TaoMedAI/RareMedData huggingface dataset:
ORPHA:620220 — Bartter syndrome type 2 (OMIM: OMIM:241200)
ORPHA:620363 — Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome (OMIM: OMIM:616418)
ORPHA:621 — Hereditary methemoglobinemia (OMIM: OMIM:250700, OMIM:250790, OMIM:250800)
ORPHA:621758 — Fibrosis-neurodegeneration-cerebral angiomatosis syndrome (OMIM: OMIM:618278)
ORPHA:622 — Homocystinuria without methylmalonic aciduria (OMIM: OMIM:250940, OMIM:277410, OMIM:236270)
ORPHA:622925 — X-linked severe syndromic thoracic aortic aneurysm and dissection (OMIM: OMIM:300989)
ORPHA:623695 — MIR140-related spondyloepiphyseal dysplasia (OMIM: OMIM:618618)
ORPHA:624 — Familial multiple nevi flammei (OMIM: OMIM:163000)
ORPHA:626 — Large/giant congenital melanocytic nevus (OMIM: OMIM:137550)
ORPHA:627 — Nance-Horan syndrome (OMIM: OMIM:302350)
ORPHA:628 — Diastrophic dysplasia (OMIM: OMIM:222600)
ORPHA:629 — Short stature due to growth hormone qualitative anomaly (OMIM: OMIM:262650)
ORPHA:63 — Alport syndrome (OMIM: OMIM:104200, OMIM:203780, OMIM:301050)
ORPHA:631 — Non-acquired isolated growth hormone deficiency (OMIM: OMIM:173100, OMIM:262400, OMIM:262650, OMIM:300123, OMIM:307200, OMIM:612781)
ORPHA:631068 — Autosomal dominant spastic paraplegia type 80 (OMIM: OMIM:618418)
ORPHA:631073 — Autosomal recessive spastic paraplegia type 82 (OMIM: OMIM:618770)
ORPHA:631076 — Autosomal recessive spastic paraplegia type 83 (OMIM: OMIM:619027)
ORPHA:631079 — Autosomal recessive spastic paraplegia type 84 (OMIM: OMIM:619621)
ORPHA:631082 — Autosomal recessive spastic paraplegia type 85 (OMIM: OMIM:619686)
ORPHA:631085 — Autosomal recessive spastic paraplegia type 86 (OMIM: OMIM:619735)
ORPHA:631095 — Spinocerebellar ataxia type 44 (OMIM: OMIM:617691)
ORPHA:631103 — Spinocerebellar ataxia type 48 (OMIM: OMIM:618093)
ORPHA:631106 — Spinocerebellar ataxia type 49 (OMIM: OMIM:619806)
ORPHA:631248 — Mitchell Syndrome (OMIM: OMIM:618960)
ORPHA:632 — Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (OMIM: OMIM:307200)
ORPHA:632603 — Mesomelic dysplasia-digital anomalies-intellectual disability syndrome (OMIM: OMIM:619297)
ORPHA:63269 — Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis (OMIM: OMIM:201750)
ORPHA:63273 — Distal myopathy with posterior leg and anterior hand involvement (OMIM: OMIM:614065)
ORPHA:633 — Laron syndrome (OMIM: OMIM:262500)
ORPHA:633004 — KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome (OMIM: OMIM:618846)
ORPHA:633014 — SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome (OMIM: OMIM:619080, OMIM:619083)
ORPHA:633021 — SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome (OMIM: OMIM:619080)
ORPHA:633024 — SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome (OMIM: OMIM:619083)
ORPHA:633035 — Intellectual disability-early-onset cataract-microcephaly syndrome (OMIM: OMIM:619255)
ORPHA:633099 — PAICS deficiency (OMIM: OMIM:619859)
ORPHA:634 — Netherton syndrome (OMIM: OMIM:256500)
ORPHA:63442 — Angel-shaped phalango-epiphyseal dysplasia (OMIM: OMIM:105835)
ORPHA:63446 — Acrocapitofemoral dysplasia (OMIM: OMIM:607778)
ORPHA:635 — Neuroblastoma (OMIM: OMIM:613016, OMIM:613017, OMIM:616792, OMIM:256700, OMIM:613013, OMIM:613014, OMIM:613015)
