TaoMedAI/RareMedData huggingface dataset:
ORPHA:2668 — Nephropathy-deafness-hyperparathyroidism syndrome (OMIM: OMIM:256120)
ORPHA:2669 — Nephrosis-deafness-urinary tract-digital malformations syndrome (OMIM: OMIM:256200)
ORPHA:267 — Calpain-3-related limb-girdle muscular dystrophy R1 (OMIM: OMIM:253600)
ORPHA:2670 — Pierson syndrome (OMIM: OMIM:609049)
ORPHA:2671 — Neu-Laxova syndrome (OMIM: OMIM:256520, OMIM:616038)
ORPHA:2672 — Neuhauser-Eichner-Opitz syndrome (OMIM: OMIM:130950)
ORPHA:2673 — Neurofaciodigitorenal syndrome (OMIM: OMIM:256690)
ORPHA:2674 — Cyprus facial-neuromusculoskeletal syndrome (OMIM: OMIM:123853)
ORPHA:2678 — Familial isolated café-au-lait macules (OMIM: OMIM:114030)
ORPHA:26791 — Multiple acyl-CoA dehydrogenase deficiency (OMIM: OMIM:231680)
ORPHA:26792 — Short chain acyl-CoA dehydrogenase deficiency (OMIM: OMIM:201470)
ORPHA:26793 — Very long chain acyl-CoA dehydrogenase deficiency (OMIM: OMIM:201475)
ORPHA:268 — Dysferlin-related limb-girdle muscular dystrophy R2 (OMIM: OMIM:253601)
ORPHA:2680 — Hypomyelination neuropathy-arthrogryposis syndrome (OMIM: OMIM:618186, OMIM:616286, OMIM:616287, OMIM:617468)
ORPHA:268114 — RAS-associated autoimmune leukoproliferative disease (OMIM: OMIM:614470)
ORPHA:268129 — Spheroid body myopathy (OMIM: OMIM:182920)
ORPHA:268145 — Classic maple syrup urine disease (OMIM: OMIM:620698, OMIM:620699, OMIM:248600)
ORPHA:268162 — Intermediate maple syrup urine disease (OMIM: OMIM:620698, OMIM:615135, OMIM:248600, OMIM:620699)
ORPHA:268173 — Intermittent maple syrup urine disease (OMIM: OMIM:620698, OMIM:620699, OMIM:248600)
ORPHA:268184 — Thiamine-responsive maple syrup urine disease (OMIM: OMIM:248600)
ORPHA:268261 — DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (OMIM: OMIM:614104)
ORPHA:268322 — Hereditary thrombocytopenia with normal platelets (OMIM: OMIM:188000, OMIM:273900, OMIM:313900, OMIM:612004)
ORPHA:268357 — Neural tube closure defect (OMIM: OMIM:182940, OMIM:301410, OMIM:601634)
ORPHA:2686 — Cyclic neutropenia (OMIM: OMIM:162800)
ORPHA:2688 — Adult idiopathic neutropenia (OMIM: OMIM:607847)
ORPHA:268882 — Arnold-Chiari malformation type I (OMIM: OMIM:118420)
ORPHA:268940 — Bilateral polymicrogyria (OMIM: OMIM:300388, OMIM:606854, OMIM:612691, OMIM:615752, OMIM:616531)
ORPHA:268994 — Isolated focal cortical dysplasia type II (OMIM: OMIM:607341)
ORPHA:269 — Facioscapulohumeral dystrophy (OMIM: OMIM:619478, OMIM:619477, OMIM:158900, OMIM:158901, OMIM:600416)
ORPHA:269001 — Isolated focal cortical dysplasia type IIa (OMIM: OMIM:607341)
ORPHA:269008 — Isolated focal cortical dysplasia type IIb (OMIM: OMIM:607341)
ORPHA:269229 — Pontine tegmental cap dysplasia (OMIM: OMIM:614688)
ORPHA:2695 — Bifid nose (OMIM: OMIM:109740, OMIM:210400)
ORPHA:269505 — Congenital communicating hydrocephalus (OMIM: OMIM:615219)
ORPHA:269510 — Congenital non-communicating hydrocephalus (OMIM: OMIM:236600)
ORPHA:2697 — Arthrogryposis-renal dysfunction-cholestasis syndrome (OMIM: OMIM:613404, OMIM:208085)
