TaoMedAI/RareMedData huggingface dataset:
ORPHA:182734: Genetic urticaria
ORPHA:183: Eosinophilic granulomatosis with polyangiitis
ORPHA:183: Churg-Strauss syndrome
ORPHA:183: EGPA
ORPHA:183: Granulomatous allergic angiitis
ORPHA:1830: Schimke immuno-osseous dysplasia
ORPHA:1830: Schimke syndrome
ORPHA:1830: Spondyloepiphyseal dysplasia-nephrotic syndrome
ORPHA:1832: Osteosclerotic bone dysplasia
ORPHA:1832: Raine syndrome
ORPHA:1834: Axial mesodermal dysplasia spectrum
ORPHA:1834: Blastogenesis defect
ORPHA:1834: Russell-Weaver-Bull syndrome
ORPHA:183422: Polymalformative genetic syndrome with increased risk of developing cancer
ORPHA:183426: Genetic epidermal disorder
ORPHA:183435: Inherited ichthyosis
ORPHA:183435: Genetic ichthyosis
ORPHA:183438: Genetic erythrokeratoderma
ORPHA:183441: Genetic acrokeratoderma
ORPHA:183444: Genetic porokeratosis
ORPHA:183447: Genetic epidermal appendage anomaly
ORPHA:183450: Genetic hair anomaly
ORPHA:183454: Genetic nail anomaly
ORPHA:183460: Genetic sebaceous gland anomaly
ORPHA:183463: Genetic pigmentation anomaly of the skin
ORPHA:183466: Genetic hyperpigmentation of the skin
ORPHA:183469: Genetic hypopigmentation of the skin
ORPHA:183472: Genetic dermis disorder
ORPHA:183478: Genetic skin vascular disorder
ORPHA:183481: Genetic mixed dermis disorder
ORPHA:183484: Genetic subcutaneous tissue disorder
ORPHA:183487: Genetic skin tumor or hamartoma
ORPHA:183490: Genetic photodermatosis
ORPHA:183490: Genetic skin photosensitivity
ORPHA:183490: Photogenodermatosis
ORPHA:183490: Photogénodermatose
ORPHA:183494: Genetic immune deficiency with skin involvement
ORPHA:183497: Genetic neuromuscular disease
ORPHA:183500: Genetic neurodegenerative disease
ORPHA:183503: Genetic central nervous system and retinal vascular disease
ORPHA:183506: Genetic central nervous system malformation
ORPHA:183509: Rare genetic headache
ORPHA:183512: Rare genetic epilepsy
ORPHA:183515: Rare genetic medullar disease
ORPHA:183518: Hereditary ataxia
ORPHA:183521: Rare genetic movement disorder
ORPHA:183524: Rare genetic bone disease
ORPHA:183527: Genetic bone tumor
ORPHA:183530: Rare genetic developmental defect during embryogenesis
ORPHA:183533: Genetic multiple congenital anomalies/dysmorphic syndrome
ORPHA:183536: Genetic congenital limb malformation
ORPHA:183539: Genetic renal or urinary tract malformation
ORPHA:183542: Genetic cranial malformation
ORPHA:183545: Genetic digestive tract malformation
ORPHA:183548: Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
ORPHA:183554: Genetic respiratory or mediastinal malformation
ORPHA:183557: Genetic developmental defect of the eye
ORPHA:183570: Genetic malformation syndrome with short stature
ORPHA:183573: Genetic overgrowth/obesity syndrome
ORPHA:183576: Genetic branchial arch or oral-acral syndrome
ORPHA:183580: Genetic malformation syndrome with odontal and/or periodontal component
ORPHA:183583: Genetic head and neck malformation
ORPHA:183586: Genetic glomerular disease
