TaoMedAI/RareMedData huggingface dataset:
ORPHA:401866 — Childhood-onset spasticity with hyperglycinemia (OMIM: OMIM:616859)
ORPHA:401869 — Multiple mitochondrial dysfunctions syndrome type 1 (OMIM: OMIM:605711)
ORPHA:401874 — Multiple mitochondrial dysfunctions syndrome type 2 (OMIM: OMIM:614299)
ORPHA:401942 — Familial median cleft of the upper and lower lips (OMIM: OMIM:615892)
ORPHA:401945 — Moyamoya disease with early-onset achalasia (OMIM: OMIM:615750)
ORPHA:401948 — Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (OMIM: OMIM:615751)
ORPHA:401953 — Episodic ataxia with slurred speech (OMIM: OMIM:616055)
ORPHA:401964 — Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (OMIM: OMIM:610100)
ORPHA:401973 — MEND syndrome (OMIM: OMIM:300960)
ORPHA:401979 — Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type (OMIM: OMIM:613320)
ORPHA:401986 — 1p31p32 microdeletion syndrome (OMIM: OMIM:613735)
ORPHA:401996 — Karyomegalic interstitial nephritis (OMIM: OMIM:614817)
ORPHA:402003 — Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (OMIM: OMIM:615735)
ORPHA:402041 — Autosomal recessive distal renal tubular acidosis (OMIM: OMIM:267300, OMIM:602722)
ORPHA:402075 — Familial bicuspid aortic valve (OMIM: OMIM:109730, OMIM:614823)
ORPHA:402082 — Progressive myoclonic epilepsy type 5 (OMIM: OMIM:607459)
ORPHA:402364 — Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (OMIM: OMIM:613668)
ORPHA:403 — Familial hyperaldosteronism type I (OMIM: OMIM:103900)
ORPHA:404 — Familial hyperaldosteronism type II (OMIM: OMIM:605635)
ORPHA:404437 — Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome (OMIM: OMIM:615760)
ORPHA:404440 — Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (OMIM: OMIM:615761)
ORPHA:404443 — Tatton-Brown-Rahman syndrome (OMIM: OMIM:615879)
ORPHA:404448 — ADNP syndrome (OMIM: OMIM:615873)
ORPHA:404454 — Alacrimia-choreoathetosis-liver dysfunction syndrome (OMIM: OMIM:615273)
ORPHA:404463 — Multisystemic smooth muscle dysfunction syndrome (OMIM: OMIM:613834)
ORPHA:404466 — Female infertility due to zona pellucida defect (OMIM: OMIM:617712, OMIM:618353, OMIM:615774)
ORPHA:404473 — Severe intellectual disability-progressive spastic diplegia syndrome (OMIM: OMIM:615075)
ORPHA:404476 — Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome (OMIM: OMIM:618272)
ORPHA:404493 — Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency (OMIM: OMIM:616949)
ORPHA:404499 — Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency (OMIM: OMIM:615705)
ORPHA:404546 — DITRA (OMIM: OMIM:614204)
ORPHA:404553 — Adenosine deaminase 2 deficiency (OMIM: OMIM:615688)
ORPHA:404560 — Familial atypical multiple mole melanoma syndrome (OMIM: OMIM:155600, OMIM:606719)
ORPHA:405 — Familial hypocalciuric hypercalcemia (OMIM: OMIM:145980, OMIM:145981, OMIM:600740)
ORPHA:407 — Glycine encephalopathy (OMIM: OMIM:605899)
ORPHA:408 — Isolated glycerol kinase deficiency (OMIM: OMIM:307030)
ORPHA:409 — Hyperkeratosis lenticularis perstans (OMIM: OMIM:144150)
ORPHA:41 — Dyschromatosis symmetrica hereditaria (OMIM: OMIM:127400)
ORPHA:411493 — Pontocerebellar hypoplasia type 10 (OMIM: OMIM:615803)
ORPHA:411511 — Angelman syndrome due to a point mutation (OMIM: OMIM:105830)
