Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 506203 Orphanet classification of rare transplant-related disorders 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 Category 90053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90053 Complications after hematopoietic stem cell transplantation Particular clinical situation in a disease or syndrome 306644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306644 Complication after organ transplantation Particular clinical situation in a disease or syndrome 90073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073 Hepatitis B reinfection following liver transplantation Particular clinical situation in a disease or syndrome 163921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921 Posttransplant acute limbic encephalitis Particular clinical situation in a disease or syndrome 633124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633124 Invasive scopulariopsis infection Disease 506207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506207 Rare disorder potentially indicated for transplant Category 506225 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506225 Rare disorder potentially indicated for heart transplant Category 692305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 Triglyceride deposit cardiomyovasculopathy Disease 692296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 Idiopathic triglyceride deposit cardiomyovasculopathy Etiological subtype 565612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 Primary triglyceride deposit cardiomyovasculopathy Etiological subtype 247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 Inherited arrhythmogenic cardiomyopathy Clinical group 34217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 Naxos disease Disease 217656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 Inherited isolated arrhythmogenic cardiomyopathy Disease 293910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant Clinical subtype 293899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant Clinical subtype 293888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant Clinical subtype 371176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371176 Congenital disorder of glycosylation with dilated cardiomyopathy Category 91131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 DK1-CDG Disease 206554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 Fukutin-related limb-girdle muscular dystrophy R13 Disease 263494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 DPM3-CDG Disease 319646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 PGM1-CDG Disease 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 Disease 217616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Category 99901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 Acyl-CoA dehydrogenase 9 deficiency Disease 158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 Systemic primary carnitine deficiency Disease 217613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613 Mitochondrial disease with dilated cardiomyopathy Category 99718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 Leber plus disease Disease 137675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 Histiocytoid cardiomyopathy Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 Barth syndrome Disease 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre syndrome Disease 217610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610 Neuromuscular disease with dilated cardiomyopathy Category 262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 Duchenne and Becker muscular dystrophy Clinical group 98895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 Becker muscular dystrophy Disease 98896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 Duchenne muscular dystrophy Disease 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 Disease 62 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Disease 261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 Emery-Dreifuss muscular dystrophy Disease 98853 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 Autosomal dominant Emery-Dreifuss muscular dystrophy Etiological subtype 98863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 X-linked Emery-Dreifuss muscular dystrophy Etiological subtype 98855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 Autosomal recessive Emery-Dreifuss muscular dystrophy Etiological subtype 119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Disease 353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Disease 98909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 Desminopathy Disease 219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Disease 289377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 Early-onset myopathy with fatal cardiomyopathy Disease 397937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 Polyglucosan body myopathy type 1 Disease 206554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 Fukutin-related limb-girdle muscular dystrophy R13 Disease 324767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324767 Non-familial rare disease with dilated cardiomyopathy Category 183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 Eosinophilic granulomatosis with polyangiitis Disease 2119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 HEC syndrome Malformation syndrome 563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563 Peripartum cardiomyopathy Disease 217619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619 Syndrome associated with dilated cardiomyopathy Category 1493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 Vici syndrome Malformation syndrome 73224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 Kidney tubulopathy-dilated cardiomyopathy syndrome Disease 168796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 Heart-hand syndrome, Slovenian type Malformation syndrome 2229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Malformation syndrome 2515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 Microcephaly-cardiomyopathy syndrome Malformation syndrome 217622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 Sensorineural deafness with dilated cardiomyopathy Disease 79159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 Isobutyryl-CoA dehydrogenase deficiency Disease 476096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 Erythrokeratodermia-cardiomyopathy syndrome Disease 1345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 Cardiomyopathy-cataract-hip spine disease syndrome Disease 1606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 1p36 deletion syndrome Malformation syndrome 65282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 Carvajal syndrome Disease 64 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 Alström syndrome Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 66634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 Dilated cardiomyopathy with ataxia Disease 2663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 Nathalie syndrome Malformation syndrome 217569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217569 Rare hypertrophic cardiomyopathy Category 99739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739 Rare familial disorder with hypertrophic cardiomyopathy Category 217581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581 Lysosomal disease with hypertrophic cardiomyopathy Category 349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 Fucosidosis Disease 365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 Glycogen storage disease due to acid maltase deficiency Disease 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 Clinical subtype 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 Clinical subtype 93476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 Hurler-Scheie syndrome Clinical subtype 118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 Beta-mannosidosis Disease 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 Disease 217093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype 217085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 217572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572 Glycogen storage disease with hypertrophic cardiomyopathy Category 34587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 Danon disease Disease 366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 Glycogen storage disease due to glycogen debranching enzyme deficiency Disease 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 Disease 439854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Disease 365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 Glycogen storage disease due to acid maltase deficiency Disease 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 Clinical subtype 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 Clinical subtype 217587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587 Mitochondrial disease with hypertrophic cardiomyopathy Category 369913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 Combined oxidative phosphorylation defect type 17 Disease 444013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 Combined oxidative phosphorylation defect type 23 Disease 352563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Disease 1349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 Mitochondrial DNA-related cardiomyopathy and hearing loss Malformation syndrome 656279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 1p36.33 duplication syndrome Disease 570491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 QRSL1-related combined oxidative phosphorylation defect Disease 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 1369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Disease 496790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 99718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 Leber plus disease Disease 319678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Disease 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 Disease 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 Disease 457185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Disease 217591 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Category 746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 Mitochondrial trifunctional protein deficiency Disease 26793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 Very long chain acyl-CoA dehydrogenase deficiency Disease 99901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 Acyl-CoA dehydrogenase 9 deficiency Disease 159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 Carnitine-acylcarnitine translocase deficiency Disease 5 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Disease 26791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 Multiple acyl-CoA dehydrogenase deficiency Disease 394532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 Multiple acyl-CoA dehydrogenase deficiency, mild type Clinical subtype 394529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Clinical subtype 217595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595 Syndrome associated with hypertrophic cardiomyopathy Category 116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 Beckwith-Wiedemann syndrome Malformation syndrome 231127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Etiological subtype 96076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication Etiological subtype 231120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation Etiological subtype 231130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Etiological subtype 231117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Etiological subtype 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 Etiological subtype 98909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 Desminopathy Disease 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 Noonan syndrome with multiple lentigines Malformation syndrome 363972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Malformation syndrome 1340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 Cardiofaciocutaneous syndrome Malformation syndrome 95 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 Friedreich ataxia Disease 693647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome Disease 2701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 Noonan syndrome-like disorder with loose anagen hair Malformation syndrome 91130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome Disease 228012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Disease 3071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 Costello syndrome Malformation syndrome 399058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 Alpha-B crystallin-related late-onset myopathy Disease 273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 Steinert myotonic dystrophy Disease 589824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 Childhood-onset Steinert myotonic dystrophy Clinical subtype 589827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 Juvenile-onset Steinert myotonic dystrophy Clinical subtype 589830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 Adult-onset Steinert myotonic dystrophy Clinical subtype 589833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 Late-onset Steinert myotonic dystrophy Clinical subtype 589821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 Congenital-onset Steinert myotonic dystrophy Clinical subtype 217598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217598 Non-familial hypertrophic cardiomyopathy Category 1926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 Diabetic embryopathy Malformation syndrome 85443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 AL amyloidosis Disease 314701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 Primary systemic amyloidosis Clinical subtype 314709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 Primary localized amyloidosis Clinical subtype 85451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 ATTRV122I amyloidosis Clinical subtype 75249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 Familial isolated restrictive cardiomyopathy Disease 217638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638 Lysosomal disease with restrictive cardiomyopathy Category 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 Glycogen storage disease due to acid maltase deficiency Disease 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 Clinical subtype 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 Clinical subtype 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 77259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 Gaucher disease type 1 Clinical subtype 154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 Familial isolated dilated cardiomyopathy Disease 367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 Glycogen storage disease due to glycogen branching enzyme deficiency Disease 206583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 Adult polyglucosan body disease Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 2022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 Endocardial fibroelastosis Disease 506210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506210 Rare disorder potentially indicated for liver transplant Category 367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 Glycogen storage disease due to glycogen branching enzyme deficiency Disease 206583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 Adult polyglucosan body disease Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 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 Clinical subtype 271861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 Hereditary ATTR amyloidosis Disease 85447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 ATTRV30M amyloidosis Clinical subtype 85451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 ATTRV122I amyloidosis Clinical subtype 95157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 Acute hepatic porphyria Clinical group 79273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 Hereditary coproporphyria Disease 79276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 Acute intermittent porphyria Disease 79473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 Variegate porphyria Disease 100924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency Disease 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 Disease 52 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 Alagille syndrome Malformation syndrome 261600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 Alagille syndrome due to 20p12 microdeletion Etiological subtype 261619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 Alagille syndrome due to a JAG1 point mutation Etiological subtype 261629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 Alagille syndrome due to a NOTCH2 point mutation Etiological subtype 60 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 Alpha-1-antitrypsin deficiency Disease 2137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137 Autoimmune hepatitis Disease 563576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563576 Autoimmune hepatitis type 1 Clinical subtype 563581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563581 Autoimmune hepatitis type 2 Clinical subtype 563589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563589 Seronegative autoimmune hepatitis Clinical subtype 30391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 Isolated biliary atresia Morphological anomaly 244283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 Biliary atresia with splenic malformation syndrome Malformation syndrome 131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131 Budd-Chiari syndrome Disease 566841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841 Liver adenomatosis Disease 53035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 Caroli disease Malformation syndrome 480520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520 Caroli syndrome Malformation syndrome 480501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501 Choledochal cyst Morphological anomaly 95507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 Congenital anomaly of hepatic vein Morphological anomaly 480531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 Congenital portosystemic shunt Morphological anomaly 205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 Crigler-Najjar syndrome Disease 79234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 Crigler-Najjar syndrome type 1 Clinical subtype 79235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 Crigler-Najjar syndrome type 2 Clinical subtype 586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 Cystic fibrosis Disease 172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 Progressive familial intrahepatic cholestasis Disease 480483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 Progressive familial intrahepatic cholestasis type 4 Clinical subtype 480491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 MYO5B-related progressive familial intrahepatic cholestasis Clinical subtype 79304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 Progressive familial intrahepatic cholestasis type 2 Clinical subtype 79305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 Progressive familial intrahepatic cholestasis type 3 Clinical subtype 79306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 Progressive familial intrahepatic cholestasis type 1 Clinical subtype 168583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 Hereditary North American Indian childhood cirrhosis Clinical subtype 480476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 Progressive familial intrahepatic cholestasis type 5 Clinical subtype 163631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 Bile acid synthesis defect with cholestasis and malabsorption Category 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 276066 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 Bile acid CoA ligase deficiency and defective amidation Disease 238475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 Familial hypercholanemia Disease 485631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631 Congenital bile acid synthesis defect Clinical group 79095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 Congenital bile acid synthesis defect type 4 Disease 79301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 Congenital bile acid synthesis defect type 1 Disease 79302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 Congenital bile acid synthesis defect type 3 Disease 79303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 Congenital bile acid synthesis defect type 2 Disease 449 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449 Hepatoblastoma Disease 100085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085 Primary hepatic neuroendocrine carcinoma Disease 35063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35063 Fulminant viral hepatitis Disease 364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 Glycogen storage disease due to glucose-6-phosphatase deficiency Disease 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 Clinical subtype 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 Clinical subtype 890 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890 Hepatic veno-occlusive disease Disease 469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 Hereditary fructose intolerance Disease 480512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480512 Idiopathic ductopenia Disease 485426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426 Isolated congenital hepatic fibrosis Disease 2924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 Isolated polycystic liver disease Malformation syndrome 446 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 Neonatal hemochromatosis Disease 48372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372 Nodular regenerative hyperplasia of the liver Histopathological subtype 220489 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 Rare hereditary hemochromatosis Category 465508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 Symptomatic form of HFE-related hemochromatosis Disease 648569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569 Non-HFE-related hemochromatosis Clinical group 79230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 HJV or HAMP-related hemochromatosis Disease 225123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 TFR2-related hemochromatosis Disease 647834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 SLC40A1-related hemochromatosis Disease 648581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 Digenic hemochromatosis Disease 447771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447771 Sclerosing cholangitis Clinical group 171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171 Primary sclerosing cholangitis