TaoMedAI/RareMedData huggingface dataset:
ORPHA:2026: Gingival fibromatosis-hypertrichosis syndrome
ORPHA:2026: CGHT
ORPHA:2026: Congenital generalized hypertrichosis terminalis
ORPHA:2026: Hirsutism-congenital gingival hyperplasia syndrome
ORPHA:2026: Hypertrichosis with or without gingival hyperplasia
ORPHA:2027: Gingival fibromatosis-progressive deafness syndrome
ORPHA:2027: Gingival fibromatosis-progressive hearing loss syndrome
ORPHA:2027: Jones syndrome
ORPHA:2028: Juvenile hyaline fibromatosis
ORPHA:2028: Murray-Puretic-Drescher syndrome
ORPHA:2028: Puretic syndrome
ORPHA:202940: Anomaly of puberty or/and menstrual cycle of genetic origin
ORPHA:202948: Syndromic microphthalmia-anophthalmia-coloboma
ORPHA:202948: Syndromic microphthalmia
ORPHA:2030: Fibrosarcoma
ORPHA:2031: Hepatic fibrosis-renal cysts-intellectual disability syndrome
ORPHA:2031: Thompson-Baraitser syndrome
ORPHA:2032: Idiopathic pulmonary fibrosis
ORPHA:2032: IPF
ORPHA:2034: Filariasis
ORPHA:2035: Lymphatic filariasis
ORPHA:2036: Scalp-ear-nipple syndrome
ORPHA:2036: Finlay-Marks syndrome
ORPHA:2037: Congenital aortopulmonary window
ORPHA:2037: Congenital aortopulmonary artery fistula
ORPHA:2037: Congenital aortopulmonary septal defect
ORPHA:2038: Pulmonary arteriovenous malformation
ORPHA:2038: PAVM
ORPHA:2039: Congenital systemic arteriovenous fistula
ORPHA:204: Sporadic Creutzfeldt-Jakob disease
ORPHA:204: Sporadic CJD
ORPHA:2040: Congenital respiratory-biliary fistula
ORPHA:2041: Coronary arterial fistula
ORPHA:2044: Floating-Harbor syndrome
ORPHA:2045: FLOTCH syndrome
ORPHA:2045: Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
ORPHA:2047: Flynn-Aird syndrome
ORPHA:2048: Foix-Chavany-Marie syndrome
ORPHA:2048: Bilateral anterior opercular syndrome
ORPHA:2048: Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation
ORPHA:2048: Facio-pharyngo-glosso-masticatory diplegia
ORPHA:205: Crigler-Najjar syndrome
ORPHA:205: Bilirubin uridinediphosphate glucuronosyltransferase deficiency
ORPHA:205: Bilirubin-UGT deficiency
ORPHA:2050: Cole-Carpenter syndrome
ORPHA:2050: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
ORPHA:2052: Fraser syndrome
ORPHA:2052: Cryptophthalmos-syndactyly syndrome
ORPHA:2053: Freeman-Sheldon syndrome
ORPHA:2053: Craniocarpotarsal dysplasia
ORPHA:2053: Craniocarpotarsal dystrophy
ORPHA:2053: Distal arthrogryposis type 2A
ORPHA:2053: Freeman-Burian syndrome
ORPHA:2053: Whistling face syndrome
ORPHA:2056: Essential fructosuria
ORPHA:2056: Fructokinase deficiency
ORPHA:2056: Ketohexokinase deficiency
ORPHA:2057: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
ORPHA:2057: Frydman-Cohen-Karmon syndrome
ORPHA:2058: Fryns-Smeets-Thiry syndrome
ORPHA:2059: Fryns syndrome
ORPHA:2059: Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
ORPHA:2062: Progressive non-infectious anterior vertebral fusion
ORPHA:2062: Copenhagen syndrome
ORPHA:2062: PAVF
ORPHA:2063: Splenogonadal fusion-limb defects-micrognathia syndrome
ORPHA:2063: SGFLD syndrome
ORPHA:2064: Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
ORPHA:2064: Faulk-Epstein-Jones syndrome
ORPHA:206428: Hypoxanthine-guanine phosphoribosyltransferase deficiency
ORPHA:206428: HPRT deficiency
ORPHA:206428: HPRT1 deficiency
ORPHA:206428: Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
ORPHA:206436: Infantile Krabbe disease
ORPHA:206436: Krabbe disease, classic form
ORPHA:206436: Krabbe disease, early-onset
