + + + + 1482 + Gonococcal conjunctivitis + + + Preferential parent + + + + + + 180 + Choroideremia + + + Preferential parent + + + + + + 215 + Congenital stationary night blindness + + + Preferential parent + + + + + + 233 + Duane retraction syndrome + + + Preferential parent + + + + + + 1021 + Amaurosis-hypertrichosis syndrome + + + Preferential parent + + + + + + 1125 + Ocular motor apraxia, Cogan type + + + Preferential parent + + + + + + 1215 + Autosomal dominant optic atrophy plus syndrome + + + Preferential parent + + + + + + 163 + Hereditary hyperferritinemia-cataract syndrome + + + Preferential parent + + + + + + 1573 + Hypotrichosis with juvenile macular degeneration + + + Preferential parent + + + + + + 1574 + Retinal degeneration-nanophthalmos-glaucoma syndrome + + + Preferential parent + + + + + + 1661 + X-linked corneal dermoid + + + Preferential parent + + + + + + 1871 + Progressive cone dystrophy + + + Preferential parent + + + + + + 1872 + Cone rod dystrophy + + + Preferential parent + + + + + + 2085 + Glaucoma-sleep apnea syndrome + + + Preferential parent + + + + + + 2235 + Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome + + + Preferential parent + + + + + + 2518 + Autosomal recessive chorioretinopathy-microcephaly syndrome + + + Preferential parent + + + + + + 2989 + Familial pterygium of the conjunctiva + + + Preferential parent + + + + + + 2997 + Ptosis-vocal cord paralysis syndrome + + + Preferential parent + + + + + + 2999 + Ptosis-strabismus-ectopic pupils syndrome + + + Preferential parent + + + + + + 3086 + Autosomal dominant vitreoretinochoroidopathy + + + Preferential parent + + + + + + 3177 + Spinocerebellar degeneration-corneal dystrophy syndrome + + + Preferential parent + + + + + + 3374 + Unilateral ocular duplication + + + Preferential parent + + + + + + 1884 + Ectopia lentis-chorioretinal dystrophy-myopia syndrome + + + Preferential parent + + + + + + 65 + Leber congenital amaurosis + + + Preferential parent + + + + + + 414 + Gyrate atrophy of choroid and retina + + + Preferential parent + + + + + + 179 + Birdshot chorioretinopathy + + + Preferential parent + + + + + + 359 + Pediatric-onset glaucoma of genetic origin + + + Preferential parent + + + + + + 2542 + Isolated microphthalmia-anophthalmia-coloboma + + + Preferential parent + + + + + + 1243 + Best vitelliform macular dystrophy + + + Preferential parent + + + + + + 891 + Familial exudative vitreoretinopathy + + + Preferential parent + + + + + + 162 + Congenital cataract-anterior segment dysgenesis syndrome + + + Preferential parent + + + + + + 34533 + Corneal dystrophy + + + Preferential parent + + + + + + 35686 + Serpiginous choroiditis + + + Preferential parent + + + + + + 40923 + Eales disease + + + Preferential parent + + + + + + 41751 + Bietti crystalline dystrophy + + + Preferential parent + + + + + + 45358 + Congenital fibrosis of extraocular muscles + + + Preferential parent + + + + + + 49382 + Achromatopsia + + + Preferential parent + + + + + + 52427 + Retinitis punctata albescens + + + Preferential parent + + + + + + 53691 + Congenital cornea plana + + + Preferential parent + + + + + + 59181 + Sorsby fundus dystrophy + + + Preferential parent + + + + + + 63454 + Pattern dystrophy + + + Preferential parent + + + + + + 64686 + Tolosa-Hunt syndrome + + + Preferential parent + + + + + + 64734 + Iridocorneal endothelial syndrome + + + Preferential parent + + + + + + 67036 + Autosomal dominant optic atrophy and cataract + + + Preferential parent + + + + + + 67042 + Late-onset retinal degeneration + + + Preferential parent + + + + + + 69736 + Bilateral acute depigmentation of the iris + + + Preferential parent + + + + + + 70476 + Vernal keratoconjunctivitis + + 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+ + + Preferential parent + + + + + + 86813 + Helicoid peripapillary chorioretinal degeneration + + + Preferential parent + + + + + + 86815 + Aplasia of lacrimal and salivary glands + + + Preferential parent + + + + + + 88629 + Tritanopia + + + Preferential parent + + + + + + 88633 + Superior limbic keratoconjunctivitis + + + Preferential parent + + + + + + 90001 + X-linked cone dysfunction syndrome with myopia + + + Preferential parent + + + + + + 90050 + Retinopathy of prematurity + + + Preferential parent + + + + + + 90061 + Non-infectious posterior uveitis + + + Preferential parent + + + + + + 90080 + Scarring in glaucoma filtration surgical procedures + + + Preferential parent + + + + + + 91411 + Congenital ptosis + + + Preferential parent + + + + + + 91412 + Marcus-Gunn syndrome + + + Preferential parent + + + + + + 91413 + Congenital Horner syndrome + + + Preferential parent + + + + + + 91481 + Ring dermoid of cornea + + + Preferential parent + + + + + + 91492 + Early onset non-syndromic cataract + + + Preferential parent + + + + + + 91495 + Persistent hyperplastic primary vitreous + + + Preferential parent + + + + + + 91496 + Snowflake vitreoretinal degeneration + + + Preferential parent + + + + + + 91498 + Familial congenital palsy of trochlear nerve + + + Preferential parent + + + + + + 94058 + Neovascular glaucoma + + + Preferential parent + + + + + + 97341 + Persistent placoid maculopathy + + + Preferential parent + + + + + + 98571 + Secondary ectropion + + + Preferential parent + + + + + + 98578 + Rare disorder with ptosis + + + Preferential parent + + + + + + 98602 + Rare disorder of the lacrimal apparatus + + + Preferential parent + + + + + + 98604 + Congenital alacrima + + + Preferential parent + + + + + + 98605 + Lacrimal drainage system anomaly + + + Preferential parent + + + + + + 98606 + Syndromic orbital border hypoplasia + + + Preferential parent + + + + + + 98610 + Rare disorder with conjunctival involvement as a major feature + + + Preferential parent + + + + + + 98618 + Rare refraction anomaly + + + Preferential parent + + + + + + 98619 + Rare isolated myopia + + + Preferential parent + + + + + + 98621 + Rare hyperopia and astigmatism + + + Preferential parent + + + + + + 98622 + Syndromic hyperopia + + + Preferential parent + + + + + + 98623 + Syndromic keratoconus + + + Preferential parent + + + + + + 98625 + Superficial corneal dystrophy + + + Preferential parent + + + + + + 98626 + Stromal corneal dystrophy + + + Preferential parent + + + + + + 98627 + Posterior corneal dystrophy + + + Preferential parent + + + + + + 98628 + Syndromic corneal dystrophy + + + Preferential parent + + + + + + 98638 + Rare disease with glaucoma as a major feature + + + Preferential parent + + + + + + 98639 + Rare lens disease + + + Preferential parent + + + + + + 98640 + Rare disorder with lens opacification + + + Preferential parent + + + + + + 98641 + Syndromic cataract + + + Preferential parent + + + + + + 98642 + Chromosomal anomaly with cataract + + + Preferential parent + + + + + + 98644 + Metabolic disease with cataract + + + Preferential parent + + + + + + 98646 + Renal disease with cataract + + + Preferential parent + + + + + + 98648 + Musculoskeletal disease with cataract + + + Preferential parent + + + + + + 98649 + Dentocutaneous disease with cataract + + + Preferential parent + + + + + + 98650 + Craniofacial anomaly with cataract + + + Preferential parent + + + + + + 98653 + Lens position anomaly + + + Preferential parent + + + + + + 98658 + Color-vision disease + + + Preferential parent + + + + + + 98668 + Vitreoretinopathy + + + Preferential parent + + + + + + 98671 + Hereditary optic neuropathy + + + Preferential parent + + + + + + 98672 + Autosomal dominant optic atrophy + + + Preferential parent + + + + + + 98673 + Autosomal dominant optic atrophy, classic form + + + Preferential parent + + + + + + 98676 + Autosomal recessive isolated optic atrophy + + + Preferential parent + + + + + + 98681 + Rare disorder with strabismus + + + Preferential parent + + + + + + 98683 + Syndromic disorder with strabismus + + + Preferential parent + + + + + + 98684 + Craniostenosis with strabismus + + + Preferential parent + + + + + + 98685 + Rare oculomotor nerve disorder + + + Preferential parent + + + + + + 98686 + Congenital trochlear nerve palsy + + + Preferential parent + + + + + + 98687 + Supranuclear eye movement disorder + + + Preferential parent + + + + + + 98688 + Oculomotor apraxia + + + Preferential parent + + + + + + 98706 + Oculocutaneous or ocular albinism + + + Preferential parent + + + + + + 98715 + Uveitis + + + Preferential parent + + + + + + 98951 + Inverse Marcus-Gunn phenomenon + + + Preferential parent + + + + + + 98954 + Meesmann corneal dystrophy + + + Preferential parent + + + + + + 98955 + Lisch epithelial corneal dystrophy + + + Preferential parent + + + + + + 98956 + Epithelial basement membrane dystrophy + + + Preferential parent + + + + + + 98957 + Gelatinous drop-like corneal dystrophy + + + Preferential parent + + + + + + 98958 + Climatic droplet keratopathy + + + Preferential parent + + + + + + 98959 + Subepithelial mucinous corneal dystrophy + + + Preferential parent + + + + + + 98960 + Thiel-Behnke corneal dystrophy + + + Preferential parent + + + + + + 98961 + Reis-Bücklers corneal dystrophy + + + Preferential parent + + + + + + 98962 + Granular corneal dystrophy type I + + + Preferential parent + + + + + + 98963 + Granular corneal dystrophy type II + + + Preferential parent + + + + + + 98964 + Lattice corneal dystrophy type I + + + Preferential parent + + + + + + 98967 + Schnyder corneal dystrophy + + + Preferential parent + + + + + + 98969 + Macular corneal dystrophy + + + Preferential parent + + + + + + 98970 + Fleck corneal dystrophy + + + Preferential parent + + + + + + 98971 + Posterior amorphous corneal dystrophy + + + Preferential parent + + + + + + 98972 + Central cloudy dystrophy of François + + + Preferential parent + + + + + + 98973 + Posterior polymorphous corneal dystrophy + + + Preferential parent + + + + + + 98974 + Fuchs endothelial corneal dystrophy + + + Preferential parent + + + + + + 98976 + Congenital glaucoma + + + Preferential parent + + + + + + 98977 + Juvenile glaucoma + + + Preferential parent + + + + + + 98979 + Chandler syndrome + + + Preferential parent + + + + + + 98980 + Cogan-Reese syndrome + + + Preferential parent + + + + + + 98981 + Essential iris atrophy + + + Preferential parent + + + + + + 98984 + Pulverulent cataract + + + Preferential parent + + + + + + 98985 + Early-onset sutural cataract + + + Preferential parent + + + + + + 98988 + Early-onset anterior polar cataract + + + Preferential parent + + + + + + 98989 + Cerulean cataract + + + Preferential parent + + + + + + 98990 + Coralliform cataract + + + Preferential parent + + + + + + 98991 + Early-onset nuclear cataract + + + Preferential parent + + + + + + 98992 + Early-onset partial cataract + + + Preferential parent + + + + + + 98993 + Early-onset posterior polar cataract + + + Preferential parent + + + + + + 98994 + Total early-onset cataract + + + Preferential parent + + + + + + 98995 + Early-onset zonular cataract + + + Preferential parent + + + + + + 99000 + Adult-onset foveomacular vitelliform dystrophy + + + Preferential parent + + + + + + 99001 + Butterfly-shaped pigment dystrophy + + + Preferential parent + + + + + + 99002 + Reticular dystrophy of the retinal pigment epithelium + + + Preferential parent + + + + + + 99003 + Multifocal pattern dystrophy simulating fundus flavimaculatus + + + Preferential parent + + + + + + 99004 + Fundus pulverulentus + + + Preferential parent + + + + + + 99169 + Epiblepharon + + + Preferential parent + + + + + + 99170 + Tarsal kink syndrome + + + Preferential parent + + + + + + 99171 + Isolated congenital ectropion + + + Preferential parent + + + + + + 99172 + Euryblepharon + + + Preferential parent + + + + + + 99176 + Congenital eyelid retraction + + + Preferential parent + + + + + + 99179 + Kandori fleck retina + + + Preferential parent + + + + + + 99718 + Leber plus disease + + + Preferential parent + + + + + + 99922 + Ocular cicatricial pemphigoid + + + Preferential parent + + + + + + 101068 + Congenital stromal corneal dystrophy + + + Preferential parent + + + + + + 101104 + Marin-Amat syndrome + + + Preferential parent + + + + + + 101435 + Rare genetic eye disease + + + Preferential parent + + + + + + 137593 + Infectious epithelial keratitis + + + Preferential parent + + + + + + 137596 + Neurotrophic keratopathy + + + Preferential parent + + + + + + 137599 + Herpes simplex virus stromal keratitis + + + Preferential parent + + + + + + 137602 + Corneal endotheliitis + + + Preferential parent + + + + + + 137672 + Pellucid marginal degeneration + + + Preferential parent + + + + + + 137905 + Syndromic optic nerve hypoplasia + + + Preferential parent + + + + + + 139455 + Autosomal recessive bestrophinopathy + + + Preferential parent + + + + + + 140653 + Neuro-ophthalmological disease + + + Preferential parent + + + + + + 156005 + Primary early-onset glaucoma + + + Preferential parent + + + + + + 156165 + Retinal ciliopathy + + + Preferential parent + + + + + + 156168 + Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene + + + Preferential parent + + + + + + 156171 + Retinal ciliopathy due to mutation in the RPGR gene + + + Preferential parent + + + + + + 156174 + Retinal ciliopathy due to mutation in the RPGRIP gene + + + Preferential parent + + + + + + 156177 + Retinal ciliopathy due to mutation in Usher gene + + + Preferential parent + + + + + + 156180 + Retinal ciliopathy due to mutation in nephronophthisis gene + + + Preferential parent + + + + + + 156183 + Retinal ciliopathy due to mutation in Bardet-Biedl gene + + + Preferential parent + + + + + + 157962 + Oculoauricular syndrome, Schorderet type + + + Preferential parent + + + + + + 163934 + Atopic keratoconjunctivitis + + + Preferential parent + + + + + + 171673 + Limbal stem cell deficiency + + + Preferential parent + + + + + + 178333 + Åland Islands eye disease + + + Preferential parent + + + + + + 183607 + Genetic lens and zonula anomaly + + + Preferential parent + + + + + + 183616 + Genetic neuro-ophthalmological disease + + + Preferential parent + + + + + + 183619 + Genetic eye tumor + + + Preferential parent + + + + + + 199323 + Endophthalmitis + + + Preferential parent + + + + + + 209867 + Autosomal dominant rhegmatogenous retinal detachment + + + Preferential parent + + + + + + 209932 + Cone dystrophy with supernormal rod response + + + Preferential parent + + + + + + 209943 + IRVAN syndrome + + + Preferential parent + + + + + + 209956 + Idiopathic uveal effusion syndrome + + + Preferential parent + + + + + + 209959 + Phacoanaphylactic uveitis + + + Preferential parent + + + + + + 227796 + Fundus albipunctatus + + + Preferential parent + + + + + + 227976 + Autosomal recessive optic atrophy, OPA7 type + + + Preferential parent + + + + + + 228396 + Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome + + + Preferential parent + + + + + + 231736 + Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome + + + Preferential parent + + + + + + 238763 + Glaucoma secondary to spherophakia/ectopia lentis and megalocornea + + + Preferential parent + + + + + + 247834 + Occult macular dystrophy + + + Preferential parent + + + + + + 250932 + Autosomal dominant optic atrophy and peripheral neuropathy + + + Preferential parent + + + + + + 251279 + Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome + + + Preferential parent + + + + + + 251287 + Benign concentric annular macular dystrophy + + + Preferential parent + + + + + + 251295 + Pigmented paravenous retinochoroidal atrophy + + + Preferential parent + + + + + + 263347 + MRCS syndrome + + + Preferential parent + + + + + + 263479 + Fuchs heterochromic iridocyclitis + + + Preferential parent + + + + + + 279882 + Spasmus nutans + + + Preferential parent + + + + + + 279888 + Acute endophthalmitis + + + Preferential parent + + + + + + 279891 + Chronic endophthalmitis + + + Preferential parent + + + + + + 279894 + Toxic maculopathy due to antimalarial drugs + + + Preferential parent + + + + + + 279914 + Intermediate uveitis + + + Preferential parent + + + + + + 279919 + Infectious posterior uveitis + + + Preferential parent + + + + + + 279922 + Infectious anterior uveitis + + + Preferential parent + + + + + + 279925 + Infectious panuveitis + + + Preferential parent + + + + + + 279928 + Paraneoplastic uveitis + + + Preferential parent + + + + + + 280886 + Anterior uveitis + + + Preferential parent + + + + + + 280892 + Posterior uveitis + + + Preferential parent + + + + + + 280898 + Panuveitis + + + Preferential parent + + + + + + 280914 + Isolated idiopathic anterior uveitis + + + Preferential parent + + + + + + 280917 + Idiopathic posterior uveitis + + + Preferential parent + + + + + + 280921 + Idiopathic panuveitis + + + Preferential parent + + + + + + 280926 + Systemic diseases with anterior uveitis + + + Preferential parent + + + + + + 280930 + Systemic diseases with posterior uveitis + + + Preferential parent + + + + + + 280933 + Systemic diseases with panuveitis + + + Preferential parent + + + + + + 284247 + Familial retinal arterial macroaneurysm + + + Preferential parent + + + + + + 284454 + Acute zonal occult outer retinopathy + + + Preferential parent + + + + + + 284460 + Acute annular outer retinopathy + + + Preferential parent + + + + + + 284804 + Ocular albinism + + + Preferential parent + + + + + + 284811 + Syndromic oculocutaneous albinism + + + Preferential parent + + + + + + 289499 + Congenital cataract microcornea with corneal opacity + + + Preferential parent + + + + + + 293375 + Grayson-Wilbrandt corneal dystrophy + + + Preferential parent + + + + + + 293381 + Epithelial recurrent erosion dystrophy + + + Preferential parent + + + + + + 293462 + Pre-Descemet corneal dystrophy + + + Preferential parent + + + + + + 293603 + Congenital hereditary endothelial dystrophy type II + + + Preferential parent + + + + + + 293621 + X-linked endothelial corneal dystrophy + + + Preferential parent + + + + + + 293936 + EDICT syndrome + + + Preferential parent + + + + + + 306648 + Non-infectious anterior uveitis + + + Preferential parent + + + + + + 313800 + Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome + + + Preferential parent + + + + + + 314017 + Idiopathic linear interstitial keratitis + + + Preferential parent + + + + + + 319640 + Retinal macular dystrophy type 2 + + + Preferential parent + + + + + + 319667 + Primary lymphoma of the conjunctiva + + + Preferential parent + + + + + + 329211 + Autosomal dominant neovascular inflammatory vitreoretinopathy + + + Preferential parent + + + + + + 352657 + Hereditary benign intraepithelial dyskeratosis + + + Preferential parent + + + + + + 352662 + Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome + + + Preferential parent + + + + + + 352718 + Progressive retinal dystrophy due to retinol transport defect + + + Preferential parent + + + + + + 353344 + Idiopathic macular telangiectasia type 1 + + + Preferential parent + + + + + + 353351 + Idiopathic macular telangiectasia type 3 + + + Preferential parent + + + + + + 353356 + Vasoproliferative tumor of the retina + + + Preferential parent + + + + + + 363989 + Familial benign flecked retina + + + Preferential parent + + + + + + 364055 + Severe early-childhood-onset retinal dystrophy + + + Preferential parent + + + + + + 369970 + Microcornea-myopic chorioretinal atrophy-telecanthus syndrome + + + Preferential parent + + + + + + 397618 + Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome + + + Preferential parent + + + + + + 397758 + Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies + + + Preferential parent + + + + + + 401777 + Optic atrophy-intellectual disability syndrome + + + Preferential parent + + + + + + 411527 + Central retinal vein occlusion + + + Preferential parent + + + + + + 412022 + Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome + + + Preferential parent + + + + + + 420556 + Visual snow syndrome + + + Preferential parent + + + + + + 436245 + Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome + + + Preferential parent + + + + + + 436274 + Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa + + + Preferential parent + + + + + + 440221 + Congenital oculomotor nerve palsy + + + Preferential parent + + + + + + 440233 + Congenital abducens nerve palsy + + + Preferential parent + + + + + + 440727 + Combined hamartoma of the retina and retinal pigment epithelium + + + Preferential parent + + + + + + 441434 + Syndromic hereditary optic neuropathy + + + Preferential parent + + + + + + 441447 + Early-onset posterior subcapsular cataract + + + Preferential parent + + + + + + 441452 + Early-onset lamellar cataract + + + Preferential parent + + + + + + 443079 + Central serous chorioretinopathy + + + Preferential parent + + + + + + 447788 + Cerebral visual impairment + + + Preferential parent + + + + + + 449563 + IgG4-related ophthalmic disease + + + Preferential parent + + + + + + 454718 + Holmes-Adie syndrome + + + Preferential parent + + + + + + 464760 + Familial cavitary optic disc anomaly + + + Preferential parent + + + + + + 466682 + Euthyroid Graves orbitopathy + + + Preferential parent + + + + + + 466718 + Martinique crinkled retinal pigment epitheliopathy + + + Preferential parent + + + + + + 468672 + Colobomatous macrophthalmia-microcornea syndrome + + + Preferential parent + + + + + + 482092 + Rare idiopathic macular telangiectasia + + + Preferential parent + + + + + + 488197 + Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome + + + Preferential parent + + + + + + 488239 + Acute macular neuroretinopathy + + + Preferential parent + + + + + + 499047 + Autoimmune/inflammatory optic neuropathy + + + Preferential parent + + + + + + 499085 + Chronic relapsing inflammatory optic neuritis + + + Preferential parent + + + + + + 499096 + Isolated optic neuritis + + + Preferential parent + + + + + + 499103 + Recurrent idiopathic neuroretinitis + + + Preferential parent + + + + + + 499107 + Idiopathic optic perineuritis + + + Preferential parent + + + + + + 519264 + Inflammatory/autoimmune disorder involving the lacrimal system + + + Preferential parent + + + + + + 519266 + Rare disorder of the ocular adnexa + + + Preferential parent + + + + + + 519268 + Rare disorder with ectropion + + + Preferential parent + + + + + + 519270 + Rare disorder with entropion + + + Preferential parent + + + + + + 519278 + Infective keratitis + + + Preferential parent + + + + + + 519280 + Rare conjunctivitis + + + Preferential parent + + + + + + 519282 + Rare corneal disorder + + + Preferential parent + + + + + + 519284 + Rare disorder of the anterior segment of the eye + + + Preferential parent + + + + + + 519286 + Rare disorder of the pupil + + + Preferential parent + + + + + + 519288 + Rare disorder with corneal involvement as a major feature + + + Preferential parent + + + + + + 519290 + Rare inflammatory/autoimmune corneal disorder + + + Preferential parent + + + + + + 519296 + Rare disorder with pigmented sclera + + + Preferential parent + + + + + + 519309 + Rare choroidal disorder + + + Preferential parent + + + + + + 519311 + Rare disorder of the posterior segment of the eye + + + Preferential parent + + + + + + 519313 + Rare macular disorder + + + Preferential parent + + + + + + 519315 + Rare retinal disorder + + + Preferential parent + + + + + + 519317 + Rare retinal vasculopathy + + + Preferential parent + + + + + + 519329 + Rare disorder involving multiple structures of the eye + + + Preferential parent + + + + + + 519331 + Secondary early-onset glaucoma + + + Preferential parent + + + + + + 519337 + Disorder with optic nerve compression + + + Preferential parent + + + + + + 519339 + Pseudopapilledema + + + Preferential parent + + + + + + 519341 + Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature + + + Preferential parent + + + + + + 519343 + Rare ophthalmic disorder with cortical involvement + + + Preferential parent + + + + + + 519345 + Rare disorder with optic disc malformation + + + Preferential parent + + + + + + 519347 + Rare neuromuscular disorder with ocular motility/alignment anomaly + + + Preferential parent + + + + + + 519349 + Rare ophthalmic disorder with cranial nerve involvement + + + Preferential parent + + + + + + 519351 + Rare optic nerve disorder + + + Preferential parent + + + + + + 519353 + Rare trochlear nerve disorder + + + Preferential parent + + + + + + 519355 + Rare ocular motility/alignment disorder + + + Preferential parent + + + + + + 519384 + Congenital cystic eye + + + Preferential parent + + + + + + 519386 + Isolated congenital entropion + + + Preferential parent + + + + + + 519388 + Autosomal recessive anterior segment dysgenesis + + + Preferential parent + + + + + + 519390 + Isolated blepharochalasis + + + Preferential parent + + + + + + 519392 + Isolated iridoschisis + + + Preferential parent + + + + + + 519396 + Isolated microspherophakia + + + Preferential parent + + + + + + 519398 + Isolated foveal hypoplasia + + + Preferential parent + + + + + + 519400 + Peripapillary staphyloma + + + Preferential parent + + + + + + 519402 + Isolated megalopapilla + + + Preferential parent + + + + + + 519404 + Optic disc pit + + + Preferential parent + + + + + + 519406 + Thygeson superficial punctate keratitis + + + Preferential parent + + + + + + 519408 + Mooren ulcer + + + Preferential parent + + + + + + 519410 + Terrien marginal degeneration + + + Preferential parent + + + + + + 519930 + Fungal keratitis + + + Preferential parent + + + + + + 520814 + Rare disorder of the visual organs + + + Preferential parent + + + + + + 520820 + Progressive external ophthalmoplegia + + + Preferential parent + + + + + + 522504 + Rare genetic disorder of the visual organs + + + Preferential parent + + + + + + 522508 + Rare genetic ophthalmic disorder with cortical involvement + + + Preferential parent + + + + + + 522510 + Rare genetic ophthalmic disorder with cranial nerve involvement + + + Preferential parent + + + + + + 522512 + Rare genetic optic nerve disorder + + + Preferential parent + + + + + + 522514 + Congenital optic disc excavation of genetic origin + + + Preferential parent + + + + + + 522516 + Rare genetic ocular motility/alignment disorder + + + Preferential parent + + + + + + 522518 + Rare genetic disorder with strabismus + + + Preferential parent + + + + + + 522520 + Syndromic genetic disorder with strabismus + + + Preferential parent + + + + + + 522524 + Rare genetic disorder of the ocular adnexa + + + Preferential parent + + + + + + 522528 + Rare genetic eyelid malposition disorder + + + Preferential parent + + + + + + 522530 + Rare genetic disorder with entropion + + + Preferential parent + + + + + + 522532 + Rare genetic disorder of the lacrimal apparatus + + + Preferential parent + + + + + + 522538 + Rare genetic disorder of the anterior segment of the eye + + + Preferential parent + + + + + + 522542 + Rare genetic disorder with conjunctival involvement as a major feature + + + Preferential parent + + + + + + 522546 + Rare genetic disorder with lens opacification + + + Preferential parent + + + + + + 522548 + Syndromic genetic cataract + + + Preferential parent + + + + + + 522552 + Lens position anomaly of genetic origin + + + Preferential parent + + + + + + 522554 + Syndromic genetic ectopia lentis + + + Preferential parent + + + + + + 522556 + Rare genetic corneal disorder + + + Preferential parent + + + + + + 522558 + Rare genetic disorder with corneal involvement as a major feature + + + Preferential parent + + + + + + 522560 + Genetic corneal dystrophy + + + Preferential parent + + + + + + 522562 + Genetic superficial corneal dystrophy + + + Preferential parent + + + + + + 522564 + Syndromic genetic keratoconus + + + Preferential parent + + + + + + 522566 + Rare genetic inflammatory/autoimmune corneal disorder + + + Preferential parent + + + + + + 522568 + Rare genetic disorder of the pupil + + + Preferential parent + + + + + + 522570 + Rare genetic disorder of the posterior segment of the eye + + + Preferential parent + + + + + + 522572 + Rare genetic retinal disorder + + + Preferential parent + + + + + + 522574 + Rare genetic macular disorder + + + Preferential parent + + + + + + 522576 + Rare genetic retinal vasculopathy + + + Preferential parent + + + + + + 522578 + Rare genetic disorder involving multiple structures of the eye + + + Preferential parent + + + + + + 522580 + Secondary early-onset glaucoma of genetic origin + + + Preferential parent + + + + + + 523000 + Pediatric-onset glaucoma + + + Preferential parent + + + + + + 580951 + Punctate inner choroidopathy + + + Preferential parent + + + + + + 617449 + Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome + + + Preferential parent + + + + + + 636950 + Glaucomatocyclitic crisis disease + + + Preferential parent + + + + + + 647815 + Keratitis fugax hereditaria + + + Preferential parent + + + + + + 648559 + Rare scleritis + + + Preferential parent + + + + + + 648665 + Infectious scleritis + + + Preferential parent + + + + + + 648675 + Idiopathic scleritis + + + Preferential parent + + + + + + 648681 + Immune-mediated scleritis + + + Preferential parent + + + + + + 648684 + Central retinal artery occlusion + + + Preferential parent + + + + + + 653709 + Cone rod dystrophy-short stature syndrome + + + Preferential parent + + + + + + 659626 + Single isolated optic neuritis + + + Preferential parent + + + + + + 659634 + Relapsing isolated optic neuritis + + + Preferential parent + + + + + + 674924 + Isolated retinal racemose hemangioma + + + Preferential parent + + + + + + 674930 + Perifoveal exudative vascular anomalous complex + + + Preferential parent + + + + + + 674935 + Torpedo Maculopathy + + + Preferential parent + + + + + + 674943 + Isolated angioid streaks + + + Preferential parent + + + + + + 674947 + Diffuse unilateral subacute neuroretinitis + + + Preferential parent + + + + + + 674953 + Multiple evanescent white dot syndrome + + + Preferential parent + + + + + + 674958 + Stellate multiform amelanotic choroidopathy + + + Preferential parent + + + + + + 674965 + Choroidal osteoma + + + Preferential parent + + + + + + 674968 + Bilateral diffuse uveal melanocytic proliferation disease + + + Preferential parent + + + + + + 714070 + Incomplete congenital stationary night blindness, Schubert-Bornschein type + + + Preferential parent + + + + + + 714079 + Complete congenital stationary night blindness, Schubert-Bornschein type + + + Preferential parent + + + + + + 714090 + Congenital stationary night blindness, Schubert-Bornschein type + + + Preferential parent + + + + + + 714096 + Congenital stationary night blindness, Riggs type + + + Preferential parent + + + + + + 714101 + Acute idiopathic maculopathy + + + Preferential parent + + + + + + 714109 + Ocular siderosis + + + Preferential parent + + + + + + 714138 + Circumscribed choroidal hemangioma + + + Preferential parent + + + + + + 714150 + Stellate non-hereditary idiopathic foveomacular retinoschisis + + + Preferential parent + + + + + + 714154 + Idiopathic multifocal choroiditis + + + Preferential parent + + + + + + 714164 + Acute posterior multifocal placoid pigment epitheliopathy + + + Preferential parent + + + + + + 715845 + Idiopathic Acute exudative polymorphous vitelliform maculopathy + + + Preferential parent + + + + + + 715850 + Paraneoplastic acute exudative polymorphous vitelliform maculopathy + + + Preferential parent + + + + + + 715855 + Acute exudative polymorphous vitelliform maculopathy + + + Preferential parent + + + + + + 715862 + Melanocytoma of the optic disc and optic nerve + + + Preferential parent + + + + + + 716195 + Rare inflammatory choroidal disorder + + + Preferential parent + + + + + + 716198 + Rare paraneoplastic choroidal disorder + + + Preferential parent + + + + + + 716201 + Rare vascular choroidal disorder + + + Preferential parent + + + + + + 716204 + Rare neoplastic choroidal disorder + + + Preferential parent + + + + + + 716207 + Rare benign neoplastic choroidal disorder + + + Preferential parent + + + + + + 716210 + Rare malignant neoplastic choroidal disorder + + + Preferential parent + + + + + + 716213 + Rare isolated developmental choroidal disorder + + + Preferential parent + + + + + + 716290 + Rare predominantly chorioretinal disorder + + + Preferential parent + + + + + + 716293 + Rare non-progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 716296 + Rare isolated non-progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 716299 + Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature + + + Preferential parent + + + + + + 716304 + Rare progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 716342 + Rare disorder with progressive predominantly chorioretinal disorder as a major feature + + + Preferential parent + + + + + + 716348 + Rare isolated progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 716358 + Rare generalized retinal disorder + + + Preferential parent + + + + + + 716361 + Rare progressive generalized retinal disorder + + + Preferential parent + + + + + + 716364 + Rare non-progressive generalized retinal disorder + + + Preferential parent + + + + + + 716367 + Rare isolated non-progressive generalized retinal disorder + + + Preferential parent + + + + + + 716393 + Rare disorder with non-progressive generalized retinal disorder as a major feature + + + Preferential parent + + + + + + 716405 + Rare disorder with progressive generalized retinal disorder as a major feature + + + Preferential parent + + + + + + 716410 + Rare isolated progressive generalized retinal disorder + + + Preferential parent + + + + + + 716413 + Rare non-progressive predominantly macular disorder + + + Preferential parent + + + + + + 716416 + Rare progressive predominantly macular disorder + + + Preferential parent + + + + + + 716419 + Rare isolated non-progressive predominantly macular disorder + + + Preferential parent + + + + + + 716422 + Rare disorder with non-progressive predominantly macular disorder as a major feature + + + Preferential parent + + + + + + 716427 + Rare disorder with progressive predominantly macular disorder as a major feature + + + Preferential parent + + + + + + 716432 + Rare isolated progressive predominantly macular disorder + + + Preferential parent + + + + + + 716435 + Rare non-progressive vitreoretinopathy + + + Preferential parent + + + + + + 716438 + Rare progressive vitreoretinopathy + + + Preferential parent + + + + + + 716441 + Rare isolated progressive vitreoretinopathy + + + Preferential parent + + + + + + 716446 + Rare disorder with progressive vitreoretinopathy disorder as a major feature + + + Preferential parent + + + + + + 716450 + Rare non-progressive retinal vasculopathy + + + Preferential parent + + + + + + 716455 + Rare progressive retinal vasculopathy + + + Preferential parent + + + + + + 716459 + Rare disorder with progressive retinal vasculopathy as a major feature + + + Preferential parent + + + + + + 716466 + Rare isolated progressive retinal vasculopathy + + + Preferential parent + + + + + + 717257 + Rare genetic predominantly chorioretinal disorder + + + Preferential parent + + + + + + 717260 + Rare genetic generalized retinal disorder + + + Preferential parent + + + + + + 717308 + Rare genetic non-progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 717311 + Rare genetic isolated non-progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 717314 + Rare genetic progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 717317 + Rare genetic isolated progressive predominantly chorioretinal disorder + + + Preferential parent + + + + + + 717321 + Rare genetic progressive generalized retinal disorder + + + Preferential parent + + + + + + 717324 + Rare genetic isolated progressive generalized retinal disorder + + + Preferential parent + + + + + + 717327 + Rare genetic non-progressive predominantly macular disorder + + + Preferential parent + + + + + + 717330 + Rare genetic isolated non-progressive predominantly macular disorder + + + Preferential parent + + + + + + 717333 + Rare genetic progressive predominantly macular disorder + + + Preferential parent + + + + + + 717336 + Rare genetic isolated progressive predominantly macular disorder + + + Preferential parent + + + + + + 717339 + Rare genetic non-progressive retinal vasculopathy + + + Preferential parent + + + + + + 717342 + Rare genetic progressive retinal vasculopathy + + + Preferential parent + + + + + + 717345 + Rare genetic isolated progressive retinal vasculopathy + + + Preferential parent + + + + + + 717348 + Rare genetic disorder with progressive vasculopathy disorder as a major feature + + + Preferential parent + + + + + + 97962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97962 + Rare surgical thoracic disease + + + + + 97330 + Thoracic outlet syndrome + + + Preferential parent + + + + + + 100073 + Neurogenic thoracic outlet syndrome + + + Preferential parent + + + + + + 357107 + Arterial thoracic outlet syndrome + + + Preferential parent + + + + + + 357131 + Venous thoracic outlet syndrome + + + Preferential parent + + + + + + 97965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97965 + Rare surgical cardiac disease + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 448270 + Ectopia cordis + + + Preferential parent + + + + + + 97957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97957 + Respiratory or thoracic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707 + Idiopathic isolated micropenis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95708 + Rare precocious puberty + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 + Non-syndromic posterior hypospadias + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 + X-linked adrenal hypoplasia congenita + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715 + Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 + Familial thyroid dyshormonogenesis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713 + Athyreosis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714 + Primary congenital hypothyroidism without thyroid developmental anomaly + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711 + Congenital hypothyroidism due to developmental anomaly + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712 + Thyroid ectopia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95709 + Rare acquired premature ovarian failure + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95710 + Rare non-acquired premature ovarian failure + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95619 + Post-traumatic pituitary deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95618 + Pituitary hormone deficiency secondary to storage disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95617 + Pituitary hormone deficiency secondary to a granulomatous disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95613 + Pituitary apoplexy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95700 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 + Familial adrenal hypoplasia with absent pituitary luteinizing hormone + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 + Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95626 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626 + Acquired arginine vasopressin deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95505 + Pituitary hormone deficiency of meningeal origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95506 + Primary hypophysitis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 + Congenital anomaly of hepatic vein + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500 + Congenital anomaly of the coronary sinus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95502 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95502 + Acquired pituitary hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95503 + Pituitary hormone deficiency of tumoral origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95512 + Adenohypophysitis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95513 + Panhypophysitis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95611 + Pituitary hormone deficiency of vascular origin + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95510 + Atrial appendage anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488 + Non-acquired pituitary hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95491 + Congenital coronary artery aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485 + Arterial duct anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486 + Premature closure of the arterial duct + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 + Pituitary stalk interruption syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499 + Congenital anomaly of the inferior vena cava + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498 + Congenital anomaly of superior vena cava + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495 + Disease associated with non-acquired combined pituitary hormone deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 + Combined pituitary hormone deficiencies, genetic forms + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443 + Mesocardia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 + Congenital aortic valve atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 + Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 95434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 + Autosomal recessive cerebellar ataxia-movement disorder syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 95457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457 + Tricuspid valve agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95455 + Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 95462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95462 + Accessory tricuspid valve tissue + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95463 + Anomaly of the tricuspid subvalvular apparatus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459 + Congenital tricuspid stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461 + Straddling or overriding tricuspid valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474 + Double-orifice mitral valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95483 + Univentricular cardiopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95464 + Congenital mitral valve insufficiency and/or stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465 + Cleft mitral valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 + Acute hepatic porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 95232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 + Lissencephaly due to LIS1 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 + Hepatoerythropoietic porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 95428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 + COG8-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 95427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427 + Secondary short bowel syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 95409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95409 + Acute adrenal insufficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95432 + Primary progressive aphasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 95431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95431 + Twin to twin transfusion syndrome + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 95430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 + Congenital tracheomalacia + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 95429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429 + Angioma serpiginosum + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 94091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94091 + Mills syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94093 + Neuroleptic malignant syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 + Cerebellar ataxia, Cayman type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 + Spinocerebellar ataxia with axonal neuropathy type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 + Recessive mitochondrial ataxia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 + Autosomal dominant cerebellar ataxia type I + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 + Spinocerebellar ataxia type 7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 + Autosomal dominant cerebellar ataxia type III + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 + Autosomal dominant cerebellar ataxia type IV + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 94150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150 + Anonychia congenita totalis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 94064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 + Deafness-infertility syndrome + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 94063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 + 12q14 microdeletion syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 94066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066 + Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 94065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 + 15q24 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 94068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 + Spondyloepiphyseal dysplasia congenita + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 94075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94075 + Severe immune-mediated enteropathy + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 94083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 + Partington syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 94080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94080 + Non-functioning paraganglioma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 94086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086 + Blue diaper syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 94088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088 + Hereditary renal hypouricemia + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 94087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94087 + Cytophagic histiocytic panniculitis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 94090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090 + Pseudohypoparathyroidism type 2 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 94089 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 + Pseudohypoparathyroidism type 1B + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 96175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175 + Ring chromosome 11 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173 + Ring chromosome 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172 + Ring chromosome 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171 + Ring chromosome 2 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170 + Emanuel syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 + Koolen-De Vries syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168 + Monosomy 13q34 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167 + Recombinant 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96160 + Non-distal deletion 12q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150 + Distal deletion 14q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148 + Distal deletion 10q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96149 + Distal deletion 12q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 + Kleefstra syndrome due to 9q34 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96145 + Distal deletion 4q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96129 + Distal deletion 19p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 + Distal deletion 6p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96126 + Distal deletion 7p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121 + 7q11.23 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123 + Monosomy 22 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112 + Non-distal duplication 9q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107 + Distal duplication 20q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106 + Distal duplication 16q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105 + Distal duplication 13q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109 + Distal duplication 22q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098 + Distal duplication 6q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097 + Distal duplication 5q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096 + Distal duplication 4q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103 + Distal duplication 11q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102 + Distal duplication 10q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101 + Distal duplication 9q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100 + Distal duplication 8q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094 + Distal duplication 2q syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095 + 3q26 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092 + 8p inverted duplication/deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072 + 4p16.3 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074 + Distal duplication 7p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 + Beckwith-Wiedemann syndrome due to 11p15 microduplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078 + 16p13.3 microduplication syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069 + Distal duplication 1p36 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068 + Mosaic trisomy 22 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071 + Distal duplication 3p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070 + Distal duplication 2p syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059 + Mosaic trisomy 4 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060 + Mosaic trisomy 5 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061 + Mosaic trisomy 8 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063 + Mosaic trisomy 10 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 95717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717 + Idiopathic congenital hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95718 + Congenital thyroid malformation without hypothyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719 + Thyroid hemiagenesis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720 + Thyroid hypoplasia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 95854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95854 + Levocardia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 96055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055 + Tetrasomy 21 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 597623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597623 + IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 + Syndromic renal or urinary tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546 + Non-syndromic renal or urinary tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 597733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 + Oculocutaneous albinism type 8 + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 597738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 + Luscan-Lumish syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93548 + Glomerular disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93545 + Renal or urinary tract malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 597887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 + ALPI-related inflammatory bowel disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 93555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555 + Mixed cryoglobulinemia type III + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554 + Mixed cryoglobulinemia type II + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557 + Light and heavy chain deposition disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 597939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597939 + Euthyroid dysprealbuminemic hyperthyroxinemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 93556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556 + Heavy chain deposition disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 597743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 + SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 597746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 + Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 597749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 + KAT6B-related multiple congenital anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 + Pediatric systemic lupus erythematosus + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 597874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 + MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 + AFib amyloidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 598216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598216 + Upper tract urothelial carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 598603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 + Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 598363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598363 + Multisystem inflammatory syndrome in children and adults + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93558 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558 + Light chain deposition disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 598164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 + FOXG1 syndrome due to intragenic alteration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 + AApoAI amyloidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 + ALys amyloidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571 + Dense deposit disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93573 + Thrombotic microangiopathy + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568 + Juvenile polymyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448 + Lysosomal storage disease with skeletal involvement + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 597201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 + TRIM22-related inflammatory bowel disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 93447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447 + Primary bone dysplasia with defective bone mineralization + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446 + Primary bone dysplasia with decreased bone density + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444 + Primary bone dysplasia with increased bone density + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443 + Neonatal osteosclerotic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442 + Chondrodysplasia punctata + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441 + Primary bone dysplasia with multiple joint dislocations + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455 + Patellar dysostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454 + Dysostosis with predominant vertebral and costal involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453 + Dysostosis with predominant craniofacial involvement + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451 + Cleidocranial dysplasia and isolated cranial ossification defect + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450 + Primary bone dysplasia with disorganized development of skeletal components + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449 + Primary osteolysis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465 + Lethal chondrodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93461 + Chromosomal disease with overgrowth + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459 + Syndrome with synostosis or other joint formation defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460 + Overgrowth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457 + Non-syndromic limb reduction defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458 + Non-syndromic polydactyly, syndactyly and/or hyperphalangy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 + Scheie syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 93476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 + Hurler-Scheie syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 93473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 + Hurler syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 93399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 + Juvenile sialidosis type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 93398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398 + Genochondromatosis type 2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 + Congenital sialidosis type 2 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 599373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 + STXBP1-related encephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403 + Syndactyly type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 599376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 + Hypomyelination of early myelinating structures + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402 + Syndactyly type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 + Syndactyly type 4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 599418 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599418 + Hereditary angioedema with normal C1Inh not related to F12 or PLG variant + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 + Syndactyly type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 599480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599480 + Acquired hemophilia A + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 599485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599485 + Acquired hemophilia B + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 + Syndactyly type 5 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 599490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599490 + Acquired factor V deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93409 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 + Brachydactyly-syndactyly, Zhao type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 599495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599495 + Acquired factor VII deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 599501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599501 + Acquired factor X deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93419 + Rare bone disease + + + + + 15 + Achondroplasia + + + Preferential parent + + + + + + 437 + Hypophosphatemic rickets + + + Preferential parent + + + + + + 429 + Hypochondroplasia + + + Preferential parent + + + + + + 436 + Hypophosphatasia + + + Preferential parent + + + + + + 337 + Fibrodysplasia ossificans progressiva + + + Preferential parent + + + + + + 628 + Diastrophic dysplasia + + + Preferential parent + + + + + + 800 + Schwartz-Jampel syndrome + + + Preferential parent + + + + + + 53 + Albers-Schönberg osteopetrosis + + + Preferential parent + + + + + + 562 + McCune-Albright syndrome + + + Preferential parent + + + + + + 474 + Jeune syndrome + + + Preferential parent + + + + + + 289 + Ellis Van Creveld syndrome + + + Preferential parent + + + + + + 2771 + Bruck syndrome + + + Preferential parent + + + + + + 2772 + Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome + + + Preferential parent + + + + + + 2773 + Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome + + + Preferential parent + + + + + + 1310 + Caffey disease + + + Preferential parent + + + + + + 1452 + Cleidocranial dysplasia + + + Preferential parent + + + + + + 239 + Dyggve-Melchior-Clausen disease + + + Preferential parent + + + + + + 417 + Neonatal severe primary hyperparathyroidism + + + Preferential parent + + + + + + 2370 + Larsen-like osseous dysplasia-short stature syndrome + + + Preferential parent + + + + + + 1505 + Short rib-polydactyly syndrome + + + Preferential parent + + + + + + 560 + Marshall syndrome + + + Preferential parent + + + + + + 2635 + Metatropic dysplasia + + + Preferential parent + + + + + + 2655 + Thanatophoric dysplasia + + + Preferential parent + + + + + + 2746 + Opsismodysplasia + + + Preferential parent + + + + + + 2785 + Osteopetrosis with renal tubular acidosis + + + Preferential parent + + + + + + 2801 + Juvenile Paget disease + + + Preferential parent + + + + + + 763 + Pycnodysostosis + + + Preferential parent + + + + + + 1422 + Chondrodysplasia-difference of sex development syndrome + + + Preferential parent + + + + + + 666 + Osteogenesis imperfecta + + + Preferential parent + + + + + + 249 + Fibrous dysplasia of bone + + + Preferential parent + + + + + + 828 + Stickler syndrome + + + Preferential parent + + + + + + 2380 + Legg-Calvé-Perthes disease + + + Preferential parent + + + + + + 2764 + Osteochondritis dissecans + + + Preferential parent + + + + + + 253 + Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia + + + Preferential parent + + + + + + 140 + Campomelic dysplasia + + + Preferential parent + + + + + + 808 + Seckel syndrome + + + Preferential parent + + + + + + 184 + Cherubism + + + Preferential parent + + + + + + 240 + Léri-Weill dyschondrosteosis + + + Preferential parent + + + + + + 932 + Achondrogenesis + + + Preferential parent + + + + + + 950 + Acrodysostosis + + + Preferential parent + + + + + + 955 + Hajdu-Cheney syndrome + + + Preferential parent + + + + + + 968 + Acromesomelic dysplasia, Hunter-Thompson type + + + Preferential parent + + + + + + 40 + Acromesomelic dysplasia, Maroteaux type + + + Preferential parent + + + + + + 969 + Acromicric dysplasia + + + Preferential parent + + + + + + 1040 + Metaphyseal anadysplasia + + + Preferential parent + + + + + + 1159 + Progressive pseudorheumatoid dysplasia + + + Preferential parent + + + + + + 1190 + Atelosteogenesis type I + + + Preferential parent + + + + + + 114 + Auriculoosteodysplasia + + + Preferential parent + + + + + + 1263 + Boomerang dysplasia + + + Preferential parent + + + + + + 1293 + Brachyolmia + + + Preferential parent + + + + + + 1318 + Campomelia, Cumming type + + + Preferential parent + + + + + + 1328 + Camurati-Engelmann disease + + + Preferential parent + + + + + + 174 + Metaphyseal chondrodysplasia, Schmid type + + + Preferential parent + + + + + + 1425 + Desbuquois syndrome + + + Preferential parent + + + + + + 1426 + Greenberg dysplasia + + + Preferential parent + + + + + + 1427 + Autosomal recessive otospondylomegaepiphyseal dysplasia + + + Preferential parent + + + + + + 1436 + X-linked skeletal dysplasia-intellectual disability syndrome + + + Preferential parent + + + + + + 1453 + Cleidorhizomelic syndrome + + + Preferential parent + + + + + + 1506 + Thin ribs-tubular bones-dysmorphism syndrome + + + Preferential parent + + + + + + 1508 + Coxoauricular syndrome + + + Preferential parent + + + + + + 1513 + Craniodiaphyseal dysplasia + + + Preferential parent + + + + + + 1522 + Craniometaphyseal dysplasia + + + Preferential parent + + + + + + 1525 + Cranio-osteoarthropathy + + + Preferential parent + + + + + + 1667 + Wolcott-Rallison syndrome + + + Preferential parent + + + + + + 1782 + Dysosteosclerosis + + + Preferential parent + + + + + + 1798 + Craniofacial dysostosis-diaphyseal hyperplasia syndrome + + + Preferential parent + + + + + + 1801 + Kyphomelic dysplasia + + + Preferential parent + + + + + + 1802 + Ghosal hematodiaphyseal dysplasia + + + Preferential parent + + + + + + 1803 + Thoracomelic dysplasia + + + Preferential parent + + + + + + 251 + Multiple epiphyseal dysplasia + + + Preferential parent + + + + + + 1830 + Schimke immuno-osseous dysplasia + + + Preferential parent + + + + + + 1836 + Mesomelic dysplasia, Kantaputra type + + + Preferential parent + + + + + + 1837 + Metaphyseal chondrodysplasia, Rosenberg type + + + Preferential parent + + + + + + 1842 + Bone dysplasia, lethal Holmgren type + + + Preferential parent + + + + + + 254 + Spondylometaphyseal dysplasia + + + Preferential parent + + + + + + 1860 + Thanatophoric dysplasia type 1 + + + Preferential parent + + + + + + 1865 + Dyssegmental dysplasia, Silverman-Handmaker type + + + Preferential parent + + + + + + 1879 + Melorheostosis with osteopoikilosis + + + Preferential parent + + + + + + 1822 + Dysplasia epiphysealis hemimelica + + + Preferential parent + + + + + + 1824 + Lowry-Wood syndrome + + + Preferential parent + + + + + + 1952 + Epiphyseal stippling-osteoclastic hyperplasia syndrome + + + Preferential parent + + + + + + 1962 + Exostoses-anetodermia-brachydactyly type E syndrome + + + Preferential parent + + + + + + 2021 + Fibrochondrogenesis + + + Preferential parent + + + + + + 2028 + Juvenile hyaline fibromatosis + + + Preferential parent + + + + + + 2050 + Cole-Carpenter syndrome + + + Preferential parent + + + + + + 1826 + Frontometaphyseal dysplasia + + + Preferential parent + + + + + + 2078 + Geroderma osteodysplastica + + + Preferential parent + + + + + + 2097 + Grant syndrome + + + Preferential parent + + + + + + 2098 + Acromesomelic dysplasia, Grebe type + + + Preferential parent + + + + + + 2114 + Hip dysplasia, Beukes type + + + Preferential parent + + + + + + 2176 + Infantile systemic hyalinosis + + + Preferential parent + + + + + + 2324 + Osteopenia-intellectual disability-sparse hair syndrome + + + Preferential parent + + + + + + 2333 + Kenny-Caffey syndrome + + + Preferential parent + + + + + + 485 + Kniest dysplasia + + + Preferential parent + + + + + + 2347 + Lethal Kniest-like dysplasia + + + Preferential parent + + + + + + 2371 + Lethal Larsen-like syndrome + + + Preferential parent + + + + + + 296 + Ollier disease + + + Preferential parent + + + + + + 2457 + Mandibuloacral dysplasia + + + Preferential parent + + + + + + 2484 + Melnick-Needles syndrome + + + Preferential parent + + + + + + 2485 + Melorheostosis + + + Preferential parent + + + + + + 2496 + Mesomelia-synostoses syndrome + + + Preferential parent + + + + + + 2497 + Upper limb mesomelic dysplasia, type Fryns + + + Preferential parent + + + + + + 2499 + Metachondromatosis + + + Preferential parent + + + + + + 2501 + Metaphyseal chondrodysplasia, Spahr type + + + Preferential parent + + + + + + 2502 + Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome + + + Preferential parent + + + + + + 2504 + Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome + + + Preferential parent + + + + + + 2616 + 3M syndrome + + + Preferential parent + + + + + + 2623 + Geleophysic dysplasia + + + Preferential parent + + + + + + 2632 + Langer mesomelic dysplasia + + + Preferential parent + + + + + + 2633 + Mesomelic dysplasia, Nievergelt type + + + Preferential parent + + + + + + 2634 + Mesomelic dwarfism, Reinhardt-Pfeiffer type + + + Preferential parent + + + + + + 2643 + Microcephalic primordial dwarfism, Toriello type + + + Preferential parent + + + + + + 2636 + Microcephalic osteodysplastic primordial dwarfism types I and III + + + Preferential parent + + + + + + 2645 + Osteoglosphonic dysplasia + + + Preferential parent + + + + + + 2658 + Lenz-Majewski hyperostotic dysplasia + + + Preferential parent + + + + + + 2733 + Omodysplasia + + + Preferential parent + + + + + + 2762 + Progressive osseous heteroplasia + + + Preferential parent + + + + + + 2763 + Osteocraniostenosis + + + Preferential parent + + + + + + 2767 + Carpotarsal osteochondromatosis + + + Preferential parent + + + + + + 2768 + Blount disease + + + Preferential parent + + + + + + 2770 + Nasu-Hakola disease + + + Preferential parent + + + + + + 2774 + Multicentric carpo-tarsal osteolysis with or without nephropathy + + + Preferential parent + + + + + + 2776 + Autosomal recessive distal osteolysis syndrome + + + Preferential parent + + + + + + 2777 + Osteomesopyknosis + + + Preferential parent + + + + + + 2779 + Osteopathia striata-pigmentary dermopathy-white forelock syndrome + + + Preferential parent + + + + + + 2780 + Osteopathia striata-cranial sclerosis syndrome + + + Preferential parent + + + + + + 667 + Autosomal recessive malignant osteopetrosis + + + Preferential parent + + + + + + 2783 + Autosomal dominant osteopetrosis type 1 + + + Preferential parent + + + + + + 2786 + Osteoporosis-oculocutaneous hypopigmentation syndrome + + + Preferential parent + + + + + + 2788 + Osteoporosis-pseudoglioma syndrome + + + Preferential parent + + + + + + 2789 + Lateral meningocele syndrome + + + Preferential parent + + + + + + 2790 + Endosteal hyperostosis, Worth type + + + Preferential parent + + + + + + 2796 + Pachydermoperiostosis + + + Preferential parent + + + + + + 2867 + Short stature, Brussels type + + + Preferential parent + + + + + + 2899 + Brachyolmia-amelogenesis imperfecta syndrome + + + Preferential parent + + + + + + 750 + Pseudoachondroplasia + + + Preferential parent + + + + + + 3003 + Pyknoachondrogenesis + + + Preferential parent + + + + + + 3005 + Pyle disease + + + Preferential parent + + + + + + 1832 + Osteosclerotic bone dysplasia + + + Preferential parent + + + + + + 3019 + Ramon syndrome + + + Preferential parent + + + + + + 3034 + Delayed membranous cranial ossification + + + Preferential parent + + + + + + 3098 + Rhizomelic syndrome, Urbach type + + + Preferential parent + + + + + + 3144 + Schneckenbecken dysplasia + + + Preferential parent + + + + + + 3152 + Sclerosteosis + + + Preferential parent + + + + + + 3180 + Spondylocamptodactyly syndrome + + + Preferential parent + + + + + + 1855 + Spondyloenchondrodysplasia + + + Preferential parent + + + + + + 1856 + Spondyloperipheral dysplasia-short ulna syndrome + + + Preferential parent + + + + + + 3275 + Spondylocarpotarsal synostosis + + + Preferential parent + + + + + + 3314 + Thiemann disease, familial form + + + Preferential parent + + + + + + 3317 + Thoracolaryngopelvic dysplasia + + + Preferential parent + + + + + + 3344 + Weismann-Netter syndrome + + + Preferential parent + + + + + + 3408 + Upington disease + + + Preferential parent + + + + + + 3416 + Hyperostosis corticalis generalisata + + + Preferential parent + + + + + + 3472 + Yunis-Varon syndrome + + + Preferential parent + + + + + + 1423 + Lethal recessive chondrodysplasia + + + Preferential parent + + + + + + 2619 + Brachydactylous dwarfism, Mseleni type + + + Preferential parent + + + + + + 2204 + Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type + + + Preferential parent + + + + + + 2831 + Rhizomelic dysplasia, Patterson-Lowry type + + + Preferential parent + + + + + + 3206 + Stüve-Wiedemann syndrome + + + Preferential parent + + + + + + 321 + Multiple osteochondromas + + + Preferential parent + + + + + + 177 + Rhizomelic chondrodysplasia punctata + + + Preferential parent + + + + + + 175 + Cartilage-hair hypoplasia + + + Preferential parent + + + + + + 2781 + Osteopetrosis and related disorders + + + Preferential parent + + + + + + 503 + Larsen syndrome + + + Preferential parent + + + + + + 176 + Non-rhizomelic chondrodysplasia punctata + + + Preferential parent + + + + + + 2637 + Microcephalic osteodysplastic primordial dwarfism type II + + + Preferential parent + + + + + + 33067 + Metaphyseal chondrodysplasia, Jansen type + + + Preferential parent + + + + + + 35107 + Desmosterolosis + + + Preferential parent + + + + + + 35173 + X-linked dominant chondrodysplasia punctata + + + Preferential parent + + + + + + 50809 + Talo-patello-scaphoid osteolysis + + + Preferential parent + + + + + + 50811 + Lipodystrophy-intellectual disability-deafness syndrome + + + Preferential parent + + + + + + 50945 + Blomstrand lethal chondrodysplasia + + + Preferential parent + + + + + + 53697 + Gnathodiaphyseal dysplasia + + + Preferential parent + + + + + + 56304 + Atelosteogenesis type II + + + Preferential parent + + + + + + 56305 + Atelosteogenesis type III + + + Preferential parent + + + + + + 57196 + Medial condensing osteitis of the clavicle + + + Preferential parent + + + + + + 57782 + Mazabraud syndrome + + + Preferential parent + + + + + + 60015 + Enlarged parietal foramina + + + Preferential parent + + + + + + 63442 + Angel-shaped phalango-epiphyseal dysplasia + + + Preferential parent + + + + + + 63446 + Acrocapitofemoral dysplasia + + + Preferential parent + + + + + + 73230 + Ossification anomalies-psychomotor developmental delay syndrome + + + Preferential parent + + + + + + 75325 + Osteosclerosis-ichthyosis-premature ovarian failure syndrome + + + Preferential parent + + + + + + 79106 + Eiken syndrome + + + Preferential parent + + + + + + 79345 + Brachytelephalangic chondrodysplasia punctata + + + Preferential parent + + + + + + 79346 + Chondrodysplasia punctata, tibial-metacarpal type + + + Preferential parent + + + + + + 79347 + Chondrodysplasia punctata, Toriello type + + + Preferential parent + + + + + + 83468 + Solitary bone cyst + + + Preferential parent + + + + + + 85165 + Severe achondroplasia-developmental delay-acanthosis nigricans syndrome + + + Preferential parent + + + + + + 85166 + Platyspondylic dysplasia, Torrance type + + + Preferential parent + + + + + + 85167 + Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome + + + Preferential parent + + + + + + 85168 + Craniofacial conodysplasia + + + Preferential parent + + + + + + 85170 + Mesomelic dysplasia, Savarirayan type + + + Preferential parent + + + + + + 85172 + Microcephalic osteodysplastic dysplasia, Saul-Wilson type + + + Preferential parent + + + + + + 85174 + Pseudodiastrophic dysplasia + + + Preferential parent + + + + + + 85175 + Astley-Kendall dysplasia + + + Preferential parent + + + + + + 85179 + Infantile osteopetrosis with neuroaxonal dysplasia + + + Preferential parent + + + + + + 85182 + Diaphyseal medullary stenosis-bone malignancy syndrome + + + Preferential parent + + + + + + 85184 + Craniometadiaphyseal dysplasia, wormian bone type + + + Preferential parent + + + + + + 85186 + Endosteal sclerosis-cerebellar hypoplasia syndrome + + + Preferential parent + + + + + + 85188 + Metaphyseal dysplasia, Braun-Tinschert type + + + Preferential parent + + + + + + 85191 + Singleton-Merten dysplasia + + + Preferential parent + + + + + + 85192 + Calvarial doughnut lesions-bone fragility syndrome + + + Preferential parent + + + + + + 85193 + Idiopathic juvenile osteoporosis + + + Preferential parent + + + + + + 85194 + Spondylo-ocular syndrome + + + Preferential parent + + + + + + 85195 + Familial expansile osteolysis + + + Preferential parent + + + + + + 85197 + Genochondromatosis type 1 + + + Preferential parent + + + + + + 85198 + Dysspondyloenchondromatosis + + + Preferential parent + + + + + + 86820 + Familial avascular necrosis of femoral head + + + Preferential parent + + + + + + 88630 + Terminal osseous dysplasia-pigmentary defects syndrome + + + Preferential parent + + + + + + 89936 + X-linked hypophosphatemia + + + Preferential parent + + + + + + 89937 + Autosomal dominant hypophosphatemic rickets + + + Preferential parent + + + + + + 90153 + Mandibuloacral dysplasia with type A lipodystrophy + + + Preferential parent + + + + + + 90154 + Mandibuloacral dysplasia with type B lipodystrophy + + + Preferential parent + + + + + + 90650 + Otopalatodigital syndrome type 1 + + + Preferential parent + + + + + + 90652 + Otopalatodigital syndrome type 2 + + + Preferential parent + + + + + + 90653 + Stickler syndrome type 1 + + + Preferential parent + + + + + + 90654 + Stickler syndrome type 2 + + + Preferential parent + + + + + + 93160 + Hypocalcemic vitamin D-resistant rickets + + + Preferential parent + + + + + + 93268 + Short rib-polydactyly syndrome, Beemer-Langer type + + + Preferential parent + + + + + + 93269 + Short rib-polydactyly syndrome, Majewski type + + + Preferential parent + + + + + + 93270 + Short rib-polydactyly syndrome, Saldino-Noonan type + + + Preferential parent + + + + + + 93271 + Short rib-polydactyly syndrome, Verma-Naumoff type + + + Preferential parent + + + + + + 93274 + Thanatophoric dysplasia type 2 + + + Preferential parent + + + + + + 93276 + Polyostotic fibrous dysplasia + + + Preferential parent + + + + + + 93277 + Monostotic fibrous dysplasia + + + Preferential parent + + + + + + 93279 + Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis + + + Preferential parent + + + + + + 93282 + Spondyloepimetaphyseal dysplasia, PAPSS2 type + + + Preferential parent + + + + + + 93283 + Spondyloepiphyseal dysplasia, Kimberley type + + + Preferential parent + + + + + + 93284 + Spondyloepiphyseal dysplasia tarda + + + Preferential parent + + + + + + 93296 + Achondrogenesis type 2 + + + Preferential parent + + + + + + 93297 + Hypochondrogenesis + + + Preferential parent + + + + + + 93298 + Achondrogenesis type 1B + + + Preferential parent + + + + + + 93299 + Achondrogenesis type 1A + + + Preferential parent + + + + + + 93302 + Brachyolmia, Maroteaux type + + + Preferential parent + + + + + + 93304 + Autosomal dominant brachyolmia + + + Preferential parent + + + + + + 93307 + Multiple epiphyseal dysplasia type 4 + + + Preferential parent + + + + + + 93308 + Multiple epiphyseal dysplasia type 1 + + + Preferential parent + + + + + + 93311 + Multiple epiphyseal dysplasia type 5 + + + Preferential parent + + + + + + 93314 + Spondylometaphyseal dysplasia, Kozlowski type + + + Preferential parent + + + + + + 93315 + Spondylometaphyseal dysplasia, 'corner fracture' type + + + Preferential parent + + + + + + 93316 + Spondylometaphyseal dysplasia, Schmidt type + + + Preferential parent + + + + + + 93317 + Spondylometaphyseal dysplasia, Sedaghatian type + + + Preferential parent + + + + + + 93324 + Autosomal recessive Kenny-Caffey syndrome + + + Preferential parent + + + + + + 93325 + Autosomal dominant Kenny-Caffey syndrome + + + Preferential parent + + + + + + 93328 + Autosomal dominant omodysplasia + + + Preferential parent + + + + + + 93329 + Autosomal recessive omodysplasia + + + Preferential parent + + + + + + 93346 + Spondyloepimetaphyseal dysplasia congenita, Strudwick type + + + Preferential parent + + + + + + 93347 + Anauxetic dysplasia + + + Preferential parent + + + + + + 93349 + X-linked spondyloepimetaphyseal dysplasia + + + Preferential parent + + + + + + 93351 + Spondyloepimetaphyseal dysplasia, Irapa type + + + Preferential parent + + + + + + 93352 + Spondyloepimetaphyseal dysplasia, Shohat type + + + Preferential parent + + + + + + 93356 + Spondyloepimetaphyseal dysplasia, Missouri type + + + Preferential parent + + + + + + 93357 + SPONASTRIME dysplasia + + + Preferential parent + + + + + + 93358 + Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome + + + Preferential parent + + + + + + 93360 + Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type + + + Preferential parent + + + + + + 93398 + Genochondromatosis type 2 + + + Preferential parent + + + + + + 93420 + FGFR3-related chondrodysplasia + + + Preferential parent + + + + + + 93421 + Type 2 collagen-related bone disorder + + + Preferential parent + + + + + + 93422 + Type 11 collagen-related bone disorder + + + Preferential parent + + + + + + 93423 + Sulfation-related bone disorder + + + Preferential parent + + + + + + 93425 + Filamin-related bone disorder + + + Preferential parent + + + + + + 93426 + Ciliopathies with major skeletal involvement + + + Preferential parent + + + + + + 93429 + Multiple epiphyseal dysplasia and pseudoachondroplasia + + + Preferential parent + + + + + + 93430 + Multiple metaphyseal dysplasia + + + Preferential parent + + + + + + 93434 + Spondylodysplastic dysplasia + + + Preferential parent + + + + + + 93436 + Acromelic dysplasia + + + Preferential parent + + + + + + 93437 + Acromesomelic dysplasia + + + Preferential parent + + + + + + 93438 + Mesomelic and rhizo-mesomelic dysplasia + + + Preferential parent + + + + + + 93439 + Campomelic dysplasia and related disorders + + + Preferential parent + + + + + + 93440 + Slender bone dysplasia + + + Preferential parent + + + + + + 93441 + Primary bone dysplasia with multiple joint dislocations + + + Preferential parent + + + + + + 93442 + Chondrodysplasia punctata + + + Preferential parent + + + + + + 93443 + Neonatal osteosclerotic dysplasia + + + Preferential parent + + + + + + 93444 + Primary bone dysplasia with increased bone density + + + Preferential parent + + + + + + 93446 + Primary bone dysplasia with decreased bone density + + + Preferential parent + + + + + + 93447 + Primary bone dysplasia with defective bone mineralization + + + Preferential parent + + + + + + 93448 + Lysosomal storage disease with skeletal involvement + + + Preferential parent + + + + + + 93449 + Primary osteolysis + + + Preferential parent + + + + + + 93450 + Primary bone dysplasia with disorganized development of skeletal components + + + Preferential parent + + + + + + 93451 + Cleidocranial dysplasia and isolated cranial ossification defect + + + Preferential parent + + + + + + 93465 + Lethal chondrodysplasia + + + Preferential parent + + + + + + 94063 + 12q14 microdeletion syndrome + + + Preferential parent + + + + + + 94068 + Spondyloepiphyseal dysplasia congenita + + + Preferential parent + + + + + + 97332 + Kienbock disease + + + Preferential parent + + + + + + 97335 + Osgood-Schlatter disease + + + Preferential parent + + + + + + 97336 + Panner disease + + + Preferential parent + + + + + + 97337 + Sinding-Larsen-Johansson disease + + + Preferential parent + + + + + + 99642 + Spondyloepimetaphyseal dysplasia, Handigodu type + + + Preferential parent + + + + + + 99646 + Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria + + + Preferential parent + + + + + + 137678 + Spondyloepiphyseal dysplasia with metatarsal shortening + + + Preferential parent + + + + + + 137834 + Frank-Ter Haar syndrome + + + Preferential parent + + + + + + 140969 + Saldino-Mainzer syndrome + + + Preferential parent + + + + + + 156728 + Spondyloepimetaphyseal dysplasia, matrilin-3 type + + + Preferential parent + + + + + + 156731 + Dyssegmental dysplasia, Rolland-Desbuquois type + + + Preferential parent + + + + + + 157215 + Hereditary hypophosphatemic rickets with hypercalciuria + + + Preferential parent + + + + + + 163634 + Maffucci syndrome + + + Preferential parent + + + + + + 163649 + Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome + + + Preferential parent + + + + + + 163654 + Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome + + + Preferential parent + + + + + + 163662 + Spondyloepiphyseal dysplasia, Reardon type + + + Preferential parent + + + + + + 163665 + Spondyloepiphyseal dysplasia tarda, Kohn type + + + Preferential parent + + + + + + 163668 + Spondyloepiphyseal dysplasia, MacDermot type + + + Preferential parent + + + + + + 163966 + X-linked dominant chondrodysplasia, Chassaing-Lacombe type + + + Preferential parent + + + + + + 166002 + Multiple epiphyseal dysplasia due to collagen 9 anomaly + + + Preferential parent + + + + + + 166016 + Multiple epiphyseal dysplasia, Lowry type + + + Preferential parent + + + + + + 166024 + Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome + + + Preferential parent + + + + + + 166029 + Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome + + + Preferential parent + + + + + + 166032 + Multiple epiphyseal dysplasia-miniepiphyses syndrome + + + Preferential parent + + + + + + 166035 + Brachydactyly-short stature-retinitis pigmentosa syndrome + + + Preferential parent + + + + + + 166038 + Metaphyseal chondrodysplasia, Kaitila type + + + Preferential parent + + + + + + 166100 + Autosomal dominant otospondylomegaepiphyseal dysplasia + + + Preferential parent + + + + + + 166119 + Isolated osteopoikilosis + + + Preferential parent + + + + + + 166272 + Odontochondrodysplasia + + + Preferential parent + + + + + + 166277 + Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia + + + Preferential parent + + + + + + 168443 + Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome + + + Preferential parent + + + + + + 168451 + Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome + + + Preferential parent + + + + + + 168454 + Spondyloepimetaphyseal dysplasia, Geneviève type + + + Preferential parent + + + + + + 168544 + Spondylometaphyseal dysplasia, Golden type + + + Preferential parent + + + + + + 168549 + Axial spondylometaphyseal dysplasia + + + Preferential parent + + + + + + 168552 + Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome + + + Preferential parent + + + + + + 168555 + Spondylometaphyseal dysplasia, A4 type + + + Preferential parent + + + + + + 168621 + Dysplasia of head of femur, Meyer type + + + Preferential parent + + + + + + 169349 + Immuno-osseous dysplasia + + + Preferential parent + + + + + + 171866 + Spondyloepimetaphyseal dysplasia, aggrecan type + + + Preferential parent + + + + + + 178355 + Smith-McCort dysplasia + + + Preferential parent + + + + + + 178389 + Osteopetrosis-hypogammaglobulinemia syndrome + + + Preferential parent + + + + + + 183524 + Rare genetic bone disease + + + Preferential parent + + + + + + 183527 + Genetic bone tumor + + + Preferential parent + + + + + + 210110 + Intermediate osteopetrosis + + + Preferential parent + + + + + + 216796 + Osteogenesis imperfecta type 1 + + + Preferential parent + + + + + + 216804 + Osteogenesis imperfecta type 2 + + + Preferential parent + + + + + + 216812 + Osteogenesis imperfecta type 3 + + + Preferential parent + + + + + + 216820 + Osteogenesis imperfecta type 4 + + + Preferential parent + + + + + + 216828 + Osteogenesis imperfecta type 5 + + + Preferential parent + + + + + + 228387 + Spondylo-megaepiphyseal-metaphyseal dysplasia + + + Preferential parent + + + + + + 235832 + Congenital vascular bone syndrome + + + Preferential parent + + + + + + 247623 + Perinatal lethal hypophosphatasia + + + Preferential parent + + + + + + 247638 + Prenatal benign hypophosphatasia + + + Preferential parent + + + + + + 247651 + Infantile hypophosphatasia + + + Preferential parent + + + + + + 247667 + Childhood-onset hypophosphatasia + + + Preferential parent + + + + + + 247676 + Adult hypophosphatasia + + + Preferential parent + + + + + + 247685 + Odontohypophosphatasia + + + Preferential parent + + + + + + 248095 + Primary hypertrophic osteoarthropathy + + + Preferential parent + + + + + + 250984 + Autosomal recessive Stickler syndrome + + + Preferential parent + + + + + + 251262 + Familial osteochondritis dissecans + + + Preferential parent + + + + + + 251290 + Parietal foramina with clavicular hypoplasia + + + Preferential parent + + + + + + 263463 + CHST3-related skeletal dysplasia + + + Preferential parent + + + + + + 263482 + Spondyloepimetaphyseal dysplasia, Maroteaux type + + + Preferential parent + + + + + + 280576 + Nestor-Guillermo progeria syndrome + + + Preferential parent + + + + + + 280586 + Chondrodysplasia with joint dislocations, gPAPP type + + + Preferential parent + + + + + + 284139 + Larsen-like syndrome, B3GAT3 type + + + Preferential parent + + + + + + 289098 + Disorders of vitamin D metabolism + + + Preferential parent + + + + + + 289103 + Hypocalcemic rickets + + + Preferential parent + + + + + + 289157 + Hypocalcemic vitamin D-dependent rickets + + + Preferential parent + + + + + + 289176 + Autosomal recessive hypophosphatemic rickets + + + Preferential parent + + + + + + 300493 + Sagliker syndrome + + + Preferential parent + + + + + + 309789 + Rhizomelic chondrodysplasia punctata type 1 + + + Preferential parent + + + + + + 309796 + Rhizomelic chondrodysplasia punctata type 2 + + + Preferential parent + + + + + + 309803 + Rhizomelic chondrodysplasia punctata type 3 + + + Preferential parent + + + + + + 313855 + FGFR2-related bent bone dysplasia + + + Preferential parent + + + + + + 314029 + High bone mass osteogenesis imperfecta + + + Preferential parent + + + + + + 314394 + Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome + + + Preferential parent + + + + + + 314795 + SHOX-related short stature + + + Preferential parent + + + + + + 319671 + Alazami syndrome + + + Preferential parent + + + + + + 319675 + Microcephalic primordial dwarfism, Dauber type + + + Preferential parent + + + + + + 324307 + Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome + + + Preferential parent + + + + + + 324364 + Mixed sclerosing bone dystrophy with extra-skeletal manifestations + + + Preferential parent + + + + + + 329228 + Microcephalic primordial dwarfism due to ZNF335 deficiency + + + Preferential parent + + + + + + 352540 + Oncogenic osteomalacia + + + Preferential parent + + + + + + 352636 + Phalangeal microgeodic syndrome + + + Preferential parent + + + + + + 353298 + Roifman syndrome + + + Preferential parent + + + + + + 364526 + Primary bone dysplasia + + + Preferential parent + + + + + + 364531 + Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments + + + Preferential parent + + + + + + 364536 + Primary bone dysplasia with micromelia + + + Preferential parent + + + + + + 364541 + Otopalatodigital syndrome spectrum disorder + + + Preferential parent + + + + + + 364803 + Rare bone disease related to a common gene or pathway defect + + + Preferential parent + + + + + + 364820 + TRPV4-related bone disorder + + + Preferential parent + + + + + + 370015 + Spondyloepimetaphyseal dysplasia, Isidor-Toutain type + + + Preferential parent + + + + + + 391327 + X-linked calvarial hyperostosis + + + Preferential parent + + + + + + 391330 + X-linked osteoporosis with fractures + + + Preferential parent + + + + + + 391474 + Frontorhiny + + + Preferential parent + + + + + + 397623 + Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome + + + Preferential parent + + + + + + 399158 + Osteonecrosis + + + Preferential parent + + + + + + 399164 + Avascular necrosis + + + Preferential parent + + + + + + 399169 + Secondary avascular necrosis + + + Preferential parent + + + + + + 399175 + Traumatic avascular necrosis + + + Preferential parent + + + + + + 399180 + Secondary non-traumatic avascular necrosis + + + Preferential parent + + + + + + 399185 + Rare hereditary disease with avascular necrosis + + + Preferential parent + + + + + + 399293 + Osteonecrosis of the jaw + + + Preferential parent + + + + + + 399302 + Primary avascular necrosis + + + Preferential parent + + + + + + 399307 + Idiopathic avascular necrosis + + + Preferential parent + + + + + + 399319 + Osteochondrosis + + + Preferential parent + + + + + + 399329 + Epiphysiolysis of the hip + + + Preferential parent + + + + + + 399380 + Osteonecrosis of genetic origin + + + Preferential parent + + + + + + 399388 + Avascular necrosis of genetic origin + + + Preferential parent + + + + + + 399391 + Osteochondrosis of genetic origin + + + Preferential parent + + + + + + 401979 + Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type + + + Preferential parent + + + + + + 404507 + Chondromyxoid fibroma + + + Preferential parent + + + + + + 420794 + Cono-spondylar dysplasia + + + Preferential parent + + + + + + 424099 + Colobomatous microphthalmia-rhizomelic dysplasia syndrome + + + Preferential parent + + + + + + 435329 + Familial ossifying fibroma + + + Preferential parent + + + + + + 435804 + Short stature-advanced bone age-early-onset osteoarthritis syndrome + + + Preferential parent + + + + + + 438117 + Steel syndrome + + + Preferential parent + + + + + + 440354 + Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome + + + Preferential parent + + + + + + 443098 + Hyperostosis cranialis interna + + + Preferential parent + + + + + + 444316 + Idiopathic phalangeal acro-osteolysis + + + Preferential parent + + + + + + 448242 + Autosomal recessive brachyolmia + + + Preferential parent + + + + + + 448267 + Regressive spondylometaphyseal dysplasia + + + Preferential parent + + + + + + 457059 + Pseudohypoparathyroidism with Albright hereditary osteodystrophy + + + Preferential parent + + + + + + 457378 + Complex lethal osteochondrodysplasia + + + Preferential parent + + + + + + 457395 + Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome + + + Preferential parent + + + + + + 459051 + Spondyloepiphyseal dysplasia, Stanescu type + + + Preferential parent + + + + + + 459070 + X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome + + + Preferential parent + + + + + + 464366 + NEK9-related lethal skeletal dysplasia + + + Preferential parent + + + + + + 468717 + Rhizomelic chondrodysplasia punctata type 5 + + + Preferential parent + + + + + + 477831 + Kosaki overgrowth syndrome + + + Preferential parent + + + + + + 480553 + Aneurysmal bone cyst + + + Preferential parent + + + + + + 488265 + Osteofibrous dysplasia + + + Preferential parent + + + + + + 498445 + Genetic inflammatory or rheumatoid-like osteoarthropathy + + + Preferential parent + + + + + + 498474 + Hyaline fibromatosis syndrome + + + Preferential parent + + + + + + 498481 + LRP5-related primary osteoporosis + + + Preferential parent + + + + + + 498485 + Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome + + + Preferential parent + + + + + + 498488 + Overgrowth syndrome with 2q37 translocation + + + Preferential parent + + + + + + 498497 + Short rib-polydactyly syndrome type 5 + + + Preferential parent + + + + + + 500548 + Osteosclerotic metaphyseal dysplasia + + + Preferential parent + + + + + + 508533 + Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome + + + Preferential parent + + + + + + 521127 + Osteoradionecrosis of the mandible + + + Preferential parent + + + + + + 527450 + Severe myopia-generalized joint laxity-short stature syndrome + + + Preferential parent + + + + + + 557003 + Oculoskeletodental syndrome + + + Preferential parent + + + + + + 563991 + Osteochondrosis of the tarsal bone + + + Preferential parent + + + + + + 564003 + Osteochondrosis of the metatarsal bone + + + Preferential parent + + + + + + 566943 + Mueller-Weiss syndrome + + + Preferential parent + + + + + + 589435 + Spondylometaphyseal dysplasia-corneal dystrophy syndrome + + + Preferential parent + + + + + + 589905 + PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome + + + Preferential parent + + + + + + 595216 + Fibrous dysplasia/McCune-Albright syndrome + + + Preferential parent + + + + + + 611207 + Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome + + + Preferential parent + + + + + + 611223 + EN1-related dorsoventral syndrome + + + Preferential parent + + + + + + 622934 + SBDS-related severe neonatal spondylometaphyseal dysplasia + + + Preferential parent + + + + + + 623695 + MIR140-related spondyloepiphyseal dysplasia + + + Preferential parent + + + + + + 642085 + EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity + + + Preferential parent + + + + + + 642099 + Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type + + + Preferential parent + + + + + + 646136 + Dysplastic cortical hyperostosis, Al-Gazali type + + + Preferential parent + + + + + + 646139 + Dysplastic cortical hyperostosis + + + Preferential parent + + + + + + 647667 + Mandibuloacral dysplasia associated to MTX2 + + + Preferential parent + + + + + + 647676 + Multiple epiphyseal dysplasia type 7 + + + Preferential parent + + + + + + 656283 + Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency + + + Preferential parent + + + + + + 664377 + MGP-related spondyloepiphyseal dysplasia + + + Preferential parent + + + + + + 674499 + Proteoglycan-related bone disorder + + + Preferential parent + + + + + + 599507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599507 + Acquired factor XI deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 599513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599513 + Acquired factor XIII deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93421 + Type 2 collagen-related bone disorder + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 599519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599519 + Factor V short isoforms-related bleeding disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93420 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93420 + FGFR3-related chondrodysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 599579 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579 + Factor V Amsterdam bleeding disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93422 + Type 11 collagen-related bone disorder + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93423 + Sulfation-related bone disorder + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93425 + Filamin-related bone disorder + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426 + Ciliopathies with major skeletal involvement + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429 + Multiple epiphyseal dysplasia and pseudoachondroplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430 + Multiple metaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434 + Spondylodysplastic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 + Acromelic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437 + Acromesomelic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438 + Mesomelic and rhizo-mesomelic dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439 + Campomelic dysplasia and related disorders + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440 + Slender bone dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 + Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 + Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 93357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 + SPONASTRIME dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 599082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082 + CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 + Familial hypocalciuric hypercalcemia type 1 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 93382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 + Brachydactyly type A6 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383 + Brachydactyly type B + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 + Brachydactyly type E + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 + Brachydactyly type A1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384 + Brachydactyly type C + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396 + Brachydactyly type A2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397 + Brachydactyly type A7 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394 + Brachydactyly type A4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 595356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595356 + Localized dystrophic epidermolysis bullosa + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 93969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 + Open spinal dysraphism with a myelomeningocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 595337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595337 + Adrenal hypoplasia congenita + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 595351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595351 + Epidermolysis bullosa simplex with extracutaneous involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 93964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93964 + Blepharospasm-oromandibular dystonia syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 595346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595346 + Epidermolysis bullosa simplex without extracutaneous involvement + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 93958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93958 + Oromandibular dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 595216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595216 + Fibrous dysplasia/McCune-Albright syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 94059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94059 + Uremic pruritus + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 94058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058 + Neovascular glaucoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 94056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056 + Isolated humero-ulnar synostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976 + Anotia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 + FG syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 + Classic bladder exstrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93928 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 + Isolated epispadias + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 + Cloacal exstrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 + Midline interhemispheric variant of holoprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 + Lobar holoprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 + Alobar holoprosencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 + Full schwannomatosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 93953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953 + Familial thyroglossal duct cyst + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 93952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 + X-linked intellectual disability, Hedera type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 595109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 + Atypical Timothy syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 595133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595133 + Perivascular epithelioid cell neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 93950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 + X-linked intellectual disability, Sutherland-Haan type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 595098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 + Timothy syndrome type 1 + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 93947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947 + X-linked intellectual disability, Golabi-Ito-Hall type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 595105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 + Timothy syndrome type 2 + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 93946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 + Hamel cerebro-palato-cardiac syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 + X-linked intellectual disability, Porteous type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 + Laryngotracheoesophageal cleft type 4 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940 + Laryngotracheoesophageal cleft type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939 + Laryngotracheoesophageal cleft type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 + Laryngotracheoesophageal cleft type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93626 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93626 + Rare renal disease + + + + + 731 + Autosomal recessive polycystic kidney disease + + + Preferential parent + + + + + + 214 + Cystinuria + + + Preferential parent + + + + + + 112 + Bartter syndrome + + + Preferential parent + + + + + + 1851 + Multicystic dysplastic kidney + + + Preferential parent + + + + + + 63 + Alport syndrome + + + Preferential parent + + + + + + 3467 + Hereditary xanthinuria + + + Preferential parent + + + + + + 976 + Adenine phosphoribosyltransferase deficiency + + + Preferential parent + + + + + + 2134 + Atypical hemolytic uremic syndrome + + + Preferential parent + + + + + + 730 + Autosomal dominant polycystic kidney disease + + + Preferential parent + + + + + + 526 + Liddle syndrome + + + Preferential parent + + + + + + 358 + Gitelman syndrome + + + Preferential parent + + + + + + 1031 + Enamel-renal syndrome + + + Preferential parent + + + + + + 2196 + Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement + + + Preferential parent + + + + + + 2237 + Hypoparathyroidism-sensorineural deafness-renal disease syndrome + + + Preferential parent + + + + + + 2613 + Nail-patella-like renal disease + + + Preferential parent + + + + + + 2670 + Pierson syndrome + + + Preferential parent + + + + + + 3032 + NPHP3-related Meckel-like syndrome + + + Preferential parent + + + + + + 3145 + Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome + + + Preferential parent + + + + + + 3156 + Senior-Loken syndrome + + + Preferential parent + + + + + + 3327 + Thyrocerebrorenal syndrome + + + Preferential parent + + + + + + 2666 + Adult familial nephronophthisis-spastic quadriparesia syndrome + + + Preferential parent + + + + + + 416 + Primary hyperoxaluria + + + Preferential parent + + + + + + 655 + Nephronophthisis + + + Preferential parent + + + + + + 656 + Hereditary steroid-resistant nephrotic syndrome + + + Preferential parent + + + + + + 220 + Denys-Drash syndrome + + + Preferential parent + + + + + + 347 + Frasier syndrome + + + Preferential parent + + + + + + 18 + Distal renal tubular acidosis + + + Preferential parent + + + + + + 2197 + Idiopathic hypercalciuria + + + Preferential parent + + + + + + 1018 + X-linked Alport syndrome-diffuse leiomyomatosis + + + Preferential parent + + + + + + 1652 + Dent disease + + + Preferential parent + + + + + + 757 + Pseudohypoaldosteronism type 2 + + + Preferential parent + + + + + + 223 + Arginine vasopressin resistance + + + Preferential parent + + + + + + 3337 + Primary Fanconi renotubular syndrome + + + Preferential parent + + + + + + 839 + Congenital nephrotic syndrome, Finnish type + + + Preferential parent + + + + + + 756 + Pseudohypoaldosteronism type 1 + + + Preferential parent + + + + + + 30924 + Primary hypomagnesemia with secondary hypocalcemia + + + Preferential parent + + + + + + 31043 + Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement + + + Preferential parent + + + + + + 34145 + Immunoglobulin A nephropathy + + + Preferential parent + + + + + + 34149 + Autosomal dominant tubulointerstitial kidney disease + + + Preferential parent + + + + + + 34528 + Autosomal dominant primary hypomagnesemia with hypocalciuria + + + Preferential parent + + + + + + 47159 + Proximal renal tubular acidosis + + + Preferential parent + + + + + + 54370 + Primary membranoproliferative glomerulonephritis + + + Preferential parent + + + + + + 69061 + Idiopathic steroid-sensitive nephrotic syndrome + + + Preferential parent + + + + + + 69063 + Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization + + + Preferential parent + + + + + + 69076 + Familial renal glucosuria + + + Preferential parent + + + + + + 71273 + Renal nutcracker syndrome + + + Preferential parent + + + + + + 73224 + Kidney tubulopathy-dilated cardiomyopathy syndrome + + + Preferential parent + + + + + + 79233 + Hypoxanthine guanine phosphoribosyltransferase partial deficiency + + + Preferential parent + + + + + + 84081 + Senior-Boichis syndrome + + + Preferential parent + + + + + + 84087 + Collagen type III glomerulopathy + + + Preferential parent + + + + + + 84090 + Fibronectin glomerulopathy + + + Preferential parent + + + + + + 85450 + Hereditary amyloidosis with primary renal involvement + + + Preferential parent + + + + + + 88659 + Autosomal dominant progressive nephropathy with hypertension + + + Preferential parent + + + + + + 88660 + Hypertension due to gain-of-function mutations in the mineralocorticoid receptor + + + Preferential parent + + + + + + 88917 + X-linked Alport syndrome + + + Preferential parent + + + + + + 88918 + Autosomal dominant Alport syndrome + + + Preferential parent + + + + + + 88919 + Autosomal recessive Alport syndrome + + + Preferential parent + + + + + + 88938 + Pseudohypoaldosteronism type 2A + + + Preferential parent + + + + + + 88939 + Pseudohypoaldosteronism type 2B + + + Preferential parent + + + + + + 88940 + Pseudohypoaldosteronism type 2C + + + Preferential parent + + + + + + 88949 + MUC1-related autosomal dominant tubulointerstitial kidney disease + + + Preferential parent + + + + + + 88950 + UMOD-related autosomal dominant tubulointerstitial kidney disease + + + Preferential parent + + + + + + 89938 + Bartter syndrome type 4 + + + Preferential parent + + + + + + 91136 + Acquired monoclonal Ig light chain-associated Fanconi syndrome + + + Preferential parent + + + + + + 91137 + Immunotactoid or fibrillary glomerulopathy + + + Preferential parent + + + + + + 91500 + Tubulointerstitial nephritis and uveitis syndrome + + + Preferential parent + + + + + + 93126 + Pauci-immune glomerulonephritis + + + Preferential parent + + + + + + 93164 + Transient pseudohypoaldosteronism + + + Preferential parent + + + + + + 93548 + Glomerular disease + + + Preferential parent + + + + + + 93560 + AApoAI amyloidosis + + + Preferential parent + + + + + + 93561 + ALys amyloidosis + + + Preferential parent + + + + + + 93562 + AFib amyloidosis + + + Preferential parent + + + + + + 93571 + Dense deposit disease + + + Preferential parent + + + + + + 93573 + Thrombotic microangiopathy + + + Preferential parent + + + + + + 93581 + Atypical hemolytic uremic syndrome with anti-factor H antibodies + + + Preferential parent + + + + + + 93587 + Genetic cystic renal disease + + + Preferential parent + + + + + + 93589 + Late-onset nephronophthisis + + + Preferential parent + + + + + + 93591 + Infantile nephronophthisis + + + Preferential parent + + + + + + 93592 + Juvenile nephronophthisis + + + Preferential parent + + + + + + 93593 + Nephropathy secondary to a storage or other metabolic disease + + + Preferential parent + + + + + + 93598 + Primary hyperoxaluria type 1 + + + Preferential parent + + + + + + 93599 + Primary hyperoxaluria type 2 + + + Preferential parent + + + + + + 93600 + Primary hyperoxaluria type 3 + + + Preferential parent + + + + + + 93601 + Xanthinuria type I + + + Preferential parent + + + + + + 93602 + Xanthinuria type II + + + Preferential parent + + + + + + 93603 + Rare renal tubular disease + + + Preferential parent + + + + + + 93605 + Bartter syndrome type 3 + + + Preferential parent + + + + + + 93606 + Nephrogenic syndrome of inappropriate antidiuresis + + + Preferential parent + + + + + + 93607 + Autosomal recessive proximal renal tubular acidosis + + + Preferential parent + + + + + + 93608 + Autosomal dominant distal renal tubular acidosis + + + Preferential parent + + + + + + 93610 + Distal renal tubular acidosis with anemia + + + Preferential parent + + + + + + 93612 + Cystinuria type A + + + Preferential parent + + + + + + 93613 + Cystinuria type B + + + Preferential parent + + + + + + 93614 + Hematological disorder with renal involvement + + + Preferential parent + + + + + + 93618 + Rare cause of hypertension + + + Preferential parent + + + + + + 93622 + Dent disease type 1 + + + Preferential parent + + + + + + 93623 + Dent disease type 2 + + + Preferential parent + + + + + + 94088 + Hereditary renal hypouricemia + + + Preferential parent + + + + + + 97560 + Primary membranous glomerulonephritis + + + Preferential parent + + + + + + 97563 + Pauci-immune glomerulonephritis with ANCA + + + Preferential parent + + + + + + 97564 + Pauci-immune glomerulonephritis without ANCA + + + Preferential parent + + + + + + 97566 + Non-amyloid fibrillary glomerulopathy + + + Preferential parent + + + + + + 97567 + Immunotactoid glomerulopathy + + + Preferential parent + + + + + + 98056 + Rare genetic renal disease + + + Preferential parent + + + + + + 156162 + Renal ciliopathy + + + Preferential parent + + + + + + 156629 + Rare genetic cause of hypertension + + + Preferential parent + + + + + + 171871 + Renal pseudohypoaldosteronism type 1 + + + Preferential parent + + + + + + 171876 + Generalized pseudohypoaldosteronism type 1 + + + Preferential parent + + + + + + 183586 + Genetic glomerular disease + + + Preferential parent + + + + + + 183589 + Genetic thrombotic microangiopathy + + + Preferential parent + + + + + + 183592 + Genetic renal tubular disease + + + Preferential parent + + + + + + 199326 + Isolated autosomal dominant hypomagnesemia, Glaudemans type + + + Preferential parent + + + + + + 217330 + REN-related autosomal dominant tubulointerstitial kidney disease + + + Preferential parent + + + + + + 238269 + AApoAII amyloidosis + + + Preferential parent + + + + + + 244275 + De novo thrombotic microangiopathy after kidney transplantation + + + Preferential parent + + + + + + 244305 + Dominant hypophosphatemia with nephrolithiasis or osteoporosis + + + Preferential parent + + + + + + 268316 + Complication in hemodialysis + + + Preferential parent + + + + + + 280406 + Familial steroid-resistant nephrotic syndrome with sensorineural deafness + + + Preferential parent + + + + + + 300333 + Nephrotic 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Preferential parent + + + + + + 567564 + Nephrotic syndrome without extrarenal manifestations + + + Preferential parent + + + + + + 570371 + Bartter syndrome type 5 + + + Preferential parent + + + + + + 576742 + Genetic hemolytic uremic syndrome + + + Preferential parent + + + + + + 620217 + Bartter syndrome type 1 + + + Preferential parent + + + + + + 620220 + Bartter syndrome type 2 + + + Preferential parent + + + + + + 620363 + Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome + + + Preferential parent + + + + + + 620368 + EGF-related primary hypomagnesemia with intellectual disability + + + Preferential parent + + + + + + 620371 + Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation + + + Preferential parent + + + + + + 653722 + Digenic Alport syndrome + + + Preferential parent + + + + + + 664912 + Neonatal renal venous thrombosis + + + Preferential parent + + + + + + 93665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93665 + Autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93616 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 + Hemoglobin H disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93618 + Rare cause of hypertension + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93619 + Rare renal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 93622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 + Dent disease type 1 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 + Dent disease type 2 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672 + Juvenile dermatomyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685 + Unicentric Castleman disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93890 + Rare developmental defect during embryogenesis + + + + + 881 + Turner syndrome + + + Preferential parent + + + + + + 138 + CHARGE syndrome + + + Preferential parent + + + + + + 870 + Down syndrome + + + Preferential parent + + + + + + 908 + Fragile X syndrome + + + Preferential parent + + + + + + 534 + Oculocerebrorenal syndrome of Lowe + + + Preferential parent + + + + + + 567 + 22q11.2 deletion syndrome + + + Preferential parent + + + + + + 739 + Prader-Willi syndrome + + + Preferential parent + + + + + + 904 + Williams syndrome + + + Preferential parent + + + + + + 280 + Wolf-Hirschhorn syndrome + + + Preferential parent + + + + + + 783 + Rubinstein-Taybi syndrome + + + Preferential parent + + + + + + 2182 + Hydrocephalus with stenosis of the aqueduct of Sylvius + + + Preferential parent + + + + + + 181 + X-linked hypohidrotic ectodermal dysplasia + + + Preferential parent + + + + + + 649 + Norrie disease + + + Preferential parent + + + + + + 510 + Lesch-Nyhan syndrome + + + Preferential parent + + + + + + 281 + Monosomy 5p syndrome + + + Preferential parent + + + + + + 752 + 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency + + + Preferential parent + + + + + + 648 + Noonan syndrome + + + Preferential parent + + + + + + 377 + Gorlin syndrome + + + Preferential parent + + + + + + 857 + Townes-Brocks syndrome + + + Preferential parent + + + + + + 894 + Waardenburg syndrome type 1 + + + Preferential parent + + + + + + 895 + Waardenburg syndrome type 2 + + + Preferential parent + + + + + + 896 + Waardenburg syndrome type 3 + + + Preferential parent + + + + + + 893 + WAGR syndrome + + + Preferential parent + + + + + + 710 + Pfeiffer syndrome + + + Preferential parent + + + + + + 794 + Saethre-Chotzen syndrome + + + Preferential parent + + + + + + 774 + Hereditary hemorrhagic telangiectasia + + + Preferential parent + + + + + + 107 + BOR syndrome + + + Preferential parent + + + + + + 126 + Blepharophimosis-ptosis-epicanthus inversus syndrome + + + Preferential parent + + + + + + 192 + Coffin-Lowry syndrome + + + Preferential parent + + + + + + 201 + Cowden syndrome + + + Preferential parent + + + + + + 207 + Crouzon syndrome + + + Preferential parent + + + + + + 195 + Cat-eye syndrome + + + Preferential parent + + + + + + 52 + Alagille syndrome + + + Preferential parent + + + + + + 50 + Aicardi syndrome + + + Preferential parent + + + + + + 116 + Beckwith-Wiedemann syndrome + + + Preferential parent + + + + + + 87 + Apert syndrome + + + Preferential parent + + + + + + 564 + Meckel syndrome + + + Preferential parent + + + + + + 568 + Microphthalmia, Lenz type + + + Preferential parent + + + + + + 861 + Treacher-Collins syndrome + + + Preferential parent + + + + + + 1991 + Cleft lip with or without cleft palate + + + Preferential parent + + + + + + 199 + Cornelia de Lange syndrome + + + Preferential parent + + + + + + 2162 + Holoprosencephaly + + + Preferential parent + + + + + + 998 + Albinism-deafness syndrome + + + Preferential parent + + + + + + 999 + Ermine phenotype + + + Preferential parent + + + + + + 1465 + Coffin-Siris syndrome + + + Preferential parent + + + + + + 753 + 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency + + + Preferential parent + + + + + + 1598 + Monosomy 18p syndrome + + + Preferential parent + + + + + + 1600 + Monosomy 18q syndrome + + + Preferential parent + + + + + + 1636 + Distal monosomy 7q36 syndrome + + 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syndrome + + + Preferential parent + + + + + + 9 + Tetrasomy X syndrome + + + Preferential parent + + + + + + 2614 + Nail-patella syndrome + + + Preferential parent + + + + + + 915 + Aarskog-Scott syndrome + + + Preferential parent + + + + + + 36 + Acrocallosal syndrome + + + Preferential parent + + + + + + 245 + Nager syndrome + + + Preferential parent + + + + + + 1046 + Lethal hemolytic anemia-genital anomalies syndrome + + + Preferential parent + + + + + + 1059 + Blue rubber bleb nevus + + + Preferential parent + + + + + + 1065 + Aniridia-cerebellar ataxia-intellectual disability syndrome + + + Preferential parent + + + + + + 1143 + Neurogenic arthrogryposis multiplex congenita + + + Preferential parent + + + + + + 1146 + Distal arthrogryposis type 1 + + + Preferential parent + + + + + + 1147 + Sheldon-Hall syndrome + + + Preferential parent + + + + + + 1154 + Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome + + + Preferential parent + + + + + + 125 + Bloom syndrome + + + Preferential parent + + + + + + 1406 + Charlie M syndrome + + + Preferential parent + + + + + + 1414 + Cholestasis-lymphedema syndrome + + + Preferential parent + + + + + + 1442 + Ring chromosome 18 syndrome + + + Preferential parent + + + + + + 193 + Cohen syndrome + + + Preferential parent + + + + + + 1488 + Cooper-Jabs syndrome + + + Preferential parent + + + + + + 200 + Isolated corpus callosum agenesis + + + Preferential parent + + + + + + 1538 + Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome + + + Preferential parent + + + + + + 1556 + Cutis marmorata telangiectatica congenita + + + Preferential parent + + + + + + 217 + Isolated Dandy-Walker malformation + + + Preferential parent + + + + + + 235 + Dubowitz syndrome + + + Preferential parent + + + + + + 1770 + XY type gonadal dysgenesis-associated anomalies syndrome + + + Preferential parent + + + + + + 246 + Postaxial acrofacial dysostosis + + + Preferential parent + + + + + + 1880 + Ebstein malformation of the tricuspid valve + + + Preferential parent + + + + + + 1915 + Fetal alcohol syndrome + + + Preferential parent + + + + + + 295 + Fetal parvovirus syndrome + + + Preferential parent + + + + + + 1931 + Frontal encephalocele + + + Preferential parent + + + + + + 2053 + Freeman-Sheldon syndrome + + + Preferential parent + + + + + + 2135 + Cutaneous mastocytosis-deafness-microtia syndrome + + + Preferential parent + + + + + + 2140 + Congenital diaphragmatic hernia + + + Preferential parent + + + + + + 2185 + Congenital hydrocephalus + + + Preferential parent + + + + + + 2248 + Hypoplastic left heart syndrome + + + Preferential parent + + + + + + 2300 + Isolated multiple intestinal atresia + + + Preferential parent + + + + + + 2301 + Congenital short bowel syndrome + + + Preferential parent + + + + + + 2308 + Jacobsen syndrome + + + Preferential parent + + + + + + 2318 + Joubert syndrome with oculorenal defect + + + Preferential parent + + + + + + 477 + KID syndrome + + + Preferential parent + + + + + + 502 + Trichorhinophalangeal syndrome type 2 + + + Preferential parent + + + + + + 2377 + Laurence-Moon syndrome + + + Preferential parent + + + + + + 2414 + Congenital pulmonary lymphangiectasia + + + Preferential parent + + + + + + 2430 + Congenital macroglossia + + + Preferential parent + + + + + + 2444 + Congenital pulmonary airway malformation + + + Preferential parent + + + + + + 2466 + MASA syndrome + + + Preferential parent + + + + + + 570 + Moebius syndrome + + + Preferential parent + + + + + + 2612 + Linear nevus sebaceus syndrome + + + Preferential parent + + + + + + 660 + Omphalocele + + + Preferential parent + + + + + + 884 + Pallister-Killian syndrome + + + Preferential parent + + + + + + 718 + Isolated Pierre Robin sequence + + + Preferential parent + + + + + + 744 + Proteus syndrome + + + Preferential parent + + + + + + 2970 + Prune belly syndrome + + + Preferential parent + + + + + + 2982 + 46,XX difference of sex development + + + 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+ + + 84 + Fanconi anemia + + + Preferential parent + + + + + + 191 + Cockayne syndrome + + + Preferential parent + + + + + + 805 + Tuberous sclerosis complex + + + Preferential parent + + + + + + 886 + Usher syndrome + + + Preferential parent + + + + + + 3440 + Waardenburg syndrome + + + Preferential parent + + + + + + 984 + Pulmonary agenesis + + + Preferential parent + + + + + + 1201 + Small bowel atresia + + + Preferential parent + + + + + + 1202 + Larynx atresia + + + Preferential parent + + + + + + 1199 + Esophageal atresia + + + Preferential parent + + + + + + 322 + Exstrophy-epispadias complex + + + Preferential parent + + + + + + 2368 + Gastroschisis + + + Preferential parent + + + + + + 2512 + Autosomal recessive primary microcephaly + + + Preferential parent + + + + + + 2913 + Non-syndromic polydactyly + + + Preferential parent + + + + + + 755 + Leydig cell hypoplasia + + + Preferential parent + + + + + + 2416 + Congenital primary lymphedema without systemic or visceral involvement + + + Preferential parent + + + + + + 1531 + Craniosynostosis + + + Preferential parent + + + + + + 2040 + Congenital respiratory-biliary fistula + + + Preferential parent + + + + + + 1928 + Congenital lobar emphysema + + + Preferential parent + + + + + + 293 + Congenital herpes simplex virus infection + + + Preferential parent + + + + + + 1209 + Tricuspid atresia + + + Preferential parent + + + + + + 1478 + Interatrial communication + + + Preferential parent + + + + + + 3303 + Tetralogy of Fallot + + + Preferential parent + + + + + + 2177 + Hydranencephaly + + + Preferential parent + + + + + + 1329 + Complete atrioventricular septal defect + + + Preferential parent + + + + + + 1446 + Ring chromosome 22 syndrome + + + Preferential parent + + + + + + 847 + X-linked alpha-thalassemia-intellectual disability syndrome + + + Preferential parent + + + + + + 574 + 21q deletion syndrome + + + Preferential parent + + + + + + 373 + Simpson-Golabi-Behmel syndrome + + + Preferential parent + + + + + + 638 + Neurofibromatosis-Noonan syndrome + + + Preferential parent + + + + + + 627 + Nance-Horan syndrome + + + Preferential parent + + + + + + 3027 + Caudal regression syndrome + + + Preferential parent + + + + + + 897 + Waardenburg-Shah syndrome + + + Preferential parent + + + + + + 902 + Werner syndrome + + + Preferential parent + + + + + + 888 + Van der Woude syndrome + + + Preferential parent + + + + + + 709 + Peters plus syndrome + + + Preferential parent + + + + + + 3103 + Roberts syndrome + + + Preferential parent + + + + + + 776 + Lujan-Fryns syndrome + + + Preferential parent + + + + + + 1473 + Uveal coloboma-cleft lip and palate-intellectual disability + + + Preferential parent + + + + + + 189 + Hidrotic ectodermal dysplasia + + + Preferential parent + + + + + + 48 + Congenital bilateral absence of vas deferens + + + Preferential parent + + + + + + 243 + 46,XX gonadal dysgenesis + + + Preferential parent + + + + + + 475 + Isolated Joubert syndrome + + + Preferential parent + + + + + + 392 + Holt-Oram syndrome + + + Preferential parent + + + + + + 2445 + Conotruncal heart malformations + + + Preferential parent + + + + + + 500 + Noonan syndrome with multiple lentigines + + + Preferential parent + + + + + + 2311 + Autosomal recessive spondylocostal dysostosis + + + Preferential parent + + + + + + 242 + 46,XY complete gonadal dysgenesis + + + Preferential parent + + + + + + 2052 + Fraser syndrome + + + Preferential parent + + + + + + 2014 + Cleft palate + + + Preferential parent + + + + + + 10 + 48,XXYY syndrome + + + Preferential parent + + + + + + 557 + Non-syndromic anorectal malformation + + + Preferential parent + + + + + + 1308 + C syndrome + + + Preferential parent + + + + + + 1354 + Heart defects-limb shortening syndrome + + + Preferential parent + + + + + + 1358 + Carey-Fineman-Ziter syndrome + + + Preferential parent + + + + + + 1437 + Ring chromosome 1 syndrome + + + Preferential parent + + + + + + 1438 + Ring chromosome 10 syndrome + + + Preferential parent + + + + + + 1439 + Ring chromosome 12 syndrome + + + Preferential parent + + + + + + 1444 + Ring chromosome 20 syndrome + + + Preferential parent + + + + + + 1447 + Ring chromosome 4 syndrome + + + Preferential parent + + + + + + 1448 + Ring chromosome 6 syndrome + + + Preferential parent + + + + + + 1450 + Ring chromosome 8 syndrome + + + Preferential parent + + + + + + 1552 + Currarino syndrome + + + Preferential parent + + + + + + 1580 + Distal deletion 10p syndrome + + + Preferential parent + + + + + + 1581 + Non-distal deletion 10q syndrome + + + Preferential parent + + + + + + 1587 + Monosomy 13q14 syndrome + + + Preferential parent + + + + + + 1590 + Distal deletion 13q syndrome + + + Preferential parent + + + + + + 1597 + Distal deletion 17q syndrome + + + Preferential parent + + + + + + 1620 + Distal deletion 3p syndrome + + + Preferential parent + + + + + + 1621 + 3q13 microdeletion syndrome + + + Preferential parent + + + + + + 1627 + Deletion 5q35 syndrome + + + Preferential parent + + + + + + 1643 + Xp22.3 microdeletion syndrome + + + Preferential parent + + + + + + 1695 + Non-distal duplication 10q syndrome + + + Preferential parent + + + + + + 1699 + Trisomy 12p syndrome + + + Preferential parent + + + + + + 1702 + Non-distal duplication 13q syndrome + + + Preferential parent + + + + + + 1703 + Mosaic trisomy 14 syndrome + + + Preferential parent + + + + + + 1705 + Distal duplication 14q syndrome + + + Preferential parent + + + + + + 1713 + 17p11.2 microduplication syndrome + + + Preferential parent + + + + + + 1738 + Trisomy 4p syndrome + + + Preferential parent + + + + + + 1742 + Trisomy 5p syndrome + + + Preferential parent + + + + + + 1745 + Distal duplication 6p syndrome + + + Preferential parent + + + + + + 1752 + Trisomy 8q syndrome + + + Preferential parent + + + + + + 1762 + Proximal Xq28 duplication syndrome + + + Preferential parent + + + + + + 1946 + Amelocerebrohypohidrotic syndrome + + + Preferential parent + + + + + + 1948 + Epilepsy-microcephaly-skeletal dysplasia syndrome + + + Preferential parent + + + + + + 3176 + Spina bifida-hypospadias syndrome + + + Preferential parent + + + + + + 3305 + Tetraploidy syndrome + + + Preferential parent + + + + + + 3306 + Inverted duplicated chromosome 15 syndrome + + + Preferential parent + + + + + + 3310 + Tetrasomy 9p syndrome + + + Preferential parent + + + + + + 3375 + Trisomy X syndrome + + + Preferential parent + + + + + + 3376 + Triploidy syndrome + + + Preferential parent + + + + + + 1692 + Mosaic trisomy 1 syndrome + + + Preferential parent + + + + + + 1698 + Mosaic trisomy 12 syndrome + + + Preferential parent + + + + + + 1706 + Mosaic trisomy 15 syndrome + + + Preferential parent + + + + + + 1708 + Mosaic trisomy 16 syndrome + + + Preferential parent + + + + + + 1711 + Mosaic trisomy 17 syndrome + + + Preferential parent + + + + + + 1445 + Ring chromosome 21 syndrome + + + Preferential parent + + + + + + 7 + 3C syndrome + + + Preferential parent + + + + + + 916 + Aase-Smith syndrome type 1 + + + Preferential parent + + + + + + 920 + Ablepharon macrostomia syndrome + + + Preferential parent + + + + + + 921 + Abruzzo-Erickson syndrome + + + Preferential parent + + + + + + 929 + Achalasia-microcephaly syndrome + + + Preferential parent + + + + + + 931 + Isolated acheiropodia + + + Preferential parent + + + + + + 945 + Acalvaria + + + Preferential parent + + + + + + 949 + Acrocraniofacial dysostosis + + + Preferential parent + + + + + + 952 + Acrofacial dysostosis, Weyers type + + + Preferential parent + + + + + + 957 + Acropectorovertebral dysplasia + + + Preferential parent + + + + + + 958 + Acro-renal-mandibular syndrome + + + Preferential parent + + + + + + 959 + Acro-renal-ocular syndrome + + + Preferential parent + + + + + + 971 + Acrorenal syndrome + + + Preferential parent + + + + + + 973 + Isolated absence/hypoplasia of fingers excluding thumb, unilateral + + + Preferential parent + + + + + + 974 + Adams-Oliver syndrome + + + Preferential parent + + + + + + 978 + ADULT syndrome + + + Preferential parent + + + + + + 981 + Internal carotid absence + + + Preferential parent + + + + + + 983 + Testicular regression syndrome + + + Preferential parent + + + + + + 988 + Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome + + + Preferential parent + + + + + + 989 + Hypoglossia-hypodactyly syndrome + + + Preferential parent + + + + + + 990 + Agnathia-holoprosencephaly-situs inversus syndrome + + + Preferential parent + + + + + + 991 + PAGOD syndrome + + + Preferential parent + + + + + + 994 + Fetal akinesia deformation sequence + + + Preferential parent + + + + + + 1001 + 2q37 microdeletion syndrome + + + Preferential parent + + + + + + 1003 + Scalp defects-postaxial polydactyly syndrome + + + Preferential parent + + + + + + 1005 + Alopecia-contractures-dwarfism-intellectual disability syndrome + + + Preferential parent + + + + + + 1008 + Alopecia-epilepsy-pyorrhea-intellectual disability syndrome + + + Preferential parent + + + + + + 1014 + Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome + + + Preferential parent + + + + + + 64 + Alström syndrome + + + Preferential parent + + + + + + 1028 + Amelo-onycho-hypohidrotic syndrome + + + Preferential parent + + + + + + 1037 + Arthrogryposis multiplex congenita + + + Preferential parent + + + + + + 1041 + Hydrops fetalis + + + Preferential parent + + + + + + 1052 + Mosaic variegated aneuploidy syndrome + + + Preferential parent + + + + + + 1053 + Vein of Galen malformation + + + Preferential parent + + + + + + 1055 + Congenital left ventricular aneurysm + + + Preferential parent + + + + + + 1064 + Aniridia-renal agenesis-psychomotor retardation syndrome + + + Preferential parent + + + + + + 1067 + Aniridia-ptosis-intellectual disability-familial obesity syndrome + + + Preferential parent + + + + + + 1068 + Aniridia-intellectual disability syndrome + + + Preferential parent + + + + + + 1069 + Aniridia-absent patella syndrome + + + Preferential parent + + + + + + 1071 + Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome + + + Preferential parent + + + + + + 1072 + Ankyloblepharon filiforme adnatum-cleft palate syndrome + + + Preferential parent + + + + + + 1074 + Ankyloblepharon filiforme adnatum-imperforate anus syndrome + + + Preferential parent + + + + + + 1078 + Thumb stiffness-brachydactyly-intellectual disability syndrome + + + Preferential parent + + + + + + 1094 + Anonychia-microcephaly syndrome + + + Preferential parent + + + + + + 1104 + Anophthalmia plus syndrome + + + Preferential parent + + + + + + 1106 + Microphthalmia with limb anomalies + + + Preferential parent + + + + + + 83 + Antley-Bixler syndrome + + + Preferential parent + + + + + + 1110 + Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome + + + Preferential parent + + + + + + 1112 + Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome + + + Preferential parent + + + + + + 1113 + Aphalangy-syndactyly-microcephaly syndrome + + + Preferential parent + + + + + + 1116 + Aplasia cutis congenita-intestinal lymphangiectasia syndrome + + + Preferential parent + + + + + + 1117 + Aplasia cutis-myopia syndrome + + + Preferential parent + + + + + + 1118 + Fibular aplasia-ectrodactyly syndrome + + + Preferential parent + + + + + + 1120 + Lung agenesis-heart defect-thumb anomalies syndrome + + + Preferential parent + + + + + + 1121 + Radial deficiency-tibial hypoplasia syndrome + + + Preferential parent + + + + + + 1122 + Ulnar hypoplasia-split foot syndrome + + + Preferential parent + + + + + + 1126 + Aprosencephaly cerebellar dysgenesis + + + Preferential parent + + + + + + 1131 + X-linked mandibulofacial dysostosis + + + Preferential parent + + + + + + 1133 + AREDYLD syndrome + + + Preferential parent + + + + + + 1144 + Arthrogryposis-like hand anomaly-sensorineural deafness syndrome + + + Preferential parent + + + + + + 1145 + Infantile-onset X-linked spinal muscular atrophy + + + Preferential parent + + + + + + 1149 + Kuskokwim syndrome + + + Preferential parent + + + + + + 1150 + Arthrogryposis multiplex congenita-whistling face syndrome + + + Preferential parent + + + + + + 1166 + Congenital unilateral hypoplasia of depressor anguli oris + + + Preferential parent + + + + + + 1174 + Cerebellar ataxia-ectodermal dysplasia syndrome + + + Preferential parent + + + + + + 1180 + Ataxia-hypogonadism-choroidal dystrophy syndrome + + + Preferential parent + + + + + + 1184 + Ataxia-photosensitivity-short stature syndrome + + + Preferential parent + + + + + + 1185 + Spinocerebellar ataxia-dysmorphism syndrome + + + Preferential parent + + + + + + 1187 + Lethal ataxia with deafness and optic atrophy + + + Preferential parent + + + + + + 1188 + Ataxia-deafness-intellectual disability syndrome + + + Preferential parent + + + + + + 1193 + Atkin-Flaitz syndrome + + + Preferential parent + + + + + + 1198 + Colonic atresia + + + Preferential parent + + + + + + 1200 + Burn-McKeown syndrome + + + Preferential parent + + + + + + 1203 + Duodenal atresia + + + Preferential parent + + + + + + 1208 + Pulmonary atresia-intact ventricular septum syndrome + + + Preferential parent + + + + + + 1225 + Baller-Gerold syndrome + + + Preferential parent + + + + + + 1228 + Banki syndrome + + + Preferential parent + + + + + + 109 + Bannayan-Riley-Ruvalcaba syndrome + + + Preferential parent + + + + + + 1231 + Barber-Say syndrome + + + Preferential parent + + + + + + 1234 + Bartsocas-Papas syndrome + + + Preferential parent + + + + + + 1236 + Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome + + + Preferential parent + + + + + + 115 + Congenital contractural arachnodactyly + + + Preferential parent + + + + + + 1237 + Beemer-Ertbruggen syndrome + + + Preferential parent + + + + + + 1239 + Behr syndrome + + + Preferential parent + + + + + + 1241 + Bencze syndrome + + + Preferential parent + + + + + + 1248 + Maxillonasal dysplasia + + + Preferential parent + + + + + + 1252 + Blepharonasofacial malformation syndrome + + + Preferential parent + + + + + + 1253 + Ascher syndrome + + + Preferential parent + + + + + + 1259 + Blepharoptosis-myopia-ectopia lentis syndrome + + + Preferential parent + + + + + + 1261 + Bonnemann-Meinecke-Reich syndrome + + + Preferential parent + + + + + + 1262 + Böök syndrome + + + Preferential parent + + + + + + 127 + Borjeson-Forssman-Lehmann syndrome + + + Preferential parent + + + + + + 1264 + Tricho-retino-dento-digital syndrome + + + Preferential parent + + + + + + 1270 + Bowen-Conradi syndrome + + + Preferential parent + + + + + + 1275 + Brachydactyly-elbow wrist dysplasia syndrome + + + Preferential parent + + + + + + 1276 + Brachydactyly-arterial hypertension syndrome + + + Preferential parent + + + + + + 1278 + Brachydactyly-preaxial hallux varus syndrome + + + Preferential parent + + + + + + 1292 + Brachymorphism-onychodysplasia-dysphalangism syndrome + + + Preferential parent + + + + + + 1295 + Brachytelephalangy-dysmorphism-Kallmann syndrome + + + Preferential parent + + + + + + 1296 + Lambert syndrome + + + Preferential parent + + + + + + 1297 + Branchio-oculo-facial syndrome + + + Preferential parent + + + + + + 1299 + Branchioskeletogenital syndrome + + + Preferential parent + + + + + + 1300 + Autosomal dominant popliteal pterygium syndrome + + + Preferential parent + + + + + + 1305 + Feingold syndrome + + + Preferential parent + + + + + + 1307 + Distal limb deficiencies-micrognathia syndrome + + + Preferential parent + + + + + + 1319 + Camptobrachydactyly + + + Preferential parent + + + + + + 1321 + Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome + + + Preferential parent + + + + + + 1323 + Camptodactyly-joint contractures-facial skeletal defects syndrome + + + Preferential parent + + + + + + 1325 + Camptodactyly-taurinuria syndrome + + + Preferential parent + + + + + + 1326 + Camptodactyly syndrome, Guadalajara type 2 + + + Preferential parent + + + + + + 1327 + Camptodactyly syndrome, Guadalajara type 1 + + + Preferential parent + + + + + + 2856 + Persistent Müllerian duct syndrome + + + Preferential parent + + + + + + 1335 + Pentalogy of Cantrell + + + Preferential parent + + + + + + 1338 + Heart defect-tongue hamartoma-polysyndactyly syndrome + + + Preferential parent + + + + + + 1340 + Cardiofaciocutaneous syndrome + + + Preferential parent + + + + + + 1342 + Heart-hand syndrome type 3 + + + Preferential parent + + + + + + 1350 + Heart-hand syndrome type 2 + + + Preferential parent + + + + + + 1352 + Atrioventricular defect-blepharophimosis-radial and anal defect syndrome + + + Preferential parent + + + + + + 1355 + Congenital heart defect-round face-developmental delay syndrome + + + Preferential parent + + + + + + 1366 + Autosomal recessive palmoplantar keratoderma and congenital alopecia + + + Preferential parent + + + + + + 1368 + Cataract-ataxia-deafness syndrome + + + Preferential parent + + + + + + 1373 + Cataract-aberrant oral frenula-growth delay syndrome + + + Preferential parent + + + + + + 1375 + Cataract-hypertrichosis-intellectual disability syndrome + + + Preferential parent + + + + + + 1377 + Cataract-microcornea syndrome + + + Preferential parent + + + + + + 1380 + Cataract-nephropathy-encephalopathy syndrome + + + Preferential parent + + + + + + 1387 + Cataract-intellectual disability-hypogonadism syndrome + + + Preferential parent + + + + + + 1388 + Catel-Manzke syndrome + + + Preferential parent + + + + + + 1389 + Cortical blindness-intellectual disability-polydactyly syndrome + + + Preferential parent + + + + + + 1390 + Night blindness-skeletal anomalies-dysmorphism syndrome + + + Preferential parent + + + + + + 1393 + Cerebrocostomandibular syndrome + + + Preferential parent + + + + + + 1394 + Cerebrofaciothoracic dysplasia + + + Preferential parent + + + + + + 1397 + Hydrocephaly-cerebellar agenesis syndrome + + + Preferential parent + + + + + + 1398 + Isolated cerebellar agenesis + + + Preferential parent + + + + + + 1399 + Richards-Rundle syndrome + + + Preferential parent + + + + + + 1401 + CHAND syndrome + + + Preferential parent + + + + + + 1412 + Tarsal-carpal coalition syndrome + + + Preferential parent + + + + + + 1433 + Choroidal atrophy-alopecia syndrome + + + Preferential parent + + + + + + 1435 + Xq21 microdeletion syndrome + + + Preferential parent + + + + + + 1440 + Ring chromosome 14 syndrome + + + Preferential parent + + + + + + 1443 + Ring chromosome 19 syndrome + + + Preferential parent + + + + + + 1449 + Ring chromosome 7 syndrome + + + Preferential parent + + + + + + 1454 + Joubert syndrome with hepatic defect + + + Preferential parent + + + + + + 190 + Coats disease + + + Preferential parent + + + + + + 1458 + CODAS syndrome + + + Preferential parent + + + + + + 1466 + COFS syndrome + + + Preferential parent + + + + + + 1471 + Coloboma of macula-brachydactyly type B syndrome + + + Preferential parent + + + + + + 1484 + Contractures-ectodermal dysplasia-cleft lip/palate syndrome + + + Preferential parent + + + + + + 1486 + Lethal congenital contracture syndrome type 1 + + + Preferential parent + + + + + + 1487 + Cooks syndrome + + + Preferential parent + + + + + + 1490 + Corneal dystrophy-perceptive deafness syndrome + + + Preferential parent + + + + + + 1493 + Vici syndrome + + + Preferential parent + + + + + + 1495 + Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome + + + Preferential parent + + + + + + 1497 + X-linked complicated corpus callosum dysgenesis + + + Preferential parent + + + + + + 1507 + Autosomal recessive Robinow syndrome + + + Preferential parent + + + + + + 1509 + Coxopodopatellar syndrome + + + Preferential parent + + + + + + 1512 + Crane-Heise syndrome + + + Preferential parent + + + + + + 1514 + Craniodigital-intellectual disability syndrome + + + Preferential parent + + + + + + 1515 + Cranioectodermal dysplasia + + + Preferential parent + + + + + + 1516 + Non-syndromic bilambdoid and sagittal craniosynostosis + + + Preferential parent + + + + + + 1517 + Cantú syndrome + + + Preferential parent + + + + + + 1519 + SPECC1L-related hypertelorism syndrome + + + Preferential parent + + + + + + 1520 + Craniofrontonasal dysplasia + + + Preferential parent + + + + + + 1521 + Craniofrontonasal dysplasia-Poland anomaly syndrome + + + Preferential parent + + + + + + 1527 + Craniosynostosis, Philadelphia type + + + Preferential parent + + + + + + 1528 + Craniotelencephalic dysplasia + + + Preferential parent + + + + + + 1529 + Craniofacial-deafness-hand syndrome + + + Preferential parent + + + + + + 1532 + Gómez-López-Hernández syndrome + + + Preferential parent + + + + + + 1540 + Jackson-Weiss syndrome + + + Preferential parent + + + + + + 1547 + Cryptomicrotia-brachydactyly-excess fingertip arch syndrome + + + Preferential parent + + + + + + 1548 + Cryptorchidism-arachnodactyly-intellectual disability syndrome + + + Preferential parent + + + + + + 1553 + Curry-Jones syndrome + + + Preferential parent + + + + + + 1555 + Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome + + + Preferential parent + + + + + + 1563 + Dahlberg-Borer-Newcomer syndrome + + + Preferential parent + + + + + + 1566 + Dandy-Walker malformation-postaxial polydactyly syndrome + + + Preferential parent + + + + + + 1568 + X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome + + + Preferential parent + + + + + + 1571 + Knobloch syndrome + + + Preferential parent + + + + + + 3196 + Steroid dehydrogenase deficiency-dental anomalies syndrome + + + Preferential parent + + + + + + 1596 + Distal deletion 15q syndrome + + + Preferential parent + + + + + + 1606 + 1p36 deletion syndrome + + + Preferential parent + + + + + + 1647 + Oculocerebrocutaneous syndrome + + + Preferential parent + + + + + + 1657 + Dermatoosteolysis, Kirghizian type + + + Preferential parent + + + + + + 1660 + Dermoodontodysplasia + + + Preferential parent + + + + + + 1662 + Restrictive dermopathy + + + Preferential parent + + + + + + 1665 + Sporadic fetal brain disruption sequence + + + Preferential parent + + + + + + 1671 + Split cord malformation type I + + + Preferential parent + + + + + + 1756 + Caudal duplication + + + Preferential parent + + + + + + 1757 + Fibular dimelia-diplopodia syndrome + + + Preferential parent + + + + + + 1772 + 45,X/46,XY mixed gonadal dysgenesis + + + Preferential parent + + + + + + 1777 + Temtamy syndrome + + + Preferential parent + + + + + + 1780 + Thakker-Donnai syndrome + + + Preferential parent + + + + + + 1784 + Acrofrontofacionasal dysostosis + + + Preferential parent + + + + + + 1786 + Acrofacial dysostosis, Catania type + + + Preferential parent + + + + + + 1788 + Acrofacial dysostosis, Rodríguez type + + + Preferential parent + + + + + + 1790 + Hypomandibular faciocranial dysostosis + + + Preferential parent + + + + + + 1794 + Oculomaxillofacial dysostosis + + + Preferential parent + + + + + + 1806 + Ectodermal dysplasia-blindness syndrome + + + Preferential parent + + + + + + 1808 + Hidrotic ectodermal dysplasia, Christianson-Fourie type + + + Preferential parent + + + + + + 1809 + Hidrotic ectodermal dysplasia, Halal type + + + Preferential parent + + + + + + 1811 + Odontomicronychial dysplasia + + + Preferential parent + + + + + + 1812 + Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome + + + Preferential parent + + + + + + 1825 + Epiphyseal dysplasia-hearing loss-dysmorphism syndrome + + + Preferential parent + + + + + + 1834 + Axial mesodermal dysplasia spectrum + + + Preferential parent + + + + + + 1858 + Skeletal dysplasia-epilepsy-short stature syndrome + + + Preferential parent + + + + + + 1861 + Thoracic dysplasia-hydrocephalus syndrome + + + Preferential parent + + + + + + 1867 + Hereditary bullous dystrophy, macular type + + + Preferential parent + + + + + + 1873 + Jalili syndrome + + + Preferential parent + + + + + + 1882 + Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome + + + Preferential parent + + + + + + 1883 + Ectodermal dysplasia-sensorineural deafness syndrome + + + Preferential parent + + + + + + 1816 + Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome + + + Preferential parent + + + + + + 1818 + Ectodermal dysplasia, trichoodontoonychial type + + + Preferential parent + + + + + + 1891 + Intellectual disability-spasticity-ectrodactyly syndrome + + + Preferential parent + + + + + + 1892 + Ectrodactyly-polydactyly syndrome + + + Preferential parent + + + + + + 1895 + Edinburgh malformation syndrome + + + Preferential parent + + + + + + 1896 + EEC syndrome + + + Preferential parent + + + + + + 1897 + EEM syndrome + + + Preferential parent + + + + + + 1906 + Fetal valproate spectrum disorder + + + Preferential parent + + + + + + 1908 + Aminopterin/methotrexate embryofetopathy + + + Preferential parent + + + + + + 1909 + Indomethacin embryofetopathy + + + Preferential parent + + + + + + 1910 + Fetal iodine syndrome + + + Preferential parent + + + + + + 1911 + Cocaine embryofetopathy + + + Preferential parent + + + + + + 1918 + Fetal minoxidil syndrome + + + Preferential parent + + + + + + 1912 + Fetal hydantoin syndrome + + + Preferential parent + + + + + + 1913 + Fetal trimethadione syndrome + + + Preferential parent + + + + + + 1914 + Vitamin K antagonist embryofetopathy + + + Preferential parent + + + + + + 294 + Fetal cytomegalovirus syndrome + + + Preferential parent + + + + + + 1916 + Diethylstilbestrol syndrome + + + Preferential parent + + + + + + 1917 + Fetal methylmercury syndrome + + + Preferential parent + + + + + + 1919 + Phenobarbital embryopathy + + + Preferential parent + + + + + + 1920 + Toluene embryopathy + + + Preferential parent + + + + + + 1923 + Methimazole embryofetopathy + + + Preferential parent + + + + + + 1926 + Diabetic embryopathy + + + Preferential parent + + + + + + 2209 + Maternal phenylketonuria syndrome + + + Preferential parent + + + + + + 1927 + Emery-Nelson syndrome + + + Preferential parent + + + + + + 1937 + Eng-Strom syndrome + + + Preferential parent + + + + + + 1964 + Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome + + + Preferential parent + + + + + + 1968 + Flat face-microstomia-ear anomaly syndrome + + + Preferential parent + + + + + + 1969 + Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome + + + Preferential parent + + + + + + 1970 + Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome + + + Preferential parent + + + + + + 1972 + Lethal faciocardiomelic dysplasia + + + Preferential parent + + + + + + 1973 + Faciocardiorenal syndrome + + + Preferential parent + + + + + + 1974 + Autosomal recessive faciodigitogenital syndrome + + + Preferential parent + + + + + + 1986 + Gollop-Wolfgang complex + + + Preferential parent + + + + + + 1987 + Isolated femoral agenesis/hypoplasia + + + Preferential parent + + + + + + 1988 + Femoral-facial syndrome + + + Preferential parent + + + + + + 1993 + Pai syndrome + + + Preferential parent + + + + + + 1997 + Blepharo-cheilo-odontic syndrome + + + Preferential parent + + + + + + 2001 + Cleft lip/palate-intestinal malrotation-cardiopathy syndrome + + + Preferential parent + + + + + + 2003 + Cleft lip/palate-deafness-sacral lipoma syndrome + + + Preferential parent + + + + + + 2004 + Laryngotracheoesophageal cleft + + + Preferential parent + + + + + + 2006 + Median cleft lip/mandible + + + Preferential parent + + + + + + 2007 + Alar cartilages hypoplasia-coloboma-telecanthus syndrome + + + Preferential parent + + + + + + 2008 + Acrocardiofacial syndrome + + + Preferential parent + + + + + + 2010 + Cleft palate-stapes fixation-oligodontia syndrome + + + Preferential parent + + + + + + 2013 + Cleft palate-large ears-small head syndrome + + + Preferential parent + + + + + + 2016 + Cleft palate-lateral synechia syndrome + + + Preferential parent + + + + + + 2017 + Sternal cleft + + + Preferential parent + + + + + + 2019 + Femur-fibula-ulna complex + + + Preferential parent + + + + + + 2025 + Gingival fibromatosis-facial dysmorphism syndrome + + + Preferential parent + + + + + + 2026 + Gingival fibromatosis-hypertrichosis syndrome + + + Preferential parent + + + + + + 2027 + Gingival fibromatosis-progressive deafness syndrome + + + Preferential parent + + + + + + 2031 + Hepatic fibrosis-renal cysts-intellectual disability syndrome + + + Preferential parent + + + + + + 2036 + Scalp-ear-nipple syndrome + + + Preferential parent + + + + + + 2824 + Paraplegia-intellectual disability-hyperkeratosis syndrome + + + Preferential parent + + + + + + 2044 + Floating-Harbor syndrome + + + Preferential parent + + + + + + 2047 + Flynn-Aird syndrome + + + Preferential parent + + + + + + 1791 + Frontofacionasal dysplasia + + + Preferential parent + + + + + + 250 + Frontonasal dysplasia + + + Preferential parent + + + + + + 2057 + Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome + + + Preferential parent + + + + + + 2059 + Fryns syndrome + + + Preferential parent + + + + + + 2063 + Splenogonadal fusion-limb defects-micrognathia syndrome + + + Preferential parent + + + + + + 2064 + Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome + + + Preferential parent + + + + + + 2065 + Galloway-Mowat syndrome + + + Preferential parent + + + + + + 2067 + GAPO syndrome + + + Preferential parent + + + + + + 2074 + Gemignani syndrome + + + Preferential parent + + + + + + 2075 + Genitopalatocardiac syndrome + + + Preferential parent + + + + + + 2077 + German syndrome + + + Preferential parent + + + + + + 2083 + Prominent glabella-microcephaly-hypogenitalism syndrome + + + Preferential parent + + + + + + 2084 + Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome + + + Preferential parent + + + + + + 2090 + GMS syndrome + + + Preferential parent + + + + + + 2091 + Multinodular goiter-cystic kidney-polydactyly syndrome + + + Preferential parent + + + + + + 2092 + Focal dermal hypoplasia + + + Preferential parent + + + + + + 376 + Gordon syndrome + + + Preferential parent + + + + + + 380 + Greig cephalopolysyndactyly syndrome + + + Preferential parent + + + + + + 2101 + Grubben-de Cock-Borghgraef syndrome + + + Preferential parent + + + + + + 2104 + Dysmorphism-pectus carinatum-joint laxity syndrome + + + Preferential parent + + + + + + 2107 + Hall-Riggs syndrome + + + Preferential parent + + + + + + 2108 + Hallermann-Streiff syndrome + + + Preferential parent + + + + + + 2109 + Hallermann-Streiff-like syndrome + + + Preferential parent + + + + + + 2110 + Hallux varus-preaxial polysyndactyly syndrome + + + Preferential parent + + + + + + 2111 + Cystic hamartoma of lung and kidney + + + Preferential parent + + + + + + 2115 + Harrod syndrome + + + Preferential parent + + + + + + 2117 + Hartsfield syndrome + + + Preferential parent + + + + + + 2994 + Short stature-craniofacial anomalies-genital hypoplasia syndrome + + + Preferential parent + + + + + + 2123 + Multifocal infantile hemangioma with extracutenous involvement + + + Preferential parent + + + + + + 2128 + Isolated hemihyperplasia + + + Preferential parent + + + + + + 2130 + Non-syndromic hemimelia + + + Preferential parent + + + + + + 2136 + Hennekam syndrome + + + Preferential parent + + + + + + 2138 + 46,XX ovotesticular difference of sex development + + + Preferential parent + + + + + + 2139 + Hernández-Aguirre Negrete syndrome + + + Preferential parent + + + + + + 2141 + Diaphragmatic defect-limb deficiency-skull defect syndrome + + + Preferential parent + + + + + + 2143 + Donnai-Barrow syndrome + + + Preferential parent + + + + + + 2145 + Craniosynostosis, Herrmann-Opitz type + + + Preferential parent + + + + + + 2149 + Nodular neuronal heterotopia + + + Preferential parent + + + + + + 2148 + Lissencephaly type 1 due to doublecortin gene mutation + + + Preferential parent + + + + + + 2150 + Hirschsprung disease-type D brachydactyly syndrome + + + Preferential parent + + + + + + 2152 + Mowat-Wilson syndrome + + + Preferential parent + + + + + + 2153 + Hirschsprung disease-nail hypoplasia-dysmorphism syndrome + + + Preferential parent + + + + + + 2155 + Hirschsprung disease-deafness-polydactyly syndrome + + + Preferential parent + + + + + + 2163 + Holoprosencephaly-craniosynostosis syndrome + + + Preferential parent + + + + + + 2165 + Holoprosencephaly-caudal dysgenesis syndrome + + + Preferential parent + + + + + + 2166 + Holoprosencephaly-postaxial polydactyly syndrome + + + Preferential parent + + + + + + 2167 + Holzgreve syndrome + + + Preferential parent + + + + + + 2172 + Microcephaly-glomerulonephritis-marfanoid habitus syndrome + + + Preferential parent + + + + + + 2180 + Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome + + + Preferential parent + + + + + + 2181 + Hydrocephaly-tall stature-joint laxity syndrome + + + Preferential parent + + + + + + 2186 + Hydrocephalus-blue sclerae-nephropathy syndrome + + + Preferential parent + + + + + + 2189 + Hydrolethalus + + + Preferential parent + + + + + + 2202 + Palmoplantar keratoderma-deafness syndrome + + + Preferential parent + + + + + + 2206 + Ankylosing vertebral hyperostosis with tylosis + + + Preferential parent + + + + + + 2211 + Hypertelorism-hypospadias-polysyndactyly syndrome + + + Preferential parent + + + + + + 2213 + Hypertelorism-microtia-facial clefting syndrome + + + Preferential parent + + + + + + 2215 + Multiple pterygium-malignant hyperthermia syndrome + + + Preferential parent + + + + + + 2216 + Maternal hyperthermia-induced birth defects + + + Preferential parent + + + + + + 2218 + Cervical hypertrichosis-peripheral neuropathy syndrome + + + Preferential parent + + + + + + 2220 + Hypertrichosis cubiti + + + Preferential parent + + + + + + 2228 + Hypodontia-dysplasia of nails syndrome + + + Preferential parent + + + + + + 1051 + Ramos-Arroyo syndrome + + + Preferential parent + + + + + + 2229 + Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome + + + Preferential parent + + + + + + 2234 + Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome + + + Preferential parent + + + + + + 2241 + Megacystis-microcolon-intestinal hypoperistalsis syndrome + + + Preferential parent + + + + + + 2249 + Ulna hypoplasia-intellectual disability syndrome + + + Preferential parent + + + + + + 2250 + Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome + + + Preferential parent + + + + + + 2251 + Thumb deformity-alopecia-pigmentation anomaly syndrome + + + Preferential parent + + + + + + 2252 + Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome + + + Preferential parent + + + + + + 2256 + Fibulo-ulnar hypoplasia-renal anomalies syndrome + + + Preferential parent + + + + + + 2257 + Primary pulmonary hypoplasia + + + Preferential parent + + + + + + 2261 + Hypospadias-intellectual disability, Goldblatt type syndrome + + + Preferential parent + + + + + + 672 + Pallister-Hall syndrome + + + Preferential parent + + + + + + 2266 + Hypotrichosis-intellectual disability, Lopes type + + + Preferential parent + + + + + + 2269 + Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome + + + Preferential parent + + + + + + 139 + CHILD syndrome + + + Preferential parent + + + + + + 2272 + Ichthyosis-oral and digital anomalies syndrome + + + Preferential parent + + + + + + 2278 + Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome + + + Preferential parent + + + + + + 2282 + Dysmorphism-short stature-deafness-difference of sex development syndrome + + + Preferential parent + + + + + + 2305 + Isotretinoin syndrome + + + Preferential parent + + + + + + 2306 + Isotretinoin-like syndrome + + + Preferential parent + + + + + + 2307 + IVIC syndrome + + + Preferential parent + + + + + + 2310 + Absence deformity of leg-cataract syndrome + + + Preferential parent + + + + + + 2315 + Johanson-Blizzard syndrome + + + Preferential parent + + + + + + 2316 + Johnson neuroectodermal syndrome + + + Preferential parent + + + + + + 2319 + Juberg-Hayward syndrome + + + Preferential parent + + + + + + 2321 + Jung syndrome + + + Preferential parent + + + + + + 2322 + Kabuki syndrome + + + Preferential parent + + + + + + 2323 + Sanjad-Sakati syndrome + + + Preferential parent + + + + + + 2328 + Kapur-Toriello syndrome + + + Preferential parent + + + + + + 2329 + Karsch-Neugebauer syndrome + + + Preferential parent + + + + + + 2332 + KBG syndrome + + + Preferential parent + + + + + + 2339 + Keratosis follicularis-dwarfism-cerebral atrophy syndrome + + + Preferential parent + + + + + + 2342 + Haim-Munk syndrome + + + Preferential parent + + + + + + 2351 + Kousseff syndrome + + + Preferential parent + + + + + + 2353 + Schilbach-Rott syndrome + + + Preferential parent + + + + + + 2363 + Lacrimoauriculodentodigital syndrome + + + Preferential parent + + + + + + 2369 + Limb body wall complex + + + Preferential parent + + + + + + 2375 + Laryngeal abductor paralysis-intellectual disability syndrome + + + Preferential parent + + + + + + 2378 + Laurin-Sandrow syndrome + + + Preferential parent + + + + + + 2379 + Early-onset parkinsonism-intellectual disability syndrome + + + Preferential parent + + + + + + 2391 + Congenitally short costocoracoid ligament + + + Preferential parent + + + + + + 2399 + Nasopalpebral lipoma-coloboma syndrome + + + Preferential parent + + + + + + 2408 + Lowe-Kohn-Cohen syndrome + + + Preferential parent + + + + + + 2409 + Lowry-MacLean syndrome + + + Preferential parent + + + + + + 2410 + Hypergonadotropic hypogonadism-cataract syndrome + + + Preferential parent + + + + + + 2412 + Dislocation of the hip-dysmorphism syndrome + + + Preferential parent + + + + + + 2429 + Macrocephaly-spastic paraplegia-dysmorphism syndrome + + + Preferential parent + + + + + + 2432 + Macrosomia-microphthalmia-cleft palate syndrome + + + Preferential parent + + + + + + 2437 + Czeizel-Losonci syndrome + + + Preferential parent + + + + + + 2438 + Hand-foot-genital syndrome + + + Preferential parent + + + + + + 2439 + Patterson-Stevenson-Fontaine syndrome + + + Preferential parent + + + + + + 2440 + Isolated split hand-split foot malformation + + + Preferential parent + + + + + + 2451 + Mucocutaneous venous malformations + + + Preferential parent + + + + + + 2461 + Marden-Walker syndrome + + + Preferential parent + + + + + + 2462 + Shprintzen-Goldberg syndrome + + + Preferential parent + + + + + + 2463 + Marfanoid habitus-autosomal recessive intellectual disability syndrome + + + Preferential parent + + + + + + 2464 + Marfanoid syndrome, De Silva type + + + Preferential parent + + + + + + 561 + Marshall-Smith syndrome + + + Preferential parent + + + + + + 2470 + Matthew-Wood syndrome + + + Preferential parent + + + + + + 2471 + McDonough syndrome + + + Preferential parent + + + + + + 2473 + McKusick-Kaufman syndrome + + + Preferential parent + + + + + + 2475 + White forelock with malformations + + + Preferential parent + + + + + + 2476 + Dysraphism-cleft lip/palate-limb reduction defects syndrome + + + Preferential parent + + + + + + 2477 + Isolated megalencephaly + + + Preferential parent + + + + + + 2479 + Megalocornea-intellectual disability syndrome + + + Preferential parent + + + + + + 2482 + Melhem-Fahl syndrome + + + Preferential parent + + + + + + 2487 + Lower limb malformation-hypospadias syndrome + + + Preferential parent + + + + + + 2489 + Upper limb defect-eye and ear abnormalities syndrome + + + Preferential parent + + + + + + 2491 + Müllerian duct anomalies-limb anomalies syndrome + + + Preferential parent + + + + + + 2492 + FATCO syndrome + + + Preferential parent + + + + + + 2498 + Syndactyly type 8 + + + Preferential parent + + + + + + 2508 + Corpus callosum agenesis-abnormal genitalia syndrome + + + Preferential parent + + + + + + 2510 + Micro syndrome + + + Preferential parent + + + + + + 2511 + Microbrachycephaly-ptosis-cleft lip syndrome + + + Preferential parent + + + + + + 2513 + Microcephaly-albinism-digital anomalies syndrome + + + Preferential parent + + + + + + 2514 + Autosomal dominant primary microcephaly + + + Preferential parent + + + + + + 2515 + Microcephaly-cardiomyopathy syndrome + + + Preferential parent + + + + + + 2516 + Microcephaly-cardiac defect-lung malsegmentation syndrome + + + Preferential parent + + + + + + 2521 + Microcephaly-cleft palate-abnormal retinal pigmentation syndrome + + + Preferential parent + + + + + + 2522 + Microcephaly-cervical spine fusion anomalies syndrome + + + Preferential parent + + + + + + 2523 + Microcephaly-brain defect-spasticity-hypernatremia syndrome + + + Preferential parent + + + + + + 2524 + Pontocerebellar hypoplasia type 2 + + + Preferential parent + + + + + + 2526 + Microcephaly-lymphedema-chorioretinopathy syndrome + + + Preferential parent + + + + + + 2528 + Microcephaly-microcornea syndrome, Seemanova type + + + Preferential parent + + + + + + 2533 + Microcephaly-deafness-intellectual disability syndrome + + + Preferential parent + + + + + + 2536 + Microcornea-glaucoma-absent frontal sinuses syndrome + + + Preferential parent + + + + + + 2549 + Oculoauriculovertebral spectrum with radial defects + + + Preferential parent + + + + + + 2551 + Microspherophakia-metaphyseal dysplasia syndrome + + + Preferential parent + + + + + + 2554 + Ear-patella-short stature syndrome + + + Preferential parent + + + + + + 2556 + Microphthalmia with linear skin defects syndrome + + + Preferential parent + + + + + + 2557 + Mietens syndrome + + + Preferential parent + + + + + + 2558 + Mikati-Najjar-Sahli syndrome + + + Preferential parent + + + + + + 2561 + Pyramidal molars-abnormal upper lip syndrome + + + Preferential parent + + + + + + 2563 + MOMO syndrome + + + Preferential parent + + + + + + 2564 + Tetramelic monodactyly + + + Preferential parent + + + + + + 2565 + Mononen-Karnes-Senac syndrome + + + Preferential parent + + + + + + 2570 + Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome + + + Preferential parent + + + + + + 2576 + Mulibrey nanism + + + Preferential parent + + + + + + 2578 + Mayer-Rokitansky-Küster-Hauser syndrome type 2 + + + Preferential parent + + + + + + 2588 + Myhre syndrome + + + Preferential parent + + + + + + 2589 + Myoclonus-cerebellar ataxia-deafness syndrome + + + Preferential parent + + + + + + 2608 + N syndrome + + + Preferential parent + + + + + + 2617 + Microcephalic primordial dwarfism, Montreal type + + + Preferential parent + + + + + + 2631 + Mesomelic dwarfism-cleft palate-camptodactyly syndrome + + + Preferential parent + + + + + + 2639 + Fibular aplasia-complex brachydactyly syndrome + + + Preferential parent + + + + + + 2662 + Keipert syndrome + + + Preferential parent + + + + + + 2663 + Nathalie syndrome + + + Preferential parent + + + + + + 2669 + Nephrosis-deafness-urinary tract-digital malformations syndrome + + + Preferential parent + + + + + + 1475 + Renal coloboma syndrome + + + Preferential parent + + + + + + 2671 + Neu-Laxova syndrome + + + Preferential parent + + + + + + 2673 + Neurofaciodigitorenal syndrome + + + Preferential parent + + + + + + 2674 + Cyprus facial-neuromusculoskeletal syndrome + + + Preferential parent + + + + + + 2695 + Bifid nose + + + Preferential parent + + + + + + 2697 + Arthrogryposis-renal dysfunction-cholestasis syndrome + + + Preferential parent + + + + + + 2699 + Median nodule of the upper lip + + + Preferential parent + + + + + + 2701 + Noonan syndrome-like disorder with loose anagen hair + + + Preferential parent + + + + + + 2703 + Port-wine nevi-mega cisterna magna-hydrocephalus syndrome + + + Preferential parent + + + + + + 2704 + Urofacial syndrome + + + Preferential parent + + + + + + 2707 + Oculocerebrofacial syndrome, Kaufman type + + + Preferential parent + + + + + + 2709 + Oculodental syndrome, Rutherfurd type + + + Preferential parent + + + + + + 2710 + Oculodentodigital dysplasia + + + Preferential parent + + + + + + 2712 + Oculofaciocardiodental syndrome + + + Preferential parent + + + + + + 2713 + Oculoosteocutaneous syndrome + + + Preferential parent + + + + + + 2714 + Oculo-palato-cerebral syndrome + + + Preferential parent + + + + + + 2715 + Severe oculo-renal-cerebellar syndrome + + + Preferential parent + + + + + + 2717 + Oculotrichoanal syndrome + + + Preferential parent + + + + + + 2718 + Oculotrichodysplasia + + + Preferential parent + + + + + + 2719 + Oculocerebral hypopigmentation syndrome, Cross type + + + Preferential parent + + + + + + 2720 + Oculocerebral hypopigmentation syndrome, Preus type + + + Preferential parent + + + + + + 2721 + Odonto-onycho-dermal dysplasia + + + Preferential parent + + + + + + 2722 + Odonto-onycho dysplasia-alopecia syndrome + + + Preferential parent + + + + + + 2723 + Odontotrichomelic syndrome + + + Preferential parent + + + + + + 2724 + Odontomatosis-aortae esophagus stenosis syndrome + + + Preferential parent + + + + + + 2728 + Blepharophimosis-intellectual disability syndrome, Ohdo type + + + Preferential parent + + + + + + 2730 + Postaxial tetramelic oligodactyly + + + Preferential parent + + + + + + 2732 + Olivopontocerebellar atrophy-deafness syndrome + + + Preferential parent + + + + + + 2736 + Lethal omphalocele-cleft palate syndrome + + + Preferential parent + + + + + + 2741 + Ophthalmomandibulomelic dysplasia + + + Preferential parent + + + + + + 2743 + Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome + + + Preferential parent + + + + + + 2750 + Orofaciodigital syndrome type 1 + + + Preferential parent + + + + + + 2751 + Orofaciodigital syndrome type 2 + + + Preferential parent + + + + + + 2753 + Orofaciodigital syndrome type 4 + + + Preferential parent + + + + + + 2754 + Orofaciodigital syndrome type 6 + + + Preferential parent + + + + + + 2755 + Orofaciodigital syndrome type 8 + + + Preferential parent + + + + + + 2759 + Imperforate oropharynx-costovertebral anomalies syndrome + + + Preferential parent + + + + + + 2760 + OSLAM syndrome + + + Preferential parent + + + + + + 2769 + Familial osteodysplasia, Anderson type + + + Preferential parent + + + + + + 2791 + Otodental syndrome + + + Preferential parent + + + + + + 2792 + Otofaciocervical syndrome + + + Preferential parent + + + + + + 2793 + Otoonychoperoneal syndrome + + + Preferential parent + + + + + + 2804 + W syndrome + + + Preferential parent + + + + + + 2805 + Partial pancreatic agenesis + + + Preferential parent + + + + + + 675 + Annular pancreas + + + Preferential parent + + + + + + 2825 + PARC syndrome + + + Preferential parent + + + + + + 2832 + Short tarsus-absence of lower eyelashes syndrome + + + Preferential parent + + + + + + 2835 + Pectus excavatum-macrocephaly-dysplastic nails syndrome + + + Preferential parent + + + + + + 2838 + Renal caliceal diverticuli-deafness syndrome + + + Preferential parent + + + + + + 2839 + Pelvis-shoulder dysplasia + + + Preferential parent + + + + + + 2840 + Pelvic dysplasia-arthrogryposis of lower limbs syndrome + + + Preferential parent + + + + + + 2842 + Penoscrotal transposition + + + Preferential parent + + + + + + 2846 + Congenital pericardium anomaly + + + Preferential parent + + + + + + 2847 + Pericardial and diaphragmatic defect + + + Preferential parent + + + + + + 2850 + Alopecia-intellectual disability syndrome + + + Preferential parent + + + + + + 2854 + Fuhrmann syndrome + + + Preferential parent + + + + + + 2855 + Perrault syndrome + + + Preferential parent + + + + + + 708 + Peters anomaly + + + Preferential parent + + + + + + 2863 + Short stature-wormian bones-dextrocardia syndrome + + + Preferential parent + + + + + + 2865 + Short stature-webbed neck-heart disease syndrome + + + Preferential parent + + + + + + 2866 + Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome + + + Preferential parent + + + + + + 2868 + Short stature-valvular heart disease-characteristic facies syndrome + + + Preferential parent + + + + + + 2871 + Pfeiffer-Palm-Teller syndrome + + + Preferential parent + + + + + + 2872 + Cardiocranial syndrome, Pfeiffer type + + + Preferential parent + + + + + + 2874 + Phakomatosis pigmentokeratotica + + + Preferential parent + + + + + + 2875 + Phakomatosis pigmentovascularis + + + Preferential parent + + + + + + 2876 + PHAVER syndrome + + + Preferential parent + + + + + + 2879 + Phocomelia, Schinzel type + + + Preferential parent + + + + + + 2886 + TARP syndrome + + + Preferential parent + + + + + + 2888 + Pierre Robin syndrome-faciodigital anomaly syndrome + + + Preferential parent + + + + + + 2890 + Pili torti-onychodysplasia syndrome + + + Preferential parent + + + + + + 2892 + Pilodental dysplasia-refractive errors syndrome + + + Preferential parent + + + + + + 2896 + Pitt-Hopkins syndrome + + + Preferential parent + + + + + + 2900 + Leri pleonosteosis + + + Preferential parent + + + + + + 2911 + Poland syndrome + + + Preferential parent + + + + + + 2916 + Postaxial polydactyly-dental and vertebral anomalies syndrome + + + Preferential parent + + + + + + 2917 + Polydactyly-myopia syndrome + + + Preferential parent + + + + + + 2919 + Orofaciodigital syndrome type 5 + + + Preferential parent + + + + + + 2920 + Oliver syndrome + + + Preferential parent + + + + + + 2921 + Preaxial polydactyly-colobomata-intellectual disability syndrome + + + Preferential parent + + + + + + 2930 + Cronkhite-Canada syndrome + + + Preferential parent + + + + + + 2934 + Polysyndactyly-cardiac malformation syndrome + + + Preferential parent + + + + + + 2935 + Crossed polysyndactyly + + + Preferential parent + + + + + + 2940 + Porencephaly + + + Preferential parent + + + + + + 2941 + Porencephaly-cerebellar hypoplasia-internal malformations syndrome + + + Preferential parent + + + + + + 1848 + Renal agenesis, bilateral + + + Preferential parent + + + + + + 2946 + Brachydactyly-long thumb syndrome + + + Preferential parent + + + + + + 2947 + Triphalangeal thumbs-brachyectrodactyly syndrome + + + Preferential parent + + + + + + 2951 + Absent thumb-short stature-immunodeficiency syndrome + + + Preferential parent + + + + + + 2952 + Adducted thumbs-arthrogryposis syndrome, Christian type + + + Preferential parent + + + + + + 2956 + Acrodysplasia scoliosis + + + Preferential parent + + + + + + 2957 + Guttmacher syndrome + + + Preferential parent + + + + + + 2958 + X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome + + + Preferential parent + + + + + + 740 + Hutchinson-Gilford progeria syndrome + + + Preferential parent + + + + + + 2959 + Progeria-short stature-pigmented nevi syndrome + + + Preferential parent + + + + + + 2964 + Autosomal dominant prognathism + + + Preferential parent + + + + + + 2972 + Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome + + + Preferential parent + + + + + + 2973 + 46,XX difference of sex development-anorectal anomalies syndrome + + + Preferential parent + + + + + + 2975 + 46,XX difference of sex development-skeletal anomalies syndrome + + + Preferential parent + + + + + + 2980 + Acrootoocular syndrome + + + Preferential parent + + + + + + 2985 + Pseudoprogeria syndrome + + + Preferential parent + + + + + + 2988 + Pterygium colli-intellectual disability-digital anomalies syndrome + + + Preferential parent + + + + + + 2990 + Autosomal recessive multiple pterygium syndrome + + + Preferential parent + + + + + + 3004 + Mirror polydactyly-vertebral segmentation-limbs defects syndrome + + + Preferential parent + + + + + + 3011 + Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome + + + Preferential parent + + + + + + 3015 + Radio-renal syndrome + + + Preferential parent + + + + + + 3016 + Absent radius-anogenital anomalies syndrome + + + Preferential parent + + + + + + 3021 + RAPADILINO syndrome + + + Preferential parent + + + + + + 3023 + External auditory canal atresia-vertical talus-hypertelorism syndrome + + + Preferential parent + + + + + + 3026 + Radial ray hypoplasia-choanal atresia syndrome + + + Preferential parent + + + + + + 3033 + Renal tubular dysgenesis + + + Preferential parent + + + + + + 3035 + Growth delay-hydrocephaly-lung hypoplasia syndrome + + + Preferential parent + + + + + + 3038 + Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome + + + Preferential parent + + + + + + 3041 + Intellectual disability-balding-patella luxation-acromicria syndrome + + + Preferential parent + + + + + + 3044 + Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome + + + Preferential parent + + + + + + 3047 + Blepharophimosis-intellectual disability syndrome, SBBYS type + + + Preferential parent + + + + + + 3052 + X-linked intellectual disability-seizures-psoriasis syndrome + + + Preferential parent + + + + + + 3055 + X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome + + + Preferential parent + + + + + + 3063 + X-linked intellectual disability, Snyder type + + + Preferential parent + + + + + + 3068 + Intellectual disability-myopathy-short stature-endocrine defect syndrome + + + Preferential parent + + + + + + 3077 + X-linked intellectual disability-psychosis-macroorchidism syndrome + + + Preferential parent + + + + + + 3078 + Severe X-linked intellectual disability, Gustavson type + + + Preferential parent + + + + + + 3079 + Intellectual disability, Buenos-Aires type + + + Preferential parent + + + + + + 3080 + Intellectual disability, Wolff type + + + Preferential parent + + + + + + 3090 + Congenital pulmonary venous return anomaly + + + Preferential parent + + + + + + 3097 + Meacham syndrome + + + Preferential parent + + + + + + 3102 + Richieri Costa-Pereira syndrome + + + Preferential parent + + + + + + 3104 + Robin sequence-oligodactyly syndrome + + + Preferential parent + + + + + + 3107 + Autosomal dominant Robinow syndrome + + + Preferential parent + + + + + + 3109 + Mayer-Rokitansky-Küster-Hauser syndrome + + + Preferential parent + + + + + + 2909 + Rothmund-Thomson syndrome + + + Preferential parent + + + + + + 3121 + Ruvalcaba syndrome + + + Preferential parent + + + + + + 3132 + Say-Barber-Miller syndrome + + + Preferential parent + + + + + + 3134 + SCARF syndrome + + + Preferential parent + + + + + + 798 + Schinzel-Giedion syndrome + + + Preferential parent + + + + + + 3138 + Ulnar-mammary syndrome + + + Preferential parent + + + + + + 647 + Nijmegen breakage syndrome + + + Preferential parent + + + + + + 3157 + Septo-optic dysplasia spectrum + + + Preferential parent + + + + + + 1479 + Atrial septal defect-atrioventricular conduction defects syndrome + + + Preferential parent + + + + + + 3163 + SHORT syndrome + + + Preferential parent + + + + + + 3164 + Omphalocele syndrome, Shprintzen-Goldberg type + + + Preferential parent + + + + + + 3168 + Sillence syndrome + + + Preferential parent + + + + + + 3172 + Eyebrow duplication-syndactyly syndrome + + + Preferential parent + + + + + + 1797 + Autosomal dominant spondylocostal dysostosis + + + Preferential parent + + + + + + 3181 + Sprengel deformity + + + Preferential parent + + + + + + 3184 + Steatocystoma multiplex-natal teeth syndrome + + + Preferential parent + + + + + + 3186 + Holoprosencephaly-radial heart renal anomalies syndrome + + + Preferential parent + + + + + + 3191 + Subaortic stenosis-short stature syndrome + + + Preferential parent + + + + + + 3193 + Supravalvular aortic stenosis + + + Preferential parent + + + + + + 3194 + Corneodermatoosseous syndrome + + + Preferential parent + + + + + + 3199 + Stimmler syndrome + + + Preferential parent + + + + + + 3201 + Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome + + + Preferential parent + + + + + + 3214 + Deaf blind hypopigmentation syndrome, Yemenite type + + + Preferential parent + + + + + + 3216 + Conductive deafness-malformed external ear syndrome + + + Preferential parent + + + + + + 3218 + Deafness-epiphyseal dysplasia-short stature syndrome + + + Preferential parent + + + + + + 3219 + Fountain syndrome + + + Preferential parent + + + + + + 3220 + Deafness-enamel hypoplasia-nail defects syndrome + + + Preferential parent + + + + + + 3224 + Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome + + + Preferential parent + + + + + + 3230 + Deafness-oligodontia syndrome + + + Preferential parent + + + + + + 3231 + Deafness-onychodystrophy syndrome + + + Preferential parent + + + + + + 3232 + Deafness-ear malformation-facial palsy syndrome + + + Preferential parent + + + + + + 3233 + Cochleosaccular degeneration-cataract syndrome + + + Preferential parent + + + + + + 3235 + Progressive deafness with stapes fixation + + + Preferential parent + + + + + + 3236 + Conductive deafness-ptosis-skeletal anomalies syndrome + + + Preferential parent + + + + + + 3237 + Multiple synostoses syndrome + + + Preferential parent + + + + + + 3238 + Cardiospondylocarpofacial syndrome + + + Preferential parent + + + + + + 3241 + Deafness-craniofacial syndrome + + + Preferential parent + + + + + + 3242 + Renpenning syndrome + + + Preferential parent + + + + + + 3246 + Symphalangism with multiple anomalies of hands and feet + + + Preferential parent + + + + + + 3248 + Isolated distal symphalangism + + + Preferential parent + + + + + + 3250 + Proximal symphalangism + + + Preferential parent + + + + + + 3253 + Cleft lip/palate-ectodermal dysplasia syndrome + + + Preferential parent + + + + + + 3255 + Filippi syndrome + + + Preferential parent + + + + + + 3258 + Cenani-Lenz syndrome + + + Preferential parent + + + + + + 3262 + Dobrow syndrome + + + Preferential parent + + + + + + 3265 + Isolated humero-radial synostosis + + + Preferential parent + + + + + + 3266 + Isolated humero-radio-ulnar synostosis + + + Preferential parent + + + + + + 3268 + Radioulnar synostosis-microcephaly-scoliosis syndrome + + + Preferential parent + + + + + + 3270 + Radioulnar synostosis-developmental delay-hypotonia syndrome + + + Preferential parent + + + + + + 3291 + Teebi-Shaltout syndrome + + + Preferential parent + + + + + + 3292 + Tel Hashomer camptodactyly syndrome + + + Preferential parent + + + + + + 3293 + Telecanthus-hypertelorism-strabismus-pes cavus syndrome + + + Preferential parent + + + + + + 3294 + Extensor tendons of finger anomalies + + + Preferential parent + + + + + + 3301 + Tetraamelia-multiple malformations syndrome + + + Preferential parent + + + + + + 3304 + Fallot complex-intellectual disability-growth delay syndrome + + + Preferential parent + + + + + + 3312 + Thalidomide embryopathy + + + Preferential parent + + + + + + 3316 + Thomas syndrome + + + Preferential parent + + + + + + 3322 + Hoyeraal-Hreidarsson syndrome + + + Preferential parent + + + + + + 3326 + Thymic-renal-anal-lung dysplasia + + + Preferential parent + + + + + + 3328 + Absent tibia-polydactyly-arachnoid cyst syndrome + + + Preferential parent + + + + + + 3329 + Tibial aplasia-ectrodactyly syndrome + + + Preferential parent + + + + + + 3338 + Toriello-Carey syndrome + + + Preferential parent + + + + + + 3339 + Oculoectodermal syndrome + + + Preferential parent + + + + + + 3341 + Torticollis-keloids-cryptorchidism-renal dysplasia syndrome + + + Preferential parent + + + + + + 3351 + Trichodental syndrome + + + Preferential parent + + + + + + 3352 + Tricho-dento-osseous syndrome + + + Preferential parent + + + + + + 3353 + Trichodermodysplasia-dental alterations syndrome + + + Preferential parent + + + + + + 3355 + Trichoodontoonychial dysplasia + + + Preferential parent + + + + + + 3363 + Trichomegaly-retina pigmentary degeneration-dwarfism syndrome + + + Preferential parent + + + + + + 3365 + Trigonocephaly-broad thumbs syndrome + + + Preferential parent + + + + + + 3366 + Non-syndromic metopic craniosynostosis + + + Preferential parent + + + + + + 3368 + Trigonocephaly-bifid nose-acral anomalies syndrome + + + Preferential parent + + + + + + 3369 + Trigonocephaly-short stature-developmental delay syndrome + + + Preferential parent + + + + + + 3377 + Trismus-pseudocamptodactyly syndrome + + + Preferential parent + + + + + + 1717 + Distal duplication 19q syndrome + + + Preferential parent + + + + + + 1723 + Mosaic trisomy 2 syndrome + + + Preferential parent + + + + + + 1724 + Mosaic trisomy 20 syndrome + + + Preferential parent + + + + + + 1747 + Mosaic trisomy 7 syndrome + + + Preferential parent + + + + + + 3383 + Humerus trochlea aplasia + + + Preferential parent + + + + + + 3384 + Common arterial trunk + + + Preferential parent + + + + + + 3388 + Neural tube defect + + + Preferential parent + + + + + + 3404 + Ulbright-Hodes syndrome + + + Preferential parent + + + + + + 3409 + Urban-Rogers-Meyer syndrome + + + Preferential parent + + + + + + 3412 + VACTERL with hydrocephalus + + + Preferential parent + + + + + + 2460 + Van den Ende-Gupta syndrome + + + Preferential parent + + + + + + 3424 + Velo-facial-skeletal syndrome + + + Preferential parent + + + + + + 3429 + Verloove Vanhorick-Brubakk syndrome + + + Preferential parent + + + + + + 3433 + Microcephaly-brachydactyly-kyphoscoliosis syndrome + + + Preferential parent + + + + + + 3434 + MMEP syndrome + + + Preferential parent + + + + + + 3448 + Weaver-Williams syndrome + + + Preferential parent + + + + + + 3449 + Weill-Marchesani syndrome + + + Preferential parent + + + + + + 3454 + Wieacker-Wolff syndrome + + + Preferential parent + + + + + + 3455 + Wiedemann-Rautenstrauch syndrome + + + Preferential parent + + + + + + 3456 + Wildervanck syndrome + + + Preferential parent + + + + + + 3459 + Wilson-Turner syndrome + + + Preferential parent + + + + + + 3466 + WT limb-blood syndrome + + + Preferential parent + + + + + + 3469 + XK aprosencephaly syndrome + + + Preferential parent + + + + + + 3473 + Zimmermann-Laband syndrome + + + Preferential parent + + + + + + 1827 + Acromelic frontonasal dysplasia + + + Preferential parent + + + + + + 2749 + Oromandibular-limb hypogenesis syndrome + + + Preferential parent + + + + + + 2995 + Baraitser-Winter cerebrofrontofacial syndrome + + + Preferential parent + + + + + + 3200 + Arthrogryposis-ectodermal dysplasia syndrome + + + Preferential parent + + + + + + 1570 + Symbrachydactyly of hands and feet + + + Preferential parent + + + + + + 1759 + Thoraco-abdominal enteric duplication + + + Preferential parent + + + + + + 1277 + Brachydactyly-mesomelia-intellectual disability-heart defects syndrome + + + Preferential parent + + + + + + 2547 + Microphthalmia-microtia-fetal akinesia syndrome + + + Preferential parent + + + + + + 1778 + Facial dysmorphism-shawl scrotum-joint laxity syndrome + + + Preferential parent + + + + + + 3074 + Intellectual disability-short stature-hypertelorism syndrome + + + Preferential parent + + + + + + 1415 + Hardikar syndrome + + + Preferential parent + + + + + + 2151 + Hirschsprung disease-ganglioneuroblastoma syndrome + + + Preferential parent + + + + + + 2519 + Microcephaly-seizures-intellectual disability-heart disease syndrome + + + Preferential parent + + + + + + 3405 + Umbilical cord ulceration-intestinal atresia syndrome + + + Preferential parent + + + + + + 2254 + Pontocerebellar hypoplasia type 1 + + + Preferential parent + + + + + + 2183 + Hydrocephalus-obesity-hypogonadism syndrome + + + Preferential parent + + + + + + 2898 + X-linked intellectual disability-plagiocephaly syndrome + + + Preferential parent + + + + + + 2062 + Progressive non-infectious anterior vertebral fusion + + + Preferential parent + + + + + + 2015 + Cleft palate-short stature-vertebral anomalies syndrome + + + Preferential parent + + + + + + 2427 + Macrocephaly-short stature-paraplegia syndrome + + + Preferential parent + + + + + + 2058 + Fryns-Smeets-Thiry syndrome + + + Preferential parent + + + + + + 2538 + Microgastria-limb reduction defect syndrome + + + Preferential parent + + + + + + 3207 + White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome + + + Preferential parent + + + + + + 1130 + Arachnodactyly-intellectual disability-dysmorphism syndrome + + + Preferential parent + + + + + + 2326 + Kallmann syndrome-heart disease syndrome + + + Preferential parent + + + + + + 1541 + Craniosynostosis, Boston type + + + Preferential parent + + + + + + 1768 + Familial caudal dysgenesis + + + Preferential parent + + + + + + 1134 + Isolated arrhinia + + + Preferential parent + + + + + + 1485 + Arthrogryposis-hyperkeratosis syndrome, lethal form + + + Preferential parent + + + + + + 3051 + Nicolaides-Baraitser syndrome + + + Preferential parent + + + + + + 1272 + Aymé-Gripp syndrome + + + Preferential parent + + + + + + 1779 + Dysmorphism-cleft palate-loose skin syndrome + + + Preferential parent + + + + + + 2184 + Hydrocephaly-low insertion umbilicus syndrome + + + Preferential parent + + + + + + 1101 + Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome + + + Preferential parent + + + + + + 3439 + Von Voss-Cherstvoy syndrome + + + Preferential parent + + + + + + 1681 + Diprosopus + + + Preferential parent + + + + + + 1655 + Müllerian derivatives-lymphangiectasia-polydactyly syndrome + + + Preferential parent + + + + + + 1129 + Arachnodactyly-abnormal ossification-intellectual disability syndrome + + + Preferential parent + + + + + + 1383 + Cataract-deafness-hypogonadism syndrome + + + Preferential parent + + + + + + 1524 + Craniomicromelic syndrome + + + Preferential parent + + + + + + 1123 + Caudal appendage-deafness syndrome + + + Preferential parent + + + + + + 3263 + Syngnathia-cleft palate syndrome + + + Preferential parent + + + + + + 110 + Bardet-Biedl syndrome + + + Preferential parent + + + + + + 566 + Congenital microcoria + + + Preferential parent + + + + + + 2745 + Opitz GBBB syndrome + + + Preferential parent + + + + + + 982 + Pulmonary valve agenesis + + + Preferential parent + + + + + + 980 + Absence of the pulmonary artery + + + Preferential parent + + + + + + 1054 + Aneurysm of sinus of Valsalva + + + Preferential parent + + + + + + 1081 + Coronary artery congenital malformation + + + Preferential parent + + + + + + 1132 + Aortic arch defects + + + Preferential parent + + + + + + 1138 + Abnormal origin of the pulmonary artery + + + Preferential parent + + + + + + 1207 + Pulmonary atresia with ventricular septal defect + + + Preferential parent + + + + + + 1456 + Middle aortic syndrome + + + Preferential parent + + + + + + 1457 + Coarctation of aorta + + + Preferential parent + + + + + + 1463 + Triatrial heart + + + Preferential parent + + + + + + 1686 + Cardiac diverticulum + + + Preferential parent + + + + + + 2037 + Congenital aortopulmonary window + + + Preferential parent + + + + + + 2038 + Pulmonary arteriovenous malformation + + + Preferential parent + + + + + + 2041 + Coronary arterial fistula + + + Preferential parent + + + + + + 439 + Isolated right ventricular hypoplasia + + + Preferential parent + + + + + + 2447 + Congenital mitral malformation + + + Preferential parent + + + + + + 2299 + Aortic arch interruption + + + Preferential parent + + + + + + 3426 + Double outlet right ventricle + + + Preferential parent + + + + + + 3427 + Double outlet left ventricle + + + Preferential parent + + + + + + 3091 + Congenital systemic veins anomaly + + + Preferential parent + + + + + + 3092 + Fixed subaortic stenosis + + + Preferential parent + + + + + + 3093 + Congenital aortic valve stenosis + + + Preferential parent + + + + + + 3161 + Congenital pulmonary sequestration + + + Preferential parent + + + + + + 3188 + Congenital pulmonary veins atresia or stenosis + + + Preferential parent + + + + + + 3189 + Congenital pulmonary valvar stenosis + + + Preferential parent + + + + + + 3190 + Subpulmonary stenosis + + + Preferential parent + + + + + + 185 + Scimitar syndrome + + + Preferential parent + + + + + + 860 + Congenitally uncorrected transposition of the great arteries + + + Preferential parent + + + + + + 3400 + Aorto-ventricular tunnel + + + Preferential parent + + + + + + 1464 + Univentricular heart + + + Preferential parent + + + + + + 2849 + Perlman syndrome + + + Preferential parent + + + + + + 3082 + Intellectual disability-polydactyly-uncombable hair syndrome + + + Preferential parent + + + + + + 782 + Axenfeld-Rieger syndrome + + + Preferential parent + + + + + + 3259 + Syndactyly-polydactyly-ear lobe syndrome + + + Preferential parent + + + + + + 3269 + Isolated radio-ulnar synostosis + + + Preferential parent + + + + + + 3309 + Tetrasomy 5p syndrome + + + Preferential parent + + + + + + 3379 + Distal duplication 17q syndrome + + + Preferential parent + + + + + + 3411 + Double uterus-hemivagina-renal agenesis syndrome + + + Preferential parent + + + + + + 3474 + CHIME syndrome + + + Preferential parent + + + + + + 1441 + Ring chromosome 17 syndrome + + + Preferential parent + + + + + + 1787 + Acrofacial dysostosis, Palagonia type + + + Preferential parent + + + + + + 3240 + Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome + + + Preferential parent + + + + + + 2415 + Isolated rare lymphatic malformation + + + Preferential parent + + + + + + 1246 + Brachydactyly-nystagmus-cerebellar ataxia syndrome + + + Preferential parent + + + + + + 818 + Smith-Lemli-Opitz syndrome + + + Preferential parent + + + + + + 1309 + Medullary sponge kidney + + + Preferential parent + + + + + + 2345 + Isolated Klippel-Feil syndrome + + + Preferential parent + + + + + + 2260 + Oligomeganephronia + + + Preferential parent + + + + + + 531 + Miller-Dieker syndrome + + + Preferential parent + + + + + + 452 + X-linked lissencephaly with abnormal genitalia + + + Preferential parent + + + + + + 1084 + Isolated lissencephaly type 1 without known genetic defects + + + Preferential parent + + + + + + 1083 + Microlissencephaly + + + Preferential parent + + + + + + 823 + Spina bifida and other spinal dysraphisms + + + Preferential parent + + + + + + 1048 + Isolated anencephaly/exencephaly + + + Preferential parent + + + + + + 2356 + Arachnoid cyst + + + Preferential parent + + + + + + 741 + Familial mitral valve prolapse + + + Preferential parent + + + + + + 393 + 46,XX testicular difference of sex development + + + Preferential parent + + + + + + 248 + Autosomal recessive hypohidrotic ectodermal dysplasia + + + Preferential parent + + + + + + 1810 + Autosomal dominant hypohidrotic ectodermal dysplasia + + + Preferential parent + + + + + + 450 + Visceral heterotaxy + + + Preferential parent + + + + + + 898 + Wagner disease + + + Preferential parent + + + + + + 1330 + Partial atrioventricular septal defect + + + Preferential parent + + + + + + 1677 + Familial idiopathic dilatation of the right atrium + + + Preferential parent + + + + + + 1676 + Idiopathic pulmonary artery dilatation + + + Preferential parent + + + + + + 1666 + Dextrocardia + + + Preferential parent + + + + + + 1461 + Criss-cross heart + + + Preferential parent + + + + + + 1205 + Mitral atresia + + + Preferential parent + + + + + + 3192 + Supravalvular pulmonary stenosis + + + Preferential parent + + + + + + 73 + Gorham-Stout disease + + + Preferential parent + + + + + + 105 + Atresia of urethra + + + Preferential parent + + + + + + 237 + Duplication of urethra + + + Preferential parent + + + + + + 488 + Urachal cyst + + + Preferential parent + + + + + + 490 + Omphalomesenteric cyst + + + Preferential parent + + + + + + 674 + Accessory pancreas + + + Preferential parent + + + + + + 49 + Penile agenesis + + + Preferential parent + + + + + + 227 + Diphallia + + + Preferential parent + + + + + + 272 + Congenital muscular dystrophy, Fukuyama type + + + Preferential parent + + + + + + 899 + Walker-Warburg syndrome + + + Preferential parent + + + + + + 588 + Muscle-eye-brain disease + + + Preferential parent + + + + + + 30391 + Isolated biliary atresia + + + Preferential parent + + + + + + 33001 + Lymphedema-distichiasis syndrome + + + Preferential parent + + + + + + 33108 + Lethal multiple pterygium syndrome + + + Preferential parent + + + + + + 33364 + Trichothiodystrophy + + + Preferential parent + + + + + + 35093 + Non-syndromic sagittal craniosynostosis + + + Preferential parent + + + + + + 35099 + Non-syndromic bicoronal craniosynostosis + + + Preferential parent + + + + + + 35125 + Epidermal nevus syndrome + + + Preferential parent + + + + + + 35612 + Nanophthalmos + + + Preferential parent + + + + + + 35737 + Morning glory disc anomaly + + + Preferential parent + + + + + + 35981 + Polymicrogyria + + + Preferential parent + + + + + + 36367 + Distal deletion 1q syndrome + + + Preferential parent + + + + + + 40366 + Acitretin/etretinate embryopathy + + + Preferential parent + + + + + + 68335 + Rare chromosomal anomaly + + + Preferential parent + + + + + + 68341 + Multiple congenital anomalies/dysmorphic syndrome + + + Preferential parent + + + + + + 68378 + Congenital limb malformation + + + Preferential parent + + + + + + 42665 + Tietz syndrome + + + Preferential parent + + + + + + 42775 + PHACE syndrome + + + Preferential parent + + + + + + 46627 + Char syndrome + + + Preferential parent + + + + + + 46724 + Brain arteriovenous malformation + + + Preferential parent + + + + + + 48431 + Congenital cataracts-facial dysmorphism-neuropathy syndrome + + + Preferential parent + + + + + + 48471 + Lissencephaly + + + Preferential parent + + + + + + 48652 + Phelan-McDermid syndrome + + + Preferential parent + + + + + + 50810 + Microlissencephaly-micromelia syndrome + + + Preferential parent + + + + + + 50814 + Craniolenticulosutural dysplasia + + + Preferential parent + + + + + + 50815 + Branchiogenic deafness syndrome + + + Preferential parent + + + + + + 50944 + Schöpf-Schulz-Passarge syndrome + + + Preferential parent + + + + + + 51577 + Cobblestone lissencephaly + + + Preferential parent + + + + + + 52022 + Potocki-Shaffer syndrome + + + Preferential parent + + + + + + 52047 + Braddock syndrome + + + Preferential parent + + + + + + 52054 + Craniosynostosis-intracranial calcifications syndrome + + + Preferential parent + + + + + + 52055 + Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome + + + Preferential parent + + + + + + 52056 + Ulnar/fibula ray defect-brachydactyly syndrome + + + Preferential parent + + + + + + 52368 + Mohr-Tranebjaerg syndrome + + + Preferential parent + + + + + + 52429 + Branchiootic syndrome + + + Preferential parent + + + + + + 52662 + Rare teratologic disease + + + Preferential parent + + + + + + 53271 + Muenke syndrome + + + Preferential parent + + + + + + 53540 + Goldmann-Favre syndrome + + + Preferential parent + + + + + + 53696 + Arthrogryposis-anterior horn cell disease syndrome + + + Preferential parent + + + + + + 53721 + Spinal arteriovenous metameric syndrome + + + Preferential parent + + + + + + 59315 + Rhombencephalosynapsis + + + Preferential parent + + + + + + 60040 + Megalencephaly-capillary malformation-polymicrogyria syndrome + + + Preferential parent + + + + + + 63259 + Iniencephaly + + + Preferential parent + + + + + + 63260 + Craniorachischisis + + + Preferential parent + + + + + + 63269 + Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis + + + Preferential parent + + + + + + 63862 + Schisis association + + + Preferential parent + + + + + + 64542 + Acrofacial dysostosis, Kennedy-Teebi type + + + Preferential parent + + + + + + 65285 + Lhermitte-Duclos disease + + + Preferential parent + + + + + + 65286 + 3q29 microdeletion syndrome + + + Preferential parent + + + + + + 65681 + Vaginal atresia + + + Preferential parent + + + + + + 65720 + Arthrogryposis-severe scoliosis syndrome + + + Preferential parent + + + + + + 65743 + Autosomal dominant multiple pterygium syndrome + + + Preferential parent + + + + + + 65759 + Carpenter syndrome + + + Preferential parent + + + + + + 66625 + Cerebrooculonasal syndrome + + + Preferential parent + + + + + + 66629 + Goldberg-Shprintzen megacolon syndrome + + + Preferential parent + + + + + + 66630 + Congenital pseudoarthrosis of the clavicle + + + Preferential parent + + + + + + 66631 + CEDNIK syndrome + + + Preferential parent + + + + + + 66637 + Diaphanospondylodysostosis + + + Preferential parent + + + + + + 69028 + Dysostosis with brachydactyly + + + Preferential parent + + + + + + 69082 + Odonto-tricho-ungual-digito-palmar syndrome + + + Preferential parent + + + + + + 69083 + Ectodermal dysplasia with natal teeth, Turnpenny type + + + Preferential parent + + + + + + 69084 + Pure hair and nail ectodermal dysplasia + + + Preferential parent + + + + + + 69085 + Limb-mammary syndrome + + + Preferential parent + + + + + + 69087 + Naegeli-Franceschetti-Jadassohn syndrome + + + Preferential parent + + + + + + 69088 + Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome + + + Preferential parent + + + + + + 69737 + Bosley-Salih-Alorainy syndrome + + + Preferential parent + + + + + + 71267 + Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome + + + Preferential parent + + + + + + 71271 + Split hand-split foot-deafness syndrome + + + Preferential parent + + + + + + 71289 + Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome + + + Preferential parent + + + + + + 73217 + Müllerian aplasia + + + Preferential parent + + + + + + 73223 + Global developmental delay-osteopenia-ectodermal defect syndrome + + + Preferential parent + + + + + + 73246 + Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome + + + Preferential parent + + + + + + 75389 + Brain malformation-congenital heart disease-postaxial polydactyly syndrome + + + Preferential parent + + + + + + 75857 + 6q terminal deletion syndrome + + + Preferential parent + + + + + + 75858 + MORM syndrome + + + Preferential parent + + + + + + 77240 + Primary lymphedema + + + Preferential parent + + + + + + 77258 + Trichorhinophalangeal syndrome type 1 + + + Preferential parent + + + + + + 77296 + Morgagni-Stewart-Morel syndrome + + + Preferential parent + + + + + + 77298 + Anophthalmia/microphthalmia-esophageal atresia syndrome + + + Preferential parent + + + + + + 77299 + Microphthalmia-brain atrophy syndrome + + + Preferential parent + + + + + + 77300 + Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome + + + Preferential parent + + + + + + 77301 + Monosomy 9q22.3 syndrome + + + Preferential parent + + + + + + 79094 + Grange syndrome + + + Preferential parent + + + + + + 79107 + Developmental malformations-deafness-dystonia syndrome + + + Preferential parent + + + + + + 79113 + Mandibulofacial dysostosis-microcephaly syndrome + + + Preferential parent + + + + + + 79129 + Trichodysplasia-amelogenesis imperfecta syndrome + + + Preferential parent + + + + + + 79133 + Focal facial dermal dysplasia type I + + + Preferential parent + + + + + + 79447 + X-linked lethal multiple pterygium syndrome + + + Preferential parent + + + + + + 79452 + Milroy disease + + + Preferential parent + + + + + + 79474 + Atypical Werner syndrome + + + Preferential parent + + + + + + 79483 + Phakomatosis cesioflammea + + + Preferential parent + + + + + + 79484 + Phakomatosis cesiomarmorata + + + Preferential parent + + + + + + 79485 + Phakomatosis spilorosea + + + Preferential parent + + + + + + 79489 + Macrocystic lymphatic malformation + + + Preferential parent + + + + + + 79490 + Microcystic lymphatic malformation + + + Preferential parent + + + + + + 79499 + Autosomal dominant deafness-onychodystrophy syndrome + + + Preferential parent + + + + + + 79500 + DOORS syndrome + + + Preferential parent + + + + + + 83001 + Urogenital tract malformation + + + Preferential parent + + + + + + 83454 + Glomuvenous malformation + + + Preferential parent + + + + + + 83461 + Congenital primary aphakia + + + Preferential parent + + + + + + 83463 + Microtia + + + Preferential parent + + + + + + 83472 + CAMOS syndrome + + + Preferential parent + + + + + + 83473 + Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome + + + Preferential parent + + + + + + 83617 + Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome + + + Preferential parent + + + + + + 83619 + Macrostomia-preauricular tags-external ophthalmoplegia syndrome + + + Preferential parent + + + + + + 83628 + LUMBAR syndrome + + + Preferential parent + + + + + + 85112 + Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome + + + Preferential parent + + + + + + 85163 + Hypomyelination-congenital cataract syndrome + + + Preferential parent + + + + + + 85164 + Camptodactyly-tall stature-scoliosis-hearing loss syndrome + + + Preferential parent + + + + + + 85169 + Familial digital arthropathy-brachydactyly + + + Preferential parent + + + + + + 85173 + IMAGe syndrome + + + Preferential parent + + + + + + 85199 + Craniosynostosis-anal anomalies-porokeratosis syndrome + + + Preferential parent + + + + + + 85201 + Genitopatellar syndrome + + + Preferential parent + + + + + + 85202 + Keutel syndrome + + + Preferential parent + + + + + + 85203 + Acropectoral syndrome + + + Preferential parent + + + + + + 85273 + X-linked intellectual disability, Abidi type + + + Preferential parent + + + + + + 85274 + Syndromic X-linked intellectual disability 7 + + + Preferential parent + + + + + + 85275 + Microphthalmia-ankyloblepharon-intellectual disability syndrome + + + Preferential parent + + + + + + 85276 + X-linked intellectual disability, Armfield type + + + Preferential parent + + + + + + 85277 + X-linked intellectual disability, Cantagrel type + + + Preferential parent + + + + + + 85278 + Christianson syndrome + + + Preferential parent + + + + + + 85279 + KDM5C-related syndromic X-linked intellectual disability + + + Preferential parent + + + + + + 85280 + X-linked intellectual disability-cubitus valgus-dysmorphism syndrome + + + Preferential parent + + + + + + 85282 + MEHMO syndrome + + + Preferential parent + + + + + + 85284 + BRESEK syndrome + + + Preferential parent + + + + + + 85285 + X-linked intellectual disability, Schimke type + + + Preferential parent + + + + + + 85286 + X-linked intellectual disability, Shashi type + + + Preferential parent + + + + + + 85287 + X-linked intellectual disability, Siderius type + + + Preferential parent + + + + + + 85288 + X-linked intellectual disability, Stocco Dos Santos type + + + Preferential parent + + + + + + 85290 + X-linked intellectual disability, Wilson type + + + Preferential parent + + + + + + 85292 + X-linked spinocerebellar ataxia type 4 + + + Preferential parent + + + + + + 85293 + X-linked intellectual disability, Cabezas type + + + Preferential parent + + + + + + 85294 + X-linked epilepsy-learning disabilities-behavior disorders syndrome + + + Preferential parent + + + + + + 85295 + HSD10 disease, atypical type + + + Preferential parent + + + + + + 85297 + X-linked spinocerebellar ataxia type 3 + + + Preferential parent + + + + + + 85317 + X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome + + + Preferential parent + + + + + + 85319 + X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome + + + Preferential parent + + + + + + 85320 + X-linked intellectual disability-macrocephaly-macroorchidism syndrome + + + Preferential parent + + + + + + 85321 + Deafness-intellectual disability syndrome, Martin-Probst type + + + Preferential parent + + + + + + 85322 + X-linked intellectual disability, Pai type + + + Preferential parent + + + + + + 85323 + X-linked intellectual disability, Seemanova type + + + Preferential parent + + + + + + 85324 + X-linked intellectual disability, Shrimpton type + + + Preferential parent + + + + + + 85325 + X-linked intellectual disability, Stevenson type + + + Preferential parent + + + + + + 85326 + X-linked intellectual disability, Stoll type + + + Preferential parent + + + + + + 85327 + X-linked intellectual disability-acromegaly-hyperactivity syndrome + + + Preferential parent + + + + + + 85329 + X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome + + + Preferential parent + + + + + + 85332 + X-linked intellectual disability-retinitis pigmentosa syndrome + + + Preferential parent + + + + + + 85334 + X-linked neurodegenerative syndrome, Bertini type + + + Preferential parent + + + + + + 85335 + Fried syndrome + + + Preferential parent + + + + + + 85336 + X-linked neurodegenerative syndrome, Hamel type + + + Preferential parent + + + + + + 85338 + X-linked intellectual disability-ataxia-apraxia syndrome + + + Preferential parent + + + + + + 86789 + Isolated patella aplasia/hypoplasia + + + Preferential parent + + + + + + 86818 + Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome + + + Preferential parent + + + + + + 86821 + Lissencephaly type 3-familial fetal akinesia sequence syndrome + + + Preferential parent + + + + + + 86822 + Lissencephaly type 3-metacarpal bone dysplasia syndrome + + + Preferential parent + + + + + + 86823 + Lissencephaly with cerebellar hypoplasia + + + Preferential parent + + + + + + 86914 + Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome + + + Preferential parent + + + + + + 86915 + Lymphedema-atrial septal defects-facial changes syndrome + + + Preferential parent + + + + + + 88632 + Anterior segment developmental anomaly + + + Preferential parent + + + + + + 88924 + Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis + + + Preferential parent + + + + + + 88991 + Rare congenital non-syndromic heart malformation + + + Preferential parent + + + + + + 88993 + Esophageal malformation + + + Preferential parent + + + + + + 89844 + Lissencephaly syndrome, Norman-Roberts type + + + Preferential parent + + + + + + 90025 + Non-syndromic syndactyly + + + Preferential parent + + + + + + 90186 + Meige disease + + + Preferential parent + + + + + + 90307 + Parkes Weber syndrome + + + Preferential parent + + + + + + 90308 + Capillary-lymphatic-venous malformation with segmental distribution + + + Preferential parent + + + + + + 90321 + Cockayne syndrome type 1 + + + Preferential parent + + + + + + 90322 + Cockayne syndrome type 2 + + + Preferential parent + + + + + + 90324 + Cockayne syndrome type 3 + + + Preferential parent + + + + + + 90771 + Difference of sex development + + + Preferential parent + + + + + + 90776 + 46,XX difference of sex development induced by fetal androgens excess + + + Preferential parent + + + + + + 90783 + 46,XY difference of sex development due to a testosterone synthesis defect + + + Preferential parent + + + + + + 90786 + 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect + + + Preferential parent + + + + + + 90787 + 46,XY difference of sex development due to testicular steroidogenesis defect + + + Preferential parent + + + + + + 90790 + Congenital lipoid adrenal hyperplasia due to STAR deficency + + + Preferential parent + + + + + + 90791 + Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency + + + Preferential parent + + + + + + 90793 + Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency + + + Preferential parent + + + + + + 90794 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency + + + Preferential parent + + + + + + 90795 + Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency + + + Preferential parent + + + + + + 90796 + 46,XY difference of sex development due to isolated 17,20-lyase deficiency + + + Preferential parent + + + + + + 90797 + Partial androgen insensitivity syndrome + + + Preferential parent + + + + + + 91144 + 46,XX difference of sex development induced by maternal-derived androgen + + + Preferential parent + + + + + + 91357 + Duplication of the esophagus + + + Preferential parent + + + + + + 91358 + Congenital esophageal diverticulum + + + Preferential parent + + + + + + 91387 + Familial thoracic aortic aneurysm and aortic dissection + + + Preferential parent + + + + + + 91396 + Isolated cryptophthalmia + + + Preferential parent + + + + + + 91397 + Isolated ankyloblepharon filiforme adnatum + + + Preferential parent + + + + + + 91416 + Isolated congenital alacrima + + + Preferential parent + + + + + + 91483 + Rieger anomaly + + + Preferential parent + + + + + + 91489 + Isolated congenital megalocornea + + + Preferential parent + + + + + + 91490 + Isolated congenital sclerocornea + + + Preferential parent + + + + + + 91491 + Congenital ectropion uveae + + + Preferential parent + + + + + + 91494 + Macular coloboma-cleft palate-hallux valgus syndrome + + + Preferential parent + + + + + + 93100 + Renal agenesis, unilateral + + + Preferential parent + + + + + + 93101 + Renal hypoplasia + + + Preferential parent + + + + + + 93108 + Renal dysplasia + + + Preferential parent + + + + + + 93109 + Congenital megacalycosis + + + Preferential parent + + + + + + 93110 + Posterior urethral valve + + + Preferential parent + + + + + + 93172 + Renal dysplasia, unilateral + + + Preferential parent + + + + + + 93173 + Renal dysplasia, bilateral + + + Preferential parent + + + + + + 93176 + Unilateral congenital megacalycosis + + + Preferential parent + + + + + + 93177 + Congenital bilateral megacalycosis + + + Preferential parent + + + + + + 93258 + Pfeiffer syndrome type 1 + + + Preferential parent + + + + + + 93259 + Pfeiffer syndrome type 2 + + + Preferential parent + + + + + + 93260 + Pfeiffer syndrome type 3 + + + Preferential parent + + + + + + 93262 + Crouzon syndrome-acanthosis nigricans syndrome + + + Preferential parent + + + + + + 93267 + Cloverleaf skull-multiple congenital anomalies syndrome + + + Preferential parent + + + + + + 93293 + Okihiro syndrome + + + Preferential parent + + + + + + 93320 + Isolated ulnar hemimelia + + + Preferential parent + + + + + + 93321 + Isolated radial hemimelia + + + Preferential parent + + + + + + 93322 + Isolated tibial hemimelia + + + Preferential parent + + + + + + 93323 + Isolated fibular hemimelia + + + Preferential parent + + + + + + 93333 + Pelviscapular dysplasia + + + Preferential parent + + + + + + 93334 + Postaxial polydactyly type A + + + Preferential parent + + + + + + 93335 + Postaxial polydactyly type B + + + Preferential parent + + + + + + 93336 + Polydactyly of a triphalangeal thumb + + + Preferential parent + + + + + + 93337 + Polydactyly of an index finger + + + Preferential parent + + + + + + 93338 + Polysyndactyly + + + Preferential parent + + + + + + 93339 + Polydactyly of a biphalangeal thumb and/or hallux + + + Preferential parent + + + + + + 93382 + Brachydactyly type A6 + + + Preferential parent + + + + + + 93383 + Brachydactyly type B + + + Preferential parent + + + + + + 93384 + Brachydactyly type C + + + Preferential parent + + + + + + 93387 + Brachydactyly type E + + + Preferential parent + + + + + + 93388 + Brachydactyly type A1 + + + Preferential parent + + + + + + 93394 + Brachydactyly type A4 + + + Preferential parent + + + + + + 93396 + Brachydactyly type A2 + + + Preferential parent + + + + + + 93397 + Brachydactyly type A7 + + + Preferential parent + + + + + + 93402 + Syndactyly type 1 + + + Preferential parent + + + + + + 93403 + Syndactyly type 2 + + + Preferential parent + + + + + + 93404 + Syndactyly type 3 + + + Preferential parent + + + + + + 93405 + Syndactyly type 4 + + + Preferential parent + + + + + + 93406 + Syndactyly type 5 + + + Preferential parent + + + + + + 93409 + Brachydactyly-syndactyly, Zhao type + + + Preferential parent + + + + + + 93453 + Dysostosis with predominant craniofacial involvement + + + Preferential parent + + + + + + 93454 + Dysostosis with predominant vertebral and costal involvement + + + Preferential parent + + + + + + 93455 + Patellar dysostosis + + + Preferential parent + + + + + + 93457 + Non-syndromic limb reduction defect + + + Preferential parent + + + + + + 93458 + Non-syndromic polydactyly, syndactyly and/or hyperphalangy + + + Preferential parent + + + + + + 93459 + Syndrome with synostosis or other joint formation defect + + + Preferential parent + + + + + + 93460 + Overgrowth syndrome + + + Preferential parent + + + + + + 93461 + Chromosomal disease with overgrowth + + + Preferential parent + + + + + + 93545 + Renal or urinary tract malformation + + + Preferential parent + + + + + + 93546 + Non-syndromic renal or urinary tract malformation + + + Preferential parent + + + + + + 93547 + Syndromic renal or urinary tract malformation + + + Preferential parent + + + + + + 93924 + Lobar holoprosencephaly + + + Preferential parent + + + + + + 93925 + Alobar holoprosencephaly + + + Preferential parent + + + + + + 93926 + Midline interhemispheric variant of holoprosencephaly + + + Preferential parent + + + + + + 93928 + Isolated epispadias + + + Preferential parent + + + + + + 93929 + Cloacal exstrophy + + + Preferential parent + + + + + + 93930 + Classic bladder exstrophy + + + Preferential parent + + + + + + 93932 + FG syndrome type 1 + + + Preferential parent + + + + + + 93938 + Laryngotracheoesophageal cleft type 1 + + + Preferential parent + + + + + + 93939 + Laryngotracheoesophageal cleft type 2 + + + Preferential parent + + + + + + 93940 + Laryngotracheoesophageal cleft type 3 + + + Preferential parent + + + + + + 93941 + Laryngotracheoesophageal cleft type 4 + + + Preferential parent + + + + + + 93945 + X-linked intellectual disability, Porteous type + + + Preferential parent + + + + + + 93946 + Hamel cerebro-palato-cardiac syndrome + + + Preferential parent + + + + + + 93947 + X-linked intellectual disability, Golabi-Ito-Hall type + + + Preferential parent + + + + + + 93950 + X-linked intellectual disability, Sutherland-Haan type + + + Preferential parent + + + + + + 93952 + X-linked intellectual disability, Hedera type + + + Preferential parent + + + + + + 93969 + Open spinal dysraphism with a myelomeningocele + + + Preferential parent + + + + + + 93976 + Anotia + + + Preferential parent + + + + + + 94056 + Isolated humero-ulnar synostosis + + + Preferential parent + + + + + + 94065 + 15q24 microdeletion syndrome + + + Preferential parent + + + + + + 94066 + Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia + + + Preferential parent + + + + + + 94083 + Partington syndrome + + + Preferential parent + + + + + + 95232 + Lissencephaly due to LIS1 mutation + + + Preferential parent + + + + + + 95443 + Mesocardia + + + Preferential parent + + + + + + 95448 + Congenital aortic valve atresia + + + Preferential parent + + + + + + 95457 + Tricuspid valve agenesis + + + Preferential parent + + + + + + 95459 + Congenital tricuspid stenosis + + + Preferential parent + + + + + + 95461 + Straddling or overriding tricuspid valve + + + Preferential parent + + + + + + 95462 + Accessory tricuspid valve tissue + + + Preferential parent + + + + + + 95463 + Anomaly of the tricuspid subvalvular apparatus + + + Preferential parent + + + + + + 95464 + Congenital mitral valve insufficiency and/or stenosis + + + Preferential parent + + + + + + 95465 + Cleft mitral valve + + + Preferential parent + + + + + + 95474 + Double-orifice mitral valve + + + Preferential parent + + + + + + 95483 + Univentricular cardiopathy + + + Preferential parent + + + + + + 95485 + Arterial duct anomaly + + + Preferential parent + + + + + + 95486 + Premature closure of the arterial duct + + + Preferential parent + + + + + + 95491 + Congenital coronary artery aneurysm + + + Preferential parent + + + + + + 95498 + Congenital anomaly of superior vena cava + + + Preferential parent + + + + + + 95499 + Congenital anomaly of the inferior vena cava + + + Preferential parent + + + + + + 95500 + Congenital anomaly of the coronary sinus + + + Preferential parent + + + + + + 95507 + Congenital anomaly of hepatic vein + + + Preferential parent + + + + + + 95510 + Atrial appendage anomaly + + + Preferential parent + + + + + + 95699 + Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency + + + Preferential parent + + + + + + 95706 + Non-syndromic posterior hypospadias + + + Preferential parent + + + + + + 95707 + Idiopathic isolated micropenis + + + Preferential parent + + + + + + 95854 + Levocardia + + + Preferential parent + + + + + + 96055 + Tetrasomy 21 syndrome + + + Preferential parent + + + + + + 96059 + Mosaic trisomy 4 syndrome + + + Preferential parent + + + + + + 96060 + Mosaic trisomy 5 syndrome + + + Preferential parent + + + + + + 96061 + Mosaic trisomy 8 syndrome + + + Preferential parent + + + + + + 96063 + Mosaic trisomy 10 syndrome + + + Preferential parent + + + + + + 96068 + Mosaic trisomy 22 syndrome + + + Preferential parent + + + + + + 96069 + Distal duplication 1p36 syndrome + + + Preferential parent + + + + + + 96070 + Distal duplication 2p syndrome + + + Preferential parent + + + + + + 96071 + Distal duplication 3p syndrome + + + Preferential parent + + + + + + 96072 + 4p16.3 microduplication syndrome + + + Preferential parent + + + + + + 96074 + Distal duplication 7p syndrome + + + Preferential parent + + + + + + 96076 + Beckwith-Wiedemann syndrome due to 11p15 microduplication + + + Preferential parent + + + + + + 96078 + 16p13.3 microduplication syndrome + + + Preferential parent + + + + + + 96092 + 8p inverted duplication/deletion syndrome + + + Preferential parent + + + + + + 96094 + Distal duplication 2q syndrome + + + Preferential parent + + + + + + 96095 + 3q26 microduplication syndrome + + + Preferential parent + + + + + + 96096 + Distal duplication 4q syndrome + + + Preferential parent + + + + + + 96097 + Distal duplication 5q syndrome + + + Preferential parent + + + + + + 96098 + Distal duplication 6q syndrome + + + Preferential parent + + + + + + 96100 + Distal duplication 8q syndrome + + + Preferential parent + + + + + + 96101 + Distal duplication 9q syndrome + + + Preferential parent + + + + + + 96102 + Distal duplication 10q syndrome + + + Preferential parent + + + + + + 96103 + Distal duplication 11q syndrome + + + Preferential parent + + + + + + 96105 + Distal duplication 13q syndrome + + + Preferential parent + + + + + + 96106 + Distal duplication 16q syndrome + + + Preferential parent + + + + + + 96107 + Distal duplication 20q syndrome + + + Preferential parent + + + + + + 96109 + Distal duplication 22q syndrome + + + Preferential parent + + + + + + 96112 + Non-distal duplication 9q syndrome + + + Preferential parent + + + + + + 96121 + 7q11.23 microduplication syndrome + + + Preferential parent + + + + + + 96123 + Monosomy 22 syndrome + + + Preferential parent + + + + + + 96125 + Distal deletion 6p syndrome + + + Preferential parent + + + + + + 96126 + Distal deletion 7p syndrome + + + Preferential parent + + + + + + 96129 + Distal deletion 19p syndrome + + + Preferential parent + + + + + + 96145 + Distal deletion 4q syndrome + + + Preferential parent + + + + + + 96147 + Kleefstra syndrome due to 9q34 microdeletion + + + Preferential parent + + + + + + 96148 + Distal deletion 10q syndrome + + + Preferential parent + + + + + + 96149 + Distal deletion 12q syndrome + + + Preferential parent + + + + + + 96150 + Distal deletion 14q syndrome + + + Preferential parent + + + + + + 96160 + Non-distal deletion 12q syndrome + + + Preferential parent + + + + + + 96167 + Recombinant 8 syndrome + + + Preferential parent + + + + + + 96168 + Monosomy 13q34 syndrome + + + Preferential parent + + + + + + 96169 + Koolen-De Vries syndrome + + + Preferential parent + + + + + + 96170 + Emanuel syndrome + + + Preferential parent + + + + + + 96171 + Ring chromosome 2 syndrome + + + Preferential parent + + + + + + 96172 + Ring chromosome 3 syndrome + + + Preferential parent + + + + + + 96173 + Ring chromosome 9 syndrome + + + Preferential parent + + + + + + 96175 + Ring chromosome 11 syndrome + + + Preferential parent + + + + + + 96176 + Ring chromosome 13 syndrome + + + Preferential parent + + + + + + 96177 + Ring chromosome 15 syndrome + + + Preferential parent + + + + + + 96178 + Ring chromosome 16 syndrome + + + Preferential parent + + + + + + 96179 + Maternal uniparental disomy of chromosome 2 syndrome + + + Preferential parent + + + + + + 96180 + Maternal uniparental disomy of chromosome 4 syndrome + + + Preferential parent + + + + + + 96181 + Maternal uniparental disomy of chromosome 6 syndrome + + + Preferential parent + + + + + + 96182 + Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 + + + Preferential parent + + + + + + 96183 + Maternal uniparental disomy of chromosome 9 syndrome + + + Preferential parent + + + + + + 96184 + Temple syndrome due to maternal uniparental disomy of chromosome 14 + + + Preferential parent + + + + + + 96185 + Maternal uniparental disomy of chromosome 16 syndrome + + + Preferential parent + + + + + + 96186 + Maternal uniparental disomy of chromosome 20 syndrome + + + Preferential parent + + + + + + 96187 + Maternal uniparental disomy of chromosome 21 syndrome + + + Preferential parent + + + + + + 96188 + Maternal uniparental disomy of chromosome 22 syndrome + + + Preferential parent + + + + + + 96190 + Paternal uniparental disomy of chromosome 5 syndrome + + + Preferential parent + + + + + + 96191 + Paternal uniparental disomy of chromosome 6 syndrome + + + Preferential parent + + + + + + 96192 + Paternal uniparental disomy of chromosome 7 syndrome + + + Preferential parent + + + + + + 96193 + Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 + + + Preferential parent + + + + + + 96194 + Paternal uniparental disomy of chromosome 20 syndrome + + + Preferential parent + + + + + + 96195 + Paternal uniparental disomy of chromosome 21 syndrome + + + Preferential parent + + + + + + 96201 + X small rings syndrome + + + Preferential parent + + + + + + 96263 + 48,XXXY syndrome + + + Preferential parent + + + + + + 96264 + 49,XXXXY syndrome + + + Preferential parent + + + + + + 96265 + Leydig cell hypoplasia due to complete LH resistance + + + Preferential parent + + + + + + 96266 + Leydig cell hypoplasia due to partial LH resistance + + + Preferential parent + + + + + + 96269 + Isolated partial vaginal agenesis + + + Preferential parent + + + + + + 96321 + Polyploidy syndrome + + + Preferential parent + + + + + + 96325 + Isochromosome Y syndrome + + + Preferential parent + + + + + + 96333 + Rare otorhinolaryngological malformation + + + Preferential parent + + + + + + 96334 + Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 + + + Preferential parent + + + + + + 96346 + Anorectal malformation + + + Preferential parent + + + + + + 97120 + Distal arthrogryposis + + + Preferential parent + + + + + + 97214 + Eisenmenger syndrome + + + Preferential parent + + + + + + 97249 + Pontocerebellar hypoplasia type 3 + + + Preferential parent + + + + + + 97252 + Mega-cisterna magna + + + Preferential parent + + + + + + 97297 + Bohring-Opitz syndrome + + + Preferential parent + + + + + + 97339 + Dural sinus malformation with arteriovenous shunt + + + Preferential parent + + + + + + 97340 + Hunter-McAlpine syndrome + + + Preferential parent + + + + + + 97360 + Robinow syndrome + + + Preferential parent + + + + + + 97361 + Renal hypoplasia, unilateral + + + Preferential parent + + + + + + 97362 + Renal hypoplasia, bilateral + + + Preferential parent + + + + + + 97363 + Unilateral multicystic dysplastic kidney + + + Preferential parent + + + + + + 97364 + Bilateral multicystic dysplastic kidney + + + Preferential parent + + + + + + 97366 + Multiloculated renal cyst + + + Preferential parent + + + + + + 97367 + Renal tubular dysgenesis due to twin-twin transfusion + + + Preferential parent + + + + + + 97368 + Drug-related renal tubular dysgenesis + + + Preferential parent + + + + + + 97369 + Renal tubular dysgenesis of genetic origin + + + Preferential parent + + + + + + 97548 + Right isomerism + + + Preferential parent + + + + + + 97598 + Congenital renal artery stenosis + + + Preferential parent + + + + + + 97678 + Maternal uniparental disomy of chromosome 13 syndrome + + + Preferential parent + + + + + + 97685 + 17q11 microdeletion syndrome + + + Preferential parent + + + + + + 97944 + Gastroduodenal malformation + + + Preferential parent + + + + + + 97945 + Intestinal malformation + + + Preferential parent + + + + + + 97957 + Respiratory or thoracic malformation + + + Preferential parent + + + + + + 97965 + Rare surgical cardiac disease + + + Preferential parent + + + + + + 98038 + Cranial malformation + + + Preferential parent + + + + + + 98039 + Digestive tract malformation + + + Preferential parent + + + + + + 98041 + Visceral malformation of the liver, biliary tract, pancreas or spleen + + + Preferential parent + + + + + + 98043 + Diaphragmatic or abdominal wall malformation + + + Preferential parent + + + + + + 98044 + Central nervous system malformation + + + Preferential parent + + + + + + 98045 + Respiratory or mediastinal malformation + + + Preferential parent + + + + + + 98074 + Gonadal dysgenesis of gynecological interest + + + Preferential parent + + + + + + 98078 + 46,XX difference of sex development induced by androgens excess + + + Preferential parent + + + + + + 98085 + 46,XY difference of sex development + + + Preferential parent + + + + + + 98086 + 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue + + + Preferential parent + + + + + + 98087 + Syndrome with 46,XY difference of sex development + + + Preferential parent + + + + + + 98127 + Autosomal anomaly syndrome + + + Preferential parent + + + + + + 98130 + Autosomal trisomy syndrome + + + Preferential parent + + + + + + 98131 + Total autosomal trisomy syndrome + + + Preferential parent + + + + + + 98132 + Partial autosomal duplication/triplication syndrome + + + Preferential parent + + + + + + 98141 + Total autosomal monosomy syndrome + + + Preferential parent + + + + + + 98142 + Partial autosomal deletion syndrome + + + Preferential parent + + + + + + 98152 + Autosomal uniparental disomy syndrome + + + Preferential parent + + + + + + 98153 + Maternal uniparental disomy syndrome + + + Preferential parent + + + + + + 98154 + Paternal uniparental disomy syndrome + + + Preferential parent + + + + + + 98155 + Sex-chromosome anomaly syndrome + + + Preferential parent + + + + + + 98156 + Sex-chromosome number anomaly syndrome + + + Preferential parent + + + + + + 98157 + Sex-chromosome structural anomaly syndrome + + + Preferential parent + + + + + + 98158 + Chromosome Y structural anomaly syndrome + + + Preferential parent + + + + + + 98159 + Chromosome X structural anomaly syndrome + + + Preferential parent + + + + + + 98196 + Malformation syndrome with hamartosis + + + Preferential parent + + + + + + 98313 + Male infertility due to gonadal dysgenesis + + + Preferential parent + + + + + + 98514 + Malformation of the cerebellar vermis + + + Preferential parent + + + + + + 98516 + Malformation of the cerebellar hemispheres + + + Preferential parent + + + + + + 98518 + Cranial nerve and nuclear aplasia + + + Preferential parent + + + + + + 98519 + Posterior fossa malformation + + + Preferential parent + + + + + + 98523 + Non-syndromic pontocerebellar hypoplasia + + + Preferential parent + + + + + + 98553 + Developmental defect of the eye + + + Preferential parent + + + + + + 98555 + Microphthalmia-anophthalmia-coloboma + + + Preferential parent + + + + + + 98557 + Syndromic aniridia + + + Preferential parent + + + + + + 98560 + Rare palpebral disorder + + + Preferential parent + + + + + + 98561 + Congenital malformation of the eyelid + + + Preferential parent + + + + + + 98562 + Cryptophthalmia + + + Preferential parent + + + + + + 98563 + Microblepharon-ablephara syndrome + + + Preferential parent + + + + + + 98564 + Eyelid border anomaly + + + Preferential parent + + + + + + 98565 + Syndromic ankyloblepharon filiforme adnatum + + + Preferential parent + + + + + + 98566 + Syndromic eyelid coloboma + + + Preferential parent + + + + + + 98567 + Rare eyelid malposition disorder + + + Preferential parent + + + + + + 98570 + Congenital ectropion + + + Preferential parent + + + + + + 98574 + Syndromic epicanthus + + + Preferential parent + + + + + + 98575 + Syndromic telecanthus + + + Preferential parent + + + + + + 98576 + Syndromic outer canthal malposition + + + Preferential parent + + + + + + 98594 + Rare eyebrow/eyelash disorder + + + Preferential parent + + + + + + 98609 + EEC syndrome and related disorders + + + Preferential parent + + + + + + 98631 + Congenital malformation of the eye with glaucoma as a major feature + + + Preferential parent + + + + + + 98634 + Anterior segment developmental anomaly without extraocular manifestations + + + Preferential parent + + + + + + 98635 + Corneodysgenesis + + + Preferential parent + + + + + + 98652 + Lens size anomaly + + + Preferential parent + + + + + + 98655 + Lens shape anomaly + + + Preferential parent + + + + + + 98716 + Heart position anomaly + + + Preferential parent + + + + + + 98717 + Transposition of the great arteries and conotruncal cardiac anomaly + + + Preferential parent + + + + + + 98718 + Aortic malformation + + + Preferential parent + + + + + + 98719 + Pulmonary artery or pulmonary branch anomaly + + + Preferential parent + + + + + + 98720 + Atrioventricular valve anomaly + + + Preferential parent + + + + + + 98721 + Congenital tricuspid malformation + + + Preferential parent + + + + + + 98722 + Atrioventricular septal defect + + + Preferential parent + + + + + + 98723 + Hypoplastic right heart syndrome + + + Preferential parent + + + + + + 98724 + Congenital anomaly of the great arteries + + + Preferential parent + + + + + + 98725 + Ascending aorta anomaly + + + Preferential parent + + + + + + 98727 + Rare atrial defect and interatrial communication + + + Preferential parent + + + + + + 98729 + Congenital pulmonary veins anomaly + + + Preferential parent + + + + + + 98733 + Noonan syndrome and Noonan-related syndrome + + + Preferential parent + + + + + + 98754 + Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 + + + Preferential parent + + + + + + 98791 + Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 + + + Preferential parent + + + + + + 98793 + Prader-Willi syndrome due to paternal 15q11q13 deletion + + + Preferential parent + + + + + + 98794 + Angelman syndrome due to maternal 15q11q13 deletion + + + Preferential parent + + + + + + 98795 + Angelman syndrome due to paternal uniparental disomy of chromosome 15 + + + Preferential parent + + + + + + 98797 + Isochromosomy Yp syndrome + + + Preferential parent + + + + + + 98798 + Isochromosomy Yq syndrome + + + Preferential parent + + + + + + 98813 + Hypohidrotic ectodermal dysplasia with immunodeficiency + + + Preferential parent + + + + + + 98889 + Bilateral perisylvian polymicrogyria + + + Preferential parent + + + + + + 98890 + Early-onset X-linked optic atrophy + + + Preferential parent + + + + + + 98892 + Periventricular nodular heterotopia + + + Preferential parent + + + + + + 98938 + Colobomatous microphthalmia + + + Preferential parent + + + + + + 98942 + Coloboma of choroid and retina + + + Preferential parent + + + + + + 98943 + Coloboma of eye lens + + + Preferential parent + + + + + + 98944 + Coloboma of iris + + + Preferential parent + + + + + + 98945 + Coloboma of macula + + + Preferential parent + + + + + + 98946 + Coloboma of eyelid + + + Preferential parent + + + + + + 98947 + Coloboma of optic disc + + + Preferential parent + + + + + + 98948 + Congenital symblepharon + + + Preferential parent + + + + + + 98949 + Complete cryptophthalmia + + + Preferential parent + + + + + + 98950 + Partial cryptophthalmia + + + Preferential parent + + + + + + 98978 + Axenfeld anomaly + + + Preferential parent + + + + + + 99014 + X-linked Charcot-Marie-Tooth disease type 5 + + + Preferential parent + + + + + + 99042 + Congenitally uncorrected transposition of the great arteries with coarctation + + + Preferential parent + + + + + + 99043 + Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis + + + Preferential parent + + + + + + 99045 + Double outlet right ventricle with subpulmonary ventricular septal defect + + + Preferential parent + + + + + + 99046 + Double outlet right ventricle with non-committed subpulmonary ventricular septal defect + + + Preferential parent + + + + + + 99048 + Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome + + + Preferential parent + + + + + + 99049 + Pulmonary artery coming from patent ductus arteriosus + + + Preferential parent + + + + + + 99050 + Abnormal origin of right or left pulmonary artery from the aorta + + + Preferential parent + + + + + + 99051 + Discrete fixed membranous subaortic stenosis + + + Preferential parent + + + + + + 99052 + Discrete fibromuscular subaortic stenosis + + + Preferential parent + + + + + + 99053 + Tunnel subaortic stenosis + + + Preferential parent + + + + + + 99054 + Valvular pulmonary stenosis + + + Preferential parent + + + + + + 99055 + Congenital anomaly of the tricuspid valve chordae + + + Preferential parent + + + + + + 99056 + Parachute tricuspid valve + + + Preferential parent + + + + + + 99057 + Congenital mitral stenosis + + + Preferential parent + + + + + + 99058 + Hypoplasia of the mitral valve annulus + + + Preferential parent + + + + + + 99059 + Congenital supravalvular mitral ring + + + Preferential parent + + + + + + 99060 + Congenital unguarded mitral orifice + + + Preferential parent + + + + + + 99061 + Accessory mitral valve tissue + + + Preferential parent + + + + + + 99062 + Mitral valve agenesis + + + Preferential parent + + + + + + 99063 + Shone complex + + + Preferential parent + + + + + + 99064 + Straddling and/or overriding mitral valve + + + Preferential parent + + + + + + 99067 + Complete atrioventricular septal defect with ventricular hypoplasia + + + Preferential parent + + + + + + 99068 + Complete atrioventricular septal defect-tetralogy of Fallot + + + Preferential parent + + + + + + 99070 + Aorto-right ventricular tunnel + + + Preferential parent + + + + + + 99071 + Aorto-left ventricular tunnel + + + Preferential parent + + + + + + 99072 + Congenital patent ductus arteriosus aneurysm + + + Preferential parent + + + + + + 99075 + Encircling double aortic arch + + + Preferential parent + + + + + + 99076 + Persistent fifth aortic arch + + + Preferential parent + + + + + + 99077 + Kommerell diverticulum + + + Preferential parent + + + + + + 99078 + Neuhauser anomaly + + + Preferential parent + + + + + + 99079 + Cervical aortic arch + + + Preferential parent + + + + + + 99081 + Right aortic arch + + + Preferential parent + + + + + + 99082 + Dysphagia lusoria + + + Preferential parent + + + + + + 99083 + Pulmonary artery hypoplasia + + + Preferential parent + + + + + + 99084 + Peripheral pulmonary stenosis + + + Preferential parent + + + + + + 99087 + Coronary ostial stenosis or atresia + + + Preferential parent + + + + + + 99089 + Abnormal number of coronary ostia + + + Preferential parent + + + + + + 99090 + Malposition of a coronary ostium + + + Preferential parent + + + + + + 99092 + Interventricular septum aneurysm + + + Preferential parent + + + + + + 99094 + Laubry-Pezzi syndrome + + + Preferential parent + + + + + + 99095 + Congenital Gerbode defect + + + Preferential parent + + + + + + 99098 + Cor triatriatum dexter + + + Preferential parent + + + + + + 99099 + Cor triatriatum sinister + + + Preferential parent + + + + + + 99100 + Juxtaposition of the atrial appendages + + + Preferential parent + + + + + + 99101 + Ectasia of the right atrial appendage + + + Preferential parent + + + + + + 99102 + Ectasia of the left atrial appendage + + + Preferential parent + + + + + + 99103 + Atrial septal defect, ostium secundum type + + + Preferential parent + + + + + + 99104 + Atrial septal defect, coronary sinus type + + + Preferential parent + + + + + + 99105 + Atrial septal defect, sinus venosus type + + + Preferential parent + + + + + + 99106 + Atrial septal defect, ostium primum type + + + Preferential parent + + + + + + 99107 + Atrial septal aneurysm + + + Preferential parent + + + + + + 99109 + Persistent left superior vena cava connecting through coronary sinus to left-sided atrium + + + Preferential parent + + + + + + 99110 + Right superior vena cava connecting to left-sided atrium + + + Preferential parent + + + + + + 99111 + Persistent left superior vena cava connecting to the roof of left-sided atrium + + + Preferential parent + + + + + + 99112 + Absence of innominate vein + + + Preferential parent + + + + + + 99113 + Subaortic course of innominate vein + + + Preferential parent + + + + + + 99114 + Agenesis of the superior vena cava + + + Preferential parent + + + + + + 99117 + Coronary sinus stenosis + + + Preferential parent + + + + + + 99118 + Coronary sinus atresia + + + Preferential parent + + + + + + 99119 + Right inferior vena cava connecting to left-sided atrium + + + Preferential parent + + + + + + 99120 + Persistent eustachian valve + + + Preferential parent + + + + + + 99121 + Azygos continuation of the inferior vena cava + + + Preferential parent + + + + + + 99122 + Congenital stenosis of the inferior vena cava + + + Preferential parent + + + + + + 99123 + Inferior vena cava interruption without azygos continuation + + + Preferential parent + + + + + + 99124 + Congenital partial pulmonary venous return anomaly + + + Preferential parent + + + + + + 99125 + Congenital total pulmonary venous return anomaly + + + Preferential parent + + + + + + 99126 + Congenital pulmonary vein atresia + + + Preferential parent + + + + + + 99129 + Congenital complete agenesis of pericardium + + + Preferential parent + + + + + + 99130 + Congenital partial agenesis of pericardium + + + Preferential parent + + + + + + 99131 + Pleuro-pericardial cyst + + + Preferential parent + + + + + + 99141 + Lymphedema-posterior choanal atresia syndrome + + + Preferential parent + + + + + + 99177 + Isolated distichiasis + + + Preferential parent + + + + + + 99226 + Monosomy X syndrome + + + Preferential parent + + + + + + 99228 + Mosaic monosomy X syndrome + + + Preferential parent + + + + + + 99324 + Paternal uniparental disomy of chromosome 13 syndrome + + + Preferential parent + + + + + + 99329 + 48,XYYY syndrome + + + Preferential parent + + + + + + 99330 + 49,XYYYY syndrome + + + Preferential parent + + + + + + 99413 + Turner syndrome due to structural X chromosome anomalies + + + Preferential parent + + + + + + 99429 + Complete androgen insensitivity syndrome + + + Preferential parent + + + + + + 99672 + Fried's tooth and nail syndrome + + + Preferential parent + + + + + + 99688 + Dermotrichic syndrome + + + Preferential parent + + + + + + 99704 + Early-onset obesity-hyperphagia-severe developmental delay syndrome + + + Preferential parent + + + + + + 99741 + King-Denborough syndrome + + + Preferential parent + + + + + + 99742 + Amish lethal microcephaly + + + Preferential parent + + + + + + 99771 + Bifid uvula + + + Preferential parent + + + + + + 99772 + Cleft velum + + + Preferential parent + + + + + + 99776 + Mosaic trisomy 9 syndrome + + + Preferential parent + + + + + + 99796 + Subcortical band heterotopia + + + Preferential parent + + + + + + 99802 + Hemimegalencephaly + + + Preferential parent + + + + + + 99806 + Oculootodental syndrome + + + Preferential parent + + + + + + 99810 + Familial porencephaly + + + Preferential parent + + + + + + 99856 + Primary syringomyelia + + + Preferential parent + + + + + + 100011 + Lissencephaly with cerebellar hypoplasia type A + + + Preferential parent + + + + + + 100012 + Lissencephaly with cerebellar hypoplasia type B + + + Preferential parent + + + + + + 100013 + Lissencephaly with cerebellar hypoplasia type C + + + Preferential parent + + + + + + 100014 + Lissencephaly with cerebellar hypoplasia type D + + + Preferential parent + + + + + + 100015 + Lissencephaly with cerebellar hypoplasia type E + + + Preferential parent + + + + + + 100016 + Lissencephaly with cerebellar hypoplasia type F + + + Preferential parent + + + + + + 100047 + Isolated esophageal duplication cyst + + + Preferential parent + + + + + + 100048 + Isolated tubular duplication of the esophagus + + + Preferential parent + + + + + + 100071 + Mosaic trisomy 3 syndrome + + + Preferential parent + + + + + + 100973 + FRAXE intellectual disability + + + Preferential parent + + + + + + 100978 + Cloverleaf skull-asphyxiating thoracic dysplasia syndrome + + + Preferential parent + + + + + + 101023 + Cleft hard palate + + + Preferential parent + + + + + + 101029 + Sub-cortical nodular heterotopia + + + Preferential parent + + + + + + 101030 + Subependymal nodular heterotopia + + + Preferential parent + + + + + + 101043 + Congenital aortic valve dysplasia + + + Preferential parent + + + + + + 101063 + Situs inversus totalis + + + Preferential parent + + + + + + 101070 + Bilateral frontoparietal polymicrogyria + + + Preferential parent + + + + + + 101071 + Unilateral hemispheric polymicrogyria + + + Preferential parent + + + + + + 101206 + Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome + + + Preferential parent + + + + + + 101351 + Familial isolated congenital asplenia + + + Preferential parent + + + + + + 101932 + Anomaly of the mitral subvalvular apparatus + + + Preferential parent + + + + + + 102009 + Classic lissencephaly + + + Preferential parent + + + + + + 102010 + Other syndrome with lissencephaly as a major feature + + + Preferential parent + + + + + + 102011 + Lissencephaly type 3 + + + Preferential parent + + + + + + 102020 + Autosomal monosomy syndrome + + + Preferential parent + + + + + + 102283 + Multiple congenital anomalies/dysmorphic syndrome-intellectual disability + + + Preferential parent + + + + + + 102285 + Multiple congenital anomalies/dysmorphic syndrome without intellectual disability + + + Preferential parent + + + + + + 108959 + Non-syndromic esophageal malformation + + + Preferential parent + + + + + + 108961 + Syndromic esophageal malformation + + + Preferential parent + + + + + + 108963 + Non-syndromic gastroduodenal malformation + + + Preferential parent + + + + + + 108965 + Syndromic gastroduodenal malformation + + + Preferential parent + + + + + + 108967 + Non-syndromic intestinal malformation + + + Preferential parent + + + + + + 108969 + Syndromic intestinal malformation + + + Preferential parent + + + + + + 108971 + Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen + + + Preferential parent + + + + + + 108973 + Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen + + + Preferential parent + + + + + + 108977 + Non-syndromic diaphragmatic or abdominal wall malformation + + + Preferential parent + + + + + + 108979 + Syndromic diaphragmatic or abdominal wall malformation + + + Preferential parent + + + + + + 108989 + Non-syndromic central nervous system malformation + + + Preferential parent + + + + + + 108991 + Syndrome with a central nervous system malformation as a major feature + + + Preferential parent + + + + + + 108993 + Non-syndromic respiratory or mediastinal malformation + + + Preferential parent + + + + + + 108995 + Syndromic respiratory or mediastinal malformation + + + Preferential parent + + + + + + 109007 + Arthrogryposis syndrome + + + Preferential parent + + + + + + 109009 + Syndrome with limb malformations as a major feature + + + Preferential parent + + + + + + 109011 + Non-syndromic limb malformation + + + Preferential parent + + + + + + 117573 + Syndromic anorectal malformation + + + Preferential parent + + + + + + 137608 + Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome + + + Preferential parent + + + + + + 137622 + Intractable diarrhea-choanal atresia-eye anomalies syndrome + + + Preferential parent + + + + + + 137628 + Cardiac anomalies-heterotaxy syndrome + + + Preferential parent + + + + + + 137634 + Overgrowth-macrocephaly-facial dysmorphism syndrome + + + Preferential parent + + + + + + 137667 + Capillary malformation-arteriovenous malformation + + + Preferential parent + + + + + + 137776 + Lethal congenital contracture syndrome type 2 + + + Preferential parent + + + + + + 137783 + Lethal congenital contracture syndrome type 3 + + + Preferential parent + + + + + + 137831 + X-linked intellectual disability-cerebellar hypoplasia syndrome + + + Preferential parent + + + + + + 137888 + Auriculocondylar syndrome + + + Preferential parent + + + + + + 137898 + Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome + + + Preferential parent + + + + + + 137914 + Choanal atresia + + + Preferential parent + + + + + + 137917 + Choanal atresia, unilateral + + + Preferential parent + + + + + + 137920 + Choanal atresia, bilateral + + + Preferential parent + + + + + + 137926 + Primary laryngeal lymphangioma + + + Preferential parent + + + + + + 137935 + Airway infantile hemangioma + + + Preferential parent + + + + + + 138041 + Pierre Robin syndrome associated with collagen disease + + + Preferential parent + + + + + + 138044 + Rare disease with Pierre Robin syndrome + + + Preferential parent + + + + + + 138047 + Pierre Robin syndrome associated with a chromosomal anomaly + + + Preferential parent + + + + + + 138050 + Pierre Robin syndrome associated with branchial archs anomalies + + + Preferential parent + + + + + + 138055 + Pierre Robin syndrome associated with bone disease + + + Preferential parent + + + + + + 138059 + Teratogenic Pierre Robin syndrome + + + Preferential parent + + + + + + 139009 + Developmental anomaly of metabolic origin + + + Preferential parent + + + + + + 139012 + Rare bone development disorder + + + Preferential parent + + + + + + 139021 + Malformation syndrome with short stature + + + Preferential parent + + + + + + 139024 + Overgrowth/obesity syndrome + + + Preferential parent + + + + + + 139027 + Rare developmental defect with skin/mucosae involvement + + + Preferential parent + + + + + + 139030 + Rare developmental defect with connective tissue involvement + + + Preferential parent + + + + + + 139033 + Progeroid syndrome + + + Preferential parent + + + + + + 139036 + Branchial arch or oral-acral syndrome + + + Preferential parent + + + + + + 139039 + Orofacial clefting syndrome + + + Preferential parent + + + + + + 139042 + Malformation syndrome with odontal and/or periodontal component + + + Preferential parent + + + + + + 139390 + Non-syndromic craniosynostosis + + + Preferential parent + + + + + + 139393 + Syndromic craniosynostosis + + + Preferential parent + + + + + + 139450 + Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome + + + Preferential parent + + + + + + 139466 + SERKAL syndrome + + + Preferential parent + + + + + + 139471 + Microphthalmia with brain and digit anomalies + + + Preferential parent + + + + + + 139474 + 17q11.2 microduplication syndrome + + + Preferential parent + + + + + + 140436 + Familial intraosseous vascular malformation + + + Preferential parent + + + + + + 140874 + Joubert syndrome and related disorders + + + Preferential parent + + + + + + 140908 + Brachydactyly type B2 + + + Preferential parent + + + + + + 140917 + Stapes ankylosis with broad thumbs and toes + + + Preferential parent + + + + + + 140936 + Lelis syndrome + + + Preferential parent + + + + + + 140944 + CLOVES syndrome + + + Preferential parent + + + + + + 140952 + Syndactyly-telecanthus-anogenital and renal malformations syndrome + + + Preferential parent + + + + + + 140963 + Bilateral microtia-deafness-cleft palate syndrome + + + Preferential parent + + + + + + 140976 + RHYNS syndrome + + + Preferential parent + + + + + + 140997 + Orofaciodigital syndrome + + + Preferential parent + + + + + + 141000 + Orofaciodigital syndrome type 11 + + + Preferential parent + + + + + + 141007 + Orofaciodigital syndrome type 9 + + + Preferential parent + + + + + + 141013 + First branchial cleft anomaly + + + Preferential parent + + + + + + 141022 + Second branchial cleft anomaly + + + Preferential parent + + + + + + 141030 + Third branchial cleft anomaly + + + Preferential parent + + + + + + 141037 + Fourth branchial cleft anomaly + + + Preferential parent + + + + + + 141061 + Commissural lip fistula + + + Preferential parent + + + + + + 141064 + Isolated lower lip fistula + + + Preferential parent + + + + + + 141074 + External auditory canal aplasia/hypoplasia + + + Preferential parent + + + + + + 141077 + Epignathus + + + Preferential parent + + + + + + 141083 + Nasolacrimal duct cyst + + + Preferential parent + + + + + + 141091 + Polyrrhinia + + + Preferential parent + + + + + + 141096 + Supernumerary nostril + + + Preferential parent + + + + + + 141099 + Proboscis lateralis + + + Preferential parent + + + + + + 141118 + Nasal encephalocele + + + Preferential parent + + + + + + 141132 + Oculo-auriculo-vertebral spectrum + + + Preferential parent + + + + + + 141145 + Hemifacial hyperplasia + + + Preferential parent + + + + + + 141148 + Hemifacial myohyperplasia + + + Preferential parent + + + + + + 141152 + Isolated congenital hypoglossia/aglossia + + + Preferential parent + + + + + + 141163 + Glossopalatine ankylosis + + + Preferential parent + + + + + + 141179 + Non-involuting congenital hemangioma + + + Preferential parent + + + + + + 141184 + Rapidly involuting congenital hemangioma + + + Preferential parent + + + + + + 141189 + Cerebrofacial arteriovenous metameric syndrome + + + Preferential parent + + + + + + 141209 + Diffuse lymphatic malformation + + + Preferential parent + + + + + + 141214 + Isolated congenital syngnathia + + + Preferential parent + + + + + + 141219 + Nasal dorsum fistula + + + Preferential parent + + + + + + 141229 + Facial cleft + + + Preferential parent + + + + + + 141234 + Median facial cleft + + + Preferential parent + + + + + + 141239 + Median cleft of the upper lip and maxilla + + + Preferential parent + + + + + + 141242 + Paramedian nasal cleft + + + Preferential parent + + + + + + 141253 + Oblique facial cleft + + + Preferential parent + + + + + + 141258 + Tessier number 4 facial cleft + + + Preferential parent + + + + + + 141261 + Tessier number 5 facial cleft + + + Preferential parent + + + + + + 141265 + Tessier number 6 facial cleft + + + Preferential parent + + + + + + 141269 + Lateral facial cleft + + + Preferential parent + + + + + + 141276 + Tessier number 7 facial cleft + + + Preferential parent + + + + + + 141288 + Midline cervical cleft + + + Preferential parent + + + + + + 141291 + Cleft lip and alveolus + + + Preferential parent + + + + + + 141333 + Biemond syndrome type 2 + + + Preferential parent + + + + + + 155832 + Rare head and neck malformation + + + Preferential parent + + + + + + 155835 + Cysts and fistulae of the face and oral cavity + + + Preferential parent + + + + + + 155838 + Pinnae fistula or cyst + + + Preferential parent + + + + + + 155867 + Paramedian facial cleft + + + Preferential parent + + + + + + 155878 + Submucosal cleft palate + + + Preferential parent + + + + + + 155884 + Coloboma of superior eyelid + + + Preferential parent + + + + + + 155889 + Coloboma of inferior eyelid + + + Preferential parent + + + + + + 155896 + Otomandibular dysplasia + + + Preferential parent + + + + + + 155899 + Mandibulofacial dysostosis + + + Preferential parent + + + + + + 156202 + Otomandibular dysplasia associated with monogenic syndromes + + + Preferential parent + + + + + + 156207 + Macroglossia + + + Preferential parent + + + + + + 156212 + Hypoglossia/aglossia + + + Preferential parent + + + + + + 156215 + Oromandibular-limb anomalies syndrome + + + Preferential parent + + + + + + 156224 + Paralytic facial malformation + + + Preferential parent + + + + + + 156237 + Syndrome or malformation associated with head and neck malformations + + + Preferential parent + + + + + + 156243 + Pinnae and external auditory canal anomaly + + + Preferential parent + + + + + + 156246 + Nose and cavum anomaly + + + Preferential parent + + + + + + 156249 + Larynx anomaly + + + Preferential parent + + + + + + 156252 + Tracheal anomaly + + + Preferential parent + + + + + + 156532 + Rare syndrome with cardiac malformations + + + Preferential parent + + + + + + 156622 + Genetic urogenital tract malformation + + + Preferential parent + + + + + + 157769 + Situs ambiguus + + + Preferential parent + + + + + + 157791 + Epithelioid hemangioendothelioma + + + Preferential parent + + + + + + 157801 + Mesoaxial synostotic syndactyly with phalangeal reduction + + + Preferential parent + + + + + + 157808 + Isolated pseudoarthrosis of the limbs + + + Preferential parent + + + + + + 157832 + Craniorhiny + + + Preferential parent + + + + + + 157954 + ANE syndrome + + + Preferential parent + + + + + + 162516 + Isolated congenital nasal pyriform aperture stenosis + + + Preferential parent + + + + + + 163209 + Non-syndromic cerebral malformation due to abnormal neuronal migration + + + Preferential parent + + + + + + 163721 + Rolandic epilepsy-speech dyspraxia syndrome + + + Preferential parent + + + + + + 163937 + X-linked intellectual disability, Najm type + + + Preferential parent + + + + + + 163956 + X-linked intellectual disability, Nascimento type + + + Preferential parent + + + + + + 163961 + X-linked cerebral-cerebellar-coloboma syndrome + + + Preferential parent + + + + + + 163971 + X-linked intellectual disability, Cilliers type + + + Preferential parent + + + + + + 163976 + X-linked intellectual disability, Van Esch type + + + Preferential parent + + + + + + 163979 + X-linked intellectual disability-craniofacioskeletal syndrome + + + Preferential parent + + + + + + 163985 + Hyperekplexia-epilepsy syndrome + + + Preferential parent + + + + + + 164004 + Middle and/or inner ear anomaly + + + Preferential parent + + + + + + 165704 + Non-syndromic urogenital tract malformation + + + Preferential parent + + + + + + 165707 + Syndromic urogenital tract malformation + + + Preferential parent + + + + + + 166063 + Pontocerebellar hypoplasia type 4 + + + Preferential parent + + + + + + 166073 + Pontocerebellar hypoplasia type 6 + + + Preferential parent + + + + + + 166108 + Birk-Barel syndrome + + + Preferential parent + + + + + + 168558 + 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency + + + Preferential parent + + + + + + 168563 + 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome + + + Preferential parent + + + + + + 168593 + Sudden infant death-dysgenesis of the testes syndrome + + + Preferential parent + + + + + + 168624 + Familial scaphocephaly syndrome, McGillivray type + + + Preferential parent + + + + + + 168796 + Heart-hand syndrome, Slovenian type + + + Preferential parent + + + + + + 168984 + CLAPO syndrome + + + Preferential parent + + + + + + 169163 + Familial scaphocephaly syndrome + + + Preferential parent + + + + + + 171220 + Isolated rectal duplication + + + Preferential parent + + + + + + 171680 + Lissencephaly due to TUBA1A mutation + + + Preferential parent + + + + + + 171703 + Microcephaly-polymicrogyria-corpus callosum agenesis syndrome + + + Preferential parent + + + + + + 171719 + Cutis laxa-Marfanoid syndrome + + + Preferential parent + + + + + + 171829 + 6q16 microdeletion syndrome + + + Preferential parent + + + + + + 171839 + Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome + + + Preferential parent + + + + + + 171844 + Blindness-scoliosis-arachnodactyly syndrome + + + Preferential parent + + + + + + 171851 + MEDNIK syndrome + + + Preferential parent + + + + + + 171929 + Trisomy 10p syndrome + + + Preferential parent + + + + + + 177901 + Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 + + + Preferential parent + + + + + + 177904 + Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 + + + Preferential parent + + + + + + 177907 + Prader-Willi syndrome due to translocation + + + Preferential parent + + + + + + 177910 + Prader-Willi syndrome due to imprinting mutation + + + Preferential parent + + + + + + 178303 + 8q22.1 microdeletion syndrome + + + Preferential parent + + + + + + 178364 + Syndromic microphthalmia type 5 + + + Preferential parent + + + + + + 178377 + Osteosclerosis-developmental delay-craniosynostosis syndrome + + + Preferential parent + + + + + + 178382 + Congenital vertical talus + + + Preferential parent + + + + + + 180062 + Uterovaginal malformation + + + Preferential parent + + + + + + 180065 + Non-syndromic uterovaginal malformation + + + Preferential parent + + + + + + 180068 + Partial bilateral aplasia of the Müllerian ducts + + + Preferential parent + + + + + + 180071 + Unilateral aplasia of the Müllerian ducts + + + Preferential parent + + + + + + 180074 + True unicornuate uterus + + + Preferential parent + + + + + + 180079 + Pseudounicornuate uterus + + + Preferential parent + + + + + + 180086 + Didelphys uterus + + + Preferential parent + + + + + + 180106 + Bicervical bicornuate uterus and blind hemivagina + + + Preferential parent + + + + + + 180111 + Bicervical bicornuate uterus with patent cervix and vagina + + + Preferential parent + + + + + + 180114 + Unicervical bicornuate uterus + + + Preferential parent + + + + + + 180122 + Septate uterus + + + Preferential parent + + + + + + 180126 + Complete septate uterus + + + Preferential parent + + + + + + 180129 + Partial septate uterus + + + Preferential parent + + + + + + 180134 + Bicornuate uterus + + + Preferential parent + + + + + + 180139 + Uterine hypoplasia + + + Preferential parent + + + + + + 180142 + Absence of uterine body + + + Preferential parent + + + + + + 180145 + Uterine cervical aplasia and agenesis + + + Preferential parent + + + + + + 180148 + Syndromic uterovaginal malformation + + + Preferential parent + + + + + + 180151 + Rare vaginal malformation + + + Preferential parent + + + + + + 180154 + Septate vagina + + + Preferential parent + + + + + + 180157 + Longitudinal vaginal septum + + + Preferential parent + + + + + + 180160 + Transverse vaginal septum + + + Preferential parent + + + + + + 180163 + Rare breast malformation + + + Preferential parent + + + + + + 180170 + Excess breast volume or number + + + Preferential parent + + + + + + 180173 + Deficient breast volume or number + + + Preferential parent + + + + + + 180182 + Supernumerary breasts + + + Preferential parent + + + + + + 180188 + Isolated congenital breast hypoplasia/aplasia + + + Preferential parent + + + + + + 180193 + Syndromic breast hypoplasia/aplasia + + + Preferential parent + + + + + + 180766 + Malformative syndrome with dentinogenesis imperfecta + + + Preferential parent + + + + + + 180776 + Non-syndromic diaphragmatic or thoracic malformation + + + Preferential parent + + + + + + 180779 + Syndromic diaphragmatic or thoracic malformation + + + Preferential parent + + + + + + 182061 + Cerebellar malformation + + + Preferential parent + + + + + + 182108 + Thoracic malformation + + + Preferential parent + + + + + + 182111 + Respiratory malformation + + + Preferential parent + + + + + + 182117 + Non-syndromic urogenital tract malformation of female + + + Preferential parent + + + + + + 182121 + Non-syndromic urogenital tract malformation of male + + + Preferential parent + + + + + + 182124 + Non-syndromic urogenital tract malformation of male and female + + + Preferential parent + + + + + + 183422 + Polymalformative genetic syndrome with increased risk of developing cancer + + + Preferential parent + + + + + + 183506 + Genetic central nervous system malformation + + + Preferential parent + + + + + + 183530 + Rare genetic developmental defect during embryogenesis + + + Preferential parent + + + + + + 183533 + Genetic multiple congenital anomalies/dysmorphic syndrome + + + Preferential parent + + + + + + 183536 + Genetic congenital limb malformation + + + Preferential parent + + + + + + 183539 + Genetic renal or urinary tract malformation + + + Preferential parent + + + + + + 183542 + Genetic cranial malformation + + + Preferential parent + + + + + + 183545 + Genetic digestive tract malformation + + + Preferential parent + + + + + + 183548 + Genetic visceral malformation of the liver, biliary tract, pancreas or spleen + + + Preferential parent + + + + + + 183554 + Genetic respiratory or mediastinal malformation + + + Preferential parent + + + + + + 183557 + Genetic developmental defect of the eye + + + Preferential parent + + + + + + 183570 + Genetic malformation syndrome with short stature + + + Preferential parent + + + + + + 183573 + Genetic overgrowth/obesity syndrome + + + Preferential parent + + + + + + 183576 + Genetic branchial arch or oral-acral syndrome + + + Preferential parent + + + + + + 183580 + Genetic malformation syndrome with odontal and/or periodontal component + + + Preferential parent + + + + + + 183583 + Genetic head and neck malformation + + + Preferential parent + + + + + + 183622 + Genetic respiratory malformation + + + Preferential parent + + + + + + 199293 + Congenital microgastria + + + Preferential parent + + + + + + 199302 + Isolated cleft lip + + + Preferential parent + + + + + + 199306 + Cleft lip/palate + + + Preferential parent + + + + + + 199310 + Tetragametic chimerism syndrome + + + Preferential parent + + + + + + 199315 + Familial clubfoot with or without associated lower limb anomalies + + + Preferential parent + + + + + + 199318 + 15q13.3 microdeletion syndrome + + + Preferential parent + + + + + + 199332 + Endocrine-cerebro-osteodysplasia syndrome + + + Preferential parent + + + + + + 199630 + Isolated cerebellar vermis hypoplasia + + + Preferential parent + + + + + + 199633 + Non-syndromic cerebral malformation + + + Preferential parent + + + + + + 199639 + Syndrome with corpus callosum agenesis/dysgenesis as a major feature + + + Preferential parent + + + + + + 199647 + Isolated encephalocele + + + Preferential parent + + + + + + 202948 + Syndromic microphthalmia-anophthalmia-coloboma + + + Preferential parent + + + + + + 208441 + Bilateral parasagittal parieto-occipital polymicrogyria + + + Preferential parent + + + + + + 208444 + Bilateral frontal polymicrogyria + + + Preferential parent + + + + + + 208447 + Bilateral generalized polymicrogyria + + + Preferential parent + + + + + + 209905 + Brain-lung-thyroid syndrome + + + Preferential parent + + + + + + 210144 + Lethal polymalformative syndrome, Boissel type + + + Preferential parent + + + + + + 210548 + Macrocephaly-intellectual disability-autism syndrome + + + Preferential parent + + + + + + 210584 + Spindle cell hemangioma + + + Preferential parent + + + + + + 210589 + Rare infantile hemangioma + + + Preferential parent + + + + + + 211240 + Genetic vascular anomaly + + + Preferential parent + + + + + + 211243 + Simple vascular malformation + + + Preferential parent + + + + + + 211247 + Rare capillary malformation + + + Preferential parent + + + + + + 211277 + Complex vascular malformation with associated anomalies + + + Preferential parent + + + + + + 216675 + Transposition of the great arteries + + + Preferential parent + + + + + + 216694 + Congenitally corrected transposition of the great arteries + + + Preferential parent + + + + + + 216718 + Isolated congenitally uncorrected transposition of the great arteries + + + Preferential parent + + + + + + 216729 + Congenitally uncorrected transposition of the great arteries with cardiac malformation + + + Preferential parent + + + + + + 217008 + Segmental venous malformation + + + Preferential parent + + + + + + 217017 + Zechi-Ceide syndrome + + + Preferential parent + + + + + + 217026 + Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type + + + Preferential parent + + + + + + 217059 + Isolated nail clubbing + + + Preferential parent + + + + + + 217266 + BNAR syndrome + + + Preferential parent + + + + + + 217335 + RIN2 syndrome + + + Preferential parent + + + + + + 217340 + 17q21.31 microduplication syndrome + + + Preferential parent + + + + + + 217346 + 19q13.11 microdeletion syndrome + + + Preferential parent + + + + + + 217377 + Microduplication Xp11.22p11.23 syndrome + + + Preferential parent + + + + + + 217385 + 17p13.3 microduplication syndrome + + + Preferential parent + + + + + + 220386 + Semilobar holoprosencephaly + + + Preferential parent + + + + + + 220493 + Joubert syndrome with ocular defect + + + Preferential parent + + + + + + 220497 + Joubert syndrome with renal defect + + + Preferential parent + + + + + + 221008 + Rothmund-Thomson syndrome type 1 + + + Preferential parent + + + + + + 221016 + Rothmund-Thomson syndrome type 2 + + + Preferential parent + + + + + + 221054 + Acrocephalopolydactyly + + + Preferential parent + + + + + + 221061 + Familial cerebral cavernous malformation + + + Preferential parent + + + + + + 221120 + Pseudoaminopterin syndrome + + + Preferential parent + + + + + + 221126 + Fowler vasculopathy + + + Preferential parent + + + + + + 221139 + Combined immunodeficiency with facio-oculo-skeletal anomalies + + + Preferential parent + + + + + + 221145 + Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies + + + Preferential parent + + + + + + 225147 + Sporadic infantile bilateral striatal necrosis + + + Preferential parent + + + + + + 225154 + Familial infantile bilateral striatal necrosis + + + Preferential parent + + + + + + 228184 + Heart-hand syndrome + + + Preferential parent + + + + + + 228190 + Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome + + + Preferential parent + + + + + + 228384 + 5q14.3 microdeletion syndrome + + + Preferential parent + + + + + + 228390 + Frontonasal dysplasia-alopecia-genital anomalies syndrome + + + Preferential parent + + + + + + 228399 + 8q12 microduplication syndrome + + + Preferential parent + + + + + + 228402 + 2q23.1 microdeletion syndrome + + + Preferential parent + + + + + + 228410 + Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome + + + Preferential parent + + + + + + 228415 + 5q35 microduplication syndrome + + + Preferential parent + + + + + + 228426 + Syndromic multisystem autoimmune disease due to Itch deficiency + + + Preferential parent + + + + + + 231117 + Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 + + + Preferential parent + + + + + + 231120 + Beckwith-Wiedemann syndrome due to CDKN1C mutation + + + Preferential parent + + + + + + 231127 + Beckwith-Wiedemann syndrome due to 11p15 microdeletion + + + Preferential parent + + + + + + 231130 + Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion + + + Preferential parent + + + + + + 231137 + Silver-Russell syndrome due to 7p11.2p13 microduplication + + + Preferential parent + + + + + + 231140 + Silver-Russell syndrome due to an imprinting defect of 11p15 + + + Preferential parent + + + + + + 231144 + Silver-Russell syndrome due to 11p15 microduplication + + + Preferential parent + + + + + + 231147 + Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 + + + Preferential parent + + + + + + 231169 + Usher syndrome type 1 + + + Preferential parent + + + + + + 231178 + Usher syndrome type 2 + + + Preferential parent + + + + + + 231183 + Usher syndrome type 3 + + + Preferential parent + + + + + + 231742 + Epibulbar lipodermoid-preauricular appendage-polythelia syndrome + + + Preferential parent + + + + + + 232035 + Infectious embryofetopathy + + + Preferential parent + + + + + + 238446 + 15q11q13 microduplication syndrome + + + Preferential parent + + + + + + 238468 + Hypohidrotic ectodermal dysplasia + + + Preferential parent + + + + + + 238578 + Familial clubfoot due to 17q23.1q23.2 microduplication + + + Preferential parent + + + + + + 238744 + Mammary-digital-nail syndrome + + + Preferential parent + + + + + + 238750 + 4q21 microdeletion syndrome + + + Preferential parent + + + + + + 238769 + 1q44 microdeletion syndrome + + + Preferential parent + + + + + + 240760 + Nijmegen breakage syndrome-like disorder + + + Preferential parent + + + + + + 244283 + Biliary atresia with splenic malformation syndrome + + + Preferential parent + + + + + + 247262 + Hyperphosphatasia-intellectual disability syndrome + + + Preferential parent + + + + + + 247768 + Müllerian aplasia and hyperandrogenism + + + Preferential parent + + + + + + 247775 + Mayer-Rokitansky-Küster-Hauser syndrome type 1 + + + Preferential parent + + + + + + 247820 + Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome + + + Preferential parent + + + + + + 247827 + Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome + + + Preferential parent + + + + + + 250923 + Isolated aniridia + + + Preferential parent + + + + + + 250972 + Polymicrogyria with optic nerve hypoplasia + + + Preferential parent + + + + + + 250989 + 1q21.1 microdeletion syndrome + + + Preferential parent + + + + + + 250994 + 1q21.1 microduplication syndrome + + + Preferential parent + + + + + + 250999 + 1q41q42 microdeletion syndrome + + + Preferential parent + + + + + + 251004 + Paternal uniparental disomy of chromosome 1 syndrome + + + Preferential parent + + + + + + 251009 + Maternal uniparental disomy of chromosome 1 syndrome + + + Preferential parent + + + + + + 251014 + 2q31.1 microdeletion syndrome + + + Preferential parent + + + + + + 251019 + 2q32q33 deletion syndrome + + + Preferential parent + + + + + + 251028 + SATB2-associated syndrome due to a chromosomal rearrangement + + + Preferential parent + + + + + + 251038 + 3q29 microduplication syndrome + + + Preferential parent + + + + + + 251043 + Ring chromosome 5 syndrome + + + Preferential parent + + + + + + 251046 + 6p22 microdeletion syndrome + + + Preferential parent + + + + + + 251056 + 6q25.2q25.3 microdeletion syndrome + + + Preferential parent + + + + + + 251061 + 7q31 microdeletion syndrome + + + Preferential parent + + + + + + 251066 + 8p11.2 deletion syndrome + + + Preferential parent + + + + + + 251071 + 8p23.1 microdeletion syndrome + + + Preferential parent + + + + + + 251076 + 8p23.1 duplication syndrome + + + Preferential parent + + + + + + 251383 + CK syndrome + + + Preferential parent + + + + + + 251510 + 46,XY partial gonadal dysgenesis + + + Preferential parent + + + + + + 251515 + Distal arthrogryposis type 10 + + + Preferential parent + + + + + + 251529 + Toxic or drug-related embryofetopathy + + + Preferential parent + + + + + + 251535 + Maternal disease-related embryofetopathy + + + Preferential parent + + + + + + 254346 + 19p13.12 microdeletion syndrome + + + Preferential parent + + + + + + 254351 + Distal 7q11.23 microdeletion syndrome + + + Preferential parent + + + + + + 254516 + Temple syndrome + + + Preferential parent + + + + + + 254519 + Kagami-Ogata syndrome + + + Preferential parent + + + + + + 254525 + Temple syndrome due to paternal 14q32.2 microdeletion + + + Preferential parent + + + + + + 254528 + Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion + + + Preferential parent + + + + + + 254531 + Temple syndrome due to paternal 14q32.2 hypomethylation + + + Preferential parent + + + + + + 254534 + Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation + + + Preferential parent + + + + + + 261102 + Distal 7q11.23 microduplication syndrome + + + Preferential parent + + + + + + 261112 + Monosomy 9p syndrome + + + Preferential parent + + + + + + 261120 + 14q11.2 microdeletion syndrome + + + Preferential parent + + + + + + 261183 + 15q11.2 microdeletion syndrome + + + Preferential parent + + + + + + 261190 + Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion + + + Preferential parent + + + + + + 261197 + Proximal 16p11.2 microdeletion syndrome + + + Preferential parent + + + + + + 261204 + 16p11.2p12.2 microduplication syndrome + + + Preferential parent + + + + + + 261211 + 16p11.2p12.2 microdeletion syndrome + + + Preferential parent + + + + + + 261222 + Distal 16p11.2 microdeletion syndrome + + + Preferential parent + + + + + + 261229 + 14q11.2 microduplication syndrome + + + Preferential parent + + + + + + 261236 + 16p13.11 microdeletion syndrome + + + Preferential parent + + + + + + 261243 + 16p13.11 microduplication syndrome + + + Preferential parent + + + + + + 261250 + 16q24.3 microdeletion syndrome + + + Preferential parent + + + + + + 261257 + Distal 17p13.3 microdeletion syndrome + + + Preferential parent + + + + + + 261265 + 17q12 microdeletion syndrome + + + Preferential parent + + + + + + 261272 + 17q12 microduplication syndrome + + + Preferential parent + + + + + + 261279 + 17q23.1q23.2 microdeletion syndrome + + + Preferential parent + + + + + + 261290 + Trisomy 17p syndrome + + + Preferential parent + + + + + + 261295 + 20p12.3 microdeletion syndrome + + + Preferential parent + + + + + + 261304 + Paternal 20q13.2q13.3 microdeletion syndrome + + + Preferential parent + + + + + + 261311 + 20q13.33 microdeletion syndrome + + + Preferential parent + + + + + + 261318 + Trisomy 20p syndrome + + + Preferential parent + + + + + + 261323 + 21q22.11q22.12 microdeletion syndrome + + + Preferential parent + + + + + + 261330 + Distal 22q11.2 microdeletion syndrome + + + Preferential parent + + + + + + 261337 + Distal 22q11.2 microduplication syndrome + + + Preferential parent + + + + + + 261344 + Trisomy 1q syndrome + + + Preferential parent + + + + + + 261349 + 2p15p16.1 microdeletion syndrome + + + Preferential parent + + + + + + 261476 + Xp21 deletion syndrome + + + Preferential parent + + + + + + 261483 + Xq27.3q28 duplication syndrome + + + Preferential parent + + + + + + 261494 + Kleefstra syndrome + + + Preferential parent + + + + + + 261501 + Atypical Norrie disease due to Xp11.3 microdeletion + + + Preferential parent + + + + + + 261519 + Maternal uniparental disomy of chromosome X syndrome + + + Preferential parent + + + + + + 261524 + Paternal uniparental disomy of chromosome X syndrome + + + Preferential parent + + + + + + 261529 + Ring chromosome Y syndrome + + + Preferential parent + + + + + + 261534 + 49,XXXYY syndrome + + + Preferential parent + + + + + + 261537 + Mowat-Wilson syndrome due to monosomy 2q22 + + + Preferential parent + + + + + + 261552 + Mowat-Wilson syndrome due to a ZEB2 point mutation + + + Preferential parent + + + + + + 261600 + Alagille syndrome due to 20p12 microdeletion + + + Preferential parent + + + + + + 261619 + Alagille syndrome due to a JAG1 point mutation + + + Preferential parent + + + + + + 261629 + Alagille syndrome due to a NOTCH2 point mutation + + + Preferential parent + + + + + + 261638 + Okihiro syndrome due to 20q13 microdeletion + + + Preferential parent + + + + + + 261647 + Okihiro syndrome due to a point mutation + + + Preferential parent + + + + + + 261652 + Kleefstra syndrome due to a point mutation + + + Preferential parent + + + + + + 261766 + Partial deletion of chromosome 1 syndrome + + + Preferential parent + + + + + + 261771 + Partial deletion of chromosome 2 syndrome + + + Preferential parent + + + + + + 261776 + Partial deletion of chromosome 3 syndrome + + + Preferential parent + + + + + + 261781 + Partial deletion of chromosome 4 syndrome + + + Preferential parent + + + + + + 261786 + Partial deletion of chromosome 5 syndrome + + + Preferential parent + + + + + + 261791 + Partial deletion of chromosome 6 syndrome + + + Preferential parent + + + + + + 261796 + Partial deletion of chromosome 7 syndrome + + + Preferential parent + + + + + + 261801 + Partial deletion of chromosome 8 syndrome + + + Preferential parent + + + + + + 261806 + Partial deletion of chromosome 9 syndrome + + + Preferential parent + + + + + + 261811 + Partial deletion of chromosome 10 syndrome + + + Preferential parent + + + + + + 261816 + Partial deletion of chromosome 11 syndrome + + + Preferential parent + + + + + + 261821 + Partial deletion of the long arm of chromosome 12 syndrome + + + Preferential parent + + + + + + 261826 + Partial deletion of chromosome 16 syndrome + + + Preferential parent + + + + + + 261831 + Partial deletion of chromosome 17 syndrome + + + Preferential parent + + + + + + 261836 + Partial deletion of chromosome 18 syndrome + + + Preferential parent + + + + + + 261841 + Partial deletion of chromosome 19 syndrome + + + Preferential parent + + + + + + 261846 + Partial deletion of chromosome 20 syndrome + + + Preferential parent + + + + + + 261857 + Partial deletion of the short arm of chromosome 1 syndrome + + + Preferential parent + + + + + + 261866 + Partial deletion of the short arm of chromosome 2 syndrome + + + Preferential parent + + + + + + 261875 + Partial deletion of the short arm of chromosome 3 syndrome + + + Preferential parent + + + + + + 261884 + Partial deletion of the short arm of chromosome 4 syndrome + + + Preferential parent + + + + + + 261893 + Partial deletion of the short arm of chromosome 5 syndrome + + + Preferential parent + + + + + + 261902 + Partial deletion of the short arm of chromosome 6 syndrome + + + Preferential parent + + + + + + 261911 + Partial deletion of the short arm of chromosome 7 syndrome + + + Preferential parent + + + + + + 261920 + Partial deletion of the short arm of chromosome 8 syndrome + + + Preferential parent + + + + + + 261929 + Partial deletion of the short arm of chromosome 9 syndrome + + + Preferential parent + + + + + + 261938 + Partial deletion of the short arm of chromosome 10 syndrome + + + Preferential parent + + + + + + 261947 + Partial deletion of the short arm of chromosome 11 syndrome + + + Preferential parent + + + + + + 261956 + Partial deletion of the short arm of chromosome 16 syndrome + + + Preferential parent + + + + + + 261965 + Partial deletion of the short arm of chromosome 17 syndrome + + + Preferential parent + + + + + + 261974 + Partial deletion of the short arm of chromosome 18 syndrome + + + Preferential parent + + + + + + 261983 + Partial deletion of the short arm of chromosome 19 syndrome + + + Preferential parent + + + + + + 261992 + Partial deletion of the short arm of chromosome 20 syndrome + + + Preferential parent + + + + + + 262001 + Partial deletion of the long arm of chromosome 1 syndrome + + + Preferential parent + + + + + + 262010 + Partial deletion of the long arm of chromosome 2 syndrome + + + Preferential parent + + + + + + 262019 + Partial deletion of the long arm of chromosome 3 syndrome + + + Preferential parent + + + + + + 262029 + Partial deletion of the long arm of chromosome 4 syndrome + + + Preferential parent + + + + + + 262038 + Partial deletion of the long arm of chromosome 5 syndrome + + + Preferential parent + + + + + + 262047 + Partial deletion of the long arm of chromosome 6 syndrome + + + Preferential parent + + + + + + 262056 + Partial deletion of the long arm of chromosome 7 syndrome + + + Preferential parent + + + + + + 262065 + Partial deletion of the long arm of chromosome 8 syndrome + + + Preferential parent + + + + + + 262074 + Partial deletion of the long arm of chromosome 9 syndrome + + + Preferential parent + + + + + + 262083 + Partial deletion of the long arm of chromosome 10 syndrome + + + Preferential parent + + + + + + 262092 + Partial deletion of the long arm of chromosome 11 syndrome + + + Preferential parent + + + + + + 262101 + Partial deletion of the long arm of chromosome 13 syndrome + + + Preferential parent + + + + + + 262110 + Partial deletion of the long arm of chromosome 14 syndrome + + + Preferential parent + + + + + + 262119 + Partial deletion of the long arm of chromosome 15 syndrome + + + Preferential parent + + + + + + 262128 + Partial deletion of the long arm of chromosome 16 syndrome + + + Preferential parent + + + + + + 262137 + Partial deletion of the long arm of chromosome 17 syndrome + + + Preferential parent + + + + + + 262146 + Partial deletion of the long arm of chromosome 18 syndrome + + + Preferential parent + + + + + + 262155 + Partial deletion of the long arm of chromosome 19 syndrome + + + Preferential parent + + + + + + 262164 + Partial deletion of the long arm of chromosome 20 syndrome + + + Preferential parent + + + + + + 262173 + Partial deletion of the long arm of chromosome 21 syndrome + + + Preferential parent + + + + + + 262182 + Partial deletion of the long arm of chromosome 22 syndrome + + + Preferential parent + + + + + + 262191 + Partial duplication of chromosome 1 syndrome + + + Preferential parent + + + + + + 262196 + Partial duplication of chromosome 2 syndrome + + + Preferential parent + + + + + + 262201 + Partial duplication of chromosome 3 syndrome + + + Preferential parent + + + + + + 262206 + Partial duplication of chromosome 4 syndrome + + + Preferential parent + + + + + + 262211 + Partial duplication/triplication of chromosome 5 syndrome + + + Preferential parent + + + + + + 262628 + Partial duplication of chromosome 6 syndrome + + + Preferential parent + + + + + + 262633 + Partial duplication of chromosome 7 syndrome + + + Preferential parent + + + + + + 262638 + Partial duplication of chromosome 8 syndrome + + + Preferential parent + + + + + + 262643 + Partial duplication/triplication of chromosome 9 syndrome + + + Preferential parent + + + + + + 262648 + Partial duplication of chromosome 10 syndrome + + + Preferential parent + + + + + + 262653 + Partial duplication of chromosome 11 syndrome + + + Preferential parent + + + + + + 262658 + Partial duplication/triplication of the short arm of chromosome 12 syndrome + + + Preferential parent + + + + + + 262672 + Partial duplication of chromosome 16 syndrome + + + Preferential parent + + + + + + 262677 + Partial duplication of chromosome 17 syndrome + + + Preferential parent + + + + + + 262682 + Partial duplication/triplication of chromosome 18 syndrome + + + Preferential parent + + + + + + 262687 + Partial duplication of chromosome 19 syndrome + + + Preferential parent + + + + + + 262692 + Partial duplication of chromosome 20 syndrome + + + Preferential parent + + + + + + 262698 + Partial duplication of the short arm of chromosome 2 syndrome + + + Preferential parent + + + + + + 262707 + Partial duplication of the short arm of chromosome 3 syndrome + + + Preferential parent + + + + + + 262716 + Partial duplication of the short arm of chromosome 4 syndrome + + + Preferential parent + + + + + + 262725 + Partial duplication/triplication of the short arm of chromosome 5 syndrome + + + Preferential parent + + + + + + 262740 + Partial duplication of the short arm of chromosome 6 syndrome + + + Preferential parent + + + + + + 262749 + Partial duplication of the short arm of chromosome 7 syndrome + + + Preferential parent + + + + + + 262758 + Partial duplication of the short arm of chromosome 8 syndrome + + + Preferential parent + + + + + + 262767 + Partial duplication/triplication of the short arm of chromosome 9 syndrome + + + Preferential parent + + + + + + 262776 + Partial duplication of the short arm of chromosome 10 syndrome + + + Preferential parent + + + + + + 262785 + Partial duplication of the short arm of chromosome 11 syndrome + + + Preferential parent + + + + + + 262794 + Partial duplication of the short arm of chromosome 16 syndrome + + + Preferential parent + + + + + + 262803 + Partial duplication of the short arm of chromosome 17 syndrome + + + Preferential parent + + + + + + 262812 + Partial duplication/triplication of the short arm of chromosome 18 syndrome + + + Preferential parent + + + + + + 262833 + Partial duplication of the long arm of chromosome 1 syndrome + + + Preferential parent + + + + + + 262842 + Partial duplication of the long arm of chromosome 2 syndrome + + + Preferential parent + + + + + + 262851 + Partial duplication of the long arm of chromosome 3 syndrome + + + Preferential parent + + + + + + 262860 + Partial duplication of the long arm of chromosome 4 syndrome + + + Preferential parent + + + + + + 262869 + Partial duplication of the long arm of chromosome 5 syndrome + + + Preferential parent + + + + + + 262878 + Partial duplication of the long arm of chromosome 6 syndrome + + + Preferential parent + + + + + + 262887 + Partial duplication of the long arm of chromosome 7 syndrome + + + Preferential parent + + + + + + 262896 + Partial duplication of the long arm of chromosome 8 syndrome + + + Preferential parent + + + + + + 262905 + Partial duplication of the long arm of chromosome 9 syndrome + + + Preferential parent + + + + + + 262914 + Partial duplication of the long arm of chromosome 10 syndrome + + + Preferential parent + + + + + + 262923 + Partial duplication of the long arm of chromosome 11 syndrome + + + Preferential parent + + + + + + 262932 + Partial duplication of the long arm of chromosome 13 syndrome + + + Preferential parent + + + + + + 262941 + Partial duplication of the long arm of chromosome 14 syndrome + + + Preferential parent + + + + + + 262950 + Partial duplication of the long arm of chromosome 15 syndrome + + + Preferential parent + + + + + + 262959 + Partial duplication of the long arm of chromosome 16 syndrome + + + Preferential parent + + + + + + 262968 + Partial duplication of the long arm of chromosome 17 syndrome + + + Preferential parent + + + + + + 262977 + Partial duplication of the long arm of chromosome 18 syndrome + + + Preferential parent + + + + + + 262986 + Partial duplication of the long arm of chromosome 19 syndrome + + + Preferential parent + + + + + + 262995 + Partial duplication of the long arm of chromosome 20 syndrome + + + Preferential parent + + + + + + 263004 + Partial duplication of the long arm of chromosome 22 syndrome + + + Preferential parent + + + + + + 263410 + Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome + + + Preferential parent + + + + + + 263708 + Complex chromosomal rearrangement syndrome + + + Preferential parent + + + + + + 263714 + X chromosome number anomaly syndrome + + + Preferential parent + + + + + + 263717 + X chromosome number anomaly with female phenotype syndrome + + + Preferential parent + + + + + + 263720 + X chromosome number anomaly with male phenotype syndrome + + + Preferential parent + + + + + + 263723 + Polysomy of X chromosome syndrome + + + Preferential parent + + + + + + 263726 + Partial deletion of chromosome X syndrome + + + Preferential parent + + + + + + 263731 + Partial deletion of the short arm of the chromosome X syndrome + + + Preferential parent + + + + + + 263746 + Y chromosome number anomaly syndrome + + + Preferential parent + + + + + + 263749 + X and Y chromosomal anomaly syndrome + + + Preferential parent + + + + + + 263756 + Partial deletion of the long arm of chromosome X syndrome + + + Preferential parent + + + + + + 263768 + Partial duplication of chromosome X syndrome + + + Preferential parent + + + + + + 263775 + Partial duplication of the short arm of chromosome X syndrome + + + Preferential parent + + + + + + 263783 + Partial duplication of the long arm of chromosome X syndrome + + + Preferential parent + + + + + + 263793 + Uniparental disomy of chromosome X syndrome + + + Preferential parent + + + + + + 264200 + 14q22q23 microdeletion syndrome + + + Preferential parent + + + + + + 264431 + Partial duplication of the short arm of chromosome 1 syndrome + + + Preferential parent + + + + + + 264450 + Trisomy 8p syndrome + + + Preferential parent + + + + + + 268249 + Mycophenolate mofetil embryopathy + + + Preferential parent + + + + + + 268261 + DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion + + + Preferential parent + + + + + + 268357 + Neural tube closure defect + + + Preferential parent + + + + + + 268363 + Open iniencephaly + + + Preferential parent + + + + + + 268366 + Closed iniencephaly + + + Preferential parent + + + + + + 268369 + Open spinal dysraphism + + + Preferential parent + + + + + + 268744 + Spinal dysraphism with a posterior meningocele + + + Preferential parent + + + + + + 268810 + Isolated posterior meningocele + + + Preferential parent + + + + + + 268813 + Myelocystocele + + + Preferential parent + + + + + + 268817 + Cephalocele + + + Preferential parent + + + + + + 268820 + Cranial meningocele + + + Preferential parent + + + + + + 268823 + Occipital encephalocele + + + Preferential parent + + + + + + 268826 + Parietal encephalocele + + + Preferential parent + + + + + + 268829 + Basal encephalocele + + + Preferential parent + + + + + + 268843 + Malformation of the neurenteric canal, spinal cord and column + + + Preferential parent + + + + + + 268861 + Primary tethered cord syndrome + + + Preferential parent + + + + + + 268865 + Neurenteric cyst + + + Preferential parent + + + + + + 268868 + Isolated amyelia + + + Preferential parent + + + + + + 268882 + Arnold-Chiari malformation type I + + + Preferential parent + + + + + + 268926 + Midline cerebral malformation + + + Preferential parent + + + + + + 268936 + Isolated arhinencephaly + + + Preferential