TaoMedAI/RareMedData huggingface dataset:
ORPHA:352403 — Spectrin-associated autosomal recessive cerebellar ataxia (OMIM: OMIM:615386)
ORPHA:352447 — Progressive external ophthalmoplegia-myopathy-emaciation syndrome (OMIM: OMIM:615084)
ORPHA:352470 — DNA2-related mitochondrial DNA deletion syndrome (OMIM: OMIM:615156)
ORPHA:352479 — ISPD-related limb-girdle muscular dystrophy R20 (OMIM: OMIM:616052)
ORPHA:352490 — Autism spectrum disorder due to AUTS2 deficiency (OMIM: OMIM:615834)
ORPHA:352530 — Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (OMIM: OMIM:613192)
ORPHA:352563 — Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency (OMIM: OMIM:615395)
ORPHA:352577 — Bainbridge-Ropers syndrome (OMIM: OMIM:615485)
ORPHA:352582 — Familial infantile myoclonic epilepsy (OMIM: OMIM:605021)
ORPHA:352587 — Focal epilepsy-intellectual disability-cerebro-cerebellar malformation (OMIM: OMIM:605021)
ORPHA:352596 — Progressive myoclonic epilepsy with dystonia (OMIM: OMIM:615338)
ORPHA:352649 — Brain dopamine-serotonin vesicular transport disease (OMIM: OMIM:618049)
ORPHA:352654 — Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome (OMIM: OMIM:615491)
ORPHA:352657 — Hereditary benign intraepithelial dyskeratosis (OMIM: OMIM:127600)
ORPHA:352662 — Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome (OMIM: OMIM:615225)
ORPHA:352665 — Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion (OMIM: OMIM:616580)
ORPHA:352670 — Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (OMIM: OMIM:615185)
ORPHA:352675 — X-linked Charcot-Marie-Tooth disease type 6 (OMIM: OMIM:300905)
ORPHA:352682 — Cobblestone lissencephaly without muscular or ocular involvement (OMIM: OMIM:615191)
ORPHA:352712 — Facial dysmorphism-immunodeficiency-livedo-short stature syndrome (OMIM: OMIM:615139)
ORPHA:352718 — Progressive retinal dystrophy due to retinol transport defect (OMIM: OMIM:615147)
ORPHA:352731 — Oculocutaneous albinism type 1 (OMIM: OMIM:203100, OMIM:606952)
ORPHA:352737 — Temperature-sensitive oculocutaneous albinism type 1 (OMIM: OMIM:606952)
ORPHA:352745 — Oculocutaneous albinism type 7 (OMIM: OMIM:615179)
ORPHA:353 — Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (OMIM: OMIM:253700)
ORPHA:353217 — Epileptic encephalopathy with global cerebral demyelination (OMIM: OMIM:612949)
ORPHA:353220 — Familial primary localized cutaneous amyloidosis (OMIM: OMIM:105250, OMIM:613955)
ORPHA:353277 — Rubinstein-Taybi syndrome due to CREBBP mutations (OMIM: OMIM:180849)
ORPHA:353281 — Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (OMIM: OMIM:610543)
ORPHA:353284 — Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (OMIM: OMIM:613684)
ORPHA:353298 — Roifman syndrome (OMIM: OMIM:616651)
ORPHA:353308 — Pyruvate carboxylase deficiency, infantile type (OMIM: OMIM:266150)
ORPHA:353314 — Pyruvate carboxylase deficiency, severe neonatal type (OMIM: OMIM:266150)
ORPHA:353320 — Pyruvate carboxylase deficiency, benign type (OMIM: OMIM:266150)
ORPHA:353327 — Congenital myasthenic syndromes with glycosylation defect (OMIM: OMIM:610542, OMIM:614750, OMIM:616227, OMIM:616228)
ORPHA:354 — GM1 gangliosidosis (OMIM: OMIM:230500, OMIM:230600, OMIM:230650)
ORPHA:355 — Gaucher disease (OMIM: OMIM:230800, OMIM:230900, OMIM:231000, OMIM:231005, OMIM:608013, OMIM:610539)
ORPHA:356 — Gerstmann-Straussler-Scheinker syndrome (OMIM: OMIM:137440)