ORPHA:636 — Neurofibromatosis type 1 (OMIM: OMIM:162200, OMIM:162210, OMIM:613675)
ORPHA:636941 — Vascular Ehlers-Danlos-polymicrogyria syndrome (OMIM: OMIM:618343)
ORPHA:636965 — Autosomal dominant myosin storage myopathy (OMIM: OMIM:608358)
ORPHA:636970 — Autosomal recessive myosin storage myopathy (OMIM: OMIM:255160)
ORPHA:637 — Full NF2-related schwannomatosis (OMIM: OMIM:101000)
ORPHA:637013 — SMARCA2-related blepharophimosis-intellectual disability syndrome (OMIM: OMIM:619293)
ORPHA:638 — Neurofibromatosis-Noonan syndrome (OMIM: OMIM:601321)
ORPHA:64 — Alström syndrome (OMIM: OMIM:203800)
ORPHA:640 — Hereditary neuropathy with liability to pressure palsies (OMIM: OMIM:162500)
ORPHA:641353 — Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome (OMIM: OMIM:619026)
ORPHA:641361 — Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome (OMIM: OMIM:619576)
ORPHA:641368 — Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency (OMIM: OMIM:618282)
ORPHA:642 — Hereditary sensory and autonomic neuropathy type 4 (OMIM: OMIM:256800)
ORPHA:642085 — EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (OMIM: OMIM:618395)
ORPHA:642099 — Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type (OMIM: OMIM:271640)
ORPHA:642671 — Familial hyperaldosteronism type IV (OMIM: OMIM:617027)
ORPHA:642675 — CHD8 overgrowth syndrome (OMIM: OMIM:615032)
ORPHA:642691 — Fragile X-associated primary ovarian insufficiency (OMIM: OMIM:311360)
ORPHA:642747 — PUM1-related cerebellar ataxia (OMIM: OMIM:617931)
ORPHA:642763 — Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation (OMIM: OMIM:617537)
ORPHA:64280 — Childhood absence epilepsy (OMIM: OMIM:600131, OMIM:607681, OMIM:611136, OMIM:611942, OMIM:612269)
ORPHA:643 — Giant axonal neuropathy (OMIM: OMIM:256850)
ORPHA:643503 — Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome (OMIM: OMIM:617602)
ORPHA:643538 — Hao-Fountain syndrome due to USP7 mutation (OMIM: OMIM:616863)
ORPHA:643549 — Hao-Fountain syndrome (OMIM: OMIM:616863)
ORPHA:644 — NARP syndrome (OMIM: OMIM:551500)
ORPHA:646 — Niemann-Pick disease type C (OMIM: OMIM:257220, OMIM:607625)
ORPHA:646098 — Collagen VI-related congenital muscular dystrophy (OMIM: OMIM:158810, OMIM:254090)
ORPHA:646113 — Intermediate collagen VI-related muscular dystrophy (OMIM: OMIM:254090, OMIM:158810)
ORPHA:646136 — Dysplastic cortical hyperostosis, Al-Gazali type (OMIM: OMIM:601356)
ORPHA:646278 — CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome (OMIM: OMIM:617360)
ORPHA:647 — Nijmegen breakage syndrome (OMIM: OMIM:251260)
ORPHA:64739 — Ovarian hyperstimulation syndrome (OMIM: OMIM:608115)
ORPHA:64742 — Pleuropulmonary blastoma (OMIM: OMIM:601200)
ORPHA:64745 — Pruritic urticarial papules and plaques of pregnancy (OMIM: OMIM:178995)
ORPHA:64748 — Dejerine-Sottas syndrome (OMIM: OMIM:618184, OMIM:145900)
ORPHA:64751 — Hereditary motor and sensory neuropathy type 5 (OMIM: OMIM:600361)
ORPHA:64752 — Hereditary sensory and autonomic neuropathy type 5 (OMIM: OMIM:608654)
ORPHA:64753 — Spinocerebellar ataxia with axonal neuropathy type 2 (OMIM: OMIM:606002, OMIM:615217)
ORPHA:64754 — Nevus comedonicus syndrome (OMIM: OMIM:617025)
ORPHA:64755 — Becker nevus syndrome (OMIM: OMIM:604919)