Disease 59303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 Neonatal ichthyosis-sclerosing cholangitis syndrome Disease 480556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 Isolated neonatal sclerosing cholangitis Disease 447774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774 Secondary sclerosing cholangitis Disease 447764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764 IgG4-related sclerosing cholangitis Clinical subtype 882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 Tyrosinemia type 1 Disease 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 79239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 Classic galactosemia Disease 330001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330001 Wild type ATTR amyloidosis Disease 389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 Langerhans cell histiocytosis Disease 687733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 Pulmonary Langerhans cell histiocytosis Clinical subtype 687741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 Multisystem Langerhans cell histiocytosis Clinical subtype 687738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 Single-system multifocal Langerhans cell histiocytosis Clinical subtype 687730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 Unifocal Langerhans cell histiocytosis Clinical subtype 158061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158061 Macrophage activation syndrome Clinical syndrome 186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186 Primary biliary cholangitis Disease 70567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567 Cholangiocarcinoma Disease 88673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673 Hepatocellular carcinoma Clinical group 33402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402 Pediatric hepatocellular carcinoma Disease 210159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159 Adult hepatocellular carcinoma Disease 401920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920 Fibrolamellar hepatocellular carcinoma Disease 424982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982 Biliary cystadenocarcinoma Disease 529852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852 Combined hepatocellular carcinoma and cholangiocarcinoma Disease 85443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 AL amyloidosis Disease 314701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 Primary systemic amyloidosis Clinical subtype 314709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 Primary localized amyloidosis Clinical subtype 85450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450 Hereditary amyloidosis with primary renal involvement Disease 93560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 AApoAI amyloidosis Clinical subtype 93561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 ALys amyloidosis Clinical subtype 238269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 AApoAII amyloidosis Clinical subtype 93562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 AFib amyloidosis Clinical subtype 300345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345 Autosomal systemic lupus erythematosus Disease 693846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693846 Hepatic arteriovenous malformation Malformation syndrome 699068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699068 Fontan-associated liver disease Disease 506213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506213 Rare disorder potentially indicated for kidney transplant Category 93605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605 Bartter syndrome type 3 Clinical subtype 320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 Apparent mineralocorticoid excess Disease 88659 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659 Autosomal dominant progressive nephropathy with hypertension Disease 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 Disease 306516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Disease 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 Clinical subtype 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 Clinical subtype 416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 Primary hyperoxaluria Disease 93600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 Primary hyperoxaluria type 3 Clinical subtype 93599 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 Primary hyperoxaluria type 2 Clinical subtype 93598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 Primary hyperoxaluria type 1 Clinical subtype 217071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217071 Renal cell carcinoma Clinical group 319303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319303 Chromophobe renal cell carcinoma Disease 404514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404514 Acquired cystic disease-associated renal cell carcinoma Disease 247203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247203 Collecting duct carcinoma Disease 319308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319308 MiT family translocation renal cell carcinoma Disease 319319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319319 Renal medullary carcinoma Disease 319276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319276 Clear cell renal carcinoma Disease 319287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319287 Multilocular cystic renal neoplasm of low malignant potential Histopathological subtype 404511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404511 Clear cell papillary renal cell carcinoma Histopathological subtype 319322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319322 Mucinous tubular and spindle cell renal carcinoma Disease 319298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319298 Papillary renal cell carcinoma Disease 319325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319325 Tubulocystic renal cell carcinoma Disease 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Williams syndrome Malformation syndrome 363534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Disease 534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 Oculocerebrorenal syndrome of Lowe Malformation syndrome 140969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 Saldino-Mainzer syndrome Disease 637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 Full NF2-related schwannomatosis Disease 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 Disease 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 Etiological subtype 97685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype 140976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 RHYNS syndrome Disease 1770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 XY type gonadal dysgenesis-associated anomalies syndrome Malformation syndrome 976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 Adenine phosphoribosyltransferase deficiency Disease 2665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2665 Congenital mesoblastic nephroma Disease 84 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 Fanconi anemia Malformation syndrome 526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526 Liddle syndrome Disease 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect Malformation syndrome 220497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 Joubert syndrome with renal defect Malformation syndrome 401996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996 Karyomegalic interstitial nephritis Disease 650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 LCAT deficiency Disease 79292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 Fish-eye disease Clinical subtype 79293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 Familial LCAT deficiency Clinical subtype 97366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366 Multiloculated renal cyst Morphological anomaly 654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654 Nephroblastoma Disease 655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655 Nephronophthisis Disease 93592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592 Juvenile nephronophthisis Clinical subtype 93589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589 Late-onset nephronophthisis Clinical subtype 93591 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591 Infantile nephronophthisis Clinical subtype 235936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936 Familial hyperaldosteronism Clinical group 251274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 Familial hyperaldosteronism type III Disease 642671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671 Familial hyperaldosteronism type IV Disease 403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 Familial hyperaldosteronism type I Disease 404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 Familial hyperaldosteronism type II Disease 411634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 Juvenile nephropathic cystinosis Clinical subtype 411629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 Infantile nephropathic cystinosis Clinical subtype 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 443988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 Ventriculomegaly-cystic kidney disease Disease 93546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546 Non-syndromic renal or urinary tract malformation Category 2260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 Oligomeganephronia Morphological anomaly 1851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 Multicystic dysplastic kidney Morphological anomaly 97363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 Unilateral multicystic dysplastic kidney Clinical subtype 97364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 Bilateral multicystic dysplastic kidney Clinical subtype 1309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 Medullary sponge kidney Morphological anomaly 93109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109 Congenital megacalycosis Morphological anomaly 93176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176 Unilateral congenital megacalycosis Clinical subtype 93177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177 Congenital bilateral megacalycosis Clinical subtype 238637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637 Megacystis-megaureter syndrome Disease 411709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709 Renal agenesis Morphological anomaly 1848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 Renal agenesis, bilateral Clinical subtype 93100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 Renal agenesis, unilateral Clinical subtype 322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 Exstrophy-epispadias complex Malformation syndrome 93929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 Cloacal exstrophy Clinical subtype 93930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 Classic bladder exstrophy Clinical subtype 93928 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 Isolated epispadias Clinical subtype 93108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108 Renal dysplasia Morphological anomaly 93172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 Renal dysplasia, unilateral Clinical subtype 93173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 Renal dysplasia, bilateral Clinical subtype 289365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 Familial vesicoureteral reflux Malformation syndrome 3033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033 Renal tubular dysgenesis Malformation syndrome 97368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368 Drug-related renal tubular dysgenesis Etiological subtype 97369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 Renal tubular dysgenesis of genetic origin Etiological subtype 97367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367 Renal tubular dysgenesis due to twin-twin transfusion Etiological subtype 237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 Duplication of urethra Morphological anomaly 435365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365 Fetal lower urinary tract obstruction Clinical group 2970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 Prune belly syndrome Malformation syndrome 93110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 Posterior urethral valve Morphological anomaly 435372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 Anterior urethral valve Morphological anomaly 105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 Atresia of urethra Morphological anomaly 617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 Congenital primary megaureter Morphological anomaly 238642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 Primary megaureter, adult-onset form Clinical subtype 238646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 Congenital primary megaureter, obstructed form Clinical subtype 238650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 Congenital primary megaureter, refluxing form Clinical subtype 238654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 Congenital primary megaureter, nonrefluxing and unobstructed form Clinical subtype 544578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 Congenital primary megaureter, refluxing and obstructed form Clinical subtype 93101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101 Renal hypoplasia Morphological anomaly 97362 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 Renal hypoplasia, bilateral Clinical subtype 97361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361 Renal hypoplasia, unilateral Clinical subtype 435743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 Congenital urachal anomaly Category 431341 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 Patent urachus Morphological anomaly 431344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 Urachal sinus Morphological anomaly 431347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 Urachal diverticulum Morphological anomaly 488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 Urachal cyst Morphological anomaly 652528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528 Supernumerary kidney Morphological anomaly 93547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 Syndromic renal or urinary tract malformation Category 3015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 Radio-renal syndrome Malformation syndrome 881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 Turner syndrome Malformation syndrome 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 Monosomy X syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome Etiological subtype 99413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 Turner syndrome due to structural X chromosome anomalies Etiological subtype 289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 Ellis Van Creveld syndrome Malformation syndrome 887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 VACTERL/VATER association Malformation syndrome 2052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 Fraser syndrome Malformation syndrome 1834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 Axial mesodermal dysplasia spectrum Malformation syndrome 2186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 Hydrocephalus-blue sclerae-nephropathy syndrome Malformation syndrome 672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 Pallister-Hall syndrome Malformation syndrome 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 2838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 Renal caliceal diverticuli-deafness syndrome Malformation syndrome 798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 Schinzel-Giedion syndrome Malformation syndrome 217266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 BNAR syndrome Malformation syndrome 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 Rubinstein-Taybi syndrome Malformation syndrome 353277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 Rubinstein-Taybi syndrome due to CREBBP mutations Etiological subtype 353281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Etiological subtype 353284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Etiological subtype 107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome Malformation syndrome 564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 Meckel syndrome Malformation syndrome 1973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 Faciocardiorenal syndrome Malformation syndrome 2669 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 Nephrosis-deafness-urinary tract-digital malformations syndrome Malformation syndrome 2697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 Arthrogryposis-renal dysfunction-cholestasis syndrome Malformation syndrome 1192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Malformation syndrome 373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 Simpson-Golabi-Behmel syndrome Malformation syndrome 955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 Hajdu-Cheney syndrome Malformation syndrome 971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 Acrorenal syndrome Malformation syndrome 2111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111 Cystic hamartoma of lung and kidney Disease 2241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome Malformation syndrome 1475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 Renal coloboma syndrome Malformation syndrome 2774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 Multicentric carpo-tarsal osteolysis with or without nephropathy Malformation syndrome 3411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 Double uterus-hemivagina-renal agenesis syndrome Malformation syndrome 818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 Smith-Lemli-Opitz syndrome Malformation syndrome 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 Malformation syndrome 893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 WAGR syndrome Malformation syndrome 195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 Cat-eye syndrome Malformation syndrome 52 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 Alagille syndrome Malformation syndrome 261600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 Alagille syndrome due to 20p12 microdeletion Etiological subtype 261619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 Alagille syndrome due to a JAG1 point mutation Etiological subtype 261629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 Alagille syndrome due to a NOTCH2 point mutation Etiological subtype 3027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 Caudal regression syndrome Malformation syndrome 1133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 AREDYLD syndrome Malformation syndrome 1896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 EEC syndrome Malformation syndrome 2237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome Malformation syndrome 2673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 Neurofaciodigitorenal syndrome Malformation syndrome 2704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 Urofacial syndrome Malformation syndrome 2820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 Spastic paraplegia-nephritis-deafness syndrome Clinical syndrome 3316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 Thomas syndrome Malformation syndrome 1756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 Caudal duplication Malformation syndrome 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 Trisomy 18 syndrome Malformation syndrome 1064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 Aniridia-renal agenesis-psychomotor retardation syndrome Malformation syndrome 2256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome Malformation syndrome 2278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Malformation syndrome 3032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 NPHP3-related Meckel-like syndrome Malformation syndrome 3404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 Ulbright-Hodes syndrome Malformation syndrome 500095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 Tall stature-intellectual disability-renal anomalies syndrome Malformation syndrome 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 3326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 Thymic-renal-anal-lung dysplasia Malformation syndrome 71273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273 Renal nutcracker syndrome Disease 500135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Malformation syndrome 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 Beckwith-Wiedemann syndrome Malformation syndrome 231127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Etiological subtype 96076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication Etiological subtype 231120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation Etiological subtype 231130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Etiological subtype 231117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Etiological subtype 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 Etiological subtype 3109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 Mayer-Rokitansky-Küster-Hauser syndrome Malformation syndrome 2578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Clinical subtype 247775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Clinical subtype 3327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327 Thyrocerebrorenal syndrome Malformation syndrome 508488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 8q24.3 microdeletion syndrome Malformation syndrome 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 Trisomy 13 syndrome Malformation syndrome 3186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 Holoprosencephaly-radial heart renal anomalies syndrome Malformation syndrome 439897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Malformation syndrome 521438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 Congenital vertebral-cardiac-renal anomalies syndrome Malformation syndrome 93111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease Clinical subtype 592574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 Menke-Hennekam syndrome Malformation syndrome 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 Malformation syndrome 656130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 PBX1-related congenital anomalies of kidney-urinary tract syndrome Disease 689822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 Structural heart defects-renal anomalies syndrome Malformation syndrome 294415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 Renal-hepatic-pancreatic dysplasia Malformation syndrome 3156 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 Senior-Loken syndrome Disease 18 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 Distal renal tubular acidosis Disease 