ORPHA:35612 — Nanophthalmos (OMIM: OMIM:613517, OMIM:600165, OMIM:609549, OMIM:611897, OMIM:615972)
ORPHA:35664 — ALDH18A1-related De Barsy syndrome (OMIM: OMIM:219150)
ORPHA:35689 — Primary lateral sclerosis (OMIM: OMIM:611637)
ORPHA:356961 — SLC35A2-CDG (OMIM: OMIM:300896)
ORPHA:356978 — D,L-2-hydroxyglutaric aciduria (OMIM: OMIM:615182)
ORPHA:356996 — ANK3-related intellectual disability-sleep disturbance syndrome (OMIM: OMIM:615493)
ORPHA:357001 — 19p13.13 microdeletion syndrome (OMIM: OMIM:613638)
ORPHA:357008 — Hemolytic uremic syndrome with DGKE deficiency (OMIM: OMIM:615008)
ORPHA:35701 — 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (OMIM: OMIM:605911)
ORPHA:357027 — Hereditary retinoblastoma (OMIM: OMIM:180200)
ORPHA:357034 — Non-hereditary retinoblastoma (OMIM: OMIM:180200)
ORPHA:35704 — L-Arginine:glycine amidinotransferase deficiency (OMIM: OMIM:612718)
ORPHA:357043 — Amyotrophic lateral sclerosis type 4 (OMIM: OMIM:602433)
ORPHA:357058 — Autosomal recessive cutis laxa type 2A (OMIM: OMIM:219200, OMIM:278250)
ORPHA:35706 — Glutaric acidemia type 3 (OMIM: OMIM:231690)
ORPHA:357064 — Autosomal recessive cutis laxa type 2B (OMIM: OMIM:612940)
ORPHA:357074 — Autosomal recessive cutis laxa type 2, classic type (OMIM: OMIM:219200, OMIM:617403, OMIM:617402)
ORPHA:35708 — Aromatic L-amino acid decarboxylase deficiency (OMIM: OMIM:608643)
ORPHA:35710 — Glucose-galactose malabsorption (OMIM: OMIM:606824)
ORPHA:357158 — Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome (OMIM: OMIM:602562)
ORPHA:357175 — Short ulna-dysmorphism-hypotonia-intellectual disability syndrome (OMIM: OMIM:615162)
ORPHA:357225 — Primary non-essential cutis verticis gyrata (OMIM: OMIM:219300)
ORPHA:357237 — Combined immunodeficiency due to CARD11 deficiency (OMIM: OMIM:615206)
ORPHA:357329 — Combined immunodeficiency due to IL21R deficiency (OMIM: OMIM:615207)
ORPHA:357332 — Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome (OMIM: OMIM:615170)
ORPHA:35737 — Morning glory disc anomaly (OMIM: OMIM:120430)
ORPHA:358 — Gitelman syndrome (OMIM: OMIM:263800)
ORPHA:35807 — Malignant germ cell tumor of ovary (OMIM: OMIM:603737)
ORPHA:35858 — Imerslund-Gräsbeck syndrome (OMIM: OMIM:261100, OMIM:618882)
ORPHA:35878 — Hyperinsulinism-hyperammonemia syndrome (OMIM: OMIM:606762)
ORPHA:35909 — Combined deficiency of factor V and factor VIII (OMIM: OMIM:227300, OMIM:227310, OMIM:613625)
ORPHA:36 — Acrocallosal syndrome (OMIM: OMIM:200990)
ORPHA:360 — Glioblastoma (OMIM: OMIM:137800, OMIM:613029)
ORPHA:361 — Familial glucocorticoid deficiency (OMIM: OMIM:202200, OMIM:202355, OMIM:607398, OMIM:609197, OMIM:614736, OMIM:617825)
ORPHA:36258 — Buerger disease (OMIM: OMIM:211480)
ORPHA:363396 — High myopia-sensorineural deafness syndrome (OMIM: OMIM:221200)
ORPHA:363400 — Severe neurodegenerative syndrome with lipodystrophy (OMIM: OMIM:615924)
ORPHA:363409 — Fetal akinesia-cerebral and retinal hemorrhage syndrome (OMIM: OMIM:615368)
ORPHA:363412 — Hypomyelination with brain stem and spinal cord involvement and leg spasticity (OMIM: OMIM:615281)
ORPHA:363417 — Temtamy preaxial brachydactyly syndrome (OMIM: OMIM:605282)
ORPHA:363424 — Multiple mitochondrial dysfunctions syndrome type 3 (OMIM: OMIM:615330)
ORPHA:363429 — Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (OMIM: OMIM:614831, OMIM:616204)
