TaoMedAI/RareMedData huggingface dataset:
ORPHA:2394 — Pyruvate dehydrogenase E3 deficiency (OMIM: OMIM:246900)
ORPHA:2396 — Encephalocraniocutaneous lipomatosis (OMIM: OMIM:613001)
ORPHA:2398 — Multiple symmetric lipomatosis (OMIM: OMIM:151800)
ORPHA:2399 — Nasopalpebral lipoma-coloboma syndrome (OMIM: OMIM:167730)
ORPHA:24 — Fumaric aciduria (OMIM: OMIM:606812)
ORPHA:240 — Léri-Weill dyschondrosteosis (OMIM: OMIM:127300)
ORPHA:2400 — Peripheral motor neuropathy-dysautonomia syndrome (OMIM: OMIM:252320)
ORPHA:240071 — Classic progressive supranuclear palsy syndrome (OMIM: OMIM:601104, OMIM:609454, OMIM:610898)
ORPHA:240085 — Progressive supranuclear palsy-predominant parkinsonism syndrome (OMIM: OMIM:260540)
ORPHA:240094 — Progressive supranuclear palsy-pure akinesia with gait freezing syndrome (OMIM: OMIM:260540)
ORPHA:240103 — Progressive supranuclear palsy-corticobasal syndrome (OMIM: OMIM:260540)
ORPHA:240112 — Progressive supranuclear palsy-progressive non-fluent aphasia syndrome (OMIM: OMIM:260540)
ORPHA:2405 — Thickened earlobes-conductive deafness syndrome (OMIM: OMIM:128980)
ORPHA:2407 — Laryngo-onycho-cutaneous syndrome (OMIM: OMIM:245660)
ORPHA:240760 — Nijmegen breakage syndrome-like disorder (OMIM: OMIM:613078)
ORPHA:2409 — Lowry-MacLean syndrome (OMIM: OMIM:600252)
ORPHA:241 — Dyschromatosis universalis hereditaria (OMIM: OMIM:127500, OMIM:612715, OMIM:615402)
ORPHA:2410 — Hypergonadotropic hypogonadism-cataract syndrome (OMIM: OMIM:240950)
ORPHA:2412 — Dislocation of the hip-dysmorphism syndrome (OMIM: OMIM:601450)
ORPHA:2414 — Congenital pulmonary lymphangiectasia (OMIM: OMIM:265300)
ORPHA:242 — 46,XY complete gonadal dysgenesis (OMIM: OMIM:154230, OMIM:233420, OMIM:300018, OMIM:400044, OMIM:612965, OMIM:613080, OMIM:613762, OMIM:616425)
ORPHA:2429 — Macrocephaly-spastic paraplegia-dysmorphism syndrome (OMIM: OMIM:600302)
ORPHA:243 — 46,XX gonadal dysgenesis (OMIM: OMIM:618723, OMIM:618078, OMIM:233300, OMIM:300510, OMIM:614324, OMIM:618117)
ORPHA:2430 — Congenital macroglossia (OMIM: OMIM:153630)
ORPHA:2432 — Macrosomia-microphthalmia-cleft palate syndrome (OMIM: OMIM:248110)
ORPHA:243343 — Dimethylglycine dehydrogenase deficiency (OMIM: OMIM:605850)
ORPHA:2437 — Czeizel-Losonci syndrome (OMIM: OMIM:183802)
ORPHA:2438 — Hand-foot-genital syndrome (OMIM: OMIM:140000)
ORPHA:2439 — Patterson-Stevenson-Fontaine syndrome (OMIM: OMIM:183700)
ORPHA:244 — Primary ciliary dyskinesia (OMIM: OMIM:620032, OMIM:618801, OMIM:618695, OMIM:619436, OMIM:618063, OMIM:618781, OMIM:617092, OMIM:617091, OMIM:613808, OMIM:614017, OMIM:614679, OMIM:614874, OMIM:614935, OMIM:615067, OMIM:620197, OMIM:615294, OMIM:615444, OMIM:615451, OMIM:615481, OMIM:615482, OMIM:615500, OMIM:615504, OMIM:615505, OMIM:615872, OMIM:616037, OMIM:616481, OMIM:616726, OMIM:215518, OMIM:215520, OMIM:242670, OMIM:242680, OMIM:244400, OMIM:606763, OMIM:608644, OMIM:608646, OMIM:608647, OMIM:610852, OMIM:611884, OMIM:612274, OMIM:612444, OMIM:612518, OMIM:612649, OMIM:612650, OMIM:613193, OMIM:613807, OMIM:300991, OMIM:617577, OMIM:618449, OMIM:618254)