ORPHA:411536 — Mild phosphoribosylpyrophosphate synthetase superactivity (OMIM: OMIM:300661)
ORPHA:411543 — Severe phosphoribosylpyrophosphate synthetase superactivity (OMIM: OMIM:300661)
ORPHA:411590 — Wolfram-like syndrome (OMIM: OMIM:614296)
ORPHA:411602 — Hereditary late-onset Parkinson disease (OMIM: OMIM:614251, OMIM:616361, OMIM:168601, OMIM:605543, OMIM:607060, OMIM:607688, OMIM:614203)
ORPHA:411629 — Infantile nephropathic cystinosis (OMIM: OMIM:219800)
ORPHA:411634 — Juvenile nephropathic cystinosis (OMIM: OMIM:219900)
ORPHA:411641 — Ocular cystinosis (OMIM: OMIM:219750)
ORPHA:411709 — Renal agenesis (OMIM: OMIM:191830, OMIM:615721)
ORPHA:411712 — Maternal riboflavin deficiency (OMIM: OMIM:615026)
ORPHA:411788 — Familial isolated trichomegaly (OMIM: OMIM:190330)
ORPHA:411986 — Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome (OMIM: OMIM:615859)
ORPHA:412 — Dysbetalipoproteinemia (OMIM: OMIM:617347)
ORPHA:412022 — Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome (OMIM: OMIM:601552)
ORPHA:412057 — Autosomal recessive cerebellar ataxia due to STUB1 deficiency (OMIM: OMIM:615768)
ORPHA:412069 — AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (OMIM: OMIM:615829)
ORPHA:412181 — Epidermolysis bullosa simplex due to BP230 deficiency (OMIM: OMIM:615425)
ORPHA:412189 — Epidermolysis bullosa simplex due to exophilin 5 deficiency (OMIM: OMIM:615028)
ORPHA:412206 — Primary failure of tooth eruption (OMIM: OMIM:125350)
ORPHA:414 — Gyrate atrophy of choroid and retina (OMIM: OMIM:258870)
ORPHA:415 — Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (OMIM: OMIM:238970)
ORPHA:416 — Primary hyperoxaluria (OMIM: OMIM:259900, OMIM:260000, OMIM:613616)
ORPHA:417 — Neonatal severe primary hyperparathyroidism (OMIM: OMIM:618188, OMIM:239200)
ORPHA:41751 — Bietti crystalline dystrophy (OMIM: OMIM:210370)
ORPHA:418 — Congenital adrenal hyperplasia (OMIM: OMIM:201710, OMIM:201810, OMIM:201910, OMIM:202010, OMIM:202110, OMIM:613571)
ORPHA:419 — Hyperprolinemia type 1 (OMIM: OMIM:239500)
ORPHA:42 — Medium chain acyl-CoA dehydrogenase deficiency (OMIM: OMIM:201450)
ORPHA:420179 — Malan overgrowth syndrome (OMIM: OMIM:614753)
ORPHA:420429 — Glycogen storage disease due to acid maltase deficiency, late-onset (OMIM: OMIM:232300)
ORPHA:420485 — Cranio-cervical dystonia with laryngeal and upper-limb involvement (OMIM: OMIM:615034)
ORPHA:420492 — Adult-onset cervical dystonia, DYT23 type (OMIM: OMIM:614860)
ORPHA:420561 — Temple-Baraitser syndrome (OMIM: OMIM:611816)
ORPHA:420566 — Bleeding disorder due to CalDAG-GEFI deficiency (OMIM: OMIM:615888)
ORPHA:420573 — Severe combined immunodeficiency due to CTPS1 deficiency (OMIM: OMIM:615897)
ORPHA:420584 — Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome (OMIM: OMIM:615849)
ORPHA:420611 — Transient myeloproliferative syndrome (OMIM: OMIM:159595)
ORPHA:42062 — Iminoglycinuria (OMIM: OMIM:242600)
ORPHA:420686 — Woolly hair-palmoplantar keratoderma syndrome (OMIM: OMIM:616099)
ORPHA:420699 — Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency (OMIM: OMIM:619407)
ORPHA:420702 — Autosomal recessive severe congenital neutropenia due to CSF3R deficiency (OMIM: OMIM:617014)
ORPHA:420728 — Combined oxidative phosphorylation defect type 20 (OMIM: OMIM:615917)