ORPHA:363432 — Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency (OMIM: OMIM:616204)
ORPHA:363444 — THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome (OMIM: OMIM:613680)
ORPHA:363447 — Autosomal dominant childhood-onset proximal spinal muscular atrophy (OMIM: OMIM:158600, OMIM:615290)
ORPHA:363454 — BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (OMIM: OMIM:615290)
ORPHA:363483 — Testicular teratoma (OMIM: OMIM:273300)
ORPHA:363494 — Non-seminomatous germ cell tumor of testis (OMIM: OMIM:273300)
ORPHA:363504 — Germ cell tumor of testis (OMIM: OMIM:273300)
ORPHA:363523 — Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome (OMIM: OMIM:615328)
ORPHA:363528 — Intellectual disability-strabismus syndrome (OMIM: OMIM:615286)
ORPHA:363534 — Mitochondrial DNA depletion syndrome, hepatocerebrorenal form (OMIM: OMIM:271245)
ORPHA:363540 — Leukoencephalopathy with mild cerebellar ataxia and white matter edema (OMIM: OMIM:615651)
ORPHA:36355 — Bleeding disorder due to P2Y12 defect (OMIM: OMIM:609821)
ORPHA:363611 — CTCF-related neurodevelopmental disorder (OMIM: OMIM:615502)
ORPHA:363623 — GMPPB-related limb-girdle muscular dystrophy R19 (OMIM: OMIM:615352)
ORPHA:363649 — Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome (OMIM: OMIM:615381)
ORPHA:363654 — X-linked parkinsonism-spasticity syndrome (OMIM: OMIM:300911)
ORPHA:363665 — Acroosteolysis-keloid-like lesions-premature aging syndrome (OMIM: OMIM:601812)
ORPHA:36367 — Distal deletion 1q syndrome (OMIM: OMIM:612337)
ORPHA:363677 — Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (OMIM: OMIM:605637)
ORPHA:363686 — Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (OMIM: OMIM:615074)
ORPHA:363694 — Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (OMIM: OMIM:613845)
ORPHA:363700 — Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion (OMIM: OMIM:162200)
ORPHA:363705 — Craniofaciofrontodigital syndrome (OMIM: OMIM:114620)
ORPHA:363710 — Spinocerebellar ataxia type 37 (OMIM: OMIM:615945)
ORPHA:363717 — Alexander disease type I (OMIM: OMIM:203450)
ORPHA:363722 — Alexander disease type II (OMIM: OMIM:203450)
ORPHA:363727 — X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (OMIM: OMIM:300835)
ORPHA:363741 — Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome (OMIM: OMIM:601794)
ORPHA:36383 — COL4A1/2-related familial vascular leukoencephalopathy (OMIM: OMIM:175780)
ORPHA:36386 — Hereditary sensory and autonomic neuropathy type 1 (OMIM: OMIM:162400, OMIM:613640, OMIM:613708, OMIM:615632)
ORPHA:36387 — Genetic epilepsy with febrile seizure plus (OMIM: OMIM:618482, OMIM:604233, OMIM:604403, OMIM:609800, OMIM:607681, OMIM:612279, OMIM:613060, OMIM:613828, OMIM:613863, OMIM:616172)
ORPHA:363958 — 17q21.31 microdeletion syndrome (OMIM: OMIM:610443)
ORPHA:363965 — Koolen-De Vries syndrome due to a point mutation (OMIM: OMIM:610443)
ORPHA:36397 — Adiposis dolorosa (OMIM: OMIM:103200)
ORPHA:363972 — Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (OMIM: OMIM:613563)
ORPHA:363981 — Charcot-Marie-Tooth disease type 4B3 (OMIM: OMIM:615284)
ORPHA:363989 — Familial benign flecked retina (OMIM: OMIM:228980)
ORPHA:363992 — Ichthyosis-short stature-brachydactyly-microspherophakia syndrome (OMIM: OMIM:613195, OMIM:615023)
ORPHA:363999 — Non-immune hydrops fetalis (OMIM: OMIM:236750)