ORPHA:206443: Late-infantile/juvenile Krabbe disease
ORPHA:206443: Krabbe disease, late-onset
ORPHA:206448: Adult Krabbe disease
ORPHA:206470: Cystadenoma of childhood
ORPHA:206470: Cystadenoma of ovary in childhood
ORPHA:206484: Gonadoblastoma
ORPHA:206489: Malignant germ cell tumor of the vagina
ORPHA:206489: Vaginal germ cell cancer
ORPHA:206489: Vaginal germ cell malignant tumor
ORPHA:206492: Vulvovaginal rhabdomyosarcoma
ORPHA:2065: Galloway-Mowat syndrome
ORPHA:2065: Galloway syndrome
ORPHA:2065: Microcephaly-hiatus hernia-nephrotic syndrome
ORPHA:2065: Nephrosis-neuronal dysmigration syndrome
ORPHA:206538: Malignant non-dysgerminomatous germ cell tumor of ovary
ORPHA:206538: Non-dysgerminomatous germ cell cancer of ovary
ORPHA:206546: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
ORPHA:206549: Anoctamin-5-related limb-girdle muscular dystrophy R12
ORPHA:206549: Anoctamin-5-related LGMD R12
ORPHA:206549: Autosomal recessive limb-girdle muscular dystrophy type 2L
ORPHA:206549: LGMD type 2L
ORPHA:206549: LGMD2L
ORPHA:206549: Limb-girdle muscular dystrophy type 2L
ORPHA:206554: Fukutin-related limb-girdle muscular dystrophy R13
ORPHA:206554: Autosomal recessive LGMD type 2M
ORPHA:206554: Autosomal recessive limb-girdle muscular dystrophy type 2M
ORPHA:206554: Fukutin-related LGMD R13
ORPHA:206554: LGMD type 2M
ORPHA:206554: LGMD2M
ORPHA:206559: POMT2-related limb-girdle muscular dystrophy R14
ORPHA:206559: Autosomal recessive limb-girdle muscular dystrophy type 2N
ORPHA:206559: LGMD type 2N
ORPHA:206559: LGMD2N
ORPHA:206559: Limb-girdle muscular dystrophy type 2N
ORPHA:206559: POMT2-related LGMD R14
ORPHA:206564: POMGNT1-related limb-girdle muscular dystrophy R15
ORPHA:206564: Autosomal recessive limb-girdle muscular dystrophy type 2O
ORPHA:206564: LGMD type 2O
ORPHA:206564: LGMD2O
ORPHA:206564: Limb-girdle muscular dystrophy type 2O
ORPHA:206564: POMGNT1-related LGMD R15
ORPHA:206569: Immune-mediated necrotizing myopathy
ORPHA:206569: AINM
ORPHA:206569: Autoimmune necrotizing myositis
ORPHA:206569: IMNM
ORPHA:206569: NAM
ORPHA:206569: Necrotizing autoimmune myositis
ORPHA:206572: Overlap myositis
ORPHA:206572: Adult-onset overlap myositis
ORPHA:206572: Non-specific myositis
ORPHA:206575: Rippling muscle disease with myasthenia gravis
ORPHA:206575: Acquired rippling muscle disease
ORPHA:206575: Immune-mediated rippling muscle disease
ORPHA:206580: Autosomal recessive lower motor neuron disease with childhood onset
ORPHA:206580: Autosomal recessive distal spinal muscular atrophy type 4
ORPHA:206580: Distal spinal muscular atrophy type 4
ORPHA:206580: dSMA4
ORPHA:206583: Adult polyglucosan body disease
ORPHA:206583: APBD
ORPHA:206586: Neurolymphomatosis
ORPHA:206594: Subacute inflammatory demyelinating polyneuropathy
ORPHA:206594: Subacute inflammatory demyelinating polyradiculoneuropathy
ORPHA:206599: Isolated asymptomatic elevation of creatine phosphokinase
ORPHA:206599: Idiopathic asymptomatic hyperCKemia
ORPHA:206599: Isolated asymptomatic hyperCKemia
ORPHA:2066: Gamma-aminobutyric acid transaminase deficiency
ORPHA:2066: GABA transaminase deficiency
ORPHA:206613: Infectious disease with peripheral neuropathy
ORPHA:206634: Genetic skeletal muscle disease
ORPHA:206638: Acquired skeletal muscle disease
ORPHA:206644: Progressive muscular dystrophy
ORPHA:206647: Myotonic dystrophy
ORPHA:206650: Autosomal dominant distal myopathy