ORPHA:420733 — Combined oxidative phosphorylation defect type 21 (OMIM: OMIM:615918)
ORPHA:420741 — RIDDLE syndrome (OMIM: OMIM:611943)
ORPHA:422 — Idiopathic/heritable pulmonary arterial hypertension (OMIM: OMIM:178600, OMIM:265400, OMIM:615342, OMIM:615343, OMIM:615344)
ORPHA:422526 — Hereditary clear cell renal cell carcinoma (OMIM: OMIM:144700)
ORPHA:423 — Malignant hyperthermia of anesthesia (OMIM: OMIM:145600, OMIM:154275, OMIM:154276, OMIM:600467, OMIM:601887, OMIM:601888)
ORPHA:423275 — Spinocerebellar ataxia type 40 (OMIM: OMIM:616053)
ORPHA:423296 — Spinocerebellar ataxia type 38 (OMIM: OMIM:615957)
ORPHA:423384 — Severe congenital neutropenia due to JAGN1 deficiency (OMIM: OMIM:616022)
ORPHA:423454 — Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome (OMIM: OMIM:616029)
ORPHA:423461 — Mucolipidosis type III alpha/beta (OMIM: OMIM:252600)
ORPHA:423470 — Mucolipidosis type III gamma (OMIM: OMIM:252605)
ORPHA:424 — Familial hyperthyroidism due to mutations in TSH receptor (OMIM: OMIM:609152)
ORPHA:424027 — Progressive myoclonic epilepsy type 8 (OMIM: OMIM:616230)
ORPHA:424099 — Colobomatous microphthalmia-rhizomelic dysplasia syndrome (OMIM: OMIM:615877)
ORPHA:424261 — TOR1AIP1-related limb-girdle muscular dystrophy (OMIM: OMIM:617072)
ORPHA:425 — Apolipoprotein A-I deficiency (OMIM: OMIM:618463, OMIM:604091)
ORPHA:425120 — STING-associated vasculopathy with onset in infancy (OMIM: OMIM:615934)
ORPHA:42665 — Tietz syndrome (OMIM: OMIM:103500)
ORPHA:427 — Familial hypoaldosteronism (OMIM: OMIM:203400, OMIM:606984, OMIM:610600)
ORPHA:42775 — PHACE syndrome (OMIM: OMIM:606519)
ORPHA:428 — Autosomal dominant hypocalcemia (OMIM: OMIM:601198, OMIM:615361)
ORPHA:429 — Hypochondroplasia (OMIM: OMIM:146000)
ORPHA:43 — X-linked adrenoleukodystrophy (OMIM: OMIM:300100, OMIM:302700)
ORPHA:431140 — X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome (OMIM: OMIM:300915)
ORPHA:431149 — Combined immunodeficiency due to OX40 deficiency (OMIM: OMIM:615593)
ORPHA:43115 — Hereditary myopathy with lactic acidosis due to ISCU deficiency (OMIM: OMIM:255125)
ORPHA:431166 — Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (OMIM: OMIM:616669, OMIM:616636)
ORPHA:431255 — Scapuloperoneal spinal muscular atrophy (OMIM: OMIM:181405)
ORPHA:431272 — X-linked scapuloperoneal muscular dystrophy (OMIM: OMIM:300695)
ORPHA:431329 — Autosomal recessive spastic paraplegia type 57 (OMIM: OMIM:615658)
ORPHA:431361 — Progressive encephalopathy with leukodystrophy due to DECR deficiency (OMIM: OMIM:616034)
ORPHA:432 — Normosmic congenital hypogonadotropic hypogonadism (OMIM: OMIM:619755, OMIM:146110, OMIM:147950, OMIM:244200, OMIM:308700, OMIM:610628, OMIM:612370, OMIM:612702, OMIM:614837, OMIM:614838, OMIM:614839, OMIM:614840, OMIM:614841, OMIM:614842, OMIM:614858, OMIM:614880, OMIM:615266, OMIM:615269, OMIM:615270)
ORPHA:434179 — Orofaciodigital syndrome type 14 (OMIM: OMIM:615948)
ORPHA:435329 — Familial ossifying fibroma (OMIM: OMIM:137575)
ORPHA:435387 — Autosomal dominant Charcot-Marie-Tooth disease type 2Y (OMIM: OMIM:616687)
ORPHA:435438 — Progressive myoclonic epilepsy type 7 (OMIM: OMIM:616187)
ORPHA:435628 — Keppen-Lubinsky syndrome (OMIM: OMIM:614098)
ORPHA:435651 — CIDEC-related familial partial lipodystrophy (OMIM: OMIM:615238)