ORPHA:2440 — Isolated split hand-split foot malformation (OMIM: OMIM:183600, OMIM:225300, OMIM:246560, OMIM:313350, OMIM:605289, OMIM:606708)
ORPHA:2442 — X-linked lymphoproliferative disease (OMIM: OMIM:300635, OMIM:308240)
ORPHA:244305 — Dominant hypophosphatemia with nephrolithiasis or osteoporosis (OMIM: OMIM:612286, OMIM:612287)
ORPHA:244310 — RFT1-CDG (OMIM: OMIM:612015)
ORPHA:2445 — Conotruncal heart malformations (OMIM: OMIM:217095)
ORPHA:245 — Nager syndrome (OMIM: OMIM:154400)
ORPHA:2451 — Mucocutaneous venous malformations (OMIM: OMIM:600195)
ORPHA:2456 — Familial supernumerary nipples (OMIM: OMIM:163700)
ORPHA:2457 — Mandibuloacral dysplasia (OMIM: OMIM:608612, OMIM:248370)
ORPHA:246 — Postaxial acrofacial dysostosis (OMIM: OMIM:263750)
ORPHA:2460 — Van den Ende-Gupta syndrome (OMIM: OMIM:600920)
ORPHA:2461 — Marden-Walker syndrome (OMIM: OMIM:248700)
ORPHA:2462 — Shprintzen-Goldberg syndrome (OMIM: OMIM:182212)
ORPHA:2463 — Marfanoid habitus-autosomal recessive intellectual disability syndrome (OMIM: OMIM:248770)
ORPHA:2464 — Marfanoid syndrome, De Silva type (OMIM: OMIM:223330)
ORPHA:2466 — MASA syndrome (OMIM: OMIM:303350)
ORPHA:2470 — Matthew-Wood syndrome (OMIM: OMIM:601186, OMIM:615524)
ORPHA:2471 — McDonough syndrome (OMIM: OMIM:248950)
ORPHA:247198 — Progressive cerebello-cerebral atrophy (OMIM: OMIM:615851)
ORPHA:247262 — Hyperphosphatasia-intellectual disability syndrome (OMIM: OMIM:239300, OMIM:614207, OMIM:614749, OMIM:615716, OMIM:616025, OMIM:616809)
ORPHA:2473 — McKusick-Kaufman syndrome (OMIM: OMIM:236700)
ORPHA:247353 — Generalized pustular psoriasis (OMIM: OMIM:614204, OMIM:616106)
ORPHA:2475 — White forelock with malformations (OMIM: OMIM:277740)
ORPHA:247511 — Autosomal dominant secondary polycythemia (OMIM: OMIM:609820, OMIM:611783)
ORPHA:247522 — Primary ciliary dyskinesia-retinitis pigmentosa syndrome (OMIM: OMIM:300455)
ORPHA:247525 — Citrullinemia type I (OMIM: OMIM:215700)
ORPHA:247546 — Acute neonatal citrullinemia type I (OMIM: OMIM:215700)
ORPHA:247573 — Late-onset citrullinemia type I (OMIM: OMIM:215700)
ORPHA:247585 — Citrullinemia type II (OMIM: OMIM:603471)
ORPHA:247598 — Neonatal intrahepatic cholestasis due to citrin deficiency (OMIM: OMIM:605814)
ORPHA:247604 — Juvenile primary lateral sclerosis (OMIM: OMIM:606353)
ORPHA:247623 — Perinatal lethal hypophosphatasia (OMIM: OMIM:241500)
ORPHA:247651 — Infantile hypophosphatasia (OMIM: OMIM:241500)
ORPHA:247667 — Childhood-onset hypophosphatasia (OMIM: OMIM:241510)
ORPHA:247676 — Adult hypophosphatasia (OMIM: OMIM:146300)
ORPHA:247685 — Odontohypophosphatasia (OMIM: OMIM:146300)
ORPHA:247691 — Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (OMIM: OMIM:192315)
ORPHA:247698 — Multiple endocrine neoplasia type 2A (OMIM: OMIM:171400)
ORPHA:2477 — Megalencephaly (OMIM: OMIM:155350, OMIM:248000)
ORPHA:247709 — Multiple endocrine neoplasia type 2B (OMIM: OMIM:162300)