ORPHA:183589: Genetic thrombotic microangiopathy
ORPHA:183592: Genetic renal tubular disease
ORPHA:183595: Genetic renal tumor
ORPHA:1836: Mesomelic dysplasia, Kantaputra type
ORPHA:1836: Kantaputra mesomelic dysplasia
ORPHA:1836: MDK
ORPHA:1836: Mesomelic dysplasia, Thai type
ORPHA:183607: Genetic lens and zonula anomaly
ORPHA:183616: Genetic neuro-ophthalmological disease
ORPHA:183619: Genetic eye tumor
ORPHA:183622: Genetic respiratory malformation
ORPHA:183625: Rare genetic diabetes mellitus
ORPHA:183628: Rare genetic hypothalamic or pituitary disease
ORPHA:183631: Rare genetic thyroid disease
ORPHA:183634: Rare genetic parathyroid disease and phosphocalcic metabolism disorder
ORPHA:183637: Rare genetic adrenal disease
ORPHA:183643: Genetic polyendocrinopathy
ORPHA:183651: Rare constitutional anemia
ORPHA:183654: Rare genetic coagulation disorder
ORPHA:183660: Severe combined immunodeficiency
ORPHA:183660: SCID
ORPHA:183663: Hyper-IgM syndrome with susceptibility to opportunistic infections
ORPHA:183663: HIGM with susceptibility to opportunistic infections
ORPHA:183666: Hyper-IgM syndrome without susceptibility to opportunistic infections
ORPHA:183666: HIGM without susceptibility to opportunistic infections
ORPHA:183669: Agammaglobulinemia
ORPHA:183675: Recurrent infections associated with rare immunoglobulin isotypes deficiency
ORPHA:183675: IgG subclass deficiency with IgA subclass deficiency
ORPHA:183675: Isolated IgG subclass deficiency
ORPHA:183675: Kappa-chain deficiency
ORPHA:183675: Selective IgG subclass deficiency
ORPHA:183678: Hermansky-Pudlak syndrome due to AP-3 deficiency
ORPHA:183678: Hermansky-Pudlak syndrome due to Adaptator-related protein complex 3 deficiency
ORPHA:183678: Hermansky-Pudlak syndrome with neutropenia
ORPHA:183678: Syndrome de Hermansky-Pudlak par déficit en adaptator-related protein complex 3
ORPHA:183681: Congenital functional phagocyte defect
ORPHA:183681: Congenital functional defect of phagocyte
ORPHA:183681: Constitutional functional phagocyte defect
ORPHA:1837: Metaphyseal chondrodysplasia, Rosenberg type
ORPHA:1837: Rosenberg-Lohr syndrome
ORPHA:183707: Infantile LAD-like disease due to RAC2 deficiency
ORPHA:183707: Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
ORPHA:183710: Genetic susceptibility to infections due to particular pathogens
ORPHA:183731: Rare genetic gynecological and obstetrical diseases
ORPHA:183734: Genetic gynecological tumor
ORPHA:183757: Rare genetic intellectual disability
ORPHA:183763: Rare genetic syndromic intellectual disability
ORPHA:183770: Rare genetic immune disease
ORPHA:1839: Hereditary mucoepithelial dysplasia
ORPHA:1839: Urban-Schosser-Spohn syndrome
ORPHA:184: Cherubism
ORPHA:184: CRBM
ORPHA:1842: Bone dysplasia, lethal Holmgren type
ORPHA:1842: Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
ORPHA:1848: Renal agenesis, bilateral
ORPHA:185: Scimitar syndrome
ORPHA:185: Congenital pulmonary venolobar syndrome
ORPHA:185: Epibronchial right pulmonary vein syndrome