ORPHA:435660 — LIPE-related familial partial lipodystrophy (OMIM: OMIM:615980)
ORPHA:435804 — Short stature-advanced bone age-early-onset osteoarthritis syndrome (OMIM: OMIM:165800)
ORPHA:435845 — Lethal neonatal spasticity-epileptic encephalopathy syndrome (OMIM: OMIM:618056, OMIM:614498)
ORPHA:435930 — Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (OMIM: OMIM:212550)
ORPHA:435934 — COG2-CDG (OMIM: OMIM:617395)
ORPHA:435938 — X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome (OMIM: OMIM:300998)
ORPHA:435953 — Progeroid features-hepatocellular carcinoma predisposition syndrome (OMIM: OMIM:616200)
ORPHA:435988 — Chronic atrial and intestinal dysrhythmia syndrome (OMIM: OMIM:616201)
ORPHA:435998 — Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (OMIM: OMIM:616039)
ORPHA:436 — Hypophosphatasia (OMIM: OMIM:146300, OMIM:241500, OMIM:241510)
ORPHA:436141 — HIDEA syndrome (OMIM: OMIM:618493)
ORPHA:436159 — Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (OMIM: OMIM:616100)
ORPHA:436166 — Periodic fever-infantile enterocolitis-autoinflammatory syndrome (OMIM: OMIM:616050)
ORPHA:436169 — Thrombomodulin-related bleeding disorder (OMIM: OMIM:614486)
ORPHA:436174 — Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (OMIM: OMIM:616007)
ORPHA:436182 — Microcephalic primordial dwarfism-insulin resistance syndrome (OMIM: OMIM:617253, OMIM:616541)
ORPHA:436242 — Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease (OMIM: OMIM:616117)
ORPHA:436245 — Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (OMIM: OMIM:616108)
ORPHA:436252 — Combined immunodeficiency-enteropathy spectrum (OMIM: OMIM:243150)
ORPHA:436271 — Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (OMIM: OMIM:619061)
ORPHA:437552 — Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (OMIM: OMIM:615707)
ORPHA:438075 — Ketoacidosis due to monocarboxylate transporter-1 deficiency (OMIM: OMIM:616095)
ORPHA:438114 — RARS-related autosomal recessive hypomyelinating leukodystrophy (OMIM: OMIM:616140)
ORPHA:438117 — Steel syndrome (OMIM: OMIM:615155)
ORPHA:438134 — PCNA-related progressive neurodegenerative photosensitivity syndrome (OMIM: OMIM:615919)
ORPHA:438159 — STAT3-related early-onset multisystem autoimmune disease (OMIM: OMIM:615952)
ORPHA:438178 — Fatty acyl-CoA reductase 1 deficiency (OMIM: OMIM:616154)
ORPHA:438207 — Severe autosomal recessive macrothrombocytopenia (OMIM: OMIM:616176)
ORPHA:438213 — PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (OMIM: OMIM:616158)
ORPHA:438216 — PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (OMIM: OMIM:616158)
ORPHA:438266 — Progressive encephalomyelitis with rigidity and myoclonus (OMIM: OMIM:184850)
ORPHA:438274 — GCGR-related hyperglucagonemia (OMIM: OMIM:619290)
ORPHA:439 — Isolated right ventricular hypoplasia (OMIM: OMIM:277200)
ORPHA:439212 — Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome (OMIM: OMIM:614399)
ORPHA:439218 — KCNQ2-related epileptic encephalopathy (OMIM: OMIM:613720)
ORPHA:439254 — ITM2B amyloidosis (OMIM: OMIM:117300, OMIM:176500)
ORPHA:439822 — PDE4D haploinsufficiency syndrome (OMIM: OMIM:615668)
ORPHA:439854 — Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (OMIM: OMIM:261740)