ORPHA:247768 — Müllerian aplasia and hyperandrogenism (OMIM: OMIM:158330)
ORPHA:247775 — Mayer-Rokitansky-Küster-Hauser syndrome type 1 (OMIM: OMIM:277000)
ORPHA:247790 — FTH1-related iron overload (OMIM: OMIM:615517)
ORPHA:247794 — Juvenile cataract-microcornea-renal glucosuria syndrome (OMIM: OMIM:612018)
ORPHA:247798 — MUTYH-related attenuated familial adenomatous polyposis (OMIM: OMIM:608456)
ORPHA:2478 — Megalencephalic leukoencephalopathy with subcortical cysts (OMIM: OMIM:604004, OMIM:613925, OMIM:613926)
ORPHA:247806 — APC-related attenuated familial adenomatous polyposis (OMIM: OMIM:175100)
ORPHA:247820 — Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome (OMIM: OMIM:613573)
ORPHA:247827 — Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome (OMIM: OMIM:613576)
ORPHA:247834 — Occult macular dystrophy (OMIM: OMIM:613587)
ORPHA:247868 — NLRP12-associated hereditary periodic fever syndrome (OMIM: OMIM:611762)
ORPHA:2479 — Megalocornea-intellectual disability syndrome (OMIM: OMIM:249310)
ORPHA:248 — Autosomal recessive hypohidrotic ectodermal dysplasia (OMIM: OMIM:224900, OMIM:614941, OMIM:618535)
ORPHA:2481 — Neurocutaneous melanocytosis (OMIM: OMIM:249400)
ORPHA:248111 — Juvenile Huntington disease (OMIM: OMIM:143100)
ORPHA:2483 — Melkersson-Rosenthal syndrome (OMIM: OMIM:155900)
ORPHA:248340 — Isolated delta-storage pool disease (OMIM: OMIM:617443)
ORPHA:2484 — Melnick-Needles syndrome (OMIM: OMIM:309350)
ORPHA:248408 — Familial hypodysfibrinogenemia (OMIM: OMIM:616004)
ORPHA:2485 — Melorheostosis (OMIM: OMIM:155950)
ORPHA:2489 — Upper limb defect-eye and ear abnormalities syndrome (OMIM: OMIM:274205)
ORPHA:2491 — Müllerian duct anomalies-limb anomalies syndrome (OMIM: OMIM:146160)
ORPHA:2492 — FATCO syndrome (OMIM: OMIM:246570)
ORPHA:2494 — Ménétrier disease (OMIM: OMIM:137280)
ORPHA:2495 — Meningioma (OMIM: OMIM:606190)
ORPHA:2496 — Mesomelia-synostoses syndrome (OMIM: OMIM:600383)
ORPHA:2497 — Upper limb mesomelic dysplasia, type Fryns (OMIM: OMIM:191440)
ORPHA:2498 — Syndactyly type 8 (OMIM: OMIM:309630)
ORPHA:2499 — Metachondromatosis (OMIM: OMIM:156250)
ORPHA:25 — Glutaryl-CoA dehydrogenase deficiency (OMIM: OMIM:231670)
ORPHA:2500 — Acrogeria (OMIM: OMIM:201200)
ORPHA:2501 — Metaphyseal chondrodysplasia, Spahr type (OMIM: OMIM:250400)
ORPHA:2502 — Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome (OMIM: OMIM:250420)
ORPHA:2504 — Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome (OMIM: OMIM:156510)
ORPHA:2505 — Multiple benign circumferential skin creases on limbs (OMIM: OMIM:156610, OMIM:616734)
ORPHA:2508 — Corpus callosum agenesis-abnormal genitalia syndrome (OMIM: OMIM:300004)
ORPHA:250923 — Isolated aniridia (OMIM: OMIM:106210, OMIM:617142, OMIM:617141)
ORPHA:250977 — AICA-ribosiduria (OMIM: OMIM:608688)
ORPHA:250984 — Autosomal recessive Stickler syndrome (OMIM: OMIM:620022, OMIM:614134, OMIM:614284)
ORPHA:250989 — 1q21.1 microdeletion syndrome (OMIM: OMIM:612474)
ORPHA:250994 — 1q21.1 microduplication syndrome (OMIM: OMIM:612475)