93608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608 Autosomal dominant distal renal tubular acidosis Clinical subtype 93610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 Distal renal tubular acidosis with anemia Clinical subtype 402041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 Autosomal recessive distal renal tubular acidosis Clinical subtype 84081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081 Senior-Boichis syndrome Disease 528105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome Disease 94088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088 Hereditary renal hypouricemia Malformation syndrome 93921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 Full schwannomatosis Disease 730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 Autosomal dominant polycystic kidney disease Disease 758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 Pseudoxanthoma elasticum Disease 474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 Jeune syndrome Malformation syndrome 3337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 Primary Fanconi renotubular syndrome Disease 243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 46,XX gonadal dysgenesis Malformation syndrome 2138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 46,XX ovotesticular difference of sex development Malformation syndrome 393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 46,XX testicular difference of sex development Malformation syndrome 242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 46,XY complete gonadal dysgenesis Malformation syndrome 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 Category 755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 Leydig cell hypoplasia Disease 325448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 Leydig cell hypoplasia due to LHB deficiency Clinical subtype 96265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 Leydig cell hypoplasia due to complete LH resistance Clinical subtype 96266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 Leydig cell hypoplasia due to partial LH resistance Clinical subtype 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 Category 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 Category 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 Disease 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 Disease 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 Category 818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 Smith-Lemli-Opitz syndrome Malformation syndrome 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 Category 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 Disease 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 Disease 90793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Disease 90790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 Congenital lipoid adrenal hyperplasia due to STAR deficency Disease 325524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype 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 Clinical subtype 95699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Disease 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 Clinical subtype 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 Category 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 Disease 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 Category 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 Disease 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 Category 168563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Malformation syndrome 325345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 46,XY ovotesticular difference of sex development Disease 251510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 46,XY partial gonadal dysgenesis Malformation syndrome 165704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704 Non-syndromic urogenital tract malformation Category 182117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117 Non-syndromic urogenital tract malformation of female Category 180065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065 Non-syndromic uterovaginal malformation Category 73217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217 Müllerian aplasia Clinical group 180068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068 Partial bilateral aplasia of the Müllerian ducts Clinical group 3109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 Mayer-Rokitansky-Küster-Hauser syndrome Malformation syndrome 2578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Clinical subtype 247775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Clinical subtype 247768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 Müllerian aplasia and hyperandrogenism Malformation syndrome 180071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071 Unilateral aplasia of the Müllerian ducts Clinical group 180074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074 True unicornuate uterus Morphological anomaly 180079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079 Pseudounicornuate uterus Morphological anomaly 180122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 Septate uterus Clinical group 180126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 Complete septate uterus Morphological anomaly 180129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 Partial septate uterus Morphological anomaly 180134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134 Bicornuate uterus Clinical group 180086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086 Didelphys uterus Morphological anomaly 180106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106 Bicervical bicornuate uterus and blind hemivagina Clinical subtype 180111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111 Bicervical bicornuate uterus with patent cervix and vagina Clinical subtype 180114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114 Unicervical bicornuate uterus Morphological anomaly 180139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139 Uterine hypoplasia Morphological anomaly 180142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 Absence of uterine body Morphological anomaly 180145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 Uterine cervical aplasia and agenesis Morphological anomaly 1916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 Diethylstilbestrol syndrome Malformation syndrome 180151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 Rare vaginal malformation Category 65681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 Vaginal atresia Morphological anomaly 96269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 Isolated partial vaginal agenesis Morphological anomaly 180154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 Septate vagina Morphological anomaly 180160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 Transverse vaginal septum Clinical subtype 180157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 Longitudinal vaginal septum Clinical subtype 603515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515 Isolated female hypospadias Morphological anomaly 182121 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121 Non-syndromic urogenital tract malformation of male Category 49 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 Penile agenesis Morphological anomaly 95707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707 Idiopathic isolated micropenis Morphological anomaly 495879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879 Congenital agenesis of the scrotum Morphological anomaly 696897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696897 Congenital megaprepuce Morphological anomaly 95706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 Non-syndromic posterior hypospadias Morphological anomaly 227 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 Diphallia Morphological anomaly 48 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 Congenital bilateral absence of vas deferens Morphological anomaly 2842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 Penoscrotal transposition Morphological anomaly 182124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124 Non-syndromic urogenital tract malformation of male and female Category 435743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 Congenital urachal anomaly Category 431341 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 Patent urachus Morphological anomaly 431344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 Urachal sinus Morphological anomaly 431347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 Urachal diverticulum Morphological anomaly 488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 Urachal cyst Morphological anomaly 322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 Exstrophy-epispadias complex Malformation syndrome 93929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 Cloacal exstrophy Clinical subtype 93930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 Classic bladder exstrophy Clinical subtype 93928 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 Isolated epispadias Clinical subtype 435365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365 Fetal lower urinary tract obstruction Clinical group 2970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 Prune belly syndrome Malformation syndrome 93110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 Posterior urethral valve Morphological anomaly 435372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 Anterior urethral valve Morphological anomaly 105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 Atresia of urethra Morphological anomaly 237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 Duplication of urethra Morphological anomaly 617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 Congenital primary megaureter Morphological anomaly 238642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 Primary megaureter, adult-onset form Clinical subtype 238646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 Congenital primary megaureter, obstructed form Clinical subtype 238650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 Congenital primary megaureter, refluxing form Clinical subtype 238654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 Congenital primary megaureter, nonrefluxing and unobstructed form Clinical subtype 544578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 Congenital primary megaureter, refluxing and obstructed form Clinical subtype 289365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 Familial vesicoureteral reflux Malformation syndrome 91136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome Disease 2666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666 Adult familial nephronophthisis-spastic quadriparesia syndrome Disease 64 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 Alström syndrome Disease 1031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 Enamel-renal syndrome Malformation syndrome 34149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149 Autosomal dominant tubulointerstitial kidney disease Disease 88949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Clinical subtype 88950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 UMOD-related autosomal dominant tubulointerstitial kidney disease Clinical subtype 93111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease Clinical subtype 217330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 REN-related autosomal dominant tubulointerstitial kidney disease Clinical subtype 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 Disease 300547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 Autosomal recessive infantile hypercalcemia Disease 731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 Autosomal recessive polycystic kidney disease Disease 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 89938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 Bartter syndrome type 4 Clinical subtype 1380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380 Cataract-nephropathy-encephalopathy syndrome Malformation syndrome 457246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246 Clear cell sarcoma of kidney Disease 97598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598 Congenital renal artery stenosis Disease 1515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 Cranioectodermal dysplasia Malformation syndrome 214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 Cystinuria Disease 93612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 Cystinuria type A Etiological subtype 93613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 Cystinuria type B Etiological subtype 1652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 Dent disease Disease 93623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 Dent disease type 2 Clinical subtype 93622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 Dent disease type 1 Clinical subtype 244305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease 1276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 Brachydactyly-arterial hypertension syndrome Malformation syndrome 757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757 Pseudohypoaldosteronism type 2 Disease 300525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 Pseudohypoaldosteronism type 2D Etiological subtype 300530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 Pseudohypoaldosteronism type 2E Etiological subtype 88938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938 Pseudohypoaldosteronism type 2A Etiological subtype 88939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 Pseudohypoaldosteronism type 2B Etiological subtype 88940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 Pseudohypoaldosteronism type 2C Etiological subtype 404476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome Malformation syndrome 363694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Disease 238517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 Hypotonia-cystinuria type 1 syndrome Clinical group 163690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 Hypotonia-cystinuria syndrome Disease 163693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 2p21 microdeletion syndrome Disease 238523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 Atypical hypotonia-cystinuria syndrome Disease 206428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency Clinical group 510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 Lesch-Nyhan syndrome Disease 79233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency Disease 2197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197 Idiopathic hypercalciuria Disease 54057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54057 Thrombotic thrombocytopenic purpura Disease 93585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93585 Immune-mediated thrombotic thrombocytopenic purpura Clinical subtype 93583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 Congenital thrombotic thrombocytopenic purpura Clinical subtype 424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 Familial hyperthyroidism due to mutations in TSH receptor Disease 544458 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544458 Hemolytic uremic syndrome Clinical group 544482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544482 Infection-related hemolytic uremic syndrome Disease 90038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90038 Shiga toxin-associated hemolytic uremic syndrome Clinical subtype 544493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome Clinical subtype 2134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 Atypical hemolytic uremic syndrome Disease 93581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies Etiological subtype 544472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 Atypical hemolytic uremic syndrome with complement gene abnormality Etiological subtype 357008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 Hemolytic uremic syndrome with DGKE deficiency Disease 79282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 Methylmalonic acidemia with homocystinuria, type cblC Clinical subtype 882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 Tyrosinemia type 1 Disease 28 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 Vitamin B12-responsive methylmalonic acidemia Disease 308442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Clinical subtype 79310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 Vitamin B12-responsive methylmalonic acidemia type cblA Clinical subtype 79311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 Vitamin B12-responsive methylmalonic acidemia type cblB Clinical subtype 27 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 Vitamin B12-unresponsive methylmalonic acidemia Disease 289916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 Clinical subtype 79312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- Clinical subtype 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome Disease 544628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome Disease 93548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93548 Glomerular disease Category 34145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34145 Immunoglobulin A nephropathy Disease 329481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 Lipoprotein glomerulopathy Disease 544590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544590 Collagen-related glomerular basement membrane disease Category 63 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 Alport syndrome Disease 1018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 X-linked Alport syndrome-diffuse leiomyomatosis Clinical subtype 88917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 X-linked Alport syndrome Clinical subtype 88919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 Autosomal recessive Alport syndrome Clinical subtype 653722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 Digenic Alport syndrome Clinical subtype 88918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 Autosomal dominant Alport syndrome Clinical subtype 73229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 HANAC syndrome Disease 567554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567554 Systemic disease with glomerulopathy as a major feature Category 567556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567556 Genetic systemic disease with glomerulopathy as a major feature Category 85450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450 Hereditary amyloidosis with primary renal involvement Disease 93560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 AApoAI amyloidosis Clinical subtype 93561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 ALys amyloidosis Clinical subtype 238269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 AApoAII amyloidosis Clinical subtype 93562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 AFib amyloidosis Clinical subtype 444092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 Autoimmune interstitial lung disease-arthritis syndrome Disease 342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 Familial Mediterranean fever Disease 575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 Muckle-Wells syndrome Disease 36412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 Hypocomplementemic urticarial vasculitis Disease 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 Category 732 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732 Polymyositis Disease 93568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568 Juvenile polymyositis Disease 221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221 Dermatomyositis Disease 645617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617 Amyopathic dermatomyositis Clinical subtype 645626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626 Adermatopathic dermatomyositis Clinical subtype 645613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613 Classical dermatomyositis Clinical subtype 93672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672 Juvenile dermatomyositis Disease 117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 Behçet disease Disease 797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 Sarcoidosis Disease 90291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291 Systemic sclerosis Disease 220402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402 Limited cutaneous systemic sclerosis Clinical subtype 220407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407 Limited systemic sclerosis Clinical subtype 220393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393 Diffuse cutaneous systemic sclerosis Clinical subtype 85445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445 AA amyloidosis Disease 449395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449395 IgG4-related kidney disease Clinical subtype 809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809 Mixed connective tissue disease Disease 829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=829 Adult-onset Still disease Disease 779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 Reynolds syndrome Disease 439232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439232 AApoAIV amyloidosis Disease 85443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 AL amyloidosis Disease 314701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 Primary systemic amyloidosis Clinical subtype 314709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 Primary localized amyloidosis Clinical subtype 442582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442582 AH amyloidosis Disease 86861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861 Non-amyloid monoclonal immunoglobulin deposition disease Disease 93556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556 Heavy chain deposition disease Clinical subtype 93557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557 Light and heavy chain deposition disease Clinical subtype 93558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558 Light chain deposition disease Clinical subtype 567560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567560 Systemic vasculitis associated with glomerulopathy Category 536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536 Systemic lupus erythematosus Disease 183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 Eosinophilic granulomatosis with polyangiitis Disease 728 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728 Relapsing polychondritis Disease 397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397 Giant cell arteritis Disease 727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 Microscopic polyangiitis Disease 761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761 Immunoglobulin A vasculitis Disease 767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767 Polyarteritis nodosa Disease 