TaoMedAI/RareMedData huggingface dataset:
ORPHA:798: SGS
ORPHA:799: Schizencephaly
ORPHA:8: 47,XYY syndrome
ORPHA:8: Double Y syndrome
ORPHA:8: Jacobs syndrome
ORPHA:8: XYY syndrome
ORPHA:8: Y disomy
ORPHA:80: Antiphospholipid syndrome
ORPHA:80: APLS
ORPHA:80: Antiphospholipid antibody syndrome
ORPHA:80: Classic APLS
ORPHA:80: Classic antiphospholipid syndrome
ORPHA:80: Hughes syndrome
ORPHA:800: Schwartz-Jampel syndrome
ORPHA:800: Aberfeld syndrome
ORPHA:800: Burton skeletal dysplasia
ORPHA:800: Burton syndrome
ORPHA:800: Catel-Hempel syndrome
ORPHA:800: Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
ORPHA:800: Myotonic chondrodystrophy
ORPHA:800: Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
ORPHA:800: Osteochondromuscular dystrophy
ORPHA:800: SJS
ORPHA:800: SJS1
ORPHA:800: Schwartz-Jampel syndrome type 1
ORPHA:800: Schwartz-Jampel-Aberfeld syndrome
ORPHA:801: Scleroderma
ORPHA:803: Amyotrophic lateral sclerosis
ORPHA:803: ALS
ORPHA:803: Charcot disease
ORPHA:803: Lou Gehrig disease
ORPHA:805: Tuberous sclerosis complex
ORPHA:805: Bourneville syndrome
ORPHA:805: Tuberous sclerosis
ORPHA:806: Scott syndrome
ORPHA:808: Seckel syndrome
ORPHA:809: Mixed connective tissue disease
ORPHA:809: MCTD
ORPHA:809: Sharp syndrome
ORPHA:81: Antisynthetase syndrome
ORPHA:81: AS syndrome
ORPHA:81: ASS
ORPHA:81: ASyS
ORPHA:81: Anti-ARS syndrome
ORPHA:81: Anti-Jo1 syndrome
ORPHA:81: Anti-aminoacyl-tRNA synthetase syndrome
ORPHA:810: Shigellosis
ORPHA:811: Shwachman-Diamond syndrome
ORPHA:811: Pancreatic insufficiency and bone marrow dysfunction
ORPHA:811: SDS
ORPHA:811: Shwachman syndrome
ORPHA:811: Shwachman-Bodian-Diamond syndrome
ORPHA:812: Sialidosis type 1
ORPHA:812: Cherry-red spot-myoclonus syndrome
ORPHA:812: Lipomucopolysaccharidosis
ORPHA:812: Normomorphic sialidosis
ORPHA:813: Silver-Russell syndrome
ORPHA:813: Silver-Russell dwarfism
ORPHA:816: Sjögren-Larsson syndrome
ORPHA:816: Fatty acid alcohol oxidoreductase deficiency
ORPHA:817: Peeling skin syndrome
ORPHA:817: Deciduous skin
ORPHA:817: Familial continuous skin peeling syndrome
ORPHA:817: Idiopathic deciduous skin
ORPHA:817: Keratosis exfoliativa congenita
ORPHA:817: PSS
ORPHA:817: Peeling skin disease
ORPHA:818: Smith-Lemli-Opitz syndrome
ORPHA:818: 7-dehydrocholesterol reductase deficiency
ORPHA:818: RSH syndrome
ORPHA:818: SLOS
ORPHA:819: Smith-Magenis syndrome
ORPHA:819: 17p11.2 microdeletion syndrome
ORPHA:82: Hereditary thrombophilia due to congenital antithrombin deficiency
ORPHA:82: Hereditary thrombophilia due to congenital antithrombin 3 deficiency
ORPHA:820: Sneddon syndrome
ORPHA:820: Ehrmann-Sneddon syndrome
ORPHA:820: Livedo racemosa-cerebrovascular accident syndrome
ORPHA:820: Livedo reticularis-cerebrovascular accident syndrome
ORPHA:821: Sotos syndrome
ORPHA:821: Cerebral gigantism
ORPHA:822: Hereditary spherocytosis
ORPHA:822: Minkowski-Chauffard disease
ORPHA:823: Spina bifida and other spinal dysraphisms
ORPHA:823: Isolated spina bifida
ORPHA:823: Isolated spinal dysraphism
ORPHA:824: Primary myelofibrosis
ORPHA:824: Agnogenic myeloid metaplasia
ORPHA:824: Idiopathic myelofibrosis
ORPHA:824: Myelofibrosis with myeloid metaplasia
ORPHA:824: Osteomyelofibrosis
ORPHA:826: Sporotrichosis
ORPHA:827: Stargardt disease
ORPHA:827: Fundus flavimaculatus
ORPHA:827: Stargardt 1