ORPHA:250999 — 1q41q42 microdeletion syndrome (OMIM: OMIM:612530)
ORPHA:2510 — Micro syndrome (OMIM: OMIM:600118, OMIM:614222, OMIM:614225, OMIM:615663)
ORPHA:251019 — 2q32q33 microdeletion syndrome (OMIM: OMIM:612313)
ORPHA:251028 — SATB2-associated syndrome due to a chromosomal rearrangement (OMIM: OMIM:612313)
ORPHA:251038 — 3q29 microduplication syndrome (OMIM: OMIM:611936)
ORPHA:251056 — 6q25.2q25.3 microdeletion syndrome (OMIM: OMIM:612863)
ORPHA:2511 — Microbrachycephaly-ptosis-cleft lip syndrome (OMIM: OMIM:268850)
ORPHA:2512 — Autosomal recessive primary microcephaly (OMIM: OMIM:619453, OMIM:617984, OMIM:617983, OMIM:617985, OMIM:618179, OMIM:618351, OMIM:251200, OMIM:604317, OMIM:604321, OMIM:603802, OMIM:604804, OMIM:608393, OMIM:608716, OMIM:617800, OMIM:612703, OMIM:614673, OMIM:614852, OMIM:616051, OMIM:616080, OMIM:616402, OMIM:616486, OMIM:616681, OMIM:620183, OMIM:617914, OMIM:617090)
ORPHA:251274 — Familial hyperaldosteronism type III (OMIM: OMIM:613677)
ORPHA:251279 — Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome (OMIM: OMIM:611040)
ORPHA:251282 — Autosomal dominant spastic ataxia type 1 (OMIM: OMIM:108600)
ORPHA:251287 — Benign concentric annular macular dystrophy (OMIM: OMIM:153870)
ORPHA:251290 — Parietal foramina with clavicular hypoplasia (OMIM: OMIM:168550)
ORPHA:251295 — Pigmented paravenous retinochoroidal atrophy (OMIM: OMIM:172870)
ORPHA:2513 — Microcephaly-albinism-digital anomalies syndrome (OMIM: OMIM:203340)
ORPHA:251347 — Ataxia-telangiectasia-like disorder (OMIM: OMIM:604391)
ORPHA:251380 — Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome (OMIM: OMIM:613566, OMIM:141749, OMIM:142335, OMIM:142470, OMIM:305435)
ORPHA:251383 — CK syndrome (OMIM: OMIM:300831)
ORPHA:251393 — Localized junctional epidermolysis bullosa (OMIM: OMIM:226650)
ORPHA:2514 — Autosomal dominant primary microcephaly (OMIM: OMIM:619179, OMIM:619180, OMIM:617520, OMIM:156580, OMIM:616311)
ORPHA:2515 — Microcephaly-cardiomyopathy syndrome (OMIM: OMIM:251220)
ORPHA:251510 — 46,XY partial gonadal dysgenesis (OMIM: OMIM:616067, OMIM:616425, OMIM:154230, OMIM:300018, OMIM:612965, OMIM:613762, OMIM:615542)
ORPHA:251515 — Distal arthrogryposis type 10 (OMIM: OMIM:187370)
ORPHA:251523 — Hyperzincemia and hypercalprotectinemia (OMIM: OMIM:194470)
ORPHA:2516 — Microcephaly-cardiac defect-lung malsegmentation syndrome (OMIM: OMIM:601355)
ORPHA:251627 — Oligodendroglioma (OMIM: OMIM:137800)
ORPHA:251630 — Anaplastic oligodendroglioma (OMIM: OMIM:137800)
ORPHA:2518 — Autosomal recessive chorioretinopathy-microcephaly syndrome (OMIM: OMIM:251270, OMIM:616335)
ORPHA:251858 — Medulloblastoma with extensive nodularity (OMIM: OMIM:155255)
ORPHA:251863 — Desmoplastic/nodular medulloblastoma (OMIM: OMIM:155255)
ORPHA:251867 — Classic medulloblastoma (OMIM: OMIM:155255)
ORPHA:251899 — Choroid plexus carcinoma (OMIM: OMIM:260500)
ORPHA:2522 — Microcephaly-cervical spine fusion anomalies syndrome (OMIM: OMIM:251250)
ORPHA:252202 — Constitutional mismatch repair deficiency syndrome (OMIM: OMIM:619101, OMIM:276300, OMIM:619096, OMIM:619097)