ORPHA:2698 — Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome (OMIM: OMIM:149200)
ORPHA:2699 — Median nodule of the upper lip (OMIM: OMIM:151630)
ORPHA:27 — Vitamin B12-unresponsive methylmalonic acidemia (OMIM: OMIM:251000)
ORPHA:270 — Oculopharyngeal muscular dystrophy (OMIM: OMIM:164300)
ORPHA:2701 — Noonan syndrome-like disorder with loose anagen hair (OMIM: OMIM:607721, OMIM:617506)
ORPHA:2704 — Urofacial syndrome (OMIM: OMIM:236730, OMIM:615112)
ORPHA:2707 — Oculocerebrofacial syndrome, Kaufman type (OMIM: OMIM:244450)
ORPHA:2709 — Oculodental syndrome, Rutherfurd type (OMIM: OMIM:180900)
ORPHA:2710 — Oculodentodigital dysplasia (OMIM: OMIM:164200, OMIM:257850)
ORPHA:2712 — Oculofaciocardiodental syndrome (OMIM: OMIM:300166)
ORPHA:2713 — Oculoosteocutaneous syndrome (OMIM: OMIM:211370)
ORPHA:2714 — Oculo-palato-cerebral syndrome (OMIM: OMIM:257910)
ORPHA:2715 — Severe oculo-renal-cerebellar syndrome (OMIM: OMIM:257970)
ORPHA:2717 — Oculotrichoanal syndrome (OMIM: OMIM:248450)
ORPHA:2718 — Oculotrichodysplasia (OMIM: OMIM:257960)
ORPHA:271861 — Hereditary ATTR amyloidosis (OMIM: OMIM:105210)
ORPHA:2719 — Oculocerebral hypopigmentation syndrome, Cross type (OMIM: OMIM:257800)
ORPHA:272 — Congenital muscular dystrophy, Fukuyama type (OMIM: OMIM:253800)
ORPHA:2720 — Oculocerebral hypopigmentation syndrome, Preus type (OMIM: OMIM:257790)
ORPHA:2721 — Odonto-onycho-dermal dysplasia (OMIM: OMIM:257980)
ORPHA:2723 — Odontotrichomelic syndrome (OMIM: OMIM:273400)
ORPHA:2724 — Odontomatosis-aortae esophagus stenosis syndrome (OMIM: OMIM:164330)
ORPHA:2728 — Blepharophimosis-intellectual disability syndrome, Ohdo type (OMIM: OMIM:249620)
ORPHA:273 — Steinert myotonic dystrophy (OMIM: OMIM:160900)
ORPHA:2730 — Postaxial tetramelic oligodactyly (OMIM: OMIM:176240)
ORPHA:2733 — Omodysplasia (OMIM: OMIM:164745, OMIM:258315)
ORPHA:2736 — Lethal omphalocele-cleft palate syndrome (OMIM: OMIM:258320)
ORPHA:274 — Bernard-Soulier syndrome (OMIM: OMIM:153670, OMIM:231200)
ORPHA:2741 — Ophthalmomandibulomelic dysplasia (OMIM: OMIM:164900)
ORPHA:2743 — Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome (OMIM: OMIM:165150)
ORPHA:2744 — Horizontal gaze palsy with progressive scoliosis (OMIM: OMIM:617542, OMIM:607313)
ORPHA:2745 — Opitz GBBB syndrome (OMIM: OMIM:300000)
ORPHA:2746 — Opsismodysplasia (OMIM: OMIM:258480)
ORPHA:275 — Severe combined immunodeficiency due to DCLRE1C deficiency (OMIM: OMIM:602450)
ORPHA:2750 — Orofaciodigital syndrome type 1 (OMIM: OMIM:311200)
ORPHA:2751 — Orofaciodigital syndrome type 2 (OMIM: OMIM:252100)
ORPHA:2753 — Orofaciodigital syndrome type 4 (OMIM: OMIM:258860)
ORPHA:2754 — Orofaciodigital syndrome type 6 (OMIM: OMIM:618763, OMIM:277170, OMIM:300804, OMIM:614815, OMIM:615665, OMIM:617127)
ORPHA:2755 — Orofaciodigital syndrome type 8 (OMIM: OMIM:300484)
ORPHA:275517 — Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency (OMIM: OMIM:607271)
ORPHA:275523 — Dianzani autoimmune lymphoproliferative disease (OMIM: OMIM:605233)