ORPHA:828: Stickler syndrome
ORPHA:828: Hereditary progressive arthroophthalmopathy
ORPHA:829: Adult-onset Still disease
ORPHA:829: AOSD
ORPHA:829: Wissler-Fanconi syndrome
ORPHA:83: Antley-Bixler syndrome
ORPHA:83001: Urogenital tract malformation
ORPHA:831: Congenital cervical spinal stenosis
ORPHA:831: Congenital narrowing of cervical spinal canal
ORPHA:831: Congenital stenosis of the cervical spine
ORPHA:832: Succinyl-CoA:3-oxoacid CoA transferase deficiency
ORPHA:832: OXCT1 deficiency
ORPHA:832: SCOT deficiency
ORPHA:832: Succinyl-CoA acetoacetate transferase deficiency
ORPHA:832: Succinyl-CoA:3-ketoacid CoA transferase deficiency
ORPHA:833: Encephalopathy due to sulfite oxidase deficiency
ORPHA:83311: Rocky Mountain spotted fever
ORPHA:83312: Rickettsialpox
ORPHA:83313: Boutonneuse fever
ORPHA:83313: Mediterranean spotted fever
ORPHA:83314: Epidemic typhus
ORPHA:83315: Murine typhus
ORPHA:83315: Endemic typhus
ORPHA:83315: Flea-borne typhus
ORPHA:83316: Pseudotyphus of California
ORPHA:83317: Scrub typhus
ORPHA:83317: Tsutsugamushi disease
ORPHA:83317: Tsutsugamushi fever
ORPHA:83330: Proximal spinal muscular atrophy type 1
ORPHA:83330: Infantile spinal muscular atrophy
ORPHA:83330: Infantile-onset spinal muscular atrophy
ORPHA:83330: SMA type 1
ORPHA:83330: SMA type I
ORPHA:83330: SMA-I
ORPHA:83330: SMA1
ORPHA:83330: Werdnig-Hoffmann disease
ORPHA:834: Free sialic acid storage disease
ORPHA:834: FSASD
ORPHA:834: Free sialic acid storage disorder
ORPHA:83418: Proximal spinal muscular atrophy type 2
ORPHA:83418: Intermediate spinal muscular atrophy
ORPHA:83418: SMA type 2
ORPHA:83418: SMA type II
ORPHA:83418: SMA-II
ORPHA:83418: SMA2
ORPHA:83419: Proximal spinal muscular atrophy type 3
ORPHA:83419: Juvenile spinal muscular atrophy
ORPHA:83419: Kugelberg-Welander disease
ORPHA:83419: SMA type 3
ORPHA:83419: SMA type III
ORPHA:83419: SMA-III
ORPHA:83419: SMA3
ORPHA:83420: Proximal spinal muscular atrophy type 4
ORPHA:83420: SMA type 4
ORPHA:83420: SMA type IV
ORPHA:83420: SMA-IV
ORPHA:83420: SMA4
ORPHA:83420: Spinal muscular atrophy, adult form
ORPHA:83450: Regional odontodysplasia
ORPHA:83450: Ghost teeth
ORPHA:83451: Florid cemento-osseous dysplasia
ORPHA:83451: Florid osseous dysplasia
ORPHA:83451: Focal cemento-osseous dysplasia
ORPHA:83452: Complex regional pain syndrome
ORPHA:83453: Vulvovaginal gingival syndrome
ORPHA:83454: Glomuvenous malformation
ORPHA:83454: Glomangiomatosis
ORPHA:83454: Hereditary multiple glomangiomas
ORPHA:83454: Multiple glomus tumors
ORPHA:83454: VMGLOM
ORPHA:83454: Venous malformations with glomus cells
ORPHA:83461: Congenital primary aphakia
ORPHA:83463: Microtia
ORPHA:83465: Narcolepsy type 2
ORPHA:83465: Narcolepsy without cataplexy
ORPHA:83467: Morvan syndrome
ORPHA:83467: Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome
ORPHA:83467: Morvan fibrillary chorea
ORPHA:83468: Solitary bone cyst
ORPHA:83468: Unicameral bone cyst
ORPHA:83469: Desmoplastic small round cell tumor
ORPHA:83469: DSRCT
ORPHA:83471: T-cell immunodeficiency with thymic aplasia
ORPHA:83471: Isolated aplasia/hypoplasia of the thymus
ORPHA:83471: Isolated congenital athymia
ORPHA:83471: Isolated congenital thymic aplasia/hypoplasia
ORPHA:83471: Isolated thymic defect due to thymic aplasia/hypoplasia
ORPHA:83471: Nezelof syndrome
ORPHA:83472: CAMOS syndrome