ORPHA:252206 — Melanoma and neural system tumor syndrome (OMIM: OMIM:155755)
ORPHA:2524 — Pontocerebellar hypoplasia type 2 (OMIM: OMIM:277470, OMIM:612389, OMIM:612390, OMIM:613811, OMIM:617026)
ORPHA:2526 — Microcephaly-lymphedema-chorioretinopathy syndrome (OMIM: OMIM:152950)
ORPHA:2533 — Microcephaly-deafness-intellectual disability syndrome (OMIM: OMIM:156620)
ORPHA:2536 — Microcornea-glaucoma-absent frontal sinuses syndrome (OMIM: OMIM:156700)
ORPHA:2538 — Microgastria-limb reduction defect syndrome (OMIM: OMIM:156810)
ORPHA:2542 — Isolated microphthalmia-anophthalmia-coloboma (OMIM: OMIM:251600, OMIM:610093, OMIM:611038, OMIM:613094, OMIM:613517, OMIM:613704, OMIM:615113, OMIM:156850)
ORPHA:254334 — Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (OMIM: OMIM:613641)
ORPHA:254343 — Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome (OMIM: OMIM:613672)
ORPHA:254351 — Distal 7q11.23 microdeletion syndrome (OMIM: OMIM:613729)
ORPHA:254361 — Plectin-related limb-girdle muscular dystrophy R17 (OMIM: OMIM:613723)
ORPHA:254516 — Temple syndrome (OMIM: OMIM:616222)
ORPHA:254519 — Kagami-Ogata syndrome (OMIM: OMIM:608149)
ORPHA:254525 — Temple syndrome due to paternal 14q32.2 microdeletion (OMIM: OMIM:616222)
ORPHA:254528 — Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (OMIM: OMIM:608149)
ORPHA:254531 — Temple syndrome due to paternal 14q32.2 hypomethylation (OMIM: OMIM:616222)
ORPHA:254534 — Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (OMIM: OMIM:608149)
ORPHA:254688 — Complete hydatidiform mole (OMIM: OMIM:231090, OMIM:614293, OMIM:618431, OMIM:618432)
ORPHA:254803 — Mitochondrial DNA depletion syndrome, encephalomyopathic form (OMIM: OMIM:612073, OMIM:612075)
ORPHA:254857 — Lethal infantile mitochondrial myopathy (OMIM: OMIM:551000)
ORPHA:254864 — Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (OMIM: OMIM:500009)
ORPHA:254875 — Mitochondrial DNA depletion syndrome, myopathic form (OMIM: OMIM:609560)
ORPHA:254881 — Spinocerebellar ataxia with epilepsy (OMIM: OMIM:607459)
ORPHA:254886 — Autosomal recessive progressive external ophthalmoplegia (OMIM: OMIM:258450, OMIM:617069)
ORPHA:254892 — Autosomal dominant progressive external ophthalmoplegia (OMIM: OMIM:609283, OMIM:609286, OMIM:610131, OMIM:613077, OMIM:157640)
ORPHA:254898 — Deafness-encephaloneuropathy-obesity-valvulopathy syndrome (OMIM: OMIM:614651)
ORPHA:2549 — Oculoauriculovertebral spectrum with radial defects (OMIM: OMIM:141400)
ORPHA:254902 — Renal tubulopathy-encephalopathy-liver failure syndrome (OMIM: OMIM:124000)
ORPHA:254905 — Isolated cytochrome C oxidase deficiency (OMIM: OMIM:619058, OMIM:220110, OMIM:619355, OMIM:619054, OMIM:619055, OMIM:619053, OMIM:619059, OMIM:619060, OMIM:619061, OMIM:619062, OMIM:619063, OMIM:619064, OMIM:619046, OMIM:619048, OMIM:619051, OMIM:619052)
ORPHA:254913 — Isolated ATP synthase deficiency (OMIM: OMIM:618683, OMIM:618120, OMIM:615228, OMIM:604273, OMIM:614053)
