TaoMedAI/RareMedData huggingface dataset:
ORPHA:70573 — Small cell lung cancer (OMIM: OMIM:182280)
ORPHA:70591 — Chronic thromboembolic pulmonary hypertension (OMIM: OMIM:612862)
ORPHA:70592 — Transient predisposition to invasive pyogenic bacterial infection (OMIM: OMIM:612260, OMIM:607676)
ORPHA:70594 — Dopa-responsive dystonia due to sepiapterin reductase deficiency (OMIM: OMIM:612716)
ORPHA:70595 — Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (OMIM: OMIM:607459)
ORPHA:708 — Peters anomaly (OMIM: OMIM:604229, OMIM:612968)
ORPHA:709 — Peters plus syndrome (OMIM: OMIM:261540)
ORPHA:71 — Chylomicron retention disease (OMIM: OMIM:246700)
ORPHA:710 — Pfeiffer syndrome (OMIM: OMIM:101600)
ORPHA:712 — Hemolytic anemia due to glucophosphate isomerase deficiency (OMIM: OMIM:613470)
ORPHA:71212 — Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (OMIM: OMIM:231530, OMIM:609975)
ORPHA:71271 — Split hand-split foot-deafness syndrome (OMIM: OMIM:220600)
ORPHA:71275 — Rh deficiency syndrome (OMIM: OMIM:617970, OMIM:268150)
ORPHA:71277 — Classic glucose transporter type 1 deficiency syndrome (OMIM: OMIM:606777)
ORPHA:71278 — Congenital brain dysgenesis due to glutamine synthetase deficiency (OMIM: OMIM:610015)
ORPHA:71289 — Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome (OMIM: OMIM:605432, OMIM:616738)
ORPHA:71290 — Familial platelet disorder with associated myeloid malignancy (OMIM: OMIM:601399)
ORPHA:713 — Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (OMIM: OMIM:300653)
ORPHA:714 — Hemolytic anemia due to diphosphoglycerate mutase deficiency (OMIM: OMIM:222800)
ORPHA:71493 — Familial thrombocytosis (OMIM: OMIM:187950, OMIM:601977, OMIM:614521)
ORPHA:715 — Glycogen storage disease due to muscle phosphorylase kinase deficiency (OMIM: OMIM:300559)
ORPHA:71517 — Rapid-onset dystonia-parkinsonism (OMIM: OMIM:128235)
ORPHA:71526 — Obesity due to pro-opiomelanocortin deficiency (OMIM: OMIM:601665, OMIM:609734)
ORPHA:71528 — Obesity due to prohormone convertase I deficiency (OMIM: OMIM:600955)
ORPHA:71529 — Obesity due to melanocortin 4 receptor deficiency (OMIM: OMIM:601665, OMIM:618406)
ORPHA:716 — Phenylketonuria (OMIM: OMIM:261600)
ORPHA:718 — Isolated Pierre Robin sequence (OMIM: OMIM:261800)
ORPHA:72 — Angelman syndrome (OMIM: OMIM:105830)
ORPHA:721 — Gray platelet syndrome (OMIM: OMIM:139090, OMIM:187900)
ORPHA:722 — Hypoplasminogenemia (OMIM: OMIM:217090)
ORPHA:725 — Developmental and epileptic encephalopathy with spike-wave activation in sleep (OMIM: OMIM:245570)
ORPHA:726 — Alpers-Huttenlocher syndrome (OMIM: OMIM:203700)
ORPHA:729 — Polycythemia vera (OMIM: OMIM:263300)
ORPHA:73 — Gorham-Stout disease (OMIM: OMIM:123880)
ORPHA:730 — Autosomal dominant polycystic kidney disease (OMIM: OMIM:620056, OMIM:618061, OMIM:173900, OMIM:613095, OMIM:600666)
ORPHA:731 — Autosomal recessive polycystic kidney disease (OMIM: OMIM:263200, OMIM:617610)
ORPHA:73229 — HANAC syndrome (OMIM: OMIM:611773)
ORPHA:73271 — Bleeding diathesis due to a collagen receptor defect (OMIM: OMIM:614200, OMIM:614201)