ORPHA:364 — Glycogen storage disease due to glucose-6-phosphatase deficiency (OMIM: OMIM:232200, OMIM:232220, OMIM:232240)
ORPHA:364028 — X-linked intellectual disability due to GRIA3 mutations (OMIM: OMIM:300699)
ORPHA:364063 — Infantile epileptic-dyskinetic encephalopathy (OMIM: OMIM:308350)
ORPHA:36426 — Stevens-Johnson syndrome (OMIM: OMIM:608579)
ORPHA:364577 — Intellectual disability-brachydactyly-Pierre Robin syndrome (OMIM: OMIM:608670)
ORPHA:365 — Glycogen storage disease due to acid maltase deficiency (OMIM: OMIM:232300)
ORPHA:366 — Glycogen storage disease due to glycogen debranching enzyme deficiency (OMIM: OMIM:232400)
ORPHA:367 — Glycogen storage disease due to glycogen branching enzyme deficiency (OMIM: OMIM:232500, OMIM:263570)
ORPHA:368 — Glycogen storage disease due to muscle glycogen phosphorylase deficiency (OMIM: OMIM:232600)
ORPHA:36899 — Myoclonus-dystonia syndrome (OMIM: OMIM:616398, OMIM:159900)
ORPHA:369 — Glycogen storage disease due to liver glycogen phosphorylase deficiency (OMIM: OMIM:232700)
ORPHA:369837 — Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome (OMIM: OMIM:615398)
ORPHA:369840 — TRAPPC11-related limb-girdle muscular dystrophy R18 (OMIM: OMIM:615356)
ORPHA:369852 — Congenital neutropenia-myelofibrosis-nephromegaly syndrome (OMIM: OMIM:615285)
ORPHA:369861 — Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome (OMIM: OMIM:616084)
ORPHA:369867 — Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (OMIM: OMIM:615376)
ORPHA:369891 — Developmental delay-facial dysmorphism syndrome due to MED13L deficiency (OMIM: OMIM:616789)
ORPHA:369897 — Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (OMIM: OMIM:615471)
ORPHA:369913 — Combined oxidative phosphorylation defect type 17 (OMIM: OMIM:615440)
ORPHA:369920 — Pontocerebellar hypoplasia type 9 (OMIM: OMIM:615809)
ORPHA:369929 — Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (OMIM: OMIM:615474)
ORPHA:369939 — Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (OMIM: OMIM:300475)
ORPHA:369942 — CADDS (OMIM: OMIM:300475)
ORPHA:369955 — Methylmalonic acidemia with homocystinuria, type cblJ (OMIM: OMIM:614857)
ORPHA:369962 — Methylmalonic acidemia with homocystinuria, type cblX (OMIM: OMIM:309541)
ORPHA:369970 — Microcornea-myopic chorioretinal atrophy-telecanthus syndrome (OMIM: OMIM:615458)
ORPHA:369992 — Severe dermatitis-multiple allergies-metabolic wasting syndrome (OMIM: OMIM:615508)
ORPHA:369999 — Diffuse palmoplantar keratoderma with painful fissures (OMIM: OMIM:148700)
ORPHA:37 — Acrodermatitis enteropathica (OMIM: OMIM:201100)
ORPHA:370002 — Focal palmoplantar keratoderma with joint keratoses (OMIM: OMIM:148700)
ORPHA:370015 — Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (OMIM: OMIM:618728)
ORPHA:370022 — Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome (OMIM: OMIM:615960)
ORPHA:370079 — Proximal 16p11.2 microduplication syndrome (OMIM: OMIM:614671)
ORPHA:370088 — Acute infantile liver failure-multisystemic involvement syndrome (OMIM: OMIM:615438)
ORPHA:370091 — Oculocutaneous albinism type 5 (OMIM: OMIM:615312)
ORPHA:370097 — Oculocutaneous albinism type 6 (OMIM: OMIM:113750)
ORPHA:370103 — Primary dystonia, DYT17 type (OMIM: OMIM:612406)
ORPHA:370334 — Extraskeletal Ewing sarcoma (OMIM: OMIM:612219)