ORPHA:206653: Autosomal recessive distal myopathy
ORPHA:206656: Non-dystrophic myopathy
ORPHA:206662: Inclusion myopathy
ORPHA:2067: GAPO syndrome
ORPHA:2067: Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
ORPHA:206701: Bulbospinal muscular atrophy
ORPHA:206704: Bulbospinal muscular atrophy of childhood
ORPHA:206707: Bulbospinal muscular atrophy of adult
ORPHA:206710: Generalized bulbospinal muscular atrophy
ORPHA:2069: Gastrocutaneous syndrome
ORPHA:206953: Muscular lipidosis
ORPHA:206953: Lipid storage myopathy
ORPHA:206959: Muscular glycogenosis
ORPHA:206959: Glycogen storage myopathy
ORPHA:206966: Mitochondrial myopathy
ORPHA:206970: Myotonic syndrome
ORPHA:206973: Congenital myotonia
ORPHA:206976: Periodic paralysis
ORPHA:206982: Muscular tumor
ORPHA:206988: Infectious, fungal or parasitic myopathy
ORPHA:206991: Viral myositis
ORPHA:206994: Bacterial myositis
ORPHA:206997: Parasitic myositis
ORPHA:207: Crouzon syndrome
ORPHA:207: Crouzon craniofacial dysostosis
ORPHA:2070: Eosinophilic gastroenteritis
ORPHA:2070: EGE
ORPHA:2070: Eosinophilic enteritis
ORPHA:2070: Eosinophilic gastroenterocolitis
ORPHA:207000: Fungal myositis
ORPHA:207012: Spinal muscular atrophy associated with central nervous system anomaly
ORPHA:207015: Rare hereditary disease with peripheral neuropathy
ORPHA:207018: Rare hereditary metabolic disease with peripheral neuropathy
ORPHA:207021: Rare hereditary systemic disease with peripheral neuropathy
ORPHA:207025: Rare hereditary neurologic disease with peripheral neuropathy
ORPHA:207028: Cerebellar ataxia with peripheral neuropathy
ORPHA:207038: Acute and subacute inflammatory demyelinating polyneuropathy
ORPHA:207038: Acute and subacute inflammatory demyelinating polyradiculoneuropathy
ORPHA:207046: Malignant lymphoma with peripheral neuropathy
ORPHA:207049: Qualitative or quantitative protein defects in neuromuscular diseases
ORPHA:207052: Qualitative or quantitative defects of sarcoglycan
ORPHA:207052: Sarcoglycanopathy
ORPHA:207060: Qualitative or quantitative defects of alpha-sarcoglycan
ORPHA:207063: Qualitative or quantitative defects of beta-sarcoglycan
ORPHA:207067: Qualitative or quantitative defects of gamma-sarcoglycan
ORPHA:207070: Qualitative or quantitative defects of delta-sarcoglycan
ORPHA:207073: Qualitative or quantitative defects of dysferlin
ORPHA:207073: Dysferlinopathy
ORPHA:207078: Qualitative or quantitative defects of caveolin-3
ORPHA:207078: Caveolinopathy
ORPHA:207085: Qualitative or quantitative defects of dystrophin
ORPHA:207085: Dystrophinopathy
ORPHA:207090: Qualitative or quantitative defects of collagen 6
ORPHA:207094: Laminin subunit alpha 2-related muscular dystrophy
ORPHA:207094: LAMA2-related muscular dystrophy
ORPHA:207094: Qualitative or quantitative defects of merosin
ORPHA:207098: Qualitative or quantitative defects of integrin alpha-7
ORPHA:207098: Integrinopathy
ORPHA:207101: Qualitative or quantitative defects of perlecan
ORPHA:207104: Qualitative or quantitative defects of calpain
ORPHA:207107: Qualitative or quantitative defects of TRIM32
ORPHA:207110: Qualitative or quantitative defects of myotubularin
ORPHA:207113: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
ORPHA:207113: Secondary alpha-dystroglycanopathy
ORPHA:207113: Secondary dystroglycanopathy
ORPHA:207119: Qualitative or quantitative defects of FKRP
ORPHA:207122: Qualitative or quantitative defects of fukutin