ORPHA:185: Halasz syndrome
ORPHA:185: Hypogenetic lung syndrome
ORPHA:1851: Multicystic dysplastic kidney
ORPHA:1851: MCDK
ORPHA:1851: Multicystic renal dysplasia
ORPHA:1852: X-linked retinal dysplasia
ORPHA:1855: Spondyloenchondrodysplasia
ORPHA:1855: SPENCD
ORPHA:1855: Spondyloenchondromatosis
ORPHA:1855: Spondylometaphyseal dysplasia with enchondromatous changes
ORPHA:1856: Spondyloperipheral dysplasia-short ulna syndrome
ORPHA:1858: Skeletal dysplasia-epilepsy-short stature syndrome
ORPHA:1858: Gurrieri-Sammito-Bellussi syndrome
ORPHA:186: Primary biliary cholangitis
ORPHA:186: Hanot syndrome
ORPHA:186: PBC
ORPHA:186: Primary biliary cirrhosis
ORPHA:1860: Thanatophoric dysplasia type 1
ORPHA:1860: TD1
ORPHA:1860: Thanatophoric dwarfism type 1
ORPHA:1861: Thoracic dysplasia-hydrocephalus syndrome
ORPHA:1865: Dyssegmental dysplasia, Silverman-Handmaker type
ORPHA:1866: Focal, segmental or multifocal dystonia
ORPHA:1867: Hereditary bullous dystrophy, macular type
ORPHA:187: Citrullinemia
ORPHA:1871: Progressive cone dystrophy
ORPHA:1871: Cone dystrophy
ORPHA:1872: Cone rod dystrophy
ORPHA:1873: Jalili syndrome
ORPHA:1873: Cone rod dystrophy-amelogenesis imperfecta syndrome
ORPHA:1875: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
ORPHA:1875: Bassoe syndrome
ORPHA:1876: Oculogastrointestinal muscular dystrophy
ORPHA:1876: Visceral myopathy-familial external ophthalmoplegia syndrome
ORPHA:1878: TRIM32-related limb-girdle muscular dystrophy R8
ORPHA:1878: Autosomal recessive limb-girdle muscular dystrophy type 2H
ORPHA:1878: LGMD due to TRIM32 deficiency
ORPHA:1878: LGMD type 2H
ORPHA:1878: LGMD2H
ORPHA:1878: Limb-girdle muscular dystrophy due to TRIM32 deficiency
ORPHA:1878: Limb-girdle muscular dystrophy type 2H
ORPHA:1878: Sarcotubular myopathy
ORPHA:1878: TRIM32-related LGMD R8
ORPHA:1879: Melorheostosis with osteopoikilosis
ORPHA:1879: MSBD syndrome
ORPHA:1879: Mixed sclerosing bone dystrophy
ORPHA:188: Systemic capillary leak syndrome
ORPHA:188: Capillary hyperpermeability syndrome
ORPHA:188: Capillary leak syndrome
ORPHA:188: Clarkson disease
ORPHA:188: Idiopathic capillary leak syndrome
ORPHA:188: SCLS
ORPHA:1880: Ebstein malformation of the tricuspid valve
ORPHA:1880: Ebstein anomaly of the tricuspid valve
ORPHA:1882: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
ORPHA:1882: ANOTHER syndrome
ORPHA:1882: HEDH syndrome
ORPHA:1883: Ectodermal dysplasia-sensorineural deafness syndrome
ORPHA:1883: Ectodermal dysplasia-sensorineural hearing loss syndrome
ORPHA:1884: Ectopia lentis-chorioretinal dystrophy-myopia syndrome
ORPHA:1884: Noble-Bass-Sherman syndrome
ORPHA:1885: Isolated ectopia lentis
ORPHA:1885: Ectopia lentis syndrome
ORPHA:1885: Familial ectopia lentis
ORPHA:189: Hidrotic ectodermal dysplasia
ORPHA:189: Clouston syndrome
ORPHA:1891: Intellectual disability-spasticity-ectrodactyly syndrome
ORPHA:1891: Jancar syndrome
ORPHA:1892: Ectrodactyly-polydactyly syndrome
ORPHA:189427: Cushing syndrome due to bilateral macronodular adrenocortical disease
