TaoMedAI/RareMedData huggingface dataset:
ORPHA:10: 48,XXYY syndrome
ORPHA:100: Ataxia-telangiectasia
ORPHA:100: Louis-Bar syndrome
ORPHA:1000: Ocular albinism with late-onset sensorineural deafness
ORPHA:1000: Ocular albinism with late-onset sensorineural hearing loss
ORPHA:100000: Reticular perineurioma
ORPHA:100001: Sclerosing perineurioma
ORPHA:100002: Extraneural perineurioma
ORPHA:100002: Soft tissue perineurioma
ORPHA:100003: Intraneural perineurioma
ORPHA:100006: ABeta amyloidosis, Dutch type
ORPHA:100006: ABetaE22Q amyloidosis
ORPHA:100006: HCHWA, Dutch type
ORPHA:100006: HCHWA-D
ORPHA:100006: Hereditary cerebral hemorrhage with amyloidosis, Dutch type
ORPHA:100008: ACys amyloidosis
ORPHA:100008: CST3-related amyloidosis
ORPHA:100008: Cystatin amyloidosis
ORPHA:100008: HCHWA, Icelandic type
ORPHA:100008: Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
ORPHA:100008: Hereditary cystatin C amyloid angiopathy
ORPHA:100011: Lissencephaly with cerebellar hypoplasia type A
ORPHA:100012: Lissencephaly with cerebellar hypoplasia type B
ORPHA:100013: Lissencephaly with cerebellar hypoplasia type C
ORPHA:100014: Lissencephaly with cerebellar hypoplasia type D
ORPHA:100015: Lissencephaly with cerebellar hypoplasia type E
ORPHA:100016: Lissencephaly with cerebellar hypoplasia type F
ORPHA:100019: Myelodysplastic neoplasm with increased blasts type 1
ORPHA:100019: MDS-IB1
ORPHA:100019: RAEB-1
ORPHA:100019: Refractory anemia with excess blasts type 1
ORPHA:100020: Myelodysplastic neoplasm with increased blasts type 2
ORPHA:100020: MDS-IB2
ORPHA:100020: RAEB-2
ORPHA:100020: Refractory anemia with excess blasts type 2
ORPHA:100021: Primary plasmacytoma of the bone
ORPHA:100022: Extramedullary soft tissue plasmacytoma
ORPHA:100024: Mu-heavy chain disease
ORPHA:100024: mu-HCD
ORPHA:100025: Alpha-heavy chain disease
ORPHA:100025: Alpha-HCD
ORPHA:100025: IPSID
ORPHA:100025: Immunoproliferative small intestinal disease
ORPHA:100025: Mediterranean lymphoma
ORPHA:100026: Gamma-heavy chain disease
ORPHA:100026: Franklin disease
ORPHA:100026: Gamma-HCD
ORPHA:100031: Hypoplastic amelogenesis imperfecta
ORPHA:100031: Amelogenesis imperfecta type 1
ORPHA:100032: Hypocalcified amelogenesis imperfecta
ORPHA:100032: Amelogenesis imperfecta type 3
ORPHA:100033: Hypomaturation amelogenesis imperfecta
ORPHA:100033: Amelogenesis imperfecta type 2
ORPHA:100034: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
ORPHA:100034: Amelogenesis imperfecta type 4
ORPHA:100035: Solitary necrotic nodule of the liver
ORPHA:100035: Hepatic solitary necrotic nodule
ORPHA:100043: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
ORPHA:100043: CMTDIA
ORPHA:100044: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
ORPHA:100044: CMTDIB
ORPHA:100045: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
ORPHA:100045: CMTDIC
ORPHA:100046: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
ORPHA:100046: CMTDID
ORPHA:100047: Esophageal duplication cyst
ORPHA:100048: Tubular duplication of the esophagus