ORPHA:2072: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
ORPHA:2072: Cardiovascular Gaucher disease
ORPHA:2072: Gaucher disease type 3C
ORPHA:2072: Gaucher-like disease
ORPHA:2073: Narcolepsy type 1
ORPHA:2073: Gélineau disease
ORPHA:2073: Hypocretin/orexin deficiency syndrome
ORPHA:2073: Narcolepsy-cataplexy
ORPHA:2074: Gemignani syndrome
ORPHA:2074: Spinocerebellar ataxia-amyotrophy-deafness syndrome
ORPHA:2074: Spinocerebellar ataxia-amyotrophy-hearing loss syndrome
ORPHA:2075: Genitopalatocardiac syndrome
ORPHA:2075: Gardner-Silengo-Wachtel syndrome
ORPHA:2076: X-linked intellectual disability-epilepsy syndrome
ORPHA:2077: German syndrome
ORPHA:2077: Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome
ORPHA:2078: Geroderma osteodysplastica
ORPHA:2083: Prominent glabella-microcephaly-hypogenitalism syndrome
ORPHA:2083: MacDermot-Winter syndrome
ORPHA:2084: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
ORPHA:2084: GEMSS syndrome
ORPHA:208441: Bilateral parasagittal parieto-occipital polymicrogyria
ORPHA:208444: Bilateral frontal polymicrogyria
ORPHA:208447: Bilateral generalized polymicrogyria
ORPHA:2085: Glaucoma-sleep apnea syndrome
ORPHA:208508: Autosomal dominant cerebellar ataxia type II
ORPHA:208508: ADCA2
ORPHA:208508: ADCAII
ORPHA:208508: Autosomal dominant cerebellar ataxia type 2
ORPHA:208513: Spinocerebellar ataxia type 29
ORPHA:208513: Congenital nonprogressive spinocerebellar ataxia
ORPHA:208513: SCA29
ORPHA:208524: Herpetiform pemphigus
ORPHA:208593: Genetic hypoparathyroidism
ORPHA:208596: Genetic hyperparathyroidism
ORPHA:2086: Optic pathway glioma
ORPHA:208650: NLRP3-associated autoinflammatory disease
ORPHA:208650: CAPS
ORPHA:208650: Cryopyrin associated periodic syndrome
ORPHA:208650: Cryopyrinopathy
ORPHA:208650: NLRP3-associated AID
ORPHA:208650: NLRP3-associated autoinflammatory syndrome
ORPHA:2088: Fanconi-Bickel syndrome
ORPHA:2088: GSD due to GLUT2 deficiency
ORPHA:2088: Glycogen storage disease due to GLUT2 deficiency
ORPHA:2088: Glycogenosis due to GLUT2 deficiency
ORPHA:2089: Glycogen storage disease due to hepatic glycogen synthase deficiency
ORPHA:2089: GSD due to hepatic glycogen synthase deficiency
ORPHA:2089: GSD type 0a
ORPHA:2089: Glycogen storage disease due to liver glycogen synthase deficiency
ORPHA:2089: Glycogen storage disease type 0a
ORPHA:2089: Glycogenosis type 0a
ORPHA:208974: Chronic acquired demyelinating polyneuropathy
ORPHA:208974: CADP
ORPHA:208978: Chronic polyradiculoneuropathy
ORPHA:208984: Acquired sensory ganglionopathy
ORPHA:208984: Acquired sensory neuronopathy
ORPHA:208989: Non-paraneoplastic sensory ganglionopathy
ORPHA:208989: Non-paraneoplastic sensory neuronopathy
ORPHA:208999: Paraneoplastic sensory ganglionopathy
ORPHA:208999: Paraneoplastic sensory neuronopathy
ORPHA:209: Cutis laxa
ORPHA:2090: GMS syndrome
ORPHA:2090: Goniodysgenesis-intellectual disability-short stature syndrome
ORPHA:209004: Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
ORPHA:209007: Systemic inflammatory disease associated with an acquired peripheral neuropathy
ORPHA:209010: Peripheral neuropathy associated with monoclonal gammopathy
ORPHA:209013: Acquired amyloid peripheral neuropathy
ORPHA:209016: Hematological disease associated with an acquired peripheral neuropathy
ORPHA:209019: Solid tumor associated with an acquired peripheral neuropathy
ORPHA:209024: Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