ORPHA:189427: CS due to BMACD
ORPHA:189427: CS due to BMAD
ORPHA:189427: Cushing syndrome due to BMACD
ORPHA:189427: Cushing syndrome due to BMAD
ORPHA:189427: Cushing syndrome due to macronodular adrenal hyperplasia
ORPHA:189427: Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
ORPHA:189466: Familial isolated hypoparathyroidism due to impaired PTH secretion
ORPHA:1895: Edinburgh malformation syndrome
ORPHA:1895: Typus Edinburgensis
ORPHA:1896: EEC syndrome
ORPHA:1896: Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
ORPHA:1897: EEM syndrome
ORPHA:1897: Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
ORPHA:1899: Arthrochalasia Ehlers-Danlos syndrome
ORPHA:1899: Arthrochalasia EDS
ORPHA:1899: Arthrochalasis multiplex congenita
ORPHA:1899: EDS VII
ORPHA:1899: Ehlers-Danlos syndrome type 7
ORPHA:1899: Ehlers-Danlos syndrome, arthrochalasia type
ORPHA:1899: aEDS
ORPHA:19: 2-hydroxyglutaric aciduria
ORPHA:19: 2-hydroxyglutaric acidemia
ORPHA:190: Coats disease
ORPHA:190: Congenital retinal telangiectasia
ORPHA:190: Leber miliary aneurysm
ORPHA:1900: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
ORPHA:1900: Cutis hyperelastica
ORPHA:1900: EDS VIA
ORPHA:1900: Ehlers-Danlos syndrome type 6A
ORPHA:1900: Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
ORPHA:1900: Lysyl hydroxylase-deficient EDS
ORPHA:1900: Ocular-scoliotic EDS
ORPHA:1900: kEDS-PLOD1
ORPHA:1901: Dermatosparaxis Ehlers-Danlos syndrome
ORPHA:1901: Dermatosparaxis EDS
ORPHA:1901: Ehlers-Danlos syndrome type 7C
ORPHA:1901: Human dermatosparaxis EDS VIIC
ORPHA:1901: dEDS
ORPHA:1902: Ehrlichiosis
ORPHA:1906: Fetal valproate spectrum disorder
ORPHA:1906: Fetal valproate syndrome
ORPHA:1906: Fetal valproic acid syndrome
ORPHA:1906: Valproic acid embryopathy
ORPHA:1908: Aminopterin/methotrexate embryofetopathy
ORPHA:1908: Aminopterin embryopathy syndrome
ORPHA:1908: Fetal aminopterin syndrome
ORPHA:1909: Indomethacin embryofetopathy
ORPHA:1909: Fetal indomethacin syndrome
ORPHA:191: Cockayne syndrome
ORPHA:1910: Fetal iodine syndrome
ORPHA:1911: Cocaine embryofetopathy
ORPHA:1911: Fetal cocaine syndrome
ORPHA:1912: Fetal hydantoin syndrome
ORPHA:1912: Fetal dihydantoin syndrome
ORPHA:1912: Phenytoin embryofetopathy
ORPHA:1913: Fetal trimethadione syndrome
ORPHA:1914: Vitamin K antagonist embryofetopathy
ORPHA:1914: Vitamin K antagonist embryopathy
ORPHA:1914: Warfarin embryofetopathy
ORPHA:1914: Warfarin embryopathy
ORPHA:1914: di Sala syndrome
ORPHA:1915: Fetal alcohol syndrome
ORPHA:1915: ARBD
ORPHA:1915: ARND
ORPHA:1915: Alcohol-related birth defects
ORPHA:1915: Alcohol-related neurodevelopmental disorder
ORPHA:1915: FAS
ORPHA:1915: FASD
ORPHA:1915: Fetal alcohol spectrum disorders
ORPHA:1916: Diethylstilbestrol syndrome
ORPHA:1916: DES embryofetopathy
ORPHA:1916: DES syndrome
ORPHA:1916: Diethylstilbestrol embryofetopathy
ORPHA:1916: Distilbene embryofetopathy
ORPHA:1917: Fetal methylmercury syndrome
ORPHA:1917: Congenital Minamata disease