ORPHA:73272 — Growth delay due to insulin-like growth factor type 1 deficiency (OMIM: OMIM:608747)
ORPHA:73273 — Growth delay due to insulin-like growth factor I resistance (OMIM: OMIM:270450)
ORPHA:733 — Familial adenomatous polyposis (OMIM: OMIM:175100, OMIM:617100, OMIM:608456, OMIM:616415)
ORPHA:734 — Alpha delta granule deficiency (OMIM: OMIM:185050)
ORPHA:735 — Porokeratosis of Mibelli (OMIM: OMIM:175800, OMIM:175900)
ORPHA:737 — Porokeratosis plantaris palmaris et disseminata (OMIM: OMIM:175850)
ORPHA:739 — Prader-Willi syndrome (OMIM: OMIM:176270, OMIM:615547)
ORPHA:740 — Hutchinson-Gilford progeria syndrome (OMIM: OMIM:176670)
ORPHA:741 — Familial mitral valve prolapse (OMIM: OMIM:157700, OMIM:607829, OMIM:610840)
ORPHA:742 — Prolidase deficiency (OMIM: OMIM:170100)
ORPHA:743 — Severe hereditary thrombophilia due to congenital protein S deficiency (OMIM: OMIM:612336, OMIM:614514)
ORPHA:744 — Proteus syndrome (OMIM: OMIM:176920)
ORPHA:745 — Severe hereditary thrombophilia due to congenital protein C deficiency (OMIM: OMIM:612304, OMIM:176860)
ORPHA:746 — Mitochondrial trifunctional protein deficiency (OMIM: OMIM:609015)
ORPHA:747 — Autoimmune pulmonary alveolar proteinosis (OMIM: OMIM:610910)
ORPHA:749 — Congenital prekallikrein deficiency (OMIM: OMIM:612423)
ORPHA:750 — Pseudoachondroplasia (OMIM: OMIM:177170)
ORPHA:752 — 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (OMIM: OMIM:264300)
ORPHA:75233 — Wolman disease (OMIM: OMIM:278000)
ORPHA:75234 — Cholesteryl ester storage disease (OMIM: OMIM:278000)
ORPHA:75249 — Familial isolated restrictive cardiomyopathy (OMIM: OMIM:115210, OMIM:609578, OMIM:612422, OMIM:615248, OMIM:617047, OMIM:619433)
ORPHA:753 — 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency (OMIM: OMIM:264600)
ORPHA:75325 — Osteosclerosis-ichthyosis-premature ovarian failure syndrome (OMIM: OMIM:609993)
ORPHA:75326 — Familial isolated retinal arteriolar tortuosity (OMIM: OMIM:180000)
ORPHA:75327 — North Carolina macular dystrophy (OMIM: OMIM:136550)
ORPHA:75373 — Progressive bifocal chorioretinal atrophy (OMIM: OMIM:600790)
ORPHA:75374 — Bradyopsia (OMIM: OMIM:608415)
ORPHA:75376 — Familial drusen (OMIM: OMIM:126600, OMIM:126700)
ORPHA:75377 — Central areolar choroidal dystrophy (OMIM: OMIM:215500, OMIM:613105, OMIM:613144)
ORPHA:75381 — Cystoid macular dystrophy (OMIM: OMIM:153880)
ORPHA:75382 — Oguchi disease (OMIM: OMIM:258100, OMIM:613411)
ORPHA:75391 — Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (OMIM: OMIM:609981)
ORPHA:75392 — Periodontal Ehlers-Danlos syndrome (OMIM: OMIM:617174, OMIM:130080)
ORPHA:75496 — B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (OMIM: OMIM:130070)
ORPHA:75497 — X-linked Ehlers-Danlos syndrome (OMIM: OMIM:314400)
ORPHA:755 — Leydig cell hypoplasia (OMIM: OMIM:238320)
ORPHA:75563 — X-linked sideroblastic anemia (OMIM: OMIM:300751)
ORPHA:756 — Pseudohypoaldosteronism type 1 (OMIM: OMIM:177735, OMIM:264350)