ORPHA:439897 — Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome (OMIM: OMIM:616258)
ORPHA:44 — Neonatal adrenoleukodystrophy (OMIM: OMIM:202370, OMIM:266510, OMIM:601539, OMIM:614863, OMIM:614867, OMIM:614871, OMIM:614873, OMIM:614877, OMIM:614885, OMIM:614920, OMIM:617370)
ORPHA:440392 — Interstitial lung disease due to SP-C deficiency (OMIM: OMIM:610913)
ORPHA:440402 — Interstitial lung disease due to ABCA3 deficiency (OMIM: OMIM:610921)
ORPHA:440427 — Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (OMIM: OMIM:615486)
ORPHA:440706 — Ribose-5-P isomerase deficiency (OMIM: OMIM:608611)
ORPHA:440713 — Isolated sedoheptulokinase deficiency (OMIM: OMIM:617213)
ORPHA:440731 — L-ferritin deficiency (OMIM: OMIM:615604)
ORPHA:441447 — Early-onset posterior subcapsular cataract (OMIM: OMIM:116600)
ORPHA:441452 — Early-onset lamellar cataract (OMIM: OMIM:600881, OMIM:613763, OMIM:116100)
ORPHA:442835 — Non-specific early-onset epileptic encephalopathy (OMIM: OMIM:618916, OMIM:619606, OMIM:619605, OMIM:619561, OMIM:618910, OMIM:619777, OMIM:619913, OMIM:617020, OMIM:618012, OMIM:617836, OMIM:618067, OMIM:620149, OMIM:620145, OMIM:618201, OMIM:301058, OMIM:620115, OMIM:619317, OMIM:618008, OMIM:618557, OMIM:618559, OMIM:614558, OMIM:615833, OMIM:615871, OMIM:615905, OMIM:616056, OMIM:616211, OMIM:616339, OMIM:616346, OMIM:616366, OMIM:616409, OMIM:617166, OMIM:617105, OMIM:617106, OMIM:617153, OMIM:618468, OMIM:617938, OMIM:617831, OMIM:619124, OMIM:618396, OMIM:617132, OMIM:617162, OMIM:619881, OMIM:619814, OMIM:619970, OMIM:618437, OMIM:619922, OMIM:620033, OMIM:618959, OMIM:615476, OMIM:617665, OMIM:617854, OMIM:617829, OMIM:617830)
ORPHA:443057 — Sporadic porphyria cutanea tarda (OMIM: OMIM:176090)
ORPHA:443062 — Familial porphyria cutanea tarda (OMIM: OMIM:176100)
ORPHA:443073 — Charcot-Marie-Tooth disease type 2S (OMIM: OMIM:616155)
ORPHA:443087 — 46,XY difference of sex development due to testicular 17,20-desmolase deficiency (OMIM: OMIM:614279)
ORPHA:443098 — Hyperostosis cranialis interna (OMIM: OMIM:144755)
ORPHA:443162 — NDE1-related microhydranencephaly (OMIM: OMIM:605013)
ORPHA:443192 — Classic stiff person syndrome (OMIM: OMIM:184850)
ORPHA:443197 — X-linked erythropoietic protoporphyria (OMIM: OMIM:300752)
ORPHA:443236 — Postural orthostatic tachycardia syndrome due to NET deficiency (OMIM: OMIM:604715)
ORPHA:443804 — Focal stiff limb syndrome (OMIM: OMIM:184850)
ORPHA:443811 — PGM3-CDG (OMIM: OMIM:615816)
ORPHA:443950 — DNAJB2-related Charcot-Marie-Tooth disease type 2 (OMIM: OMIM:614881)
ORPHA:443988 — Ventriculomegaly-cystic kidney disease (OMIM: OMIM:219730)
ORPHA:443995 — Mandibulofacial dysostosis with alopecia (OMIM: OMIM:616367)
ORPHA:444 — Marie Unna hereditary hypotrichosis (OMIM: OMIM:146550, OMIM:612841)
ORPHA:444013 — Combined oxidative phosphorylation defect type 23 (OMIM: OMIM:616198)
ORPHA:444048 — 46,XX ovarian dysgenesis-short stature syndrome (OMIM: OMIM:616185)
ORPHA:444069 — Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome (OMIM: OMIM:243605)
ORPHA:444072 — Cerebellar-facial-dental syndrome (OMIM: OMIM:616202)
ORPHA:444077 — Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome (OMIM: OMIM:616368)
