commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Rare diseases and classifications/Classifications of rare diseases/en_product3_150.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_150.xml index f7a6cdd..7e95393 100755 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_150.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_150.xml @@ -1,14346 +1,14346 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 156449 - Orphanet classification of rare inborn errors of metabolism - - - - 68367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367 - Rare inborn errors of metabolism - - Category - - - - - - 137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137 - Congenital disorder of glycosylation - - Category - - - - - - 309347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309347 - Disorder of protein N-glycosylation - - Category - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - Disease - - - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - - - - - - 79321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 - ALG3-CDG - - Disease - - - - - - - - 79324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 - ALG12-CDG - - Disease - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - - - - - - 79327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 - ALG1-CDG - - Disease - - - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - Disease - - - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - Disease - - - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - Disease - - - - - - - - 86309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 - DPAGT1-CDG - - Disease - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - Disease - - - - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - Disease - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - Disease - - - - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - Disease - - - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 397941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 - MAN1B1-CDG - - Disease - - - - - - - - 697734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697734 - ST3GAL3-CDG - - Disease - - - - - - - - 695110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 - MAN2B2-CDG - - Disease - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - 695783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 - EDEM3-CDG - - Disease - - - - - - - - - - 309447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309447 - Disorder of protein O-glycosylation - - Category - - - - - - 309450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309450 - Disorder of O-xylosylglycan synthesis - - Category - - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - Disease - - - - - - - - 480682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 - POGLUT1-related limb-girdle muscular dystrophy R21 - - Disease - - - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - - - 309458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309458 - Disorder of O-N-acetylgalactosaminylglycan synthesis - - Category - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - - - 309463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309463 - Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis - - Category - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - - - - - - - - 309469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309469 - Disorder of O-mannosylglycan synthesis - - Category - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - Disease - - - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - Disease - - - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - Disease - - - - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - Disease - - - - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - Disease - - - - - - - - 370980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 - Congenital muscular dystrophy without intellectual disability - - Disease - - - - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - Disease - - - - - - - - - - 309505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309505 - Disorder of fucoglycosan synthesis - - Category - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - Malformation syndrome - - - - - - - - 79145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 - Dowling-Degos disease - - Disease - - - - - - - - - - - - 309515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309515 - Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation - - Category - - - - - - 401820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 - Autosomal recessive spastic paraplegia type 67 - - Disease - - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - Disease - - - - - - - - 447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 - Paroxysmal nocturnal hemoglobinuria - - Disease - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 83639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - Disease - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - Disease - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - - - 309526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309526 - Disorder of multiple glycosylation - - Category - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - - - - - - 79322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 - DPM1-CDG - - Disease - - - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - Disease - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - Disease - - - - - - - - 98873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 - Congenital dyserythropoietic anemia type II - - Disease - - - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - Clinical subtype - - - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - - - - - - 309568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309568 - Defect in conserved oligomeric Golgi complex - - Category - - - - - - 464443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 - COG6-CGD - - Disease - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 95428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 - COG8-CDG - - Disease - - - - - - - - 263487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 - COG5-CDG - - Disease - - - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 435934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 - COG2-CDG - - Disease - - - - - - - - - - 309778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309778 - Defect in V-ATPase - - Category - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 692790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 - ATP6AP1-CDG - - Disease - - - - - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 443811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 - PGM3-CDG - - Disease - - - - - - - - 448010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 - CAD-CDG - - Disease - - - - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - Disease - - - - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - Disease - - - - - - - - - - - - 68366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366 - Lysosomal disease - - Category - - - - - - 306511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 - Autosomal recessive spastic paraplegia type 48 - - Disease - - - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - Clinical group - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - - - 35121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121 - Lysosomal acid phosphatase deficiency - - Disease - - - - - - - - 79207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207 - Disorder of lysosomal amino acid transport - - Category - - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - Disease - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - - - - - - - - 834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 - Free sialic acid storage disease - - Disease - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - Clinical subtype - - - - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - Clinical subtype - - - - - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 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 - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - 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 - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological 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 - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 79225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225 - Sphingolipidosis - - Category - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - - - - 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 - - - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - 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 - - - - - - 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 - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - 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 - - - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - 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 - - - - - - - - 85212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 - Fetal Gaucher disease - - 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 - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - Disease - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - 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 - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - 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 - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 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 - - - - - - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - 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 - - - - - - - - - - - - 309279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309279 - Glycoproteinosis - - Category - - - - - - 79212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212 - Mucolipidosis - - Category - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - - - - - - 577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 - Mucolipidosis type III - - Disease - - - - - - 423461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 - Mucolipidosis type III alpha/beta - - Clinical subtype - - - - - - - - 423470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 - Mucolipidosis type III gamma - - Clinical subtype - - - - - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - - - - - - - - 79215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215 - Oligosaccharidosis - - Category - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - - - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - - - 309294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 - Sialidosis - - Clinical group - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - - - - - - - 309319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309319 - Disorder of sialic acid metabolism - - Category - - - - - - 3166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 - Sialuria - - Disease - - - - - - - - - - 309337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309337 - Lysosomal glycogen storage disease - - Category - - - - - - 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 - - - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - - - - - 68373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68373 - Peroxisomal disease - - Category - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - 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 - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 - Acatalasemia - - Disease - - - - - - - - 35706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 - Glutaric acidemia type 3 - - Disease - - - - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - Disease - - - - - - - - 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 - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 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 - - - - - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - Clinical subtype - - - - - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - - - - - - 3276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3276 - Disorder of plasmalogens biosynthesis - - Category - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - - - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - Disease - - - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - Disease - - - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - Disease - - - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - - - - - - - - 79062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062 - Disorder of amino acid and other organic acid metabolism - - Category - - - - - - 468726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 - Severe primary trimethylaminuria - - Disease - - - - - - - - 79166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166 - Disorder of amino acid absorption and transport - - Category - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - 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 - - - - - - - - - - 2195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 - Dicarboxylic aminoaciduria - - Disease - - - - - - - - 470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 - Lysinuric protein intolerance - - Disease - - - - - - - - 94086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086 - Blue diaper 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 - - - - - - - - - - 308451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308451 - Disorder of neutral amino acid transport - - Category - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - - - - - - 42062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 - Iminoglycinuria - - Disease - - - - - - - - - - 363429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - Disease - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - - - - - - - - - - 79167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167 - Disorder of urea cycle metabolism and ammonia detoxification - - Category - - - - - - 90 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 - Argininemia - - Disease - - - - - - - - 23 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 - Argininosuccinic aciduria - - Disease - - - - - - - - 147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 - Carbamoyl-phosphate synthetase 1 deficiency - - Disease - - - - - - - - 187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 - Citrullinemia - - Category - - - - - - 247525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525 - Citrullinemia type I - - Disease - - - - - - 247546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 - Acute neonatal citrullinemia type I - - Clinical subtype - - - - - - - - 247573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 - Late-onset citrullinemia type I - - Clinical subtype - - - - - - - - - - 247582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582 - Citrin deficiency - - Category - - - - - - 247585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 - Citrullinemia type II - - Disease - - - - - - - - 247598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 - Neonatal intrahepatic cholestasis due to citrin deficiency - - Disease - - - - - - - - - - - - 415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - Disease - - - - - - - - 927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 - Hyperammonemia due to N-acetylglutamate synthase deficiency - - Disease - - - - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - Disease - - - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - - - - - - 664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 - Ornithine transcarbamylase deficiency - - Disease - - - - - - - - - - 79173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173 - Disorder of methionine cycle and sulfur amino acid metabolism - - Category - - - - - - 562538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 - Autosomal recessive extra-oral halitosis - - Disease - - - - - - - - 619979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 - Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome - - Disease - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 - Cystathioninuria - - Disease - - - - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - Disease - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - - - - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - Disease - - - - - - - - 168598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 - Methionine adenosyltransferase I/III deficiency - - Disease - - - - - - - - 289290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - Disease - - - - - - - - 289891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 - Hypermethioninemia due to glycine N-methyltransferase deficiency - - Disease - - - - - - - - 1035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 - Beta-mercaptolactate cysteine disulfiduria - - Biological anomaly - - - - - - - - - - 79181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181 - Disorder of histidine metabolism - - Category - - - - - - 2157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 - Histidinemia - - Disease - - - - - - - - 210128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 - Urocanic aciduria - - Disease - - - - - - - - 2158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158 - Histidinuria-renal tubular defect syndrome - - Disease - - - - - - - - - - 79185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185 - Disorder of ornithine or proline metabolism - - Category - - - - - - 289866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866 - Disorder of proline metabolism - - Category - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - Disease - - - - - - - - 79101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 - Hyperprolinemia type 2 - - Disease - - - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - - - - - - - - - - 289869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289869 - Disorder of ornithine metabolism - - Category - - - - - - 414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 - Gyrate atrophy of choroid and retina - - Disease - - - - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - Disease - - - - - - - - - - - - 79187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187 - Disorder of peptide metabolism - - Category - - - - - - 1361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 - Carnosinase deficiency - - Biological anomaly - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - - - 79190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190 - Disorder of phenylalanin or tyrosine metabolism - - Category - - - - - - 284814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814 - Disorder of phenylalanine metabolism - - Category - - - - - - 716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 - Phenylketonuria - - Disease - - - - - - 79253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253 - Mild phenylketonuria - - Clinical subtype - - - - - - - - 79254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254 - Classic phenylketonuria - - Clinical subtype - - - - - - - - 79651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 - Mild hyperphenylalaninemia - - Clinical subtype - - - - - - - - 293284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - Clinical subtype - - - - - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - - - - - - - - 284818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818 - Disorder of tyrosine metabolism - - Category - - - - - - 56 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 - Alkaptonuria - - Disease - - - - - - - - 2118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 - Hawkinsinuria - - Disease - - - - - - - - 3402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402 - Transient tyrosinemia of the newborn - - Disease - - - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - Disease - - - - - - - - 69723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 - Tyrosinemia type 3 - - Disease - - - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - - - - - - - - - - 79194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194 - Disorder of serine or glycine metabolism - - Category - - - - - - 3129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 - Sarcosinemia - - Disease - - - - - - - - 407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 - Glycine encephalopathy - - Disease - - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - Clinical subtype - - - - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - Clinical subtype - - - - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - Clinical subtype - - - - - - - - - - 35705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 - Neurometabolic disorder due to serine deficiency - - Category - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 447997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - Disease - - - - - - - - 583595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 - Serine biosynthesis pathway deficiency, infantile/juvenile form - - Disease - - - - - - 79351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 79350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 284417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - - - - - 243343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 - Dimethylglycine dehydrogenase deficiency - - Disease - - - - - - - - - - 79196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196 - Disorder of the gamma-glutamyl cycle - - Category - - - - - - 32 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 - Glutathione synthetase deficiency - - Disease - - - - - - 289846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - Clinical subtype - - - - - - - - 289849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - Clinical subtype - - - - - - - - - - 33572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 - 5-oxoprolinase deficiency - - Disease - - - - - - - - 33573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 - Gamma-glutamyl transpeptidase deficiency - - Disease - - - - - - - - 33574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 - Glutamate-cysteine ligase deficiency - - Disease - - - - - - - - - - 79197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197 - Disorder of branched-chain amino acid metabolism - - Category - - - - - - 511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 - Maple syrup urine disease - - Disease - - - - - - 268145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 - Classic maple syrup urine disease - - Clinical subtype - - - - - - - - 268162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 - Intermediate maple syrup urine disease - - Clinical subtype - - - - - - - - 268173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 - Intermittent maple syrup urine disease - - Clinical subtype - - - - - - - - 268184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 - Thiamine-responsive maple syrup urine disease - - Clinical subtype - - - - - - - - - - 289307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 - Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - - Disease - - - - - - - - 308410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - Disease - - - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - - - - - - - - 289829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829 - Disorder of tryptophan metabolism - - Category - - - - - - 2224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 - Hypertryptophanemia - - Disease - - - - - - - - 79155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 - Hydroxykynureninuria - - Disease - - - - - - - - - - 289832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832 - Disorder of lysine and hydroxylysine metabolism - - Category - - - - - - 2203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 - Hyperlysinemia - - Disease - - - - - - - - 3124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 - Saccharopinuria - - Disease - - - - - - - - 79154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 - 2-aminoadipic 2-oxoadipic aciduria - - Disease - - - - - - - - 79156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - Disease - - - - - - - - - - 289841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841 - Disorder of glutamine metabolism - - Category - - - - - - 557056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - Disease - - - - - - - - 557064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - Disease - - - - - - - - 71278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - Disease - - - - - - - - - - 289899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899 - Organic aciduria - - Category - - - - - - 79158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158 - Cerebral organic aciduria - - Category - - - - - - 653880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - - Disease - - - - - - - - 19 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 - 2-hydroxyglutaric aciduria - - Clinical group - - - - - - 79314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 - L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 79315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 - D-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 356978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 - D,L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - - - 25 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 - Glutaryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 308448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308448 - Aminoacylase deficiency - - Clinical group - - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - Disease - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - - - - - - - - 137754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 - Aminoacylase 1 deficiency - - Disease - - - - - - - - - - 391417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 - HSD10 disease - - Disease - - - - - - 85295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 - HSD10 disease, atypical type - - Clinical subtype - - - - - - - - 391428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 - HSD10 disease, infantile type - - Clinical subtype - - - - - - - - 391457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 - HSD10 disease, neonatal type - - Clinical subtype - - - - - - - - - - - - 79163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163 - Classic organic aciduria - - Category - - - - - - 33 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 - Isovaleric acidemia - - Disease - - - - - - - - 148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 - Multiple carboxylase deficiency - - Clinical group - - - - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - Disease - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - Clinical subtype - - - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - Clinical subtype - - - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - - - - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - Disease - - - - - - - - 939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939 - 3-hydroxyisobutyric aciduria - - Disease - - - - - - - - 20 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 - 3-hydroxy-3-methylglutaric aciduria - - Disease - - - - - - - - 6 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 - 3-methylcrotonyl-CoA carboxylase deficiency - - Disease - - - - - - - - 35 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 - Propionic acidemia - - Disease - - - - - - - - 79157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 79159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 - Isobutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 88639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - Disease - - - - - - - - 289504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 - Combined malonic and methylmalonic acidemia - - Disease - - - - - - - - 289902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902 - 3-methylglutaconic aciduria - - Clinical group - - - - - - 505208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 - 3-methylglutaconic aciduria type 8 - - Disease - - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - Disease - - - - - - - - 67046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 - 3-methylglutaconic aciduria type 1 - - Disease - - - - - - - - 67047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 - 3-methylglutaconic aciduria type 3 - - Disease - - - - - - - - 67048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 - 3-methylglutaconic aciduria type 4 - - Disease - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 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 - - - - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - Disease - - - - - - - - - - 293355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355 - Methylmalonic acidemia without homocystinuria - - Clinical group - - - - - - 27 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 - Vitamin B12-unresponsive methylmalonic acidemia - - Disease - - - - - - 79312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - Clinical subtype - - - - - - - - 289916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - Clinical subtype - - - - - - - - - - 28 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 - Vitamin B12-responsive methylmalonic acidemia - - Disease - - - - - - 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 - - - - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - Clinical