ORPHA:647667 — Mandibuloacral dysplasia associated to MTX2 (OMIM: OMIM:619127)
ORPHA:647676 — Multiple epiphyseal dysplasia type 7 (OMIM: OMIM:617719)
ORPHA:647681 — Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome (OMIM: OMIM:600775)
ORPHA:647788 — Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome (OMIM: OMIM:617804)
ORPHA:647799 — MYT1L-related developmental delay-intellectual disability-obesity syndrome (OMIM: OMIM:616521)
ORPHA:647804 — Combined immunodeficiency due to FCHO1 deficiency (OMIM: OMIM:619164)
ORPHA:647811 — Cardiac-urogenital syndrome (OMIM: OMIM:618280)
ORPHA:647815 — Keratitis fugax hereditaria (OMIM: OMIM:148200)
ORPHA:647834 — SLC40A1-related hemochromatosis (OMIM: OMIM:606069)
ORPHA:648 — Noonan syndrome (OMIM: OMIM:618624, OMIM:619745, OMIM:618499, OMIM:619087, OMIM:163950, OMIM:605275, OMIM:609942, OMIM:610733, OMIM:611553, OMIM:613224, OMIM:613706, OMIM:615355, OMIM:616559, OMIM:616564)
ORPHA:648562 — Ferroportin disease (OMIM: OMIM:606069)
ORPHA:649 — Norrie disease (OMIM: OMIM:310600)
ORPHA:65 — Leber congenital amaurosis (OMIM: OMIM:179900, OMIM:204000, OMIM:204100, OMIM:604232, OMIM:604393, OMIM:604537, OMIM:608553, OMIM:610612, OMIM:611755, OMIM:612712, OMIM:613341, OMIM:613826, OMIM:613829, OMIM:613835, OMIM:613837, OMIM:613843, OMIM:614186, OMIM:615360, OMIM:618513)
ORPHA:650 — LCAT deficiency (OMIM: OMIM:136120, OMIM:245900)
ORPHA:650097 — Genetic central precocious puberty in male (OMIM: OMIM:176400)
ORPHA:652 — Multiple endocrine neoplasia type 1 (OMIM: OMIM:131100)
ORPHA:652487 — Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome (OMIM: OMIM:620439)
ORPHA:652514 — Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation (OMIM: OMIM:600987)
ORPHA:652522 — Periodic fever-immunodeficiency-thrombocytopenia syndrome (OMIM: OMIM:150550)
ORPHA:65282 — Carvajal syndrome (OMIM: OMIM:605676, OMIM:615821)
ORPHA:65283 — Timothy syndrome (OMIM: OMIM:618447, OMIM:601005)
ORPHA:65284 — Biotin-thiamine-responsive basal ganglia disease (OMIM: OMIM:607483)
ORPHA:65285 — Lhermitte-Duclos disease (OMIM: OMIM:158350)
ORPHA:65286 — 3q29 microdeletion syndrome (OMIM: OMIM:609425)
ORPHA:65287 — Beta-ureidopropionase deficiency (OMIM: OMIM:613161)
ORPHA:65288 — Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (OMIM: OMIM:609069)
ORPHA:653 — Multiple endocrine neoplasia type 2 (OMIM: OMIM:162300, OMIM:171400, OMIM:155240)
ORPHA:653709 — Cone rod dystrophy-short stature syndrome (OMIM: OMIM:617547)
ORPHA:653712 — CHD4-related neurodevelopmental disorder (OMIM: OMIM:617159)
ORPHA:653725 — Autosomal recessive limb-girdle muscular dystrophy, type 28 (OMIM: OMIM:620375)
ORPHA:653728 — Congenital insensitivity to pain syndrome, Marsili type (OMIM: OMIM:147430)
ORPHA:653751 — X-linked combined immunodeficiency due to SASH3 deficiency (OMIM: OMIM:301082)
ORPHA:653767 — Jansen-de Vries syndrome (OMIM: OMIM:617450)
ORPHA:653880 — Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (OMIM: OMIM:616277)
ORPHA:654 — Nephroblastoma (OMIM: OMIM:194070, OMIM:194071, OMIM:194090, OMIM:601363, OMIM:601583, OMIM:616806)
ORPHA:655 — Nephronophthisis (OMIM: OMIM:617271, OMIM:256100, OMIM:602088, OMIM:604387, OMIM:606966, OMIM:611498, OMIM:613159, OMIM:613820, OMIM:613824, OMIM:614377, OMIM:615382, OMIM:615862)