ORPHA:757 — Pseudohypoaldosteronism type 2 (OMIM: OMIM:145260, OMIM:614491, OMIM:614492, OMIM:614495, OMIM:614496)
ORPHA:758 — Pseudoxanthoma elasticum (OMIM: OMIM:177850, OMIM:264800)
ORPHA:75840 — Ullrich congenital muscular dystrophy (OMIM: OMIM:254090, OMIM:616470)
ORPHA:75858 — MORM syndrome (OMIM: OMIM:610156)
ORPHA:760 — Purine nucleoside phosphorylase deficiency (OMIM: OMIM:613179)
ORPHA:763 — Pycnodysostosis (OMIM: OMIM:265800)
ORPHA:765 — Pyruvate dehydrogenase deficiency (OMIM: OMIM:245348, OMIM:245349, OMIM:246900, OMIM:312170, OMIM:608782, OMIM:614111)
ORPHA:766 — Hemolytic anemia due to red cell pyruvate kinase deficiency (OMIM: OMIM:266200)
ORPHA:768 — Familial long QT syndrome (OMIM: OMIM:618447, OMIM:611820, OMIM:612347, OMIM:612955, OMIM:613485, OMIM:613688, OMIM:613693, OMIM:613695, OMIM:616247, OMIM:616249, OMIM:192500, OMIM:220400, OMIM:600919, OMIM:601005, OMIM:603830, OMIM:611818, OMIM:611819)
ORPHA:769 — Rabson-Mendenhall syndrome (OMIM: OMIM:262190)
ORPHA:772 — Infantile Refsum disease (OMIM: OMIM:202370, OMIM:266510, OMIM:601539, OMIM:614863, OMIM:614867, OMIM:614871, OMIM:614873, OMIM:614877, OMIM:614885, OMIM:614920, OMIM:617370)
ORPHA:77258 — Trichorhinophalangeal syndrome type 1 (OMIM: OMIM:190350, OMIM:190351)
ORPHA:77259 — Gaucher disease type 1 (OMIM: OMIM:230800)
ORPHA:77260 — Gaucher disease type 2 (OMIM: OMIM:230900)
ORPHA:77261 — Gaucher disease type 3 (OMIM: OMIM:231000)
ORPHA:77292 — Infantile neurovisceral acid sphingomyelinase deficiency (OMIM: OMIM:257200)
ORPHA:77293 — Chronic visceral acid sphingomyelinase deficiency (OMIM: OMIM:607616)
ORPHA:77295 — Odontoleukodystrophy (OMIM: OMIM:607694)
ORPHA:77296 — Morgagni-Stewart-Morel syndrome (OMIM: OMIM:144800)
ORPHA:77297 — Majeed syndrome (OMIM: OMIM:609628)
ORPHA:77298 — Anophthalmia/microphthalmia-esophageal atresia syndrome (OMIM: OMIM:206900)
ORPHA:77299 — Microphthalmia-brain atrophy syndrome (OMIM: OMIM:611222)
ORPHA:773 — Refsum disease (OMIM: OMIM:266500, OMIM:614879)
ORPHA:774 — Hereditary hemorrhagic telangiectasia (OMIM: OMIM:600376, OMIM:610655, OMIM:615506, OMIM:187300, OMIM:175050)
ORPHA:776 — Lujan-Fryns syndrome (OMIM: OMIM:309520, OMIM:300799)
ORPHA:777 — X-linked non-syndromic intellectual disability (OMIM: OMIM:300983, OMIM:300850, OMIM:300851, OMIM:300852, OMIM:300919, OMIM:300928, OMIM:309530, OMIM:309549, OMIM:300210, OMIM:300271, OMIM:300324, OMIM:300355, OMIM:300372, OMIM:300387, OMIM:300419, OMIM:300428, OMIM:300433, OMIM:300436, OMIM:300454, OMIM:300498, OMIM:300505, OMIM:300518, OMIM:300558, OMIM:300705, OMIM:300716, OMIM:300802, OMIM:300803, OMIM:300844, OMIM:300848, OMIM:300849, OMIM:300046, OMIM:300047, OMIM:300062, OMIM:300115, OMIM:300143, OMIM:300984, OMIM:301013)
ORPHA:778 — Rett syndrome (OMIM: OMIM:312750)
ORPHA:779 — Reynolds syndrome (OMIM: OMIM:613471)
ORPHA:780 — Rhabdomyosarcoma (OMIM: OMIM:268210, OMIM:268220)
ORPHA:782 — Axenfeld-Rieger syndrome (OMIM: OMIM:180500, OMIM:601499, OMIM:602482)
ORPHA:783 — Rubinstein-Taybi syndrome (OMIM: OMIM:180849, OMIM:610543, OMIM:613684)