subtype - - - - - - - - - - 308425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - - Disease - - - - - - - - - - - - - - 308407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308407 - Disorder of beta and omega amino acid metabolism - - Category - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - - - - - - - - 352728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352728 - Disorder of melanin metabolism - - Category - - - - - - 55 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 - Oculocutaneous albinism - - Clinical group - - - - - - 79432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 - Oculocutaneous albinism type 2 - - Disease - - - - - - - - 79433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 - Oculocutaneous albinism type 3 - - Disease - - - - - - - - 79435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 - Oculocutaneous albinism type 4 - - Disease - - - - - - - - 352731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 - Oculocutaneous albinism type 1 - - Disease - - - - - - 79431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 - Oculocutaneous albinism type 1A - - Clinical subtype - - - - - - - - 79434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 - Oculocutaneous albinism type 1B - - Clinical subtype - - - - - - - - 352734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 - Minimal pigment oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - 352737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 - Temperature-sensitive oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - - - 352745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 - Oculocutaneous albinism type 7 - - Disease - - - - - - - - 370091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 - Oculocutaneous albinism type 5 - - Disease - - - - - - - - 370097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 - Oculocutaneous albinism type 6 - - Disease - - - - - - - - 597733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 - Oculocutaneous albinism type 8 - - Disease - - - - - - - - - - 284804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804 - Ocular albinism - - Clinical group - - - - - - 1000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 - Ocular albinism with late-onset sensorineural deafness - - Disease - - - - - - - - 54 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 - X-linked recessive ocular albinism - - Disease - - - - - - - - - - - - 391381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391381 - Disorder of asparagine metabolism - - Category - - - - - - 391376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - Disease - - - - - - - - - - - - 79161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161 - Disorder of carbohydrate metabolism - - Category - - - - - - 79177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177 - Gluconeogenesis disorder - - Category - - - - - - 348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 - Fructose-1,6-bisphosphatase deficiency - - Disease - - - - - - - - 2880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 - Phosphoenolpyruvate carboxykinase deficiency - - Disease - - - - - - - - 3008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 - Pyruvate carboxylase deficiency - - Disease - - - - - - 353308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 - Pyruvate carboxylase deficiency, infantile type - - Clinical subtype - - - - - - - - 353314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 - Pyruvate carboxylase deficiency, severe neonatal type - - Clinical subtype - - - - - - - - 353320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 - Pyruvate carboxylase deficiency, benign type - - Clinical subtype - - - - - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - - - - - - - - 79179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179 - Disorder of glycerol metabolism - - Category - - - - - - 308993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308993 - Glycerol kinase deficiency - - Clinical group - - - - - - 408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 - Isolated glycerol kinase deficiency - - Disease - - - - - - 284411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 - Glycerol kinase deficiency, juvenile form - - Clinical subtype - - - - - - - - 284414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 - Glycerol kinase deficiency, adult form - - Clinical subtype - - - - - - - - - - 261476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 - Xp21 deletion syndrome - - Disease - - - - - - - - - - - - 79201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201 - Glycogen storage disease - - Category - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - Disease - - - - - - - - 369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - Disease - - - - - - - - 371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - Disease - - - - - - - - 370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 - Glycogen storage disease due to phosphorylase kinase deficiency - - Clinical group - - - - - - 715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - Disease - - - - - - - - 79240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - Disease - - - - - - - - 264580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency - - 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 - - - - - - - - - - 57 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 - Glycogen storage disease due to aldolase A deficiency - - Disease - - - - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - Disease - - - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - - - - - - 2364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364 - Glycogen storage disease due to lactate dehydrogenase deficiency - - Disease - - - - - - 284426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - Clinical subtype - - - - - - - - 284435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 - Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - - Clinical subtype - - - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - 97234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 - Glycogen storage disease due to phosphoglycerate mutase deficiency - - Disease - - - - - - - - 99849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 - Glycogen storage disease due to muscle beta-enolase deficiency - - Disease - - - - - - - - 263297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - Disease - - - - - - - - 308520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308520 - Glycogen storage disease due to glycogen synthase deficiency - - Clinical group - - - - - - 2089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 - Glycogen storage disease due to hepatic glycogen synthase 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 - - - - - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - 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 - - - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - - - - - - 456369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 - Polyglucosan body myopathy type 2 - - Disease - - - - - - - - - - 308459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308459 - Disorder of glycolysis - - Category - - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - Disease - - - - - - - - 712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 - Hemolytic anemia due to glucophosphate isomerase deficiency - - Disease - - - - - - - - 79299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 - Congenital glucokinase-related hyperinsulinism - - Disease - - - - - - - - - - 308463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308463 - Disorder of fructose metabolism - - Category - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 - Fructose-1,6-bisphosphatase deficiency - - Disease - - - - - - - - 2056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 - Essential fructosuria - - Disease - - - - - - - - - - 308467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308467 - Disorder of galactose metabolism - - Category - - - - - - 352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 - Galactosemia - - Category - - - - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - Disease - - - - - - - - 79238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 - Galactose epimerase deficiency - - Disease - - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - Clinical subtype - - - - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - Clinical subtype - - - - - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - - - - - - 570422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 - Galactose mutarotase deficiency - - Disease - - - - - - - - - - - - 308998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308998 - Disorder of glyoxylate metabolism - - Category - - - - - - 941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 - D-glyceric aciduria - - Disease - - - - - - - - 416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 - Primary hyperoxaluria - - Disease - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - Clinical subtype - - - - - - - - 93599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 - Primary hyperoxaluria type 2 - - Clinical subtype - - - - - - - - 93600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 - Primary hyperoxaluria type 3 - - Clinical subtype - - - - - - - - - - - - 309001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309001 - Disorder of carbohydrate absorption and transport - - Category - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 35122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 - Congenital sucrase-isomaltase deficiency - - Disease - - - - - - - - 53690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 - Congenital lactase deficiency - - Disease - - - - - - - - 79178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178 - Glucose transport disorder - - Category - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - - - - - - 35710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 - Glucose-galactose malabsorption - - Disease - - - - - - - - 69076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 - Familial renal glucosuria - - Disease - - - - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - Disease - - - - - - - - - - 103907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 - Chronic diarrhea due to glucoamylase deficiency - - Disease - - - - - - - - 103909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 - Trehalase deficiency - - Disease - - - - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - Disease - - - - - - - - 247794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - Disease - - - - - - - - - - 440701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440701 - Disorders of pentose/polyol metabolism - - Category - - - - - - 2843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 - Pentosuria - - Disease - - - - - - - - 79186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186 - Disorder of pentose phosphate metabolism - - Category - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - - - - - - 101028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 - Transaldolase deficiency - - Disease - - - - - - - - 440706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 - Ribose-5-P isomerase deficiency - - Disease - - - - - - - - 440713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 - Isolated sedoheptulokinase deficiency - - Disease - - - - - - - - - - - - - - 79200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200 - Disorder of energy metabolism - - Category - - - - - - 68380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380 - Mitochondrial disease - - Category - - - - - - 223713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713 - Mitochondrial oxidative phosphorylation disorder - - Category - - - - - - 2443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 - Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - - Category - - - - - - 527276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - Disease - - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - - - 611237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 - Parkinsonism with polyneuropathy - - Disease - - - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - - - - - - 1561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 - Fatal infantile cytochrome C oxidase deficiency - - Disease - - - - - - - - 35656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 - Coenzyme Q10 deficiency - - Clinical group - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - 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 - - - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - - - - - - - - 35696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696 - Mitochondrial disorder due to a defect in mitochondrial protein synthesis - - Category - - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - Disease - - - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - - - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - Disease - - - - - - - - 101109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 - Spinocerebellar ataxia type 28 - - Disease - - - - - - - - 137681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - Disease - - - - - - - - 137898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - Disease - - - - - - - - 137908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 - Hypotonia with lactic acidemia and hyperammonemia - - Disease - - - - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - Malformation syndrome - - - - - - - - 168566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - Disease - - - - - - - - 217371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - Disease - - - - - - - - 238329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 - Severe X-linked mitochondrial encephalomyopathy - - Disease - - - - - - - - 254343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - Disease - - - - - - - - 254920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 - Combined oxidative phosphorylation defect type 2 - - Disease - - - - - - - - 254925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 - Combined oxidative phosphorylation defect type 4 - - Disease - - - - - - - - 314051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - Disease - - - - - - - - 314603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - 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 - - - - - - - - 319504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 - Combined oxidative phosphorylation defect type 8 - - Disease - - - - - - - - 319509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 - Combined oxidative phosphorylation defect type 9 - - Disease - - - - - - - - 319514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 - Combined oxidative phosphorylation defect type 13 - - Disease - - - - - - - - 319519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 - Combined oxidative phosphorylation defect type 14 - - Disease - - - - - - - - 319524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 - Combined oxidative phosphorylation defect type 15 - - Disease - - - - - - - - 324535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 - Combined oxidative phosphorylation defect type 11 - - Disease - - - - - - - - 352563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - Disease - - - - - - - - 363694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - Disease - - - - - - - - 369913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 - Combined oxidative phosphorylation defect type 17 - - Disease - - - - - - - - 420728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 - Combined oxidative phosphorylation defect type 20 - - Disease - - - - - - - - 420733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 - Combined oxidative phosphorylation defect type 21 - - Disease - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - - - - - - 444458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 - Combined oxidative phosphorylation defect type 24 - - Disease - - - - - - - - 447954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 - Combined oxidative phosphorylation defect type 25 - - Disease - - - - - - - - 565624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 - Combined oxidative phosphorylation defect type 39 - - Disease - - - - - - - - 528091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome - - Disease - - - - - - - - 457223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - Disease - - - - - - - - 478042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 - Combined oxidative phosphorylation defect type 30 - - Disease - - - - - - - - 466784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - Disease - - - - - - - - 477774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 - Combined oxidative phosphorylation defect type 27 - - Disease - - - - - - - - 497623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 - C12ORF65-related combined oxidative phosphorylation defect - - Clinical group - - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 477684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 - Combined oxidative phosphorylation defect type 26 - - Disease - - - - - - - - 466722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 - Autosomal recessive spastic paraplegia type 77 - - Disease - - - - - - - - 478029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 - Combined oxidative phosphorylation defect type 29 - - Disease - - - - - - - - 570491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 - QRSL1-related combined oxidative phosphorylation defect - - Disease - - - - - - - - 572798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 - WARS2-related combined oxidative phosphorylation defect - - Disease - - - - - - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - Disease - - - - - - - - 254822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822 - Mitochondrial oxidative phosphorylation disorder with no known mechanism - - Category - - - - - - 50812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 - Zellweger-like syndrome without peroxisomal anomalies - - Disease - - - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - Disease - - - - - - - - 98673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 - Autosomal dominant optic atrophy, classic form - - Disease - - - - - - - - 166105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 - FASTKD2-related infantile mitochondrial encephalomyopathy - - Disease - - - - - - - - 227976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 - Autosomal recessive optic atrophy, OPA7 type - - Disease - - - - - - - - 250932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - Disease - - - - - - - - 391348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - Disease - - - - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - Disease - - - - - - - - 457050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - Disease - - - - - - - - - - 309136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309136 - Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes - - Category - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - - - - - - 1194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 - TMEM70-related mitochondrial encephalo-cardio-myopathy - - Disease - - - - - - - - 123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 - Björnstad syndrome - - Disease - - - - - - - - 53693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 - GRACILE syndrome - - Disease - - - - - - - - 254843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843 - Exercise intolerance with lactic acidosis - - Clinical group - - - - - - 43115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - Disease - - - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - Disease - - - - - - - - - - 254902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 - Renal tubulopathy-encephalopathy-liver failure syndrome - - Disease - - - - - - - - 289573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 - Multiple mitochondrial dysfunctions syndrome - - Clinical group - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - Disease - - - - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - Disease - - - - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - Disease - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 397593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - - Disease - - - - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - Disease - - - - - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - - - - - - 352456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352456 - Mitochondrial DNA maintenance syndrome - - Category - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 35698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 - Mitochondrial DNA depletion syndrome - - Category - - - - - - 254803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - Clinical group - - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - Disease - - - - - - - - 17 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - Disease - - - - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - Disease - - - - - - - - 369897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - Disease - - - - - - - - - - 254871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 - Mitochondrial DNA depletion syndrome, hepatocerebral form - - Clinical group - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 255229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 - Navajo neurohepatopathy - - Disease - - - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - - - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - - - - - - 313772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - Disease - - - - - - - - - - 254807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807 - Multiple mitochondrial DNA deletion syndrome - - Category - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - - - - - - 254818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818 - Ataxia neuropathy spectrum - - Clinical group - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - Disease - - - - - - - - 94125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 - Recessive mitochondrial ataxia syndrome - - Disease - - - - - - - - 254881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 - Spinocerebellar ataxia with epilepsy - - Disease - - - - - - - - - - 254886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 - Autosomal recessive progressive external ophthalmoplegia - - Disease - - - - - - - - 254892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 - Autosomal dominant progressive external ophthalmoplegia - - Disease - - - - - - - - 329314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - Disease - - - - - - - - 352470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 - DNA2-related mitochondrial DNA deletion syndrome - - Disease - - - - - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - - - - - - - - 391351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 - SURF1-related Charcot-Marie-Tooth disease type 4 - - Disease - - - - - - - - 435998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - Disease - - - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - - - - - - - - 254758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758 - Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies - - Category - - - - - - 254767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767 - Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA - - Category - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - Disease - - - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - - - - - - 1670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 - Chronic diarrhea with villous atrophy - - Disease - - - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - - - - - - - - 254776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776 - Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA - - Category - - - - - - 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 - - - - - - - - 104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 - Leber hereditary optic neuropathy - - Disease - - - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - - - - - - 90641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 - Rare mitochondrial non-syndromic sensorineural deafness - - Etiological subtype - - - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - - - - - - 254788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788 - Mitochondrial DNA-related mitochondrial myopathy - - Clinical group - - - - - - 2596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 - Myopathy and diabetes mellitus - - Disease - - - - - - - - 254854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854 - Pure mitochondrial myopathy - - Disease - - - - - - - - 254857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 - Lethal infantile mitochondrial myopathy - - Disease - - - - - - - - 254864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 - Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - - Disease - - - - - - - - - - 254851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851 - Mitochondrial DNA-related dystonia - - Disease - - - - - - - - 255210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 - Mitochondrial DNA-associated Leigh syndrome - - 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 - - - - - - - - 397750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 - Periodic paralysis with later-onset distal motor neuropathy - - Disease - - - - - - - - 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 - - - - - - - - 1349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - Malformation syndrome - - - - - - - - - - - - 254846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846 - Isolated oxidative phosphorylation complex disorder - - Category - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - - - - - - 3208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 - Isolated succinate-CoQ reductase deficiency - - Disease - - - - - - - - 1460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 - Isolated complex III deficiency - - Disease - - - - - - - - 254905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 - Isolated cytochrome C oxidase deficiency - - Disease - - - - - - - - 254913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 - Isolated ATP synthase deficiency - - Disease - - - - - - - - - - - - 254827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827 - Mitochondrial membrane transport disorder - - Category - - - - - - 254830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830 - Mitochondrial substrate carrier disorder - - Category - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 91130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - Disease - - - - - - - - 255132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 - Adult-onset autosomal recessive sideroblastic anemia - - Disease - - - - - - - - 353217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 - Epileptic encephalopathy with global cerebral demyelination - - Disease - - - - - - - - 466784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - Disease - - - - - - - - - - 254834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834 - Mitochondrial protein import disorder - - Category - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - - - - - - - - - - 254837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837 - Unspecified mitochondrial disorder - - Clinical group - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - Disease - - - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - Disease - - - - - - - - 2802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - Disease - - - - - - - - 51188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 - Ethylmalonic encephalopathy - - Disease - - - - - - - - 98672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672 - Autosomal dominant optic atrophy - - Clinical group - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - Disease - - - - - - - - 98673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 - Autosomal dominant optic atrophy, classic form - - Disease - - - - - - - - 250932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - Disease - - - - - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - - - - - - 2597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - Disease - - - - - - - - - - 401854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401854 - Lipoic acid biosynthesis defect - - Category - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - - - - - - 289573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 - Multiple mitochondrial dysfunctions syndrome - - Clinical group - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - Disease - - - - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - Disease - - - - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - Disease - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - - - - - - - - 401859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 - Lipoic acid synthetase deficiency - - Disease - - - - - - - - 401862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862 - Lipoyl transferase 1 deficiency - - Disease - - - - - - - - 401866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 - Childhood-onset spasticity with hyperglycinemia - - Disease - - - - - - - - 