ORPHA:444092 — Autoimmune interstitial lung disease-arthritis syndrome (OMIM: OMIM:616414)
ORPHA:444099 — Autosomal dominant spastic paraplegia type 73 (OMIM: OMIM:616282)
ORPHA:444138 — Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome (OMIM: OMIM:616295)
ORPHA:444458 — Combined oxidative phosphorylation defect type 24 (OMIM: OMIM:616239)
ORPHA:444463 — Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency (OMIM: OMIM:619220)
ORPHA:444490 — Familial chylomicronemia syndrome (OMIM: OMIM:118830, OMIM:207750, OMIM:238600, OMIM:615947)
ORPHA:445018 — Combined immunodeficiency due to LRBA deficiency (OMIM: OMIM:614700)
ORPHA:445038 — 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (OMIM: OMIM:619835, OMIM:616271)
ORPHA:445062 — Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome (OMIM: OMIM:616192)
ORPHA:445110 — Limb-girdle muscular dystrophy due to POMK deficiency (OMIM: OMIM:616094)
ORPHA:446 — Neonatal hemochromatosis (OMIM: OMIM:231100)
ORPHA:447 — Paroxysmal nocturnal hemoglobinuria (OMIM: OMIM:300818, OMIM:615399)
ORPHA:447731 — NIK deficiency (OMIM: OMIM:620449)
ORPHA:447737 — Combined immunodeficiency due to DOCK2 deficiency (OMIM: OMIM:616433)
ORPHA:447753 — Autosomal dominant spastic paraplegia type 9A (OMIM: OMIM:601162)
ORPHA:447760 — Autosomal recessive spastic paraplegia type 9B (OMIM: OMIM:616586)
ORPHA:447784 — Mitochondrial pyruvate carrier deficiency (OMIM: OMIM:614741)
ORPHA:447795 — Lipoyl transferase 2 deficiency (OMIM: OMIM:617668)
ORPHA:447877 — Polymerase proofreading-related adenomatous polyposis (OMIM: OMIM:612591, OMIM:615083)
ORPHA:447893 — Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome (OMIM: OMIM:607694)
ORPHA:447896 — Tremor-ataxia-central hypomyelination syndrome (OMIM: OMIM:607694)
ORPHA:447954 — Combined oxidative phosphorylation defect type 25 (OMIM: OMIM:616430)
ORPHA:447961 — Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome (OMIM: OMIM:618373)
ORPHA:447964 — Autosomal dominant Charcot-Marie-Tooth disease type 2V (OMIM: OMIM:616491)
ORPHA:447974 — Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (OMIM: OMIM:616549)
ORPHA:447977 — Progressive scapulohumeroperoneal distal myopathy (OMIM: OMIM:616852)
ORPHA:447997 — Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (OMIM: OMIM:616657)
ORPHA:448010 — CAD-CDG (OMIM: OMIM:616457)
ORPHA:448242 — Autosomal recessive brachyolmia (OMIM: OMIM:271530, OMIM:271630)
ORPHA:448251 — Progressive autosomal recessive ataxia-deafness syndrome (OMIM: OMIM:616291)
ORPHA:448264 — Isolated focal non-epidermolytic palmoplantar keratoderma (OMIM: OMIM:613000, OMIM:616400)
ORPHA:448267 — Regressive spondylometaphyseal dysplasia (OMIM: OMIM:618019)
ORPHA:44890 — Gastrointestinal stromal tumor (OMIM: OMIM:175510, OMIM:606764)
ORPHA:449 — Hepatoblastoma (OMIM: OMIM:114550)
ORPHA:449291 — Symptomatic form of fragile X syndrome in female carriers (OMIM: OMIM:300624)
ORPHA:45 — Adenosine monophosphate deaminase deficiency (OMIM: OMIM:612874, OMIM:615511)
ORPHA:450 — Heterotaxia (OMIM: OMIM:619702, OMIM:270100, OMIM:601086, OMIM:605376, OMIM:306955, OMIM:606325, OMIM:613751, OMIM:614779, OMIM:616749, OMIM:618948, OMIM:617205)
ORPHA:451612 — Familial congenital nasolacrimal duct obstruction (OMIM: OMIM:149700)