439746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746 Secondary polyarteritis nodosa Clinical subtype 439737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737 Primary polyarteritis nodosa Clinical subtype 439729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729 Cutaneous polyarteritis nodosa Clinical subtype 439762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762 Systemic polyarteritis nodosa Clinical subtype 439755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755 Single-organ polyarteritis nodosa Clinical subtype 900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 Granulomatosis with polyangiitis Disease 3287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3287 Takayasu arteritis Disease 93126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93126 Pauci-immune glomerulonephritis Disease 97564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97564 Pauci-immune glomerulonephritis without ANCA Clinical subtype 97563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97563 Pauci-immune glomerulonephritis with ANCA Clinical subtype 375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375 Anti-glomerular basement membrane disease Disease 91138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138 Cryoglobulinemic vasculitis Disease 93555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555 Mixed cryoglobulinemia type III Etiological subtype 93554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554 Mixed cryoglobulinemia type II Etiological subtype 36258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36258 Buerger disease Disease 93552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 Pediatric systemic lupus erythematosus Disease 86818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Disease 567564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567564 Nephrotic syndrome without extrarenal manifestations Category 564127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564127 Genetic nephrotic syndrome Clinical group 656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 Hereditary steroid-resistant nephrotic syndrome Disease 839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 Congenital nephrotic syndrome, Finnish type Disease 357502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357502 Idiopathic nephrotic syndrome Clinical group 567548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567548 Idiopathic steroid-resistant nephrotic syndrome Clinical syndrome 567550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567550 Idiopathic multidrug-resistant nephrotic syndrome Clinical subtype 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 Clinical subtype 567546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance Clinical syndrome 69061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061 Idiopathic steroid-sensitive nephrotic syndrome Clinical syndrome 567544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567544 Idiopathic non-lupus full-house nephropathy Clinical syndrome 567562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567562 Disorder with multisystemic involvement and glomerulopathy Category 2614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 Nail-patella syndrome Malformation syndrome 1830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 Schimke immuno-osseous dysplasia Disease 2065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 Galloway-Mowat syndrome Malformation syndrome 2613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 Nail-patella-like renal disease Disease 2670 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 Pierson syndrome Malformation syndrome 2715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 Severe oculo-renal-cerebellar syndrome Malformation syndrome 220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 Denys-Drash syndrome Disease 347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 Frasier syndrome Disease 300333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Disease 306504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Disease 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 Disease 69735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Disease 93114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Disease 280406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness Disease 506334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Disease 163696 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 Action myoclonus-renal failure syndrome Disease 182050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 MYH9-related syndromic thrombocytopenia Disease 97560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560 Primary membranous glomerulonephritis Disease 54370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370 Primary membranoproliferative glomerulonephritis Disease 329903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis Clinical subtype 329918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918 C3 glomerulopathy Clinical subtype 93571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571 Dense deposit disease Histopathological subtype 329931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931 C3 glomerulonephritis Histopathological subtype 84090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090 Fibronectin glomerulopathy Disease 84087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84087 Collagen type III glomerulopathy Disease 91137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91137 Immunotactoid or fibrillary glomerulopathy Clinical group 97566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97566 Non-amyloid fibrillary glomerulopathy Disease 97567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97567 Immunotactoid glomerulopathy Disease 693839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693839 Renal arteriovenous malformation Malformation syndrome 620371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation Disease 620217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620217 Bartter syndrome type 1 Clinical subtype 620220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220 Bartter syndrome type 2 Clinical subtype 506216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506216 Rare disorder potentially indicated for bowel transplant Category 294422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422 Chronic intestinal failure Clinical syndrome 104007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 Congenital enteropathy involving intestinal mucosa development Category 2290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 Microvillus inclusion disease Disease 83620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 Enteric anendocrinosis Disease 92050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 Congenital tufting enteropathy Disease 103910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 Congenital enterocyte heparan sulfate deficiency Disease 313906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906 Congenital pancreatic cyst Morphological anomaly 468635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 Cryptogenic multifocal ulcerous stenosing enteritis Disease 104010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 Intestinal polyposis syndrome Clinical group 261584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 5q22 microdeletion syndrome Disease 247798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 MUTYH-related polyposis Disease 447877 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 Polymerase proofreading-related polyposis Disease 454840 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 NTHL1-related polyposis Disease 480536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 MSH3-related polyposis Disease 733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 Familial adenomatous polyposis Disease 2869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 Peutz-Jeghers syndrome Disease 201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 Cowden syndrome Clinical subtype 2929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 Juvenile polyposis syndrome Disease 329971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 Generalized juvenile polyposis/juvenile polyposis coli Clinical subtype 79076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 Juvenile polyposis of infancy Clinical subtype 109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 Bannayan-Riley-Ruvalcaba syndrome Clinical subtype 2930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 Cronkhite-Canada syndrome Disease 157794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 Hereditary mixed polyposis syndrome Disease 157798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 Serrated polyposis syndrome Disease 220460 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 Attenuated familial adenomatous polyposis Disease 401911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 AXIN2-related polyposis Disease 104009 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 Rare disease involving intestinal motility Category 388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 Hirschsprung disease Disease 897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 Waardenburg-Shah syndrome Disease 1876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 Oculogastrointestinal muscular dystrophy Disease 2150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 Hirschsprung disease-type D brachydactyly syndrome Malformation syndrome 2153 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Malformation syndrome 2155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 Hirschsprung disease-deafness-polydactyly syndrome Malformation syndrome 2241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome Malformation syndrome 2978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 Chronic intestinal pseudoobstruction syndrome Clinical syndrome 99811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 Neuronal intestinal pseudoobstruction Etiological subtype 104077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 Myopathic intestinal pseudoobstruction Etiological subtype 104078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 Unclassified intestinal pseudoobstruction Etiological subtype 2151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 Hirschsprung disease-ganglioneuroblastoma syndrome Malformation syndrome 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 66629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 Goldberg-Shprintzen megacolon syndrome Malformation syndrome 99803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 Haddad syndrome Malformation syndrome 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 Disease 314373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity Disease 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 Disease 2604 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 Familial visceral myopathy Disease 104012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104012 Rare inflammatory bowel disease Category 717851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717851 Rare non-syndromic inflammatory bowel disease Clinical group 103908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 Congenital sodium diarrhea Disease 468641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 Chronic enteropathy associated with SLCO2A1 gene Disease 597201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 TRIM22-related inflammatory bowel disease Disease 477661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 IL21-related infantile inflammatory bowel disease Disease 597887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 ALPI-related inflammatory bowel disease Disease 714410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714410 CARD8-related inflammatory bowel disease Disease 714481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714481 SCGN-related severe early-onset hereditary ulcerative colitis Disease 714484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714484 AGR2-related infantile-onset inflammatory bowel disease Disease 714490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714490 PERCC1-related congenital intractable malabsorptive diarrhea Disease 53689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 Congenital chloride diarrhea Disease 717862 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717862 Rare disorder with inflammatory bowel disease Category 717865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717865 Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease Category 314373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity Disease 714487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714487 Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome Disease 84064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 Trichohepatoenteric syndrome Disease 92050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 Congenital tufting enteropathy Disease 2881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881 Cutaneous photosensitivity-lethal colitis syndrome Disease 717757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717757 Rare immune disease with inflammatory bowel disease Category 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 Disease 714496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714496 Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome Disease 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 Disease 714493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714493 Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency Disease 714472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714472 Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome Disease 717868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717868 Rare skin disease with inflammatory bowel disease Category 717871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717871 Rare systemic or rheumatologic diseases with inflammatory bowel disease Category 717874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717874 Rare inborn error of metabolism with inflammatory bowel disease Category 717877 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717877 Rare miscellaneous disease with inflammatory bowel disease Category 104011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011 Rare tumor of intestine Category 423793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793 Rare tumor of small intestine Category 423798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798 Mesenchymal tumor of small intestine Category 44890 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 Gastrointestinal stromal tumor Disease 104076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076 Leiomyosarcoma of small intestine Disease 652658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658 Monomorphic epitheliotropic intestinal T-cell lymphoma Disease 425368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368 Rare epithelial tumor of small intestine Category 423975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975 Neuroendocrine tumor of the small intestine Category 100077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077 Jejunal neuroendocrine tumor Category 97283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 Somatostatinoma Disease 100078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078 Ileal neuroendocrine tumor Disease 100076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076 Duodenal neuroendocrine tumor Category 97283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 Somatostatinoma Disease 913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 Zollinger-Ellison syndrome Disease 423957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957 Rare carcinoma of small intestine Category 104075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075 Adenocarcinoma of the small intestine Disease 423968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968 Squamous cell carcinoma of the small intestine Disease 86880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880 Enteropathy-associated T-cell lymphoma Disease 423982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982 Epithelial tumor of the appendix Category 100079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079 Neuroendocrine neoplasm of appendix Disease 329977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977 Classic neuroendocrine tumor of appendix Clinical subtype 329984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984 Goblet cell carcinoma Clinical subtype 391723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723 Mucinous adenocarcinoma of the appendix Disease 423991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991 Rare epithelial tumor of colon Category 423994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994 Squamous cell carcinoma of the colon Disease 100080 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080 Neuroendocrine tumor of the colon Disease 423998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423998 Rare epithelial tumor of rectum Category 100081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081 Neuroendocrine tumor of the rectum Disease 424002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002 Squamous cell carcinoma of the rectum Disease 424010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010 Epithelial tumor of anal canal Category 100082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082 Neuroendocrine tumor of anal canal Disease 424013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013 Carcinoma of the anal canal Clinical group 424016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016 Adenocarcinoma of the anal canal Disease 424019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019 Squamous cell carcinoma of the anal canal Disease 104008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008 Short bowel syndrome Clinical group 95427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427 Secondary short bowel syndrome Disease 365563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365563 Primary short bowel syndrome Clinical group 1201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 Small bowel atresia Morphological anomaly 2301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 Congenital short bowel syndrome Morphological anomaly 2368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 Gastroschisis Morphological anomaly 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 Category 101351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 Familial isolated congenital asplenia Morphological anomaly 2040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 Congenital respiratory-biliary fistula Morphological anomaly 101063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 Situs inversus totalis Morphological anomaly 157769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 Situs ambiguus Morphological anomaly 457083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083 Isolated splenogonadal fusion Morphological anomaly 693869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693869 Gallblader arteriovenous malformation Malformation syndrome 53035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 Caroli disease Malformation syndrome 2805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 Partial pancreatic agenesis Morphological anomaly 675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675 Annular pancreas Morphological anomaly 674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674 Accessory pancreas Morphological anomaly 30391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 Isolated biliary atresia Morphological anomaly 662388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662388 Isolated gallbladder duplication Morphological anomaly 688523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688523 Splenic venous malformation Disease 693863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863 Splenic arteriovenous malformation Malformation syndrome 693826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826 Pancreatic arteriovenous malformation Malformation syndrome 168807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168807 Primary malignant peritoneal tumor Category 26790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26790 Pseudomyxoma peritonei Disease 168829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168829 Primary peritoneal carcinoma Disease 83469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83469 Desmoplastic small round cell tumor Disease 168811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168811 Malignant peritoneal mesothelioma Disease 676036 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676036 Peritoneal mesothelioma in situ Disease 104003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 Congenital intestinal transport defect Category 469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 Hereditary fructose intolerance Disease 35710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 Glucose-galactose malabsorption Disease 53689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 Congenital chloride diarrhea Disease 103908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 Congenital sodium diarrhea Disease 563708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 Syndromic congenital sodium diarrhea Disease 73014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014 Intractable diarrhea of infancy Category 2290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 Microvillus inclusion disease Disease 103908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 Congenital sodium diarrhea Disease 563708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 Syndromic congenital sodium diarrhea Disease 329242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 Congenital chronic diarrhea with protein-losing enteropathy Disease 1670 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 Chronic diarrhea with villous atrophy Disease 92050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 Congenital tufting enteropathy Disease 137622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome Malformation syndrome 522037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037 Primary autoimmune enteropathy Disease 522043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 Syndromic autoimmune enteropathy Clinical group 37042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Disease 436159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Disease 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 Disease 169100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 Immunodeficiency due to CD25 deficiency Disease 438159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 STAT3-related early-onset multisystem autoimmune disease Disease 220465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 Laron syndrome with immunodeficiency Disease 228426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 