ORPHA:275543 — L1 syndrome (OMIM: OMIM:303350, OMIM:304100, OMIM:307000)
ORPHA:275555 — Preeclampsia (OMIM: OMIM:189800, OMIM:609402, OMIM:609403, OMIM:609404, OMIM:614595)
ORPHA:275761 — Lysosomal acid lipase deficiency (OMIM: OMIM:278000)
ORPHA:275777 — Heritable pulmonary arterial hypertension (OMIM: OMIM:615342, OMIM:178600)
ORPHA:275864 — Behavioral variant of frontotemporal dementia (OMIM: OMIM:619132, OMIM:172700, OMIM:600795, OMIM:616437, OMIM:600274)
ORPHA:275872 — Frontotemporal dementia with motor neuron disease (OMIM: OMIM:619133, OMIM:619141, OMIM:105550, OMIM:608030, OMIM:612069, OMIM:613954, OMIM:615911, OMIM:616437, OMIM:616439)
ORPHA:276 — T-B+ severe combined immunodeficiency due to gamma chain deficiency (OMIM: OMIM:300400)
ORPHA:2760 — OSLAM syndrome (OMIM: OMIM:165660)
ORPHA:276148 — Benign epithelial tumor of salivary glands (OMIM: OMIM:181030)
ORPHA:276152 — Multiple endocrine neoplasia type 4 (OMIM: OMIM:610755)
ORPHA:276183 — Spinocerebellar ataxia type 32 (OMIM: OMIM:613909)
ORPHA:276193 — Spinocerebellar ataxia type 35 (OMIM: OMIM:613908)
ORPHA:276198 — Spinocerebellar ataxia type 36 (OMIM: OMIM:614153)
ORPHA:2762 — Progressive osseous heteroplasia (OMIM: OMIM:166350)
ORPHA:276212 — Mucopolysaccharidosis type 6, rapidly progressing (OMIM: OMIM:253200)
ORPHA:276223 — Mucopolysaccharidosis type 6, slowly progressing (OMIM: OMIM:253200)
ORPHA:276234 — Non-syndromic male infertility due to sperm motility disorder (OMIM: OMIM:618664, OMIM:618670, OMIM:618745, OMIM:618751, OMIM:618643, OMIM:617959, OMIM:618433, OMIM:618429, OMIM:617965, OMIM:617593, OMIM:617592, OMIM:617576, OMIM:618152, OMIM:606766, OMIM:612997, OMIM:618153, OMIM:614822)
ORPHA:276238 — Machado-Joseph disease type 1 (OMIM: OMIM:109150)
ORPHA:276241 — Machado-Joseph disease type 2 (OMIM: OMIM:109150)
ORPHA:276244 — Machado-Joseph disease type 3 (OMIM: OMIM:109150)
ORPHA:2763 — Osteocraniostenosis (OMIM: OMIM:602361)
ORPHA:276399 — Familial multinodular goiter (OMIM: OMIM:138800)
ORPHA:276405 — Hyperbiliverdinemia (OMIM: OMIM:614156)
ORPHA:276413 — 10q22.3q23.3 microdeletion syndrome (OMIM: OMIM:612242)
ORPHA:276432 — Ogden syndrome (OMIM: OMIM:300855)
ORPHA:276435 — Lower motor neuron syndrome with late-adult onset (OMIM: OMIM:615048)
ORPHA:276575 — Autosomal dominant hyperinsulinism due to SUR1 deficiency (OMIM: OMIM:256450)
ORPHA:276580 — Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (OMIM: OMIM:601820)
ORPHA:276598 — Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency (OMIM: OMIM:256450)
ORPHA:276603 — Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (OMIM: OMIM:601820)
ORPHA:276630 — Symptomatic form of Coffin-Lowry syndrome in female carriers (OMIM: OMIM:300844)
ORPHA:2767 — Carpotarsal osteochondromatosis (OMIM: OMIM:127820)
ORPHA:2768 — Blount disease (OMIM: OMIM:188700, OMIM:259200)
ORPHA:2769 — Familial osteodysplasia, Anderson type (OMIM: OMIM:259250)