447795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 - Lipoyl transferase 2 deficiency - - Biological anomaly - - - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - - - - - - - - - - 79172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 - Creatine deficiency syndrome - - Clinical group - - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - Disease - - - - - - - - 35704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 - L-Arginine:glycine amidinotransferase deficiency - - Disease - - - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - - - - - - - - 79174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174 - Disorder of fatty acid oxidation and ketone body metabolism - - Category - - - - - - 79183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183 - Disorder of ketolysis - - Category - - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - Disease - - - - - - - - 832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 - Succinyl-CoA:3-oxoacid CoA transferase deficiency - - Disease - - - - - - - - - - 309115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309115 - Disorder of fatty acid oxidation and ketogenesis - - Category - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - - - - - - 20 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 - 3-hydroxy-3-methylglutaric aciduria - - Disease - - - - - - - - 35701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - - Disease - - - - - - - - 309120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309120 - Acyl-CoA dehydrogenase deficiency - - Clinical group - - - - - - 42 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 - Medium chain acyl-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 - - - - - - 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 - - - - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - Clinical subtype - - - - - - - - - - 26792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 - Short chain acyl-CoA dehydrogenase 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 - - - - - - - - 329942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942 - Transient neonatal multiple acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - - - 309127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309127 - 3-hydroxyacyl-CoA dehydrogenase deficiency - - Clinical group - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - - - - - 309130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309130 - Disorder of carnitine cycle and carnitine transport - - Category - - - - - - 157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 - Carnitine palmitoyltransferase II deficiency - - Disease - - - - - - 228302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 - Carnitine palmitoyl transferase II deficiency, myopathic form - - Clinical subtype - - - - - - - - 228305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form - - Clinical subtype - - - - - - - - 228308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 - Carnitine palmitoyl transferase II deficiency, neonatal form - - Clinical subtype - - - - - - - - - - 156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 - Carnitine palmitoyl transferase 1A deficiency - - Disease - - - - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - Disease - - - - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - Disease - - - - - - - - - - 309133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309133 - Metabolic disease due to other fatty acid oxidation disorder - - Category - - - - - - 943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 - Malonic aciduria - - Disease - - - - - - - - - - 438072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438072 - Disorder of keton body transport - - Category - - - - - - 438075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 - Ketoacidosis due to monocarboxylate transporter-1 deficiency - - Disease - - - - - - - - - - - - 254746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746 - Pyruvate metabolism disorder - - Category - - - - - - 765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 - Pyruvate dehydrogenase deficiency - - Disease - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - - - - - - 79243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 - Pyruvate dehydrogenase E1-alpha deficiency - - Clinical subtype - - - - - - - - 79244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 - Pyruvate dehydrogenase E2 deficiency - - Clinical subtype - - - - - - - - 79246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 - Pyruvate dehydrogenase phosphatase deficiency - - Clinical subtype - - - - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - Clinical subtype - - - - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - Clinical subtype - - - - - - - - - - 766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 - Hemolytic anemia due to red cell pyruvate kinase deficiency - - Disease - - - - - - - - 447784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 - Mitochondrial pyruvate carrier deficiency - - Disease - - - - - - - - - - 254749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749 - Tricarboxylic acid cycle disorder - - Category - - - - - - 615964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964 - Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate - - Disease - - - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - Disease - - - - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - Disease - - - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - - - - - - - - - - 79214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214 - Disorder of biogenic amine metabolism and transport - - Category - - - - - - 79169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169 - Disorder of neurotransmitter metabolism and transport - - Category - - - - - - 3057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 - Monoamine oxidase A deficiency - - Disease - - - - - - - - 309819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819 - Disorder of pterin metabolism - - Category - - - - - - 255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 - Dopa-responsive dystonia - - Clinical group - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - Disease - - - - - - - - 98808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 - Autosomal dominant dopa-responsive dystonia - - Disease - - - - - - - - - - 238583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - - Disease - - - - - - 226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 - Dihydropteridine reductase deficiency - - Clinical subtype - - - - - - - - 13 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 - 6-pyruvoyl-tetrahydropterin synthase deficiency - - Clinical subtype - - - - - - - - 2102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 - GTP cyclohydrolase I deficiency - - Clinical subtype - - - - - - - - 1578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - Clinical subtype - - - - - - - - - - 508523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - Disease - - - - - - - - - - 309830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309830 - Disorder of catecholamine synthesis - - Category - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - - - - - - 35708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 - Aromatic L-amino acid decarboxylase deficiency - - Disease - - - - - - - - - - 352649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 - Brain dopamine-serotonin vesicular transport disease - - Disease - - - - - - - - - - 79175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175 - Disorder of gamma-aminobutyric acid metabolism - - Category - - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - Disease - - - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - - - - - - - - 79192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192 - Disorder of pyridoxine metabolism - - Category - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - - - 79219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 - Metabolic disease involving other neurotransmitter deficiency - - Category - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - - - - - - 132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 - Hereditary butyrylcholinesterase deficiency - - Disease - - - - - - - - 79097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 - Folinic acid-responsive seizures - - Disease - - - - - - - - - - - - 79224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224 - Disorder of purine or pyrimidine metabolism - - Category - - - - - - 79191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191 - Disorder of purine metabolism - - Category - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - - - - - - 45 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 - Adenosine monophosphate deaminase deficiency - - Disease - - - - - - - - 760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 - Purine nucleoside phosphorylase deficiency - - Disease - - - - - - - - 3467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 - Hereditary xanthinuria - - Disease - - - - - - 93601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 - Xanthinuria type I - - Etiological subtype - - - - - - - - 93602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 - Xanthinuria type II - - Etiological subtype - - - - - - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - Disease - - - - - - - - 976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 - Adenine phosphoribosyltransferase deficiency - - Disease - - - - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - Disease - - - - - - - - 3222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 - Phosphoribosylpyrophosphate synthetase superactivity - - Disease - - - - - - 411536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - 411543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - - - 277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 - Severe combined immunodeficiency due to adenosine deaminase deficiency - - Disease - - - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - Disease - - - - - - - - 99138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 - Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - - 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 - - - - - - - - - - 250977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 - AICA-ribosiduria - - Disease - - - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - Disease - - - - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - Disease - - - - - - - - 633099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 - PAICS deficiency - - Malformation syndrome - - - - - - - - - - 79193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193 - Disorder of pyrimidine metabolism - - Category - - - - - - 30 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 - Hereditary orotic aciduria - - Disease - - - - - - - - 1675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 - Dihydropyrimidine dehydrogenase deficiency - - Disease - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 35120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - Disease - - - - - - - - 38874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 - Dihydropyrimidinuria - - Disease - - - - - - - - 65287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 - Beta-ureidopropionase deficiency - - Disease - - - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - - - - - - 309147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 - Hyper-beta-alaninemia - - Disease - - - - - - - - 448010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 - CAD-CDG - - Disease - - - - - - - - - - - - 91088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088 - Other metabolic disease - - Category - - - - - - 657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 - Congenital isolated hyperinsulinism - - Clinical group - - - - - - 165985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 - Diazoxide-sensitive diffuse hyperinsulinism - - Clinical group - - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - Disease - - - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 79299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 - Congenital glucokinase-related hyperinsulinism - - Disease - - - - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - Disease - - - - - - - - 263455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 - Congenital hyperinsulinism due to HNF4A deficiency - - Disease - - - - - - - - 276556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 - Hyperinsulinism due to UCP2 deficiency - - Disease - - - - - - - - 276575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 276580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - 324575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 - Hyperinsulinism due to HNF1A deficiency - - Disease - - - - - - - - - - 276585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585 - Diazoxide-resistant hyperinsulinism - - Clinical group - - - - - - 79298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298 - Diazoxide-resistant focal hyperinsulinism - - Clinical group - - - - - - 276598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 276603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - - - 165988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 - Diazoxide-resistant diffuse hyperinsulinism - - Clinical group - - - - - - 79643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 - Autosomal recessive hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 79644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - - - - - - - 289877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877 - Transient hyperammonemia of the newborn - - Particular clinical situation in a disease or syndrome - - - - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - Disease - - - - - - - - 714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - Disease - - - - - - - - 79345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 - Brachytelephalangic chondrodysplasia punctata - - Malformation syndrome - - - - - - - - 79507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507 - Hypotonia-failure to thrive-microcephaly syndrome - - Disease - - - - - - - - 99845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 - Genetic recurrent myoglobinuria - - Disease - - - - - - - - 99846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 - Autosomal dominant myoglobinuria - - Disease - - - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - - - - - - 555402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 - NAD(P)HX dehydratase deficiency - - Disease - - - - - - - - 555407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 - NAD(P)HX epimerase deficiency - - Disease - - - - - - - - - - 309005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309005 - Disorder of lipid metabolism - - Category - - - - - - 79226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226 - Sterol metabolism disorder - - Category - - - - - - 79168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168 - Disorder of bile acid synthesis - - Category - - - - - - 84065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065 - Idiopathic malabsorption due to bile acid synthesis defects - - Disease - - - - - - - - 163631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 - Bile acid synthesis defect with cholestasis and malabsorption - - Category - - - - - - 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 - - - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 238475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 - Familial hypercholanemia - - 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 - - - - - - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - Disease - - - - - - - - - - 79195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195 - Sterol biosynthesis disorder - - Category - - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - Malformation syndrome - - - - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - Disease - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - - - - - - 309025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 - Mevalonate kinase deficiency - - Disease - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - - - - - - 343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 - Hyperimmunoglobulinemia D with periodic fever - - Clinical subtype - - - - - - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - Malformation syndrome - - - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - - - - - - - - - - 101953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953 - Rare dyslipidemia - - Category - - - - - - 181422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422 - Rare hyperlipidemia - - Category - - - - - - 412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 - Dysbetalipoproteinemia - - Disease - - - - - - - - 181428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 - Familial Hyperalphalipoproteinemia - - Biological anomaly - - - - - - - - 444490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 - Familial chylomicronemia syndrome - - Disease - - - - - - 309015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 - Familial lipoprotein lipase deficiency - - Etiological subtype - - - - - - - - 309020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 - Familial apolipoprotein C-II deficiency - - Etiological subtype - - - - - - - - 535453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 - Familial lipase maturation factor 1 deficiency - - Etiological subtype - - - - - - - - 535458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 - Familial GPIHBP1 deficiency - - Etiological subtype - - - - - - - - 530849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 - Familial apolipoprotein A5 deficiency - - Etiological subtype - - - - - - - - - - 140905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - Disease - - - - - - - - 477811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811 - Rare hypercholesterolemia - - Category - - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - Disease - - - - - - - - 391665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 - Homozygous familial hypercholesterolemia - - Disease - - - - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - Disease - - - - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - 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 - - - - - - - - - - - - 181431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431 - Rare hypolipidemia - - Category - - - - - - 31153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153 - Hypoalphalipoproteinemia - - Clinical group - - - - - - 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 - - - - - - - - - - 425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 - Apolipoprotein A-I deficiency - - Disease - - - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - - - - - - - - 31154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154 - Hypobetalipoproteinemia - - Clinical group - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - Disease - - - - - - - - - - - - 181437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437 - Rare syndromic dyslipidemia - - Category - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 2882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 - Sitosterolemia - - Disease - - - - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - Disease - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - Clinical subtype - - - - - - - - - - 329481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 - Lipoprotein glomerulopathy - - Disease - - - - - - - - - - - - 309028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 - Disorder of lipid absorption and transport - - Category - - - - - - 309031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 - Pancreatic triacylglycerol lipase deficiency - - Disease - - - - - - - - 309108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 - Pancreatic colipase deficiency - - Disease - - - - - - - - 309111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 - Combined pancreatic lipase-colipase deficiency - - Disease - - - - - - - - - - 352301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352301 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis - - Category - - - - - - 352306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352306 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement - - Category - - - - - - 615938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 - Spastic paraparesis-cataracts-speech delay syndrome - - Clinical syndrome - - - - - - - - 506353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - Disease - - - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - - - - - - 139480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 - Autosomal recessive spastic paraplegia type 39 - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 329303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 - PLA2G6-associated neurodegeneration - - Clinical group - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - Disease - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - Disease - - - - - - - - 424027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 - Progressive myoclonic epilepsy type 8 - - Disease - - - - - - - - 431361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - Disease - - - - - - - - - - 352309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352309 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement - - Category - - - - - - 36386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 - Hereditary sensory and autonomic neuropathy type 1 - - Disease - - - - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - Disease - - - - - - - - - - 352312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352312 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement - - Category - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - - - - - - 165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 - Neutral lipid storage disease - - Clinical group - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - Disease - - - - - - - - 98908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 - Neutral lipid storage disease with myopathy - - Disease - - - - - - - - 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 - - - - - - - - - - - - 99845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 - Genetic recurrent myoglobinuria - - Disease - - - - - - - - 280671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 - Megaconial congenital muscular dystrophy - - 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 - - - - - - - - - - - - 309340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309340 - Disorder of lysosomal-related organelles - - Category - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 2342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 - Haim-Munk syndrome - - Disease - - - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - - - - - - 79430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 - Hermansky-Pudlak syndrome - - 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 - - - - - - - - - - 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 - - - - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - Clinical subtype - - - - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - Clinical subtype - - - - - - - - - - 675782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 - Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN - - Disease - - - - - - - - - - 309813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309813 - Disorder of porphyrin and heme metabolism - - Category - - - - - - 738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 - Porphyria - - Clinical group - - - - - - 659681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 - Erythropoietic porphyria - - Clinical group - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - Disease - - - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - Disease - - - - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - Disease - - - - - - - - 280379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - Disease - - - - - - - - 95159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 - Hepatoerythropoietic porphyria - - Disease - - - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - Disease - - - - - - - - - - 659694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 - Hepatic porphyria - - Clinical group - - - - - - 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 - - - - - - - - - - 659698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 - Hepatic cutaneous porphyria - - Clinical group - - - - - - 101330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 - Porphyria cutanea tarda - - Disease - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - - - - - - - - - - - - - - 75563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 - X-linked sideroblastic anemia - - Disease - - - - - - - - 309816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309816 - Disorder of bilirubin metabolism and excretion - - Category - - - - - - 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 - - - - - - - - - - 234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 - Dubin-Johnson syndrome - - Disease - - - - - - - - 3111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 - Rotor syndrome - - Disease - - - - - - - - 172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 - Progressive familial intrahepatic cholestasis - - Disease - - - - - - 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 - - - - - - - - 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 - - - - - - - - 480476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 - Progressive familial intrahepatic cholestasis type 5 - - 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 - - - - - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - - - - - - 65682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 - Benign recurrent intrahepatic cholestasis - - Disease - - - - - - 99960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 - Benign recurrent intrahepatic cholestasis type 1 - - Clinical subtype - - - - - - - - 99961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 - Benign recurrent intrahepatic cholestasis type 2 - - Clinical subtype - - - - - - - - - - 415286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286 - Bilirubin encephalopathy - - Clinical group - - - - - - 529799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799 - Acute bilirubin encephalopathy - - Clinical syndrome - - - - - - - - 529808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808 - Chronic bilirubin encephalopathy - - Clinical syndrome - - - - - - - - - - - - 562509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 - Heme oxygenase-1 deficiency - - Disease - - - - - - - - - - 309824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309824 - Disorder of metabolite absorption and transport - - Category - - - - - - 309827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309827 - Disorder of vitamin and non-protein cofactor absorption and transport - - Category - - - - - - 79171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171 - Disorder of cobalamin metabolism and transport - - Category - - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - Disease - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - Clinical subtype - - - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - Clinical subtype - - - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - - - - - - - - 859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 - Transcobalamin deficiency - - Disease - - - - - - - - 28 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 - Vitamin B12-responsive methylmalonic acidemia - - Disease - - - - - - 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 - - - - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - Clinical subtype - - - - - - - - - - 2967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967 - Transcobalamin I deficiency - - Disease - - - - - - - - 332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 - Congenital intrinsic factor deficiency - - Disease - - - - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - Disease - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - - - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - - - - - - 280183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 - Methylmalonic aciduria due to transcobalamin receptor defect - - Biological anomaly - - - - - - - - - - 285657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657 - Disorder of folate metabolism and transport - - Category - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - Disease - - - - - - - - 658813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 - Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency - - Disease - - - - - - - - 661412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 - Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency - - Disease - - - - - - - - 395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - Disease - - - - - - - - 51208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 - Formiminoglutamic aciduria - - Disease - - - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - Disease - - - - - - - - 319651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 - Constitutional megaloblastic anemia with severe neurologic disease - - Disease - - - - - - - - - - 298644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644 - Disorder of thiamine metabolism and transport - - Category - - - - - - 217396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 - Progressive polyneuropathy with bilateral striatal necrosis - - Disease - - - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - - - - - - 65284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 - Biotin-thiamine-responsive basal ganglia disease - - Disease - - - - - - - - 199348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 - Thiamine-responsive encephalopathy - - Disease - - - - - - - - 263410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - Disease - - - - - - - - 293955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 - Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - - Disease - - - - - - - - 99742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 - Amish lethal microcephaly - - Malformation syndrome - - - - - - - - - - 309833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309833 - Disorder of other vitamins and cofactors metabolism and transport - - Category - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - 79241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 - Biotinidase deficiency - - Disease - - - - - - - - 98434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 - Hereditary combined deficiency of vitamin K-dependent clotting factors - - Disease - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 199285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 - Hereditary hypercarotenemia and vitamin A deficiency - - Disease - - - - - - - - 352718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 - Progressive retinal dystrophy due to retinol transport defect - - Disease - - - - - - - - 411712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 - Maternal riboflavin deficiency - - Disease - - - - - - - - 79242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 - Holocarboxylase synthetase deficiency - - Disease - - - - - - - - 521268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268 - Sodium-dependent multivitamin transporter deficiency - - Disease - - - - - - - - - - - - 309836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309836 - Disorder of mineral absorption and transport - - Category - - - - - - 309839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309839 - Disorder of copper metabolism - - Category - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - - - - - - 1551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551 - Familial benign copper deficiency - - Disease - - - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - - - - - - 139557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 - X-linked distal spinal muscular atrophy type 3 - - Disease - - - - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 521411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - Disease - - - - - - - - - - 309842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309842 - Disorder of iron metabolism and transport - - Category - - - - - - 446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 - Neonatal hemochromatosis - - Disease - - - - - - - - 1195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 - Congenital atransferrinemia - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 83642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 - Microcytic anemia with liver iron overload - - Disease - - - - - - - - 139507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 - Dietary iron overload disease - - Disease - - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - - - - - - 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 - - - - - - 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 - - - - - - - - 79230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 - HJV or HAMP-related hemochromatosis - - Disease - - - - - - - - - - 648581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 - Digenic hemochromatosis - - Disease - - - - - - - - - - 247790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 - FTH1-related iron overload - - Disease - - - - - - - - 440731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 - L-ferritin deficiency - - Biological anomaly - - - - - - - - 163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 - Hereditary hyperferritinemia-cataract syndrome - - Disease - - - - - - - - 648562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 - Ferroportin disease - - Disease - - - - - - - - - - 309845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309845 - Disorder of zinc metabolism and transport - - Category - - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - Disease - - - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - - - - - - 251523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 - Hyperzincemia and hypercalprotectinemia - - Disease - - - - - - - - - - 309848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309848 - Disorder of magnesium transport - - Category - - - - - - 30924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 - Primary hypomagnesemia with secondary hypocalcemia - - Disease - - - - - - - - 34528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 - Autosomal dominant primary hypomagnesemia with hypocalciuria - - Disease - - - - - - - - 199326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - Disease - - - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - Disease - - - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - Disease - - - - - - - - 620368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 - EGF-related primary hypomagnesemia with intellectual disability - - 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 - - - - - - - - - - - - 309851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309851 - Disorder of manganese transport - - Category - - - - - - 309854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - Disease - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - 521406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - Disease - - - - - - - - - - - - - - - - - + + + + + Creative Commons Attribution 4.0 International + CC-BY-4.0 + https://creativecommons.org/licenses/by/4.0/legalcode + + + + + 156449 + Orphanet classification of rare inborn errors of metabolism + + + + 68367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367 + Rare inborn errors of metabolism + + Category + + + + + + 137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137 + Congenital disorder of glycosylation + + Category + + + + + + 309347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309347 + Disorder of protein N-glycosylation + + Category + + + + + + 79318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 + PMM2-CDG + + Disease + + + + + + + + 79319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 + MPI-CDG + + Disease + + + + + + + + 79320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 + ALG6-CDG + + Disease + + + + + + + + 79321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 + ALG3-CDG + + Disease + + + + + + + + 79324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 + ALG12-CDG + + Disease + + + + + + + + 79325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 + ALG8-CDG + + Disease + + + + + + + + 79326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 + ALG2-CDG + + Disease + + + + + + + + 79327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 + ALG1-CDG + + Disease + + + + + + + + 79328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 + ALG9-CDG + + Disease + + + + + + + + 79329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 + MGAT2-CDG + + Disease + + + + + + + + 79330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 + MOGS-CDG + + Disease + + + + + + + + 86309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 + DPAGT1-CDG + + Disease + + + + + + + + 244310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 + RFT1-CDG + + Disease + + + + + + + + 280071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 + ALG11-CDG + + Disease + + + + + + + + 300536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 + DDOST-CDG + + Disease + + + + + + + + 314667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 + TMEM165-CDG + + Disease + + + + + + + + 319646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 + PGM1-CDG + + Disease + + + + + + + + 324422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 + ALG13-CDG + + Disease + + + + + + + + 353327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 + Congenital myasthenic syndrome with glycosylation defect + + Etiological subtype + + + + + + + + 370921 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 + STT3A-CDG + + Disease + + + + + + + + 370924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 + STT3B-CDG + + Disease + + + + + + + + 370927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 + SSR4-CDG + + Disease + + + + + + + + 370943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 + Autism spectrum disorder-epilepsy-arthrogryposis syndrome + + Disease + + + + + + + + 397941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 + MAN1B1-CDG + + Disease + + + + + + + + 697734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697734 + ST3GAL3-CDG + + Disease + + + + + + + + 695110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 + MAN2B2-CDG + + Disease + + + + + + + + 468699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 + SLC39A8-CDG + + Disease + + + + + + + + 695783 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 + EDEM3-CDG + + Disease + + + + + + + + + + 309447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309447 + Disorder of protein O-glycosylation + + Category + + + + + + 309450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309450 + Disorder of O-xylosylglycan synthesis + + Category + + + + + + 466926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 + Seizures-scoliosis-macrocephaly syndrome + + Disease + + + + + + + + 480682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 + POGLUT1-related limb-girdle muscular dystrophy R21 + + Disease + + + + + + + + 321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 + Multiple osteochondromas + + Disease + + + + + + + + 2953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 + Musculocontractural Ehlers-Danlos syndrome + + Disease + + + + + + + + 75496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 + B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome + + Clinical subtype + + + + + + + + 263463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 + CHST3-related skeletal dysplasia + + Disease + + + + + + + + 284139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 + Larsen-like syndrome, B3GAT3 type + + Malformation syndrome + + + + + + + + 363417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 + Temtamy preaxial brachydactyly syndrome + + Malformation syndrome + + + + + + + + 370930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 + XYLT1-CDG + + Disease + + + + + + + + 536467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 + B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome + + Clinical subtype + + + + + + + + + + 309458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309458 + Disorder of O-N-acetylgalactosaminylglycan synthesis + + Category + + + + + + 306661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 + Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome + + Clinical subtype + + + + + + + + + + 309463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309463 + Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis + + Category + + + + + + 3144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 + Schneckenbecken dysplasia + + Malformation syndrome + + + + + + + + + + 309469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309469 + Disorder of O-mannosylglycan synthesis + + Category + + + + + + 272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 + Congenital muscular dystrophy, Fukuyama type + + Malformation syndrome + + + + + + + + 899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 + Walker-Warburg syndrome + + Disease + + + + + + + + 588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 + Muscle-eye-brain disease + + Malformation syndrome + + + + + + + + 34515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 + FKRP-related limb-girdle muscular dystrophy R9 + + Disease + + + + + + + + 86812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 + POMT1-related limb-girdle muscular dystrophy R11 + + Disease + + + + + + + + 206554 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 + Fukutin-related limb-girdle muscular dystrophy R13 + + Disease + + + + + + + + 206559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 + POMT2-related limb-girdle muscular dystrophy R14 + + Disease + + + + + + + + 206564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 + POMGNT1-related limb-girdle muscular dystrophy R15 + + Disease + + + + + + + + 352479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 + ISPD-related limb-girdle muscular dystrophy R20 + + Disease + + + + + + + + 363623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 + GMPPB-related limb-girdle muscular dystrophy R19 + + Disease + + + + + + + + 370959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 + Congenital muscular dystrophy with cerebellar involvement + + Disease + + + + + + + + 370968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 + Congenital muscular dystrophy with intellectual disability + + Disease + + + + + + + + 370980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 + Congenital muscular dystrophy without intellectual disability + + Disease + + + + + + + + 445110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 + Limb-girdle muscular dystrophy due to POMK deficiency + + Disease + + + + + + + + + + 309505 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309505 + Disorder of fucoglycosan synthesis + + Category + + + + + + 709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 + Peters plus syndrome + + Malformation syndrome + + + + + + + + 2311 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 + Autosomal recessive spondylocostal dysostosis + + Malformation syndrome + + + + + + + + 79145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 + Dowling-Degos disease + + Disease + + + + + + + + + + + + 309515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309515 + Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + + Category + + + + + + 401820 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 + Autosomal recessive spastic paraplegia type 67 + + Disease + + + + + + + + 300496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 + Multiple congenital anomalies-hypotonia-seizures syndrome type 2 + + Malformation syndrome + + + + + + + + 370933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 + GM3 synthase deficiency + + Disease + + + + + + + + 397922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 + Ferro-cerebro-cutaneous syndrome + + Disease + + + + + + + + 447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 + Paroxysmal nocturnal hemoglobinuria + + Disease + + + + + + + + 3474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 + CHIME syndrome + + Malformation syndrome + + + + + + + + 83639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 + Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency + + Disease + + + + + + + + 247262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 + Hyperphosphatasia-intellectual disability syndrome + + Disease + + + + + + + + 280633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 + Multiple congenital anomalies-hypotonia-seizures syndrome + + Malformation syndrome + + + + + + + + 488635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 + Early-onset epilepsy-intellectual disability-brain anomalies syndrome + + Disease + + + + + + + + 369837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 + Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome + + Malformation syndrome + + + + + + + + + + 309526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309526 + Disorder of multiple glycosylation + + Category + + + + + + 602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 + GNE myopathy + + Disease + + + + + + + + 79322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 + DPM1-CDG + + Disease + + + + + + + + 79323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 + MPDU1-CDG + + Disease + + + + + + + + 79332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 + B4GALT1-CDG + + Disease + + + + + + + + 91131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 + DK1-CDG + + Disease + + + + + + + + 98873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 + Congenital dyserythropoietic anemia type II + + Disease + + + + + + + + 99843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 + Leukocyte adhesion deficiency type II + + Clinical subtype + + + + + + + + 238459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 + SLC35A1-CDG + + Disease + + + + + + + + 263494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 + DPM3-CDG + + Disease + + + + + + + + 309568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309568 + Defect in conserved oligomeric Golgi complex + + Category + + + + + + 464443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 + COG6-CGD + + Disease + + + + + + + + 79333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 + COG7-CDG + + Disease + + + + + + + + 95428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 + COG8-CDG + + Disease + + + + + + + + 263487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 + COG5-CDG + + Disease + + + + + + + + 263501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 + COG4-CDG + + Disease + + + + + + + + 263508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 + COG1-CDG + + Disease + + + + + + + + 435934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 + COG2-CDG + + Disease + + + + + + + + + + 309778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309778 + Defect in V-ATPase + + Category + + + + + + 357058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 + Autosomal recessive cutis laxa type 2A + + Disease + + + + + + 2834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 + Wrinkly skin syndrome + + Clinical subtype + + + + + + + + 357074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 + Autosomal recessive cutis laxa type 2, classic type + + Clinical subtype + + + + + + + + + + 692790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 + ATP6AP1-CDG + + Disease + + + + + + + + + + 324737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 + SRD5A3-CDG + + Disease + + + + + + + + 329178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 + Congenital muscular dystrophy with intellectual disability and severe epilepsy + + Disease + + + + + + + + 356961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 + SLC35A2-CDG + + Disease + + + + + + + + 443811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 + PGM3-CDG + + Disease + + + + + + + + 448010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 + CAD-CDG + + Disease + + + + + + + + 466703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 + TMEM199-CDG + + Disease + + + + + + + + 468684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 + CCDC115-CDG + + Disease + + + + + + + + + + + + 68366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366 + Lysosomal disease + + Category + + + + + + 306511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 + Autosomal recessive spastic paraplegia type 48 + + Disease + + + + + + + + 763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 + Pycnodysostosis + + Disease + + + + + + + + 216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 + Neuronal ceroid lipofuscinosis + + Clinical group + + + + + + 228329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 + CLN1 disease + + Disease + + + + + + 699718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 + Infantile CLN1 disease + + Clinical subtype + + + + + + + + 699739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 + Juvenile CLN1 disease + + Clinical subtype + + + + + + + + 699745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 + Adult CLN1 disease + + Clinical subtype + + + + + + + + 699734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 + Late infantile CLN1 disease + + Clinical subtype + + + + + + + + + + 228349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 + CLN2 disease + + Disease + + + + + + 699751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 + Infantile CLN2 disease + + Clinical subtype + + + + + + + + 699769 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 + Juvenile CLN2 disease + + Clinical subtype + + + + + + + + 699761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 + Late infantile CLN2 disease + + Clinical subtype + + + + + + + + + + 228346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 + CLN3 disease + + Disease + + + + + + 699780 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 + Juvenile CLN3 disease + + Clinical subtype + + + + + + + + 699796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 + Protracted juvenile CLN3 disease + + Clinical subtype + + + + + + + + + + 228343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 + CLN4 disease + + Disease + + + + + + + + 314632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 + CLN12 disease + + Disease + + + + + + + + 314629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 + CLN11 disease + + Disease + + + + + + + + 699708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 + CLN14 disease + + Disease + + + + + + + + 228360 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 + CLN5 disease + + Disease + + + + + + 699802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 + Late infantile CLN5 disease + + Clinical subtype + + + + + + + + 699807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 + Juvenile CLN5 disease + + Clinical subtype + + + + + + + + 699812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 + Adult CLN5 disease + + Clinical subtype + + + + + + + + + + 228363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 + CLN6 disease + + Disease + + + + + + 700477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 + Adult CLN6 disease + + Clinical subtype + + + + + + + + 700467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 + Late infantile CLN6 disease + + Clinical subtype + + + + + + + + 700472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 + Juvenile CLN6 disease + + Clinical subtype + + + + + + + + + + 228366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 + CLN7 disease + + Disease + + + + + + + + 228354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 + CLN8 disease + + Disease + + + + + + 700484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 + Late infantile CLN8 disease + + Clinical subtype + + + + + + + + 1947 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 + Northern epilepsy + + Clinical subtype + + + + + + + + + + 352709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 + CLN13 disease + + Disease + + + + + + + + 228337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 + CLN10 disease + + Disease + + + + + + 700487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 + Congenital CLN10 disease + + Clinical subtype + + + + + + + + 700492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 + Late infantile CLN10 disease + + Clinical subtype + + + + + + + + 700497 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 + Juvenile CLN10 disease + + Clinical subtype + + + + + + + + + + + + 35121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121 + Lysosomal acid phosphatase deficiency + + Disease + + + + + + + + 79207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207 + Disorder of lysosomal amino acid transport + + Category + + + + + + 213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 + Cystinosis + + Disease + + + + + + 411629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 + Infantile nephropathic cystinosis + + Clinical subtype + + + + + + + + 411634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 + Juvenile nephropathic cystinosis + + Clinical subtype + + + + + + + + 411641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 + Ocular cystinosis + + Clinical subtype + + + + + + + + + + 834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 + Free sialic acid storage disease + + Disease + + + + + + 309324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 + Free sialic acid storage disease, infantile form + + Clinical subtype + + + + + + + + 309331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 + Intermediate severe Salla disease + + Clinical subtype + + + + + + + + 309334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 + Salla disease + + Clinical subtype + + + + + + + + + + + + 79213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 + Mucopolysaccharidosis + + Category + + + + + + 583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 + Mucopolysaccharidosis type 6 + + Disease + + + + + + 276212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 + Mucopolysaccharidosis type 6, rapidly progressing + + Clinical subtype + + + + + + + + 276223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 + Mucopolysaccharidosis type 6, slowly progressing + + Clinical subtype + + + + + + + + + + 584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 + Mucopolysaccharidosis type 7 + + Disease + + + + + + + + 580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 + Mucopolysaccharidosis type 2 + + Disease + + + + + + 217085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 + Mucopolysaccharidosis type 2, severe form + + Clinical subtype + + + + + + + + 217093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 + Mucopolysaccharidosis type 2, attenuated form + + Clinical subtype + + + + + + + + + + 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 + + + + + + + + 93474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 + Scheie syndrome + + Clinical subtype + + + + + + + + 93476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 + Hurler-Scheie syndrome + + Clinical subtype + + + + + + + + + + 581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 + Mucopolysaccharidosis type 3 + + Disease + + + + + + 79269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 + Sanfilippo syndrome type A + + 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 + + + + + + + + 79272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 + Sanfilippo syndrome type D + + Etiological 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 + + + + + + + + 662216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 + Mucopolysaccharidosis type 10 + + Disease + + + + + + + + + + 79225 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225 + Sphingolipidosis + + Category + + + + + + 585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 + Multiple sulfatase deficiency + + Disease + + + + + + + + 333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 + Farber disease + + Disease + + + + + + + + 487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 + Krabbe disease + + Disease + + + + + + 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 + + + + + + + + 206436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 + Infantile Krabbe disease + + 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 + + + + + + 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 + + + + + + + + 309271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 + Metachromatic leukodystrophy, adult form + + 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 + + + + + + + + 77259 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 + Gaucher disease type 1 + + 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 + + + + + + + + 85212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 + Fetal Gaucher disease + + 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 + + + + + + 646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 + Niemann-Pick disease type C + + Disease + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 275761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 + Lysosomal acid lipase deficiency + + Disease + + + + + + 75233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 + Wolman disease + + Clinical subtype + + + + + + + + 75234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 + Cholesteryl ester storage disease + + 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 + + + + + + 79255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 + GM1 gangliosidosis type 1 + + Clinical subtype + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + 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 + + + + + + + + 309169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 + Sandhoff disease, adult form + + Clinical subtype + + + + + + + + + + 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 + + + + + + + + + + 309246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 + GM2 gangliosidosis, AB variant + + 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 + + + + + + + + + + + + 309279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309279 + Glycoproteinosis + + Category + + + + + + 79212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212 + Mucolipidosis + + Category + + + + + + 576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 + Mucolipidosis type II + + Disease + + + + + + + + 577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 + Mucolipidosis type III + + Disease + + + + + + 423461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 + Mucolipidosis type III alpha/beta + + Clinical subtype + + + + + + + + 423470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 + Mucolipidosis type III gamma + + Clinical subtype + + + + + + + + + + 578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 + Mucolipidosis type IV + + Disease + + + + + + + + + + 79215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215 + Oligosaccharidosis + + Category + + + + + + 61 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 + Alpha-mannosidosis + + Disease + + + + + + 309282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 + Alpha-mannosidosis, infantile form + + Clinical subtype + + + + + + + + 309288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 + Alpha-mannosidosis, adult form + + Clinical subtype + + + + + + + + + + 93 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 + Aspartylglucosaminuria + + Disease + + + + + + + + 118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 + Beta-mannosidosis + + Disease + + + + + + + + 349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 + Fucosidosis + + Disease + + + + + + + + 351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 + Galactosialidosis + + Disease + + + + + + + + 3137 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 + Alpha-N-acetylgalactosaminidase deficiency + + Disease + + + + + + 79279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 + Alpha-N-acetylgalactosaminidase deficiency type 1 + + Clinical subtype + + + + + + + + 79280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 + Alpha-N-acetylgalactosaminidase deficiency type 2 + + Clinical subtype + + + + + + + + 79281 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 + Alpha-N-acetylgalactosaminidase deficiency type 3 + + Clinical subtype + + + + + + + + + + 309294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 + Sialidosis + + Clinical group + + + + + + 812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 + Sialidosis type 1 + + Disease + + + + + + + + 87876 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 + Sialidosis type 2 + + Disease + + + + + + 93399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 + Juvenile sialidosis type 2 + + Clinical subtype + + + + + + + + 93400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 + Congenital sialidosis type 2 + + Clinical subtype + + + + + + + + + + + + + + + + 309319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309319 + Disorder of sialic acid metabolism + + Category + + + + + + 3166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 + Sialuria + + Disease + + + + + + + + + + 309337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309337 + Lysosomal glycogen storage disease + + Category + + + + + + 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 + + + + + + + + + + 34587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 + Danon disease + + Disease + + + + + + + + + + + + 68373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68373 + Peroxisomal disease + + Category + + + + + + 79189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 + Peroxisome biogenesis disorder + + Clinical group + + + + + + 912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 + Zellweger syndrome + + Disease + + + + + + + + 44 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 + Neonatal adrenoleukodystrophy + + Disease + + + + + + + + 772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 + Infantile Refsum disease + + 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 + + + + + + 773 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 + Adult Refsum disease + + Disease + + + + + + + + 926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 + Acatalasemia + + Disease + + + + + + + + 35706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 + Glutaric acidemia type 3 + + Disease + + + + + + + + 79095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 + Congenital bile acid synthesis defect type 4 + + Disease + + + + + + + + 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 + + + + + + + + 43 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 + X-linked adrenoleukodystrophy + + Disease + + + + + + 139396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 + X-linked cerebral adrenoleukodystrophy + + Clinical subtype + + + + + + + + 139399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 + Adrenomyeloneuropathy + + Clinical subtype + + + + + + + + + + 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 + + + + + + + + + + 93598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 + Primary hyperoxaluria type 1 + + Clinical subtype + + + + + + + + + + 369942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 + CADDS + + Disease + + + + + + + + 3276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3276 + Disorder of plasmalogens biosynthesis + + Category + + + + + + 177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 + Rhizomelic chondrodysplasia punctata + + Disease + + + + + + 309803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 + Rhizomelic chondrodysplasia punctata type 3 + + Etiological subtype + + + + + + + + 309789 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 + Rhizomelic chondrodysplasia punctata type 1 + + Etiological subtype + + + + + + + + 309796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 + Rhizomelic chondrodysplasia punctata type 2 + + Etiological subtype + + + + + + + + 468717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 + Rhizomelic chondrodysplasia punctata type 5 + + Etiological subtype + + + + + + + + + + 438178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 + Fatty acyl-CoA reductase 1 deficiency + + Disease + + + + + + + + + + 642954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 + Autosomal recessive ataxia due to PEX16 deficiency + + Disease + + + + + + + + 642965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 + Autosomal recessive ataxia due to PEX2 deficiency + + Disease + + + + + + + + 95433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 + Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome + + Disease + + + + + + + + 247815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 + Autosomal recessive ataxia due to PEX10 deficiency + + Disease + + + + + + + + + + 79062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062 + Disorder of amino acid and other organic acid metabolism + + Category + + + + + + 468726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 + Severe primary trimethylaminuria + + Disease + + + + + + + + 79166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166 + Disorder of amino acid absorption and transport + + Category + + + + + + 534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 + Oculocerebrorenal syndrome of Lowe + + 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 + + + + + + + + + + 2195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 + Dicarboxylic aminoaciduria + + Disease + + + + + + + + 470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 + Lysinuric protein intolerance + + Disease + + + + + + + + 94086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086 + Blue diaper 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 + + + + + + + + + + 308451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308451 + Disorder of neutral amino acid transport + + Category + + + + + + 2116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 + Hartnup disease + + Disease + + + + + + + + 42062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 + Iminoglycinuria + + Disease + + + + + + + + + + 363429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 + Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome + + Disease + + + + + + 324262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 + Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency + + Clinical subtype + + + + + + + + 363432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 + Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency + + Clinical subtype + + + + + + + + + + + + 79167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167 + Disorder of urea cycle metabolism and ammonia detoxification + + Category + + + + + + 90 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 + Argininemia + + Disease + + + + + + + + 23 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 + Argininosuccinic aciduria + + Disease + + + + + + + + 147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 + Carbamoyl-phosphate synthetase 1 deficiency + + Disease + + + + + + + + 187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 + Citrullinemia + + Category + + + + + + 247525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525 + Citrullinemia type I + + Disease + + + + + + 247546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 + Acute neonatal citrullinemia type I + + Clinical subtype + + + + + + + + 247573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 + Late-onset citrullinemia type I + + Clinical subtype + + + + + + + + + + 247582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582 + Citrin deficiency + + Category + + + + + + 247585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 + Citrullinemia type II + + Disease + + + + + + + + 247598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 + Neonatal intrahepatic cholestasis due to citrin deficiency + + Disease + + + + + + + + + + + + 415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 + Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome + + Disease + + + + + + + + 927 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 + Hyperammonemia due to N-acetylglutamate synthase deficiency + + Disease + + + + + + + + 35878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 + Hyperinsulinism-hyperammonemia syndrome + + Disease + + + + + + + + 401948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 + Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + + Disease + + + + + + + + 664 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 + Ornithine transcarbamylase deficiency + + Disease + + + + + + + + + + 79173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173 + Disorder of methionine cycle and sulfur amino acid metabolism + + Category + + + + + + 562538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 + Autosomal recessive extra-oral halitosis + + Disease + + + + + + + + 619979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 + Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome + + Disease + + + + + + + + 394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 + Homocystinuria due to cystathionine beta-synthase deficiency + + Disease + + + + + + + + 833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 + Encephalopathy due to sulfite oxidase deficiency + + Disease + + + + + + 99731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 + Isolated sulfite oxidase deficiency + + Clinical subtype + + + + + + + + 99732 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency + + Clinical subtype + + + + + + 308386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A + + Etiological subtype + + + + + + + + 308393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B + + Etiological subtype + + + + + + + + 308400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C + + Etiological subtype + + + + + + + + + + + + 212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 + Cystathioninuria + + Disease + + + + + + + + 622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 + Homocystinuria without methylmalonic aciduria + + Disease + + + + + + 2169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 + Methylcobalamin deficiency type cblE + + Clinical subtype + + + + + + + + 2170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 + Methylcobalamin deficiency type cblG + + Clinical subtype + + + + + + + + 308380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 + Methylcobalamin deficiency type cblDv1 + + Clinical subtype + + + + + + + + + + 88618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 + S-adenosylhomocysteine hydrolase deficiency + + Disease + + + + + + + + 168598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 + Methionine adenosyltransferase I/III deficiency + + Disease + + + + + + + + 289290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 + Hypermethioninemia encephalopathy due to adenosine kinase deficiency + + Disease + + + + + + + + 289891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 + Hypermethioninemia due to glycine N-methyltransferase deficiency + + Disease + + + + + + + + 1035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 + Beta-mercaptolactate cysteine disulfiduria + + Biological anomaly + + + + + + + + + + 79181 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181 + Disorder of histidine metabolism + + Category + + + + + + 2157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 + Histidinemia + + Disease + + + + + + + + 210128 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 + Urocanic aciduria + + Disease + + + + + + + + 2158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158 + Histidinuria-renal tubular defect syndrome + + Disease + + + + + + + + + + 79185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185 + Disorder of ornithine or proline metabolism + + Category + + + + + + 289866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866 + Disorder of proline metabolism + + Category + + + + + + 2962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 + De Barsy syndrome + + Disease + + + + + + 35664 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 + ALDH18A1-related De Barsy syndrome + + Etiological subtype + + + + + + + + 293633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 + PYCR1-related De Barsy syndrome + + Etiological subtype + + + + + + + + + + 419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 + Hyperprolinemia type 1 + + Disease + + + + + + + + 79101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 + Hyperprolinemia type 2 + + Disease + + + + + + + + 90350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 + Autosomal recessive cutis laxa type 2 + + Clinical group + + + + + + 357058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 + Autosomal recessive cutis laxa type 2A + + Disease + + + + + + 2834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 + Wrinkly skin syndrome + + Clinical subtype + + + + + + + + 357074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 + Autosomal recessive cutis laxa type 2, classic type + + Clinical subtype + + + + + + + + + + 357064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 + Autosomal recessive cutis laxa type 2B + + Disease + + + + + + + + + + + + 289869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289869 + Disorder of ornithine metabolism + + Category + + + + + + 414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 + Gyrate atrophy of choroid and retina + + Disease + + + + + + + + 544488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 + Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome + + Disease + + + + + + + + + + + + 79187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187 + Disorder of peptide metabolism + + Category + + + + + + 1361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 + Carnosinase deficiency + + Biological anomaly + + + + + + + + 742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 + Prolidase deficiency + + Disease + + + + + + + + + + 79190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190 + Disorder of phenylalanin or tyrosine metabolism + + Category + + + + + + 284814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814 + Disorder of phenylalanine metabolism + + Category + + + + + + 708881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708881 + Phenylalanine hydroxylase deficiency + + Clinical group + + + + + + 716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 + Phenylketonuria + + Disease + + + + + + 293284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 + Tetrahydrobiopterin-responsive phenylketonuria + + Clinical subtype + + + + + + + + 708895 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708895 + Tetrahydrobiopterin-unresponsive phenylketonuria + + Clinical subtype + + + + + + + + + + 79651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 + Mild hyperphenylalaninemia + + Clinical subtype + + + + + + + + 2209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 + Maternal phenylketonuria syndrome + + Malformation syndrome + + + + + + + + + + + + 284818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818 + Disorder of tyrosine metabolism + + Category + + + + + + 56 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 + Alkaptonuria + + Disease + + + + + + + + 2118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 + Hawkinsinuria + + Disease + + + + + + + + 3402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402 + Transient tyrosinemia of the newborn + + Disease + + + + + + + + 882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 + Tyrosinemia type 1 + + Disease + + + + + + + + 28378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 + Tyrosinemia type 2 + + Disease + + + + + + + + 69723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 + Tyrosinemia type 3 + + Disease + + + + + + + + 101150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 + Autosomal recessive dopa-responsive dystonia + + Disease + + + + + + + + + + + + 79194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194 + Disorder of serine or glycine metabolism + + Category + + + + + + 3129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 + Sarcosinemia + + Disease + + + + + + + + 407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 + Glycine encephalopathy + + Disease + + + + + + 289857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 + Neonatal glycine encephalopathy + + Clinical subtype + + + + + + + + 289860 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 + Infantile glycine encephalopathy + + Clinical subtype + + + + + + + + 289863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 + Atypical glycine encephalopathy + + Clinical subtype + + + + + + + + + + 35705 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 + Neurometabolic disorder due to serine deficiency + + Category + + + + + + 2671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 + Neu-Laxova syndrome + + Malformation syndrome + + + + + + 583602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 + Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency + + Etiological subtype + + + + + + + + 583607 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 + Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency + + Etiological subtype + + + + + + + + 583612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 + Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency + + Etiological subtype + + + + + + + + + + 447997 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 + Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome + + Disease + + + + + + + + 583595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 + Serine biosynthesis pathway deficiency, infantile/juvenile form + + Disease + + + + + + 79351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 + 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form + + Etiological subtype + + + + + + + + 79350 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 + 3-phosphoserine phosphatase deficiency, infantile/juvenile form + + Etiological subtype + + + + + + + + 284417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 + Phosphoserine aminotransferase deficiency, infantile/juvenile form + + Etiological subtype + + + + + + + + + + + + 243343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 + Dimethylglycine dehydrogenase deficiency + + Disease + + + + + + + + + + 79196 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196 + Disorder of the gamma-glutamyl cycle + + Category + + + + + + 32 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 + Glutathione synthetase deficiency + + Disease + + + + + + 289846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 + Glutathione synthetase deficiency with 5-oxoprolinuria + + Clinical subtype + + + + + + + + 289849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 + Glutathione synthetase deficiency without 5-oxoprolinuria + + Clinical subtype + + + + + + + + + + 33572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 + 5-oxoprolinase deficiency + + Disease + + + + + + + + 33573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 + Gamma-glutamyl transpeptidase deficiency + + Disease + + + + + + + + 33574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 + Glutamate-cysteine ligase deficiency + + Disease + + + + + + + + + + 79197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197 + Disorder of branched-chain amino acid metabolism + + Category + + + + + + 511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 + Maple syrup urine disease + + Disease + + + + + + 268145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 + Classic maple syrup urine disease + + Clinical subtype + + + + + + + + 268162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 + Intermediate maple syrup urine disease + + Clinical subtype + + + + + + + + 268173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 + Intermittent maple syrup urine disease + + Clinical subtype + + + + + + + + 268184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 + Thiamine-responsive maple syrup urine disease + + Clinical subtype + + + + + + + + + + 289307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 + Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency + + Disease + + + + + + + + 308410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 + Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency + + Disease + + + + + + + + 401948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 + Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + + Disease + + + + + + + + + + 289829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829 + Disorder of tryptophan metabolism + + Category + + + + + + 2224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 + Hypertryptophanemia + + Disease + + + + + + + + 79155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 + Hydroxykynureninuria + + Disease + + + + + + + + + + 289832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832 + Disorder of lysine and hydroxylysine metabolism + + Category + + + + + + 2203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 + Hyperlysinemia + + Disease + + + + + + + + 3124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 + Saccharopinuria + + Disease + + + + + + + + 79154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 + 2-aminoadipic 2-oxoadipic aciduria + + Disease + + + + + + + + 79156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 + Seizures-intellectual disability due to hydroxylysinuria syndrome + + Disease + + + + + + + + + + 289841 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841 + Disorder of glutamine metabolism + + Category + + + + + + 557056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 + Spastic ataxia-dysarthria due to glutaminase deficiency + + Disease + + + + + + + + 557064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 + Neonatal epileptic encephalopathy due to glutaminase deficiency + + Disease + + + + + + + + 71278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 + Congenital brain dysgenesis due to glutamine synthetase deficiency + + Disease + + + + + + + + + + 289899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899 + Organic aciduria + + Category + + + + + + 79158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158 + Cerebral organic aciduria + + Category + + + + + + 653880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880 + Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency + + Disease + + + + + + + + 19 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 + 2-hydroxyglutaric aciduria + + Clinical group + + + + + + 79314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 + L-2-hydroxyglutaric aciduria + + Disease + + + + + + + + 79315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 + D-2-hydroxyglutaric aciduria + + Disease + + + + + + + + 356978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 + D,L-2-hydroxyglutaric aciduria + + Disease + + + + + + + + + + 25 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 + Glutaryl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 308448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308448 + Aminoacylase deficiency + + Clinical group + + + + + + 141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 + Canavan disease + + Disease + + + + + + 314911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 + Severe Canavan disease + + Clinical subtype + + + + + + + + 314918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 + Mild Canavan disease + + Clinical subtype + + + + + + + + + + 137754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 + Aminoacylase 1 deficiency + + Disease + + + + + + + + + + 391417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 + HSD10 disease + + Disease + + + + + + 85295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 + HSD10 disease, atypical type + + Clinical subtype + + + + + + + + 391428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 + HSD10 disease, infantile type + + Clinical subtype + + + + + + + + 391457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 + HSD10 disease, neonatal type + + Clinical subtype + + + + + + + + + + + + 79163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163 + Classic organic aciduria + + Category + + + + + + 33 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 + Isovaleric acidemia + + Disease + + + + + + + + 148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 + Multiple carboxylase deficiency + + Clinical group + + + + + + + + 26 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 + Methylmalonic acidemia with homocystinuria + + Disease + + + + + + 79282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 + Methylmalonic acidemia with homocystinuria, type cblC + + Clinical subtype + + + + + + + + 79283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 + Methylmalonic acidemia with homocystinuria, type cblD + + Clinical subtype + + + + + + + + 79284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 + Methylmalonic acidemia with homocystinuria type cblF + + Clinical subtype + + + + + + + + 369955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 + Methylmalonic acidemia with homocystinuria, type cblJ + + Clinical subtype + + + + + + + + 369962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 + Methylmalonic acidemia with homocystinuria, type cblX + + Clinical subtype + + + + + + + + + + 134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 + Beta-ketothiolase deficiency + + Disease + + + + + + + + 939 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939 + 3-hydroxyisobutyric aciduria + + Disease + + + + + + + + 20 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 + 3-hydroxy-3-methylglutaric aciduria + + Disease + + + + + + + + 6 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 + 3-methylcrotonyl-CoA carboxylase deficiency + + Disease + + + + + + + + 35 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 + Propionic acidemia + + Disease + + + + + + + + 79157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 + 2-methylbutyryl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 79159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 + Isobutyryl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 88639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 + Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency + + Disease + + + + + + + + 289504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 + Combined malonic and methylmalonic acidemia + + Disease + + + + + + + + 289902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902 + 3-methylglutaconic aciduria + + Clinical group + + + + + + 505208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 + 3-methylglutaconic aciduria type 8 + + Disease + + + + + + + + 111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 + Barth syndrome + + Disease + + + + + + + + 66634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 + Dilated cardiomyopathy with ataxia + + Disease + + + + + + + + 67046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 + 3-methylglutaconic aciduria type 1 + + Disease + + + + + + + + 67047 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 + 3-methylglutaconic aciduria type 3 + + Disease + + + + + + + + 67048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 + 3-methylglutaconic aciduria type 4 + + Disease + + + + + + + + 352328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 + MEGDEL syndrome + + Disease + + + + + + + + 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 + + + + + + + + 505216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 + 3-methylglutaconic aciduria type 9 + + Disease + + + + + + + + + + 293355 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355 + Methylmalonic acidemia without homocystinuria + + Clinical group + + + + + + 27 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 + Vitamin B12-unresponsive methylmalonic acidemia + + Disease + + + + + + 79312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 + Vitamin B12-unresponsive methylmalonic acidemia type mut- + + Clinical subtype + + + + + + + + 289916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 + Vitamin B12-unresponsive methylmalonic acidemia type mut0 + + Clinical subtype + + + + + + + + + + 28 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 + Vitamin B12-responsive methylmalonic acidemia + + Disease + + + + + + 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 + + + + + + + + 308442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 + Vitamin B12-responsive methylmalonic acidemia, type cblDv2 + + Clinical subtype + + + + + + + + + + 308425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 + Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency + + Disease + + + + + + + + + + + + + + 308407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308407 + Disorder of beta and omega amino acid metabolism + + Category + + + + + + 2066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 + Gamma-aminobutyric acid transaminase deficiency + + Disease + + + + + + + + + + 352728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352728 + Disorder of melanin metabolism + + Category + + + + + + 55 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 + Oculocutaneous albinism + + Clinical group + + + + + + 79432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 + Oculocutaneous albinism type 2 + + Disease + + + + + + + + 79433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 + Oculocutaneous albinism type 3 + + Disease + + + + + + + + 79435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 + Oculocutaneous albinism type 4 + + Disease + + + + + + + + 352731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 + Oculocutaneous albinism type 1 + + Disease + + + + + + 79431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 + Oculocutaneous albinism type 1A + + Clinical subtype + + + + + + + + 79434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 + Oculocutaneous albinism type 1B + + Clinical subtype + + + + + + + + 352734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 + Minimal pigment oculocutaneous albinism type 1 + + Clinical subtype + + + + + + + + 352737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 + Temperature-sensitive oculocutaneous albinism type 1 + + Clinical subtype + + + + + + + + + + 352745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 + Oculocutaneous albinism type 7 + + Disease + + + + + + + + 370091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 + Oculocutaneous albinism type 5 + + Disease + + + + + + + + 370097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 + Oculocutaneous albinism type 6 + + Disease + + + + + + + + 597733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 + Oculocutaneous albinism type 8 + + Disease + + + + + + + + + + 284804 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804 + Ocular albinism + + Clinical group + + + + + + 1000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 + Ocular albinism with late-onset sensorineural deafness + + Disease + + + + + + + + 54 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 + X-linked recessive ocular albinism + + Disease + + + + + + + + + + + + 391381 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391381 + Disorder of asparagine metabolism + + Category + + + + + + 391376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 + Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome + + Disease + + + + + + + + + + + + 79161 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161 + Disorder of carbohydrate metabolism + + Category + + + + + + 79177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177 + Gluconeogenesis disorder + + Category + + + + + + 348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 + Fructose-1,6-bisphosphatase deficiency + + Disease + + + + + + + + 2880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 + Phosphoenolpyruvate carboxykinase deficiency + + Disease + + + + + + + + 3008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 + Pyruvate carboxylase deficiency + + Disease + + + + + + 353308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 + Pyruvate carboxylase deficiency, infantile type + + Clinical subtype + + + + + + + + 353314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 + Pyruvate carboxylase deficiency, severe neonatal type + + Clinical subtype + + + + + + + + 353320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 + Pyruvate carboxylase deficiency, benign type + + Clinical subtype + + + + + + + + + + 401948 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 + Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency + + Disease + + + + + + + + + + 79179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179 + Disorder of glycerol metabolism + + Category + + + + + + 308993 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308993 + Glycerol kinase deficiency + + Clinical group + + + + + + 408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 + Isolated glycerol kinase deficiency + + Disease + + + + + + 284411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 + Glycerol kinase deficiency, juvenile form + + Clinical subtype + + + + + + + + 284414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 + Glycerol kinase deficiency, adult form + + Clinical subtype + + + + + + + + + + 261476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 + Xp21 deletion syndrome + + Disease + + + + + + + + + + + + 79201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201 + Glycogen storage disease + + Category + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 + Glycogen storage disease due to muscle glycogen phosphorylase deficiency + + Disease + + + + + + + + 369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 + Glycogen storage disease due to liver glycogen phosphorylase deficiency + + Disease + + + + + + + + 371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 + Glycogen storage disease due to muscle phosphofructokinase deficiency + + Disease + + + + + + + + 370 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 + Glycogen storage disease due to phosphorylase kinase deficiency + + Clinical group + + + + + + 715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 + Glycogen storage disease due to muscle phosphorylase kinase deficiency + + Disease + + + + + + + + 79240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 + Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency + + Disease + + + + + + + + 264580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 + Glycogen storage disease due to liver phosphorylase kinase deficiency + + 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 + + + + + + + + + + 57 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 + Glycogen storage disease due to aldolase A deficiency + + Disease + + + + + + + + 713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 + Glycogen storage disease due to phosphoglycerate kinase 1 deficiency + + Disease + + + + + + + + 2088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 + Fanconi-Bickel syndrome + + Disease + + + + + + + + 2364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364 + Glycogen storage disease due to lactate dehydrogenase deficiency + + Disease + + + + + + 284426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 + Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency + + Clinical subtype + + + + + + + + 284435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 + Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency + + Clinical subtype + + + + + + + + + + 34587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 + Danon disease + + Disease + + + + + + + + 97234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 + Glycogen storage disease due to phosphoglycerate mutase deficiency + + Disease + + + + + + + + 99849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 + Glycogen storage disease due to muscle beta-enolase deficiency + + Disease + + + + + + + + 263297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 + Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency + + Disease + + + + + + + + 308520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308520 + Glycogen storage disease due to glycogen synthase deficiency + + Clinical group + + + + + + 2089 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 + Glycogen storage disease due to hepatic glycogen synthase 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 + + + + + + + + + + 397937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 + Polyglucosan body myopathy type 1 + + 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 + + + + + + + + 319646 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 + PGM1-CDG + + Disease + + + + + + + + 456369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 + Polyglucosan body myopathy type 2 + + Disease + + + + + + + + + + 308459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308459 + Disorder of glycolysis + + Category + + + + + + 868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 + Triose phosphate-isomerase deficiency + + Disease + + + + + + + + 712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 + Hemolytic anemia due to glucophosphate isomerase deficiency + + Disease + + + + + + + + 79299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 + Congenital glucokinase-related hyperinsulinism + + Disease + + + + + + + + + + 308463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308463 + Disorder of fructose metabolism + + Category + + + + + + 469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 + Hereditary fructose intolerance + + Disease + + + + + + + + 348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 + Fructose-1,6-bisphosphatase deficiency + + Disease + + + + + + + + 2056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 + Essential fructosuria + + Disease + + + + + + + + + + 308467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308467 + Disorder of galactose metabolism + + Category + + + + + + 352 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 + Galactosemia + + Category + + + + + + 79237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 + Galactokinase deficiency + + Disease + + + + + + + + 79238 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 + Galactose epimerase deficiency + + Disease + + + + + + 308473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 + Erythrocyte galactose epimerase deficiency + + Clinical subtype + + + + + + + + 308487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 + Generalized galactose epimerase deficiency + + Clinical subtype + + + + + + + + + + 79239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 + Classic galactosemia + + Disease + + + + + + + + 570422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 + Galactose mutarotase deficiency + + Disease + + + + + + + + + + + + 308998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308998 + Disorder of glyoxylate metabolism + + Category + + + + + + 941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 + D-glyceric aciduria + + Disease + + + + + + + + 416 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 + Primary hyperoxaluria + + Disease + + + + + + 93598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 + Primary hyperoxaluria type 1 + + Clinical subtype + + + + + + + + 93599 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 + Primary hyperoxaluria type 2 + + Clinical subtype + + + + + + + + 93600 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 + Primary hyperoxaluria type 3 + + Clinical subtype + + + + + + + + + + + + 309001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309001 + Disorder of carbohydrate absorption and transport + + Category + + + + + + 469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 + Hereditary fructose intolerance + + Disease + + + + + + + + 35122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 + Congenital sucrase-isomaltase deficiency + + Disease + + + + + + + + 53690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 + Congenital lactase deficiency + + Disease + + + + + + + + 79178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178 + Glucose transport disorder + + Category + + + + + + 2088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 + Fanconi-Bickel syndrome + + Disease + + + + + + + + 35710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 + Glucose-galactose malabsorption + + Disease + + + + + + + + 69076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 + Familial renal glucosuria + + Disease + + + + + + + + 71277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 + Classic glucose transporter type 1 deficiency syndrome + + Disease + + + + + + + + + + 103907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 + Chronic diarrhea due to glucoamylase deficiency + + Disease + + + + + + + + 103909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 + Trehalase deficiency + + Disease + + + + + + + + 165991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 + Exercise-induced hyperinsulinism + + Disease + + + + + + + + 247794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 + Juvenile cataract-microcornea-renal glucosuria syndrome + + Disease + + + + + + + + + + 440701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440701 + Disorders of pentose/polyol metabolism + + Category + + + + + + 2843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 + Pentosuria + + Disease + + + + + + + + 79186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186 + Disorder of pentose phosphate metabolism + + Category + + + + + + 488618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 + Transketolase deficiency + + Malformation syndrome + + + + + + + + 101028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 + Transaldolase deficiency + + Disease + + + + + + + + 440706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 + Ribose-5-P isomerase deficiency + + Disease + + + + + + + + 440713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 + Isolated sedoheptulokinase deficiency + + Disease + + + + + + + + + + + + + + 79200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200 + Disorder of energy metabolism + + Category + + + + + + 68380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380 + Mitochondrial disease + + Category + + + + + + 223713 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713 + Mitochondrial oxidative phosphorylation disorder + + Category + + + + + + 2443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 + Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies + + Category + + + + + + 527276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 + Encephalopathy due to mitochondrial and peroxisomal fission defect + + Disease + + + + + + 330050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 + DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect + + Etiological subtype + + + + + + + + 485421 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 + MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect + + Etiological subtype + + + + + + + + + + 611237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 + Parkinsonism with polyneuropathy + + Disease + + + + + + + + 506 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 + Leigh syndrome + + Disease + + + + + + + + 1561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 + Fatal infantile cytochrome C oxidase deficiency + + Disease + + + + + + + + 35656 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 + Coenzyme Q10 deficiency + + Clinical group + + + + + + 139485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 + Autosomal recessive ataxia due to ubiquinone deficiency + + Disease + + + + + + + + 254898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 + Deafness-encephaloneuropathy-obesity-valvulopathy syndrome + + 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 + + + + + + + + 319678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 + Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome + + Disease + + + + + + + + 457185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 + Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome + + Disease + + + + + + + + 658778 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 + COQ7-related distal hereditary motor neuropathy + + Disease + + + + + + + + + + 35696 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696 + Mitochondrial disorder due to a defect in mitochondrial protein synthesis + + Category + + + + + + 2598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 + Mitochondrial myopathy and sideroblastic anemia + + Disease + + + + + + + + 2855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 + Perrault syndrome + + Disease + + + + + + 642945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 + Perrault syndrome type 1 + + Clinical subtype + + + + + + + + 642976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 + Perrault syndrome type 2 + + Clinical subtype + + + + + + + + + + 99013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 + Spastic paraplegia type 7 + + Disease + + + + + + + + 101109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 + Spinocerebellar ataxia type 28 + + Disease + + + + + + + + 137681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 + Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 + + Disease + + + + + + + + 137898 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 + Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome + + Disease + + + + + + + + 137908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 + Hypotonia with lactic acidemia and hyperammonemia + + Disease + + + + + + + + 166073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 + Pontocerebellar hypoplasia type 6 + + Malformation syndrome + + + + + + + + 168566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 + Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 + + Disease + + + + + + + + 217371 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 + Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins + + Disease + + + + + + + + 238329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 + Severe X-linked mitochondrial encephalomyopathy + + Disease + + + + + + + + 254343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 + Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome + + Disease + + + + + + + + 254920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 + Combined oxidative phosphorylation defect type 2 + + Disease + + + + + + + + 254925 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 + Combined oxidative phosphorylation defect type 4 + + Disease + + + + + + + + 314051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 + Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome + + Disease + + + + + + + + 314603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 + Autosomal recessive spastic ataxia with leukoencephalopathy + + 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 + + + + + + + + 319504 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 + Combined oxidative phosphorylation defect type 8 + + Disease + + + + + + + + 319509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 + Combined oxidative phosphorylation defect type 9 + + Disease + + + + + + + + 319514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 + Combined oxidative phosphorylation defect type 13 + + Disease + + + + + + + + 319519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 + Combined oxidative phosphorylation defect type 14 + + Disease + + + + + + + + 319524 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 + Combined oxidative phosphorylation defect type 15 + + Disease + + + + + + + + 324535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 + Combined oxidative phosphorylation defect type 11 + + Disease + + + + + + + + 352563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 + Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency + + Disease + + + + + + + + 363694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 + Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome + + Disease + + + + + + + + 369913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 + Combined oxidative phosphorylation defect type 17 + + Disease + + + + + + + + 420728 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 + Combined oxidative phosphorylation defect type 20 + + Disease + + + + + + + + 420733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 + Combined oxidative phosphorylation defect type 21 + + Disease + + + + + + + + 436174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 + Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome + + Disease + + + + + + + + 444013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 + Combined oxidative phosphorylation defect type 23 + + Disease + + + + + + + + 444458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 + Combined oxidative phosphorylation defect type 24 + + Disease + + + + + + + + 447954 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 + Combined oxidative phosphorylation defect type 25 + + Disease + + + + + + + + 565624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 + Combined oxidative phosphorylation defect type 39 + + Disease + + + + + + + + 528091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 + Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome + + Disease + + + + + + + + 457223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 + Syndromic sensorineural deafness due to combined oxidative phosphorylation defect + + Disease + + + + + + + + 478042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 + Combined oxidative phosphorylation defect type 30 + + Disease + + + + + + + + 466784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 + Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect + + Disease + + + + + + + + 477774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 + Combined oxidative phosphorylation defect type 27 + + Disease + + + + + + + + 497623 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 + C12ORF65-related combined oxidative phosphorylation defect + + Clinical group + + + + + + 254930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 + Combined oxidative phosphorylation defect type 7 + + Disease + + + + + + + + 320375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 + Autosomal recessive spastic paraplegia type 55 + + Disease + + + + + + + + + + 477684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 + Combined oxidative phosphorylation defect type 26 + + Disease + + + + + + + + 466722 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 + Autosomal recessive spastic paraplegia type 77 + + Disease + + + + + + + + 478029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 + Combined oxidative phosphorylation defect type 29 + + Disease + + + + + + + + 570491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 + QRSL1-related combined oxidative phosphorylation defect + + Disease + + + + + + + + 572798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 + WARS2-related combined oxidative phosphorylation defect + + Disease + + + + + + + + + + 199337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 + Pancreatic insufficiency-anemia-hyperostosis syndrome + + Disease + + + + + + + + 254822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822 + Mitochondrial oxidative phosphorylation disorder with no known mechanism + + Category + + + + + + 50812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 + Zellweger-like syndrome without peroxisomal anomalies + + Disease + + + + + + + + 67036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 + Autosomal dominant optic atrophy and cataract + + Disease + + + + + + + + 98673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 + Autosomal dominant optic atrophy, classic form + + Disease + + + + + + + + 166105 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 + FASTKD2-related infantile mitochondrial encephalomyopathy + + Disease + + + + + + + + 227976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 + Autosomal recessive optic atrophy, OPA7 type + + Disease + + + + + + + + 250932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 + Autosomal dominant optic atrophy and peripheral neuropathy + + Disease + + + + + + + + 391348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 + Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome + + Disease + + + + + + + + 436271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 + Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy + + Disease + + + + + + + + 457050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 + Autosomal dominant mitochondrial myopathy with exercise intolerance + + Disease + + + + + + + + + + 309136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309136 + Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes + + Category + + + + + + 543470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 + Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome + + Disease + + + + + + + + 1194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 + TMEM70-related mitochondrial encephalo-cardio-myopathy + + Disease + + + + + + + + 123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 + Björnstad syndrome + + Disease + + + + + + + + 53693 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 + GRACILE syndrome + + Disease + + + + + + + + 254843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843 + Exercise intolerance with lactic acidosis + + Clinical group + + + + + + 43115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 + Hereditary myopathy with lactic acidosis due to ISCU deficiency + + Disease + + + + + + + + 99901 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 + Acyl-CoA dehydrogenase 9 deficiency + + Disease + + + + + + + + + + 254902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 + Renal tubulopathy-encephalopathy-liver failure syndrome + + Disease + + + + + + + + 289573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 + Multiple mitochondrial dysfunctions syndrome + + Clinical group + + + + + + 569290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 + Multiple mitochondrial dysfunctions syndrome type 6 + + Disease + + + + + + + + 363424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 + Multiple mitochondrial dysfunctions syndrome type 3 + + Disease + + + + + + + + 401869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 + Multiple mitochondrial dysfunctions syndrome type 1 + + Disease + + + + + + + + 401874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 + Multiple mitochondrial dysfunctions syndrome type 2 + + Disease + + + + + + + + 457406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 + Multiple mitochondrial dysfunctions syndrome type 4 + + Disease + + + + + + + + 569274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 + Multiple mitochondrial dysfunctions syndrome type 5 + + Disease + + + + + + + + + + 352328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 + MEGDEL syndrome + + Disease + + + + + + + + 397593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 + Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency + + Disease + + + + + + + + 542585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 + Auditory neuropathy-optic atrophy syndrome + + Disease + + + + + + + + + + 330054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 + Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome + + Disease + + + + + + + + 352456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352456 + Mitochondrial DNA maintenance syndrome + + Category + + + + + + 298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 + Mitochondrial neurogastrointestinal encephalomyopathy + + Disease + + + + + + + + 35698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 + Mitochondrial DNA depletion syndrome + + Category + + + + + + 254803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 + Mitochondrial DNA depletion syndrome, encephalomyopathic form + + Clinical group + + + + + + 1933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria + + Disease + + + + + + + + 17 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 + Fatal infantile lactic acidosis with methylmalonic aciduria + + Disease + + + + + + + + 255235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy + + Disease + + + + + + + + 369897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 + Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies + + Disease + + + + + + + + + + 254871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 + Mitochondrial DNA depletion syndrome, hepatocerebral form + + Clinical group + + + + + + 1186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 + Infantile-onset spinocerebellar ataxia + + Disease + + + + + + + + 726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 + Alpers-Huttenlocher syndrome + + Disease + + + + + + + + 255229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 + Navajo neurohepatopathy + + Disease + + + + + + + + 279934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 + Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency + + Disease + + + + + + + + 363534 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 + Mitochondrial DNA