ORPHA:100049: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
ORPHA:100049: Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
ORPHA:100050: Hereditary angioedema type 1
ORPHA:100050: HAE 1
ORPHA:100050: HAE-I
ORPHA:100050: Hereditary angioneurotic edema type 1
ORPHA:100051: Hereditary angioedema type 2
ORPHA:100051: HAE 2
ORPHA:100051: HAE-II
ORPHA:100051: Hereditary angioneurotic edema type 2
ORPHA:100054: F12-related hereditary angioedema with normal C1Inh
ORPHA:100054: F12-related HAE with normal C1 inhibitor
ORPHA:100054: HAE 3
ORPHA:100054: HAE-III
ORPHA:100054: Hereditary angioedema type 3
ORPHA:100054: Hereditary angioneurotic edema type 3
ORPHA:100054: Inherited estrogen-associated angioedema
ORPHA:100054: Inherited estrogen-associated angioneurotic edema
ORPHA:100054: Inherited estrogen-dependent angioedema
ORPHA:100054: Inherited estrogen-dependent angioneurotic edema
ORPHA:100055: Acquired angioedema type 2
ORPHA:100055: AAE 2
ORPHA:100055: AAE II
ORPHA:100055: Acquired angioneurotic edema type 2
ORPHA:100056: Acquired angioedema type 1
ORPHA:100056: Acquired angioneurotic edema type 1
ORPHA:100057: Renin-angiotensin-aldosterone system-blocker-induced angioedema
ORPHA:100057: ACE inhibitor-related acquired angioedema
ORPHA:100057: ACEI-related acquired angioedema
ORPHA:100057: Acquired angioedema with normal C1 inhibitor
ORPHA:100057: Acquired angioedema with normal C1INH
ORPHA:100057: RAAS-blocker-induced angioedema
ORPHA:100057: RAAS-blocker-induced angioneurotic edema
ORPHA:100057: RAE
ORPHA:100057: Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
ORPHA:100067: Waterhouse-Friderichsen syndrome
ORPHA:100069: Semantic dementia
ORPHA:100069: Semantic primary progressive aphasia
ORPHA:100069: Semantic variant PPA
ORPHA:100070: Progressive non-fluent aphasia
ORPHA:100070: Agramatic variant of PPA
ORPHA:100070: Agramatic variant of primary progressive aphasia
ORPHA:100070: Non-fluent variant PPA
ORPHA:100071: Mosaic trisomy 3 syndrome
ORPHA:100071: Mosaic trisomy chromosome 3
ORPHA:100071: Trisomy 3 mosaicism
ORPHA:100073: Neurogenic thoracic outlet syndrome
ORPHA:100073: NTOS
ORPHA:100073: Neurogenic TOS
ORPHA:100073: Neurogenic cervical rib syndrome
ORPHA:100073: Neurogenic costoclavicular syndrome
ORPHA:100073: Neurogenic thoracic outlet compression syndrome
ORPHA:100075: Neuroendocrine tumor of stomach
ORPHA:100075: GNET
ORPHA:100075: Gastric NET
ORPHA:100075: Gastric neuroendocrine tumor
ORPHA:100075: NET of stomach
ORPHA:100076: Duodenal neuroendocrine tumor
ORPHA:100077: Jejunal neuroendocrine tumor
ORPHA:100077: Jejunal neuroendocrine neoplasm
ORPHA:100078: Ileal neuroendocrine tumor
ORPHA:100078: Ileal neuroendocrine neoplasm
ORPHA:100079: Neuroendocrine neoplasm of appendix
ORPHA:100079: Appendiceal NEN
ORPHA:100079: Appendiceal neuroendocrine neoplasm
ORPHA:100079: NEN of appendix
ORPHA:100080: Neuroendocrine tumor of the colon
ORPHA:100080: Colonic NET
ORPHA:100080: NET of the colon