ORPHA:277 — Severe combined immunodeficiency due to adenosine deaminase deficiency (OMIM: OMIM:102700)
ORPHA:2770 — Nasu-Hakola disease (OMIM: OMIM:618193, OMIM:221770)
ORPHA:2771 — Bruck syndrome (OMIM: OMIM:259450, OMIM:609220)
ORPHA:2772 — Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome (OMIM: OMIM:259410)
ORPHA:2774 — Multicentric carpo-tarsal osteolysis with or without nephropathy (OMIM: OMIM:166300)
ORPHA:2776 — Autosomal recessive distal osteolysis syndrome (OMIM: OMIM:259610)
ORPHA:2777 — Osteomesopyknosis (OMIM: OMIM:166450)
ORPHA:2780 — Osteopathia striata-cranial sclerosis syndrome (OMIM: OMIM:300373)
ORPHA:2783 — Autosomal dominant osteopetrosis type 1 (OMIM: OMIM:607634)
ORPHA:2785 — Osteopetrosis with renal tubular acidosis (OMIM: OMIM:259730, OMIM:267200)
ORPHA:2786 — Osteoporosis-oculocutaneous hypopigmentation syndrome (OMIM: OMIM:601220)
ORPHA:2788 — Osteoporosis-pseudoglioma syndrome (OMIM: OMIM:259770)
ORPHA:2789 — Lateral meningocele syndrome (OMIM: OMIM:130720)
ORPHA:2790 — Endosteal hyperostosis, Worth type (OMIM: OMIM:144750)
ORPHA:2791 — Otodental syndrome (OMIM: OMIM:166750)
ORPHA:2792 — Otofaciocervical syndrome (OMIM: OMIM:166780, OMIM:615560)
ORPHA:2793 — Otoonychoperoneal syndrome (OMIM: OMIM:259780)
ORPHA:2796 — Pachydermoperiostosis (OMIM: OMIM:167100, OMIM:259100, OMIM:614441)
ORPHA:2798 — Pachygyria-intellectual disability-epilepsy syndrome (OMIM: OMIM:600176)
ORPHA:279934 — Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (OMIM: OMIM:251880)
ORPHA:279943 — Hereditary neutrophilia (OMIM: OMIM:162830)
ORPHA:28 — Vitamin B12-responsive methylmalonic acidemia (OMIM: OMIM:251100, OMIM:251110, OMIM:277410)
ORPHA:280 — Wolf-Hirschhorn syndrome (OMIM: OMIM:194190)
ORPHA:2800 — Extramammary Paget disease (OMIM: OMIM:167300)
ORPHA:280071 — ALG11-CDG (OMIM: OMIM:613661)
ORPHA:2801 — Juvenile Paget disease (OMIM: OMIM:239000)
ORPHA:280133 — Complement component 3 deficiency (OMIM: OMIM:613779)
ORPHA:280142 — Severe combined immunodeficiency due to LCK deficiency (OMIM: OMIM:615758)
ORPHA:280183 — Methylmalonic aciduria due to transcobalamin receptor defect (OMIM: OMIM:613646)
ORPHA:280195 — Septopreoptic holoprosencephaly (OMIM: OMIM:610829, OMIM:157170, OMIM:609637)
ORPHA:2802 — X-linked sideroblastic anemia and spinocerebellar ataxia (OMIM: OMIM:301310)
ORPHA:280200 — Microform holoprosencephaly (OMIM: OMIM:609637, OMIM:147250, OMIM:157170, OMIM:610829)
ORPHA:280210 — Pelizaeus-Merzbacher disease, connatal form (OMIM: OMIM:312080)
ORPHA:280219 — Pelizaeus-Merzbacher disease, classic form (OMIM: OMIM:312080)
ORPHA:280224 — Pelizaeus-Merzbacher disease, transitional form (OMIM: OMIM:312080)
ORPHA:280229 — Pelizaeus-Merzbacher disease in female carriers (OMIM: OMIM:312080)
ORPHA:280234 — Null syndrome (OMIM: OMIM:312080)
ORPHA:280270 — Pelizaeus-Merzbacher-like disease (OMIM: OMIM:260600, OMIM:300523, OMIM:608804, OMIM:612233)
ORPHA:280282 — Pelizaeus-Merzbacher-like disease due to GJC2 mutation (OMIM: OMIM:608804)