ORPHA:370348 — Peripheral primitive neuroectodermal tumor (OMIM: OMIM:612219)
ORPHA:37042 — Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (OMIM: OMIM:304790)
ORPHA:370921 — STT3A-CDG (OMIM: OMIM:615596)
ORPHA:370924 — STT3B-CDG (OMIM: OMIM:615597)
ORPHA:370927 — SSR4-CDG (OMIM: OMIM:300934)
ORPHA:370933 — GM3 synthase deficiency (OMIM: OMIM:609056)
ORPHA:370943 — Autism spectrum disorder-epilepsy-arthrogryposis syndrome (OMIM: OMIM:615553)
ORPHA:370959 — Congenital muscular dystrophy with cerebellar involvement (OMIM: OMIM:606612, OMIM:613151, OMIM:613155, OMIM:613156, OMIM:615351)
ORPHA:370968 — Congenital muscular dystrophy with intellectual disability (OMIM: OMIM:618992, OMIM:606612, OMIM:608840, OMIM:613155, OMIM:613156, OMIM:615351)
ORPHA:370980 — Congenital muscular dystrophy without intellectual disability (OMIM: OMIM:606612, OMIM:613152)
ORPHA:370997 — Muscle-eye-brain disease with bilateral multicystic leucodystrophy (OMIM: OMIM:616538)
ORPHA:371 — Glycogen storage disease due to muscle phosphofructokinase deficiency (OMIM: OMIM:232800)
ORPHA:371364 — Hypotonia-speech impairment-severe cognitive delay syndrome (OMIM: OMIM:616801, OMIM:615419)
ORPHA:371428 — Multicentric osteolysis-nodulosis-arthropathy spectrum (OMIM: OMIM:259600, OMIM:277950)
ORPHA:373 — Simpson-Golabi-Behmel syndrome (OMIM: OMIM:312870)
ORPHA:375 — Anti-glomerular basement membrane disease (OMIM: OMIM:233450)
ORPHA:37553 — Andersen-Tawil syndrome (OMIM: OMIM:170390)
ORPHA:376 — Gordon syndrome (OMIM: OMIM:114300)
ORPHA:37612 — Episodic ataxia type 1 (OMIM: OMIM:160120)
ORPHA:377 — Gorlin syndrome (OMIM: OMIM:109400)
ORPHA:379 — Chronic granulomatous disease (OMIM: OMIM:233690, OMIM:233700, OMIM:233710, OMIM:306400, OMIM:613960, OMIM:618935)
ORPHA:38 — Acrokeratoelastoidosis of Costa (OMIM: OMIM:101850)
ORPHA:380 — Greig cephalopolysyndactyly syndrome (OMIM: OMIM:175700)
ORPHA:381 — Griscelli syndrome (OMIM: OMIM:214450, OMIM:607624, OMIM:609227)
ORPHA:382 — Guanidinoacetate methyltransferase deficiency (OMIM: OMIM:612736)
ORPHA:384 — Huriez syndrome (OMIM: OMIM:181600)
ORPHA:388 — Hirschsprung disease (OMIM: OMIM:142623, OMIM:600155, OMIM:600156, OMIM:606874, OMIM:606875, OMIM:608462, OMIM:611644, OMIM:613711, OMIM:613712)
ORPHA:38874 — Dihydropyrimidinuria (OMIM: OMIM:222748)
ORPHA:389 — Langerhans cell histiocytosis (OMIM: OMIM:604856)
ORPHA:39041 — Omenn syndrome (OMIM: OMIM:603554)
ORPHA:39044 — Uveal melanoma (OMIM: OMIM:155720, OMIM:606660, OMIM:606661)
ORPHA:391 — Classic Hodgkin lymphoma (OMIM: OMIM:236000, OMIM:300221, OMIM:400021)
ORPHA:391307 — Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (OMIM: OMIM:615541)
ORPHA:391311 — Susceptibility to viral and mycobacterial infections due to STAT1 deficiency (OMIM: OMIM:613796)
ORPHA:391320 — East Texas bleeding disorder (OMIM: OMIM:605913)
ORPHA:391327 — X-linked calvarial hyperostosis (OMIM: OMIM:302030)
ORPHA:391330 — X-linked osteoporosis with fractures (OMIM: OMIM:300910)
ORPHA:391348 — Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome (OMIM: OMIM:615578)
ORPHA:391351 — SURF1-related Charcot-Marie-Tooth disease type 4 (OMIM: OMIM:616684)
ORPHA:391372 — FOXP1 Syndrome (OMIM: OMIM:613670)
ORPHA:391376 — Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome (OMIM: OMIM:615574)
ORPHA:391384 — Familial episodic pain syndrome (OMIM: OMIM:615040, OMIM:615552)