ORPHA:100080: Neuroendocrine neoplasm of the colon
ORPHA:100081: Neuroendocrine tumor of the rectum
ORPHA:100081: NET of the rectum
ORPHA:100081: Rectal NET
ORPHA:100081: Rectal neuroendocrine tumor
ORPHA:100082: Neuroendocrine tumor of anal canal
ORPHA:100082: NET of anal canal
ORPHA:100083: Laryngeal neuroendocrine tumor
ORPHA:100084: Middle ear neuroendocrine tumor
ORPHA:100085: Primary hepatic neuroendocrine carcinoma
ORPHA:100086: Gallbladder neuroendocrine tumor
ORPHA:100087: Rare thyroid tumor
ORPHA:100088: Rare thyroid carcinoma
ORPHA:100090: Rare parathyroid tumor
ORPHA:100091: Adrenal/paraganglial tumor
ORPHA:100092: Gastroenteropancreatic neuroendocrine neoplasm
ORPHA:100092: GEP-NEN
ORPHA:100093: Carcinoid syndrome
ORPHA:100093: Malignant carcinoid syndrome
ORPHA:100094: Multiple polyglandular tumor
ORPHA:1001: 2q37 microdeletion syndrome
ORPHA:1001: Albright hereditary osteodystrophy type 3
ORPHA:1001: Albright hereditary osteodystrophy-like syndrome
ORPHA:1001: Brachydactyly-intellectual disability syndrome
ORPHA:1001: Del(2)(q37)
ORPHA:1001: Deletion 2q37
ORPHA:1001: Monosomy 2q37qter
ORPHA:100100: Thymic tumor
ORPHA:100101: Neuroendocrine tumor with other location
ORPHA:1003: Scalp defects-postaxial polydactyly syndrome
ORPHA:1005: Alopecia-contractures-dwarfism-intellectual disability syndrome
ORPHA:1005: ACD-intellectual disability syndrome
ORPHA:1006: Alopecia antibody deficiency
ORPHA:1006: Ipp-Gelfand syndrome
ORPHA:1008: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
ORPHA:1008: Shokeir syndrome
ORPHA:100924: Porphyria due to ALA dehydratase deficiency
ORPHA:100924: ALAD porphyria
ORPHA:100924: Porphyria due to ALAD deficiency
ORPHA:100924: Porphyria due to delta-aminolevulinate dehydratase deficiency
ORPHA:100924: Porphyria of Doss
ORPHA:100973: FRAXE intellectual disability
ORPHA:100973: Intellectual disability associated with fragile site FRAXE
ORPHA:100974: FRAXF syndrome
ORPHA:100976: Bathing suit ichthyosis
ORPHA:100976: BSI
ORPHA:100978: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
ORPHA:100978: Benallegue-Lacete syndrome
ORPHA:100979: Autosomal dominant complex spastic paraplegia
ORPHA:100979: Autosomal dominant complex HSP
ORPHA:100979: Autosomal dominant complex SPG
ORPHA:100979: Autosomal dominant complicated HSP
ORPHA:100979: Autosomal dominant complicated SPG
ORPHA:100979: Autosomal dominant complicated spastic paraplegia
ORPHA:100980: Autosomal dominant pure spastic paraplegia
ORPHA:100980: Autosomal dominant pure HSP
ORPHA:100980: Autosomal dominant pure SPG
ORPHA:100980: Autosomal dominant uncomplicated HSP
ORPHA:100980: Autosomal dominant uncomplicated SPG
ORPHA:100980: Autosomal dominant uncomplicated spastic paraplegia
ORPHA:100981: Autosomal recessive complex spastic paraplegia
ORPHA:100981: Autosomal recessive complex HSP
ORPHA:100981: Autosomal recessive complex SPG
ORPHA:100981: Autosomal recessive complicated HSP
ORPHA:100981: Autosomal recessive complicated SPG
ORPHA:100981: Autosomal recessive complicated spastic paraplegia