ORPHA:656 — Hereditary steroid-resistant nephrotic syndrome (OMIM: OMIM:619201, OMIM:619155, OMIM:610725, OMIM:613237, OMIM:614131, OMIM:614196, OMIM:615244, OMIM:615573, OMIM:615861, OMIM:616002, OMIM:616032, OMIM:616220, OMIM:616730, OMIM:612551, OMIM:301028, OMIM:618176, OMIM:618177, OMIM:618178, OMIM:616892, OMIM:616893, OMIM:256370, OMIM:600995, OMIM:603278, OMIM:603965, OMIM:607832)
ORPHA:656130 — PBX1-related congenital anomalies of kidney and urinary tract syndrome (OMIM: OMIM:617641)
ORPHA:656135 — Intellectual disability-cupped ears syndrome (OMIM: OMIM:618604)
ORPHA:656279 — 1p36.33 duplication syndrome (OMIM: OMIM:618815)
ORPHA:656283 — Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency (OMIM: OMIM:619751)
ORPHA:656300 — Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency (OMIM: OMIM:618523)
ORPHA:656313 — Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency (OMIM: OMIM:619752)
ORPHA:656326 — Autosomal recessive combined immunodeficiency due to IL6R deficiency (OMIM: OMIM:618944)
ORPHA:65682 — Benign recurrent intrahepatic cholestasis (OMIM: OMIM:243300, OMIM:605479)
ORPHA:65683 — Isolated focal cortical dysplasia (OMIM: OMIM:607341)
ORPHA:65684 — Monomelic amyotrophy (OMIM: OMIM:602440)
ORPHA:65720 — Arthrogryposis-severe scoliosis syndrome (OMIM: OMIM:609128)
ORPHA:65743 — Autosomal dominant multiple pterygium syndrome (OMIM: OMIM:178110)
ORPHA:65748 — Multiple self-healing squamous epithelioma (OMIM: OMIM:132800)
ORPHA:65759 — Carpenter syndrome (OMIM: OMIM:614976, OMIM:201000)
ORPHA:658540 — 16q22 deletion syndrome (OMIM: OMIM:614541)
ORPHA:658595 — DNMT3A-related microcephalic dwarfism (OMIM: OMIM:618724)
ORPHA:658778 — COQ7-related distal hereditary motor neuropathy (OMIM: OMIM:620402)
ORPHA:658805 — Greig cephalopolysyndactyly-contiguous gene syndrome (OMIM: OMIM:175700)
ORPHA:658813 — Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency (OMIM: OMIM:617780)
ORPHA:658843 — Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome (OMIM: OMIM:617330)
ORPHA:658946 — Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency (OMIM: OMIM:301109)
ORPHA:658951 — Early-onset immune dysregulation due to DOCK11 complete deficiency (OMIM: OMIM:301109)
ORPHA:659 — Mutilating palmoplantar keratoderma with periorificial keratotic plaques (OMIM: OMIM:300918, OMIM:614594, OMIM:619208)
ORPHA:659396 — Cohen-Gibson syndrome (OMIM: OMIM:617561)
ORPHA:659463 — Imagawa-Matsumoto syndrome (OMIM: OMIM:618786)
ORPHA:659609 — Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome (OMIM: OMIM:618577)
ORPHA:659642 — Rauch-Steindl syndrome (OMIM: OMIM:619695)
ORPHA:659672 — Harderoporphyria (OMIM: OMIM:618892)
ORPHA:659702 — Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome (OMIM: OMIM:617164)
ORPHA:659873 — Wormian bones-micrognathia-abnormal dentition-progeroid syndrome (OMIM: OMIM:619322)
ORPHA:659904 — Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome (OMIM: OMIM:619539)
ORPHA:659975 — Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome (OMIM: OMIM:619616)
ORPHA:660 — Omphalocele (OMIM: OMIM:164750, OMIM:310980)