ORPHA:785 — Estrogen resistance syndrome (OMIM: OMIM:615363)
ORPHA:786 — Generalized glucocorticoid resistance syndrome (OMIM: OMIM:615962)
ORPHA:79 — Congenital alpha2-antiplasmin deficiency (OMIM: OMIM:262850)
ORPHA:790 — Retinoblastoma (OMIM: OMIM:180200)
ORPHA:79076 — Juvenile polyposis of infancy (OMIM: OMIM:175050, OMIM:612242)
ORPHA:79083 — PPARG-related familial partial lipodystrophy (OMIM: OMIM:604367)
ORPHA:79084 — Familial partial lipodystrophy, Köbberling type (OMIM: OMIM:608600)
ORPHA:79087 — Acquired partial lipodystrophy (OMIM: OMIM:608709)
ORPHA:79091 — Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (OMIM: OMIM:605637)
ORPHA:79094 — Grange syndrome (OMIM: OMIM:602531)
ORPHA:79095 — Congenital bile acid synthesis defect type 4 (OMIM: OMIM:214950, OMIM:614307)
ORPHA:79096 — Pyridoxal phosphate-responsive seizures (OMIM: OMIM:610090)
ORPHA:791 — Retinitis pigmentosa (OMIM: OMIM:619845, OMIM:618826, OMIM:618697, OMIM:617123, OMIM:617023, OMIM:620228, OMIM:618613, OMIM:613809, OMIM:613810, OMIM:613827, OMIM:613861, OMIM:613862, OMIM:613983, OMIM:614180, OMIM:614181, OMIM:614494, OMIM:614500, OMIM:615233, OMIM:615434, OMIM:615565, OMIM:615725, OMIM:615780, OMIM:617433, OMIM:615922, OMIM:616188, OMIM:616394, OMIM:616469, OMIM:616544, OMIM:616562, OMIM:610599, OMIM:611131, OMIM:612095, OMIM:612165, OMIM:612572, OMIM:612712, OMIM:612943, OMIM:613194, OMIM:613341, OMIM:613428, OMIM:613464, OMIM:613575, OMIM:613581, OMIM:613582, OMIM:613617, OMIM:613660, OMIM:613731, OMIM:613750, OMIM:618955, OMIM:619007, OMIM:613756, OMIM:613758, OMIM:613767, OMIM:613769, OMIM:613794, OMIM:613801, OMIM:300424, OMIM:300605, OMIM:312600, OMIM:312612, OMIM:400004, OMIM:600059, OMIM:600105, OMIM:600132, OMIM:600138, OMIM:600852, OMIM:601414, OMIM:601718, OMIM:602594, OMIM:602772, OMIM:604232, OMIM:604393, OMIM:606068, OMIM:607921, OMIM:608133, OMIM:608380, OMIM:609913, OMIM:609923, OMIM:610282, OMIM:610359, OMIM:180100, OMIM:180104, OMIM:180105, OMIM:180210, OMIM:268000, OMIM:268025, OMIM:268060, OMIM:300029, OMIM:300155, OMIM:617304, OMIM:617460, OMIM:618173, OMIM:617781, OMIM:618220, OMIM:618195, OMIM:618345, OMIM:620102)
ORPHA:79100 — Atrophoderma vermiculata (OMIM: OMIM:209700, OMIM:604093)
ORPHA:79101 — Hyperprolinemia type 2 (OMIM: OMIM:239510)
ORPHA:79102 — Thyrotoxic periodic paralysis (OMIM: OMIM:188580, OMIM:613239, OMIM:614834)
ORPHA:79106 — Eiken syndrome (OMIM: OMIM:600002)
ORPHA:79107 — Developmental malformations-deafness-dystonia syndrome (OMIM: OMIM:607371)
ORPHA:79113 — Mandibulofacial dysostosis-microcephaly syndrome (OMIM: OMIM:610536)
ORPHA:79118 — Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome (OMIM: OMIM:610199)
ORPHA:79124 — Hepatic veno-occlusive disease-immunodeficiency syndrome (OMIM: OMIM:235550)
ORPHA:79126 — Acute interstitial pneumonia (OMIM: OMIM:178500)
ORPHA:79128 — Lymphoid interstitial pneumonia (OMIM: OMIM:247610)
ORPHA:79133 — Focal facial dermal dysplasia type I (OMIM: OMIM:136500)