ORPHA:100982: Autosomal recessive pure spastic paraplegia
ORPHA:100982: Autosomal recessive pure HSP
ORPHA:100982: Autosomal recessive pure SPG
ORPHA:100982: Autosomal recessive uncomplicated HSP
ORPHA:100982: Autosomal recessive uncomplicated SPG
ORPHA:100982: Autosomal recessive uncomplicated spastic paraplegia
ORPHA:100984: Autosomal dominant spastic paraplegia type 3
ORPHA:100984: Autosomal dominant spastic paraplegia type 3A
ORPHA:100984: SPG3A
ORPHA:100984: Strümpell disease
ORPHA:100985: Autosomal dominant spastic paraplegia type 4
ORPHA:100985: SPG4
ORPHA:100986: Autosomal recessive spastic paraplegia type 5A
ORPHA:100986: SPG5A
ORPHA:100988: Autosomal dominant spastic paraplegia type 6
ORPHA:100988: SPG6
ORPHA:100989: Autosomal dominant spastic paraplegia type 8
ORPHA:100989: SPG8
ORPHA:100991: Autosomal dominant spastic paraplegia type 10
ORPHA:100991: SPG10
ORPHA:100993: Autosomal dominant spastic paraplegia type 12
ORPHA:100993: SPG12
ORPHA:100994: Autosomal dominant spastic paraplegia type 13
ORPHA:100994: SPG13
ORPHA:100995: Autosomal recessive spastic paraplegia type 14
ORPHA:100995: SPG14
ORPHA:100996: Autosomal recessive spastic paraplegia type 15
ORPHA:100996: Hereditary spastic paraparesis type 15
ORPHA:100996: Kjellin syndrome
ORPHA:100996: SPG15
ORPHA:100996: Spastic paraplegia-retinal degeneration syndrome
ORPHA:100997: X-linked spastic paraplegia type 16
ORPHA:100997: SPG16
ORPHA:100998: Autosomal dominant spastic paraplegia type 17
ORPHA:100998: SPG17
ORPHA:100998: Silver syndrome
ORPHA:100998: Spastic paraplegia-amyotrophy of hands and feet
ORPHA:100999: Autosomal dominant spastic paraplegia type 19
ORPHA:100999: SPG19
ORPHA:101: Dentatorubral pallidoluysian atrophy
ORPHA:101: DRPLA
ORPHA:101: Dentatorubropallidoluysian atrophy
ORPHA:101: Naito-Oyanagi disease
ORPHA:1010: Autosomal dominant palmoplantar keratoderma and congenital alopecia
ORPHA:1010: Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
ORPHA:1010: PPK-CA, Stevanovic type
ORPHA:1010: Palmoplantar keratoderma and congenital alopecia, Stevanovic type
ORPHA:101000: Autosomal recessive spastic paraplegia type 20
ORPHA:101000: Childhood-onset spastic paraparesis-distal muscle wasting syndrome
ORPHA:101000: SPG20
ORPHA:101000: Troyer syndrome
ORPHA:101001: Autosomal recessive spastic paraplegia type 21
ORPHA:101001: Mast syndrome
ORPHA:101001: SPG21
ORPHA:101003: Autosomal recessive spastic paraplegia type 23
ORPHA:101003: Lison syndrome
ORPHA:101003: SPG23
ORPHA:101003: Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
ORPHA:101004: Autosomal recessive spastic paraplegia type 24
ORPHA:101004: SPG24
ORPHA:101005: Autosomal recessive spastic paraplegia type 25
ORPHA:101005: Autosomal recessive spastic paraplegia-disc herniation syndrome
ORPHA:101005: SPG25
ORPHA:101006: Autosomal recessive spastic paraplegia type 26
ORPHA:101006: GM2 synthase deficiency
ORPHA:101006: SPG26
ORPHA:101007: Autosomal recessive spastic paraplegia type 27