ORPHA:280288 — Pelizaeus-Merzbacher-like disease due to HSPD1 mutation (OMIM: OMIM:612233)
ORPHA:280293 — Pelizaeus-Merzbacher-like disease due to AIMP1 mutation (OMIM: OMIM:260600)
ORPHA:280333 — Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 (OMIM: OMIM:613818)
ORPHA:280356 — PLIN1-related familial partial lipodystrophy (OMIM: OMIM:613877)
ORPHA:2804 — W syndrome (OMIM: OMIM:311450)
ORPHA:280406 — Familial steroid-resistant nephrotic syndrome with sensorineural deafness (OMIM: OMIM:614650)
ORPHA:2805 — Partial pancreatic agenesis (OMIM: OMIM:167755, OMIM:260370, OMIM:615935)
ORPHA:280553 — Fatal infantile hypertonic myofibrillar myopathy (OMIM: OMIM:613869)
ORPHA:280558 — Warsaw breakage syndrome (OMIM: OMIM:613398)
ORPHA:280576 — Nestor-Guillermo progeria syndrome (OMIM: OMIM:614008)
ORPHA:280586 — Chondrodysplasia with joint dislocations, gPAPP type (OMIM: OMIM:614078)
ORPHA:280598 — Hereditary sensorimotor neuropathy with hyperelastic skin (OMIM: OMIM:608895)
ORPHA:2806 — Subacute sclerosing leukoencephalitis (OMIM: OMIM:260470)
ORPHA:280615 — Hemoglobinopathy Toms River (OMIM: OMIM:613977)
ORPHA:280620 — Progressive myoclonic epilepsy type 6 (OMIM: OMIM:614018)
ORPHA:280628 — Familial progressive hyper- and hypopigmentation (OMIM: OMIM:145250)
ORPHA:280633 — Multiple congenital anomalies-hypotonia-seizures syndrome (OMIM: OMIM:614080)
ORPHA:280640 — Occipital pachygyria and polymicrogyria (OMIM: OMIM:614115)
ORPHA:280654 — Autosomal recessive nail dysplasia (OMIM: OMIM:161050)
ORPHA:280671 — Megaconial congenital muscular dystrophy (OMIM: OMIM:602541)
ORPHA:280679 — Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (OMIM: OMIM:300845)
ORPHA:2807 — Papilloma of choroid plexus (OMIM: OMIM:260500)
ORPHA:280763 — Severe intellectual disability and progressive spastic paraplegia (OMIM: OMIM:614067, OMIM:612936, OMIM:613744, OMIM:614066)
ORPHA:2808 — Laryngeal abductor paralysis (OMIM: OMIM:150260)
ORPHA:2809 — Familial recurrent peripheral facial palsy (OMIM: OMIM:134200)
ORPHA:281 — Monosomy 5p syndrome (OMIM: OMIM:123450)
ORPHA:281090 — Syndromic recessive X-linked ichthyosis (OMIM: OMIM:308100)
ORPHA:281122 — Self-improving collodion baby (OMIM: OMIM:242100, OMIM:242300, OMIM:606545)
ORPHA:281127 — Acral self-healing collodion baby (OMIM: OMIM:242300)
ORPHA:281139 — Annular epidermolytic ichthyosis (OMIM: OMIM:620148, OMIM:607602)
ORPHA:281190 — Congenital reticular ichthyosiform erythroderma (OMIM: OMIM:609165)
ORPHA:2812 — Parana hard skin syndrome (OMIM: OMIM:260530)
ORPHA:281201 — Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (OMIM: OMIM:601952)
ORPHA:2815 — Spastic paraparesis-deafness syndrome (OMIM: OMIM:312910)
ORPHA:2818 — Spastic paraplegia-glaucoma-intellectual disability syndrome (OMIM: OMIM:270850)
ORPHA:282 — Frontotemporal dementia (OMIM: OMIM:172700, OMIM:600274, OMIM:600795, OMIM:607485)
ORPHA:2820 — Spastic paraplegia-nephritis-deafness syndrome (OMIM: OMIM:182690)
ORPHA:2821 — Spastic paraplegia-neuropathy-poikiloderma syndrome (OMIM: OMIM:182815)