ORPHA:83472: Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
ORPHA:83472: SCAR5
ORPHA:83473: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
ORPHA:83473: MPPH syndrome
ORPHA:83476: West-Nile encephalitis
ORPHA:83476: West-Nile fever
ORPHA:83482: Mycoplasma encephalitis
ORPHA:83483: La Crosse encephalitis
ORPHA:83483: Californian encephalitis
ORPHA:83484: St. Louis encephalitis
ORPHA:83484: Saint Louis encephalitis
ORPHA:83593: Western equine encephalitis
ORPHA:83593: Western equine encephalomyelitis
ORPHA:83594: Eastern equine encephalitis
ORPHA:83594: Eastern equine encephalomyelitis
ORPHA:83595: Colorado tick fever
ORPHA:83595: American mountain fever
ORPHA:83595: Colorado tick encephalitis
ORPHA:83595: Colorado tick-borne disease
ORPHA:83595: Mountain fever
ORPHA:83595: Mountain tick fever
ORPHA:83597: Acute disseminated encephalomyelitis
ORPHA:83597: ADEM
ORPHA:83597: Acute disseminated encephalitis
ORPHA:83600: Encephalitis lethargica
ORPHA:83600: Von Economo encephalitis
ORPHA:83601: Steroid-responsive encephalopathy associated with autoimmune thyroiditis
ORPHA:83601: Hashimoto encephalitis
ORPHA:83601: SREAT
ORPHA:83616: Rubella panencephalitis
ORPHA:83617: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
ORPHA:83619: Macrostomia-preauricular tags-external ophthalmoplegia syndrome
ORPHA:83620: Enteric anendocrinosis
ORPHA:83620: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
ORPHA:83628: LUMBAR syndrome
ORPHA:83628: Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome
ORPHA:83628: PELVIS syndrome
ORPHA:83628: Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome
ORPHA:83628: SACRAL syndrome
ORPHA:83629: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
ORPHA:83629: H-SMD
ORPHA:83629: Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
ORPHA:83629: Leukoencephalopathy-SEMD syndrome
ORPHA:83629: Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
ORPHA:83639: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
ORPHA:83639: Congenital disorder of glycosylation due to PIGM deficiency
ORPHA:83639: PIGM-CDG
ORPHA:83642: Microcytic anemia with liver iron overload
ORPHA:838: Susac syndrome
ORPHA:838: Retinocochleocerebral vasculopathy
ORPHA:839: Congenital nephrotic syndrome, Finnish type
ORPHA:839: Finnish congenital nephrosis
ORPHA:84: Fanconi anemia
ORPHA:84: Fanconi pancytopenia
ORPHA:840: Syringocystadenoma papilliferum
ORPHA:840: Fistulous vegetative verrucous hydradenoma
ORPHA:840: Naevus syringocystadenomatosus papilliferus
ORPHA:840: Papillary syringocystadenoma
ORPHA:840: SCAP
ORPHA:840: Syringadenoma papilliferum
ORPHA:84064: Syndromic diarrhea
ORPHA:84064: Phenotypic diarrhea
ORPHA:84064: SD/THE
ORPHA:84064: Syndromic diarrhea/Tricho-hepato-enteric syndrome
ORPHA:84064: Tricho-hepato-enteric syndrome
ORPHA:84064: Trichohepatoenteric syndrome
ORPHA:84065: Idiopathic malabsorption due to bile acid synthesis defects
ORPHA:84065: Idiopathic bile acid malabsorption
ORPHA:84081: Senior-Boichis syndrome
ORPHA:84081: Boichis disease
ORPHA:84081: Nephronophthisis-hepatic fibrosis syndrome
ORPHA:84085: Hinman syndrome
ORPHA:84085: HAS
ORPHA:84085: HS
ORPHA:84085: Hinman-Allen syndrome
ORPHA:84085: Non-neurogenic neurogenic bladder
ORPHA:84085: Occult neuropathic bladder
ORPHA:84087: Collagen type III glomerulopathy