ORPHA:101007: SPG27
ORPHA:101008: Autosomal recessive spastic paraplegia type 28
ORPHA:101008: SPG28
ORPHA:101009: Autosomal dominant spastic paraplegia type 29
ORPHA:101009: SPG29
ORPHA:101010: Autosomal spastic paraplegia type 30
ORPHA:101010: SPG30
ORPHA:101011: Autosomal dominant spastic paraplegia type 31
ORPHA:101011: SPG31
ORPHA:101016: Romano-Ward syndrome
ORPHA:101016: Romano-Ward long QT syndrome
ORPHA:101023: Cleft hard palate
ORPHA:101028: Transaldolase deficiency
ORPHA:101028: TALDO deficiency
ORPHA:101029: Sub-cortical nodular heterotopia
ORPHA:101030: Subependymal nodular heterotopia
ORPHA:101039: Female restricted epilepsy with intellectual disability
ORPHA:101039: EFMR
ORPHA:101039: Juberg-Hellman syndrome
ORPHA:101041: Familial hypofibrinogenemia
ORPHA:101043: Congenital aortic valve dysplasia
ORPHA:101046: Autosomal dominant epilepsy with auditory features
ORPHA:101046: ADEAF
ORPHA:101046: ADLTE
ORPHA:101046: ADPEAF
ORPHA:101046: Autosomal dominant lateral temporal lobe epilepsy
ORPHA:101046: Partial epilepsy with auditory aura
ORPHA:101046: Partial epilepsy with auditory features
ORPHA:101049: Familial hypocalciuric hypercalcemia type 2
ORPHA:101049: FHH type 2
ORPHA:101050: Familial hypocalciuric hypercalcemia type 3
ORPHA:101050: FHH type 3
ORPHA:101063: Situs inversus totalis
ORPHA:101063: Complete situs inversus
ORPHA:101063: Complete situs inversus viscerum
ORPHA:101063: Situs inversus
ORPHA:101068: Congenital stromal corneal dystrophy
ORPHA:101068: CSCD
ORPHA:101068: Congenital hereditary stromal dystrophy
ORPHA:101068: Witschel dystrophy
ORPHA:101070: Bilateral frontoparietal polymicrogyria
ORPHA:101071: Unilateral hemispheric polymicrogyria
ORPHA:101075: X-linked Charcot-Marie-Tooth disease type 1
ORPHA:101075: CMT1X
ORPHA:101075: CMTX1
ORPHA:101076: X-linked Charcot-Marie-Tooth disease type 2
ORPHA:101076: CMTX2
ORPHA:101077: X-linked Charcot-Marie-Tooth disease type 3
ORPHA:101077: CMT3X
ORPHA:101077: CMTX3
ORPHA:101078: X-linked Charcot-Marie-Tooth disease type 4
ORPHA:101078: CMT4X
ORPHA:101078: CMTX4
ORPHA:101078: Cowchock syndrome
ORPHA:101081: Charcot-Marie-Tooth disease type 1A
ORPHA:101081: CMT1A
ORPHA:101081: Microduplication 17p12
ORPHA:101082: Charcot-Marie-Tooth disease type 1B
ORPHA:101082: CMT1B
ORPHA:101083: Charcot-Marie-Tooth disease type 1C
ORPHA:101083: CMT1C
ORPHA:101084: Charcot-Marie-Tooth disease type 1D
ORPHA:101084: CMT1D
ORPHA:101085: Charcot-Marie-Tooth disease type 1F
ORPHA:101085: CMT1F
ORPHA:101088: X-linked hyper-IgM syndrome
ORPHA:101088: HIGM1
ORPHA:101088: Hyper-IgM syndrome due to CD40 ligand deficiency
ORPHA:101088: Hyper-IgM syndrome due to CD40L deficiency
ORPHA:101088: Hyper-IgM syndrome type 1
ORPHA:101088: XHIGM
ORPHA:101089: Hyper-IgM syndrome type 2
ORPHA:101089: AID deficiency
ORPHA:101089: Activation-induced cytidine deaminase deficiency
ORPHA:101089: HIGM2
ORPHA:101090: Hyper-IgM syndrome type 3
ORPHA:101090: HIGM3
ORPHA:101090: Hyper-IgM syndrome due to CD40 deficiency