ORPHA:391389 — Familial episodic pain syndrome with predominantly upper body involvement (OMIM: OMIM:615040)
ORPHA:391392 — Familial episodic pain syndrome with predominantly lower limb involvement (OMIM: OMIM:615552)
ORPHA:391397 — Hereditary sensory and autonomic neuropathy type 7 (OMIM: OMIM:615548)
ORPHA:391408 — Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (OMIM: OMIM:616033, OMIM:616817)
ORPHA:391411 — Atypical juvenile parkinsonism (OMIM: OMIM:615528, OMIM:615530)
ORPHA:391417 — HSD10 disease (OMIM: OMIM:300438)
ORPHA:391428 — HSD10 disease, infantile type (OMIM: OMIM:300438)
ORPHA:391457 — HSD10 disease, neonatal type (OMIM: OMIM:300438)
ORPHA:391474 — Frontorhiny (OMIM: OMIM:136760)
ORPHA:391487 — STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (OMIM: OMIM:614162)
ORPHA:391641 — Feingold syndrome type 1 (OMIM: OMIM:164280)
ORPHA:391646 — Feingold syndrome type 2 (OMIM: OMIM:614326)
ORPHA:391665 — Homozygous familial hypercholesterolemia (OMIM: OMIM:143890, OMIM:602247, OMIM:603813, OMIM:144010)
ORPHA:391677 — Short stature-optic atrophy-Pelger-Huët anomaly syndrome (OMIM: OMIM:614800)
ORPHA:392 — Holt-Oram syndrome (OMIM: OMIM:142900)
ORPHA:393 — 46,XX testicular difference of sex development (OMIM: OMIM:278850, OMIM:300833, OMIM:400045)
ORPHA:394 — Homocystinuria due to cystathionine beta-synthase deficiency (OMIM: OMIM:236200)
ORPHA:394529 — Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type (OMIM: OMIM:231680, OMIM:255100)
ORPHA:394532 — Multiple acyl-CoA dehydrogenase deficiency, mild type (OMIM: OMIM:231680, OMIM:255100)
ORPHA:395 — Homocystinuria due to methylene tetrahydrofolate reductase deficiency (OMIM: OMIM:236250)
ORPHA:397 — Giant cell arteritis (OMIM: OMIM:187360)
ORPHA:397590 — Silver-Russell syndrome due to a point mutation (OMIM: OMIM:618908, OMIM:618907, OMIM:616489)
ORPHA:397593 — Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (OMIM: OMIM:615595)
ORPHA:397596 — Activated PI3K-delta syndrome (OMIM: OMIM:615513, OMIM:616005)
ORPHA:397612 — Macrocephaly-developmental delay syndrome (OMIM: OMIM:615637)
ORPHA:397615 — Obesity due to CEP19 deficiency (OMIM: OMIM:615703)
ORPHA:397618 — Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome (OMIM: OMIM:609218)
ORPHA:397623 — Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome (OMIM: OMIM:602471)
ORPHA:397685 — Familial hyperprolactinemia (OMIM: OMIM:615555)
ORPHA:397692 — Hereditary isolated aplastic anemia (OMIM: OMIM:616553)
ORPHA:397709 — Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome (OMIM: OMIM:616354)
ORPHA:397715 — Joubert syndrome with Jeune asphyxiating thoracic dystrophy (OMIM: OMIM:615636, OMIM:616546)
ORPHA:397725 — COASY protein-associated neurodegeneration (OMIM: OMIM:615643)
ORPHA:397735 — Autosomal dominant Charcot-Marie-Tooth disease type 2U (OMIM: OMIM:616280)
ORPHA:397744 — Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome (OMIM: OMIM:614369)
ORPHA:397758 — Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (OMIM: OMIM:616079)
ORPHA:397787 — Combined immunodeficiency due to IKK2 deficiency (OMIM: OMIM:615592)
ORPHA:397922 — Ferro-cerebro-cutaneous syndrome (OMIM: OMIM:301072)
ORPHA:397927 — Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome (OMIM: OMIM:615709)
ORPHA:397933 — Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome (OMIM: OMIM:309530)