ORPHA:79134 — DEND syndrome (OMIM: OMIM:606176)
ORPHA:79135 — Episodic ataxia type 3 (OMIM: OMIM:606554)
ORPHA:79136 — Episodic ataxia type 4 (OMIM: OMIM:606552)
ORPHA:79137 — Generalized epilepsy-paroxysmal dyskinesia syndrome (OMIM: OMIM:609446)
ORPHA:79141 — Hereditary painful callosities (OMIM: OMIM:114140)
ORPHA:79143 — Isolated congenital anonychia (OMIM: OMIM:107000, OMIM:206800, OMIM:614149)
ORPHA:79144 — Isolated congenital onychodysplasia (OMIM: OMIM:605779)
ORPHA:79145 — Dowling-Degos disease (OMIM: OMIM:179850, OMIM:615327, OMIM:615674, OMIM:615696)
ORPHA:79146 — Familial progressive hyperpigmentation (OMIM: OMIM:145250, OMIM:614233)
ORPHA:79147 — Familial reactive perforating collagenosis (OMIM: OMIM:216700)
ORPHA:79148 — Elastosis perforans serpiginosa (OMIM: OMIM:130100)
ORPHA:79149 — Dermochondrocorneal dystrophy (OMIM: OMIM:221800)
ORPHA:79150 — Linear and whorled nevoid hypermelanosis (OMIM: OMIM:614323)
ORPHA:79151 — Acrokeratosis verruciformis of Hopf (OMIM: OMIM:101900)
ORPHA:79152 — Disseminated superficial actinic porokeratosis (OMIM: OMIM:175900, OMIM:607728, OMIM:612293, OMIM:612353, OMIM:614714, OMIM:616063, OMIM:616631)
ORPHA:79154 — 2-aminoadipic 2-oxoadipic aciduria (OMIM: OMIM:204750)
ORPHA:79155 — Hydroxykynureninuria (OMIM: OMIM:236800)
ORPHA:79156 — Seizures-intellectual disability due to hydroxylysinuria syndrome (OMIM: OMIM:236900)
ORPHA:79157 — 2-methylbutyryl-CoA dehydrogenase deficiency (OMIM: OMIM:610006)
ORPHA:79159 — Isobutyryl-CoA dehydrogenase deficiency (OMIM: OMIM:611283)
ORPHA:79189 — Peroxisome biogenesis disorder (OMIM: OMIM:614872, OMIM:614866, OMIM:614879, OMIM:601539, OMIM:214100, OMIM:614882, OMIM:614870, OMIM:614883, OMIM:614862, OMIM:614886, OMIM:614876, OMIM:214110, OMIM:614859, OMIM:614887, OMIM:614885, OMIM:614867, OMIM:266510, OMIM:614877, OMIM:614920, OMIM:614863, OMIM:614871, OMIM:614873, OMIM:202370)
ORPHA:792 — X-linked retinoschisis (OMIM: OMIM:312700)
ORPHA:79230 — HJV or HAMP-related hemochromatosis (OMIM: OMIM:613313, OMIM:602390)
ORPHA:79233 — Hypoxanthine guanine phosphoribosyltransferase partial deficiency (OMIM: OMIM:300323)
ORPHA:79234 — Crigler-Najjar syndrome type 1 (OMIM: OMIM:218800)
ORPHA:79235 — Crigler-Najjar syndrome type 2 (OMIM: OMIM:606785)
ORPHA:79237 — Galactokinase deficiency (OMIM: OMIM:230200)
ORPHA:79238 — Galactose epimerase deficiency (OMIM: OMIM:230350)
ORPHA:79239 — Classic galactosemia (OMIM: OMIM:230400)
ORPHA:79240 — Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (OMIM: OMIM:261750)
ORPHA:79241 — Biotinidase deficiency (OMIM: OMIM:253260)
ORPHA:79242 — Holocarboxylase synthetase deficiency (OMIM: OMIM:253270)
ORPHA:79243 — Pyruvate dehydrogenase E1-alpha deficiency (OMIM: OMIM:312170)
ORPHA:79244 — Pyruvate dehydrogenase E2 deficiency (OMIM: OMIM:245348)
ORPHA:79246 — Pyruvate dehydrogenase phosphatase deficiency (OMIM: OMIM:608782)
ORPHA:79253 — Mild phenylketonuria (OMIM: OMIM:261600)
ORPHA:79254 — Classic phenylketonuria (OMIM: OMIM:261600)
ORPHA:79255 — GM1 gangliosidosis type 1 (OMIM: OMIM:230500)