ORPHA:101091: Hyper-IgM syndrome type 4
ORPHA:101091: HIGM4
ORPHA:101092: Hyper-IgM syndrome type 5
ORPHA:101092: HIGM5
ORPHA:101092: Hyper-IgM syndrome due to UNG deficiency
ORPHA:101092: Hyper-IgM syndrome due to uracil N-glycosylase
ORPHA:101097: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ORPHA:101097: ARCMT2K
ORPHA:101097: Autosomal recessive axonal CMT4C4
ORPHA:101097: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
ORPHA:101101: Charcot-Marie-Tooth disease type 2B2
ORPHA:101101: AR-CMT2B2
ORPHA:101101: Autosomal recessive axonal CMT4C3
ORPHA:101101: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
ORPHA:101102: Charcot-Marie-Tooth disease type 2H
ORPHA:101102: AR-CMT2C
ORPHA:101102: Autosomal recessive axonal CMT4C2
ORPHA:101102: Axonal Charcot-Marie-Tooth disease with pyramidal involvement
ORPHA:101102: CMT2H
ORPHA:101104: Marin-Amat syndrome
ORPHA:101108: Spinocerebellar ataxia type 23
ORPHA:101108: SCA23
ORPHA:101109: Spinocerebellar ataxia type 28
ORPHA:101109: SCA28
ORPHA:101110: Spinocerebellar ataxia type 20
ORPHA:101110: SCA20
ORPHA:101111: Spinocerebellar ataxia type 25
ORPHA:101111: SCA25
ORPHA:101112: Spinocerebellar ataxia type 26
ORPHA:101112: SCA26
ORPHA:101150: Autosomal recessive dopa-responsive dystonia
ORPHA:101150: Autosomal recessive Segawa syndrome
ORPHA:101150: DYT5b
ORPHA:101150: Tyrosine hydroxylase deficiency
ORPHA:101150: Tyrosine hydroxylase-deficient dopa-responsive dystonia
ORPHA:101206: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
ORPHA:101206: APV/ADA, Fallot type
ORPHA:101206: Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
ORPHA:101206: PVA/ADA, Fallot type
ORPHA:101330: Porphyria cutanea tarda
ORPHA:101330: PCT
ORPHA:101334: African tick typhus
ORPHA:101351: Familial isolated congenital asplenia
ORPHA:1014: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
ORPHA:1014: Devriendt-Vandenberghe-Fryns syndrome
ORPHA:101433: Rare urogenital disease
ORPHA:101435: Rare genetic eye disease
ORPHA:101435: Rare genetic ophthalmologic disease
ORPHA:101685: Rare non-syndromic intellectual disability
ORPHA:101685: Rare NSID
ORPHA:1018: X-linked Alport syndrome-diffuse leiomyomatosis
ORPHA:1018: Xq22.3 microdeletion syndrome
ORPHA:101932: Anomaly of the mitral subvalvular apparatus
ORPHA:101934: Genetic cardiac rhythm disease
ORPHA:101936: Rare gastroesophageal disease
ORPHA:101937: Rare pancreatic disease
ORPHA:101938: Rare vascular liver disease
ORPHA:101939: Rare parenchymal liver disease
ORPHA:101940: Rare metabolic liver disease
ORPHA:101941: Rare biliary tract disease
ORPHA:101943: Rare hepatic and biliary tract tumor
ORPHA:101944: Rare pulmonary disease
ORPHA:101945: Rare bronchopulmonary and pleural cavity tumors
ORPHA:101950: Rare eye tumor
ORPHA:101952: Rare diabetes mellitus
ORPHA:101953: Rare dyslipidemia
ORPHA:101954: Rare adrenal disease
ORPHA:101955: Rare thyroid disease
ORPHA:101956: Polyendocrinopathy
ORPHA:101957: Pituitary deficiency
ORPHA:101958: Primary adrenal insufficiency