ORPHA:254920 — Combined oxidative phosphorylation defect type 2 (OMIM: OMIM:610498)
ORPHA:254925 — Combined oxidative phosphorylation defect type 4 (OMIM: OMIM:610678)
ORPHA:254930 — Combined oxidative phosphorylation defect type 7 (OMIM: OMIM:613559)
ORPHA:2551 — Microspherophakia-metaphyseal dysplasia syndrome (OMIM: OMIM:157151)
ORPHA:255132 — Adult-onset autosomal recessive sideroblastic anemia (OMIM: OMIM:616860)
ORPHA:255138 — Pyruvate dehydrogenase E1-beta deficiency (OMIM: OMIM:614111)
ORPHA:255182 — Pyruvate dehydrogenase E3-binding protein deficiency (OMIM: OMIM:245349)
ORPHA:255210 — Mitochondrial DNA-associated Leigh syndrome (OMIM: OMIM:500017)
ORPHA:255229 — Navajo neurohepatopathy (OMIM: OMIM:256810)
ORPHA:255235 — Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (OMIM: OMIM:612075)
ORPHA:2554 — Ear-patella-short stature syndrome (OMIM: OMIM:224690, OMIM:613800, OMIM:613803, OMIM:613804, OMIM:613805, OMIM:616835, OMIM:617063)
ORPHA:2556 — Microphthalmia with linear skin defects syndrome (OMIM: OMIM:300887, OMIM:300952, OMIM:309801)
ORPHA:2557 — Mietens syndrome (OMIM: OMIM:249600)
ORPHA:256 — Early-onset generalized limb-onset dystonia (OMIM: OMIM:128100, OMIM:602554)
ORPHA:2561 — Pyramidal molars-abnormal upper lip syndrome (OMIM: OMIM:200970)
ORPHA:2563 — MOMO syndrome (OMIM: OMIM:157980)
ORPHA:2564 — Tetramelic monodactyly (OMIM: OMIM:187510)
ORPHA:2565 — Mononen-Karnes-Senac syndrome (OMIM: OMIM:301940)
ORPHA:2566 — Chronic Epstein-Barr virus infection syndrome (OMIM: OMIM:226990)
ORPHA:257 — Epidermolysis bullosa simplex with muscular dystrophy (OMIM: OMIM:226670)
ORPHA:2570 — Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (OMIM: OMIM:306990)
ORPHA:2571 — X-linked immunoneurologic disorder (OMIM: OMIM:300076)
ORPHA:2572 — Spastic ataxia-corneal dystrophy syndrome (OMIM: OMIM:271320)
ORPHA:2573 — Moyamoya disease (OMIM: OMIM:252350, OMIM:607151, OMIM:608796, OMIM:614042)
ORPHA:2574 — Moynahan syndrome (OMIM: OMIM:203600)
ORPHA:2575 — Cystic fibrosis-gastritis-megaloblastic anemia syndrome (OMIM: OMIM:219721)
ORPHA:2576 — Mulibrey nanism (OMIM: OMIM:253250)
ORPHA:2578 — Mayer-Rokitansky-Küster-Hauser syndrome type 2 (OMIM: OMIM:601076)
ORPHA:2579 — Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome (OMIM: OMIM:158500)
ORPHA:258 — Laminin subunit alpha 2-related congenital muscular dystrophy (OMIM: OMIM:618138, OMIM:607855)
ORPHA:2584 — Classic mycosis fungoides (OMIM: OMIM:254400)
ORPHA:2585 — Ataxia-pancytopenia syndrome (OMIM: OMIM:159550)
ORPHA:2587 — Myeloperoxidase deficiency (OMIM: OMIM:254600)
ORPHA:2588 — Myhre syndrome (OMIM: OMIM:139210)
ORPHA:2589 — Myoclonus-cerebellar ataxia-deafness syndrome (OMIM: OMIM:159800)
ORPHA:2590 — Spinal muscular atrophy-progressive myoclonic epilepsy syndrome (OMIM: OMIM:159950)
ORPHA:2591 — Infantile myofibromatosis (OMIM: OMIM:228550, OMIM:615293)
ORPHA:2593 — Tubular aggregate myopathy (OMIM: OMIM:160565, OMIM:615883)
ORPHA:2596 — Myopathy and diabetes mellitus (OMIM: OMIM:500002)