ORPHA:79256 — GM1 gangliosidosis type 2 (OMIM: OMIM:230600)
ORPHA:79257 — GM1 gangliosidosis type 3 (OMIM: OMIM:230650)
ORPHA:79258 — Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (OMIM: OMIM:232200)
ORPHA:79259 — Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (OMIM: OMIM:232220, OMIM:232240)
ORPHA:79269 — Sanfilippo syndrome type A (OMIM: OMIM:252900)
ORPHA:79270 — Sanfilippo syndrome type B (OMIM: OMIM:252920)
ORPHA:79271 — Sanfilippo syndrome type C (OMIM: OMIM:252930)
ORPHA:79272 — Sanfilippo syndrome type D (OMIM: OMIM:252940)
ORPHA:79273 — Hereditary coproporphyria (OMIM: OMIM:121300)
ORPHA:79276 — Acute intermittent porphyria (OMIM: OMIM:176000)
ORPHA:79277 — Congenital erythropoietic porphyria (OMIM: OMIM:263700)
ORPHA:79278 — Autosomal erythropoietic protoporphyria (OMIM: OMIM:177000)
ORPHA:79279 — Alpha-N-acetylgalactosaminidase deficiency type 1 (OMIM: OMIM:609241)
ORPHA:79280 — Alpha-N-acetylgalactosaminidase deficiency type 2 (OMIM: OMIM:609242)
ORPHA:79281 — Alpha-N-acetylgalactosaminidase deficiency type 3 (OMIM: OMIM:609241)
ORPHA:79282 — Methylmalonic acidemia with homocystinuria, type cblC (OMIM: OMIM:277400)
ORPHA:79283 — Methylmalonic acidemia with homocystinuria, type cblD (OMIM: OMIM:277410)
ORPHA:79284 — Methylmalonic acidemia with homocystinuria type cblF (OMIM: OMIM:277380)
ORPHA:79292 — Fish-eye disease (OMIM: OMIM:136120)
ORPHA:79293 — Familial LCAT deficiency (OMIM: OMIM:245900)
ORPHA:79299 — Congenital glucokinase-related hyperinsulinism (OMIM: OMIM:602485)
ORPHA:79301 — Congenital bile acid synthesis defect type 1 (OMIM: OMIM:607765)
ORPHA:79302 — Congenital bile acid synthesis defect type 3 (OMIM: OMIM:613812)
ORPHA:79303 — Congenital bile acid synthesis defect type 2 (OMIM: OMIM:235555)
ORPHA:79304 — Progressive familial intrahepatic cholestasis type 2 (OMIM: OMIM:601847)
ORPHA:79305 — Progressive familial intrahepatic cholestasis type 3 (OMIM: OMIM:602347)
ORPHA:79306 — Progressive familial intrahepatic cholestasis type 1 (OMIM: OMIM:211600)
ORPHA:79310 — Vitamin B12-responsive methylmalonic acidemia type cblA (OMIM: OMIM:251100)
ORPHA:79311 — Vitamin B12-responsive methylmalonic acidemia type cblB (OMIM: OMIM:251110)
ORPHA:79312 — Vitamin B12-unresponsive methylmalonic acidemia type mut- (OMIM: OMIM:251000)
ORPHA:79314 — L-2-hydroxyglutaric aciduria (OMIM: OMIM:236792)
ORPHA:79315 — D-2-hydroxyglutaric aciduria (OMIM: OMIM:600721, OMIM:613657)
ORPHA:79318 — PMM2-CDG (OMIM: OMIM:212065)
ORPHA:79319 — MPI-CDG (OMIM: OMIM:602579)
ORPHA:79320 — ALG6-CDG (OMIM: OMIM:603147)
ORPHA:79321 — ALG3-CDG (OMIM: OMIM:601110)
ORPHA:79322 — DPM1-CDG (OMIM: OMIM:608799)
ORPHA:79323 — MPDU1-CDG (OMIM: OMIM:609180)
ORPHA:79324 — ALG12-CDG (OMIM: OMIM:607143)
ORPHA:79325 — ALG8-CDG (OMIM: OMIM:608104)
ORPHA:79326 — ALG2-CDG (OMIM: OMIM:607906)
ORPHA:79327 — ALG1-CDG (OMIM: OMIM:608540)
ORPHA:79328 — ALG9-CDG (OMIM: OMIM:608776, OMIM:263210)
ORPHA:79329 — MGAT2-CDG (OMIM: OMIM:212066)
ORPHA:79330 — MOGS-CDG (OMIM: OMIM:606056)