ORPHA:660012 — Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation (OMIM: OMIM:619911)
ORPHA:660017 — Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome (OMIM: OMIM:619911)
ORPHA:661 — Congenital central hypoventilation syndrome (OMIM: OMIM:619482, OMIM:209880, OMIM:619483)
ORPHA:661412 — Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency (OMIM: OMIM:601775, OMIM:620603)
ORPHA:661526 — MBD4-related tumor predisposition syndrome (OMIM: OMIM:619975)
ORPHA:662 — Lymphedema with yellow nails (OMIM: OMIM:153300)
ORPHA:662169 — Phelan-McDermid syndrome due to 22q13.3 deletion (OMIM: OMIM:606232)
ORPHA:662172 — Phelan-McDermid syndrome due to SHANK3 mutation (OMIM: OMIM:606232)
ORPHA:662175 — Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome (OMIM: OMIM:618829)
ORPHA:662179 — Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome (OMIM: OMIM:618828)
ORPHA:662184 — Congenital muscular dystrophy-cataract-intellectual disability syndrome (OMIM: OMIM:617404)
ORPHA:662189 — Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome (OMIM: OMIM:620073)
ORPHA:662198 — Neurodevelopmental delay-intellectual disability-skeletal defects syndrome (OMIM: OMIM:300986)
ORPHA:662207 — Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome (OMIM: OMIM:620083)
ORPHA:662216 — Mucopolysaccharidosis type 10 (OMIM: OMIM:619698)
ORPHA:662234 — Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome (OMIM: OMIM:619312)
ORPHA:662367 — NESCAV syndrome (OMIM: OMIM:614255)
ORPHA:662762 — Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome (OMIM: OMIM:620141)
ORPHA:662829 — Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome (OMIM: OMIM:618092)
ORPHA:664 — Ornithine transcarbamylase deficiency (OMIM: OMIM:311250)
ORPHA:664401 — Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation (OMIM: OMIM:614980)
ORPHA:664404 — 6q25.1 microdeletion syndrome (OMIM: OMIM:614980)
ORPHA:664410 — Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome (OMIM: OMIM:613443)
ORPHA:664416 — Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation (OMIM: OMIM:613443)
ORPHA:664430 — Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome (OMIM: OMIM:620746)
ORPHA:664438 — Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome (OMIM: OMIM:618729)
ORPHA:664711 — EBV-induced lymphoproliferative disease due to PRKCD deficiency (OMIM: OMIM:615559)
ORPHA:664726 — EBV-induced lymphoproliferative disease due to CD137 deficiency (OMIM: OMIM:620282)
ORPHA:664729 — EBV-induced lymphoproliferative disease due to TET2 deficiency (OMIM: OMIM:619126)
ORPHA:664923 — Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome (OMIM: OMIM:618622)
ORPHA:666 — Osteogenesis imperfecta (OMIM: OMIM:619795, OMIM:610682, OMIM:610915, OMIM:610967, OMIM:610968, OMIM:613848, OMIM:613849, OMIM:613982, OMIM:614856, OMIM:615066, OMIM:615220, OMIM:616229, OMIM:616507, OMIM:619131, OMIM:166200, OMIM:166210, OMIM:166220, OMIM:166230, OMIM:259420, OMIM:259440)
ORPHA:66625 — Cerebrooculonasal syndrome (OMIM: OMIM:605627)
ORPHA:66628 — Obesity due to congenital leptin deficiency (OMIM: OMIM:614962)
ORPHA:66629 — Goldberg-Shprintzen megacolon syndrome (OMIM: OMIM:609460)
ORPHA:66630 — Congenital pseudoarthrosis of the clavicle (OMIM: OMIM:118980)