ORPHA:209024: Qualitative or quantitative defects of protein POMGNT1
ORPHA:209027: Qualitative or quantitative defects of protein glycosyltransferase-like
ORPHA:209030: Qualitative or quantitative defects of protein O-mannosyltransferase 1
ORPHA:209033: Qualitative or quantitative defects of protein O-mannosyltransferase 2
ORPHA:209038: Qualitative or quantitative defects of myofibrillar proteins
ORPHA:209041: Qualitative or quantitative defects of desmin
ORPHA:209044: Qualitative or quantitative defects of alphaB-cristallin
ORPHA:209047: Qualitative or quantitative defects of filamin C
ORPHA:209050: Qualitative or quantitative defects of protein ZASP
ORPHA:209053: Qualitative or quantitative defects of titin
ORPHA:209056: Qualitative or quantitative defects of telethonin
ORPHA:209059: Qualitative or quantitative defects of alpha-actin
ORPHA:2091: Multinodular goiter-cystic kidney-polydactyly syndrome
ORPHA:2091: Daneman-Davy-Mancer syndrome
ORPHA:2091: Thyroid-renal-digital anomalies
ORPHA:209182: Qualitative or quantitative defects of nebulin
ORPHA:209185: Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
ORPHA:209188: Qualitative or quantitative defects of emerin
ORPHA:209193: Qualitative or quantitative defects of selenoprotein N1
ORPHA:209196: Qualitative or quantitative defects of plectin
ORPHA:209199: Qualitative or quantitative defects of protein SERCA1
ORPHA:2092: Focal dermal hypoplasia
ORPHA:2092: Goltz syndrome
ORPHA:2092: Goltz-Gorlin syndrome
ORPHA:209203: Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
ORPHA:209224: Myotilinopathy
ORPHA:209224: Qualitative or quantitative defects of myotilin
ORPHA:209335: Autosomal dominant adult-onset proximal spinal muscular atrophy
ORPHA:209335: Autosomal dominant adult-onset proximal SMA
ORPHA:209335: Autosomal dominant late-onset spinal muscular atrophy, Finkel type
ORPHA:209335: Finkel disease
ORPHA:209335: SMAFK
ORPHA:209341: DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
ORPHA:209341: DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
ORPHA:209341: SMALED1
ORPHA:209370: Severe neonatal-onset encephalopathy with microcephaly
ORPHA:209370: Severe congenital encephalopathy due to MECP2 mutation
ORPHA:2095: Gorlin-Chaudhry-Moss syndrome
ORPHA:2095: Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
ORPHA:2095: Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
ORPHA:2095: Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
ORPHA:2095: GCM syndrome
ORPHA:2097: Grant syndrome
ORPHA:2098: Acromesomelic dysplasia, Grebe type
ORPHA:2098: Chondrodysplasia, Grebe type
ORPHA:209867: Autosomal dominant rhegmatogenous retinal detachment
ORPHA:209902: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
ORPHA:209905: Brain-lung-thyroid syndrome
ORPHA:209905: Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
ORPHA:209908: Isolated childhood apraxia of speech
ORPHA:209908: Isolated CAS
ORPHA:209908: Isolated developmental verbal dyspraxia
ORPHA:209908: Pure CAS
ORPHA:209908: Pure childhood apraxia of speech
ORPHA:209908: Speech and language disorder with orofacial dyspraxia
ORPHA:209908: Speech-language disorder type 1
ORPHA:209916: Extraskeletal myxoid chondrosarcoma
ORPHA:209919: Idiopathic copper-associated cirrhosis
ORPHA:209919: Non-Wilsonian hepatic copper toxicosis of infancy and childhood
ORPHA:209932: Cone dystrophy with supernormal rod response