parent + + + + + + 268940 + Bilateral polymicrogyria + + + Preferential parent + + + + + + 268943 + Unilateral polymicrogyria + + + Preferential parent + + + + + + 268947 + Unilateral focal polymicrogyria + + + Preferential parent + + + + + + 268950 + Cerebral cortical dysplasia + + + Preferential parent + + + + + + 269190 + Encephaloclastic disorder + + + Preferential parent + + + + + + 269194 + Central nervous system cystic malformation + + + Preferential parent + + + + + + 269197 + Glioependymal/ependymal cyst + + + Preferential parent + + + + + + 269203 + Isolated cerebellar vermis agenesis + + + Preferential parent + + + + + + 269206 + Isolated total cerebellar vermis agenesis + + + Preferential parent + + + + + + 269209 + Isolated partial cerebellar vermis agenesis + + + Preferential parent + + + + + + 269212 + Isolated Dandy-Walker malformation with hydrocephalus + + + Preferential parent + + + + + + 269215 + Isolated Dandy-Walker malformation without hydrocephalus + + + Preferential parent + + + + + + 269218 + Isolated unilateral hemispheric cerebellar hypoplasia + + + Preferential parent + + + + + + 269221 + Isolated bilateral hemispheric cerebellar hypoplasia + + + Preferential parent + + + + + + 269224 + Global cerebellar malformation + + + Preferential parent + + + + + + 269229 + Pontine tegmental cap dysplasia + + + Preferential parent + + + + + + 269505 + Congenital communicating hydrocephalus + + + Preferential parent + + + + + + 269510 + Congenital non-communicating hydrocephalus + + + Preferential parent + + + + + + 269523 + Syndrome with a cerebellar malformation as a major feature + + + Preferential parent + + + + + + 269528 + Syndrome with microcephaly as a major feature + + + Preferential parent + + + + + + 269531 + Other syndrome with a central nervous system malformation as a major feature + + + Preferential parent + + + + + + 269546 + Syndrome with a Dandy-Walker malformation as a major feature + + + Preferential parent + + + + + + 269550 + Genetic non-syndromic central nervous system malformation + + + Preferential parent + + + + + + 269553 + Genetic cerebral malformation + + + Preferential parent + + + + + + 269557 + Genetic posterior fossa malformation + + + Preferential parent + + + + + + 269560 + Genetic cerebellar malformation + + + Preferential parent + + + + + + 269564 + Genetic syndrome with a central nervous system malformation as a major feature + + + Preferential parent + + + + + + 269567 + Genetic syndrome with a cerebellar malformation as a major feature + + + Preferential parent + + + + + + 269570 + Genetic syndrome with a Dandy-Walker malformation as a major feature + + + Preferential parent + + + + + + 269573 + Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature + + + Preferential parent + + + + + + 271853 + Genetic cardiac anomaly + + + Preferential parent + + + + + + 275543 + L1 syndrome + + + Preferential parent + + + + + + 276280 + Hemihyperplasia-multiple lipomatosis syndrome + + + Preferential parent + + + + + + 276413 + 10q22.3q23.3 microdeletion syndrome + + + Preferential parent + + + + + + 276422 + 10q22.3q23.3 microduplication syndrome + + + Preferential parent + + + + + + 276432 + Ogden syndrome + + + Preferential parent + + + + + + 276630 + Symptomatic form of Coffin-Lowry syndrome in female carriers + + + Preferential parent + + + + + + 280195 + Septopreoptic holoprosencephaly + + + Preferential parent + + + + + + 280200 + Microform holoprosencephaly + + + Preferential parent + + + + + + 280205 + Laryngotracheoesophageal cleft type 0 + + + Preferential parent + + + + + + 280270 + Pelizaeus-Merzbacher-like disease + + + Preferential parent + + + + + + 280325 + Distal deletion 12p syndrome + + + Preferential parent + + + + + + 280384 + Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome + + + Preferential parent + + + + + + 280403 + Familial omphalocele syndrome with facial dysmorphism + + + Preferential parent + + + + + + 280558 + Warsaw breakage syndrome + + + Preferential parent + + + + + + 280633 + Multiple congenital anomalies-hypotonia-seizures syndrome + + + Preferential parent + + + + + + 280640 + Occipital pachygyria and polymicrogyria + + + Preferential parent + + + + + + 280679 + Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome + + + Preferential parent + + + + + + 280763 + Severe intellectual disability and progressive spastic paraplegia + + + Preferential parent + + + + + + 280802 + Intralobar congenital pulmonary sequestration + + + Preferential parent + + + + + + 280811 + Extralobar congenital pulmonary sequestration + + + Preferential parent + + + + + + 280821 + Communicating congenital bronchopulmonary-foregut malformation + + + Preferential parent + + + + + + 280827 + Congenital pulmonary airway malformation type 0 + + + Preferential parent + + + + + + 280832 + Congenital pulmonary airway malformation type 1 + + + Preferential parent + + + + + + 280840 + Congenital pulmonary airway malformation type 2 + + + Preferential parent + + + + + + 280847 + Congenital pulmonary airway malformation type 3 + + + Preferential parent + + + + + + 280854 + Congenital pulmonary airway malformation type 4 + + + Preferential parent + + + + + + 282124 + Partial deletion of chromosome 12 syndrome + + + Preferential parent + + + + + + 284149 + Craniosynostosis-dental anomalies + + + Preferential parent + + + + + + 284160 + 8q21.11 microdeletion syndrome + + + Preferential parent + + + + + + 284169 + Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion + + + Preferential parent + + + + + + 284180 + Xp22.13p22.2 duplication syndrome + + + Preferential parent + + + + + + 284339 + Pontocerebellar hypoplasia type 7 + + + Preferential parent + + + + + + 289266 + Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation + + + Preferential parent + + + + + + 289465 + Isolated congenital adermatoglyphia + + + Preferential parent + + + + + + 289483 + Intellectual disability-alacrima-achalasia syndrome + + + Preferential parent + + + + + + 289513 + 12q15q21 microdeletion syndrome + + + Preferential parent + + + + + + 289522 + Microtriplication 11q24.1 syndrome + + + Preferential parent + + + + + + 289553 + Dysmorphism-conductive hearing loss-heart defect syndrome + + + Preferential parent + + + + + + 289825 + Late-onset primary lymphedema without systemic or visceral involvement + + + Preferential parent + + + + + + 293144 + Familial clubfoot due to 5q31 microdeletion + + + Preferential parent + + + + + + 293150 + Familial clubfoot due to PITX1 point mutation + + + Preferential parent + + + + + + 293642 + Blepharophimosis-intellectual disability syndrome + + + Preferential parent + + + + + + 293707 + Blepharophimosis-intellectual disability syndrome, MKB type + + + Preferential parent + + + + + + 293725 + Blepharophimosis-intellectual disability syndrome, Verloes type + + + Preferential parent + + + + + + 293843 + 3MC syndrome + + + Preferential parent + + + + + + 293864 + Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome + + + Preferential parent + + + + + + 293925 + Lethal occipital encephalocele-skeletal dysplasia syndrome + + + Preferential parent + + + + + + 293939 + Distal Xq28 microduplication syndrome + + + Preferential parent + + + + + + 293948 + 1p21.3 microdeletion syndrome + + + Preferential parent + + + + + + 293958 + Hypertelorism-preauricular sinus-punctual pits-deafness syndrome + + + Preferential parent + + + + + + 293967 + Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome + + + Preferential parent + + + + + + 294016 + Microcephaly-capillary malformation syndrome + + + Preferential parent + + + + + + 294026 + Syndactyly-nystagmus syndrome due to 2q31.1 microduplication + + + Preferential parent + + + + + + 294060 + Multiple pterygium syndrome + + + Preferential parent + + + + + + 294415 + Renal-hepatic-pancreatic dysplasia + + + Preferential parent + + + + + + 294925 + Non-syndromic amelia + + + Preferential parent + + + + + + 294927 + Non-syndromic intercalary limb defects + + + Preferential parent + + + + + + 294944 + Congenital deformities of limbs + + + Preferential parent + + + + + + 294947 + Congenital deformities of fingers + + + Preferential parent + + + + + + 294949 + Non-syndromic joint formation defects + + + Preferential parent + + + + + + 294951 + Congenital joint dislocations + + + Preferential parent + + + + + + 294953 + Non-syndromic limb overgrowth + + + Preferential parent + + + + + + 294955 + Syndrome with limb reduction defects + + + Preferential parent + + + + + + 294957 + Dysostosis with combined reduction defects of upper and lower limbs + + + Preferential parent + + + + + + 294959 + Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy + + + Preferential parent + + + + + + 294963 + Popliteal pterygium syndrome + + + Preferential parent + + + + + + 294965 + Lethal congenital contracture syndrome + + + Preferential parent + + + + + + 294967 + Isolated amelia of upper limb + + + Preferential parent + + + + + + 294969 + Isolated amelia of lower limb + + + Preferential parent + + + + + + 294971 + Isolated tetra-amelia + + + Preferential parent + + + + + + 294973 + Isolated humeral agenesis/hypoplasia + + + Preferential parent + + + + + + 294975 + Isolated absence of upper arm and forearm with hand present + + + Preferential parent + + + + + + 294977 + Isolated absence of thigh and lower leg with foot present + + + Preferential parent + + + + + + 294979 + Isolated absence of both forearm and hand + + + Preferential parent + + + + + + 294981 + Isolated absence of both lower leg and foot + + + Preferential parent + + + + + + 294983 + Isolated acheiria + + + Preferential parent + + + + + + 294986 + Isolated apodia + + + Preferential parent + + + + + + 294988 + Isolated hypoplasia of thumb + + + Preferential parent + + + + + + 295000 + Amniotic band syndrome + + + Preferential parent + + + + + + 295002 + Isolated hyperphalangy + + + Preferential parent + + + + + + 295004 + Central polydactyly + + + Preferential parent + + + + + + 295012 + Syndactyly type 6 + + + Preferential parent + + + + + + 295014 + Familial isolated clinodactyly of fingers + + + Preferential parent + + + + + + 295016 + Camptodactyly of fingers + + + Preferential parent + + + + + + 295018 + Congenital pseudoarthrosis of the tibia + + + Preferential parent + + + + + + 295020 + Congenital pseudoarthrosis of the femur + + + Preferential parent + + + + + + 295022 + Congenital pseudoarthrosis of the fibula + + + Preferential parent + + + + + + 295024 + Congenital pseudoarthrosis of the radius + + + Preferential parent + + + + + + 295026 + Congenital pseudoarthrosis of the ulna + + + Preferential parent + + + + + + 295028 + Isolated tibio-fibular synostosis + + + Preferential parent + + + + + + 295030 + True congenital shoulder dislocation + + + Preferential parent + + + + + + 295032 + Isolated congenital radial head dislocation + + + Preferential parent + + + + + + 295034 + Congenital knee dislocation + + + Preferential parent + + + + + + 295036 + Congenital patella dislocation + + + Preferential parent + + + + + + 295044 + Macrodactyly of fingers + + + Preferential parent + + + + + + 295047 + Macrodactyly of toes + + + Preferential parent + + + + + + 295049 + Upper limb hypertrophy + + + Preferential parent + + + + + + 295051 + Lower limb hypertrophy + + + Preferential parent + + + + + + 295187 + Zygodactyly type 1 + + + Preferential parent + + + + + + 295189 + Zygodactyly type 2 + + + Preferential parent + + + + + + 295191 + Zygodactyly type 3 + + + Preferential parent + + + + + + 295193 + Zygodactyly type 4 + + + Preferential parent + + + + + + 295195 + Synpolydactyly type 1 + + + Preferential parent + + + + + + 295197 + Synpolydactyly type 2 + + + Preferential parent + + + + + + 295199 + Synpolydactyly type 3 + + + Preferential parent + + + + + + 295201 + Congenital vertical talus, unilateral + + + Preferential parent + + + + + + 295203 + Congenital vertical talus, bilateral + + + Preferential parent + + + + + + 295225 + Congenital elbow dislocation, unilateral + + + Preferential parent + + + + + + 295227 + Congenital elbow dislocation, bilateral + + + Preferential parent + + + + + + 295229 + Congenital genu recurvatum + + + Preferential parent + + + + + + 295232 + Congenital genu flexum + + + Preferential parent + + + + + + 295239 + Macrodactyly of fingers, unilateral + + + Preferential parent + + + + + + 295241 + Macrodactyly of fingers, bilateral + + + Preferential parent + + + + + + 295243 + Macrodactyly of toes, unilateral + + + Preferential parent + + + + + + 295245 + Macrodactyly of toes, bilateral + + + Preferential parent + + + + + + 300305 + 11p15.4 microduplication syndrome + + + Preferential parent + + + + + + 300496 + Multiple congenital anomalies-hypotonia-seizures syndrome type 2 + + + Preferential parent + + + + + + 300570 + Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation + + + Preferential parent + + + + + + 300573 + Polymicrogyria due to TUBB2B mutation + + + Preferential parent + + + + + + 300766 + Laminopathy with premature aging + + + Preferential parent + + + + + + 306504 + Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome + + + Preferential parent + + + + + + 306542 + Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome + + + Preferential parent + + + + + + 306617 + X-linked complicated spastic paraplegia type 1 + + + Preferential parent + + + + + + 307766 + Curly hair-acral keratoderma-caries syndrome + + + Preferential parent + + + + + + 307936 + Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome + + + Preferential parent + + + + + + 313781 + 20p13 microdeletion syndrome + + + Preferential parent + + + + + + 313795 + Jawad syndrome + + + Preferential parent + + + + + + 313884 + 12p12.1 microdeletion syndrome + + + Preferential parent + + + + + + 313892 + Developmental and speech delay due to SOX5 deficiency + + + Preferential parent + + + + + + 313947 + 2q23.1 microduplication syndrome + + + Preferential parent + + + + + + 314002 + Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome + + + Preferential parent + + + + + + 314034 + 7p22.1 microduplication syndrome + + + Preferential parent + + + + + + 314041 + Marfanoid habitus-inguinal hernia-advanced bone age syndrome + + + Preferential parent + + + + + + 314432 + Spigelian hernia-cryptorchidism syndrome + + + Preferential parent + + + + + + 314555 + Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome + + + Preferential parent + + + + + + 314575 + Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome + + + Preferential parent + + + + + + 314585 + 15q overgrowth syndrome + + + Preferential parent + + + + + + 314588 + Distal triplication 15q syndrome + + + Preferential parent + + + + + + 314597 + Chudley-McCullough syndrome + + + Preferential parent + + + + + + 314621 + Duplication of the pituitary gland + + + Preferential parent + + + + + + 314662 + Segmental progressive overgrowth syndrome with fibroadipose hyperplasia + + + Preferential parent + + + + + + 314679 + Cerebrofacioarticular syndrome + + + Preferential parent + + + + + + 314697 + Acquired porencephaly + + + Preferential parent + + + + + + 315306 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form + + + Preferential parent + + + + + + 315311 + Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form + + + Preferential parent + + + + + + 316244 + Partial deletion of the short arm of chromosome 12 syndrome + + + Preferential parent + + + + + + 319171 + Distal 17p13.1 microdeletion syndrome + + + Preferential parent + + + + + + 319182 + Wiedemann-Steiner syndrome + + + Preferential parent + + + + + + 319195 + Chondroectodermal dysplasia with night blindness + + + Preferential parent + + + + + + 319340 + Carney complex-trismus-pseudocamptodactyly syndrome + + + Preferential parent + + + + + + 324313 + 9p13 microdeletion syndrome + + + Preferential parent + + + + + + 324410 + X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome + + + Preferential parent + + + + + + 324416 + Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome + + + Preferential parent + + + + + + 324540 + Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome + + + Preferential parent + + + + + + 324569 + Pontocerebellar hypoplasia type 8 + + + Preferential parent + + + + + + 324601 + X-linked cleft palate and ankyloglossia + + + Preferential parent + + + + + + 324761 + Microcephalic primordial dwarfism + + + Preferential parent + + + + + + 324764 + Trichorhinophalangeal syndrome + + + Preferential parent + + + + + + 325055 + 46,XX disorder of gonadal development + + + Preferential parent + + + + + + 325061 + 46,XX difference of sex development induced by fetoplacental androgens excess + + + Preferential parent + + + + + + 325093 + 46,XX difference of sex development induced by endogenous maternal-derived androgen + + + Preferential parent + + + + + + 325099 + 46,XX difference of sex development induced by exogenous maternal-derived androgen + + + Preferential parent + + + + + + 325109 + Syndrome with 46,XX difference of sex development + + + Preferential parent + + + + + + 325118 + 46,XY disorder of gonadal development + + + Preferential parent + + + + + + 325124 + Testicular agenesis + + + Preferential parent + + + + + + 325345 + 46,XY ovotesticular difference of sex development + + + Preferential parent + + + + + + 325351 + 46,XY difference of sex development of endocrine origin + + + Preferential parent + + + + + + 325357 + 46,XY difference of sex development due to impaired androgen production + + + Preferential parent + + + + + + 325448 + Leydig cell hypoplasia due to LHB deficiency + + + Preferential parent + + + + + + 325511 + 46,XY difference of sex development due to a cholesterol synthesis defect + + + Preferential parent + + + + + + 325524 + Classic congenital lipoid adrenal hyperplasia due to STAR deficency + + + Preferential parent + + + + + + 325529 + Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency + + + Preferential parent + + + + + + 325537 + 46,XY difference of sex development induced by maternal exposure to endocrine disruptors + + + Preferential parent + + + + + + 325546 + Sex chromosome difference of sex development + + + Preferential parent + + + + + + 325620 + Difference of sex development of gynecological interest + + + Preferential parent + + + + + + 325632 + 46,XY difference of sex development of gynecological interest + + + Preferential parent + + + + + + 325638 + Syndrome with difference of sex development of gynecological interest + + + Preferential parent + + + + + + 325665 + Genetic difference of sex development of gynecological interest + + + Preferential parent + + + + + + 325690 + Genetic difference of sex development + + + Preferential parent + + + + + + 325697 + Genetic 46,XX difference of sex development + + + Preferential parent + + + + + + 325706 + Genetic 46,XY difference of sex development + + + Preferential parent + + + + + + 325713 + Genetic 46,XY difference of sex development of endocrine origin + + + Preferential parent + + + + + + 329191 + Tall stature-long halluces-multiple extra-epiphyses syndrome + + + Preferential parent + + + + + + 329224 + Schuurs-Hoeijmakers syndrome + + + Preferential parent + + + + + + 329319 + Thrombocythemia with distal limb defects + + + Preferential parent + + + + + + 329329 + Autosomal recessive frontotemporal pachygyria + + + Preferential parent + + + + + + 329457 + Distal arthrogryposis type 5D + + + Preferential parent + + + + + + 329802 + 5p13 microduplication syndrome + + + Preferential parent + + + + + + 329813 + Mosaic genome-wide paternal uniparental disomy syndrome + + + Preferential parent + + + + + + 330206 + Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability + + + Preferential parent + + + + + + 352490 + Autism spectrum disorder due to AUTS2 deficiency + + + Preferential parent + + + + + + 352530 + Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome + + + Preferential parent + + + + + + 352577 + Bainbridge-Ropers syndrome + + + Preferential parent + + + + + + 352629 + 16q24.1 microdeletion syndrome + + + Preferential parent + + + + + + 352665 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion + + + Preferential parent + + + + + + 352687 + Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies + + + Preferential parent + + + + + + 352712 + Facial dysmorphism-immunodeficiency-livedo-short stature syndrome + + + Preferential parent + + + + + + 353277 + Rubinstein-Taybi syndrome due to CREBBP mutations + + + Preferential parent + + + + + + 353281 + Rubinstein-Taybi syndrome due to 16p13.3 microdeletion + + + Preferential parent + + + + + + 353284 + Rubinstein-Taybi syndrome due to EP300 haploinsufficiency + + + Preferential parent + + + + + + 357001 + 19p13.13 microdeletion syndrome + + + Preferential parent + + + + + + 357158 + Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome + + + Preferential parent + + + + + + 357175 + Short ulna-dysmorphism-hypotonia-intellectual disability syndrome + + + Preferential parent + + + + + + 357332 + Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome + + + Preferential parent + + + + + + 357506 + Genetic non-syndromic renal or urinary tract malformation + + + Preferential parent + + + + + + 363189 + Congenital anomaly of the great veins + + + Preferential parent + + + + + + 363203 + Ring chromosome syndrome + + + Preferential parent + + + + + + 363245 + Genetic progeroid syndrome + + + Preferential parent + + + + + + 363294 + Genetic syndromic Pierre Robin syndrome + + + Preferential parent + + + + + + 363417 + Temtamy preaxial brachydactyly syndrome + + + Preferential parent + + + + + + 363444 + THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome + + + Preferential parent + + + + + + 363523 + Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome + + + Preferential parent + + + + + + 363611 + CTCF-related neurodevelopmental disorder + + + Preferential parent + + + + + + 363618 + LMNA-related cardiocutaneous progeria syndrome + + + Preferential parent + + + + + + 363659 + 20q11.2 microduplication syndrome + + + Preferential parent + + + + + + 363680 + 2p13.2 microdeletion syndrome + + + Preferential parent + + + + + + 363686 + Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome + + + Preferential parent + + + + + + 363700 + Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion + + + Preferential parent + + + + + + 363705 + Craniofaciofrontodigital syndrome + + + Preferential parent + + + + + + 363741 + Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome + + + Preferential parent + + + + + + 363958 + 17q21.31 microdeletion syndrome + + + Preferential parent + + + + + + 363965 + Koolen-De Vries syndrome due to a point mutation + + + Preferential parent + + + + + + 363972 + Noonan syndrome-like disorder with juvenile myelomonocytic leukemia + + + Preferential parent + + + + + + 363992 + Ichthyosis-short stature-brachydactyly-microspherophakia syndrome + + + Preferential parent + + + + + + 363999 + Non-immune hydrops fetalis + + + Preferential parent + + + + + + 364013 + Immune hydrops fetalis + + + Preferential parent + + + + + + 364028 + X-linked intellectual disability due to GRIA3 mutations + + + Preferential parent + + + + + + 364198 + Bipartite talus + + + Preferential parent + + + + + + 364559 + Dysostosis + + + Preferential parent + + + + + + 364568 + Dysostosis with limb anomaly as a major feature + + + Preferential parent + + + + + + 364571 + Dysostosis with limb and face anomalies as a major feature + + + Preferential parent + + + + + + 364574 + Acrofacial dysostosis + + + Preferential parent + + + + + + 364577 + Intellectual disability-brachydactyly-Pierre Robin syndrome + + + Preferential parent + + + + + + 369881 + 2p21 microdeletion syndrome without cystinuria + + + Preferential parent + + + + + + 369886 + Homozygous 2p21 microdeletion syndrome + + + Preferential parent + + + + + + 369891 + Developmental delay-facial dysmorphism syndrome due to MED13L deficiency + + + Preferential parent + + + + + + 369920 + Pontocerebellar hypoplasia type 9 + + + Preferential parent + + + + + + 369950 + Intellectual disability-seizures-macrocephaly-obesity syndrome + + + Preferential parent + + + + + + 369979 + Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome + + + Preferential parent + + + + + + 370010 + Intellectual disability-facial dysmorphism-hand anomalies syndrome + + + Preferential parent + + + + + + 370034 + Familial syringomyelia + + + Preferential parent + + + + + + 370068 + Fetal anticonvulsant syndrome + + + Preferential parent + + + + + + 370076 + Fetal carbamazepine syndrome + + + Preferential parent + + + + + + 370079 + Proximal 16p11.2 microduplication syndrome + + + Preferential parent + + + + + + 370930 + XYLT1-CDG + + + Preferential parent + + + + + + 371436 + Genetic neurovascular malformation + + + Preferential parent + + + + + + 371445 + Genetic syndromic esophageal malformation + + + Preferential parent + + + + + + 391307 + Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome + + + Preferential parent + + + + + + 391641 + Feingold syndrome type 1 + + + Preferential parent + + + + + + 391646 + Feingold syndrome type 2 + + + Preferential parent + + + + + + 391677 + Short stature-optic atrophy-Pelger-Huët anomaly syndrome + + + Preferential parent + + + + + + 397590 + Silver-Russell syndrome due to a point mutation + + + Preferential parent + + + + + + 397612 + Macrocephaly-developmental delay syndrome + + + Preferential parent + + + + + + 397709 + Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome + + + Preferential parent + + + + + + 397715 + Joubert syndrome with Jeune asphyxiating thoracic dystrophy + + + Preferential parent + + + + + + 397927 + Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome + + + Preferential parent + + + + + + 397973 + Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome + + + Preferential parent + + + + + + 398069 + Schaaf-Yang syndrome + + + Preferential parent + + + + + + 398073 + Prader-Willi-like syndrome + + + Preferential parent + + + + + + 398079 + SIM1-related Prader-Willi-like syndrome + + + Preferential parent + + + + + + 398156 + Oculoauriculofrontonasal syndrome + + + Preferential parent + + + + + + 399764 + Male infertility due to gonadal dysgenesis or sperm disorder + + + Preferential parent + + + + + + 399771 + Male infertility due to sperm disorder + + + Preferential parent + + + + + + 399775 + Male infertility with spermatogenesis disorder + + + Preferential parent + + + + + + 399786 + Male infertility with spermatogenesis disorder due to single gene mutation + + + Preferential parent + + + + + + 399813 + Male infertility due to sperm motility disorder + + + Preferential parent + + + + + + 399877 + Rare female infertility due to gonadal dysgenesis + + + Preferential parent + + + + + + 399882 + Rare female infertility due to an implantation defect + + + Preferential parent + + + + + + 400025 + Female infertility due to an implantation defect of genetic origin + + + Preferential parent + + + + + + 401942 + Familial median cleft of the upper and lower lips + + + Preferential parent + + + + + + 401986 + 1p31p32 microdeletion syndrome + + + Preferential parent + + + + + + 402075 + Familial bicuspid aortic valve + + + Preferential parent + + + + + + 404443 + Tatton-Brown-Rahman syndrome + + + Preferential parent + + + + + + 404451 + FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome + + + Preferential parent + + + + + + 404469 + Rare female infertility due to oocyte maturation defect + + + Preferential parent + + + + + + 404476 + Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome + + + Preferential parent + + + + + + 404568 + Dysostosis of genetic origin + + + Preferential parent + + + + + + 404571 + Dysostosis of genetic origin with limb anomaly as a major feature + + + Preferential parent + + + + + + 404574 + Genetic syndrome with limb reduction defects + + + Preferential parent + + + + + + 404577 + Genetic syndrome with limb malformations as a major feature + + + Preferential parent + + + + + + 404584 + Rare genetic bone development disorder + + + Preferential parent + + + + + + 411493 + Pontocerebellar hypoplasia type 10 + + + Preferential parent + + + + + + 411501 + Williams-Campbell syndrome + + + Preferential parent + + + + + + 411590 + Wolfram-like syndrome + + + Preferential parent + + + + + + 411709 + Renal agenesis + + + Preferential parent + + + + + + 412035 + 13q12.3 microdeletion syndrome + + + Preferential parent + + + + + + 414726 + Genetic facial cleft + + + Preferential parent + + + + + + 420179 + Malan overgrowth syndrome + + + Preferential parent + + + + + + 420561 + Temple-Baraitser syndrome + + + Preferential parent + + + + + + 420584 + Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome + + + Preferential parent + + + + + + 423306 + Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome + + + Preferential parent + + + + + + 423454 + Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome + + + Preferential parent + + + + + + 423655 + ARX-related encephalopathy-brain malformation spectrum + + + Preferential parent + + + + + + 423693 + Double outlet right ventricle with subaortic or doubly committed ventricular septal defect + + + Preferential parent + + + + + + 423712 + Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy + + + Preferential parent + + + + + + 431140 + X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome + + + Preferential parent + + + + + + 431341 + Patent urachus + + + Preferential parent + + + + + + 431344 + Urachal sinus + + + Preferential parent + + + + + + 431347 + Urachal diverticulum + + + Preferential parent + + + + + + 434179 + Orofaciodigital syndrome type 14 + + + Preferential parent + + + + + + 435365 + Fetal lower urinary tract obstruction + + + Preferential parent + + + + + + 435372 + Anterior urethral valve + + + Preferential parent + + + + + + 435603 + Genetic otorhinolaryngological malformation + + + Preferential parent + + + + + + 435606 + Genetic nose and cavum anomaly + + + Preferential parent + + + + + + 435609 + Genetic larynx anomaly + + + Preferential parent + + + + + + 435612 + Genetic tracheal anomaly + + + Preferential parent + + + + + + 435743 + Congenital urachal anomaly + + + Preferential parent + + + + + + 435930 + Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome + + + Preferential parent + + + + + + 435938 + X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome + + + Preferential parent + + + + + + 435953 + Progeroid features-hepatocellular carcinoma predisposition syndrome + + + Preferential parent + + + + + + 436003 + Contractures-developmental delay-Pierre Robin syndrome + + + Preferential parent + + + + + + 436141 + HIDEA syndrome + + + Preferential parent + + + + + + 436252 + Combined immunodeficiency-multiple intestinal atresia + + + Preferential parent + + + + + + 438134 + PCNA-related progressive neurodegenerative photosensitivity syndrome + + + Preferential parent + + + + + + 439822 + PDE4D haploinsufficiency syndrome + + + Preferential parent + + + + + + 439897 + Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome + + + Preferential parent + + + + + + 443087 + 46,XY difference of sex development due to testicular 17,20-desmolase deficiency + + + Preferential parent + + + + + + 443090 + 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect + + + Preferential parent + + + + + + 443988 + Ventriculomegaly-cystic kidney disease + + + Preferential parent + + + + + + 443995 + Mandibulofacial dysostosis with alopecia + + + Preferential parent + + + + + + 444002 + 11q22.2q22.3 microdeletion syndrome + + + Preferential parent + + + + + + 444048 + 46,XX ovarian dysgenesis-short stature syndrome + + + Preferential parent + + + + + + 444051 + 20q11.2 microdeletion syndrome + + + Preferential parent + + + + + + 444069 + Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome + + + Preferential parent + + + + + + 444072 + Cerebellar-facial-dental syndrome + + + Preferential parent + + + + + + 444077 + Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome + + + Preferential parent + + + + + + 444941 + Caudal regression-sirenomelia spectrum + + + Preferential parent + + + + + + 447961 + Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome + + + Preferential parent + + + + + + 447974 + Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome + + + Preferential parent + + + + + + 447980 + 19p13.3 microduplication syndrome + + + Preferential parent + + + + + + 447985 + Partial duplication of the short arm of chromosome 19 syndrome + + + Preferential parent + + + + + + 448251 + Progressive autosomal recessive ataxia-deafness syndrome + + + Preferential parent + + + + + + 451612 + Familial congenital nasolacrimal duct obstruction + + + Preferential parent + + + + + + 453499 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome + + + Preferential parent + + + + + + 453504 + Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation + + + Preferential parent + + + + + + 454750 + Isolated tracheoesophageal fistula + + + Preferential parent + + + + + + 456298 + 1p35.2 microdeletion syndrome + + + Preferential parent + + + + + + 456312 + Infantile multisystem neurologic-endocrine-pancreatic disease + + + Preferential parent + + + + + + 456328 + X-linked myotubular myopathy-abnormal genitalia syndrome + + + Preferential parent + + + + + + 457083 + Isolated splenogonadal fusion + + + Preferential parent + + + + + + 457193 + KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome + + + Preferential parent + + + + + + 457240 + X-linked intellectual disability-short stature-overweight syndrome + + + Preferential parent + + + + + + 457279 + Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome + + + Preferential parent + + + + + + 457284 + Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome + + + Preferential parent + + + + + + 457351 + Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome + + + Preferential parent + + + + + + 457359 + Megalencephaly-severe kyphoscoliosis-overgrowth syndrome + + + Preferential parent + + + + + + 457365 + Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome + + + Preferential parent + + + + + + 457485 + Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome + + + Preferential parent + + + + + + 458775 + Congenital hemangioma + + + Preferential parent + + + + + + 458785 + Partially involuting congenital hemangioma + + + Preferential parent + + + + + + 458792 + Mixed cystic lymphatic malformation + + + Preferential parent + + + + + + 458830 + Rare capillary malformation with associated anomalies + + + Preferential parent + + + + + + 458833 + Common cystic lymphatic malformation + + + Preferential parent + + + + + + 458844 + Rare vascular malformation of major vessels + + + Preferential parent + + + + + + 459061 + Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome + + + Preferential parent + + + + + + 459074 + Corpus callosum agenesis-macrocephaly-hypertelorism syndrome + + + Preferential parent + + + + + + 459526 + Rare genetic capillary malformation + + + Preferential parent + + + + + + 459537 + Genetic complex vascular malformation with associated anomalies + + + Preferential parent + + + + + + 459548 + Rare genetic venous malformation + + + Preferential parent + + + + + + 459787 + Lethal multiple congenital anomalies/dysmorphic syndrome + + + Preferential parent + + + + + + 464282 + Spastic paraplegia-severe developmental delay-epilepsy syndrome + + + Preferential parent + + + + + + 464288 + Short stature-brachydactyly-obesity-global developmental delay syndrome + + + Preferential parent + + + + + + 464306 + DYRK1A-related intellectual disability syndrome + + + Preferential parent + + + + + + 464311 + Intellectual disability syndrome due to a DYRK1A point mutation + + + Preferential parent + + + + + + 464321 + Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome + + + Preferential parent + + + + + + 464738 + Basel-Vanagaite-Smirin-Yosef syndrome + + + Preferential parent + + + + + + 465824 + Fetal encasement syndrome + + + Preferential parent + + + + + + 466688 + Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome + + + Preferential parent + + + + + + 466695 + Supratip dysplasia + + + Preferential parent + + + + + + 466729 + Familial patent arterial duct + + + Preferential parent + + + + + + 466784 + Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect + + + Preferential parent + + + + + + 466791 + Macrocephaly-intellectual disability-left ventricular non compaction syndrome + + + Preferential parent + + + + + + 466943 + WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome + + + Preferential parent + + + + + + 466950 + Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation + + + Preferential parent + + + + + + 467166 + Tubulinopathy-associated dysgyria + + + Preferential parent + + + + + + 468678 + White-Sutton syndrome + + + Preferential parent + + + + + + 471383 + Genetic lethal multiple congenital anomalies/dysmorphic syndrome + + + Preferential parent + + + + + + 474347 + Rare congenital anomaly of ventricular septum + + + Preferential parent + + + + + + 476119 + Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome + + + Preferential parent + + + + + + 476126 + Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome + + + Preferential parent + + + + + + 477805 + Genetic cardiac malformation + + + Preferential parent + + + + + + 477814 + Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome + + + Preferential parent + + + + + + 477817 + PMP22-RAI1 contiguous gene duplication syndrome + + + Preferential parent + + + + + + 477993 + Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome + + + Preferential parent + + + + + + 480524 + Idiopathic peliosis hepatis + + + Preferential parent + + + + + + 480528 + Lethal hydranencephaly-diaphragmatic hernia syndrome + + + Preferential parent + + + + + + 480531 + Congenital portosystemic shunt + + + Preferential parent + + + + + + 480880 + X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability + + + Preferential parent + + + + + + 480898 + Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome + + + Preferential parent + + + + + + 480907 + X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome + + + Preferential parent + + + + + + 481152 + PYCR2-related microcephaly-progressive leukoencephalopathy + + + Preferential parent + + + + + + 481986 + Familial schizencephaly + + + Preferential parent + + + + + + 482606 + X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome + + + Preferential parent + + + + + + 485275 + Acquired schizencephaly + + + Preferential parent + + + + + + 485358 + Propylthiouracil embryofetopathy + + + Preferential parent + + + + + + 485405 + 16p12.1p12.3 triplication syndrome + + + Preferential parent + + + + + + 486811 + Prenatal-onset spinal muscular atrophy with congenital bone fractures + + + Preferential parent + + + + + + 487825 + Pierpont syndrome + + + Preferential parent + + + + + + 488232 + Split-foot malformation-mesoaxial polydactyly syndrome + + + Preferential parent + + + + + + 488434 + Camptodactyly syndrome, Guadalajara type 3 + + + Preferential parent + + + + + + 488437 + SIX2-related frontonasal dysplasia + + + Preferential parent + + + + + + 488586 + Congenital amyoplasia + + + Preferential parent + + + + + + 488627 + Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome + + + Preferential parent + + + + + + 488632 + TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome + + + Preferential parent + + + + + + 488642 + TELO2-related intellectual disability-neurodevelopmental disorder + + + Preferential parent + + + + + + 494344 + RERE-related neurodevelopmental syndrome + + + Preferential parent + + + + + + 494421 + Sacrococcygeal teratoma + + + Preferential parent + + + + + + 494424 + Extracranial carotid artery aneurysm + + + Preferential parent + + + + + + 494439 + Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome + + + Preferential parent + + + + + + 495818 + 9q33.3q34.11 microdeletion syndrome + + + Preferential parent + + + + + + 495875 + Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome + + + Preferential parent + + + + + + 495879 + Congenital agenesis of the scrotum + + + Preferential parent + + + + + + 496641 + Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome + + + Preferential parent + + + + + + 496693 + Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome + + + Preferential parent + + + + + + 496751 + EVEN-plus syndrome + + + Preferential parent + + + + + + 498448 + Overgrowth or tall stature syndrome with skeletal involvement + + + Preferential parent + + + + + + 498451 + Dysostosis with brachydactyly without extraskeletal manifestations + + + Preferential parent + + + + + + 498454 + Dysostosis with brachydactyly with extraskeletal manifestations + + + Preferential parent + + + + + + 498457 + Non-syndromic longitudinal limb defect + + + Preferential parent + + + + + + 498461 + Non-syndromic terminal transverse limb defect + + + Preferential parent + + + + + + 498464 + Non-syndromic preaxial polydactyly + + + Preferential parent + + + + + + 498467 + Non-syndromic postaxial polydactyly + + + Preferential parent + + + + + + 498470 + Non-syndromic complex polydactyly + + + Preferential parent + + + + + + 498477 + Ectrodactyly with and without other manifestations + + + Preferential parent + + + + + + 498491 + Non-syndromic complete hemimelia + + + Preferential parent + + + + + + 498494 + Mirror-image polydactyly + + + Preferential parent + + + + + + 498602 + Sugarman brachydactyly + + + Preferential parent + + + + + + 498693 + MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome + + + Preferential parent + + + + + + 499009 + Congenital syphilis + + + Preferential parent + + + + + + 500055 + Hao-Fountain syndrome due to 16p13.2 microdeletion + + + Preferential parent + + + + + + 500095 + Tall stature-intellectual disability-renal anomalies syndrome + + + Preferential parent + + + + + + 500135 + Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome + + + Preferential parent + + + + + + 500144 + Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome + + + Preferential parent + + + + + + 500150 + ZTTK syndrome + + + Preferential parent + + + + + + 500159 + Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom + + + Preferential parent + + + + + + 500163 + Witteveen-Kolk syndrome + + + Preferential parent + + + + + + 500166 + SIN3-related intellectual disability syndrome due to a point mutation + + + Preferential parent + + + + + + 502423 + Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome + + + Preferential parent + + + + + + 502430 + Weiss-Kruszka Syndrome + + + Preferential parent + + + + + + 502434 + STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome + + + Preferential parent + + + + + + 502437 + 4q25 proximal deletion syndrome + + + Preferential parent + + + + + + 505237 + Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome + + + Preferential parent + + + + + + 505248 + Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders + + + Preferential parent + + + + + + 506307 + Stromme syndrome + + + Preferential parent + + + + + + 506358 + Gabriele-de Vries syndrome + + + Preferential parent + + + + + + 508410 + Familial intestinal malrotation + + + Preferential parent + + + + + + 508476 + Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome + + + Preferential parent + + + + + + 508488 + 8q24.3 microdeletion syndrome + + + Preferential parent + + + + + + 508498 + Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome + + + Preferential parent + + + + + + 508501 + Orofaciodigital syndrome type 18 + + + Preferential parent + + + + + + 508542 + Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome + + + Preferential parent + + + + + + 513456 + Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome + + + Preferential parent + + + + + + 514352 + Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome + + + Preferential parent + + + + + + 519272 + Structural developmental eye defect + + + Preferential parent + + + + + + 519274 + Syndromic lacrimal system disorder + + + Preferential parent + + + + + + 519276 + Anterior segment developmental anomaly with extraocular manifestations + + + Preferential parent + + + + + + 519292 + Syndromic ectopia lentis + + + Preferential parent + + + + + + 519294 + Syndromic microspherophakia + + + Preferential parent + + + + + + 519333 + Congenital optic disc excavation + + + Preferential parent + + + + + + 521258 + Xq25 microduplication syndrome + + + Preferential parent + + + + + + 521308 + Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome + + + Preferential parent + + + + + + 521426 + PLAA-associated neurodevelopmental disorder + + + Preferential parent + + + + + + 521438 + Congenital vertebral-cardiac-renal anomalies syndrome + + + Preferential parent + + + + + + 521445 + Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome + + + Preferential parent + + + + + + 522526 + Rare genetic palpebral disorder + + + Preferential parent + + + + + + 522534 + Lacrimal drainage system anomaly of genetic origin + + + Preferential parent + + + + + + 522536 + Structural developmental eye defect of genetic origin + + + Preferential parent + + + + + + 522540 + Anterior segment developmental anomaly of genetic origin + + + Preferential parent + + + + + + 522550 + Lens size anomaly of genetic origin + + + Preferential parent + + + + + + 525677 + Genetic congenital malformation of the eye with glaucoma as a major feature + + + Preferential parent + + + + + + 527468 + Diaphragmatic hernia-short bowel-asplenia syndrome + + + Preferential parent + + + + + + 529665 + Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome + + + Preferential parent + + + + + + 529962 + 17q24.2 microdeletion syndrome + + + Preferential parent + + + + + + 529965 + Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome + + + Preferential parent + + + + + + 530033 + Dermoid or epidermoid cyst of the central nervous system + + + Preferential parent + + + + + + 530313 + PIK3CA-related overgrowth syndrome + + + Preferential parent + + + + + + 530983 + Lamb-Shaffer syndrome + + + Preferential parent + + + + + + 536391 + RASopathy + + + Preferential parent + + + + + + 538574 + Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome + + + Preferential parent + + + + + + 541443 + Anomalous aortic origin of the left coronary artery + + + Preferential parent + + + + + + 541454 + Anomalous aortic origin of the right coronary artery + + + Preferential parent + + + + + + 541478 + Anomalous aortic origin of coronary artery + + + Preferential parent + + + + + + 541507 + Anomalous origin of coronary artery from the pulmonary artery + + + Preferential parent + + + + + + 542568 + Quadricuspid aortic valve + + + Preferential parent + + + + + + 542822 + Anomaly of the coronary ostia + + + Preferential parent + + + + + + 544503 + RNF13-related severe early-onset epileptic encephalopathy + + + Preferential parent + + + + + + 555874 + Congenital tricuspid valve dysplasia + + + Preferential parent + + + + + + 555877 + FLNA-related X-linked myxomatous valvular dysplasia + + + Preferential parent + + + + + + 556955 + Pancreatic agenesis-holoprosencephaly syndrome + + + Preferential parent + + + + + + 557866 + Rare disorder with Hirschsprung disease as a major feature + + + Preferential parent + + + + + + 562528 + Congenital limbs-face contractures-hypotonia-developmental delay syndrome + + + Preferential parent + + + + + + 562569 + TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome + + + Preferential parent + + + + + + 563609 + Isolated anencephaly + + + Preferential parent + + + + + + 563612 + Isolated exencephaly + + + Preferential parent + + + + + + 563951 + Isolated congenital aglossia + + + Preferential parent + + + + + + 563954 + Isolated congenital hypoglossia + + + Preferential parent + + + + + + 565858 + Craniosynostosis-microretrognathia-severe intellectual disability syndrome + + + Preferential parent + + + + + + 566847 + Aprosencephaly/atelencephaly spectrum + + + Preferential parent + + + + + + 566852 + Atelencephaly + + + Preferential parent + + + + + + 566857 + Aprosencephaly + + + Preferential parent + + + + + + 566862 + Left isomerism + + + Preferential parent + + + + + + 567502 + B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome + + + Preferential parent + + + + + + 568041 + Primary lymphedema without systemic or visceral involvement + + + Preferential parent + + + + + + 568044 + Primary lymphedema with systemic or visceral involvement + + + Preferential parent + + + + + + 568047 + Disorder with multisystemic involvement and primary lymphedema + + + Preferential parent + + + + + + 568051 + GJC2-related late-onset primary lymphedema + + + Preferential parent + + + + + + 568056 + Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome + + + Preferential parent + + + + + + 568062 + PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis + + + Preferential parent + + + + + + 568065 + EPHB4-related lymphatic-related hydrops fetalis + + + Preferential parent + + + + + + 569816 + CELSR1-related late-onset primary lymphedema + + + Preferential parent + + + + + + 569821 + Congenital primary lymphedema of Gordon + + + Preferential parent + + + + + + 572013 + Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome + + + Preferential parent + + + + + + 572333 + Blepharophimosis-ptosis-epicanthus inversus syndrome plus + + + Preferential parent + + + + + + 572354 + Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 + + + Preferential parent + + + + + + 572361 + Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 + + + Preferential parent + + + + + + 572385 + Brachydactyly type B1 + + + Preferential parent + + + + + + 572761 + DONSON-related microcephaly-short stature-limb abnormalities spectrum + + + Preferential parent + + + + + + 572768 + Microcephaly-micromelia syndrome + + + Preferential parent + + + + + + 572773 + Microcephaly-short stature-limb abnormalities syndrome + + + Preferential parent + + + + + + 573253 + Split cord malformation type II + + + Preferential parent + + + + + + 573278 + Split cord malformation + + + Preferential parent + + + + + + 576227 + Complete atrioventricular septal defect without ventricular hypoplasia + + + Preferential parent + + + + + + 576232 + Partial atrioventricular septal defect with ventricular hypoplasia + + + Preferential parent + + + + + + 576235 + Partial atrioventricular septal defect without ventricular hypoplasia + + + Preferential parent + + + + + + 576242 + Intermediate atrioventricular septal defect + + + Preferential parent + + + + + + 576278 + SATB2-associated syndrome + + + Preferential parent + + + + + + 576283 + SATB2-associated syndrome due to a pathogenic variant + + + Preferential parent + + + + + + 580933 + Lethal brain and heart developmental defects + + + Preferential parent + + + + + + 580940 + QRICH1-related intellectual disability-chondrodysplasia syndrome + + + Preferential parent + + + + + + 583097 + Congenital infiltrating lipomatosis of the face + + + Preferential parent + + + + + + 589442 + Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome + + + Preferential parent + + + + + + 589608 + Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies + + + Preferential parent + + + + + + 589856 + Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome + + + Preferential parent + + + + + + 592570 + TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome + + + Preferential parent + + + + + + 592574 + Menke-Hennekam syndrome + + + Preferential parent + + + + + + 596008 + Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis + + + Preferential parent + + + + + + 597738 + Luscan-Lumish syndrome + + + Preferential parent + + + + + + 597743 + SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome + + + Preferential parent + + + + + + 597746 + Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome + + + Preferential parent + + + + + + 597749 + KAT6B-related multiple congenital anomalies syndrome + + + Preferential parent + + + + + + 598603 + Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome + + + Preferential parent + + + + + + 599082 + CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome + + + Preferential parent + + + + + + 600668 + CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome + + + Preferential parent + + + + + + 600731 + Clark-Baraitser syndrome + + + Preferential parent + + + + + + 600952 + Non-syndromic perineal fistula + + + Preferential parent + + + + + + 600961 + Non-syndromic rectourethral fistula + + + Preferential parent + + + + + + 600966 + Non-syndromic rectourethral fistula, bulbar type + + + Preferential parent + + + + + + 600975 + Non-syndromic rectourethral fistula, prostatic type + + + Preferential parent + + + + + + 600984 + Non-syndromic rectovesical fistula + + + Preferential parent + + + + + + 600993 + Non-syndromic vestibular fistula + + + Preferential parent + + + + + + 600998 + Non-syndromic cloacal malformation + + + Preferential parent + + + + + + 601002 + Non-syndromic anorectal malformation without fistula + + + Preferential parent + + + + + + 601008 + Non-syndromic anal stenosis + + + Preferential parent + + + + + + 601013 + Non-syndromic pouch colon + + + Preferential parent + + + + + + 601018 + Non-syndromic rectal atresia + + + Preferential parent + + + + + + 601023 + Non-syndromic rectal stenosis + + + Preferential parent + + + + + + 601028 + Non-syndromic rectovaginal fistula + + + Preferential parent + + + + + + 601033 + Non-syndromic H-type fistula + + + Preferential parent + + + + + + 603448 + Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome + + + Preferential parent + + + + + + 603494 + Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome + + + Preferential parent + + + + + + 603515 + Isolated female hypospadias + + + Preferential parent + + + + + + 603684 + KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome + + + Preferential parent + + + + + + 603689 + KLHL7-related Bohring-Opitz-like syndrome + + + Preferential parent + + + + + + 610569 + KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome + + + Preferential parent + + + + + + 611201 + Oculogastrointestinal-neurodevelopmental syndrome + + + Preferential parent + + + + + + 611247 + Pontocerebellar hypoplasia type 11 + + + Preferential parent + + + + + + 611256 + Pontocerebellar hypoplasia type 12 + + + Preferential parent + + + + + + 611327 + Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability + + + Preferential parent + + + + + + 613267 + Pontocerebellar hypoplasia type 13 + + + Preferential parent + + + + + + 613274 + Pontocerebellar hypoplasia type 14 + + + Preferential parent + + + + + + 615954 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome + + + Preferential parent + + + + + + 615983 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation + + + Preferential parent + + + + + + 615986 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster + + + Preferential parent + + + + + + 619233 + Hereditary persistence of fetal hemoglobin-intellectual disability syndrome + + + Preferential parent + + + + + + 620096 + Non-syndromic unisutural craniosynostosis + + + Preferential parent + + + + + + 620102 + Non-syndromic unicoronal craniosynostosis + + + Preferential parent + + + + + + 620113 + Non-syndromic unilambdoid craniosynostosis + + + Preferential parent + + + + + + 620139 + Non-syndromic unifrontosphenoidal craniosynostosis + + + Preferential parent + + + + + + 620146 + Non-syndromic unisquamosal craniosynostosis + + + Preferential parent + + + + + + 620152 + Non-syndromic multisutural craniosynostosis + + + Preferential parent + + + + + + 620158 + Non-syndromic non-specific multisutural craniosynostosis + + + Preferential parent + + + + + + 620178 + Non-syndromic bilambdoid craniosynostosis + + + Preferential parent + + + + + + 620186 + Non-syndromic unicoronal and sagittal craniosynostosis + + + Preferential parent + + + + + + 620192 + Non-syndromic metopic and sagittal craniosynostosis + + + Preferential parent + + + + + + 620198 + Non-syndromic bicoronal and metopic craniosynostosis + + + Preferential parent + + + + + + 620205 + Non-syndromic bicoronal and sagittal craniosynostosis + + + Preferential parent + + + + + + 620212 + Non-syndromic pansynostosis + + + Preferential parent + + + + + + 622925 + X-linked severe syndromic thoracic aortic aneurysm and dissection + + + Preferential parent + + + + + + 632603 + Mesomelic dysplasia-digital anomalies-intellectual disability syndrome + + + Preferential parent + + + + + + 633004 + KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome + + + Preferential parent + + + + + + 633028 + CPE-related Prader-Willi-like syndrome + + + Preferential parent + + + + + + 633035 + Intellectual disability-early-onset cataract-microcephaly syndrome + + + Preferential parent + + + + + + 633076 + Split cord malformation, composite type + + + Preferential parent + + + + + + 633099 + PAICS deficiency + + + Preferential parent + + + + + + 633211 + Preaxial digit brachydactyly-webbed fingers + + + Preferential parent + + + + + + 633228 + Isolated proximal femoral focal deficiency + + + Preferential parent + + + + + + 637013 + SMARCA2-related blepharophimosis-intellectual disability syndrome + + + Preferential parent + + + + + + 637061 + Isolated optic nerve hypoplasia + + + Preferential parent + + + + + + 637064 + Isolated optic nerve aplasia + + + Preferential parent + + + + + + 642071 + Primary pulmonary vein stenosis + + + Preferential parent + + + + + + 642675 + CHD8 overgrowth syndrome + + + Preferential parent + + + + + + 642763 + Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation + + + Preferential parent + + + + + + 642945 + Perrault syndrome type 1 + + + Preferential parent + + + + + + 642976 + Perrault syndrome type 2 + + + Preferential parent + + + + + + 643503 + Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome + + + Preferential parent + + + + + + 643538 + Hao-Fountain syndrome due to USP7 mutation + + + Preferential parent + + + + + + 643549 + Hao-Fountain syndrome + + + Preferential parent + + + + + + 645188 + Spinal dermal sinus + + + Preferential parent + + + + + + 645193 + Dysraphism with stalk + + + Preferential parent + + + + + + 645196 + Limited dorsal myeloschisis + + + Preferential parent + + + + + + 645202 + Closed spinal dysraphism + + + Preferential parent + + + + + + 645270 + Open spinal dysraphism with a posterior meningocele + + + Preferential parent + + + + + + 645273 + Dysraphic spinal cord lipoma + + + Preferential parent + + + + + + 645276 + Spinal cord lipoma + + + Preferential parent + + + + + + 645279 + Fibrolipomatous filum anomaly + + + Preferential parent + + + + + + 645282 + Anomaly of the filum + + + Preferential parent + + + + + + 645285 + Chaotic conus spinal cord lipoma + + + Preferential parent + + + + + + 645288 + Terminal extramedullary conus spinal cord lipoma + + + Preferential parent + + + + + + 645291 + Transitional extramedullary conus spinal cord lipoma + + + Preferential parent + + + + + + 645294 + Posterior extramedullary conus spinal cord lipoma + + + Preferential parent + + + + + + 645297 + Extramedullary conus spinal cord lipoma + + + Preferential parent + + + + + + 645300 + Lipomatous non-saccular limited dorsal myeloschisis + + + Preferential parent + + + + + + 645310 + Fibroneural non-saccular limited dorsal myeloschisis + + + Preferential parent + + + + + + 645319 + Saccular spinal dysraphism with a stalk to the dome + + + Preferential parent + + + + + + 645322 + Isolated transitional filum lipoma + + + Preferential parent + + + + + + 645325 + Isolated filum lipoma + + + Preferential parent + + + + + + 645334 + Retained medullary cord + + + Preferential parent + + + + + + 645337 + Terminal myelocystocele + + + Preferential parent + + + + + + 645340 + Non-terminal myelocystocele + + + Preferential parent + + + + + + 645343 + Non-saccular limited dorsal myeloschisis + + + Preferential parent + + + + + + 645354 + Saccular limited dorsal myeloschisis + + + Preferential parent + + + + + + 645359 + Intramedullary non-dysraphic spinal cord lipoma + + + Preferential parent + + + + + + 645362 + Dorsal spinal cord lipoma + + + Preferential parent + + + + + + 645367 + Conus spinal cord lipoma + + + Preferential parent + + + + + + 645378 + Myelic limited dorsal malformation + + + Preferential parent + + + + + + 645383 + True myelomeningocele + + + Preferential parent + + + + + + 645388 + Hemi-myelomeningocele + + + Preferential parent + + + + + + 645393 + Hemi-myeloschisis + + + Preferential parent + + + + + + 645398 + Myeloschisis + + + Preferential parent + + + + + + 645401 + True myeloschisis + + + Preferential parent + + + + + + 645749 + Congenital esophageal stenosis + + + Preferential parent + + + + + + 646278 + CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome + + + Preferential parent + + + + + + 647681 + Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome + + + Preferential parent + + + + + + 647794 + Isolated persistent urogenital sinus + + + Preferential parent + + + + + + 647811 + Cardiac-urogenital syndrome + + + Preferential parent + + + + + + 647916 + Conjoined twins + + + Preferential parent + + + + + + 648992 + Non-syndromic bridging bronchus + + + Preferential parent + + + + + + 649010 + Non-syndromic congenital bronchial atresia + + + Preferential parent + + + + + + 649014 + Bronchial malformation + + + Preferential parent + + + + + + 649029 + Isolated left bronchial isomerism + + + Preferential parent + + + + + + 652487 + Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome + + + Preferential parent + + + + + + 652514 + Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation + + + Preferential parent + + + + + + 652519 + Cleft palate-congenital heart defect-intellectual disability syndrome + + + Preferential parent + + + + + + 652528 + Supernumerary kidney + + + Preferential parent + + + + + + 652668 + Primary superior vena cava aneurysm + + + Preferential parent + + + + + + 652678 + Primary inferior vena cava aneurysm + + + Preferential parent + + + + + + 653712 + CHD4-related neurodevelopmental disorder + + + Preferential parent + + + + + + 653767 + Jansen-de Vries syndrome + + + Preferential parent + + + + + + 656126 + Segmental spinal dysgenesis + + + Preferential parent + + + + + + 656130 + PBX1-related congenital anomalies of kidney-urinary tract syndrome + + + Preferential parent + + + + + + 656135 + Intellectual disability-cupped ears syndrome + + + Preferential parent + + + + + + 658540 + 16q22 deletion syndrome + + + Preferential parent + + + + + + 658574 + Isolated pulmonary artery sling + + + Preferential parent + + + + + + 658595 + DNMT3A-related microcephalic dwarfism + + + Preferential parent + + + + + + 658805 + Greig cephalopolysyndactyly-contiguous gene syndrome + + + Preferential parent + + + + + + 658843 + Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome + + + Preferential parent + + + + + + 659387 + PRC-2 complex-related overgrowth spectrum + + + Preferential parent + + + + + + 659396 + Cohen-Gibson syndrome + + + Preferential parent + + + + + + 659463 + Imagawa-Matsumoto syndrome + + + Preferential parent + + + + + + 659609 + Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome + + + Preferential parent + + + + + + 659642 + Rauch-Steindl syndrome + + + Preferential parent + + + + + + 659702 + Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome + + + Preferential parent + + + + + + 659873 + Wormian bones-micrognathia-abnormal dentition-progeroid syndrome + + + Preferential parent + + + + + + 659904 + Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome + + + Preferential parent + + + + + + 659975 + Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome + + + Preferential parent + + + + + + 660021 + Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome + + + Preferential parent + + + + + + 662169 + Phelan-McDermid syndrome due to 22q13.3 deletion + + + Preferential parent + + + + + + 662172 + Phelan-McDermid syndrome due to SHANK3 mutation + + + Preferential parent + + + + + + 662175 + Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome + + + Preferential parent + + + + + + 662179 + Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome + + + Preferential parent + + + + + + 662189 + Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome + + + Preferential parent + + + + + + 662198 + Neurodevelopmental delay-intellectual disability-skeletal defects syndrome + + + Preferential parent + + + + + + 662207 + Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome + + + Preferential parent + + + + + + 662234 + Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome + + + Preferential parent + + + + + + 662376 + Isolated gastric duplication + + + Preferential parent + + + + + + 662388 + Isolated gallbladder duplication + + + Preferential parent + + + + + + 662392 + Isolated colonic duplication + + + Preferential parent + + + + + + 662405 + Isolated pyloric duplication + + + Preferential parent + + + + + + 662456 + Isolated small intestine duplication + + + Preferential parent + + + + + + 662473 + Isolated duodenal duplication + + + Preferential parent + + + + + + 662480 + Isolated jejuno-ileal duplication + + + Preferential parent + + + + + + 662762 + Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome + + + Preferential parent + + + + + + 662829 + Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome + + + Preferential parent + + + + + + 664372 + Soft and hard cleft palate + + + Preferential parent + + + + + + 664401 + Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation + + + Preferential parent + + + + + + 664404 + 6q25.1 microdeletion syndrome + + + Preferential parent + + + + + + 664410 + Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome + + + Preferential parent + + + + + + 664416 + Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation + + + Preferential parent + + + + + + 664430 + Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome + + + Preferential parent + + + + + + 664438 + Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome + + + Preferential parent + + + + + + 664923 + Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome + + + Preferential parent + + + + + + 665044 + Common arterial trunk with aortic dominance + + + Preferential parent + + + + + + 665058 + Common arterial trunk with pulmonary dominance and interrupted aortic arch + + + Preferential parent + + + + + + 667589 + Isolated congenital femoral bifurcation + + + Preferential parent + + + + + + 672979 + Craniosynostosis-facial dysmorphism-brachydactyly syndrome + + + Preferential parent + + + + + + 672985 + Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome + + + Preferential parent + + + + + + 675380 + Isolated segmental infantile hemangioma + + + Preferential parent + + + + + + 675782 + Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN + + + Preferential parent + + + + + + 684216 + Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome + + + Preferential parent + + + + + + 684226 + Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome + + + Preferential parent + + + + + + 684232 + Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome + + + Preferential parent + + + + + + 684305 + Neurooculocardiogenitourinary syndrome + + + Preferential parent + + + + + + 684742 + 2q13 microdeletion syndrome + + + Preferential parent + + + + + + 684752 + Isolated anal canal duplication + + + Preferential parent + + + + + + 684757 + Malformation of the anal canal and the rectum + + + Preferential parent + + + + + + 685017 + Combined immunodeficiency due to TBX1 deficiency + + + Preferential parent + + + + + + 685067 + Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome + + + Preferential parent + + + + + + 686482 + BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome + + + Preferential parent + + + + + + 686488 + RNU4-2-related autosomal dominant neurodevelopmental disorder + + + Preferential parent + + + + + + 686495 + MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome + + + Preferential parent + + + + + + 686556 + Isolated congenital cholesteatoma of the middle ear + + + Preferential parent + + + + + + 687424 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion + + + Preferential parent + + + + + + 687695 + 10p13-p14 deletion syndrome + + + Preferential parent + + + + + + 688523 + Splenic venous malformation + + + Preferential parent + + + + + + 688581 + Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome + + + Preferential parent + + + + + + 688642 + Turnpenny-Fry syndrome + + + Preferential parent + + + + + + 689397 + Poirier-Bienvenu neurodevelopmental syndrome + + + Preferential parent + + + + + + 689408 + Shashi-Pena syndrome + + + Preferential parent + + + + + + 689422 + Okur-Chung neurodevelopmental syndrome + + + Preferential parent + + + + + + 689822 + Structural heart defects-renal anomalies syndrome + + + Preferential parent + + + + + + 689829 + Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome + + + Preferential parent + + + + + + 692193 + CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome + + + Preferential parent + + + + + + 692271 + Cerebral proliferative angiopathy + + + Preferential parent + + + + + + 693549 + Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome + + + Preferential parent + + + + + + 693815 + Uterine arteriovenous malformation + + + Preferential parent + + + + + + 693826 + Pancreatic arteriovenous malformation + + + Preferential parent + + + + + + 693832 + Gastrointestinal tract arteriovenous malformation + + + Preferential parent + + + + + + 693839 + Renal arteriovenous malformation + + + Preferential parent + + + + + + 693846 + Hepatic arteriovenous malformation + + + Preferential parent + + + + + + 693855 + Visceral arteriovenous malformation + + + Preferential parent + + + + + + 693863 + Splenic arteriovenous malformation + + + Preferential parent + + + + + + 693869 + Gallblader arteriovenous malformation + + + Preferential parent + + + + + + 693872 + Urinary tract arteriovenous malformation + + + Preferential parent + + + + + + 693907 + RASA1-related capillary malformation-arteriovenous malformation + + + Preferential parent + + + + + + 693912 + EPHB4-related capillary malformation-arteriovenous malformation + + + Preferential parent + + + + + + 694228 + Congenital intrahepatic arterioportal fistula + + + Preferential parent + + + + + + 694304 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome + + + Preferential parent + + + + + + 694308 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation + + + Preferential parent + + + + + + 694937 + Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency + + + Preferential parent + + + + + + 694946 + Alazami-Yuan syndrome + + + Preferential parent + + + + + + 694956 + Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome + + + Preferential parent + + + + + + 695032 + Giant omphalocele + + + Preferential parent + + + + + + 695038 + Small omphalocele + + + Preferential parent + + + + + + 695611 + 3q26q28 deletion syndrome + + + Preferential parent + + + + + + 696897 + Congenital megaprepuce + + + Preferential parent + + + + + + 697067 + Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome + + + Preferential parent + + + + + + 697101 + Fontaine progeroid syndrome + + + Preferential parent + + + + + + 697356 + Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome + + + Preferential parent + + + + + + 697760 + Intellectual disability-nasal speech-craniofacial dysmorphism syndrome + + + Preferential parent + + + + + + 697764 + Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation + + + Preferential parent + + + + + + 697986 + Congenital peritoneal encapsulation + + + Preferential parent + + + + + + 698085 + Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome + + + Preferential parent + + + + + + 698090 + Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome + + + Preferential parent + + + + + + 698260 + Carotid web + + + Preferential parent + + + + + + 699683 + Fibro-adipose