Syndromic multisystem autoimmune disease due to Itch deficiency Disease 3453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 Autoimmune polyendocrinopathy type 1 Disease 445018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 Syndromic autoimmune enteropathy due to LRBA deficiency Disease 84064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 Trichohepatoenteric syndrome Disease 96346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346 Anorectal malformation Category 117573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573 Syndromic anorectal malformation Category 1834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 Axial mesodermal dysplasia spectrum Malformation syndrome 93293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 Okihiro syndrome Malformation syndrome 261638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 Okihiro syndrome due to 20q13 microdeletion Etiological subtype 261647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 Okihiro syndrome due to a point mutation Etiological subtype 96176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176 Ring chromosome 13 syndrome Malformation syndrome 857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 Townes-Brocks syndrome Malformation syndrome 1590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 Distal deletion 13q syndrome Malformation syndrome 83628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 LUMBAR syndrome Malformation syndrome 93929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 Cloacal exstrophy Clinical subtype 96185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185 Maternal uniparental disomy of chromosome 16 syndrome Malformation syndrome 217266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 BNAR syndrome Malformation syndrome 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 3412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 VACTERL with hydrocephalus Malformation syndrome 444941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941 Caudal regression-sirenomelia spectrum Clinical group 3169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 Sirenomelia Malformation syndrome 1768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 Familial caudal dysgenesis Malformation syndrome 3027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 Caudal regression syndrome Malformation syndrome 2322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 Kabuki syndrome Malformation syndrome 2408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 Lowe-Kohn-Cohen syndrome Malformation syndrome 2745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 Opitz GBBB syndrome Malformation syndrome 870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 Down syndrome Malformation syndrome 195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 Cat-eye syndrome Malformation syndrome 887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 VACTERL/VATER association Malformation syndrome 1436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 X-linked skeletal dysplasia-intellectual disability syndrome Malformation syndrome 2556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 Microphthalmia with linear skin defects syndrome Malformation syndrome 2578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Clinical subtype 2973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 46,XX difference of sex development-anorectal anomalies syndrome Malformation syndrome 75857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 6q terminal deletion syndrome Malformation syndrome 93271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 Short rib-polydactyly syndrome, Verma-Naumoff type Malformation syndrome 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 Trisomy 13 syndrome Malformation syndrome 2052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 Fraser syndrome Malformation syndrome 1552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 Currarino syndrome Malformation syndrome 782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 Axenfeld-Rieger syndrome Malformation syndrome 140952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome Malformation syndrome 2345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 Isolated Klippel-Feil syndrome Malformation syndrome 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 Trisomy 18 syndrome Malformation syndrome 884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 Pallister-Killian syndrome Malformation syndrome 1225 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 Baller-Gerold syndrome Malformation syndrome 1756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 Caudal duplication Malformation syndrome 672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 Pallister-Hall syndrome Malformation syndrome 2315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 Johanson-Blizzard syndrome Malformation syndrome 3138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 Ulnar-mammary syndrome Malformation syndrome 93932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 FG syndrome type 1 Disease 496751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 EVEN-plus syndrome Malformation syndrome 1305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 Feingold syndrome Malformation syndrome 391641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 Feingold syndrome type 1 Clinical subtype 391646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 Feingold syndrome type 2 Clinical subtype 611201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 Oculogastrointestinal-neurodevelopmental syndrome Malformation syndrome 93270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 Short rib-polydactyly syndrome, Saldino-Noonan type Malformation syndrome 557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557 Non-syndromic anorectal malformation Clinical group 600952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600952 Non-syndromic perineal fistula Morphological anomaly 600961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600961 Non-syndromic rectourethral fistula Morphological anomaly 600966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600966 Non-syndromic rectourethral fistula, bulbar type Clinical subtype 600975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600975 Non-syndromic rectourethral fistula, prostatic type Clinical subtype 600984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600984 Non-syndromic rectovesical fistula Morphological anomaly 600993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600993 Non-syndromic vestibular fistula Morphological anomaly 600998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600998 Non-syndromic cloacal malformation Morphological anomaly 601002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601002 Non-syndromic anorectal malformation without fistula Morphological anomaly 601008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601008 Non-syndromic anal stenosis Morphological anomaly 601013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601013 Non-syndromic pouch colon Morphological anomaly 601018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601018 Non-syndromic rectal atresia Morphological anomaly 601023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601023 Non-syndromic rectal stenosis Morphological anomaly 601028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601028 Non-syndromic rectovaginal fistula Morphological anomaly 601033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601033 Non-syndromic H-type fistula Morphological anomaly 71274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71274 Disseminated peritoneal leiomyomatosis Disease 97945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97945 Intestinal malformation Category 108967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967 Non-syndromic intestinal malformation Category 2300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300 Isolated multiple intestinal atresia Morphological anomaly 2301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 Congenital short bowel syndrome Morphological anomaly 1201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 Small bowel atresia Morphological anomaly 1198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 Colonic atresia Morphological anomaly 508410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410 Familial intestinal malrotation Morphological anomaly 662456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662456 Isolated small intestine duplication Morphological anomaly 662473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662473 Isolated duodenal duplication Clinical subtype 662480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662480 Isolated jejuno-ileal duplication Clinical subtype 662392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662392 Isolated colonic duplication Morphological anomaly 1203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203 Duodenal atresia Morphological anomaly 108969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969 Syndromic intestinal malformation Category 557866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557866 Rare disorder with Hirschsprung disease as a major feature Category 2155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 Hirschsprung disease-deafness-polydactyly syndrome Malformation syndrome 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 66629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 Goldberg-Shprintzen megacolon syndrome Malformation syndrome 99803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 Haddad syndrome Malformation syndrome 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 Disease 897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 Waardenburg-Shah syndrome Disease 2150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 Hirschsprung disease-type D brachydactyly syndrome Malformation syndrome 2152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 Mowat-Wilson syndrome Malformation syndrome 261552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 Mowat-Wilson syndrome due to a ZEB2 point mutation Etiological subtype 261537 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 Mowat-Wilson syndrome due to monosomy 2q22 Etiological subtype 2153 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Malformation syndrome 2464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464 Marfanoid syndrome, De Silva type Malformation syndrome 1759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759 Thoraco-abdominal enteric duplication Malformation syndrome 3405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405 Umbilical cord ulceration-intestinal atresia syndrome Malformation syndrome 293864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Malformation syndrome 527468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 Diaphragmatic hernia-short bowel-asplenia syndrome Malformation syndrome 506307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 Stromme syndrome Malformation syndrome 436252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 Combined immunodeficiency-multiple intestinal atresia Disease 506219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506219 Rare disorder potentially indicated for hematopoietic stem cell transplant Category 171895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171895 Myeloid hemopathy Category 519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519 Acute myeloid leukemia Clinical group 98277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98277 Acute myeloid leukemia with recurrent genetic anomaly Category 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) Disease 98831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98831 Acute myeloid leukemia with 11q23 abnormalities Disease 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 Disease 319480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 Acute myeloid leukemia with CEBPA somatic mutations Disease 402017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402017 Acute myeloid leukemia with t(9;11)(p22;q23) Disease 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) Disease 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 Disease 402026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402026 Acute myeloid leukemia with NPM1 somatic mutations Disease 402014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402014 Acute myeloid leukemia with t(6;9)(p23;q34) Disease 520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520 Acute promyelocytic leukemia Disease 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) Disease 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) Disease 86845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86845 Acute myeloid leukaemia with myelodysplasia-related features Disease 86846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome Category 164726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation Disease 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 Disease 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 Disease 167714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167714 Unclassified acute myeloid leukemia Category 518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=518 Acute megakaryoblastic leukemia Disease 329469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329469 Acute megakaryoblastic leukemia in children without Down syndrome Clinical subtype 662934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662934 Acute megakaryoblastic leukemia in adult Clinical subtype 99887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99887 Acute megakaryoblastic leukemia in children with Down syndrome Clinical subtype 517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=517 Acute myelomonocytic leukemia Disease 318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=318 Acute erythroid leukemia Disease 514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514 Acute monoblastic/monocytic leukemia Disease 98832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98832 Acute myeloid leukemia with minimal differentiation Disease 86843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86843 Acute panmyelosis with myelofibrosis Disease 86850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86850 Myeloid sarcoma Disease 98833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98833 Acute myeloblastic leukemia without maturation Disease 98834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98834 Acute myeloblastic leukemia with maturation Disease 86849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86849 Acute basophilic leukemia Disease 319465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 Inherited acute myeloid leukemia Disease 86851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86851 Acute leukemia of ambiguous lineage Category 98835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98835 Acute undifferentiated leukemia Disease 530995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530995 Mixed phenotype acute leukemia Disease 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) Etiological subtype 589595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589595 Mixed phenotype acute leukemia with t(v;11q23.3) Etiological subtype 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 Category 168950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement Disease 589542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement Disease 168947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Disease 168953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Disease 52688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52688 Myelodysplastic syndrome Clinical group 86841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Disease 495930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495930 Familial monosomy 7 syndrome Disease 86839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86839 Myelodysplastic neoplasm with increased blasts Disease 100020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100020 Myelodysplastic neoplasm with increased blasts type 2 Clinical subtype 100019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100019 Myelodysplastic neoplasm with increased blasts type 1 Clinical subtype 168960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168960 Refractory anemia with excess blasts in transformation Disease 86836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86836 Refractory cytopenia with multilineage dysplasia Clinical group 98827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98827 Unclassified myelodysplastic syndrome Disease 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 Disease 98826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98826 Myelodysplastic neoplasm with low blasts Disease 75564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75564 Acquired idiopathic sideroblastic anemia Disease 98274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98274 Myeloproliferative neoplasm Clinical group 168956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168956 Hypereosinophilic syndrome Clinical group 314962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314962 Secondary hypereosinophilic syndrome Disease 314970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314970 Lymphocytic hypereosinophilic syndrome Clinical subtype 3260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3260 Idiopathic hypereosinophilic syndrome Disease 314950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314950 Primary hypereosinophilic syndrome Disease 521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521 Chronic myeloid leukemia Disease 824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 Primary myelofibrosis Disease 3318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3318 Essential thrombocythemia Disease 86830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86830 Chronic myeloproliferative disease, unclassifiable Disease 480851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 Hereditary thrombocytopenia with early-onset myelofibrosis Disease 168940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168940 Chronic eosinophilic leukemia Disease 420611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420611 Transient myeloproliferative syndrome Disease 729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=729 Polycythemia vera Disease 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 Disease 86829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86829 Chronic neutrophilic leukemia Disease 488280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280 14q32 duplication syndrome Disease 98275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98275 Myelodysplastic/myeloproliferative disease Clinical group 98824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98824 Atypical chronic myeloid leukemia Disease 98825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98825 Unclassified myelodysplastic/myeloproliferative disease Disease 98823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98823 Chronic myelomonocytic leukemia Disease 86834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86834 Juvenile myelomonocytic leukemia Disease 98813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 Hypohidrotic ectodermal dysplasia with immunodeficiency Disease 158038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158038 Primary hemophagocytic lymphohistiocytosis Clinical group 664482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664482 Primary hemophagocytic lymphohistiocytosis without hypopigmentation Category 540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 Familial hemophagocytic lymphohistiocytosis Disease 470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 Lysinuric protein intolerance Disease 619363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 NOCARH syndrome Disease 331249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation Category 183678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 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 Clinical subtype 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 79477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 Griscelli syndrome type 2 Clinical subtype 101987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987 Congenital neutropenia Category 331184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331184 Syndrome with congenital neutropenia as a major feature Category 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 Disease 423384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 Severe congenital neutropenia due to JAGN1 deficiency Disease 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 Disease 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 Disease 652522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome Disease 369852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome Disease 693647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome Disease 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 Clinical subtype 111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 Barth syndrome Disease 221046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 Poikiloderma with neutropenia Disease 193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 Cohen syndrome Malformation syndrome 2390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390 Lichtenstein syndrome Disease 331176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 Severe congenital neutropenia due to G6PC3 deficiency Disease 811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 Shwachman-Diamond syndrome Disease 169142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 Recurrent infections due to specific granule deficiency Disease 2690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 Neutropenia-monocytopenia-deafness syndrome Disease 90023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency Disease 183678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Hermansky-Pudlak syndrome due to AP-3 deficiency Clinical subtype 664500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency Clinical subtype 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 Clinical subtype 42738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738 Severe congenital neutropenia Clinical group 86788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788 X-linked severe congenital neutropenia Disease 486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 Autosomal dominant severe congenital neutropenia Disease 439849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439849 Autosomal recessive severe congenital neutropenia Category 420702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Disease 99749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 Kostmann syndrome Disease 331176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331176 Severe congenital neutropenia due to G6PC3 deficiency