ORPHA:66631 — CEDNIK syndrome (OMIM: OMIM:609528)
ORPHA:66634 — Dilated cardiomyopathy with ataxia (OMIM: OMIM:610198)
ORPHA:66637 — Diaphanospondylodysostosis (OMIM: OMIM:608022)
ORPHA:667 — Autosomal recessive malignant osteopetrosis (OMIM: OMIM:259700, OMIM:259710, OMIM:611490, OMIM:615085)
ORPHA:668 — Osteosarcoma (OMIM: OMIM:259500)
ORPHA:67036 — Autosomal dominant optic atrophy and cataract (OMIM: OMIM:165300)
ORPHA:67038 — B-cell chronic lymphocytic leukemia (OMIM: OMIM:109543, OMIM:151400, OMIM:609630, OMIM:612557, OMIM:612558, OMIM:612559)
ORPHA:67041 — Hyaluronidase deficiency (OMIM: OMIM:601492)
ORPHA:67042 — Late-onset retinal degeneration (OMIM: OMIM:605670)
ORPHA:67044 — Thrombocytopenia with congenital dyserythropoietic anemia (OMIM: OMIM:300367)
ORPHA:67045 — X-linked intellectual disability with isolated growth hormone deficiency (OMIM: OMIM:300123)
ORPHA:67046 — 3-methylglutaconic aciduria type 1 (OMIM: OMIM:250950)
ORPHA:67047 — 3-methylglutaconic aciduria type 3 (OMIM: OMIM:258501)
ORPHA:67048 — 3-methylglutaconic aciduria type 4 (OMIM: OMIM:250951)
ORPHA:672 — Pallister-Hall syndrome (OMIM: OMIM:146510)
ORPHA:672979 — Craniosynostosis-facial dysmorphism-brachydactyly syndrome (OMIM: OMIM:615314)
ORPHA:672985 — Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome (OMIM: OMIM:616602)
ORPHA:673 — Malaria (OMIM: OMIM:611162)
ORPHA:674653 — Actinomyopathy-associated syndromic thrombocytopenia (OMIM: OMIM:620475)
ORPHA:674762 — Early-onset autoinflammatory syndrome due to A20 haploinsufficiency (OMIM: OMIM:616744)
ORPHA:675 — Annular pancreas (OMIM: OMIM:167750)
ORPHA:675216 — Spinocerebellar ataxia type 27B (OMIM: OMIM:620174)
ORPHA:675628 — TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome (OMIM: OMIM:301078)
ORPHA:675767 — Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency (OMIM: OMIM:618752)
ORPHA:676 — Hereditary chronic pancreatitis (OMIM: OMIM:167800)
ORPHA:676039 — Combined immunodeficiency due to FOXN1 haploinsufficiency (OMIM: OMIM:618806)
ORPHA:676125 — X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency (OMIM: OMIM:301074)
ORPHA:678 — Papillon-Lefèvre syndrome (OMIM: OMIM:245000)
ORPHA:679 — Malignant atrophic papulosis (OMIM: OMIM:602248)
ORPHA:681 — Hypokalemic periodic paralysis (OMIM: OMIM:170400, OMIM:613345)
ORPHA:682 — Hyperkalemic periodic paralysis (OMIM: OMIM:170500)
ORPHA:683 — Progressive supranuclear palsy (OMIM: OMIM:610898, OMIM:260540, OMIM:601104, OMIM:609454)
ORPHA:684 — Paramyotonia congenita of Von Eulenburg (OMIM: OMIM:168300)
ORPHA:684216 — Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome (OMIM: OMIM:618798)
ORPHA:684226 — Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome (OMIM: OMIM:617788)
ORPHA:684232 — Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome (OMIM: OMIM:619228, OMIM:619229)
ORPHA:684240 — Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome (OMIM: OMIM:619125)
ORPHA:684247 — Isolated growth hormone deficiency type IV (OMIM: OMIM:618157)
ORPHA:684305 — NOCGUS syndrome (OMIM: OMIM:618652)
ORPHA:685017 — Combined immunodeficiency due to TBX1 deficiency (OMIM: OMIM:188400)
ORPHA:685067 — Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome (OMIM: OMIM:618180)