ORPHA:1917: Fetal methylmercury poisoning
ORPHA:1917: Intrauterine methylmercury poisoning
ORPHA:1917: Prenatal methylmercury poisoning
ORPHA:1918: Fetal minoxidil syndrome
ORPHA:1918: Minoxidil antenatal exposure
ORPHA:1919: Phenobarbital embryopathy
ORPHA:192: Coffin-Lowry syndrome
ORPHA:192: CLS
ORPHA:1920: Toluene embryopathy
ORPHA:1923: Methimazole embryofetopathy
ORPHA:1923: MMI/CMZ embryofetopathy
ORPHA:1923: MMI/CMZ embryopathy
ORPHA:1923: Methimazole/carbimazole embryofetopathy
ORPHA:1923: Methimazole/carbimazole embryopathy
ORPHA:1926: Diabetic embryopathy
ORPHA:1926: Diabetes-induced teratogenicity
ORPHA:1927: Emery-Nelson syndrome
ORPHA:1927: Hand and foot deformity-flat facies syndrome
ORPHA:1928: Congenital lobar emphysema
ORPHA:1928: Congenital lobar hyperinflation
ORPHA:1928: Infantile lobar hyperinflation
ORPHA:1929: Rasmussen subacute encephalitis
ORPHA:1929: Rasmussen syndrome
ORPHA:193: Cohen syndrome
ORPHA:1930: Herpes simplex virus encephalitis
ORPHA:1930: HSE
ORPHA:1930: HSV encephalitis
ORPHA:1930: HSVE
ORPHA:1930: Herpes simplex meningo-encephalitis
ORPHA:1930: Herpes simplex neuroinvasion
ORPHA:1930: Herpetic encephalitis
ORPHA:1931: Frontal encephalocele
ORPHA:1931: Anterior encephalocele
ORPHA:1933: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
ORPHA:1933: Booth-Haworth-Dilling syndrome
ORPHA:1933: Mitochondrial encephalomyopathy-aminoacidopathy syndrome
ORPHA:1933: mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
ORPHA:1934: Early infantile epileptic encephalopathy
ORPHA:1934: EIEE
ORPHA:1934: Early infantile epileptic encephalopathy with suppression-bursts
ORPHA:1934: Ohtahara syndrome
ORPHA:1937: Eng-Strom syndrome
ORPHA:1937: Short stature-locking fingers syndrome
ORPHA:1941: Juvenile absence epilepsy
ORPHA:1941: JAE
ORPHA:1942: Myoclonic-astatic epilepsy
ORPHA:1942: Doose syndrome
ORPHA:1942: EMAS
ORPHA:1942: Epilepsy with myoclonic-astatic seizures
ORPHA:1942: Epilepsy with myoclonic-atonic seizures
ORPHA:1942: MAE
ORPHA:1942: Myoclonic atonic epilepsy
ORPHA:1942: Myoclonic-astatic epilepsy in early childhood
ORPHA:1943: Early-onset progressive encephalopathy with migrant continuous myoclonus
ORPHA:1945: Self-limited epilepsy with centrotemporal spikes
ORPHA:1945: BECRS
ORPHA:1945: BECTS
ORPHA:1945: BRE
ORPHA:1945: Benign epilepsy of childhood with centrotemporal spikes
ORPHA:1945: Benign familial epilepsy of childhood with rolandic spikes
ORPHA:1945: Benign rolandic epilepsy
ORPHA:1945: Centrotemporal epilepsy
ORPHA:1945: Rolandic epilepsy
ORPHA:1945: SeLECTS
ORPHA:1946: Amelocerebrohypohidrotic syndrome
ORPHA:1946: Epilepsy-dementia-amelogenesis imperfecta syndrome
ORPHA:1946: Kohlschütter-Tönz syndrome
ORPHA:1947: Progressive epilepsy-intellectual disability syndrome, Finnish type
ORPHA:1947: CLN8 disease, Northern epilepsy variant
ORPHA:1947: NCL, Northern epilepsy variant
ORPHA:1947: Neuronal ceroid lipofuscinosis, Northern epilepsy variant
ORPHA:1947: Northern epilepsy