ORPHA:25968 — Self-limited childhood occipital epilepsy (OMIM: OMIM:132090)
ORPHA:2597 — Mitochondrial myopathy-lactic acidosis-deafness syndrome (OMIM: OMIM:251950)
ORPHA:2598 — Mitochondrial myopathy and sideroblastic anemia (OMIM: OMIM:500011, OMIM:600462, OMIM:613561)
ORPHA:25980 — X-linked myopathy with excessive autophagy (OMIM: OMIM:310440)
ORPHA:26 — Methylmalonic acidemia with homocystinuria (OMIM: OMIM:277380, OMIM:277400, OMIM:277410, OMIM:614857)
ORPHA:260305 — Autosomal recessive sideroblastic anemia (OMIM: OMIM:205950)
ORPHA:2604 — Familial visceral myopathy (OMIM: OMIM:619350, OMIM:155310)
ORPHA:2608 — N syndrome (OMIM: OMIM:310465)
ORPHA:2609 — Isolated complex I deficiency (OMIM: OMIM:618230, OMIM:618232, OMIM:618241, OMIM:618222, OMIM:618229, OMIM:618236, OMIM:618233, OMIM:618240, OMIM:619003, OMIM:252010, OMIM:301021, OMIM:618237, OMIM:618224, OMIM:618246, OMIM:301020, OMIM:618228, OMIM:619272, OMIM:618225, OMIM:618776, OMIM:618234, OMIM:618250, OMIM:618226, OMIM:618245, OMIM:618251, OMIM:619170, OMIM:620135, OMIM:618253, OMIM:618238, OMIM:618242)
ORPHA:261 — Emery-Dreifuss muscular dystrophy (OMIM: OMIM:614302, OMIM:616516, OMIM:181350, OMIM:300696, OMIM:310300, OMIM:612998, OMIM:612999)
ORPHA:26106 — Hereditary diffuse gastric cancer (OMIM: OMIM:137215)
ORPHA:261112 — Monosomy 9p syndrome (OMIM: OMIM:158170)
ORPHA:261120 — 14q11.2 microdeletion syndrome (OMIM: OMIM:613457)
ORPHA:261183 — 15q11.2 microdeletion syndrome (OMIM: OMIM:615656)
ORPHA:261190 — Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (OMIM: OMIM:616898)
ORPHA:261197 — Proximal 16p11.2 microdeletion syndrome (OMIM: OMIM:611913)
ORPHA:2612 — Linear nevus sebaceus syndrome (OMIM: OMIM:163200)
ORPHA:261211 — 16p11.2p12.2 microdeletion syndrome (OMIM: OMIM:613604)
ORPHA:261222 — Distal 16p11.2 microdeletion syndrome (OMIM: OMIM:613444)
ORPHA:261265 — 17q12 microdeletion syndrome (OMIM: OMIM:614527)
ORPHA:261272 — 17q12 microduplication syndrome (OMIM: OMIM:614526)
ORPHA:261279 — 17q23.1q23.2 microdeletion syndrome (OMIM: OMIM:613355)
ORPHA:2613 — Nail-patella-like renal disease (OMIM: OMIM:256020)
ORPHA:261330 — Distal 22q11.2 microdeletion syndrome (OMIM: OMIM:611867)
ORPHA:261349 — 2p15p16.1 microdeletion syndrome (OMIM: OMIM:612513)
ORPHA:2614 — Nail-patella syndrome (OMIM: OMIM:161200)
ORPHA:261476 — Xp21 deletion syndrome (OMIM: OMIM:300679)
ORPHA:261483 — Xq27.3q28 duplication syndrome (OMIM: OMIM:300869)
ORPHA:261494 — Kleefstra syndrome (OMIM: OMIM:610253)
ORPHA:261537 — Mowat-Wilson syndrome due to monosomy 2q22 (OMIM: OMIM:235730)
ORPHA:261552 — Mowat-Wilson syndrome due to a ZEB2 point mutation (OMIM: OMIM:235730)
ORPHA:2616 — 3M syndrome (OMIM: OMIM:273750, OMIM:612921, OMIM:614205)
ORPHA:261600 — Alagille syndrome due to 20p12 microdeletion (OMIM: OMIM:118450)
ORPHA:261619 — Alagille syndrome due to a JAG1 point mutation (OMIM: OMIM:118450)
ORPHA:261629 — Alagille syndrome due to a NOTCH2 point mutation (OMIM: OMIM:610205)
ORPHA:261638 — Okihiro syndrome due to 20q13 microdeletion (OMIM: OMIM:607323)