ORPHA:101959: Chronic primary adrenal insufficiency
ORPHA:101959: CPAI
ORPHA:101959: Chronic adrenocorticoid insufficiency
ORPHA:101960: Genetic chronic primary adrenal insufficiency
ORPHA:101963: Acquired chronic primary adrenal insufficiency
ORPHA:101972: Combined T and B cell immunodeficiency
ORPHA:101977: Immunodeficiency predominantly affecting antibody production
ORPHA:101985: Quantitative and/or qualitative congenital phagocyte defect
ORPHA:101987: Congenital neutropenia
ORPHA:101987: Constitutional neutropenia
ORPHA:101988: Primary immunodeficiency due to a defect in innate immunity
ORPHA:101992: Immunodeficiency due to a complement cascade protein anomaly
ORPHA:101995: Periodic fever syndrome
ORPHA:101997: Primary immunodeficiency
ORPHA:101998: Rare epilepsy
ORPHA:102: Multiple system atrophy
ORPHA:102: MSA
ORPHA:102: Multisystem atrophy
ORPHA:1020: Early-onset autosomal dominant Alzheimer disease
ORPHA:1020: EOFAD
ORPHA:1020: Early-onset familial autosomal dominant Alzheimer disease
ORPHA:1020: Familial Alzheimer disease
ORPHA:102000: Medullar disease
ORPHA:102002: Rare ataxia
ORPHA:102003: Rare movement disorder
ORPHA:102005: Brain inflammatory disease
ORPHA:102006: Neurovascular malformation
ORPHA:102009: Classic lissencephaly
ORPHA:102009: Lissencephaly type 1
ORPHA:102010: Other syndrome with lissencephaly as a major feature
ORPHA:102011: Lissencephaly type 3
ORPHA:102012: Pure hereditary spastic paraplegia
ORPHA:102012: Pure HSP
ORPHA:102012: Pure SPG
ORPHA:102012: Pure familial spastic paraplegia
ORPHA:102012: Uncomplicated HSP
ORPHA:102012: Uncomplicated SPG
ORPHA:102012: Uncomplicated familial spastic paraplegia
ORPHA:102012: Uncomplicated hereditary spastic paraplegia
ORPHA:102013: Complex hereditary spastic paraplegia
ORPHA:102013: Complex HSP
ORPHA:102013: Complex SPG
ORPHA:102013: Complex familial spastic paraplegia
ORPHA:102013: Complicated HSP
ORPHA:102013: Complicated SPG
ORPHA:102013: Complicated familial spastic paraplegia
ORPHA:102013: Complicated hereditary spastic paraplegia
ORPHA:102014: Autosomal dominant limb-girdle muscular dystrophy
ORPHA:102015: Autosomal recessive limb-girdle muscular dystrophy
ORPHA:102020: Autosomal monosomy syndrome
ORPHA:102020: Autosomal deletion
ORPHA:102021: Rickettsial disease
ORPHA:102021: Rickettsiae disease
ORPHA:102022: Spotted fever rickettsiosis
ORPHA:102022: Spotted fever rickettsiae disease
ORPHA:102023: Typhus-group rickettsiosis
ORPHA:102023: Typhus-group rickettsiae disease
ORPHA:102024: Human herpesvirus 8-related disorder
ORPHA:102024: HHV-8-related disorder
ORPHA:1021: Amaurosis-hypertrichosis syndrome
ORPHA:102237: Unexplained periodic fever syndrome
ORPHA:102283: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
ORPHA:102283: MCA/MR
ORPHA:102283: Multiple congenital anomalies-intellectual disability with or without dysmorphism
ORPHA:102285: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
ORPHA:102285: MCA without intellectual disability