vascular anomaly + + + Preferential parent + + + + + + 699835 + Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome + + + Preferential parent + + + + + + 699844 + Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome + + + Preferential parent + + + + + + 700160 + ADNP-related blepharophimosis-intellectual disability syndrome + + + Preferential parent + + + + + + 700286 + Congenital high airway obstruction syndrome + + + Preferential parent + + + + + + 700325 + NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome + + + Preferential parent + + + + + + 707944 + Peripheral fast-flow vascular malformation + + + Preferential parent + + + + + + 708046 + Peripheral arteriovenous malformation + + + Preferential parent + + + + + + 714702 + Abdominal arteriovenous malformation + + + Preferential parent + + + + + + 714709 + Mediastinal arteriovenous malformation + + + Preferential parent + + + + + + 714715 + Pelvic arteriovenous malformation + + + Preferential parent + + + + + + 714726 + Retroperitoneal arteriovenous malformation + + + Preferential parent + + + + + + 714737 + Diffuse capillary malformation with overgrowth + + + Preferential parent + + + + + + 714785 + Unifocal sporadic venous malformation + + + Preferential parent + + + + + + 714806 + Multifocal sporadic venous malformation + + + Preferential parent + + + + + + 715284 + Spinal cord arteriovenous malformation + + + Preferential parent + + + + + + 715326 + Spinal epidural arteriovenous malformation + + + Preferential parent + + + + + + 715331 + Paraspinal arteriovenous malformation + + + Preferential parent + + + + + + 715339 + Multifocal peripheral venous malformation + + + Preferential parent + + + + + + 715345 + Isolated geographic pattern capillary malformation + + + Preferential parent + + + + + + 715353 + Isolated reticulated capillary malformation + + + Preferential parent + + + + + + 715446 + Geographic pattern capillary malformation + + + Preferential parent + + + + + + 715460 + Syndromic geographic pattern capillary malformation + + + Preferential parent + + + + + + 715923 + Intraosseous venous malformation + + + Preferential parent + + + + + + 717564 + Dural sinus malformation without arteriovenous shunt + + + Preferential parent + + + + + + 93591 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591 + Infantile nephronophthisis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93592 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592 + Juvenile nephronophthisis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93587 + Genetic cystic renal disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589 + Late-onset nephronophthisis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 596426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596426 + Syndrome of reduced sensitivity to thyroid hormone + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 93598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 + Primary hyperoxaluria type 1 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93593 + Nephropathy secondary to a storage or other metabolic disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 596008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 + Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 93583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 + Congenital thrombotic thrombocytopenic purpura + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585 + Immune-mediated thrombotic thrombocytopenic purpura + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 93581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581 + Atypical hemolytic uremic syndrome with anti-factor H antibodies + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 + Distal renal tubular acidosis with anemia + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 596759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 + Combined immunodeficiency due to RELA haploinsufficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 93608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608 + Autosomal dominant distal renal tubular acidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 + Autosomal recessive proximal renal tubular acidosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93614 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93614 + Hematological disorder with renal involvement + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 + Cystinuria type B + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 596937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596937 + Portosinusoidal vascular disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 93612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 + Cystinuria type A + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 596941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596941 + Incomplete septal cirrhosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 93602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 + Xanthinuria type II + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 + Xanthinuria type I + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 596448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596448 + IgG4-related systemic disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 + Primary hyperoxaluria type 3 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 + Primary hyperoxaluria type 2 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606 + Nephrogenic syndrome of inappropriate antidiuresis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 596753 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753 + VEXAS syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 93605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605 + Bartter syndrome type 3 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 93603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93603 + Rare renal tubular disease + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 99092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99092 + Interventricular septum aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094 + Laubry-Pezzi syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087 + Coronary ostial stenosis or atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99089 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089 + Abnormal number of coronary ostia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090 + Malposition of a coronary ostium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 + Pulmonary artery hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 + Peripheral pulmonary stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 + Cervical aortic arch + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 + Right aortic arch + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 + Dysphagia lusoria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 + Persistent fifth aortic arch + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 + Encircling double aortic arch + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 + Neuhauser anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 + Kommerell diverticulum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072 + Congenital patent ductus arteriosus aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071 + Aorto-left ventricular tunnel + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 + Complete atrioventricular septal defect-tetralogy of Fallot + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067 + Complete atrioventricular septal defect with ventricular hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070 + Aorto-right ventricular tunnel + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064 + Straddling and/or overriding mitral valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063 + Shone complex + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 + Congenital total pulmonary venous return anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 + Congenital pulmonary vein atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123 + Inferior vena cava interruption without azygos continuation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 + Congenital partial pulmonary venous return anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121 + Azygos continuation of the inferior vena cava + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122 + Congenital stenosis of the inferior vena cava + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119 + Right inferior vena cava connecting to left-sided atrium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120 + Persistent eustachian valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117 + Coronary sinus stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118 + Coronary sinus atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113 + Subaortic course of innominate vein + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114 + Agenesis of the superior vena cava + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111 + Persistent left superior vena cava connecting to the roof of left-sided atrium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112 + Absence of innominate vein + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110 + Right superior vena cava connecting to left-sided atrium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109 + Persistent left superior vena cava connecting through coronary sinus to left-sided atrium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107 + Atrial septal aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106 + Atrial septal defect, ostium primum type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105 + Atrial septal defect, sinus venosus type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104 + Atrial septal defect, coronary sinus type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103 + Atrial septal defect, ostium secundum type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99102 + Ectasia of the left atrial appendage + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99101 + Ectasia of the right atrial appendage + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99100 + Juxtaposition of the atrial appendages + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99099 + Cor triatriatum sinister + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99098 + Cor triatriatum dexter + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095 + Congenital Gerbode defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99147 + Acquired von Willebrand syndrome + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 592850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592850 + Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 592856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592856 + Neuromyelitis optica spectrum disorder with anti-MOG antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135 + 6-phosphogluconate dehydrogenase deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 592869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592869 + Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 + Hemolytic anemia due to erythrocyte adenosine deaminase overproduction + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 592873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592873 + Acute transverse myelitis with anti-MOG antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 592894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592894 + Acute disseminated encephalomyelitis with anti-MOG antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 592900 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592900 + Acute disseminated encephalomyelitis without anti-MOG antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 + Lymphedema-posterior choanal atresia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99130 + Congenital partial agenesis of pericardium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99129 + Congenital complete agenesis of pericardium + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131 + Pleuro-pericardial cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 + 48,XYYY syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330 + 49,XYYYY syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 + Mosaic monosomy X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324 + Paternal uniparental disomy of chromosome 13 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361 + Isolated familial medullary thyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177 + Isolated distichiasis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176 + Congenital eyelid retraction + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 + Monosomy X syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179 + Kandori fleck retina + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170 + Tarsal kink syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169 + Epiblepharon + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172 + Euryblepharon + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171 + Isolated congenital ectropion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657 + Primary dystonia, DYT2 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 + Complete androgen insensitivity syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642 + Spondyloepimetaphyseal dysplasia, Handigodu type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 99408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99408 + Pituitary adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 + Turner syndrome due to structural X chromosome anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646 + Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 99688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688 + Dermotrichic syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 592574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 + Menke-Hennekam syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 592564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 + GNAO1-related developmental delay-seizures-movement disorder spectrum + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 592570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 + TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672 + Fried's tooth and nail syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 + Leber plus disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 590539 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590539 + Isolated melanotic schwannoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725 + Pituitary gigantism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 589821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 + Congenital-onset Steinert myotonic dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589746 + Inherited gynecological cancer-predisposing syndrome + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 589827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 + Juvenile-onset Steinert myotonic dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 + Mesial temporal lobe epilepsy with hippocampal sclerosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 + Childhood-onset Steinert myotonic dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 + Late-onset Steinert myotonic dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 + Adult-onset Steinert myotonic dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 + Early-onset obesity-hyperphagia-severe developmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 589905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 + PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 589856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 + Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99710 + Punctate acrokeratoderma freckle-like pigmentation + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 99750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 + Atypical progressive supranuclear palsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 + Kostmann syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99748 + Pontiac fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757 + Embryonal rhabdomyosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756 + Alveolar rhabdomyosarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 + Myotonia fluctuans + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 + Isolated sulfite oxidase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 99732 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 99735 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 + Myotonia permanens + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 + Acetazolamide-responsive myotonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 + King-Denborough syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 + Amish lethal microcephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739 + Rare familial disorder with hypertrophic cardiomyopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 99745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99745 + Typhoid + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 98820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820 + Familial focal epilepsy with variable foci + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 + Familial temporal lobe epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818 + Landau-Kleffner syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816 + Childhood occipital visual epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815 + Self-limited epilepsy with autonomic seizures + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 + Hypohidrotic ectodermal dysplasia with immunodeficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 + Paroxysmal exertion-induced dyskinesia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 + Paroxysmal non-kinesigenic dyskinesia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 + Paroxysmal kinesigenic dyskinesia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 + Autosomal dominant dopa-responsive dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807 + Primary dystonia, DYT13 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838 + Primary mediastinal large B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835 + Acute undifferentiated leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833 + Acute myeloblastic leukemia without maturation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834 + Acute myeloblastic leukemia with maturation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831 + Acute myeloid leukemia with 11q23 abnormalities + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832 + Acute myeloid leukemia with minimal differentiation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98829 + Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827 + Unclassified myelodysplastic syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825 + Unclassified myelodysplastic/myeloproliferative disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826 + Myelodysplastic neoplasm with low blasts + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823 + Chronic myelomonocytic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824 + Atypical chronic myeloid leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98852 + Desquamative interstitial pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 98851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98851 + Mast cell leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 + Autosomal dominant Emery-Dreifuss muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98848 + Indolent systemic mastocytosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98850 + Aggressive systemic mastocytosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98849 + Systemic mastocytosis with associated hematologic neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844 + Classic Hodgkin lymphoma, mixed cellularity type + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843 + Classic Hodgkin lymphoma, nodular sclerosis type + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846 + Classic Hodgkin lymphoma, lymphocyte-depleted type + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845 + Classic Hodgkin lymphoma, lymphocyte-rich type + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839 + Intravascular large B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 + Lymphomatoid papulosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841 + Anaplastic large cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 589608 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 + Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 589595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595 + Mixed phenotype acute leukemia with t(v;11q23.3) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868 + Southeast Asian ovalocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869 + Congenital dyserythropoietic anemia type I + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 589618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 + Dystonia 28 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870 + Congenital dyserythropoietic anemia type III + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 589534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589534 + Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 + X-linked Emery-Dreifuss muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589527 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 + Spinocerebellar ataxia type 45 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 + GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542 + Myeloid/lymphoid neoplasm associated with JAK2 rearrangement + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 589442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 + Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 589435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 + Spondylometaphyseal dysplasia-corneal dystrophy syndrome + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 589522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 + Spinocerebellar ataxia type 46 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 589515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 + PUM1-associated developmental disability-ataxia-seizure syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 + Autosomal recessive Emery-Dreifuss muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856 + Charcot-Marie-Tooth disease type 2B1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881 + Familial dysfibrinogenemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880 + Familial afibrinogenemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879 + Hemophilia B + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886 + Bleeding diathesis due to integrin alpha2-beta1 deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885 + Bleeding diathesis due to glycoprotein VI deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 + Congenital dyserythropoietic anemia type II + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872 + Primary acquired pure red cell aplasia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871 + Transient erythroblastopenia of childhood + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878 + Hemophilia A + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 + Oculopharyngodistal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 + Becker muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 + Duchenne muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 + Amish nemaline myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 + Bilateral perisylvian polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 + Early-onset X-linked optic atrophy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98888 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98888 + X-linked complex spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893 + Congenital muscular dystrophy type 1B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 + Periventricular nodular heterotopia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 + Late-onset distal myopathy, Markesbery-Griggs type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 + Distal myotilinopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 + Presynaptic congenital myasthenic syndromes + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 + Postsynaptic congenital myasthenic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916 + Acute inflammatory demyelinating polyradiculoneuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 + Synaptic congenital myasthenic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98918 + Acute motor axonal neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98917 + Acute motor and sensory axonal neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 + Congenital myopathy with excess of thin filaments + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 + Congenital multicore myopathy with external ophthalmoplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 + Neutral lipid storage disease with myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 + Neutral lipid storage disease with ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 98910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98910 + Alpha-crystallinopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 + Desminopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 + Multiple system atrophy, parkinsonian type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 + Huntington disease-like 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98919 + Miller Fisher syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 + Spinal muscular atrophy with respiratory distress type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98922 + Blake pouch cyst + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 + Coloboma of choroid and retina + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938 + Colobomatous microphthalmia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949 + Complete cryptophthalmia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950 + Partial cryptophthalmia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947 + Coloboma of optic disc + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948 + Congenital symblepharon + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 + Coloboma of macula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946 + Coloboma of eyelid + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 + Coloboma of eye lens + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 + Coloboma of iris + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98958 + Climatic droplet keratopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957 + Gelatinous drop-like corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956 + Epithelial basement membrane dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955 + Lisch epithelial corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954 + Meesmann corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951 + Inverse Marcus-Gunn phenomenon + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964 + Lattice corneal dystrophy type I + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963 + Granular corneal dystrophy type II + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962 + Granular corneal dystrophy type I + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961 + Reis-Bücklers corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960 + Thiel-Behnke corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959 + Subepithelial mucinous corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971 + Posterior amorphous corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972 + Central cloudy dystrophy of François + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 + Posterior polymorphous corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974 + Fuchs endothelial corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967 + Schnyder corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969 + Macular corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970 + Fleck corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979 + Chandler syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980 + Cogan-Reese syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981 + Essential iris atrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976 + Congenital glaucoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977 + Juvenile glaucoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 + Axenfeld anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988 + Early-onset anterior polar cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98990 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990 + Coralliform cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 + Cerulean cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984 + Pulverulent cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985 + Early-onset sutural cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995 + Early-onset zonular cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992 + Early-onset partial cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991 + Early-onset nuclear cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994 + Total early-onset cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993 + Early-onset posterior polar cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001 + Butterfly-shaped pigment dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002 + Reticular dystrophy of the retinal pigment epithelium + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000 + Adult-onset foveomacular vitelliform dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003 + Multifocal pattern dystrophy simulating fundus flavimaculatus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99004 + Fundus pulverulentus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 + Spastic paraplegia type 7 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 + X-linked Charcot-Marie-Tooth disease type 5 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 + Spastic paraplegia type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 585867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585867 + Acute myeloid leukemia with t(9;22)(q34.1;q11.2) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 585877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877 + B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 585909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909 + B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 585936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936 + B-lymphoblastic leukemia/lymphoma with hyperdiploidy + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 585942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942 + B-lymphoblastic leukemia/lymphoma with hypodiploidy + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 585918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918 + B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 585929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929 + B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 + Adult-onset autosomal dominant leukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 585956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956 + B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 585948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948 + B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 586130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586130 + Sporadic fatal insomnia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042 + Congenitally uncorrected transposition of the great arteries with coarctation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043 + Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045 + Double outlet right ventricle with subpulmonary ventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046 + Double outlet right ventricle with non-committed subpulmonary ventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 + Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050 + Abnormal origin of right or left pulmonary artery from the aorta + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99049 + Pulmonary artery coming from patent ductus arteriosus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 + Discrete fibromuscular subaortic stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 + Discrete fixed membranous subaortic stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 + Valvular pulmonary stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 + Tunnel subaortic stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056 + Parachute tricuspid valve + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055 + Congenital anomaly of the tricuspid valve chordae + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058 + Hypoplasia of the mitral valve annulus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057 + Congenital mitral stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060 + Congenital unguarded mitral orifice + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059 + Congenital supravalvular mitral ring + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062 + Mitral valve agenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99061 + Accessory mitral valve tissue + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609 + EEC syndrome and related disorders + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98610 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98610 + Rare disorder with conjunctival involvement as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98602 + Rare disorder of the lacrimal apparatus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605 + Lacrimal drainage system anomaly + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606 + Syndromic orbital border hypoplasia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98604 + Congenital alacrima + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594 + Rare eyebrow/eyelash disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575 + Syndromic telecanthus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576 + Syndromic outer canthal malposition + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578 + Rare disorder with ptosis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567 + Rare eyelid malposition disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98570 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570 + Congenital ectropion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571 + Secondary ectropion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574 + Syndromic epicanthus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560 + Rare palpebral disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562 + Cryptophthalmia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561 + Congenital malformation of the eyelid + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564 + Eyelid border anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563 + Microblepharon-ablephara syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566 + Syndromic eyelid coloboma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98565 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565 + Syndromic ankyloblepharon filiforme adnatum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98553 + Developmental defect of the eye + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98555 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555 + Microphthalmia-anophthalmia-coloboma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557 + Syndromic aniridia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676 + Autosomal recessive isolated optic atrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 + Autosomal dominant optic atrophy, classic form + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98671 + Hereditary optic neuropathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672 + Autosomal dominant optic atrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98668 + Vitreoretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98658 + Color-vision disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655 + Lens shape anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653 + Lens position anomaly + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652 + Lens size anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98650 + Craniofacial anomaly with cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98649 + Dentocutaneous disease with cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98648 + Musculoskeletal disease with cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98644 + Metabolic disease with cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98646 + Renal disease with cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98639 + Rare lens disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98640 + Rare disorder with lens opacification + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98641 + Syndromic cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98642 + Chromosomal anomaly with cataract + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635 + Corneodysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98638 + Rare disease with glaucoma as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631 + Congenital malformation of the eye with glaucoma as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634 + Anterior segment developmental anomaly without extraocular manifestations + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98628 + Syndromic corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98627 + Posterior corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98623 + Syndromic keratoconus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98626 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98626 + Stromal corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98625 + Superficial corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619 + Rare isolated myopia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98622 + Syndromic hyperopia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98621 + Rare hyperopia and astigmatism + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98618 + Rare refraction anomaly + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 583602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 + Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 583607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 + Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 98729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729 + Congenital pulmonary veins anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 583595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 + Serine biosynthesis pathway deficiency, infantile/juvenile form + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 98727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98727 + Rare atrial defect and interatrial communication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733 + Noonan syndrome and Noonan-related syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 583612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 + Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 583856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583856 + Isolated splenic vein thrombosis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 98738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98738 + Neurological muscular channelopathy due to a genetic sodium channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 583861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583861 + Isolated mesenteric vein thrombosis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 98737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98737 + Genetic neurological muscular channelopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98742 + Neurological muscular channelopathy due to a genetic ryanodine receptor defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98741 + Neurological muscular channelopathy due to a genetic potassium channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98740 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98740 + Neurological muscular channelopathy due to a genetic calcium channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98739 + Neurological muscular channelopathy due to a genetic chloride channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98717 + Transposition of the great arteries and conotruncal cardiac anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 + Aortic malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98715 + Uveitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98716 + Heart position anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98721 + Congenital tricuspid malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98722 + Atrioventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 + Pulmonary artery or pulmonary branch anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98720 + Atrioventricular valve anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725 + Ascending aorta anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98723 + Hypoplastic right heart syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724 + Congenital anomaly of the great arteries + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98706 + Oculocutaneous or ocular albinism + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98681 + Rare disorder with strabismus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98683 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98683 + Syndromic disorder with strabismus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98684 + Craniostenosis with strabismus + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98685 + Rare oculomotor nerve disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98686 + Congenital trochlear nerve palsy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98687 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98687 + Supranuclear eye movement disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98688 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98688 + Oculomotor apraxia + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 583097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583097 + Congenital infiltrating lipomatosis of the face + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98798 + Isochromosomy Yq syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98797 + Isochromosomy Yp syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 + Angelman syndrome due to paternal uniparental disomy of chromosome 15 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 + Angelman syndrome due to maternal 15q11q13 deletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 + Prader-Willi syndrome due to paternal 15q11q13 deletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 + Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806 + Primary dystonia, DYT6 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805 + Primary dystonia, DYT4 type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 + Sleep-related hypermotor epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 + Spinocerebellar ataxia type 27A + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 + Spinocerebellar ataxia type 14 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 + Spinocerebellar ataxia type 5 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 + Spinocerebellar ataxia type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 + Spinocerebellar ataxia type 8 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 + Spinocerebellar ataxia type 17 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 + Spinocerebellar ataxia type 12 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 + Spinocerebellar ataxia type 10 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 + Spinocerebellar ataxia type 19/22 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 + Spinocerebellar ataxia type 18 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 + Spinocerebellar ataxia type 21 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 + Spinocerebellar ataxia type 13 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 + Spinocerebellar ataxia type 11 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 + Spinocerebellar ataxia type 15/16 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98747 + Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 580940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 + QRICH1-related intellectual disability-chondrodysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98748 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98748 + Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98749 + Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 580951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580951 + Punctate inner choroidopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 98750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98750 + Autoimmune neurological channelopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98743 + Genetic neurological channelopathy of the central nervous system + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98744 + Neurological channelopathy of the central nervous system due to a genetic sodium channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 580933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 + Lethal brain and heart developmental defects + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98745 + Neurological channelopathy of the central nervous system due to a genetic calcium channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98746 + Neurological channelopathy of the central nervous system due to a genetic potassium channel defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98755 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 + Spinocerebellar ataxia type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 + Spinocerebellar ataxia type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 + Spinocerebellar ataxia type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 + Spinocerebellar ataxia type 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 581271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271 + Cramp-fasciculation syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 + Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98352 + Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 98353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98353 + Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 98356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98356 + Autosomal recessive isolated diffuse palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 98357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98357 + Autosomal recessive disease with focal palmoplantar keratoderma as a major feature + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 98343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98343 + Male infertility due to obstructive azoospermia + + + + 98047 + Rare infertility + + + + Preferential parent + + + + + + 580572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580572 + Intraductal tubulopapillary neoplasm of pancreas + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 98349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98349 + Autosomal dominant isolated diffuse palmoplantar keratoderma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 98306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306 + Familial partial lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 98305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305 + Genetic lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 98307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98307 + Acquired lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 98301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98301 + Laminopathy + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 98300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98300 + Idiopathic interstitial pneumonia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 98313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98313 + Male infertility due to gonadal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 576232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 + Partial atrioventricular septal defect with ventricular hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 576235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 + Partial atrioventricular septal defect without ventricular hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 576227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 + Complete atrioventricular septal defect without ventricular hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98396 + Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 576074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576074 + Middle East respiratory syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 575553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 + Cathepsin A-related arteriopathy-strokes-leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421 + Primary acquired red cell aplasia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 576742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576742 + Genetic hemolytic uremic syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 98415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98415 + Vitamin B12- and folate-independent constitutional megaloblastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 576379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576379 + Iatrogenic Creutzfeldt-Jakob disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 576356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576356 + Sporadic human prion disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 576349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349 + NLRC4-related familial cold autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 576370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576370 + Variant Creutzfeldt-Jakob disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 576360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576360 + Acquired human prion disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 576242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576242 + Intermediate atrioventricular septal defect + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98408 + Constitutional megaloblastic anemia due to folate metabolism disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 576283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 + SATB2-associated syndrome due to a pathogenic variant + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 576278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 + SATB2-associated syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 573163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573163 + Pheochromocytoma-paraganglioma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 98374 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98374 + Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 573253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 + Split cord malformation type II + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98372 + Hemolytic anemia due to a disorder of glycolytic enzymes + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98370 + Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98369 + Rare constitutional hemolytic anemia due to an enzyme disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98366 + Constitutional hemolytic anemia due to acanthocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98365 + Hereditary stomatocytosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98364 + Rare constitutional hemolytic anemia due to a red cell membrane anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98363 + Rare hemolytic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98362 + Constitutional sideroblastic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98360 + Constitutional anemia due to iron metabolism disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 574957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957 + Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 574918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574918 + Predisposition to severe viral infection due to IRF7 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 98375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98375 + Autoimmune hemolytic anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 573278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 + Split cord malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98455 + Alpha granule disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98456 + Dense granule disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98472 + Skeletal muscle disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98473 + Muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98482 + Idiopathic inflammatory myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98486 + Metabolic myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 572385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385 + Brachydactyly type B1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 572361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 + Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98429 + Rare coagulation disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98427 + Polycythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 98428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428 + Secondary polycythemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 572428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428 + Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 98434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 + Hereditary combined deficiency of vitamin K-dependent clotting factors + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 572543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 + RFVT2-related riboflavin transporter deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 572550 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 + RFVT3-related riboflavin transporter deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 572773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 + Microcephaly-short stature-limb abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 572798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 + WARS2-related combined oxidative phosphorylation defect + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 572761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 + DONSON-related microcephaly-short stature-limb abnormalities spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 572768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 + Microcephaly-micromelia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 + Non-syndromic pontocerebellar hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98519 + Posterior fossa malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98534 + Neurodegenerative disease with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540 + Late-onset ataxia with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98539 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539 + Early-onset ataxia with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 572013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 + Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98542 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98542 + Infectious disease with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98535 + Frontotemporal degeneration with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538 + Ataxia with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 572333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 + Blepharophimosis-ptosis-epicanthus inversus syndrome plus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 572354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 + Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98549 + Rare cerebrovascular dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98544 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98544 + Cerebral lipidosis with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98543 + Metabolic disease with dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 570762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570762 + Infective endocarditis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 98494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98494 + Acquired neuromuscular junction disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 570491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 + QRSL1-related combined oxidative phosphorylation defect + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 98491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98491 + Neuromuscular junction disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 570470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570470 + Ricin poisoning + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 570438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438 + HHV-8-associated multicentric Castleman disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 570431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431 + Idiopathic multicentric Castleman disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 570422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 + Galactose mutarotase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 570371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371 + Bartter syndrome type 5 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 98497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98497 + Genetic peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98495 + Genetic neuromuscular junction disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98496 + Rare peripheral neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98506 + Acquired motor neuron disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98505 + Genetic motor neuron disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98503 + Motor neuron disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 98518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518 + Cranial nerve and nuclear aplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98516 + Malformation of the cerebellar hemispheres + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 98514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98514 + Malformation of the cerebellar vermis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 708684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708684 + Eosinophilic cystitis + + + + + 708881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708881 + Phenylalanine hydroxylase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 708895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708895 + Tetrahydrobiopterin-unresponsive phenylketonuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 708203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708203 + Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome + + + + + 708651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708651 + Phosphoribosylformylglycinamidine synthase deficiency + + + + + 708208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708208 + Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome + + + + + 714154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714154 + Idiopathic multifocal choroiditis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714150 + Stellate non-hereditary idiopathic foveomacular retinoschisis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714138 + Circumscribed choroidal hemangioma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714385 + Global developmental delay-high pain tolerance-intellectual disability syndrome + + + + + 714164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714164 + Acute posterior multifocal placoid pigment epitheliopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714160 + Presumed ocular histoplasmosis syndrome + + + + + 714079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714079 + Complete congenital stationary night blindness, Schubert-Bornschein type + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714070 + Incomplete congenital stationary night blindness, Schubert-Bornschein type + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714046 + Primary choroidal lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 714041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714041 + Straatsma syndrome + + + + + 714109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714109 + Ocular siderosis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714101 + Acute idiopathic maculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714096 + Congenital stationary night blindness, Riggs type + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714090 + Congenital stationary night blindness, Schubert-Bornschein type + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 714484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714484 + AGR2-related infantile-onset inflammatory bowel disease + + + + + 714487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714487 + Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome + + + + + 714477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714477 + Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome + + + + + 714481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714481 + SCGN-related severe early-onset hereditary ulcerative colitis + + + + + 714496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714496 + Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome + + + + + 714652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714652 + PCDH19 clustering epilepsy + + + + + 714490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714490 + PERCC1-related congenital intractable malabsorptive diarrhea + + + + + 714493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714493 + Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency + + + + + 714407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714407 + Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation + + + + + 714410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714410 + CARD8-related inflammatory bowel disease + + + + + 714399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714399 + Global developmental delay-dental enamel defects-ataxia syndrome + + + + + 714404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714404 + Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome + + + + + 714429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714429 + Pseudo-TORCH syndrome type 3 + + + + + 714472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714472 + Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome + + + + + 714413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714413 + 9p23p22.2 microdeletion syndrome + + + + + 714423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714423 + Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome + + + + + 715120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715120 + Hyperpituitarism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 715025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715025 + Spinal fast-flow vascular malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715128 + Hemoglobin E-beta-thalassemia major + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 715125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715125 + Hemoglobin E-beta-thalassemia intermedia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 714785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714785 + Unifocal sporadic venous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 714829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714829 + Immune checkpoint inhibitor-induced myositis + + + + + 714806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714806 + Multifocal sporadic venous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 714726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714726 + Retroperitoneal arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 714715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714715 + Pelvic arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 714737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714737 + Diffuse capillary malformation with overgrowth + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 714734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714734 + Sinus pericranii + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 714698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714698 + Arteriovenous malformation of the thoraco-abdominal-pelvic cavity + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 714692 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714692 + Congenital disseminated pyogenic granuloma + + + + + 714709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714709 + Mediastinal arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 714702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714702 + Abdominal arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715326 + Spinal epidural arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715331 + Paraspinal arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715334 + Unifocal peripheral venous malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715339 + Multifocal peripheral venous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715292 + Brain pial arteriovenous fistula + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715302 + Spinal pial arteriovenous fistula + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715307 + Acquired spinal dural arteriovenous fistula + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715318 + Acquired intracranial dural arteriovenous fistula + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715154 + Low oxygen affinity alpha chain hemoglobin disease + + + + + 715157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715157 + Low oxygen affinity beta chain hemoglobin disease + + + + + 715284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715284 + Spinal cord arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715135 + Hemoglobin Lepore-beta-thalassemia intermedia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 715140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715140 + Hemoglobin Lepore-beta-thalassemia major + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 715143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715143 + Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 715147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715147 + Low oxygen affinity hemoglobin disease + + + + + 715701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715701 + Infant-type hemispheric glioma ROS1-altered + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 715697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715697 + Infant-type hemispheric glioma ALK-altered + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 715694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715694 + Infant-type hemispheric glioma NTRK-altered + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 715640 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715640 + Rothmund-Thomson syndrome type 3 + + + + + 715635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715635 + Rothmund-Thomson syndrome type 4 + + + + + 715623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715623 + Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome + + + + + 715466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715466 + Syndromic low resistance capillary malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715463 + Low resistance capillary malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715460 + Syndromic geographic pattern capillary malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715453 + Reticulated capillary malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715446 + Geographic pattern capillary malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715359 + Isolated low resistance capillary malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715353 + Isolated reticulated capillary malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715345 + Isolated geographic pattern capillary malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715923 + Intraosseous venous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 715950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715950 + Diffuse hemispheric glioma-H3 G34-mutant + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 715855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715855 + Acute exudative polymorphous vitelliform maculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 715862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715862 + Melanocytoma of the optic disc and optic nerve + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 715845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715845 + Idiopathic Acute exudative polymorphous vitelliform maculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 715850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715850 + Paraneoplastic acute exudative polymorphous vitelliform maculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 715757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715757 + Metameric fast-flow vascular malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715762 + Unifocal fast-flow vascular malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715744 + Fast-flow vascular malformation of the central nervous system + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715750 + Intracranial fast-flow vascular malformation + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 715721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715721 + High-grade astrocytoma with piloid features + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 715724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715724 + Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 715704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715704 + Infant-type hemispheric glioma MET-altered + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 716109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716109 + Global developmental delay-facial dysmorphism-brachydactyly syndrome + + + + + 716116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716116 + Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome + + + + + 716195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716195 + Rare inflammatory choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716198 + Rare paraneoplastic choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716201 + Rare vascular choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716204 + Rare neoplastic choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716207 + Rare benign neoplastic choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716210 + Rare malignant neoplastic choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716213 + Rare isolated developmental choroidal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716290 + Rare predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716293 + Rare non-progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716296 + Rare isolated non-progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716299 + Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716304 + Rare progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716342 + Rare disorder with progressive predominantly chorioretinal disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716348 + Rare isolated progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716361 + Rare progressive generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716358 + Rare generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716367 + Rare isolated non-progressive generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716364 + Rare non-progressive generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716393 + Rare disorder with non-progressive generalized retinal disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716410 + Rare isolated progressive generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716405 + Rare disorder with progressive generalized retinal disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716416 + Rare progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716413 + Rare non-progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716422 + Rare disorder with non-progressive predominantly macular disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716419 + Rare isolated non-progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716432 + Rare isolated progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716427 + Rare disorder with progressive predominantly macular disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716438 + Rare progressive vitreoretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716435 + Rare non-progressive vitreoretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716450 + Rare non-progressive retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716455 + Rare progressive retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716441 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716441 + Rare isolated progressive vitreoretinopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716446 + Rare disorder with progressive vitreoretinopathy disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716742 + Congenital myasthenic syndrome with kinetic defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716459 + Rare disorder with progressive retinal vasculopathy as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716466 + Rare isolated progressive retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 716772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716772 + Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716758 + Fast-channel congenital myasthenic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716765 + Slow-channel congenital myasthenic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716825 + Congenital myasthenic syndrome due to defects in endplate development and maintenance + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716816 + Congenital myasthenic syndrome with primary acetylcholine receptor deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716899 + Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716893 + Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716889 + Congenital myasthenic syndromes due to defective axonal transport + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716881 + Congenital myasthenic syndrome due to a sodium channel 1.4 defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716917 + Congenital myasthenic syndrome with mitochondrial defect + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716913 + Ubiquitously expressed proteins associated congenital myasthenic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716908 + Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 716903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716903 + Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 717260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717260 + Rare genetic generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717257 + Rare genetic predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717317 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717317 + Rare genetic isolated progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717321 + Rare genetic progressive generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717324 + Rare genetic isolated progressive generalized retinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717327 + Rare genetic non-progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717268 + Circumscribed astrocytic glioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 717308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717308 + Rare genetic non-progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717311 + Rare genetic isolated non-progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717314 + Rare genetic progressive predominantly chorioretinal disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717342 + Rare genetic progressive retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717345 + Rare genetic isolated progressive retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717348 + Rare genetic disorder with progressive vasculopathy disorder as a major feature + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717564 + Dural sinus malformation without arteriovenous shunt + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 717330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717330 + Rare genetic isolated non-progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717333 + Rare genetic progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717336 + Rare genetic isolated progressive predominantly macular disorder + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717339 + Rare genetic non-progressive retinal vasculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 717605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717605 + Capillary-lymphatic malformation + + + + + 717598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717598 + Lymphatic-venous malformation + + + + + 717619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717619 + Capillary-lymphatic-venous malformation + + + + + 717611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717611 + Capillary-venous malformation + + + + + 717585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717585 + Kasabach-Merritt-like phenomenon + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 717582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717582 + Coagulation abnormality associated with a vascular anomaly + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 717593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717593 + Disseminated intravascular coagulation associated with a vascular anomaly + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 717588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717588 + Localized intravascular coagulation + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 717812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717812 + 12q24.31 microdeletion syndrome + + + + + 717795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717795 + Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome + + + + + 717830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717830 + 2p14p15 microdeletion syndrome + + + + + 717823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717823 + Global developmental delay-recurrent infections-facial dysmorphism syndrome + + + + + 717646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717646 + Congenital midnasal stenosis + + + + + 717638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717638 + Aquagenic urticaria + + + + + 717784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717784 + Partial trisomy 12q syndrome + + + + + 717757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717757 + Rare immune disease with inflammatory bowel disease + + + + + 717865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717865 + Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease + + + + + 717868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717868 + Rare skin disease with inflammatory bowel disease + + + + + 717862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717862 + Rare disorder with inflammatory bowel disease + + + + + 717851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717851 + Rare non-syndromic inflammatory bowel disease + + + + + 717854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717854 + Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome + + + + + 717841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717841 + Global developmental delay-facial dysmorphism-atrial septal defect syndrome + + + + + 717846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717846 + Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome + + + + + 717884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717884 + Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome + + + + + 717877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717877 + Rare miscellaneous disease with inflammatory bowel disease + + + + + 717871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717871 + Rare systemic or rheumatologic diseases with inflammatory bowel disease + + + + + 717874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717874 + Rare inborn error of metabolism with inflammatory bowel disease + + + + + 718047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718047 + Combined immunodeficiency due to polymerase delta deficiency + + + + + 718037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718037 + Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency + + + + + 718017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718017 + Combined immunodeficiency due to COPG1 deficiency + + + + + 718255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718255 + Rare Y-linked non-syndromic sensorineural deafness type DFNY + + + + + 718079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718079 + Combined immunodeficiency with normal B cells and normal immunoglubulins + + + + + 718072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718072 + Combined immunodeficiency with low CD8 and normal CD4 + + + + + 718053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718053 + Combined immunodeficiency with low CD4 and normal CD8 + + + + + 694963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694963 + Inflammatory breast cancer + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 694946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 + Alazami-Yuan syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 694956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 + Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 695020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695020 + Urachal carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 694356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694356 + ADAR-related hereditary spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 694937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 + Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 694922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 + Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 693912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693912 + EPHB4-related capillary malformation-arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 693907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693907 + RASA1-related capillary malformation-arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 694308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694308 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 694304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694304 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 694228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694228 + Congenital intrahepatic arterioportal fistula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 693872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693872 + Urinary tract arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 117573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573 + Syndromic anorectal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 693869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693869 + Gallblader arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 696189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 + Congenital generalized lipodystrophy type 1 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 696206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 + Congenital generalized lipodystrophy type 3 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 696242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 + PPARG-associated congenital generalized lipodystrophy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 696289 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 + Congenital generalized lipodystrophy type 2 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 695783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 + EDEM3-CDG + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 695807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 + Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 696063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696063 + PLIN4-related distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 696078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696078 + Central giant cell granuloma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 696175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696175 + Encapsulating peritoneal sclerosis + + + + 165711 + Rare abdominal surgical disease + + + + Preferential parent + + + + + + 695164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695164 + Combined immunodeficiency with low B cells and hypogammaglobulinemia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 695147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695147 + Sickle cell-beta plus-thalassemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 695183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695183 + Late-onset combined immunodeficiency due to ICOS deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 695172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695172 + Combined immunodeficiency due to dimerization defective IKAROS mutation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 695611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695611 + 3q26q28 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 695191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695191 + Late-onset combined immunodeficiency due to ICOSL deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 695631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695631 + Primary vitreoretinal large B-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 695032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695032 + Giant omphalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 695023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695023 + Pure squamous carcinoma of the urothelial tract + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 695038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695038 + Small omphalocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 695131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695131 + Acinar cystic transformation of the pancreas + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 695110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 + MAN2B2-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 695140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695140 + Sickle cell-beta zero-thalassemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 695136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695136 + Infant-type hemispheric glioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 104077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 + Myopathic intestinal pseudoobstruction + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 697091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697091 + Emergomycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 697096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697096 + Cryptosporidiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 104076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076 + Leiomyosarcoma of small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 104075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075 + Adenocarcinoma of the small intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 104013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013 + Metabolic disease with intestinal involvement + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 104012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104012 + Rare inflammatory bowel disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 104011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011 + Rare tumor of intestine + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 697053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697053 + Talaromycosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 104010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 + Intestinal polyposis syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 104009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 + Rare disease involving intestinal motility + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 697067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697067 + Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 696942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696942 + Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 104008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008 + Short bowel syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696945 + X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 104007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 + Congenital enteropathy involving intestinal mucosa development + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696931 + Common variable immunodeficiency phenotype due to TWEAK deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 104006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006 + Congenital intestinal disease due to an enzymatic defect + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 104005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104005 + Intestinal disease due to fat malabsorption + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 104004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004 + Intestinal disease due to vitamin absorption anomaly + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696925 + Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 104003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 + Congenital intestinal transport defect + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 103919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103919 + Autoimmune pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696907 + Common variable immunodeficiency phenotype due to homozygous TACI deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 103918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918 + Tropical pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696904 + Common variable immunodeficiency phenotype due to IRF2BP2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 696897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696897 + Congenital megaprepuce + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 696894 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696894 + Common variable immunodeficiency phenotype due to CD21 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 103910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 + Congenital enterocyte heparan sulfate deficiency + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 103908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 + Congenital sodium diarrhea + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696881 + Common variable immunodeficiency phenotype due to CD19/CD81 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 103909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 + Trehalase deficiency + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696874 + NFKB1-related immune dysregulation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 696870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696870 + Common variable immunodeficiency phenotype due to germinal monogenic mutation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 103907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 + Chronic diarrhea due to glucoamylase deficiency + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 696863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696863 + Common variable immunodeficiency phenotype due to somatic mutations + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 696857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696857 + Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 102724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102724 + Acute myeloid leukemia with t(8;21)(q22;q22) translocation + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 696851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696851 + Common variable immunodeficiency and related disorders + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 102379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102379 + Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 102381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102381 + Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 696830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696830 + Female adnexal tumor of probable Wolffian origin + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 698043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698043 + Fibromuscular dysplasia of the renal arteries + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 109011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109011 + Non-syndromic limb malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 698059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698059 + Fibromuscular dysplasia of the coronary arteries + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 109009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009 + Syndrome with limb malformations as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 698063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698063 + Fibromuscular dysplasia of the visceral arteries + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 117569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117569 + Rare intestinal disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 698069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698069 + Fibromuscular dysplasia of the arteries of the extremities + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 698005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698005 + Epilepsy with generalized tonic-clonic seizures alone + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 698012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698012 + Fibromuscular dysplasia + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 109007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109007 + Arthrogryposis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 698036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698036 + Fibromuscular dysplasia of the cervical and intracranial arteries + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 108995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108995 + Syndromic respiratory or mediastinal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993 + Non-syndromic respiratory or mediastinal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108999 + Rare disorder due to toxic effects + + + + + 31824 + Colchicine poisoning + + + Preferential parent + + + + + + 31825 + Methanol poisoning + + + Preferential parent + + + + + + 31826 + Ethylene glycol poisoning + + + Preferential parent + + + + + + 31827 + Paraquat poisoning + + + Preferential parent + + + + + + 31828 + Digitalis poisoning + + + Preferential parent + + + + + + 35889 + Acute opioid intoxication + + + Preferential parent + + + + + + 43117 + Acute tricyclic antidepressant poisoning + + + Preferential parent + + + + + + 43119 + Acute poisoning by drugs with membrane-stabilizing effect + + + Preferential parent + + + + + + 60014 + Argyria + + + Preferential parent + + + + + + 73423 + Acute ackee fruit intoxication + + + Preferential parent + + + + + + 90068 + Cocaine intoxication + + + Preferential parent + + + + + + 90069 + Systemic monochloroacetate poisoning + + + Preferential parent + + + + + + 217064 + 5-fluorouracil poisoning + + + Preferential parent + + + + + + 227972 + Toxic oil syndrome + + + Preferential parent + + + + + + 247165 + Infantile mercury poisoning + + + Preferential parent + + + + + + 293807 + Ketamine-induced biliary dilatation + + + Preferential parent + + + + + + 306640 + Rare intoxication due to medical products + + + Preferential parent + + + + + + 330015 + Lead poisoning + + + Preferential parent + + + + + + 330021 + Mercury poisoning + + + Preferential parent + + + + + + 449285 + Snakebite envenomation + + + Preferential parent + + + + + + 454831 + Acute radiation syndrome + + + Preferential parent + + + + + + 464458 + Paracetamol poisoning + + + Preferential parent + + + + + + 466670 + Cyanide poisoning + + + Preferential parent + + + + + + 466677 + Scorpion envenomation + + + Preferential parent + + + + + + 521132 + Radiation-induced disorder + + + Preferential parent + + + + + + 529831 + Letrozole toxicity + + + Preferential parent + + + + + + 556508 + Rare disorder due to poisoning + + + Preferential parent + + + + + + 565782 + Methotrexate toxicity + + + Preferential parent + + + + + + 108997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108997 + Rare anemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 697760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697760 + Intellectual disability-nasal speech-craniofacial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697764 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697764 + Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697986 + Congenital peritoneal encapsulation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108991 + Syndrome with a central nervous system malformation as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108989 + Non-syndromic central nervous system malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108977 + Non-syndromic diaphragmatic or abdominal wall malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697414 + Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 108979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108979 + Syndromic diaphragmatic or abdominal wall malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697734 + ST3GAL3-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 697417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697417 + Common variable immunodeficiency phenotype due to SEC61A1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 108969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969 + Syndromic intestinal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971 + Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697394 + Combined immunodeficiency due to c-REL deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 697403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697403 + Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 108973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108973 + Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961 + Syndromic esophageal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 + Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108963 + Non-syndromic gastroduodenal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 108965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108965 + Syndromic gastroduodenal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697389 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697389 + Combined immunodeficiency due to HELIOS deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 697385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697385 + Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 108967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967 + Non-syndromic intestinal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 104078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 + Unclassified intestinal pseudoobstruction + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 697132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697132 + Lymphoepithelial cyst of the pancreas + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 697101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697101 + Fontaine progeroid syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 697160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697160 + Infantile epileptic spasms syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 108959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108959 + Non-syndromic esophageal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 699593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699593 + Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101995 + Periodic fever syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 699590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699590 + Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101992 + Immunodeficiency due to a complement cascade protein anomaly + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 699578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699578 + Combined immunodeficiency with low Ig due to BCL10 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101998 + Rare epilepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699605 + NEMO deleted exon 5 autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 699599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699599 + ICHAD syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 699596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699596 + Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101997 + Primary immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 699645 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699645 + Variable age-onset epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102002 + Rare ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102003 + Rare movement disorder + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699618 + Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 102000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102000 + Medullar disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699615 + Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 102006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102006 + Neurovascular malformation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699683 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699683 + Fibro-adipose vascular anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 699678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699678 + Necrotizing cellulitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 102005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102005 + Brain inflammatory disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 698260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698260 + Carotid web + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101977 + Immunodeficiency predominantly affecting antibody production + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 698085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698085 + Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 698090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698090 + Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 698914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698914 + Platelet-activating anti-platelet factor 4 disorder + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 698945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698945 + Autoimmune heparin-induced thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 699057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699057 + Annular erythema of infancy + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 101987 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987 + Congenital neutropenia + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 699021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699021 + Spontaneous heparin-induced thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 101985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101985 + Quantitative and/or qualitative congenital phagocyte defect + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 699029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699029 + Vaccine-induced immune thrombotic thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 699068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699068 + Fontan-associated liver disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 101988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101988 + Primary immunodeficiency due to a defect in innate immunity + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 699835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699835 + Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 102024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102024 + Human herpesvirus 8-related disorder + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 699822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699822 + Sickle cell S-Lepore disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 699850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699850 + 2p25.3 microduplication syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 + Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 700085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700085 + Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 102237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102237 + Unexplained periodic fever syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 700090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700090 + Sickle cell S-O Arab disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 700111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700111 + Homozygous hemoglobin O Arab disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 700107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700107 + Sickle cell S-other specified hemoglobin variant + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 102283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283 + Multiple congenital anomalies/dysmorphic syndrome-intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 700133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700133 + Idiopathic chronic pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 700124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700124 + Autosomal recessive hereditary chronic pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 102285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285 + Multiple congenital anomalies/dysmorphic syndrome without intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 102369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102369 + Rare syndromic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700139 + Late-onset idiopathic chronic pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 700136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700136 + Early-onset idiopathic chronic pancreatitis + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 102009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 + Classic lissencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 699697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699697 + Necrotizing fasciitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 699702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699702 + Necrotizing myositis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 102011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 + Lissencephaly type 3 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 699708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 + CLN14 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 + Other syndrome with lissencephaly as a major feature + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 102013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102013 + Complex hereditary spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 + Infantile CLN1 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102012 + Pure hereditary spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 + Late infantile CLN1 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102015 + Autosomal recessive limb-girdle muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 + Juvenile CLN1 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 + Adult CLN1 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102014 + Autosomal dominant limb-girdle muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 + Infantile CLN2 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 + Late infantile CLN2 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 + Juvenile CLN2 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 + Juvenile CLN3 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 + Protracted juvenile CLN3 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102021 + Rickettsial disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 102020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102020 + Autosomal monosomy syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 699802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 + Late infantile CLN5 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102023 + Typhus-group rickettsiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 699807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 + Juvenile CLN5 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 699812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 + Adult CLN5 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 102022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102022 + Spotted fever rickettsiosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 101934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934 + Genetic cardiac rhythm disease + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 700508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700508 + Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932 + Anomaly of the mitral subvalvular apparatus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 700497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 + Juvenile CLN10 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 + Late infantile CLN10 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 + Congenital CLN10 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 + Late infantile CLN8 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 + Adult CLN6 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101685 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 + Rare non-syndromic intellectual disability + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 + Juvenile CLN6 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101943 + Rare hepatic and biliary tract tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 101940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101940 + Rare metabolic liver disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 101941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101941 + Rare biliary tract disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 101938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101938 + Rare vascular liver disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 101939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101939 + Rare parenchymal liver disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 101936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101936 + Rare gastroesophageal disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 101937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101937 + Rare pancreatic disease + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 700188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700188 + Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 + Familial isolated congenital asplenia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 700170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 + DNAJB4-related distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 + ADNP-related blepharophimosis-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 700163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700163 + SMPX-related distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700143 + X-linked distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700154 + TARDBP-related predominantly upper-limb distal myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101435 + Rare genetic eye disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 700467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 + Late infantile CLN6 disease + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 + Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101433 + Rare urogenital disease + + + + + 2795 + Fowler urethral sphincter dysfunction syndrome + + + Preferential parent + + + + + + 617 + Congenital primary megaureter + + + Preferential parent + + + + + + 37202 + Interstitial cystitis + + + Preferential parent + + + + + + 84085 + Hinman syndrome + + + Preferential parent + + + + + + 140949 + Low-flow priapism + + + Preferential parent + + + + + + 156619 + Rare genetic urogenital disease + + + Preferential parent + + + + + + 238637 + Megacystis-megaureter syndrome + + + Preferential parent + + + + + + 238642 + Primary megaureter, adult-onset form + + + Preferential parent + + + + + + 238646 + Congenital primary megaureter, obstructed form + + + Preferential parent + + + + + + 238650 + Congenital primary megaureter, refluxing form + + + Preferential parent + + + + + + 238654 + Congenital primary megaureter, nonrefluxing and unobstructed form + + + Preferential parent + + + + + + 289365 + Familial vesicoureteral reflux + + + Preferential parent + + + + + + 544578 + Congenital primary megaureter, refluxing and obstructed form + + + Preferential parent + + + + + + 692256 + Isolated anogenital granulomatosis + + + Preferential parent + + + + + + 700336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 + Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 700325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700325 + NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 700205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700205 + Combined immunodeficiency due to IKBKB gain-of-function mutation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 700286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700286 + Congenital high airway obstruction syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 708043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708043 + Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples + + + + + 708036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708036 + Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth + + + + + 708051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708051 + Peripheral congenital arteriovenous fistula + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 708046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708046 + Peripheral arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 708007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708007 + Intramuscular fast-flow vascular anomaly + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 101960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101960 + Genetic chronic primary adrenal insufficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 707993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707993 + Methemoglobinemia-related cyanosis + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 708019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708019 + Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome + + + + + 708014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708014 + Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment + + + + + 101963 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101963 + Acquired chronic primary adrenal insufficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 708171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708171 + Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy + + + + + 101972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101972 + Combined T and B cell immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 708166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708166 + Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome + + + + + 708178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708178 + Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome + + + + + 708126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708126 + DNAJB6-related distal myopathy + + + + + 708123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708123 + Autosomal dominant distal nebulin myopathy + + + + + 708133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708133 + Autosomal dominant ACTN2-related distal myopathy + + + + + 708129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708129 + Autosomal recessive ACTN2-related distal myopathy + + + + + 101950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101950 + Rare eye tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 101945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101945 + Rare bronchopulmonary and pleural cavity tumors + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 101944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101944 + Rare pulmonary disease + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 707792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707792 + Unstable gamma globin chain variant disease + + + + + 101957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101957 + Pituitary deficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 707937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707937 + Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome + + + + + 101956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101956 + Polyendocrinopathy + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 707944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707944 + Peripheral fast-flow vascular malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101959 + Chronic primary adrenal insufficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 707983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707983 + Early-onset autosomal recessive TTN-related distal myopathy + + + + + 101958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101958 + Primary adrenal insufficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 101953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953 + Rare dyslipidemia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 101952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101952 + Rare diabetes mellitus + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 707786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707786 + Thalassemia + + + + + 101955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101955 + Rare thyroid disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 707789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707789 + Unstable alpha globin chain variant disease + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 101954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101954 + Rare adrenal disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 664511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 + Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 + Autosomal recessive dopa-responsive dystonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 + Hermansky-Pudlak syndrome due to AP3B1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 664482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664482 + Primary hemophagocytic lymphohistiocytosis without hypopigmentation + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 + Spinocerebellar ataxia type 25 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 + Spinocerebellar ataxia type 26 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664456 + Immune dysregulation disease with immunodeficiency associated with EBV susceptibility + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 + Spinocerebellar ataxia type 28 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664450 + Inherited cancer-predisposing lymphoproliferative syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 664438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 + Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 + Spinocerebellar ataxia type 20 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 + Spinocerebellar ataxia type 23 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664430 + Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 664416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 + Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 664410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664410 + Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 665058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665058 + Common arterial trunk with pulmonary dominance and interrupted aortic arch + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 667589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667589 + Isolated congenital femoral bifurcation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 665044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665044 + Common arterial trunk with aortic dominance + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101334 + African tick typhus + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 664912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664912 + Neonatal renal venous thrombosis + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 664923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 + Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 664787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664787 + Nicolau syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 101330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 + Porphyria cutanea tarda + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 664901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664901 + Trigeminal trophic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664729 + EBV-induced lymphoproliferative disease due to TET2 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 664734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664734 + EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 664726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664726 + EBV-induced lymphoproliferative disease due to CD137 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 + Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 664711 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664711 + EBV-induced lymphoproliferative disease due to PRKCD deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 664699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664699 + EBV-induced lymphoproliferative disease due to RASGRP1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 662473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662473 + Isolated duodenal duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 + Charcot-Marie-Tooth disease type 1F + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 662456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662456 + Isolated small intestine duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662721 + Placenta accreta spectrum disorder + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 662480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662480 + Isolated jejuno-ileal duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 + X-linked hyper-IgM syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 662388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662388 + Isolated gallbladder duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 + Charcot-Marie-Tooth disease type 1A + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 662376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662376 + Isolated gastric duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 + Charcot-Marie-Tooth disease type 1B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 662405 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662405 + Isolated pyloric duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083 + Charcot-Marie-Tooth disease type 1C + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 662392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662392 + Isolated colonic duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084 + Charcot-Marie-Tooth disease type 1D + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 662240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662240 + Frey syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 + X-linked Charcot-Marie-Tooth disease type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 + X-linked Charcot-Marie-Tooth disease type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 662234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662234 + Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 + NESCAV syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 662255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662255 + Grisel syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 662216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 + Mucopolysaccharidosis type 10 + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 662207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 + Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662229 + Episodic memory defect leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 + X-linked Charcot-Marie-Tooth disease type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 + X-linked Charcot-Marie-Tooth disease type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664377 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664377 + MGP-related spondyloepiphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 101102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 + Charcot-Marie-Tooth disease type 2H + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 + Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 + Charcot-Marie-Tooth disease type 2B2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 + 6q25.1 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104 + Marin-Amat syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 101097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 + Autosomal recessive Charcot-Marie-Tooth disease with hoarseness + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 664372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664372 + Soft and hard cleft palate + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 + Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 + Hyper-IgM syndrome type 3 + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 662786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662786 + Vasa previa + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 101089 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 + Hyper-IgM syndrome type 2 + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 662829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 + Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 + Hyper-IgM syndrome type 5 + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 662934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662934 + Acute megakaryoblastic leukemia in adult + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 101091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091 + Hyper-IgM syndrome type 4 + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 675362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675362 + Hobnail hemangioma + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 675359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675359 + Anastomosing haemangioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 + Spinocerebellar ataxia type 27B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 + Familial hypocalciuric hypercalcemia type 2 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 101050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 + Familial hypocalciuric hypercalcemia type 3 + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 674968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674968 + Bilateral diffuse uveal melanocytic proliferation disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 675380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675380 + Isolated segmental infantile hemangioma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 675369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675369 + Microvenular haemangioma + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 101043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 + Congenital aortic valve dysplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 674943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674943 + Isolated angioid streaks + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 674935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674935 + Torpedo Maculopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 674930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674930 + Perifoveal exudative vascular anomalous complex + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 101041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 + Familial hypofibrinogenemia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 674924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674924 + Isolated retinal racemose hemangioma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 674965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674965 + Choroidal osteoma + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 674958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674958 + Stellate multiform amelanotic choroidopathy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 674953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674953 + Multiple evanescent white dot syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 674947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674947 + Diffuse unilateral subacute neuroretinitis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 101046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 + Epilepsy with auditory features + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068 + Congenital stromal corneal dystrophy + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 675767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675767 + Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 + Unilateral hemispheric polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 + Bilateral frontoparietal polymicrogyria + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 675597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675597 + Acquired elastotic haemangioma + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 675396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675396 + Epithelioid hemangioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675404 + May-Thurner syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 675628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675628 + TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 + Situs inversus totalis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 667678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667678 + Intraoral basal cell carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 667662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667662 + Breast implant-associated anaplastic large cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 672979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672979 + Craniosynostosis-facial dysmorphism-brachydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 673466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673466 + Malignant vascular tumor + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 672985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672985 + Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023 + Cleft hard palate + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 673473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673473 + Borderline vascular tumor + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 673470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673470 + Benign vascular tumor + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 101009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 + Autosomal dominant spastic paraplegia type 29 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 + Autosomal spastic paraplegia type 30 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 + Autosomal dominant spastic paraplegia type 31 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 + Romano-Ward syndrome + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 673580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673580 + Classic pilocytic astrocytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 673585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673585 + Pilocytic astrocytoma with histological features of anaplasia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 674499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674499 + Proteoglycan-related bone disorder + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 674648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674648 + Syndrome with congenital phagocyte functional defect as a major feature + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 674653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 + Actinomyopathy-associated syndromic thrombocytopenia + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 674762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 + Early-onset autoinflammatory syndrome due to A20 haploinsufficiency + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 674896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674896 + Non-syndromic congenital phagocyte functional defect + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 673525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673525 + Intravascular papillary endothelial hyperplasia + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 673538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673538 + Littoral cell hemangioma of the spleen + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 101028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 + Transaldolase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 673543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673543 + Papillary hemangioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 101030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 + Subependymal nodular heterotopia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 + Sub-cortical nodular heterotopia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 673556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673556 + Pseudomyogenic hemangioendothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 673568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673568 + Eccrine angiomatous hamartoma + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 673574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673574 + Reactive angioendotheliomatosis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 + Autosomal dominant spastic paraplegia type 3 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 685067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 + Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 685082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685082 + Pediatric acute respiratory distress syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 685017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 + Combined immunodeficiency due to TBX1 deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100982 + Autosomal recessive pure spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100981 + Autosomal recessive complex spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 685004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685004 + Primary pericardial mesothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980 + Autosomal dominant pure spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 685010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685010 + Mesothelioma of the tunica vaginalis + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979 + Autosomal dominant complex spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978 + Cloverleaf skull-asphyxiating thoracic dysplasia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 684757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684757 + Malformation of the anal canal and the rectum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 686468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686468 + Post 5-alpha-reductase inhibitors treatment syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 686475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686475 + Post-selective serotonin reuptake inhibitor sexual dysfunction + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 + Autosomal dominant spastic paraplegia type 10 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 686462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686462 + Non-fibrotic hypersensitivity pneumonitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 686465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686465 + Fibrotic hypersensitivity pneumonitis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 100989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 + Autosomal dominant spastic paraplegia type 8 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 + Autosomal dominant spastic paraplegia type 6 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 + Autosomal recessive spastic paraplegia type 5A + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 + Autosomal dominant spastic paraplegia type 4 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 687424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 + ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 + Autosomal dominant spastic paraplegia type 19 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 + Autosomal recessive spastic paraplegia type 20 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 686999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 + Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 + X-linked spastic paraplegia type 16 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 686556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686556 + Isolated congenital cholesteatoma of the middle ear + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 + Autosomal dominant spastic paraplegia type 17 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995 + Autosomal recessive spastic paraplegia type 14 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 686495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 + MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100996 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 + Kjellin syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 686488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 + RNU4-2-related autosomal dominant neurodevelopmental disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 + Autosomal dominant spastic paraplegia type 12 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 686482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 + BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 + Autosomal dominant spastic paraplegia type 13 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 688563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688563 + Combined immunodeficiency with normal Ig and poor specific antibody response + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 + Autosomal recessive spastic paraplegia type 27 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 688543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 + Reticular dysgenesis-like severe combined immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 101008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 + Autosomal recessive spastic paraplegia type 28 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 688523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688523 + Splenic venous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 101005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 + Autosomal recessive spastic paraplegia type 25 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 101006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 + Autosomal recessive spastic paraplegia type 26 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 687741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 + Multisystem Langerhans cell histiocytosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 687738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 + Single-system multifocal Langerhans cell histiocytosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 101003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 + Autosomal recessive spastic paraplegia type 23 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 687733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 + Pulmonary Langerhans cell histiocytosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 101004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 + Autosomal recessive spastic paraplegia type 24 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 687730 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 + Unifocal Langerhans cell histiocytosis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 101001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 + Autosomal recessive spastic paraplegia type 21 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 687695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 + 10p13-p14 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 675822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675822 + Well-differentiated papillary mesothelial tumour of the pleura + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100088 + Rare thyroid carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675833 + Localized pleural mesothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675837 + Diffused pleural