ORPHA:1948: Epilepsy-microcephaly-skeletal dysplasia syndrome
ORPHA:1948: Battaglia-Neri syndrome
ORPHA:1949: Self-limited neonatal epilepsy
ORPHA:1949: BFNS
ORPHA:1949: Benign familial neonatal convulsions
ORPHA:1949: Benign familial neonatal epilepsy
ORPHA:1949: Benign familial neonatal seizures
ORPHA:1949: SeLNE
ORPHA:195: Cat-eye syndrome
ORPHA:195: CES
ORPHA:1951: Epilepsy-telangiectasia syndrome
ORPHA:1952: Epiphyseal stippling-osteoclastic hyperplasia syndrome
ORPHA:1952: Pacman dysplasia
ORPHA:1954: Congenital lethal erythroderma
ORPHA:1955: Spinocerebellar ataxia type 34
ORPHA:1955: Erythrokeratodermia with ataxia
ORPHA:1955: SCA34
ORPHA:1955: Spinocerebellar ataxia and erythrokeratodermia
ORPHA:1957: Esthesioneuroblastoma
ORPHA:1957: Olfactory neuroblastoma
ORPHA:1959: Evans syndrome
ORPHA:1959: Autoimmune hemolytic anemia and autoimmune thrombocytopenia
ORPHA:1959: Immune pancytopenia
ORPHA:1962: Exostoses-anetodermia-brachydactyly type E syndrome
ORPHA:1964: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
ORPHA:1964: Char-Douglas-Dungan syndrome
ORPHA:1968: Flat face-microstomia-ear anomaly syndrome
ORPHA:1968: Blepharophimosis-telecanthus-microstomia syndrome
ORPHA:1968: Simosa craniofacial syndrome
ORPHA:1968: Simosa-Penchaszadeh-Bustos syndrome
ORPHA:1969: Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
ORPHA:1969: FACES syndrome
ORPHA:1969: Friedman-Goodman syndrome
ORPHA:1970: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
ORPHA:1972: Lethal faciocardiomelic dysplasia
ORPHA:1973: Faciocardiorenal syndrome
ORPHA:1973: Eastman-Bixler syndrome
ORPHA:1974: Autosomal recessive faciodigitogenital syndrome
ORPHA:1974: Aarskog-like syndrome
ORPHA:1974: Facio-digito-genital syndrome, Kuwait type
ORPHA:1974: Teebi-Naguib-Alawadi syndrome
ORPHA:1979: Lipodystrophy due to peptidic growth factors deficiency
ORPHA:1979: Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
ORPHA:1979: Hoepffner-Dreyer-Reimers syndrome
ORPHA:1979: Werner-like syndrome due to combined growth factor deficiency
ORPHA:198: Occipital horn syndrome
ORPHA:1980: Bilateral striopallidodentate calcinosis
ORPHA:1980: BSPDC
ORPHA:1980: Cerebrovascular ferrocalcinosis
ORPHA:1980: Idiopathic basal ganglia calcification
ORPHA:1980: PFBC
ORPHA:1980: Primary familial brain calcification
ORPHA:1986: Gollop-Wolfgang complex
ORPHA:1986: Bifid femur-monodactylous ectrodactyly syndrome
ORPHA:1987: Isolated femoral agenesis/hypoplasia
ORPHA:1987: CFD
ORPHA:1987: CSF
ORPHA:1987: Isolated congenital femoral deficiency
ORPHA:1987: Isolated congenital short femur
ORPHA:1987: Isolated femoral intercalary meromelia
ORPHA:1988: Femoral-facial syndrome
ORPHA:1988: FFS
ORPHA:1988: FHUFS
ORPHA:1988: Femoral hypoplasia-unusual facies syndrome
ORPHA:199: Cornelia de Lange syndrome
ORPHA:199: Brachmann-de Lange syndrome
ORPHA:1991: Cleft lip with or without cleft palate
ORPHA:1991: Tessier cleft number 1,2
ORPHA:199241: Pulmonary capillary hemangiomatosis
ORPHA:199244: Nelson syndrome