ORPHA:282166 — Inherited Creutzfeldt-Jakob disease (OMIM: OMIM:123400)
ORPHA:2822 — Autosomal recessive spastic paraplegia type 11 (OMIM: OMIM:604360)
ORPHA:2824 — Paraplegia-intellectual disability-hyperkeratosis syndrome (OMIM: OMIM:309560)
ORPHA:2825 — PARC syndrome (OMIM: OMIM:600331)
ORPHA:2826 — Spastic paraplegia-precocious puberty syndrome (OMIM: OMIM:182820)
ORPHA:2828 — Young-onset Parkinson disease (OMIM: OMIM:615528, OMIM:616840, OMIM:300557, OMIM:600116, OMIM:602404, OMIM:605909, OMIM:606324, OMIM:606852, OMIM:610297, OMIM:613643)
ORPHA:2831 — Rhizomelic dysplasia, Patterson-Lowry type (OMIM: OMIM:601438)
ORPHA:2832 — Short tarsus-absence of lower eyelashes syndrome (OMIM: OMIM:600269)
ORPHA:2833 — Stiff skin syndrome (OMIM: OMIM:184900, OMIM:228020)
ORPHA:2834 — Wrinkly skin syndrome (OMIM: OMIM:278250)
ORPHA:2835 — Pectus excavatum-macrocephaly-dysplastic nails syndrome (OMIM: OMIM:600399)
ORPHA:2836 — PEHO syndrome (OMIM: OMIM:260565)
ORPHA:28378 — Tyrosinemia type 2 (OMIM: OMIM:276600)
ORPHA:2839 — Pelvis-shoulder dysplasia (OMIM: OMIM:169550)
ORPHA:2840 — Pelvic dysplasia-arthrogryposis of lower limbs syndrome (OMIM: OMIM:602484)
ORPHA:2841 — Hailey-Hailey disease (OMIM: OMIM:169600)
ORPHA:284139 — Larsen-like syndrome, B3GAT3 type (OMIM: OMIM:245600)
ORPHA:284149 — Craniosynostosis-dental anomalies (OMIM: OMIM:614188)
ORPHA:284160 — 8q21.11 microdeletion syndrome (OMIM: OMIM:614230)
ORPHA:284169 — Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (OMIM: OMIM:616708)
ORPHA:284232 — Autosomal dominant Charcot-Marie-Tooth disease type 2O (OMIM: OMIM:614228)
ORPHA:284247 — Familial retinal arterial macroaneurysm (OMIM: OMIM:614224)
ORPHA:284271 — Autosomal recessive cerebellar ataxia-psychomotor delay syndrome (OMIM: OMIM:614229)
ORPHA:284282 — Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (OMIM: OMIM:614322)
ORPHA:284289 — Adult-onset autosomal recessive cerebellar ataxia (OMIM: OMIM:613728)
ORPHA:2843 — Pentosuria (OMIM: OMIM:260800)
ORPHA:284324 — Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (OMIM: OMIM:609270)
ORPHA:284332 — Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (OMIM: OMIM:608029)
ORPHA:284339 — Pontocerebellar hypoplasia type 7 (OMIM: OMIM:614969)
ORPHA:284343 — DICER1 tumor-predisposition syndrome (OMIM: OMIM:601200)
ORPHA:284411 — Glycerol kinase deficiency, juvenile form (OMIM: OMIM:307030)
ORPHA:284414 — Glycerol kinase deficiency, adult form (OMIM: OMIM:307030)
ORPHA:284417 — Phosphoserine aminotransferase deficiency, infantile/juvenile form (OMIM: OMIM:610992)
ORPHA:284426 — Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (OMIM: OMIM:612933)
ORPHA:284435 — Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency (OMIM: OMIM:614128)
ORPHA:2848 — Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (OMIM: OMIM:208250)
ORPHA:2849 — Perlman syndrome (OMIM: OMIM:267000)
ORPHA:284963 — Marfan syndrome type 1 (OMIM: OMIM:154700)
ORPHA:284973 — Marfan syndrome type 2 (OMIM: OMIM:610168)