ORPHA:209932: Cone dystrophy with supernormal rod ERG
ORPHA:209932: Cone dystrophy with supernormal rod electroretinogram
ORPHA:209932: Cone dystrophy with supernormal scotopic electroretinogram
ORPHA:209943: IRVAN syndrome
ORPHA:209943: Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
ORPHA:209951: Autosomal spastic paraplegia type 18
ORPHA:209951: SPG18
ORPHA:209956: Idiopathic uveal effusion syndrome
ORPHA:209959: Phacoanaphylactic uveitis
ORPHA:209959: Endophthalmitis phacoanaphylactica
ORPHA:209959: Lens-induced endophthalmitis
ORPHA:209959: Lens-induced iridocyclitis
ORPHA:209959: Lens-induced uveitis
ORPHA:209959: Phacoallergic endophthalmitis
ORPHA:209959: Phacoantigenic endophthalmitis
ORPHA:209959: Phako-anaphylactic endophthalmitis
ORPHA:209964: Solitary rectal ulcer syndrome
ORPHA:209967: Episodic ataxia type 6
ORPHA:209970: Episodic ataxia type 7
ORPHA:209973: Benign nocturnal alternating hemiplegia of childhood
ORPHA:209978: Alternating hemiplegia
ORPHA:209981: IRIDA syndrome
ORPHA:209981: Iron-refractory iron deficiency anemia
ORPHA:209989: Non-papillary transitional cell carcinoma of the bladder
ORPHA:209989: Non-papillary urothelial carcinoma
ORPHA:210: Cyclosporiasis
ORPHA:2101: Grubben-de Cock-Borghgraef syndrome
ORPHA:2101: Developmental delay-hypotonia-extremities hypertrophy syndrome
ORPHA:210110: Intermediate osteopetrosis
ORPHA:210110: Autosomal recessive intermediate osteopetrosis
ORPHA:210115: Sterile multifocal osteomyelitis with periostitis and pustulosis
ORPHA:210115: Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
ORPHA:210115: DIRA
ORPHA:210115: Interleukin-1 receptor antagonist deficiency
ORPHA:210115: OMPP
ORPHA:210122: Congenital alveolar capillary dysplasia
ORPHA:210122: ACDMPV
ORPHA:210122: Alveolar capillary dysplasia with misalignment of pulmonary veins
ORPHA:210122: Alveolar capillary dysplasia with misalignment of pulmonary vessels
ORPHA:210128: Urocanic aciduria
ORPHA:210128: Encephalopathy due to urocanase deficiency
ORPHA:210133: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
ORPHA:210136: Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
ORPHA:210141: Inherited congenital spastic tetraplegia
ORPHA:210141: Inherited congenital spastic quadriplegia
ORPHA:210144: Lethal polymalformative syndrome, Boissel type
ORPHA:210159: Adult hepatocellular carcinoma
ORPHA:210159: Adult HCC
ORPHA:210163: Congenital lethal myopathy, Compton-North type
ORPHA:2102: GTP cyclohydrolase I deficiency
ORPHA:2102: GTPCH deficiency
ORPHA:2102: Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
ORPHA:210272: Mal de débarquement
ORPHA:210272: Disembarkment syndrome
ORPHA:210272: MdD
ORPHA:210272: MdDS
ORPHA:210272: Sickness of disembarkment
ORPHA:2103: Guillain-Barré syndrome
ORPHA:2103: GBS
ORPHA:2103: Guillain-Barré-Strohl syndrome
ORPHA:2104: Dysmorphism-pectus carinatum-joint laxity syndrome
ORPHA:2104: Guízar Vázquez-Sánchez-Manzano syndrome
ORPHA:210548: Macrocephaly-intellectual disability-autism syndrome
ORPHA:210571: Dystonia 16
ORPHA:210571: DYT16
ORPHA:210571: Early-onset dystonia parkinsonism
ORPHA:210576: Congenital temporomandibular joint ankylosis
ORPHA:210576: Congenital trismus
ORPHA:210581: Temporomandibular joint anomaly
ORPHA:210584: Spindle cell hemangioma
ORPHA:210584: Spindle cell hemangioendothelioma
ORPHA:210589: Rare infantile hemangioma
ORPHA:210589: Infantile hemangioma of rare localization
ORPHA:2107: Hall-Riggs syndrome