Disease 420699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Disease 423384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423384 Severe congenital neutropenia due to JAGN1 deficiency Disease 2686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 Cyclic neutropenia Disease 169090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090 Combined immunodeficiency due to CRAC channel dysfunction Disease 317430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317430 Combined immunodeficiency due to STIM1 deficiency Clinical subtype 317428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317428 Combined immunodeficiency due to ORAI1 deficiency Clinical subtype 221139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 Combined immunodeficiency with facio-oculo-skeletal anomalies Disease 436252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 Combined immunodeficiency-multiple intestinal atresia Disease 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 Category 505227 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505227 Combined immunodeficiency due to GINS1 deficiency Disease 125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 Bloom syndrome Disease 420741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 RIDDLE syndrome Malformation syndrome 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 240760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 Nijmegen breakage syndrome-like disorder Malformation syndrome 2268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 ICF syndrome Malformation syndrome 647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 Nijmegen breakage syndrome Malformation syndrome 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 Disease 169355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355 Immunodeficiency syndrome with autoimmunity Category 699590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699590 Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency Disease 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 Disease 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 Disease 688594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 Combined immunodeficiency due to RELB deficiency Disease 3261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 Autoimmune lymphoproliferative syndrome Disease 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 Disease 268114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 RAS-associated autoimmune leukoproliferative disease Disease 169100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 Immunodeficiency due to CD25 deficiency Disease 228426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 Syndromic multisystem autoimmune disease due to Itch deficiency Disease 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 Disease 275523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523 Dianzani autoimmune lymphoproliferative disease Disease 436159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Disease 438159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 STAT3-related early-onset multisystem autoimmune disease Disease 37042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Disease 306550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 FADD-related immunodeficiency Disease 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 Disease 3453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 Autoimmune polyendocrinopathy type 1 Disease 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 Category 183666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666 Hyper-IgM syndrome without susceptibility to opportunistic infections Disease 101092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 Hyper-IgM syndrome type 5 Clinical subtype 101091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091 Hyper-IgM syndrome type 4 Clinical subtype 101089 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 Hyper-IgM syndrome type 2 Clinical subtype 252202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 Constitutional mismatch repair deficiency syndrome Disease 480549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480549 Non-severe combined immunodeficiency Clinical group 99812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 LIG4 syndrome Disease 431149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 Combined immunodeficiency due to OX40 deficiency Disease 324294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324294 T-cell immunodeficiency with epidermodysplasia verruciformis Disease 157949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 Combined immunodeficiency with granulomatosis Disease 169085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation Disease 317476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 XMEN Disease 464336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464336 BENTA disease Disease 228000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000 Idiopathic CD4 lymphocytopenia Biological anomaly 760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 Purine nucleoside phosphorylase deficiency Disease 572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 Immunodeficiency by defective expression of MHC class II Disease 653751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653751 X-linked combined immunodeficiency due to SASH3 deficiency Disease 676039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676039 Combined immunodeficiency due to FOXN1 haploinsufficiency Disease 647804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647804 Combined immunodeficiency due to FCHO1 deficiency Disease 688571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688571 Combined immunodeficiency with low immunoglobulins and normal B cells Clinical group 695191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695191 Late-onset combined immunodeficiency due to ICOSL deficiency Disease 692812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome Disease 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 Disease 697394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697394 Combined immunodeficiency due to c-REL deficiency Disease 699578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699578 Combined immunodeficiency with low Ig due to BCL10 deficiency Disease 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 Disease 697389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697389 Combined immunodeficiency due to HELIOS deficiency Disease 697385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697385 Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency Disease 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 Clinical subtype 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 Clinical subtype 695183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695183 Late-onset combined immunodeficiency due to ICOS deficiency Disease 397787 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 Combined immunodeficiency due to IKBKB deficiency Disease 183663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 Hyper-IgM syndrome with susceptibility to opportunistic infections Disease 101088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 X-linked hyper-IgM syndrome Clinical subtype 101090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 Hyper-IgM syndrome type 3 Clinical subtype 447737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 Combined immunodeficiency due to DOCK2 deficiency Disease 357237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 Combined immunodeficiency due to CARD11 deficiency Disease 476113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 Combined immunodeficiency due to TFRC deficiency Disease 357329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 Combined immunodeficiency due to IL21R deficiency Disease 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 Clinical group 397964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 Combined immunodeficiency due to MALT1 deficiency Disease 688594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 Combined immunodeficiency due to RELB deficiency Disease 695164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695164 Combined immunodeficiency with low B cells and hypogammaglobulinemia Category 700205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700205 Combined immunodeficiency due to IKBKB gain-of-function mutation Disease 217390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 Combined immunodeficiency due to DOCK8 deficiency Disease 695172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695172 Combined immunodeficiency due to dimerization defective IKAROS mutation Disease 477661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 IL21-related infantile inflammatory bowel disease Disease 447731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447731 NIK deficiency Disease 314689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314689 Combined immunodeficiency due to STK4 deficiency Disease 39041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 Omenn syndrome Disease 504530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504530 Combined immunodeficiency due to Moesin deficiency Disease 238505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 Combined immunodeficiency due to CD27 deficiency Disease 169082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 Combined immunodeficiency due to CD3gamma deficiency Disease 34592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592 Immunodeficiency by defective expression of MHC class I Disease 169079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 Cernunnos-XLF deficiency Disease 538958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 EBV-induced lymphoproliferative disease due to CD70 deficiency Disease 911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 Combined immunodeficiency due to ZAP70 deficiency Disease 231154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154 Combined immunodeficiency due to partial RAG1 deficiency Disease 397959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 TCR-alpha-beta-positive T-cell deficiency Disease 542301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 EBV-induced lymphoproliferative disease due to CARMIL2 deficiency Disease 538963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 Combined immunodeficiency due to ITK deficiency Disease 445018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 Syndromic autoimmune enteropathy due to LRBA deficiency Disease 596759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 Combined immunodeficiency due to RELA haploinsufficiency Disease 183660 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660 Severe combined immunodeficiency Clinical group 317419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317419 T-B- severe combined immunodeficiency Clinical group 280142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 Combined immunodeficiency due to LCK deficiency Disease 275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275 Severe combined immunodeficiency due to DCLRE1C deficiency Disease 33355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 Reticular dysgenesis Disease 935 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935 Short-limb skeletal dysplasia with severe combined immunodeficiency Disease 317425 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317425 Severe combined immunodeficiency due to DNA-PKcs deficiency Disease 688543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 Reticular dysgenesis-like severe combined immunodeficiency Disease 277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 Severe combined immunodeficiency due to adenosine deaminase deficiency Disease 331206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency Disease 317416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317416 T-B+ severe combined immunodeficiency Clinical group 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 Disease 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 Disease 228003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 Severe combined immunodeficiency due to CORO1A deficiency Disease 504523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504523 Severe combined immunodeficiency due to LAT deficiency Disease 35078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency Disease 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 Disease 169095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 Severe combined immunodeficiency due to FOXN1 deficiency Disease 137631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Disease 169157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 T-B+ severe combined immunodeficiency due to CD45 deficiency Disease 397802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397802 T+ B+ severe combined immunodeficiency Clinical group 420573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 Severe combined immunodeficiency due to CTPS1 deficiency Disease 906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 Wiskott-Aldrich syndrome Disease 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 Disease 309810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation Category 79095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 Congenital bile acid synthesis defect type 4 Disease 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 35706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 Glutaric acidemia type 3 Disease 926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 Acatalasemia Disease 93598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 Primary hyperoxaluria type 1 Clinical subtype 79188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188 Peroxisomal beta-oxidation disorder Category 2971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 Peroxisomal acyl-CoA oxidase deficiency Disease 300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 Bifunctional enzyme deficiency Disease 163684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome Disease 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy Disease 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 182040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040 Rare aplastic anemia Category 164823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823 Rare acquired aplastic anemia Category 824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 Primary myelofibrosis Disease 88 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88 Idiopathic aplastic anemia Disease 98421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421 Primary acquired red cell aplasia Clinical group 98872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872 Primary acquired pure red cell aplasia Disease 98871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871 Transient erythroblastopenia of childhood Disease 447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 Paroxysmal nocturnal hemoglobinuria Disease 68383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383 Rare constitutional aplastic anemia Category 811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 Shwachman-Diamond syndrome Disease 3088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 Revesz syndrome Malformation syndrome 397692 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 Hereditary isolated aplastic anemia Disease 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita Disease 3319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 Congenital amegakaryocytic thrombocytopenia Disease 314399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 Autosomal dominant aplasia and myelodysplasia Disease 3322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 Hoyeraal-Hreidarsson syndrome Disease 124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 Diamond-Blackfan anemia Disease 84 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 Fanconi anemia Malformation syndrome 3466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 WT limb-blood syndrome Disease 401764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764 Pancytopenia-developmental delay syndrome Disease 611216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 Aplastic anemia-intellectual disability-dwarfism syndrome Disease 171898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171898 Lymphoid hemopathy Category 300324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300324 Persistent polyclonal B-cell lymphocytosis Disease 98282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98282 Plasma cell tumor Category 2905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 POEMS syndrome Disease 29073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073 Multiple myeloma Disease 86861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86861 Non-amyloid monoclonal immunoglobulin deposition disease Disease 93556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93556 Heavy chain deposition disease Clinical subtype 93557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93557 Light and heavy chain deposition disease Clinical subtype 93558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93558 Light chain deposition disease Clinical subtype 85443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 AL amyloidosis Disease 314701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 Primary systemic amyloidosis Clinical subtype 314709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 Primary localized amyloidosis Clinical subtype 86855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855 Plasmacytoma Disease 100021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021 Primary plasmacytoma of the bone Clinical subtype 100022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022 Extramedullary soft tissue plasmacytoma Clinical subtype 86864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86864 Heavy chain disease Disease 100025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100025 Alpha-heavy chain disease Clinical subtype 100024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100024 Mu-heavy chain disease Clinical subtype 100026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100026 Gamma-heavy chain disease Clinical subtype 454714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454714 Plasma cell leukemia Disease 160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160 Castleman disease Disease 93685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93685 Unicentric Castleman disease Clinical subtype 570438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570438 HHV-8-associated multicentric Castleman disease Clinical subtype 570431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570431 Idiopathic multicentric Castleman disease Clinical subtype 223735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223735 Lymphoma Category 168966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168966 Composite lymphoma Disease 547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=547 Non-Hodgkin lymphoma Category 513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513 Acute lymphoblastic leukemia Clinical group 99860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99860 Precursor B-cell acute lymphoblastic leukemia Disease 585877 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality Etiological subtype 641375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375 B-lymphoblastic leukemia/lymphoma with t(17;19) Etiological subtype 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) Etiological subtype 585918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) Etiological subtype 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) Etiological subtype 585936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy Etiological subtype 585942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy Etiological subtype 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) Etiological subtype 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) Etiological subtype 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) Etiological subtype 99861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99861 Precursor T-cell acute lymphoblastic leukemia Disease 171915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171915 B-cell non-Hodgkin lymphoma Category 300842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300842 Indolent B-cell non-Hodgkin lymphoma Category 33226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226 Waldenström macroglobulinemia Disease 58017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58017 Classic hairy cell leukemia Disease 67038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67038 B-cell chronic lymphocytic leukemia Disease 178557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 Indolent primary cutaneous B-cell lymphoma Clinical group 178536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 Primary cutaneous marginal zone B-cell lymphoma Disease 178540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 Primary cutaneous follicle center lymphoma Disease 300878 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300878 Hairy cell leukemia variant Disease 300912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300912 Marginal zone lymphoma Clinical group 52417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52417 MALT lymphoma Disease 86854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86854 Splenic marginal zone lymphoma Disease 86867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86867 Nodal marginal zone B-cell lymphoma Disease 300869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300869 Splenic diffuse red pulp small B-cell lymphoma Disease 443159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443159 Lymphoplasmacytic lymphoma without IgM production Disease 545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=545 Follicular lymphoma Disease 300846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300846 Aggressive B-cell non-Hodgkin lymphoma Category 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 Disease 543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543 Burkitt lymphoma Disease 544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544 Diffuse large B-cell lymphoma Clinical group 98838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98838 Primary mediastinal large B-cell lymphoma Disease 98839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98839 Intravascular large B-cell lymphoma Disease 86869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86869 Lymphomatoid granulomatosis Disease 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 Disease 300857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300857 T-cell/histiocyte rich large B cell lymphoma Disease 300888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300888 Diffuse large B-cell lymphoma with chronic inflammation Disease 364043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364043 ALK-positive large B-cell lymphoma Disease 