ORPHA:284984 — Aneurysm-osteoarthritis syndrome (OMIM: OMIM:613795)
ORPHA:285 — Hypermobile Ehlers-Danlos syndrome (OMIM: OMIM:130020)
ORPHA:2850 — Alopecia-intellectual disability syndrome (OMIM: OMIM:618840, OMIM:203650, OMIM:610422, OMIM:613930)
ORPHA:2854 — Fuhrmann syndrome (OMIM: OMIM:228930)
ORPHA:2855 — Perrault syndrome (OMIM: OMIM:233400, OMIM:614129, OMIM:614926, OMIM:615300, OMIM:616138, OMIM:617565)
ORPHA:2856 — Persistent Müllerian duct syndrome (OMIM: OMIM:261550)
ORPHA:286 — Vascular Ehlers-Danlos syndrome (OMIM: OMIM:130050)
ORPHA:2863 — Short stature-wormian bones-dextrocardia syndrome (OMIM: OMIM:185120)
ORPHA:2867 — Short stature, Brussels type (OMIM: OMIM:601350)
ORPHA:2868 — Short stature-valvular heart disease-characteristic facies syndrome (OMIM: OMIM:126190)
ORPHA:2869 — Peutz-Jeghers syndrome (OMIM: OMIM:175200)
ORPHA:287 — Classical Ehlers-Danlos syndrome (OMIM: OMIM:130010, OMIM:130000)
ORPHA:2871 — Pfeiffer-Palm-Teller syndrome (OMIM: OMIM:261560)
ORPHA:2872 — Cardiocranial syndrome, Pfeiffer type (OMIM: OMIM:218450)
ORPHA:2876 — PHAVER syndrome (OMIM: OMIM:261575)
ORPHA:2879 — Phocomelia, Schinzel type (OMIM: OMIM:276820)
ORPHA:288 — Hereditary elliptocytosis (OMIM: OMIM:617948, OMIM:130600, OMIM:235370, OMIM:611804)
ORPHA:2880 — Phosphoenolpyruvate carboxykinase deficiency (OMIM: OMIM:261650, OMIM:261680)
ORPHA:2881 — Cutaneous photosensitivity-lethal colitis syndrome (OMIM: OMIM:219095)
ORPHA:2882 — Sitosterolemia (OMIM: OMIM:210250, OMIM:618666)
ORPHA:2884 — Piebaldism (OMIM: OMIM:172800)
ORPHA:2885 — Piebald trait-neurologic defects syndrome (OMIM: OMIM:172850)
ORPHA:2886 — TARP syndrome (OMIM: OMIM:311900)
ORPHA:2888 — Pierre Robin syndrome-faciodigital anomaly syndrome (OMIM: OMIM:311895)
ORPHA:2889 — Pili torti (OMIM: OMIM:261900)
ORPHA:289 — Ellis Van Creveld syndrome (OMIM: OMIM:617088, OMIM:618123, OMIM:225500)
ORPHA:2891 — Pili torti-developmental delay-neurological abnormalities syndrome (OMIM: OMIM:261990)
ORPHA:289157 — Hypocalcemic vitamin D-dependent rickets (OMIM: OMIM:264700, OMIM:600081)
ORPHA:289176 — Autosomal recessive hypophosphatemic rickets (OMIM: OMIM:241520, OMIM:613312)
ORPHA:2892 — Pilodental dysplasia-refractive errors syndrome (OMIM: OMIM:262020)
ORPHA:289266 — Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (OMIM: OMIM:245570)
ORPHA:289290 — Hypermethioninemia encephalopathy due to adenosine kinase deficiency (OMIM: OMIM:614300)
ORPHA:289307 — Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (OMIM: OMIM:614105)
ORPHA:289326 — Tropical spastic paraparesis (OMIM: OMIM:159580)
ORPHA:289365 — Familial vesicoureteral reflux (OMIM: OMIM:193000, OMIM:610878, OMIM:613674, OMIM:614317, OMIM:614318, OMIM:614319, OMIM:615390, OMIM:615963)
ORPHA:289377 — Early-onset myopathy with fatal cardiomyopathy (OMIM: OMIM:611705)
ORPHA:289380 — Myosclerosis (OMIM: OMIM:255600)
ORPHA:289390 — Primary Sjögren syndrome (OMIM: OMIM:270150)
ORPHA:289465 — Isolated congenital adermatoglyphia (OMIM: OMIM:136000)