ORPHA:79332 — B4GALT1-CDG (OMIM: OMIM:607091)
ORPHA:79333 — COG7-CDG (OMIM: OMIM:608779)
ORPHA:79345 — Brachytelephalangic chondrodysplasia punctata (OMIM: OMIM:302950, OMIM:602497)
ORPHA:79346 — Chondrodysplasia punctata, tibial-metacarpal type (OMIM: OMIM:118651)
ORPHA:79347 — Chondrodysplasia punctata, Toriello type (OMIM: OMIM:215105)
ORPHA:79350 — 3-phosphoserine phosphatase deficiency, infantile/juvenile form (OMIM: OMIM:614023)
ORPHA:79351 — 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (OMIM: OMIM:601815)
ORPHA:79394 — Congenital ichthyosiform erythroderma (OMIM: OMIM:242100, OMIM:606545, OMIM:612281, OMIM:615022, OMIM:615023, OMIM:615024)
ORPHA:79395 — Keratoderma hereditarium mutilans with ichthyosis (OMIM: OMIM:604117)
ORPHA:79396 — Autosomal dominant generalized epidermolysis bullosa simplex, severe form (OMIM: OMIM:131760, OMIM:619555)
ORPHA:79397 — Epidermolysis bullosa simplex with mottled pigmentation (OMIM: OMIM:131960)
ORPHA:79399 — Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form (OMIM: OMIM:131900)
ORPHA:794 — Saethre-Chotzen syndrome (OMIM: OMIM:180750, OMIM:101400)
ORPHA:79400 — Localized epidermolysis bullosa simplex (OMIM: OMIM:131800, OMIM:619594)
ORPHA:79401 — PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (OMIM: OMIM:131950)
ORPHA:79402 — Intermediate generalized junctional epidermolysis bullosa (OMIM: OMIM:226650, OMIM:619785, OMIM:619783, OMIM:619787, OMIM:619816)
ORPHA:79403 — Junctional epidermolysis bullosa with pyloric atresia (OMIM: OMIM:619817, OMIM:226730)
ORPHA:79404 — Severe generalized junctional epidermolysis bullosa (OMIM: OMIM:619786, OMIM:226700)
ORPHA:79405 — Junctional epidermolysis bullosa inversa (OMIM: OMIM:226650)
ORPHA:79406 — Late-onset junctional epidermolysis bullosa (OMIM: OMIM:619787)
ORPHA:79408 — Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (OMIM: OMIM:226600)
ORPHA:79409 — Recessive dystrophic epidermolysis bullosa inversa (OMIM: OMIM:226600)
ORPHA:79410 — Localized dystrophic epidermolysis bullosa, pretibial form (OMIM: OMIM:131850)
ORPHA:79411 — Self-improving dystrophic epidermolysis bullosa (OMIM: OMIM:131705)
ORPHA:79414 — Woolly hair nevus (OMIM: OMIM:162900)
ORPHA:79430 — Hermansky-Pudlak syndrome (OMIM: OMIM:617050, OMIM:619172, OMIM:203300, OMIM:608233, OMIM:614072, OMIM:614073, OMIM:614074, OMIM:614075, OMIM:614076, OMIM:614077, OMIM:614171)
ORPHA:79431 — Oculocutaneous albinism type 1A (OMIM: OMIM:203100)
ORPHA:79432 — Oculocutaneous albinism type 2 (OMIM: OMIM:203200)
ORPHA:79433 — Oculocutaneous albinism type 3 (OMIM: OMIM:203290)
ORPHA:79434 — Oculocutaneous albinism type 1B (OMIM: OMIM:606952)
ORPHA:79435 — Oculocutaneous albinism type 4 (OMIM: OMIM:606574)
ORPHA:79443 — Pseudohypoparathyroidism type 1A (OMIM: OMIM:103580)
ORPHA:79444 — Pseudohypoparathyroidism type 1C (OMIM: OMIM:612462)
ORPHA:79445 — Pseudopseudohypoparathyroidism (OMIM: OMIM:612463)
ORPHA:79447 — X-linked lethal multiple pterygium syndrome (OMIM: OMIM:312150)