ORPHA:199247: Corticosteroid-binding globulin deficiency
ORPHA:199247: Transcortin deficiency
ORPHA:199251: Ledderhose disease
ORPHA:199251: Plantar fibromatosis
ORPHA:199257: Superficial fibromatosis
ORPHA:199260: Calcifying aponeurotic fibroma
ORPHA:199260: Juvenile aponeurotic fibromatosis
ORPHA:199260: Keasby tumor
ORPHA:199267: Infantile digital fibromatosis
ORPHA:199267: Inclusion body fibromatosis
ORPHA:199267: Recurring digital fibrous tumor of childhood
ORPHA:199267: Reye tumor
ORPHA:199276: Familial multiple lipomatosis
ORPHA:199279: Familial angiolipomatosis
ORPHA:199282: Harlequin syndrome
ORPHA:199282: Progressive isolated segmental anhidrosis
ORPHA:199285: Hereditary hypercarotenemia and vitamin A deficiency
ORPHA:199293: Congenital microgastria
ORPHA:199296: Congenital isolated ACTH deficiency
ORPHA:199299: Late-onset isolated ACTH deficiency
ORPHA:1993: Pai syndrome
ORPHA:1993: Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
ORPHA:199302: Isolated cleft lip
ORPHA:199306: Cleft lip/palate
ORPHA:199306: Alveolar cleft lip and palate
ORPHA:199306: Cleft lip and palate
ORPHA:199306: Cleft lip-alveolus-palate syndrome
ORPHA:199306: FLP
ORPHA:199310: Tetragametic chimerism syndrome
ORPHA:199310: 46,XX/46,XY chimerism
ORPHA:199315: Familial clubfoot with or without associated lower limb anomalies
ORPHA:199318: 15q13.3 microdeletion syndrome
ORPHA:199318: Del(15)(q13.3)
ORPHA:199318: Monosomy 15q13.3
ORPHA:199323: Endophthalmitis
ORPHA:199326: Isolated autosomal dominant hypomagnesemia, Glaudemans type
ORPHA:199329: Congenital myopathy, Paradas type
ORPHA:199332: Endocrine-cerebro-osteodysplasia syndrome
ORPHA:199332: ECO syndrome
ORPHA:199337: Pancreatic insufficiency-anemia-hyperostosis syndrome
ORPHA:199340: Muscular dystrophy, Selcen type
ORPHA:199343: EAST syndrome
ORPHA:199343: Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
ORPHA:199343: Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
ORPHA:199343: SeSAME syndrome
ORPHA:199343: Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
ORPHA:199343: Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
ORPHA:199348: Thiamine-responsive encephalopathy
ORPHA:199351: Adult-onset dystonia-parkinsonism
ORPHA:199351: Dystonia-parkinsonism, Paisan-Ruiz type
ORPHA:199351: PARK14
ORPHA:199351: PLA2G6-related dystonia-parkinsonism
ORPHA:199354: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
ORPHA:199354: CARASIL
ORPHA:199354: Maeda syndrome
ORPHA:1995: Cleft lip-retinopathy syndrome
ORPHA:1995: Ausems-Wittebol Post-Hennekam syndrome
ORPHA:1995: Cleft lip-cone rod dystrophy syndrome
ORPHA:1995: Cleft lip-progressive retinopathy syndrome
ORPHA:199627: Atypical autism
ORPHA:199630: Isolated cerebellar vermis hypoplasia
ORPHA:199633: Non-syndromic cerebral malformation
ORPHA:199633: Non-syndromic brain malformation
ORPHA:199639: Syndrome with corpus callosum agenesis/dysgenesis as a major feature
ORPHA:199642: Isolated congenital microcephaly
ORPHA:199647: Isolated encephalocele