ORPHA:397937 — Polyglucosan body myopathy type 1 (OMIM: OMIM:615895)
ORPHA:397946 — Autosomal spastic paraplegia type 58 (OMIM: OMIM:611302)
ORPHA:397951 — Microcephaly-thin corpus callosum-intellectual disability syndrome (OMIM: OMIM:615599)
ORPHA:397959 — TCR-alpha-beta-positive T-cell deficiency (OMIM: OMIM:615387)
ORPHA:397964 — Combined immunodeficiency due to MALT1 deficiency (OMIM: OMIM:615468)
ORPHA:397968 — Charcot-Marie-Tooth disease type 2R (OMIM: OMIM:615490)
ORPHA:397973 — Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome (OMIM: OMIM:606772)
ORPHA:398069 — Schaaf-Yang syndrome (OMIM: OMIM:615547)
ORPHA:398088 — Hereditary cryohydrocytosis with normal stomatin (OMIM: OMIM:185020)
ORPHA:39812 — Graft versus host disease (OMIM: OMIM:614395)
ORPHA:398156 — Oculoauriculofrontonasal syndrome (OMIM: OMIM:601452)
ORPHA:398166 — Focal facial dermal dysplasia (OMIM: OMIM:136500, OMIM:227260, OMIM:614973, OMIM:614974)
ORPHA:398173 — Focal facial dermal dysplasia type II (OMIM: OMIM:614973)
ORPHA:398189 — Focal facial dermal dysplasia type IV (OMIM: OMIM:614974)
ORPHA:399 — Huntington disease (OMIM: OMIM:143100)
ORPHA:399058 — Alpha-B crystallin-related late-onset myopathy (OMIM: OMIM:608810)
ORPHA:399086 — Finnish upper limb-onset distal myopathy (OMIM: OMIM:610099)
ORPHA:399096 — Distal anoctaminopathy (OMIM: OMIM:613319)
ORPHA:399805 — Male infertility with azoospermia or oligozoospermia due to single gene mutation (OMIM: OMIM:619515, OMIM:619673, OMIM:619379, OMIM:619585, OMIM:619646, OMIM:619672, OMIM:619528, OMIM:619645, OMIM:619380, OMIM:619949, OMIM:619826, OMIM:618110, OMIM:620222, OMIM:620084, OMIM:620170, OMIM:620196, OMIM:619878, OMIM:619696, OMIM:619799, OMIM:619828, OMIM:619937, OMIM:619805, OMIM:619689, OMIM:619867, OMIM:619712, OMIM:619803, OMIM:305700, OMIM:617960, OMIM:617706, OMIM:615081, OMIM:617707, OMIM:619108, OMIM:616950, OMIM:619202, OMIM:618115, OMIM:620103, OMIM:108420, OMIM:258150, OMIM:270960, OMIM:309120, OMIM:613957, OMIM:615413, OMIM:615841, OMIM:615842, OMIM:618086)
ORPHA:399808 — Male infertility with teratozoospermia due to single gene mutation (OMIM: OMIM:301059, OMIM:619094, OMIM:619102, OMIM:619144, OMIM:619044, OMIM:619177, OMIM:619145, OMIM:619095, OMIM:619258, OMIM:102530, OMIM:243060, OMIM:613958, OMIM:615413)
ORPHA:40 — Acromesomelic dysplasia, Maroteaux type (OMIM: OMIM:602875)
ORPHA:401764 — Pancytopenia-developmental delay syndrome (OMIM: OMIM:615715)
ORPHA:401768 — Proximal myopathy with extrapyramidal signs (OMIM: OMIM:615673)
ORPHA:401777 — Optic atrophy-intellectual disability syndrome (OMIM: OMIM:615722)
ORPHA:401780 — Autosomal recessive spastic paraplegia type 61 (OMIM: OMIM:615685)
ORPHA:401785 — Autosomal recessive spastic paraplegia type 62 (OMIM: OMIM:615681)
ORPHA:401805 — Autosomal recessive spastic paraplegia type 63 (OMIM: OMIM:615686)
ORPHA:401810 — Autosomal recessive spastic paraplegia type 64 (OMIM: OMIM:615683)
ORPHA:401820 — Autosomal recessive spastic paraplegia type 67 (OMIM: OMIM:615802)
ORPHA:401835 — Autosomal recessive spastic paraplegia type 70 (OMIM: OMIM:620323)
ORPHA:401849 — Autosomal spastic paraplegia type 72 (OMIM: OMIM:615625)
ORPHA:401859 — Lipoic acid synthetase deficiency (OMIM: OMIM:614462)
ORPHA:401862 — Lipoyl transferase 1 deficiency (OMIM: OMIM:616299)