ORPHA:261647 — Okihiro syndrome due to a point mutation (OMIM: OMIM:607323)
ORPHA:261652 — Kleefstra syndrome due to a point mutation (OMIM: OMIM:617768, OMIM:610253)
ORPHA:2617 — Microcephalic primordial dwarfism, Montreal type (OMIM: OMIM:210700)
ORPHA:2619 — Brachydactylous dwarfism, Mseleni type (OMIM: OMIM:613342)
ORPHA:2623 — Geleophysic dysplasia (OMIM: OMIM:231050, OMIM:614185, OMIM:617809)
ORPHA:2631 — Mesomelic dwarfism-cleft palate-camptodactyly syndrome (OMIM: OMIM:249710)
ORPHA:2632 — Langer mesomelic dysplasia (OMIM: OMIM:249700)
ORPHA:263297 — Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (OMIM: OMIM:613507)
ORPHA:2633 — Mesomelic dysplasia, Nievergelt type (OMIM: OMIM:163400)
ORPHA:263347 — MRCS syndrome (OMIM: OMIM:193220, OMIM:619082)
ORPHA:2634 — Mesomelic dwarfism, Reinhardt-Pfeiffer type (OMIM: OMIM:191400)
ORPHA:263410 — Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (OMIM: OMIM:607483)
ORPHA:263458 — Hyperinsulinism due to INSR deficiency (OMIM: OMIM:609968)
ORPHA:263463 — CHST3-related skeletal dysplasia (OMIM: OMIM:143095)
ORPHA:263482 — Spondyloepimetaphyseal dysplasia, Maroteaux type (OMIM: OMIM:184095)
ORPHA:263487 — COG5-CDG (OMIM: OMIM:613612)
ORPHA:263494 — DPM3-CDG (OMIM: OMIM:612937)
ORPHA:2635 — Metatropic dysplasia (OMIM: OMIM:156530)
ORPHA:263501 — COG4-CDG (OMIM: OMIM:613489)
ORPHA:263508 — COG1-CDG (OMIM: OMIM:611209)
ORPHA:263516 — Progressive myoclonic epilepsy type 3 (OMIM: OMIM:611726)
ORPHA:263524 — Acute necrotizing encephalopathy of childhood (OMIM: OMIM:614212)
ORPHA:263534 — Acral peeling skin syndrome (OMIM: OMIM:609796)
ORPHA:263543 — Generalized peeling skin syndrome (OMIM: OMIM:616265, OMIM:270300)
ORPHA:263548 — Peeling skin syndrome type A (OMIM: OMIM:618084, OMIM:617115, OMIM:616265)
ORPHA:263553 — Peeling skin syndrome type B (OMIM: OMIM:270300)
ORPHA:2636 — Microcephalic osteodysplastic primordial dwarfism types I and III (OMIM: OMIM:210710)
ORPHA:263662 — Familial multiple meningioma (OMIM: OMIM:607174)
ORPHA:2637 — Microcephalic osteodysplastic primordial dwarfism type II (OMIM: OMIM:210720)
ORPHA:2639 — Fibular aplasia-complex brachydactyly syndrome (OMIM: OMIM:228900)
ORPHA:264200 — 14q22q23 microdeletion syndrome (OMIM: OMIM:609640)
ORPHA:2643 — Microcephalic primordial dwarfism, Toriello type (OMIM: OMIM:251190)
ORPHA:2645 — Osteoglosphonic dysplasia (OMIM: OMIM:166250)
ORPHA:264580 — Glycogen storage disease due to liver phosphorylase kinase deficiency (OMIM: OMIM:306000, OMIM:613027)
ORPHA:264675 — Hereditary pulmonary alveolar proteinosis (OMIM: OMIM:614370, OMIM:300770)
ORPHA:264688 — Congenital chylothorax (OMIM: OMIM:603523)
ORPHA:2655 — Thanatophoric dysplasia (OMIM: OMIM:156830, OMIM:187600, OMIM:187601)
ORPHA:2658 — Lenz-Majewski hyperostotic dwarfism (OMIM: OMIM:151050)
ORPHA:266 — Autosomal dominant limb-girdle muscular dystrophy type 1A (OMIM: OMIM:609200)
ORPHA:2662 — Keipert syndrome (OMIM: OMIM:301026)
ORPHA:2663 — Nathalie syndrome (OMIM: OMIM:255990)