289661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma Disease 48686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48686 Primary effusion lymphoma Disease 52416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52416 Mantle cell lymphoma Disease 86852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86852 B-cell prolymphocytic leukemia Disease 178554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 Aggressive primary cutaneous B-cell lymphoma Clinical group 178544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 Primary cutaneous diffuse large B-cell lymphoma, leg type Disease 289666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289666 Plasmablastic lymphoma Disease 171918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171918 T-cell non-Hodgkin lymphoma Category 86880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880 Enteropathy-associated T-cell lymphoma Disease 86886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86886 Angioimmunoblastic T-cell lymphoma Disease 86882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86882 Hepatosplenic T-cell lymphoma Disease 98841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98841 Anaplastic large cell lymphoma Disease 300903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300903 ALK-negative anaplastic large cell lymphoma Histopathological subtype 300895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300895 ALK-positive anaplastic large cell lymphoma Histopathological subtype 667662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667662 Breast implant-associated anaplastic large cell lymphoma Disease 652658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658 Monomorphic epitheliotropic intestinal T-cell lymphoma Disease 86870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86870 Blastic plasmacytoid dendritic cell neoplasm Disease 86871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86871 T-cell prolymphocytic leukemia Disease 171901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 Primary cutaneous T-cell lymphoma Category 178548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 Indolent primary cutaneous T-cell lymphoma Clinical group 541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 Primary cutaneous CD30+ T-cell lymphoproliferative disease Clinical group 300865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 Primary cutaneous anaplastic large cell lymphoma Disease 98842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 Lymphomatoid papulosis Disease 86884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 Subcutaneous panniculitis-like T-cell lymphoma Disease 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 Disease 178566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 Mycosis fungoides and variants Clinical group 2584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 Classic mycosis fungoides Disease 33111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 Granulomatous slack skin Disease 178512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 Folliculotropic mycosis fungoides Disease 178517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 Localized pagetoid reticulosis Disease 178551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 Aggressive primary cutaneous T-cell lymphoma Clinical group 3162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 Sézary syndrome Disease 86875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875 Adult T-cell leukemia/lymphoma Disease 86879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879 Extranodal nasal NK/T cell lymphoma Disease 86885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified Disease 178528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Disease 178533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 Primary cutaneous gamma/delta-positive T-cell lymphoma Disease 364039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364039 Hydroa vacciniforme-like lymphoma Disease 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 Disease 70568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568 Post-transplant lymphoproliferative disease Disease 512034 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512034 Large granular lymphocyte leukemia Clinical group 86872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86872 T-cell large granular lymphocyte leukemia Disease 86873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86873 Aggressive NK-cell leukemia Disease 512017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512017 Chronic lymphoproliferative disorder of natural killer cells Disease 652650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652650 Nodal T-follicular helper cell lymphoma, follicular type Disease 98293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98293 Hodgkin lymphoma Clinical group 391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391 Classic Hodgkin lymphoma Disease 98846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98846 Classic Hodgkin lymphoma, lymphocyte-depleted type Histopathological subtype 98844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98844 Classic Hodgkin lymphoma, mixed cellularity type Histopathological subtype 98843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98843 Classic Hodgkin lymphoma, nodular sclerosis type Histopathological subtype 98845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98845 Classic Hodgkin lymphoma, lymphocyte-rich type Histopathological subtype 86893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86893 Nodular lymphocyte predominant Hodgkin lymphoma Disease 279911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279911 Primary organ-specific lymphoma Category 2420 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2420 Primary pulmonary lymphoma Disease 542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542 Primary cutaneous lymphoma Category 178563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563 Primary cutaneous B-cell lymphoma Category 178554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554 Aggressive primary cutaneous B-cell lymphoma Clinical group 178544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544 Primary cutaneous diffuse large B-cell lymphoma, leg type Disease 178557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557 Indolent primary cutaneous B-cell lymphoma Clinical group 178536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536 Primary cutaneous marginal zone B-cell lymphoma Disease 178540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540 Primary cutaneous follicle center lymphoma Disease 171901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901 Primary cutaneous T-cell lymphoma Category 178548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548 Indolent primary cutaneous T-cell lymphoma Clinical group 541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541 Primary cutaneous CD30+ T-cell lymphoproliferative disease Clinical group 300865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865 Primary cutaneous anaplastic large cell lymphoma Disease 98842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842 Lymphomatoid papulosis Disease 86884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884 Subcutaneous panniculitis-like T-cell lymphoma Disease 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 Disease 178566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566 Mycosis fungoides and variants Clinical group 2584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584 Classic mycosis fungoides Disease 33111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111 Granulomatous slack skin Disease 178512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512 Folliculotropic mycosis fungoides Disease 178517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517 Localized pagetoid reticulosis Disease 178551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551 Aggressive primary cutaneous T-cell lymphoma Clinical group 3162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162 Sézary syndrome Disease 86875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875 Adult T-cell leukemia/lymphoma Disease 86879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879 Extranodal nasal NK/T cell lymphoma Disease 86885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified Disease 178528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Disease 178533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533 Primary cutaneous gamma/delta-positive T-cell lymphoma Disease 279897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897 Primary oculocerebral lymphoma Disease 314684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314684 Primary bone lymphoma Disease 319667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319667 Primary lymphoma of the conjunctiva Disease 97285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285 Thyroid lymphoma Disease 46135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135 Primary central nervous system lymphoma Disease 268114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 RAS-associated autoimmune leukoproliferative disease Disease 98290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98290 Immunodeficiency-associated lymphoproliferative disease Category 70568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70568 Post-transplant lymphoproliferative disease Disease 98291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98291 Lymphoproliferative disease associated with primary immune disease Category 86904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86904 Methotrexate-associated lymphoproliferative disorders Disease 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 Disease 3261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 Autoimmune lymphoproliferative syndrome Disease 98287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98287 Histiocytic and dendritic cell tumor Category 98288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98288 Macrophage or histiocytic tumor Category 86896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86896 Histiocytic sarcoma Disease 98289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98289 Dendritic cell tumor Category 86903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86903 Dendritic cell sarcoma not otherwise specified Disease 86900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86900 Interdigitating dendritic cell sarcoma Disease 158019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019 Indeterminate cell histiocytosis Disease 389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 Langerhans cell histiocytosis Disease 687733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687733 Pulmonary Langerhans cell histiocytosis Clinical subtype 687741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687741 Multisystem Langerhans cell histiocytosis Clinical subtype 687738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687738 Single-system multifocal Langerhans cell histiocytosis Clinical subtype 687730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687730 Unifocal Langerhans cell histiocytosis Clinical subtype 86897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86897 Langerhans cell sarcoma Disease 658951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658951 Early-onset immune dysregulation due to DOCK11 complete deficiency Disease 79213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 Mucopolysaccharidosis Category 662216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 Mucopolysaccharidosis type 10 Disease 579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 Mucopolysaccharidosis type 1 Disease 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 93476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 Hurler-Scheie syndrome Clinical subtype 93474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 Scheie syndrome Clinical subtype 582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 Mucopolysaccharidosis type 4 Disease 309297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 Mucopolysaccharidosis type 4A Clinical subtype 309310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 Mucopolysaccharidosis type 4B Clinical subtype 67041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 Hyaluronidase deficiency Disease 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 Disease 217093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype 217085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype 581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Mucopolysaccharidosis type 3 Disease 79272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 Sanfilippo syndrome type D Etiological subtype 79270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 Sanfilippo syndrome type B Etiological subtype 79271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 Sanfilippo syndrome type C Etiological subtype 79269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 Sanfilippo syndrome type A Etiological subtype 584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 Mucopolysaccharidosis type 7 Disease 583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 Mucopolysaccharidosis type 6 Disease 276223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 Mucopolysaccharidosis type 6, slowly progressing Clinical subtype 276212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 Mucopolysaccharidosis type 6, rapidly progressing Clinical subtype 79225 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225 Sphingolipidosis Category 487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 Krabbe disease Disease 206436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 Infantile Krabbe disease Clinical subtype 206443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 Late-infantile/juvenile Krabbe disease Clinical subtype 206448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 Adult Krabbe disease Clinical subtype 355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355 Gaucher disease Disease 2072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Clinical subtype 85212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 Fetal Gaucher disease Clinical subtype 77261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 Gaucher disease type 3 Clinical subtype 77260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 Gaucher disease type 2 Clinical subtype 77259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 Gaucher disease type 1 Clinical subtype 309252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252 Atypical Gaucher disease due to saposin C deficiency Clinical subtype 79204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204 Lipid storage disease Category 275761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 Lysosomal acid lipase deficiency Disease 75234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 Cholesteryl ester storage disease Clinical subtype 75233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 Wolman disease Clinical subtype 646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 Niemann-Pick disease type C Disease 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 Clinical subtype 216978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 Niemann-Pick disease type C, late infantile neurologic onset Clinical subtype 216981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 Niemann-Pick disease type C, juvenile neurologic onset Clinical subtype 216972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 Niemann-Pick disease type C, severe perinatal form Clinical subtype 216986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 Niemann-Pick disease type C, adult neurologic onset Clinical subtype 139406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 Encephalopathy due to prosaposin deficiency Disease 309144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144 Gangliosidosis Category 354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 GM1 gangliosidosis Disease 79256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 GM1 gangliosidosis type 2 Clinical subtype 79257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 GM1 gangliosidosis type 3 Clinical subtype 79255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 GM1 gangliosidosis type 1 Clinical subtype 309152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 GM2 gangliosidosis Clinical group 796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Sandhoff disease Disease 309169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 Sandhoff disease, adult form Clinical subtype 309155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 Sandhoff disease, infantile form Clinical subtype 309162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 Sandhoff disease, juvenile form Clinical subtype 309246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 GM2 gangliosidosis, AB variant Disease 845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 Tay-Sachs disease Disease 309178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 Tay-Sachs disease, infantile form Clinical subtype 309185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 Tay-Sachs disease, juvenile form Clinical subtype 309192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 Tay-Sachs disease, adult form Clinical subtype 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 Metachromatic leukodystrophy Disease 309271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 Metachromatic leukodystrophy, adult form Clinical subtype 309256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 Metachromatic leukodystrophy, late infantile form Clinical subtype 309263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 Metachromatic leukodystrophy, juvenile form Clinical subtype 585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 Multiple sulfatase deficiency Disease 352641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 Autosomal recessive cerebellar ataxia with late-onset spasticity Disease 618899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 Acid sphingomyelinase deficiency Clinical group 77292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency Disease 77293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 Chronic visceral acid sphingomyelinase deficiency Disease 618891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 Chronic neurovisceral acid sphingomyelinase deficiency Disease 333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 Farber disease Disease 68364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364 Hemoglobinopathy Category 2132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 Hemoglobin C disease Disease 90039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 Hemoglobin D disease Disease 707792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707792 Unstable gamma globin chain variant disease Disease 715147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715147 Low oxygen affinity hemoglobin disease Disease 715154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715154 Low oxygen affinity alpha chain hemoglobin disease Etiological subtype 715157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715157 Low oxygen affinity beta chain hemoglobin disease Etiological subtype 280615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 Low oxygen affinity gamma chain hemoglobin disease Etiological subtype 707786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707786 Thalassemia Category 2133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 Hemoglobin E disease Disease 275745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745 Alpha-thalassemia and related disorders Category 707789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707789 Unstable alpha globin chain variant disease Disease 846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 Alpha-thalassemia Clinical group 93616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 Hemoglobin H disease Disease 163596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 Hemoglobin Bart's fetalis syndrome Disease 232288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288 Syndrome with alpha-thalassemia as a major feature Category 847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 X-linked alpha-thalassemia-intellectual disability syndrome Malformation syndrome 98791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Malformation syndrome 231401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 Alpha-thalassemia-myelodysplastic syndrome Disease 275749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749 Beta-thalassemia and related disorders Category 231386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386 Syndromic beta-thalassemia Category 231393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 Beta-thalassemia-X-linked thrombocytopenia syndrome Disease 231230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230 Beta-thalassemia associated with another hemoglobin anomaly Category 231249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 Hemoglobin E-beta-thalassemia syndrome Disease 715128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715128 Hemoglobin E-beta-thalassemia major Clinical subtype 715125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715125 Hemoglobin E-beta-thalassemia intermedia Clinical subtype 231242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 Hemoglobin C-beta-thalassemia syndrome Disease 330032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 Hemoglobin Lepore-beta-thalassemia syndrome Disease 715135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715135 Hemoglobin Lepore-beta-thalassemia intermedia Clinical subtype 715140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715140 Hemoglobin Lepore-beta-thalassemia major Clinical subtype 231237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 Delta-beta-thalassemia Disease 231226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 Unstable beta globin chain variant disease Disease 46532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Disease 848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 Beta-thalassemia Clinical group 715143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715143 Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene Disease 231222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 Beta-thalassemia intermedia Disease 231214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 Beta-thalassemia major Disease 700111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700111 Homozygous hemoglobin O Arab disease Disease 275752 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752 Sickle cell disease Category 251359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359 Sickle cell-beta-thalassemia disease Disease 695140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695140 Sickle cell-beta zero-thalassemia Etiological subtype 695147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695147 Sickle cell-beta plus-thalassemia Etiological subtype 