ORPHA:1997: Blepharo-cheilo-odontic syndrome
ORPHA:1997: BCD syndrome
ORPHA:1997: Blepharocheilodontic syndrome
ORPHA:1997: Clefting-ectropion-conical teeth syndrome
ORPHA:1997: Ectropion inferior-cleft lip and/or palate syndrome
ORPHA:1997: Elschnig syndrome
ORPHA:1997: Lagophthalmia-cleft lip and palate syndrome
ORPHA:20: 3-hydroxy-3-methylglutaric aciduria
ORPHA:20: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
ORPHA:20: HMG-CoA lyase deficiency
ORPHA:20: Hydroxymethylglutaric aciduria
ORPHA:200: Isolated corpus callosum agenesis
ORPHA:200037: Paroxysmal dystonia
ORPHA:2001: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
ORPHA:2001: McPherson-Clemens syndrome
ORPHA:2003: Cleft lip/palate-deafness-sacral lipoma syndrome
ORPHA:2003: Cleft lip/palate-hearing loss-sacral lipoma syndrome
ORPHA:2003: Lowry-Yong syndrome
ORPHA:2004: Laryngotracheoesophageal cleft
ORPHA:2004: LC
ORPHA:2004: LTEC
ORPHA:2004: Laryngo-tracheo-esophageal cleft
ORPHA:2004: Laryngo-tracheo-esophageal diastema
ORPHA:200418: Immunodeficiency with factor I anomaly
ORPHA:200418: Complete factor I deficiency
ORPHA:200421: Immunodeficiency with factor H anomaly
ORPHA:2006: Median cleft lip/mandible
ORPHA:2006: Median cleft lower facial stage
ORPHA:2006: Median cleft of the lower lip and mandible
ORPHA:2006: Median mandibular cleft
ORPHA:2007: Alar cartilages hypoplasia-coloboma-telecanthus syndrome
ORPHA:2008: Acrocardiofacial syndrome
ORPHA:2008: ACFS
ORPHA:2008: CCGE syndrome
ORPHA:2008: Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
ORPHA:201: Cowden syndrome
ORPHA:201: Cowden disease
ORPHA:201: Multiple hamartoma syndrome
ORPHA:2010: Cleft palate-stapes fixation-oligodontia syndrome
ORPHA:2013: Cleft palate-large ears-small head syndrome
ORPHA:2013: Say-Barber-Hobbs syndrome
ORPHA:2014: Cleft palate
ORPHA:2015: Cleft palate-short stature-vertebral anomalies syndrome
ORPHA:2015: Mathieu-De Broca-Bony syndrome
ORPHA:2016: Cleft palate-lateral synechia syndrome
ORPHA:2016: CPLS syndrome
ORPHA:2017: Sternal cleft
ORPHA:2017: Cleft sternum
ORPHA:2017: Sternum bifidum
ORPHA:2019: Femur-fibula-ulna complex
ORPHA:2019: FFU complex
ORPHA:2019: Femur-fibula-ulna dysostosis
ORPHA:2019: Femur-fibula-ulna syndrome
ORPHA:202: Crandall syndrome
ORPHA:202: Alopecia-deafness-hypogonadism syndrome
ORPHA:202: Alopecia-hearing loss-hypogonadism syndrome
ORPHA:202: Alopecia-sensorineural deafness-hypogonadism syndrome
ORPHA:202: Alopecia-sensorineural hearing loss-hypogonadism syndrome
ORPHA:2020: Congenital fiber-type disproportion myopathy
ORPHA:2020: CFTDM
ORPHA:2021: Fibrochondrogenesis
ORPHA:2022: Endocardial fibroelastosis
ORPHA:2022: Endomyocardial fibroelastosis
ORPHA:2023: Undifferentiated pleomorphic sarcoma
ORPHA:2023: UPS
ORPHA:2024: Hereditary gingival fibromatosis
ORPHA:2024: Autosomal dominant gingival fibromatosis
ORPHA:2024: Autosomal dominant gingival hyperplasia
ORPHA:2024: Hereditary gingival hyperplasia
ORPHA:2025: Gingival fibromatosis-facial dysmorphism syndrome