ORPHA:686447 — IFNG-responsive severe mendelian susceptibility to mycobacterial diseases (OMIM: OMIM:618963, OMIM:620668)
ORPHA:686482 — BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome (OMIM: OMIM:617755)
ORPHA:686488 — RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome (OMIM: OMIM:620851)
ORPHA:686495 — MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome (OMIM: OMIM:619004)
ORPHA:686999 — Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome (OMIM: OMIM:620683)
ORPHA:687695 — 10p13-p14 deletion syndrome (OMIM: OMIM:601362)
ORPHA:688581 — Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome (OMIM: OMIM:300990)
ORPHA:688594 — Combined immunodeficiency due to RELB deficiency (OMIM: OMIM:617585)
ORPHA:688642 — Turnpenny-Fry syndrome (OMIM: OMIM:618371)
ORPHA:689231 — IFH1-related hereditary spastic paraplegia (OMIM: OMIM:615846)
ORPHA:689234 — RNASEH2B-related hereditary spastic paraplegia (OMIM: OMIM:610181)
ORPHA:689397 — Poirier-Bienvenue neurodevelopmental syndrome (OMIM: OMIM:618732)
ORPHA:689408 — Shashi-Pena syndrome (OMIM: OMIM:617190)
ORPHA:689422 — Okur-Chung neurodevelopmental syndrome (OMIM: OMIM:617062)
ORPHA:69061 — Idiopathic steroid-sensitive nephrotic syndrome (OMIM: OMIM:615861)
ORPHA:69076 — Familial renal glucosuria (OMIM: OMIM:233100)
ORPHA:69077 — Rhabdoid tumor (OMIM: OMIM:609322, OMIM:613325)
ORPHA:69078 — Liposarcoma (OMIM: OMIM:613488)
ORPHA:69082 — Odonto-tricho-ungual-digito-palmar syndrome (OMIM: OMIM:601957)
ORPHA:69083 — Ectodermal dysplasia with natal teeth, Turnpenny type (OMIM: OMIM:601345)
ORPHA:69084 — Pure hair and nail ectodermal dysplasia (OMIM: OMIM:602032, OMIM:614928, OMIM:614929, OMIM:614931, OMIM:614927)
ORPHA:69085 — Limb-mammary syndrome (OMIM: OMIM:603543)
ORPHA:69087 — Naegeli-Franceschetti-Jadassohn syndrome (OMIM: OMIM:161000)
ORPHA:69088 — Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome (OMIM: OMIM:300291, OMIM:612132)
ORPHA:69125 — Anonychia with flexural pigmentation (OMIM: OMIM:106750)
ORPHA:69126 — PAPA syndrome (OMIM: OMIM:604416)
ORPHA:69663 — Low phospholipid-associated cholelithiasis (OMIM: OMIM:600803)
ORPHA:69665 — Intrahepatic cholestasis of pregnancy (OMIM: OMIM:147480, OMIM:614972)
ORPHA:69723 — Tyrosinemia type 3 (OMIM: OMIM:276710)
ORPHA:69735 — Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (OMIM: OMIM:137940, OMIM:607823)
ORPHA:69737 — Bosley-Salih-Alorainy syndrome (OMIM: OMIM:601536)
ORPHA:69739 — Athabaskan brainstem dysgenesis syndrome (OMIM: OMIM:601536)
ORPHA:699 — Pearson syndrome (OMIM: OMIM:557000)
ORPHA:7 — 3C syndrome (OMIM: OMIM:220210, OMIM:300963, OMIM:619135, OMIM:619435)
ORPHA:70 — Proximal spinal muscular atrophy (OMIM: OMIM:253300, OMIM:253400, OMIM:253550, OMIM:271150)
ORPHA:700 — Alopecia totalis (OMIM: OMIM:104000, OMIM:300042, OMIM:610753)
ORPHA:701 — Alopecia universalis (OMIM: OMIM:104000, OMIM:203655, OMIM:610753)
ORPHA:702 — Pelizaeus-Merzbacher disease (OMIM: OMIM:312080, OMIM:213900)
ORPHA:704 — Pemphigus vulgaris (OMIM: OMIM:169610)
ORPHA:70472 — Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (OMIM: OMIM:220111, OMIM:619065)
ORPHA:705 — Pendred syndrome (OMIM: OMIM:274600)
ORPHA:70567 — Cholangiocarcinoma (OMIM: OMIM:615619)