ORPHA:102285: Multiple congenital anomalies without intellectual disability with or without dysmorphism
ORPHA:1023: Congenital generalized hypertrichosis, Ambras type
ORPHA:1023: Ambras syndrome
ORPHA:102369: Rare syndromic intellectual disability
ORPHA:102379: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
ORPHA:102379: AML and myelodysplastic syndromes related to alkylating agent
ORPHA:102381: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
ORPHA:102381: AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
ORPHA:102724: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
ORPHA:102724: AML with t(8;21)(q22;q22) translocation
ORPHA:1028: Amelo-onycho-hypohidrotic syndrome
ORPHA:1028: Ameloonychohypohidrotic ectodermal dysplasia
ORPHA:1028: Ameloonychohypohidrotic syndrome
ORPHA:1031: Enamel-renal syndrome
ORPHA:1031: Amelogenesis imperfecta-nephrocalcinosis syndrome
ORPHA:1035: Beta-mercaptolactate cysteine disulfiduria
ORPHA:1035: 3-mercaptopyruvate sulfurtransferase deficiency
ORPHA:1035: Ampola syndrome
ORPHA:1035: MCDU
ORPHA:1037: Arthrogryposis multiplex congenita
ORPHA:1037: AMC
ORPHA:1037: Multiple congenital arthrogryposis
ORPHA:103907: Chronic diarrhea due to glucoamylase deficiency
ORPHA:103907: Maltase-glucoamylase deficiency
ORPHA:103908: Congenital sodium diarrhea
ORPHA:103908: CSD
ORPHA:103908: NHE3 deficiency
ORPHA:103908: Na-H exchanger 3 deficiency
ORPHA:103908: Non-syndromic congenital sodium diarrhea
ORPHA:103908: Sodium/proton exchanger-3 deficiency
ORPHA:103909: Trehalase deficiency
ORPHA:103909: Isolated trehalose intolerance
ORPHA:103910: Congenital enterocyte heparan sulfate deficiency
ORPHA:103918: Tropical pancreatitis
ORPHA:103918: TCP
ORPHA:103918: Tropical calcific chronic pancreatitis
ORPHA:103919: Autoimmune pancreatitis
ORPHA:103919: AIP
ORPHA:103920: Undetermined colitis
ORPHA:104: Leber hereditary optic neuropathy
ORPHA:104: LHON
ORPHA:104: Leber optic atrophy
ORPHA:1040: Metaphyseal anadysplasia
ORPHA:1040: Maroteaux-Verloes-Stanescu syndrome
ORPHA:1040: Regressive metaphyseal dysplasia
ORPHA:104003: Congenital intestinal transport defect
ORPHA:104004: Intestinal disease due to vitamin absorption anomaly
ORPHA:104005: Intestinal disease due to fat malabsorption
ORPHA:104006: Congenital intestinal disease due to an enzymatic defect
ORPHA:104007: Congenital enteropathy involving intestinal mucosa development
ORPHA:104008: Short bowel syndrome
ORPHA:104009: Rare disease involving intestinal motility
ORPHA:104010: Intestinal polyposis syndrome
ORPHA:104011: Rare tumor of intestine
ORPHA:104011: Rare intestinal tumor
ORPHA:104011: Rare tumor of bowel
ORPHA:104012: Rare inflammatory bowel disease
ORPHA:104013: Metabolic disease with intestinal involvement
ORPHA:104075: Adenocarcinoma of the small intestine
ORPHA:104075: Adenocarcinoma of the small bowel
ORPHA:104076: Leiomyosarcoma of small intestine
ORPHA:104077: Myopathic intestinal pseudoobstruction
ORPHA:104078: Unclassified intestinal pseudoobstruction
ORPHA:1041: Hydrops fetalis