ORPHA:452 — X-linked lissencephaly with abnormal genitalia (OMIM: OMIM:300215)
ORPHA:453499 — Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome (OMIM: OMIM:616580)
ORPHA:453504 — Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (OMIM: OMIM:616580)
ORPHA:453521 — Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency (OMIM: OMIM:616127)
ORPHA:453533 — Polyendocrine-polyneuropathy syndrome (OMIM: OMIM:616113)
ORPHA:45358 — Congenital fibrosis of extraocular muscles (OMIM: OMIM:616219, OMIM:135700, OMIM:600638, OMIM:602078, OMIM:609384, OMIM:609428, OMIM:609612)
ORPHA:45448 — Miyoshi myopathy (OMIM: OMIM:254130, OMIM:613318)
ORPHA:454700 — Acquired Creutzfeldt-Jakob disease (OMIM: OMIM:123400)
ORPHA:454718 — Holmes-Adie syndrome (OMIM: OMIM:103100)
ORPHA:454745 — Kuru (OMIM: OMIM:245300)
ORPHA:454840 — NTHL1-related attenuated familial adenomatous polyposis (OMIM: OMIM:616415)
ORPHA:455 — Superficial epidermolytic ichthyosis (OMIM: OMIM:146800)
ORPHA:456312 — Infantile multisystem neurologic-endocrine-pancreatic disease (OMIM: OMIM:616263)
ORPHA:456318 — Hereditary sensory neuropathy-deafness-dementia syndrome (OMIM: OMIM:614116)
ORPHA:456328 — X-linked myotubular myopathy-abnormal genitalia syndrome (OMIM: OMIM:300219)
ORPHA:456369 — Polyglucosan body myopathy type 2 (OMIM: OMIM:616199)
ORPHA:457 — Harlequin ichthyosis (OMIM: OMIM:242500)
ORPHA:457050 — Autosomal dominant mitochondrial myopathy with exercise intolerance (OMIM: OMIM:616209)
ORPHA:457088 — Predisposition to invasive fungal disease due to CARD9 deficiency (OMIM: OMIM:212050)
ORPHA:457185 — Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (OMIM: OMIM:616276)
ORPHA:457193 — KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (OMIM: OMIM:616268)
ORPHA:457212 — Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (OMIM: OMIM:616269)
ORPHA:457223 — Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (OMIM: OMIM:617872)
ORPHA:457240 — X-linked intellectual disability-short stature-overweight syndrome (OMIM: OMIM:300957)
ORPHA:457260 — X-linked intellectual disability-hypotonia-movement disorder syndrome (OMIM: OMIM:300958)
ORPHA:457265 — Progressive myoclonic epilepsy type 9 (OMIM: OMIM:616540)
ORPHA:457279 — Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (OMIM: OMIM:616355)
ORPHA:457284 — Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (OMIM: OMIM:616362)
ORPHA:457351 — Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (OMIM: OMIM:616577)
ORPHA:457359 — Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (OMIM: OMIM:617011)
ORPHA:457375 — ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement (OMIM: OMIM:616647)
ORPHA:457378 — Complex lethal osteochondrodysplasia (OMIM: OMIM:616897)
ORPHA:457395 — Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (OMIM: OMIM:616723)
ORPHA:457406 — Multiple mitochondrial dysfunctions syndrome type 4 (OMIM: OMIM:616370)
ORPHA:457485 — Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (OMIM: OMIM:616638)
ORPHA:458718 — Idiopathic spontaneous coronary artery dissection (OMIM: OMIM:122455)
ORPHA:458798 — Spinocerebellar ataxia type 41 (OMIM: OMIM:616410)
ORPHA:458803 — Spinocerebellar ataxia type 42 (OMIM: OMIM:616795)
ORPHA:459033 — Ataxia-oculomotor apraxia type 4 (OMIM: OMIM:616267)