ORPHA:2108: Hallermann-Streiff syndrome
ORPHA:2108: François dyscephalic syndrome
ORPHA:2108: Oculomandibulofacial syndrome
ORPHA:2109: Hallermann-Streiff-like syndrome
ORPHA:2109: Dennis-Fairhurst-Moore syndrome
ORPHA:2109: Hallermann-Streiff-François syndrome, severe form
ORPHA:2109: Severe Hallermann-Streiff-François syndrome
ORPHA:211: Familial cylindromatosis
ORPHA:211: Turban tumor syndrome
ORPHA:2110: Hallux varus-preaxial polysyndactyly syndrome
ORPHA:2110: Kleiner-Holmes syndrome
ORPHA:211017: Spinocerebellar ataxia type 30
ORPHA:211017: SCA30
ORPHA:211037: Autosomal dominant proximal spinal muscular atrophy
ORPHA:211047: Specific learning disability
ORPHA:211047: Specific learning difficulty
ORPHA:211047: Specific learning disorder
ORPHA:211053: Specific language disorder
ORPHA:211053: Dysphasia
ORPHA:211062: Hereditary episodic ataxia
ORPHA:211067: Episodic ataxia type 5
ORPHA:2111: Cystic hamartoma of lung and kidney
ORPHA:2111: Graham-Boyle-Troxell syndrome
ORPHA:211237: Rare vascular tumor
ORPHA:211240: Genetic vascular anomaly
ORPHA:211243: Simple vascular malformation
ORPHA:211247: Rare capillary malformation
ORPHA:211252: Rare venous malformation
ORPHA:211255: Rare lymphatic system anomaly
ORPHA:211266: Rare arteriovenous malformation
ORPHA:211277: Complex vascular malformation with associated anomalies
ORPHA:211277: Hemangiolymphangioma
ORPHA:2114: Hip dysplasia, Beukes type
ORPHA:2114: BFHD
ORPHA:2114: Beukes familial hip dysplasia
ORPHA:2114: Cilliers-Beighton syndrome
ORPHA:2114: Premature degenerative osteoarthropathy of the hip
ORPHA:2115: Harrod syndrome
ORPHA:2115: Cranio-facio-digito-genital syndrome
ORPHA:2116: Hartnup disease
ORPHA:2116: Aminoaciduria, Hartnup type
ORPHA:2116: Hartnup disorder
ORPHA:2117: Hartsfield syndrome
ORPHA:2117: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
ORPHA:2118: Hawkinsinuria
ORPHA:2118: 4-HPPD deficiency
ORPHA:2118: 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
ORPHA:2118: 4-hydroxyphenylpyruvic acid dioxygenase deficiency
ORPHA:2119: HEC syndrome
ORPHA:2119: Hydrocephalus-endocardial fibroelastosis-cataract syndrome
ORPHA:212: Cystathioninuria
ORPHA:212: Cystathionase deficiency
ORPHA:212: Cystathionine gamma-lyase deficiency syndrome
ORPHA:212: Gamma-cystathionase deficiency
ORPHA:2122: Kaposiform hemangioendothelioma
ORPHA:2123: Multifocal infantile hemangioma with extracutenous involvement
ORPHA:2123: Diffuse neonatal hemangiomatosis
ORPHA:2126: Solitary fibrous tumor
ORPHA:2126: SFT
ORPHA:2128: Isolated hemihyperplasia
ORPHA:2128: Hemi 3 syndrome
ORPHA:2128: Hemicorporal hypertrophy
ORPHA:2128: Isolated hemihypertrophy
ORPHA:213: Cystinosis
ORPHA:213: Protein defect of cystin transport
ORPHA:2130: Non-syndromic hemimelia
ORPHA:2130: Non-syndromic longitudinal meromelia
ORPHA:2131: Alternating hemiplegia of childhood
ORPHA:2131: AHC
ORPHA:2132: Hemoglobin C disease
ORPHA:2133: Hemoglobin E disease
ORPHA:2134: Atypical hemolytic uremic syndrome
ORPHA:2134: Atypical HUS
ORPHA:2134: aHUS
ORPHA:2135: Cutaneous mastocytosis-deafness-microtia syndrome
ORPHA:2135: Cutaneous mastocytosis-hearing loss-microtia syndrome
ORPHA:2135: Mastocytosis-short stature-deafness syndrome
ORPHA:2135: Mastocytosis-short stature-hearing loss syndrome
ORPHA:213500: Ovarian cancer
ORPHA:213500: Ovarian malignant tumor
ORPHA:213504: Adenocarcinoma of ovary
ORPHA:213504: Ovarian adenocarcinoma