depletion syndrome, hepatocerebrorenal form + + Disease + + + + + + + + + + 254875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 + Mitochondrial DNA depletion syndrome, myopathic form + + Disease + + + + + + + + 313772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 + Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome + + Disease + + + + + + + + + + 254807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807 + Multiple mitochondrial DNA deletion syndrome + + Category + + + + + + 1215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 + Autosomal dominant optic atrophy plus syndrome + + Disease + + + + + + + + 254818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818 + Ataxia neuropathy spectrum + + Clinical group + + + + + + 70595 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 + Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome + + Disease + + + + + + + + 94125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 + Recessive mitochondrial ataxia syndrome + + Disease + + + + + + + + 254881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 + Spinocerebellar ataxia with epilepsy + + Disease + + + + + + + + + + 254886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 + Autosomal recessive progressive external ophthalmoplegia + + Disease + + + + + + + + 254892 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 + Autosomal dominant progressive external ophthalmoplegia + + Disease + + + + + + + + 329314 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 + Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency + + Disease + + + + + + + + 352470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 + DNA2-related mitochondrial DNA deletion syndrome + + Disease + + + + + + + + + + 352447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 + Progressive external ophthalmoplegia-myopathy-emaciation syndrome + + Disease + + + + + + + + + + 391351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 + SURF1-related Charcot-Marie-Tooth disease type 4 + + Disease + + + + + + + + 435998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 + Autosomal recessive intermediate Charcot-Marie-Tooth disease type D + + Disease + + + + + + + + 478049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 + Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome + + Disease + + + + + + + + 70472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 + Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type + + Disease + + + + + + + + + + 254758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758 + Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies + + Category + + + + + + 254767 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767 + Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA + + Category + + + + + + 480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 + Kearns-Sayre syndrome + + Disease + + + + + + + + 699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 + Pearson syndrome + + Disease + + + + + + + + 663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 + Mitochondrial DNA-related progressive external ophthalmoplegia + + Disease + + + + + + + + 1670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 + Chronic diarrhea with villous atrophy + + Disease + + + + + + + + 329336 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 + Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy + + Disease + + + + + + + + + + 254776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776 + Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA + + Category + + + + + + 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 + + + + + + + + 104 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 + Leber hereditary optic neuropathy + + Disease + + + + + + + + 644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 + NARP syndrome + + Disease + + + + + + + + 90641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 + Rare mitochondrial non-syndromic sensorineural deafness + + Etiological subtype + + + + + + + + 99718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 + Leber plus disease + + Disease + + + + + + + + 254788 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788 + Mitochondrial DNA-related mitochondrial myopathy + + Clinical group + + + + + + 2596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 + Myopathy and diabetes mellitus + + Disease + + + + + + + + 254854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854 + Pure mitochondrial myopathy + + Disease + + + + + + + + 254857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 + Lethal infantile mitochondrial myopathy + + Disease + + + + + + + + 254864 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 + Mitochondrial myopathy with reversible cytochrome C oxidase deficiency + + Disease + + + + + + + + + + 254851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851 + Mitochondrial DNA-related dystonia + + Disease + + + + + + + + 255210 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 + Mitochondrial DNA-associated Leigh syndrome + + 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 + + + + + + + + 397750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 + Periodic paralysis with later-onset distal motor neuropathy + + Disease + + + + + + + + 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 + + + + + + + + 1349 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 + Mitochondrial DNA-related cardiomyopathy and hearing loss + + Malformation syndrome + + + + + + + + + + + + 254846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846 + Isolated oxidative phosphorylation complex disorder + + Category + + + + + + 2609 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 + Isolated complex I deficiency + + Disease + + + + + + + + 3208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 + Isolated succinate-CoQ reductase deficiency + + Disease + + + + + + + + 1460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 + Isolated complex III deficiency + + Disease + + + + + + + + 254905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 + Isolated cytochrome C oxidase deficiency + + Disease + + + + + + + + 254913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 + Isolated ATP synthase deficiency + + Disease + + + + + + + + + + + + 254827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827 + Mitochondrial membrane transport disorder + + Category + + + + + + 254830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830 + Mitochondrial substrate carrier disorder + + Category + + + + + + 1369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 + Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome + + Disease + + + + + + + + 91130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 + Cardiomyopathy-hypotonia-lactic acidosis syndrome + + Disease + + + + + + + + 255132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 + Adult-onset autosomal recessive sideroblastic anemia + + Disease + + + + + + + + 353217 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 + Epileptic encephalopathy with global cerebral demyelination + + Disease + + + + + + + + 466784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 + Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect + + Disease + + + + + + + + + + 254834 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834 + Mitochondrial protein import disorder + + Category + + + + + + 52368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 + Mohr-Tranebjaerg syndrome + + Disease + + + + + + + + + + + + 254837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837 + Unspecified mitochondrial disorder + + Clinical group + + + + + + 496790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 + Ocular anomalies-axonal neuropathy-developmental delay syndrome + + Disease + + + + + + + + 502423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 + Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome + + Disease + + + + + + + + 656279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 + 1p36.33 duplication syndrome + + Disease + + + + + + + + 2802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 + X-linked sideroblastic anemia and spinocerebellar ataxia + + Disease + + + + + + + + 51188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 + Ethylmalonic encephalopathy + + Disease + + + + + + + + 98672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672 + Autosomal dominant optic atrophy + + Clinical group + + + + + + 1215 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 + Autosomal dominant optic atrophy plus syndrome + + Disease + + + + + + + + 67036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 + Autosomal dominant optic atrophy and cataract + + Disease + + + + + + + + 98673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 + Autosomal dominant optic atrophy, classic form + + Disease + + + + + + + + 250932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 + Autosomal dominant optic atrophy and peripheral neuropathy + + Disease + + + + + + + + + + 137675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 + Histiocytoid cardiomyopathy + + Disease + + + + + + + + 2597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 + Mitochondrial myopathy-lactic acidosis-deafness syndrome + + Disease + + + + + + + + + + 401854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401854 + Lipoic acid biosynthesis defect + + Category + + + + + + 2394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 + Pyruvate dehydrogenase E3 deficiency + + Clinical subtype + + + + + + + + 289573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 + Multiple mitochondrial dysfunctions syndrome + + Clinical group + + + + + + 569290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 + Multiple mitochondrial dysfunctions syndrome type 6 + + Disease + + + + + + + + 363424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 + Multiple mitochondrial dysfunctions syndrome type 3 + + Disease + + + + + + + + 401869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 + Multiple mitochondrial dysfunctions syndrome type 1 + + Disease + + + + + + + + 401874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 + Multiple mitochondrial dysfunctions syndrome type 2 + + Disease + + + + + + + + 457406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 + Multiple mitochondrial dysfunctions syndrome type 4 + + Disease + + + + + + + + 569274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 + Multiple mitochondrial dysfunctions syndrome type 5 + + Disease + + + + + + + + + + 401859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 + Lipoic acid synthetase deficiency + + Disease + + + + + + + + 401862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862 + Lipoyl transferase 1 deficiency + + Disease + + + + + + + + 401866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 + Childhood-onset spasticity with hyperglycinemia + + Disease + + + + + + + + 447795 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 + Lipoyl transferase 2 deficiency + + Biological anomaly + + + + + + + + 508093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 + MEPAN syndrome + + Malformation syndrome + + + + + + + + + + + + 79172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 + Creatine deficiency syndrome + + Clinical group + + + + + + 382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 + Guanidinoacetate methyltransferase deficiency + + Disease + + + + + + + + 35704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 + L-Arginine:glycine amidinotransferase deficiency + + Disease + + + + + + + + 52503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 + X-linked creatine transporter deficiency + + Disease + + + + + + + + + + 79174 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174 + Disorder of fatty acid oxidation and ketone body metabolism + + Category + + + + + + 79183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183 + Disorder of ketolysis + + Category + + + + + + 134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 + Beta-ketothiolase deficiency + + Disease + + + + + + + + 832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 + Succinyl-CoA:3-oxoacid CoA transferase deficiency + + Disease + + + + + + + + + + 309115 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309115 + Disorder of fatty acid oxidation and ketogenesis + + Category + + + + + + 746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 + Mitochondrial trifunctional protein deficiency + + Disease + + + + + + + + 20 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 + 3-hydroxy-3-methylglutaric aciduria + + Disease + + + + + + + + 35701 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 + 3-hydroxy-3-methylglutaryl-CoA synthase deficiency + + Disease + + + + + + + + 309120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309120 + Acyl-CoA dehydrogenase deficiency + + Clinical group + + + + + + 42 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 + Medium chain acyl-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 + + + + + + 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 + + + + + + + + 394532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 + Multiple acyl-CoA dehydrogenase deficiency, mild type + + Clinical subtype + + + + + + + + + + 26792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 + Short chain acyl-CoA dehydrogenase 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 + + + + + + + + 329942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942 + Transient neonatal multiple acyl-CoA dehydrogenase deficiency + + Disease + + + + + + + + + + 309127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309127 + 3-hydroxyacyl-CoA dehydrogenase deficiency + + Clinical group + + + + + + 5 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 + Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 71212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 + Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency + + Disease + + + + + + + + + + + + 309130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309130 + Disorder of carnitine cycle and carnitine transport + + Category + + + + + + 157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 + Carnitine palmitoyltransferase II deficiency + + Disease + + + + + + 228302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 + Carnitine palmitoyl transferase II deficiency, myopathic form + + Clinical subtype + + + + + + + + 228305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 + Carnitine palmitoyl transferase II deficiency, severe infantile form + + Clinical subtype + + + + + + + + 228308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 + Carnitine palmitoyl transferase II deficiency, neonatal form + + Clinical subtype + + + + + + + + + + 156 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 + Carnitine palmitoyl transferase 1A deficiency + + Disease + + + + + + + + 158 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 + Systemic primary carnitine deficiency + + Disease + + + + + + + + 159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 + Carnitine-acylcarnitine translocase deficiency + + Disease + + + + + + + + + + 309133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309133 + Metabolic disease due to other fatty acid oxidation disorder + + Category + + + + + + 943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 + Malonic aciduria + + Disease + + + + + + + + + + 438072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438072 + Disorder of keton body transport + + Category + + + + + + 438075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 + Ketoacidosis due to monocarboxylate transporter-1 deficiency + + Disease + + + + + + + + + + + + 254746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746 + Pyruvate metabolism disorder + + Category + + + + + + 765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 + Pyruvate dehydrogenase deficiency + + Disease + + + + + + 2394 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 + Pyruvate dehydrogenase E3 deficiency + + Clinical subtype + + + + + + + + 79243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 + Pyruvate dehydrogenase E1-alpha deficiency + + Clinical subtype + + + + + + + + 79244 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 + Pyruvate dehydrogenase E2 deficiency + + Clinical subtype + + + + + + + + 79246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 + Pyruvate dehydrogenase phosphatase deficiency + + Clinical subtype + + + + + + + + 255138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 + Pyruvate dehydrogenase E1-beta deficiency + + Clinical subtype + + + + + + + + 255182 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 + Pyruvate dehydrogenase E3-binding protein deficiency + + Clinical subtype + + + + + + + + + + 766 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 + Hemolytic anemia due to red cell pyruvate kinase deficiency + + Disease + + + + + + + + 447784 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 + Mitochondrial pyruvate carrier deficiency + + Disease + + + + + + + + + + 254749 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749 + Tricarboxylic acid cycle disorder + + Category + + + + + + 615964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964 + Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate + + Disease + + + + + + + + 31 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 + Oxoglutaric aciduria + + Disease + + + + + + + + 24 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 + Fumaric aciduria + + Disease + + + + + + + + 313850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 + Infantile cerebellar-retinal degeneration + + Disease + + + + + + + + + + + + 79214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214 + Disorder of biogenic amine metabolism and transport + + Category + + + + + + 79169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169 + Disorder of neurotransmitter metabolism and transport + + Category + + + + + + 3057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 + Monoamine oxidase A deficiency + + Disease + + + + + + + + 309819 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819 + Disorder of pterin metabolism + + Category + + + + + + 255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 + Dopa-responsive dystonia + + Clinical group + + + + + + 101150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 + Autosomal recessive dopa-responsive dystonia + + Disease + + + + + + + + 70594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 + Dopa-responsive dystonia due to sepiapterin reductase deficiency + + Disease + + + + + + + + 98808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 + Autosomal dominant dopa-responsive dystonia + + Disease + + + + + + + + + + 238583 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 + Hyperphenylalaninemia due to tetrahydrobiopterin deficiency + + Disease + + + + + + 226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 + Dihydropteridine reductase deficiency + + Clinical subtype + + + + + + + + 13 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 + 6-pyruvoyl-tetrahydropterin synthase deficiency + + Clinical subtype + + + + + + + + 2102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 + GTP cyclohydrolase I deficiency + + Clinical subtype + + + + + + + + 1578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 + Pterin-4 alpha-carbinolamine dehydratase deficiency + + Clinical subtype + + + + + + + + + + 508523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 + Hyperphenylalaninemia due to DNAJC12 deficiency + + Disease + + + + + + + + + + 309830 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309830 + Disorder of catecholamine synthesis + + Category + + + + + + 230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 + Dopamine beta-hydroxylase deficiency + + Disease + + + + + + + + 35708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 + Aromatic L-amino acid decarboxylase deficiency + + Disease + + + + + + + + + + 352649 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 + Brain dopamine-serotonin vesicular transport disease + + Disease + + + + + + + + + + 79175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175 + Disorder of gamma-aminobutyric acid metabolism + + Category + + + + + + 22 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 + Succinic semialdehyde dehydrogenase deficiency + + Disease + + + + + + + + 2066 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 + Gamma-aminobutyric acid transaminase deficiency + + Disease + + + + + + + + + + 79192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192 + Disorder of pyridoxine metabolism + + Category + + + + + + 3006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 + Pyridoxine-dependent-developmental and epileptic encephalopathy + + Disease + + + + + + + + 79096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 + Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy + + Disease + + + + + + + + + + 79219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 + Metabolic disease involving other neurotransmitter deficiency + + Category + + + + + + 3197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 + Hereditary hyperekplexia + + Disease + + + + + + + + 132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 + Hereditary butyrylcholinesterase deficiency + + Disease + + + + + + + + 79097 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 + Folinic acid-responsive seizures + + Disease + + + + + + + + + + + + 79224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224 + Disorder of purine or pyrimidine metabolism + + Category + + + + + + 79191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191 + Disorder of purine metabolism + + Category + + + + + + 124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 + Diamond-Blackfan anemia + + Disease + + + + + + + + 45 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 + Adenosine monophosphate deaminase deficiency + + Disease + + + + + + + + 760 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 + Purine nucleoside phosphorylase deficiency + + Disease + + + + + + + + 3467 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 + Hereditary xanthinuria + + Disease + + + + + + 93601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 + Xanthinuria type I + + Etiological subtype + + + + + + + + 93602 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 + Xanthinuria type II + + Etiological subtype + + + + + + + + + + 46 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 + Adenylosuccinate lyase deficiency + + Disease + + + + + + + + 976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 + Adenine phosphoribosyltransferase deficiency + + Disease + + + + + + + + 1187 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 + Lethal ataxia with deafness and optic atrophy + + Disease + + + + + + + + 3222 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 + Phosphoribosylpyrophosphate synthetase superactivity + + Disease + + + + + + 411536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 + Mild phosphoribosylpyrophosphate synthetase superactivity + + Clinical subtype + + + + + + + + 411543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 + Severe phosphoribosylpyrophosphate synthetase superactivity + + Clinical subtype + + + + + + + + + + 277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 + Severe combined immunodeficiency due to adenosine deaminase deficiency + + Disease + + + + + + + + 99014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 + X-linked Charcot-Marie-Tooth disease type 5 + + Disease + + + + + + + + 99138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 + Hemolytic anemia due to erythrocyte adenosine deaminase overproduction + + 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 + + + + + + + + + + 250977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 + AICA-ribosiduria + + Disease + + + + + + + + 279934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 + Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency + + Disease + + + + + + + + 423479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 + X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency + + Disease + + + + + + + + 457375 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 + ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement + + Disease + + + + + + + + 633099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 + PAICS deficiency + + Malformation syndrome + + + + + + + + + + 79193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193 + Disorder of pyrimidine metabolism + + Category + + + + + + 30 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 + Hereditary orotic aciduria + + Disease + + + + + + + + 1675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 + Dihydropyrimidine dehydrogenase deficiency + + Disease + + + + + + + + 298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 + Mitochondrial neurogastrointestinal encephalomyopathy + + Disease + + + + + + + + 35120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 + Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency + + Disease + + + + + + + + 38874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 + Dihydropyrimidinuria + + Disease + + + + + + + + 65287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 + Beta-ureidopropionase deficiency + + Disease + + + + + + + + 254875 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 + Mitochondrial DNA depletion syndrome, myopathic form + + Disease + + + + + + + + 309147 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 + Hyper-beta-alaninemia + + Disease + + + + + + + + 448010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 + CAD-CDG + + Disease + + + + + + + + + + + + 91088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088 + Other metabolic disease + + Category + + + + + + 657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 + Congenital isolated hyperinsulinism + + Clinical group + + + + + + 165985 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 + Diazoxide-sensitive diffuse hyperinsulinism + + Clinical group + + + + + + 35878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 + Hyperinsulinism-hyperammonemia syndrome + + Disease + + + + + + + + 71212 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 + Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency + + Disease + + + + + + + + 79299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 + Congenital glucokinase-related hyperinsulinism + + Disease + + + + + + + + 165991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 + Exercise-induced hyperinsulinism + + Disease + + + + + + + + 263455 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 + Congenital hyperinsulinism due to HNF4A deficiency + + Disease + + + + + + + + 276556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 + Hyperinsulinism due to UCP2 deficiency + + Disease + + + + + + + + 276575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 + Autosomal dominant hyperinsulinism due to SUR1 deficiency + + Disease + + + + + + + + 276580 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 + Autosomal dominant hyperinsulinism due to Kir6.2 deficiency + + Disease + + + + + + + + 324575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 + Hyperinsulinism due to HNF1A deficiency + + Disease + + + + + + + + + + 276585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585 + Diazoxide-resistant hyperinsulinism + + Clinical group + + + + + + 79298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298 + Diazoxide-resistant focal hyperinsulinism + + Clinical group + + + + + + 276598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 + Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency + + Disease + + + + + + + + 276603 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 + Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency + + Disease + + + + + + + + + + 165988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 + Diazoxide-resistant diffuse hyperinsulinism + + Clinical group + + + + + + 79643 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 + Autosomal recessive hyperinsulinism due to SUR1 deficiency + + Disease + + + + + + + + 79644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 + Autosomal recessive hyperinsulinism due to Kir6.2 deficiency + + Disease + + + + + + + + + + + + + + 289877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877 + Transient hyperammonemia of the newborn + + Particular clinical situation in a disease or syndrome + + + + + + + + 60 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 + Alpha-1-antitrypsin deficiency + + Disease + + + + + + + + 714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 + Hemolytic anemia due to diphosphoglycerate mutase deficiency + + Disease + + + + + + + + 79345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 + Brachytelephalangic chondrodysplasia punctata + + Malformation syndrome + + + + + + + + 79507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507 + Hypotonia-failure to thrive-microcephaly syndrome + + Disease + + + + + + + + 99845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 + Genetic recurrent myoglobinuria + + Disease + + + + + + + + 99846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 + Autosomal dominant myoglobinuria + + Disease + + + + + + + + 404454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 + Alacrimia-choreoathetosis-liver dysfunction