mesothelioma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100091 + Adrenal/paraganglial tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675841 + Pleural mesothelioma in situ + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100090 + Rare parathyroid tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085 + Primary hepatic neuroendocrine carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 + Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084 + Middle ear neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 + Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100087 + Rare thyroid tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 675814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675814 + Adenomatoid tumour of the pleura + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086 + Gallbladder neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 676039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676039 + Combined immunodeficiency due to FOXN1 haploinsufficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 100101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100101 + Neuroendocrine tumor with other location + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100100 + Thymic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 676125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 + X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 675976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675976 + Adenomatoid tumour of the peritoneum + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093 + Carcinoid syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 676030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676030 + Primary benign peritoneal tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100092 + Gastroenteropancreatic neuroendocrine neoplasm + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 676033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676033 + Well-differentiated papillary mesothelial tumour of the peritoneum + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 676036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676036 + Peritoneal mesothelioma in situ + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094 + Multiple polyglandular tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 + Porphyria due to ALA dehydratase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 684216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 + Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 684305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 + Neurooculocardiogenitourinary syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 + FRAXE intellectual disability + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 + FRAXF syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 684290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684290 + Hypertrophic olivary degeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 684752 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684752 + Isolated anal canal duplication + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 684742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 + 2q13 microdeletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 + Bathing suit ichthyosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 684232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 + Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 684226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 + Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 684247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684247 + Isolated growth hormone deficiency type IV + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 684240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 + Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054 + F12-related hereditary angioedema with normal C1Inh + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 100051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051 + Hereditary angioedema type 2 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 100057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100057 + Renin-angiotensin-aldosterone system-blocker-induced angioedema + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 692173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692173 + Marbach-Schaaf neurodevelopmental syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100056 + Acquired angioedema type 1 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 100055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100055 + Acquired angioedema type 2 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 692271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692271 + Cerebral proliferative angiopathy + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 692296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 + Idiopathic triglyceride deposit cardiomyovasculopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 692193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692193 + CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 692256 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692256 + Isolated anogenital granulomatosis + + + + 101433 + Rare urogenital disease + + + + Preferential parent + + + + + + 692812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 + RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 693549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 + Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 692305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 + Triglyceride deposit cardiomyovasculopathy + + + + 97929 + Rare cardiac disease + + + + Preferential parent + + + + + + 692790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 + ATP6AP1-CDG + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 100069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 + Semantic dementia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 693627 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693627 + Agammaglobulinemia-skin involvement-failure to thrive syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 100070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 + Progressive non-fluent aphasia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100067 + Waterhouse-Friderichsen syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 693681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693681 + Activated PI3K-delta syndrome 2 + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 100073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100073 + Neurogenic thoracic outlet syndrome + + + + 97962 + Rare surgical thoracic disease + + + + Preferential parent + + + + + + 100075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075 + Neuroendocrine tumor of stomach + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 693661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693661 + Activated PI3K-delta syndrome 1 + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 100071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071 + Mosaic trisomy 3 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 693647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 + Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 100078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078 + Ileal neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 693832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693832 + Gastrointestinal tract arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 693826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826 + Pancreatic arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079 + Neuroendocrine neoplasm of appendix + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 693815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693815 + Uterine arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076 + Duodenal neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 693802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693802 + Neonatal-infantile onset epilepsy syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077 + Jejunal neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082 + Neuroendocrine tumor of anal canal + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 693863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863 + Splenic arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 693855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693855 + Visceral arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083 + Laryngeal neuroendocrine tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080 + Neuroendocrine tumor of the colon + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 693846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693846 + Hepatic arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 693839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693839 + Renal arteriovenous malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081 + Neuroendocrine tumor of the rectum + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 688571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688571 + Combined immunodeficiency with low immunoglobulins and normal B cells + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 100020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020 + Myelodysplastic neoplasm with increased blasts type 2 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019 + Myelodysplastic neoplasm with increased blasts type 1 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 688581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 + Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 688594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 + Combined immunodeficiency due to RELB deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 100022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022 + Extramedullary soft tissue plasmacytoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 688642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 + Turnpenny-Fry syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021 + Primary plasmacytoma of the bone + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024 + Mu-heavy chain disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 688649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688649 + Isolated adrenal medullary hyperplasia + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 100026 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026 + Gamma-heavy chain disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 100025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025 + Alpha-heavy chain disease + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 688995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688995 + Scarlet fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 689001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689001 + Isolated spontaneous cervical artery dissection + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 689021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689021 + Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 + Hypocalcified amelogenesis imperfecta + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 100031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031 + Hypoplastic amelogenesis imperfecta + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 100034 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 + Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 100033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 + Hypomaturation amelogenesis imperfecta + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 689231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689231 + IFIH1-related hereditary spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100035 + Solitary necrotic nodule of the liver + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 689234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689234 + RNASEH2B-related hereditary spastic paraplegia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 689401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689401 + Acquired hypothalamic obesity + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 689397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 + Poirier-Bienvenu neurodevelopmental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 689408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 + Shashi-Pena syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 689430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689430 + Adenoid ameloblastoma + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 689422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689422 + Okur-Chung neurodevelopmental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type A + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type C + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 689829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 + Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type D + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 689822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 + Structural heart defects-renal anomalies syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047 + Isolated esophageal duplication cyst + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048 + Isolated tubular duplication of the esophagus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049 + Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 100050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050 + Hereditary angioedema type 1 + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 100016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 + Lissencephaly with cerebellar hypoplasia type F + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 + Lissencephaly with cerebellar hypoplasia type E + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 647667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 + Mandibuloacral dysplasia associated to MTX2 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 647676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676 + Multiple epiphyseal dysplasia type 7 + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 646113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113 + Intermediate collagen VI-related muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 + Lissencephaly with cerebellar hypoplasia type B + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 646136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136 + Dysplastic cortical hyperostosis, Al-Gazali type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 100011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 + Lissencephaly with cerebellar hypoplasia type A + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 646139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139 + Dysplastic cortical hyperostosis + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 100014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 + Lissencephaly with cerebellar hypoplasia type D + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 646278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 + CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 + Lissencephaly with cerebellar hypoplasia type C + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645854 + Multifocal tuberculosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 100008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 + ACys amyloidosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645859 + Primary tuberculosis of the digestive system + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 645874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645874 + Primary genito-urinary tuberculosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 646098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646098 + Collagen VI-related congenital muscular dystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645807 + Primary tuberculous lymphadenitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 645814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645814 + Primary pulmonary tuberculosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 100003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100003 + Intraneural perineurioma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645822 + Primary bone and joint tuberculosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 100006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 + ABeta amyloidosis, Dutch type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645849 + Primary cutaneous tuberculosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 645749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645749 + Congenital esophageal stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 100000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100000 + Reticular perineurioma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645793 + Spontaneous intestinal perforation + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 100001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100001 + Sclerosing perineurioma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 100002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100002 + Extraneural perineurioma + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645617 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617 + Amyopathic dermatomyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 99995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99995 + Complex regional pain syndrome type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613 + Classical dermatomyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 645626 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626 + Adermatopathic dermatomyositis + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 645393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645393 + Hemi-myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99991 + Relapsing epidemic typhus + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 645388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 + Hemi-myelomeningocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645401 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645401 + True myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645398 + Myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99994 + Complex regional pain syndrome type 2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 + Conus spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 + Dorsal spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 + True myelomeningocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 + Intermediate DEND syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 645378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 + Myelic limited dorsal malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99990 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99990 + Brill-Zinsser disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 645354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 + Saccular limited dorsal myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645359 + Intramedullary non-dysraphic spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645343 + Non-saccular limited dorsal myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645350 + Segmental arterial mediolysis + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 99983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99983 + Cutaneous myiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 645337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 + Terminal myelocystocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 + Non-terminal myelocystocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99981 + Apnea of prematurity + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 645325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325 + Isolated filum lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 + Retained medullary cord + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 + Saccular spinal dysraphism with a stalk to the dome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978 + Perihilar cholangiocarcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645322 + Isolated transitional filum lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977 + Squamous cell carcinoma of the esophagus + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645300 + Lipomatous non-saccular limited dorsal myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976 + Adenocarcinoma of the oesophagus and oesophagogastric junction + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645310 + Fibroneural non-saccular limited dorsal myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 + Posterior extramedullary conus spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 + Extramedullary conus spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 + Terminal extramedullary conus spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 + Transitional extramedullary conus spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99971 + Well-differentiated liposarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 + Chaotic conus spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99969 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99969 + Pleomorphic liposarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645282 + Anomaly of the filum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99970 + Dedifferentiated liposarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645279 + Fibrolipomatous filum anomaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99967 + Myxoid/round cell liposarcoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645276 + Spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 + Dysraphic spinal cord lipoma + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99965 + O'Sullivan-McLeod syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 645270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 + Open spinal dysraphism with a posterior meningocele + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99966 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966 + Atypical teratoid rhabdoid tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 645202 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645202 + Closed spinal dysraphism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645196 + Limited dorsal myeloschisis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 + Benign recurrent intrahepatic cholestasis type 2 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 645193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645193 + Dysraphism with stalk + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 645188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188 + Spinal dermal sinus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 + Benign recurrent intrahepatic cholestasis type 1 + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 643549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643549 + Hao-Fountain syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 643538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538 + Hao-Fountain syndrome due to USP7 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 643503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503 + Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955 + Charcot-Marie-Tooth disease type 4B1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956 + Charcot-Marie-Tooth disease type 4B2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948 + Charcot-Marie-Tooth disease type 4A + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947 + Autosomal dominant Charcot-Marie-Tooth disease type 2A2 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950 + Charcot-Marie-Tooth disease type 4D + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 649929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649929 + Central precocious puberty in male + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99949 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949 + Charcot-Marie-Tooth disease type 4C + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99952 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952 + Charcot-Marie-Tooth disease type 4F + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951 + Charcot-Marie-Tooth disease type 4E + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954 + Charcot-Marie-Tooth disease type 4H + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953 + Charcot-Marie-Tooth disease type 4G + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 648992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992 + Non-syndromic bridging bronchus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940 + Autosomal dominant Charcot-Marie-Tooth disease type 2F + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939 + Autosomal dominant Charcot-Marie-Tooth disease type 2E + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 649010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010 + Non-syndromic congenital bronchial atresia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942 + Autosomal dominant Charcot-Marie-Tooth disease type 2I + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 649014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649014 + Bronchial malformation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 649017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649017 + Rare adrenocortical nodular disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944 + Autosomal dominant Charcot-Marie-Tooth disease type 2K + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 649029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029 + Isolated left bronchial isomerism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943 + Autosomal dominant Charcot-Marie-Tooth disease type 2J + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946 + Autosomal dominant Charcot-Marie-Tooth disease type 2A1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945 + Autosomal dominant Charcot-Marie-Tooth disease type 2L + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99931 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99931 + Idiopathic pulmonary hemosiderosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 648684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648684 + Central retinal artery occlusion + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99932 + Heiner syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 648919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648919 + Idiopathic catatonia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99933 + Pleuropulmonary blastoma type 1 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99934 + Pleuropulmonary blastoma type 2 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99935 + Pleuropulmonary blastoma type 3 + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936 + Autosomal dominant Charcot-Marie-Tooth disease type 2B + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937 + Autosomal dominant Charcot-Marie-Tooth disease type 2C + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938 + Autosomal dominant Charcot-Marie-Tooth disease type 2D + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 648562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 + Ferroportin disease + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 648559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648559 + Rare scleritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 648581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 + Digenic hemochromatosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 99925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925 + Invasive mole + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 648569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569 + Non-HFE-related hemochromatosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 99926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926 + Gestational choriocarcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 648665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648665 + Infectious scleritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99927 + Hydatidiform mole + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99928 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928 + Placental site trophoblastic tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 648681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648681 + Immune-mediated scleritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 648675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648675 + Idiopathic scleritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99930 + Secondary pulmonary hemosiderosis + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 99918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99918 + Streptococcal toxic-shock syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99917 + Theca steroid-producing cell malignant tumor of ovary, not further specified + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916 + Malignant Sertoli-Leydig cell tumor of the ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915 + Malignant granulosa cell tumor of the ovary + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99922 + Ocular cicatricial pemphigoid + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99921 + Chronic graft versus host disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99920 + Acute graft versus host disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99919 + Staphylococcal toxic-shock syndrome + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914 + Gynandroblastoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99913 + Extragonadal non-dysgerminomatous germ cell tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912 + Ovarian dysgerminoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 647815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815 + Keratitis fugax hereditaria + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 99901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 + Acyl-CoA dehydrogenase 9 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 647811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811 + Cardiac-urogenital syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 647804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804 + Combined immunodeficiency due to FCHO1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 647916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647916 + Conjoined twins + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99905 + Streptobacillary rat-bite fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 647834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 + SLC40A1-related hemochromatosis + + + + 57146 + Rare hepatic disease + + + + Preferential parent + + + + + + 99903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99903 + Spirillary rat-bite fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 647823 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647823 + Idiopathic pregnancy-associated osteoporosis + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 647772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647772 + Isolated primary pigmented nodular adrenocortical disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 647768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647768 + Rare adrenocortical nodular disease with Cushing syndrome as a major feature + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 647758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647758 + Adrenal Cushing syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 647681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681 + Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892 + ACTH-dependent Cushing syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 647799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 + MYT1L-related developmental delay-intellectual disability-obesity syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 647794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794 + Isolated persistent urogenital sinus + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898 + Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 647788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647788 + Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 647782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782 + Isolated micronodular adrenocortical disease + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879 + Familial isolated hyperparathyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 656283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 + Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 656279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 + 1p36.33 duplication syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880 + Hyperparathyroidism-jaw tumor syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 656313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656313 + Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 656300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300 + Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 656130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 + PBX1-related congenital anomalies of kidney-urinary tract syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 656126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 + Segmental spinal dysgenesis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 656135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 + Intellectual disability-cupped ears syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887 + Acute megakaryoblastic leukemia in children with Down syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 658540 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540 + 16q22 deletion syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 656912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912 + Autosomal dominant combined immunodeficiency due to ERBIN deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889 + Cushing syndrome due to ectopic ACTH secretion + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 658549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658549 + Idiopathic small fibers neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 656417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656417 + Embryonal tumor with multilayered rosettes + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 656326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326 + Autosomal recessive combined immunodeficiency due to IL6R deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 + Isolated permanent neonatal diabetes mellitus + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886 + Transient neonatal diabetes mellitus + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 653712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712 + CHD4-related neurodevelopmental disorder + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 653722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 + Digenic Alport syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 653725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653725 + Autosomal recessive limb-girdle muscular dystrophy, type 28 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865 + Spermatocytic seminoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 653728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 + Congenital insensitivity to pain syndrome, Marsili type + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860 + Precursor B-cell acute lymphoblastic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 653434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653434 + Autoinflammatory syndrome with acne and/or hidradenitis suppurativa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 653698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653698 + Lymphocytic mastitis + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 99861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861 + Precursor T-cell acute lymphoblastic leukemia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 653709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653709 + Cone rod dystrophy-short stature syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 656071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656071 + Atrophic papulosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 656085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656085 + Benign atrophic papulosis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 99868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99868 + Thymic carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 653751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653751 + X-linked combined immunodeficiency due to SASH3 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99867 + Thymoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 653767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767 + Jansen-de Vries syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 653880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880 + Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 99869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99869 + Thymic neuroendocrine carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 652519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652519 + Cleft palate-congenital heart defect-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 + Glycogen storage disease due to muscle beta-enolase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 652514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652514 + Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 652510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652510 + Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 652487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 + Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 + Genetic recurrent myoglobinuria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 650187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650187 + Rare peripheral precocious puberty in female + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 + Autosomal dominant myoglobinuria + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 650182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650182 + Genetic central precocious puberty + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 + Leukocyte adhesion deficiency type II + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 650102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650102 + Non-genetic central precocious puberty in male + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 + Leukocyte adhesion deficiency type III + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 99857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99857 + Secondary syringomyelia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 652681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652681 + Idiopathic subglottic stenosis + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 652678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678 + Primary inferior vena cava aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858 + Idiopathic syringomyelia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 652668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668 + Primary superior vena cava aneurysm + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856 + Primary syringomyelia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 652658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658 + Monomorphic epitheliotropic intestinal T-cell lymphoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 99853 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853 + Ovarioleukodystrophy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 652650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650 + Nodal T-follicular helper cell lymphoma, follicular type + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 652532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 + Adult-onset progressive leukoencephalopathy-early-onset deafness + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854 + Cree leukoencephalopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 652528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528 + Supernumerary kidney + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852 + Ravine syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 652522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 + Periodic fever-immunodeficiency-thrombocytopenia syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 99832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832 + Resistance to thyrotropin-releasing hormone syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99829 + Yellow fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99828 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99828 + Dengue fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99827 + Crimean-Congo hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 650092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650092 + Secondary central precocious puberty in male + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842 + Leukocyte adhesion deficiency type I + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 650097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650097 + Genetic central precocious puberty in male + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 650082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650082 + Secondary central precocious puberty in female + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 650087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650087 + Primary central precocious puberty in male + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 650070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650070 + Rare central precocious puberty in female + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 650077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650077 + Genetic central precocious puberty in female + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 650063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650063 + Rare central precocious puberty + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 99811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 + Neuronal intestinal pseudoobstruction + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 660017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660017 + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 660012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 + LIG4 syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 660021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 + Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 660053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660053 + Psittacosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 661526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661526 + MBD4-related tumor predisposition syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 661412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 + Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 662172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 + Phelan-McDermid syndrome due to SHANK3 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819 + Familial gestational hyperthyroidism + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 662169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 + Phelan-McDermid syndrome due to 22q13.3 deletion + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 + Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662175 + Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 + Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 662184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 + Congenital muscular dystrophy-cataract-intellectual disability syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99824 + Lassa fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 662198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662198 + Neurodevelopmental delay-intellectual disability-skeletal defects syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99825 + Nipah virus disease + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99826 + Marburg hemorrhagic fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 659707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659707 + Yersinia pseudotuberculosis infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 + Subcortical band heterotopia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659712 + Rare yersiniosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798 + Oligodontia + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 99797 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99797 + Anodontia + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 659744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659744 + Ocular surface squamous neoplasia + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 659756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659756 + Oroya fever + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 659759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659759 + Verruga peruana + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 + Hemimegalencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 + Wormian bones-micrognathia-abnormal dentition-progeroid syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 + Haddad syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 99806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 + Oculootodental syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 + Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 + PEHO-like syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 659908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659908 + Glanders + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 + Familial porencephaly + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 + Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 + Cohen-Gibson syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 + PRC-2 complex-related overgrowth spectrum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 658951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951 + Early-onset immune dysregulation due to DOCK11 complete deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 659626 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659626 + Single isolated optic neuritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 659609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 + Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 + Imagawa-Matsumoto syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 + Harderoporphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 99789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789 + Dentin dysplasia type I + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 659642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 + Rauch-Steindl syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659634 + Relapsing isolated optic neuritis + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 659702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 + Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 659698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 + Hepatic cutaneous porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 659694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 + Hepatic porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 99791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791 + Dentin dysplasia type II + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 659681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 + Erythropoietic porphyria + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 99792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792 + Dentin dysplasia-sclerotic bones syndrome + + + + 98026 + Rare odontologic disease + + + + Preferential parent + + + + + + 658584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658584 + Rowell syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 658590 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658590 + Eyelid sebaceous carcinoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 658574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658574 + Isolated pulmonary artery sling + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 658612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658612 + Non-transplant-related bronchiolitis obliterans + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 658778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 + COQ7-related distal hereditary motor neuropathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 658595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 + DNMT3A-related microcephalic dwarfism + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 658602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658602 + Transplant-related bronchiolitis obliterans + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 658813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 + Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 658843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 + Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 99772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 + Cleft velum + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 658805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805 + Greig cephalopolysyndactyly-contiguous gene syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 658810 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658810 + Atrophoderma of Pasini and Pierini + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 99771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771 + Bifid uvula + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 658917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658917 + Clonorchiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 658946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 + Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 658909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658909 + Fasciolopsiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 99776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776 + Mosaic trisomy 9 syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 658913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658913 + Paragonimiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 631073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631073 + Autosomal recessive spastic paraplegia type 82 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631076 + Autosomal recessive spastic paraplegia type 83 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631079 + Autosomal recessive spastic paraplegia type 84 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631082 + Autosomal recessive spastic paraplegia type 85 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631068 + Autosomal dominant spastic paraplegia type 80 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 + Spinocerebellar ataxia type 49 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 + Spinocerebellar ataxia type 48 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 + Spinocerebellar ataxia type 44 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631088 + Autosomal recessive spastic paraplegia type 87 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631085 + Autosomal recessive spastic paraplegia type 86 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 631251 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631251 + Cancer of unknown primary site + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 631248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 + Mitchell Syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 626609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626609 + Rare andrological tumor + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 634475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475 + Mosaic NF2-related schwannomatosis + + + + 98036 + Rare otorhinolaryngologic disease + + + + Preferential parent + + + + + + 634492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634492 + Mosaic schwannomatosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 634511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511 + Mosaic Legius syndrome + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 634518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634518 + Neurofibromatosis/schwannomatosis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 634461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634461 + Mosaic neurofibromatosis type 1 + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 633228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228 + Isolated proximal femoral focal deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 637064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064 + Isolated optic nerve aplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 637061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061 + Isolated optic nerve hypoplasia + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 636970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970 + Autosomal recessive myosin storage myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 636965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965 + Autosomal dominant myosin storage myopathy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 637051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637051 + Borna virus encephalitis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 637013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 + SMARCA2-related blepharophimosis-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 636945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636945 + Invasive candidiasis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 636941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 + Vascular Ehlers-Danlos-polymicrogyria syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 636955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636955 + Endemic pemphigus foliaceus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 636950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636950 + Glaucomatocyclitic crisis disease + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 641613 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641613 + Endogenous Cushing syndrome + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 641829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641829 + Neonatal compartment syndrome + + + + 98028 + Rare circulatory system disease + + + + Preferential parent + + + + + + 641496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641496 + Childhood-onset schizophrenia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 641390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641390 + PsAPASH syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 641396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641396 + Central nervous system tuberculosis + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 641380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380 + PAPASH syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 641385 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641385 + PASS syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 641375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375 + B-lymphoblastic leukemia/lymphoma with t(17;19) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 641368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368 + Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 641372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372 + B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 641353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353 + Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 641361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361 + Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 641343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641343 + Imprinting disorders + + + + 98053 + Rare genetic disease + + + + Preferential parent + + + + + + 641350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641350 + Immunotherapy induced hypophysitis + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 642976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 + Perrault syndrome type 2 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 642965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 + Autosomal recessive ataxia due to PEX2 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 642954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 + Autosomal recessive ataxia due to PEX16 deficiency + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 642945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 + Perrault syndrome type 1 + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 642788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642788 + Cushing syndrome due to cortisol-producing adrenocortical adenoma + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 642763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763 + Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 642747 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 + PUM1-related cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 642691 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691 + Fragile X-associated primary ovarian insufficiency + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 642675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 + CHD8 overgrowth syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 642671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671 + Familial hyperaldosteronism type IV + + + + 97978 + Rare endocrine disease + + + + Preferential parent + + + + + + 642099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 + Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 642085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 + EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 642071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 + Primary pulmonary vein stenosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 632603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 + Mesomelic dysplasia-digital anomalies-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 633021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 + SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 633024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 + SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 633004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 + KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 633014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014 + SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 633211 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211 + Preaxial digit brachydactyly-webbed fingers + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 633124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633124 + Invasive scopulariopsis infection + + + + 68416 + Rare infectious disease + + + + Preferential parent + + + + + + 633035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 + Intellectual disability-early-onset cataract-microcephaly syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 633028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 + CPE-related Prader-Willi-like syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 633099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 + PAICS deficiency + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 633076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 + Split cord malformation, composite type + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 615938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 + Spastic paraparesis-cataracts-speech delay syndrome + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 615943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615943 + Granuloma faciale + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 615986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 615970 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615970 + Chronic intervillositis of unknown etiology + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 615983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 615954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954 + Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 615964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964 + Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 617449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617449 + Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome + + + + 97966 + Rare ophthalmic disorder + + + + Preferential parent + + + + + + 617408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617408 + Classic eosinophilic pustular folliculitis + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 617440 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617440 + Painful legs and moving toes syndrome + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 617307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617307 + Rare disorder related to monochorionic twin pregnancy + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 617304 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617304 + Amniotic fluid embolism + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 617313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617313 + Rare disorder due to inadequate sharing of the placenta + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 617310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617310 + Rare disorder due to unbalanced inter-twin blood transfusion + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 617294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617294 + Twin anemia-polycythemia sequence + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 616874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616874 + Rare disorder without a determined diagnosis after full investigation + + + + + 617301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617301 + Selective intrauterine growth restriction + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 617297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617297 + Twin-reversed arterial perfusion sequence + + + + 96344 + Rare gynecologic or obstetric disease + + + + Preferential parent + + + + + + 621758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 + Fibrosis-neurodegeneration-cerebral angiomatosis syndrome + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 620371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 + Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 620368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 + EGF-related primary hypomagnesemia with intellectual disability + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 620363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 + Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 620217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620217 + Bartter syndrome type 1 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 620220 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220 + Bartter syndrome type 2 + + + + 93626 + Rare renal disease + + + + Preferential parent + + + + + + 620205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205 + Non-syndromic bicoronal and sagittal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212 + Non-syndromic pansynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192 + Non-syndromic metopic and sagittal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198 + Non-syndromic bicoronal and metopic craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178 + Non-syndromic bilambdoid craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186 + Non-syndromic unicoronal and sagittal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620152 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152 + Non-syndromic multisutural craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158 + Non-syndromic non-specific multisutural craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139 + Non-syndromic unifrontosphenoidal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620146 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146 + Non-syndromic unisquamosal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102 + Non-syndromic unicoronal craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113 + Non-syndromic unilambdoid craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 620096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096 + Non-syndromic unisutural craniosynostosis + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 624268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624268 + Non-specific autoimmune cerebellar ataxia without characteristic antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 624259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624259 + Non-specific autoimmune cerebellar ataxia with characteristic antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 624199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624199 + Non-specific autoimmune brainstem encephalitis with characteristic antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 624190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624190 + Paraneoplastic isolated brainstem encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 624244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624244 + Postinfectious cerebellitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 624216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624216 + Non-specific autoimmune brainstem encephalitis without characteristic antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 623789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623789 + Body integrity dysphoria + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 623801 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623801 + Acute flaccid myelitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 624166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624166 + Non-specific autoimmune supratentorial encephalitis with characteristic antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 624178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624178 + Non-specific autoimmune supratentorial encephalitis without characteristic antibodies + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 623615 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623615 + Autoimmune limbic encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 623626 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623626 + Paraneoplastic cerebellar degeneration + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 623638 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623638 + Immune-mediated cerebellar ataxia + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 623695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 + MIR140-related spondyloepiphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 622925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 + X-linked severe syndromic thoracic aortic aneurysm and dissection + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 622934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 + SBDS-related severe neonatal spondylometaphyseal dysplasia + + + + 93419 + Rare bone disease + + + + Preferential parent + + + + + + 622014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622014 + Autoimmune encephalitis + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 622099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622099 + Superior mesenteric artery syndrome + + + + 97935 + Rare gastroenterologic disease + + + + Preferential parent + + + + + + 622720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622720 + Genetic autoinflammatory syndrome with skin involvement + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 622914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622914 + Rare genetic nevus + + + + 89826 + Rare skin disease + + + + Preferential parent + + + + + + 618899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 + Acid sphingomyelinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 618891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 + Chronic neurovisceral acid sphingomyelinase deficiency + + + + 68367 + Rare inborn errors of metabolism + + + + Preferential parent + + + + + + 617910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617910 + Conjunctival malignant melanoma + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 617916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617916 + Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia + + + + 97955 + Rare respiratory disease + + + + Preferential parent + + + + + + 617919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919 + F12-associated cold autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 617930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617930 + Hemophilia B Leyden + + + + 97992 + Rare hematologic disease + + + + Preferential parent + + + + + + 619941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619941 + Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 619367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 + SAMD9L-associated autoinflammatory syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 619953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619953 + Familial hyperinflammatory lymphoproliferative immunodeficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 619948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948 + Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 619979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 + Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 619972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972 + CADINS disease + + + + 98004 + Rare immune disease + + + + Preferential parent + + + + + + 619249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619249 + Rare hereditary connective tissue disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 619284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619284 + Narcolepsy + + + + 98006 + Rare neurologic disease + + + + Preferential parent + + + + + + 619340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619340 + Inherited hematologic cancer-predisposing syndrome + + + + 250908 + Rare neoplastic disease + + + + Preferential parent + + + + + + 619363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 + NOCARH syndrome + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + + 619233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 + Hereditary persistence of fetal hemoglobin-intellectual disability syndrome + + + + 93890 + Rare developmental defect during embryogenesis + + + + Preferential parent + + + + + + 619238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619238 + Rare hereditary autoinflammatory disease + + + + 98023 + Rare systemic or rheumatologic disease + + + + Preferential parent + + + + + +