251365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 Sickle cell S-C disease Disease 251380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Disease 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 Disease 700107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700107 Sickle cell S-other specified hemoglobin variant Clinical subtype 251370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 Sickle cell S-D Punjab disease Clinical subtype 251375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 Sickle cell S-E disease Clinical subtype 700090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700090 Sickle cell S-O Arab disease Clinical subtype 699822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699822 Sickle cell S-Lepore disease Clinical subtype 232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 Sickle cell anemia Disease 2781 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 Osteopetrosis and related disorders Clinical group 210110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 Intermediate osteopetrosis Malformation syndrome 2485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 Melorheostosis Malformation syndrome 667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 Autosomal recessive malignant osteopetrosis Malformation syndrome 85179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 Infantile osteopetrosis with neuroaxonal dysplasia Malformation syndrome 556985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia Disease 1879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 Melorheostosis with osteopoikilosis Malformation syndrome 2783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 Autosomal dominant osteopetrosis type 1 Malformation syndrome 178389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 Osteopetrosis-hypogammaglobulinemia syndrome Disease 500548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 Osteosclerotic metaphyseal dysplasia Malformation syndrome 53 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 Albers-Schönberg osteopetrosis Malformation syndrome 69088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Disease 763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 Pycnodysostosis Disease 1782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 Dysosteosclerosis Malformation syndrome 2777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 Osteomesopyknosis Malformation syndrome 94063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 12q14 microdeletion syndrome Malformation syndrome 166119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 Isolated osteopoikilosis Disease 2785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 Osteopetrosis with renal tubular acidosis Disease 2780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 Osteopathia striata-cranial sclerosis syndrome Malformation syndrome 99844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 Leukocyte adhesion deficiency type III Clinical subtype 603494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome Malformation syndrome 3399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3399 Germ cell tumor Category 363579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363579 Extragonadal germ cell tumor Category 99913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99913 Extragonadal non-dysgerminomatous germ cell tumor Category 180234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180234 Mixed germ cell tumor Disease 252021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021 Mixed germ cell tumor of central nervous system Clinical subtype 314613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314613 Growing teratoma syndrome Particular clinical situation in a disease or syndrome 180229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180229 Polyembryoma Disease 883 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=883 Extragonadal teratoma Disease 141107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107 Nasopharyngeal teratoma Clinical subtype 494421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494421 Sacrococcygeal teratoma Clinical subtype 141077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077 Epignathus Clinical subtype 252018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018 Teratoma of the central nervous system Clinical subtype 876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=876 Yolk sac tumor Disease 252006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006 Yolk sac tumor of central nervous system Clinical subtype 99926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926 Gestational choriocarcinoma Disease 180226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180226 Embryonal carcinoma Disease 48736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736 Embryonal carcinoma of the central nervous system Clinical subtype 289362 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289362 Non-central nervous system-localized embryonal carcinoma Clinical subtype 182127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182127 Extragonadal germinoma Disease 91352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 Germinoma of the central nervous system Clinical subtype 251995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251995 Primary germ cell tumor of central nervous system Category 48736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736 Embryonal carcinoma of the central nervous system Clinical subtype 252018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018 Teratoma of the central nervous system Clinical subtype 252021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021 Mixed germ cell tumor of central nervous system Clinical subtype 252015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015 Choriocarcinoma of the central nervous system Disease 91352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 Germinoma of the central nervous system Clinical subtype 252006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006 Yolk sac tumor of central nervous system Clinical subtype 363582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363582 Gonadal germ cell tumor Category 35807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807 Malignant germ cell tumor of ovary Category 99912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912 Ovarian dysgerminoma Disease 206538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538 Malignant non-dysgerminomatous germ cell tumor of ovary Disease 289356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356 Primary non-gestational choriocarcinoma of ovary Disease 363504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504 Germ cell tumor of testis Category 363494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494 Non-seminomatous germ cell tumor of testis Disease 842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842 Testicular seminomatous germ cell tumor Disease 99865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865 Spermatocytic seminoma Disease 668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668 Osteosarcoma Disease 370334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370334 Extraskeletal Ewing sarcoma Disease 506222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506222 Rare disorder potentially indicated for lung transplant Category 586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 Cystic fibrosis Disease 3188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 Congenital pulmonary veins atresia or stenosis Clinical group 99126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 Congenital pulmonary vein atresia Morphological anomaly 642071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 Primary pulmonary vein stenosis Disease 692812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome Disease 1303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1303 Bronchiolitis obliterans Clinical group 658602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658602 Transplant-related bronchiolitis obliterans Disease 658612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658612 Non-transplant-related bronchiolitis obliterans Disease 182095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182095 Interstitial lung disease Category 264757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264757 Interstitial lung disease in childhood and adulthood Category 264944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264944 Secondary interstitial lung disease in childhood and adulthood Category 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 Category 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 Category 77259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 Gaucher disease type 1 Clinical subtype 646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 Niemann-Pick disease type C Disease 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 Clinical subtype 216978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 Niemann-Pick disease type C, late infantile neurologic onset Clinical subtype 216981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 Niemann-Pick disease type C, juvenile neurologic onset Clinical subtype 216972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 Niemann-Pick disease type C, severe perinatal form Clinical subtype 216986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 Niemann-Pick disease type C, adult neurologic onset Clinical subtype 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 Category 809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809 Mixed connective tissue disease Disease 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 Category 91138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138 Cryoglobulinemic vasculitis Disease 93555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555 Mixed cryoglobulinemia type III Etiological subtype 93554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554 Mixed cryoglobulinemia type II Etiological subtype 156152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis Clinical group 183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 Eosinophilic granulomatosis with polyangiitis Disease 727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 Microscopic polyangiitis Disease 900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 Granulomatosis with polyangiitis Disease 375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=375 Anti-glomerular basement membrane disease Disease 264984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264984 Exposure-related interstitial lung disease Category 31740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31740 Hypersensitivity pneumonitis Disease 686462 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686462 Non-fibrotic hypersensitivity pneumonitis Clinical subtype 686465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686465 Fibrotic hypersensitivity pneumonitis Clinical subtype 264978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264978 Drug or radiation exposure-related interstitial lung disease Particular clinical situation in a disease or syndrome 420259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420259 Secondary pulmonary alveolar proteinosis Disease 99930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99930 Secondary pulmonary hemosiderosis Disease 99932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99932 Heiner syndrome Disease 264762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264762 Primary interstitial lung disease in childhood and adulthood Category 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 Category 182101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182101 Idiopathic eosinophilic pneumonia Clinical group 2902 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2902 Idiopathic chronic eosinophilic pneumonia Disease 724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=724 Idiopathic acute eosinophilic pneumonia Disease 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 Category 440392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392 Interstitial lung disease due to SP-C deficiency Disease 217566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 Chronic respiratory distress with surfactant metabolism deficiency Disease 99931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99931 Idiopathic pulmonary hemosiderosis Disease 264735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264735 Interstitial lung disease specific to adulthood Category 264740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264740 Primary interstitial lung disease specific to adulthood Category 122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 Birt-Hogg-Dubé syndrome Malformation syndrome 538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538 Lymphangioleiomyomatosis Disease 747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=747 Autoimmune pulmonary alveolar proteinosis Disease 182098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182098 Pneumoconiosis Clinical group 2302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2302 Asbestos intoxication Disease 133 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133 Chronic beryllium disease Disease 70578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70578 Adult acute respiratory distress syndrome Disease 98300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98300 Idiopathic interstitial pneumonia Clinical group 2032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032 Idiopathic pulmonary fibrosis Disease 79127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79127 Respiratory bronchiolitis-interstitial lung disease syndrome Disease 79128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79128 Lymphoid interstitial pneumonia Disease 1302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1302 Cryptogenic organizing pneumonia Disease 91364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91364 Non-specific interstitial pneumonia Disease 98852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98852 Desquamative interstitial pneumonia Disease 300564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300564 Combined pulmonary fibrosis-emphysema syndrome Disease 79126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79126 Acute interstitial pneumonia Disease 494428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494428 Idiopathic pleuroparenchymal fibroelastosis Disease 210136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Disease 221043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Disease 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 Category 81 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81 Antisynthetase syndrome Disease 797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 Sarcoidosis Disease 264656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264656 Interstitial lung disease specific to childhood Category 264665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264665 Primary interstitial lung disease specific to childhood Category 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 Category 306504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome Disease 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 Category 209905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 Brain-lung-thyroid syndrome Disease 440402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402 Interstitial lung disease due to ABCA3 deficiency Disease 572428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Disease 217563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 Neonatal acute respiratory distress syndrome Disease 264675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 Hereditary pulmonary alveolar proteinosis Disease 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 Disease 264694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264694 Interstitial lung disease specific to infancy Category 217557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217557 Pulmonary interstitial glycogenosis Disease 217560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217560 Neuroendocrine cell hyperplasia of infancy Disease 621758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome Disease 91359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91359 Chronic pneumonitis of infancy Disease 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 Category 662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 Lymphedema with yellow nails Disease 352629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629 16q24.1 microdeletion syndrome Disease 210122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 Congenital alveolar capillary dysplasia Disease 264688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264688 Congenital chylothorax Disease 2414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 Congenital pulmonary lymphangiectasia Disease 264691 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264691 Isolated pulmonary capillaritis Disease 137631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Disease 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 Category 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 Category 379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 Chronic granulomatous disease Disease 90340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 Blau syndrome Disease 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 Category 231500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency Clinical subtype 77260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 Gaucher disease type 2 Clinical subtype 77261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 Gaucher disease type 3 Clinical subtype 405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 Familial hypocalciuric hypercalcemia Disease 93372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 Familial hypocalciuric hypercalcemia type 1 Etiological subtype 101049 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 Familial hypocalciuric hypercalcemia type 2 Etiological subtype 101050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 Familial hypocalciuric hypercalcemia type 3 Etiological subtype 618899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 Acid sphingomyelinase deficiency Clinical group 77292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency Disease 77293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 Chronic visceral acid sphingomyelinase deficiency Disease 618891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 Chronic neurovisceral acid sphingomyelinase deficiency Disease 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 Category 92 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92 Juvenile idiopathic arthritis Clinical group 91140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91140 Unspecified juvenile idiopathic arthritis Disease 404580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404580 Polyarticular juvenile idiopathic arthritis Clinical group 85435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Disease 85408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Disease 85438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85438 Enthesitis-related juvenile idiopathic arthritis Disease 85414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85414 Systemic-onset juvenile idiopathic arthritis Disease 85410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85410 Oligoarticular juvenile idiopathic arthritis Disease 85436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85436 Psoriasis-related juvenile idiopathic arthritis Disease 93568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568 Juvenile polymyositis Disease 93552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 Pediatric systemic lupus erythematosus Disease 93672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672 Juvenile dermatomyositis Disease 619367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 SAMD9L-associated autoinflammatory syndrome Disease 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 Category 761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=761 Immunoglobulin A vasculitis Disease 444092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 Autoimmune interstitial lung disease-arthritis syndrome Disease 182090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182090 Pulmonary arterial hypertension Category 275791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275791 Pulmonary arterial hypertension associated with another disease Category 275798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275798 Pulmonary arterial hypertension associated with connective tissue disease Clinical group 275803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275803 Pulmonary arterial hypertension associated with congenital heart disease Clinical group 97214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97214 Eisenmenger syndrome Malformation syndrome 275813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275813 Pulmonary arterial hypertension associated with portal hypertension Clinical group 275828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia Clinical group 275823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275823 Pulmonary arterial hypertension associated with schistosomiasis Clinical group 275808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275808 Pulmonary arterial hypertension associated with HIV infection Clinical group 275786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275786 Drug- or toxin-induced pulmonary arterial hypertension Clinical group 422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422 Idiopathic/heritable pulmonary arterial hypertension Disease 275766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766 Idiopathic pulmonary arterial hypertension Etiological subtype 275777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 Heritable pulmonary arterial hypertension Etiological subtype 137667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667 Capillary malformation-arteriovenous malformation Clinical group 693907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693907 RASA1-related capillary malformation-arteriovenous malformation Malformation syndrome 693912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693912 EPHB4-related capillary malformation-arteriovenous malformation Malformation syndrome 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 Particular clinical situation in a disease or syndrome 39812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39812 Graft versus host disease Disease 99920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99920 Acute graft versus host disease Clinical subtype 99921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99921 Chronic graft versus host disease Clinical subtype 244275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244275 De novo thrombotic microangiopathy after kidney transplantation Particular clinical situation in a disease or syndrome