ORPHA:79452 — Milroy disease (OMIM: OMIM:153100, OMIM:247440, OMIM:611944, OMIM:613480, OMIM:615907)
ORPHA:79457 — Maculopapular cutaneous mastocytosis (OMIM: OMIM:154800)
ORPHA:79473 — Variegate porphyria (OMIM: OMIM:176200)
ORPHA:79476 — Griscelli syndrome type 1 (OMIM: OMIM:214450)
ORPHA:79477 — Griscelli syndrome type 2 (OMIM: OMIM:607624)
ORPHA:79478 — Griscelli syndrome type 3 (OMIM: OMIM:609227)
ORPHA:79493 — Brooke-Spiegler syndrome (OMIM: OMIM:601606, OMIM:605041, OMIM:612099, OMIM:132700)
ORPHA:79495 — X-linked congenital generalized hypertrichosis (OMIM: OMIM:307150)
ORPHA:79499 — Autosomal dominant deafness-onychodystrophy syndrome (OMIM: OMIM:124480)
ORPHA:79500 — DOORS syndrome (OMIM: OMIM:220500)
ORPHA:79501 — Punctate palmoplantar keratoderma type 1 (OMIM: OMIM:148600, OMIM:614936)
ORPHA:79502 — Punctate palmoplantar keratoderma type 2 (OMIM: OMIM:175860)
ORPHA:79503 — Ichthyosis hystrix of Curth-Macklin (OMIM: OMIM:146590)
ORPHA:79507 — Hypotonia-failure to thrive-microcephaly syndrome (OMIM: OMIM:614037)
ORPHA:796 — Sandhoff disease (OMIM: OMIM:268800)
ORPHA:79643 — Autosomal recessive hyperinsulinism due to SUR1 deficiency (OMIM: OMIM:256450)
ORPHA:79644 — Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (OMIM: OMIM:601820)
ORPHA:79651 — Mild hyperphenylalaninemia (OMIM: OMIM:261600)
ORPHA:79665 — Gardner syndrome (OMIM: OMIM:175100)
ORPHA:797 — Sarcoidosis (OMIM: OMIM:181000, OMIM:612387, OMIM:612388)
ORPHA:798 — Schinzel-Giedion syndrome (OMIM: OMIM:269150)
ORPHA:799 — Schizencephaly (OMIM: OMIM:269160)
ORPHA:800 — Schwartz-Jampel syndrome (OMIM: OMIM:255800)
ORPHA:803 — Amyotrophic lateral sclerosis (OMIM: OMIM:617892, OMIM:614808, OMIM:615426, OMIM:615515, OMIM:616208, OMIM:616437, OMIM:617921, OMIM:105400, OMIM:205250, OMIM:300857, OMIM:606070, OMIM:606640, OMIM:619133, OMIM:608030, OMIM:608031, OMIM:608627, OMIM:611895, OMIM:612069, OMIM:612577, OMIM:613435, OMIM:613954, OMIM:600795, OMIM:617839, OMIM:619141)
ORPHA:805 — Tuberous sclerosis complex (OMIM: OMIM:191100, OMIM:613254)
ORPHA:806 — Scott syndrome (OMIM: OMIM:262890)
ORPHA:808 — Seckel syndrome (OMIM: OMIM:210600, OMIM:606744, OMIM:614728, OMIM:613676, OMIM:613823, OMIM:615807, OMIM:616777, OMIM:614851, OMIM:617523)
ORPHA:811 — Shwachman-Diamond syndrome (OMIM: OMIM:260400, OMIM:617941)
ORPHA:812 — Sialidosis type 1 (OMIM: OMIM:256550)
ORPHA:813 — Silver-Russell syndrome (OMIM: OMIM:616489, OMIM:180860, OMIM:312780)
ORPHA:816 — Sjögren-Larsson syndrome (OMIM: OMIM:270200)
ORPHA:818 — Smith-Lemli-Opitz syndrome (OMIM: OMIM:270400)
ORPHA:819 — Smith-Magenis syndrome (OMIM: OMIM:182290)
ORPHA:82 — Hereditary thrombophilia due to congenital antithrombin deficiency (OMIM: OMIM:613118)
ORPHA:820 — Sneddon syndrome (OMIM: OMIM:182410)
ORPHA:821 — Sotos syndrome (OMIM: OMIM:617169, OMIM:117550)
ORPHA:822 — Hereditary spherocytosis (OMIM: OMIM:182900, OMIM:270970, OMIM:612653, OMIM:612690, OMIM:616649)
ORPHA:823 — Spina bifida and other spinal dysraphisms (OMIM: OMIM:182940, OMIM:301410, OMIM:601634)