syndrome + + Disease + + + + + + + + 555402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 + NAD(P)HX dehydratase deficiency + + Disease + + + + + + + + 555407 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 + NAD(P)HX epimerase deficiency + + Disease + + + + + + + + + + 309005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309005 + Disorder of lipid metabolism + + Category + + + + + + 79226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226 + Sterol metabolism disorder + + Category + + + + + + 79168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168 + Disorder of bile acid synthesis + + Category + + + + + + 84065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065 + Idiopathic malabsorption due to bile acid synthesis defects + + Disease + + + + + + + + 163631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 + Bile acid synthesis defect with cholestasis and malabsorption + + Category + + + + + + 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 + + + + + + + + + + 909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 + Cerebrotendinous xanthomatosis + + Disease + + + + + + + + 238475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 + Familial hypercholanemia + + 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 + + + + + + + + + + 209902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 + Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency + + Disease + + + + + + + + + + 79195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195 + Sterol biosynthesis disorder + + Category + + + + + + 488168 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 + Microcephaly-congenital cataract-psoriasiform dermatitis syndrome + + Malformation syndrome + + + + + + + + 1426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 + Greenberg dysplasia + + Disease + + + + + + + + 139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 + CHILD syndrome + + Disease + + + + + + + + 818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 + Smith-Lemli-Opitz syndrome + + Malformation syndrome + + + + + + + + 35107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 + Desmosterolosis + + Disease + + + + + + + + 35173 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 + X-linked dominant chondrodysplasia punctata + + Disease + + + + + + + + 46059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 + Lathosterolosis + + Disease + + + + + + + + 309025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 + Mevalonate kinase deficiency + + Disease + + + + + + 29 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 + Mevalonic aciduria + + Clinical subtype + + + + + + + + 343 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 + Hyperimmunoglobulinemia D with periodic fever + + Clinical subtype + + + + + + + + + + 401973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 + MEND syndrome + + Malformation syndrome + + + + + + + + 251383 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 + CK syndrome + + Malformation syndrome + + + + + + + + + + + + 101953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953 + Rare dyslipidemia + + Category + + + + + + 181422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422 + Rare hyperlipidemia + + Category + + + + + + 412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 + Dysbetalipoproteinemia + + Disease + + + + + + + + 181428 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 + Familial Hyperalphalipoproteinemia + + Biological anomaly + + + + + + + + 444490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 + Familial chylomicronemia syndrome + + Disease + + + + + + 309015 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 + Familial lipoprotein lipase deficiency + + Etiological subtype + + + + + + + + 309020 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 + Familial apolipoprotein C-II deficiency + + Etiological subtype + + + + + + + + 535453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 + Familial lipase maturation factor 1 deficiency + + Etiological subtype + + + + + + + + 535458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 + Familial GPIHBP1 deficiency + + Etiological subtype + + + + + + + + 530849 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 + Familial apolipoprotein A5 deficiency + + Etiological subtype + + + + + + + + + + 140905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 + Hyperlipidemia due to hepatic triacylglycerol lipase deficiency + + Disease + + + + + + + + 477811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811 + Rare hypercholesterolemia + + Category + + + + + + 209902 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 + Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency + + Disease + + + + + + + + 391665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 + Homozygous familial hypercholesterolemia + + Disease + + + + + + + + 466703 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 + TMEM199-CDG + + Disease + + + + + + + + 468684 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 + CCDC115-CDG + + 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 + + + + + + + + + + + + 181431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431 + Rare hypolipidemia + + Category + + + + + + 31153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153 + Hypoalphalipoproteinemia + + Clinical group + + + + + + 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 + + + + + + + + + + 425 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 + Apolipoprotein A-I deficiency + + Disease + + + + + + + + 31150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 + Tangier disease + + Disease + + + + + + + + + + 31154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154 + Hypobetalipoproteinemia + + Clinical group + + + + + + 14 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 + Abetalipoproteinemia + + Disease + + + + + + + + 71 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 + Chylomicron retention disease + + Disease + + + + + + + + + + + + 181437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437 + Rare syndromic dyslipidemia + + Category + + + + + + 909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 + Cerebrotendinous xanthomatosis + + Disease + + + + + + + + 2882 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 + Sitosterolemia + + Disease + + + + + + + + 275761 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 + Lysosomal acid lipase deficiency + + Disease + + + + + + 75233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 + Wolman disease + + Clinical subtype + + + + + + + + 75234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 + Cholesteryl ester storage disease + + Clinical subtype + + + + + + + + + + 329481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 + Lipoprotein glomerulopathy + + Disease + + + + + + + + + + + + 309028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 + Disorder of lipid absorption and transport + + Category + + + + + + 309031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 + Pancreatic triacylglycerol lipase deficiency + + Disease + + + + + + + + 309108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 + Pancreatic colipase deficiency + + Disease + + + + + + + + 309111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 + Combined pancreatic lipase-colipase deficiency + + Disease + + + + + + + + + + 352301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352301 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis + + Category + + + + + + 352306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352306 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement + + Category + + + + + + 615938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 + Spastic paraparesis-cataracts-speech delay syndrome + + Clinical syndrome + + + + + + + + 506353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 + Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction + + Disease + + + + + + + + 816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 + Sjögren-Larsson syndrome + + Disease + + + + + + + + 139480 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 + Autosomal recessive spastic paraplegia type 39 + + Disease + + + + + + + + 157850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 + Pantothenate kinase-associated neurodegeneration + + Disease + + + + + + 216866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 + Classic pantothenate kinase-associated neurodegeneration + + Clinical subtype + + + + + + + + 216873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 + Atypical pantothenate kinase-associated neurodegeneration + + Clinical subtype + + + + + + + + + + 329303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 + PLA2G6-associated neurodegeneration + + Clinical group + + + + + + 35069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 + Infantile neuroaxonal dystrophy + + Disease + + + + + + + + 199351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 + Adult-onset dystonia-parkinsonism + + Disease + + + + + + + + + + 329308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 + Fatty acid hydroxylase-associated neurodegeneration + + Disease + + + + + + + + 352328 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 + MEGDEL syndrome + + Disease + + + + + + + + 352333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 + Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome + + Disease + + + + + + + + 370933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 + GM3 synthase deficiency + + Disease + + + + + + + + 423296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 + Spinocerebellar ataxia type 38 + + Disease + + + + + + + + 424027 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 + Progressive myoclonic epilepsy type 8 + + Disease + + + + + + + + 431361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 + Progressive encephalopathy with leukodystrophy due to DECR deficiency + + Disease + + + + + + + + + + 352309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352309 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement + + Category + + + + + + 36386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 + Hereditary sensory and autonomic neuropathy type 1 + + Disease + + + + + + + + 171848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 + Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome + + Disease + + + + + + + + + + 352312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352312 + Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement + + Category + + + + + + 1369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 + Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome + + Disease + + + + + + + + 111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 + Barth syndrome + + Disease + + + + + + + + 165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 + Neutral lipid storage disease + + Clinical group + + + + + + 98907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 + Neutral lipid storage disease with ichthyosis + + Disease + + + + + + + + 98908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 + Neutral lipid storage disease with myopathy + + Disease + + + + + + + + 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 + + + + + + + + + + + + 99845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 + Genetic recurrent myoglobinuria + + Disease + + + + + + + + 280671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 + Megaconial congenital muscular dystrophy + + 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 + + + + + + + + + + + + 309340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309340 + Disorder of lysosomal-related organelles + + Category + + + + + + 167 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 + Chédiak-Higashi syndrome + + Disease + + + + + + + + 2342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 + Haim-Munk syndrome + + Disease + + + + + + + + 678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 + Papillon-Lefèvre syndrome + + Disease + + + + + + + + 79430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 + Hermansky-Pudlak syndrome + + 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 + + + + + + + + + + 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 + + + + + + + + 231512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 + Hermansky-Pudlak syndrome due to BLOC-2 deficiency + + Clinical subtype + + + + + + + + 231531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 + Hermansky-Pudlak syndrome due to BLOC-1 deficiency + + Clinical subtype + + + + + + + + + + 675782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 + Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN + + Disease + + + + + + + + + + 309813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309813 + Disorder of porphyrin and heme metabolism + + Category + + + + + + 738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 + Porphyria + + Clinical group + + + + + + 659681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 + Erythropoietic porphyria + + Clinical group + + + + + + 79277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 + Congenital erythropoietic porphyria + + Disease + + + + + + + + 79278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 + Autosomal erythropoietic protoporphyria + + Disease + + + + + + + + 443197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 + X-linked erythropoietic protoporphyria + + Disease + + + + + + + + 280379 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 + Erythropoietic uroporphyria associated with myeloid malignancy + + Disease + + + + + + + + 95159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 + Hepatoerythropoietic porphyria + + Disease + + + + + + + + 659672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 + Harderoporphyria + + Disease + + + + + + + + + + 659694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 + Hepatic porphyria + + Clinical group + + + + + + 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 + + + + + + + + + + 659698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 + Hepatic cutaneous porphyria + + Clinical group + + + + + + 101330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 + Porphyria cutanea tarda + + Disease + + + + + + 443057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 + Sporadic porphyria cutanea tarda + + Clinical subtype + + + + + + + + 443062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 + Familial porphyria cutanea tarda + + Clinical subtype + + + + + + + + + + + + + + + + 75563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 + X-linked sideroblastic anemia + + Disease + + + + + + + + 309816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309816 + Disorder of bilirubin metabolism and excretion + + Category + + + + + + 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 + + + + + + + + + + 234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 + Dubin-Johnson syndrome + + Disease + + + + + + + + 3111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 + Rotor syndrome + + Disease + + + + + + + + 172 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 + Progressive familial intrahepatic cholestasis + + Disease + + + + + + 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 + + + + + + + + 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 + + + + + + + + 480476 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 + Progressive familial intrahepatic cholestasis type 5 + + 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 + + + + + + + + + + 2697 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 + Arthrogryposis-renal dysfunction-cholestasis syndrome + + Malformation syndrome + + + + + + + + 65682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 + Benign recurrent intrahepatic cholestasis + + Disease + + + + + + 99960 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 + Benign recurrent intrahepatic cholestasis type 1 + + Clinical subtype + + + + + + + + 99961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 + Benign recurrent intrahepatic cholestasis type 2 + + Clinical subtype + + + + + + + + + + 415286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286 + Bilirubin encephalopathy + + Clinical group + + + + + + 529799 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799 + Acute bilirubin encephalopathy + + Clinical syndrome + + + + + + + + 529808 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808 + Chronic bilirubin encephalopathy + + Clinical syndrome + + + + + + + + + + + + 562509 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 + Heme oxygenase-1 deficiency + + Disease + + + + + + + + + + 309824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309824 + Disorder of metabolite absorption and transport + + Category + + + + + + 309827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309827 + Disorder of vitamin and non-protein cofactor absorption and transport + + Category + + + + + + 79171 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171 + Disorder of cobalamin metabolism and transport + + Category + + + + + + 26 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 + Methylmalonic acidemia with homocystinuria + + Disease + + + + + + 79282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 + Methylmalonic acidemia with homocystinuria, type cblC + + Clinical subtype + + + + + + + + 79283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 + Methylmalonic acidemia with homocystinuria, type cblD + + Clinical subtype + + + + + + + + 79284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 + Methylmalonic acidemia with homocystinuria type cblF + + Clinical subtype + + + + + + + + 369955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 + Methylmalonic acidemia with homocystinuria, type cblJ + + Clinical subtype + + + + + + + + 369962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 + Methylmalonic acidemia with homocystinuria, type cblX + + Clinical subtype + + + + + + + + + + 859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 + Transcobalamin deficiency + + Disease + + + + + + + + 28 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 + Vitamin B12-responsive methylmalonic acidemia + + Disease + + + + + + 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 + + + + + + + + 308442 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 + Vitamin B12-responsive methylmalonic acidemia, type cblDv2 + + Clinical subtype + + + + + + + + + + 2967 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967 + Transcobalamin I deficiency + + Disease + + + + + + + + 332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 + Congenital intrinsic factor deficiency + + Disease + + + + + + + + 622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 + Homocystinuria without methylmalonic aciduria + + Disease + + + + + + 2169 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 + Methylcobalamin deficiency type cblE + + Clinical subtype + + + + + + + + 2170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 + Methylcobalamin deficiency type cblG + + Clinical subtype + + + + + + + + 308380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 + Methylcobalamin deficiency type cblDv1 + + Clinical subtype + + + + + + + + + + 35858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 + Imerslund-Gräsbeck syndrome + + Disease + + + + + + + + 280183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 + Methylmalonic aciduria due to transcobalamin receptor defect + + Biological anomaly + + + + + + + + + + 285657 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657 + Disorder of folate metabolism and transport + + Category + + + + + + 597874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 + MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome + + Disease + + + + + + + + 658813 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 + Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency + + Disease + + + + + + + + 661412 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 + Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency + + Disease + + + + + + + + 395 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 + Homocystinuria due to methylene tetrahydrofolate reductase deficiency + + Disease + + + + + + + + 51208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 + Formiminoglutamic aciduria + + Disease + + + + + + + + 90045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 + Hereditary folate malabsorption + + Disease + + + + + + + + 217382 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 + Neurodegenerative syndrome due to cerebral folate transport deficiency + + Disease + + + + + + + + 319651 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 + Constitutional megaloblastic anemia with severe neurologic disease + + Disease + + + + + + + + + + 298644 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644 + Disorder of thiamine metabolism and transport + + Category + + + + + + 217396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 + Progressive polyneuropathy with bilateral striatal necrosis + + Disease + + + + + + + + 49827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 + Thiamine-responsive megaloblastic anemia syndrome + + Disease + + + + + + + + 65284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 + Biotin-thiamine-responsive basal ganglia disease + + Disease + + + + + + + + 199348 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 + Thiamine-responsive encephalopathy + + Disease + + + + + + + + 263410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 + Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome + + Disease + + + + + + + + 293955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 + Childhood encephalopathy due to thiamine pyrophosphokinase deficiency + + Disease + + + + + + + + 99742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 + Amish lethal microcephaly + + Malformation syndrome + + + + + + + + + + 309833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309833 + Disorder of other vitamins and cofactors metabolism and transport + + Category + + + + + + 96 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 + Ataxia with vitamin E deficiency + + Disease + + + + + + + + 79096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 + Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy + + Disease + + + + + + + + 79241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 + Biotinidase deficiency + + Disease + + + + + + + + 98434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 + Hereditary combined deficiency of vitamin K-dependent clotting factors + + Disease + + + + + + + + 99732 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency + + Clinical subtype + + + + + + 308386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A + + Etiological subtype + + + + + + + + 308393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B + + Etiological subtype + + + + + + + + 308400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 + Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C + + Etiological subtype + + + + + + + + + + 157850 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 + Pantothenate kinase-associated neurodegeneration + + Disease + + + + + + 216866 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 + Classic pantothenate kinase-associated neurodegeneration + + Clinical subtype + + + + + + + + 216873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 + Atypical pantothenate kinase-associated neurodegeneration + + Clinical subtype + + + + + + + + + + 199285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 + Hereditary hypercarotenemia and vitamin A deficiency + + Disease + + + + + + + + 352718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 + Progressive retinal dystrophy due to retinol transport defect + + Disease + + + + + + + + 411712 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 + Maternal riboflavin deficiency + + Disease + + + + + + + + 79242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 + Holocarboxylase synthetase deficiency + + Disease + + + + + + + + 521268 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268 + Sodium-dependent multivitamin transporter deficiency + + Disease + + + + + + + + + + + + 309836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309836 + Disorder of mineral absorption and transport + + Category + + + + + + 309839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309839 + Disorder of copper metabolism + + Category + + + + + + 905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 + Wilson disease + + Disease + + + + + + + + 565 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 + Menkes disease + + Disease + + + + + + + + 1551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551 + Familial benign copper deficiency + + Disease + + + + + + + + 198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 + Occipital horn syndrome + + Disease + + + + + + + + 171851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 + MEDNIK syndrome + + Disease + + + + + + + + 139557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 + X-linked distal spinal muscular atrophy type 3 + + Disease + + + + + + + + 300313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 + Congenital cataract-hearing loss-severe developmental delay syndrome + + Disease + + + + + + + + 48818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 + Aceruloplasminemia + + Disease + + + + + + + + 521411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 + Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect + + Disease + + + + + + + + + + 309842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309842 + Disorder of iron metabolism and transport + + Category + + + + + + 446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 + Neonatal hemochromatosis + + Disease + + + + + + + + 1195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 + Congenital atransferrinemia + + Disease + + + + + + + + 48818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 + Aceruloplasminemia + + Disease + + + + + + + + 83642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 + Microcytic anemia with liver iron overload + + Disease + + + + + + + + 139507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 + Dietary iron overload disease + + Disease + + + + + + + + 157846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 + Neuroferritinopathy + + Disease + + + + + + + + 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 + + + + + + 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 + + + + + + + + 79230 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 + HJV or HAMP-related hemochromatosis + + Disease + + + + + + + + + + 648581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 + Digenic hemochromatosis + + Disease + + + + + + + + + + 247790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 + FTH1-related iron overload + + Disease + + + + + + + + 440731 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 + L-ferritin deficiency + + Biological anomaly + + + + + + + + 163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 + Hereditary hyperferritinemia-cataract syndrome + + Disease + + + + + + + + 648562 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 + Ferroportin disease + + Disease + + + + + + + + + + 309845 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309845 + Disorder of zinc metabolism and transport + + Category + + + + + + 505242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 + Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome + + Disease + + + + + + + + 37 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 + Acrodermatitis enteropathica + + Disease + + + + + + + + 251523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 + Hyperzincemia and hypercalprotectinemia + + Disease + + + + + + + + + + 309848 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309848 + Disorder of magnesium transport + + Category + + + + + + 30924 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 + Primary hypomagnesemia with secondary hypocalcemia + + Disease + + + + + + + + 34528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 + Autosomal dominant primary hypomagnesemia with hypocalciuria + + Disease + + + + + + + + 199326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 + Isolated autosomal dominant hypomagnesemia, Glaudemans type + + Disease + + + + + + + + 564178 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 + Primary hypomagnesemia-refractory seizures-intellectual disability syndrome + + Disease + + + + + + + + 620363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 + Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome + + Disease + + + + + + + + 620368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 + EGF-related primary hypomagnesemia with intellectual disability + + 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 + + + + + + + + + + + + 309851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309851 + Disorder of manganese transport + + Category + + + + + + 309854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 + Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome + + Disease + + + + + + + + 468699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 + SLC39A8-CDG + + Disease + + + + + + + + 521406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 + Dystonia-parkinsonism-hypermanganesemia syndrome + + Disease + + + + + + + + + + + + + + + + +