ORPHA:289483 — Intellectual disability-alacrima-achalasia syndrome (OMIM: OMIM:300858)
ORPHA:289499 — Congenital cataract microcornea with corneal opacity (OMIM: OMIM:269400)
ORPHA:289504 — Combined malonic and methylmalonic acidemia (OMIM: OMIM:614265)
ORPHA:289513 — 12q15q21.1 microdeletion syndrome (OMIM: OMIM:618608)
ORPHA:289539 — BAP1-related tumor predisposition syndrome (OMIM: OMIM:614327)
ORPHA:289548 — Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (OMIM: OMIM:613743)
ORPHA:289553 — Dysmorphism-conductive hearing loss-heart defect syndrome (OMIM: OMIM:615102)
ORPHA:289560 — Mitochondrial membrane protein-associated neurodegeneration (OMIM: OMIM:614298)
ORPHA:289586 — Exfoliative ichthyosis (OMIM: OMIM:607936, OMIM:617115)
ORPHA:2896 — Pitt-Hopkins syndrome (OMIM: OMIM:610954)
ORPHA:289601 — Hereditary arterial and articular multiple calcification syndrome (OMIM: OMIM:211800)
ORPHA:2897 — Pityriasis rubra pilaris (OMIM: OMIM:173200)
ORPHA:2898 — X-linked intellectual disability-plagiocephaly syndrome (OMIM: OMIM:300064)
ORPHA:289846 — Glutathione synthetase deficiency with 5-oxoprolinuria (OMIM: OMIM:266130)
ORPHA:289849 — Glutathione synthetase deficiency without 5-oxoprolinuria (OMIM: OMIM:231900)
ORPHA:289857 — Neonatal glycine encephalopathy (OMIM: OMIM:605899)
ORPHA:289860 — Infantile glycine encephalopathy (OMIM: OMIM:605899)
ORPHA:289863 — Atypical glycine encephalopathy (OMIM: OMIM:617301, OMIM:605899)
ORPHA:289891 — Hypermethioninemia due to glycine N-methyltransferase deficiency (OMIM: OMIM:606664)
ORPHA:2899 — Brachyolmia-amelogenesis imperfecta syndrome (OMIM: OMIM:601216)
ORPHA:289916 — Vitamin B12-unresponsive methylmalonic acidemia type mut0 (OMIM: OMIM:251000)
ORPHA:29 — Mevalonic aciduria (OMIM: OMIM:610377)
ORPHA:2900 — Leri pleonosteosis (OMIM: OMIM:151200)
ORPHA:2901 — Neuralgic amyotrophy (OMIM: OMIM:162100)
ORPHA:2903 — Familial spontaneous pneumothorax (OMIM: OMIM:173600)
ORPHA:29072 — Hereditary pheochromocytoma-paraganglioma (OMIM: OMIM:115310, OMIM:168000, OMIM:171300, OMIM:601650, OMIM:618475, OMIM:618464, OMIM:605373, OMIM:614165)
ORPHA:29073 — Multiple myeloma (OMIM: OMIM:254500)
ORPHA:2908 — Kindler epidermolysis bullosa (OMIM: OMIM:173650)
ORPHA:2909 — Rothmund-Thomson syndrome (OMIM: OMIM:268400)
ORPHA:2911 — Poland syndrome (OMIM: OMIM:173800)
ORPHA:2913 — Non-syndromic polydactyly (OMIM: OMIM:603596)
ORPHA:2916 — Postaxial polydactyly-dental and vertebral anomalies syndrome (OMIM: OMIM:263540)
ORPHA:2917 — Polydactyly-myopia syndrome (OMIM: OMIM:174310)
ORPHA:2919 — Orofaciodigital syndrome type 5 (OMIM: OMIM:174300)
ORPHA:2920 — Oliver syndrome (OMIM: OMIM:258200)
ORPHA:2924 — Isolated polycystic liver disease (OMIM: OMIM:617004, OMIM:174050)
ORPHA:2926 — Digital extensor muscle aplasia-polyneuropathy (OMIM: OMIM:207740)
ORPHA:2929 — Juvenile polyposis syndrome (OMIM: OMIM:174900, OMIM:175050, OMIM:612242)
ORPHA:2930 — Cronkhite-Canada syndrome (OMIM: OMIM:175500)