ORPHA:84087: Collagenofibrotic glomerulopathy
ORPHA:84090: Fibronectin glomerulopathy
ORPHA:84090: GFND
ORPHA:84090: Glomerulopathy with fibronectin deposits
ORPHA:84093: Hereditary thermosensitive neuropathy
ORPHA:841: Sebocystomatosis
ORPHA:841: Steatocystoma multiplex
ORPHA:84132: Desmin-related myopathy with Mallory body-like inclusions
ORPHA:84132: Early-onset desmin-related myopathy
ORPHA:84142: Isaacs syndrome
ORPHA:84142: Continuous muscle fiber activity syndrome
ORPHA:84142: Isaacs-Mertens syndrome
ORPHA:84142: Quantal squander syndrome
ORPHA:842: Testicular seminomatous germ cell tumor
ORPHA:842: Seminoma of testis
ORPHA:842: Seminomatous germ cell tumor of testis
ORPHA:842: Testicular seminoma
ORPHA:844: Lown-Ganong-Levine syndrome
ORPHA:844: Atrial tachyarrhythmia with short PR interval
ORPHA:844: LGL syndrome
ORPHA:845: Tay-Sachs disease
ORPHA:845: Beta-hexosaminidase subunit alpha deficiency
ORPHA:845: GM2 gangliosidosis, Tay-Sachs variant
ORPHA:845: GM2 gangliosidosis, hexosaminidase A deficiency variant
ORPHA:845: HEXA disorder
ORPHA:846: Alpha-thalassemia
ORPHA:847: X-linked alpha-thalassemia-intellectual disability syndrome
ORPHA:847: ATR-X syndrome
ORPHA:848: Beta-thalassemia
ORPHA:849: Glanzmann thrombasthenia
ORPHA:85: Congenital dyserythropoietic anemia
ORPHA:85: CDA
ORPHA:851: Paris-Trousseau thrombocytopenia
ORPHA:85102: Perineurioma
ORPHA:85110: Familial encephalopathy with neuroserpin inclusion bodies
ORPHA:85110: FENIB
ORPHA:85112: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
ORPHA:85112: Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
ORPHA:85128: Bothnia retinal dystrophy
ORPHA:85128: Västerbotten dystrophy
ORPHA:85136: Cystic leukoencephalopathy without megalencephaly
ORPHA:85136: CLWM
ORPHA:85138: Addison disease
ORPHA:85138: Autoimmune Addison disease
ORPHA:85138: Autoimmune adrenalitis
ORPHA:85138: Classic Addison disease
ORPHA:85138: Primary Addison disease
ORPHA:85146: Neurogenic scapuloperoneal syndrome, Kaeser type
ORPHA:85146: Kaeser syndrome
ORPHA:85146: Stark-Kaeser syndrome
ORPHA:85162: Facial onset sensory and motor neuronopathy
ORPHA:85162: FOSMN syndrome
ORPHA:85163: Hypomyelination-congenital cataract syndrome
ORPHA:85164: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
ORPHA:85164: CATSHL syndrome
ORPHA:85164: Camptodactyly-tall stature-scoliosis-deafness syndrome
ORPHA:85165: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
ORPHA:85165: SADDAN
ORPHA:85166: Platyspondylic dysplasia, Torrance type
ORPHA:85166: PLSD-T
ORPHA:85166: Platyspondylic dysplasia, Torrance-Luton type
ORPHA:85166: Platyspondylic lethal skeletal dysplasia, Torrance type
ORPHA:85167: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
ORPHA:85167: SMD-CRD
ORPHA:85168: Craniofacial conodysplasia
ORPHA:85169: Familial digital arthropathy-brachydactyly
ORPHA:85170: Mesomelic dysplasia, Savarirayan type
ORPHA:85170: Mesomelic dysplasia with absent fibulas and triangular tibias
ORPHA:85170: Triangular tibia-fibular aplasia syndrome
ORPHA:85172: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
ORPHA:85173: IMAGe syndrome
ORPHA:85173: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
ORPHA:85174: Pseudodiastrophic dysplasia
ORPHA:85175: Astley-Kendall dysplasia
ORPHA:85179: Infantile osteopetrosis with neuroaxonal dysplasia
ORPHA:85182: Diaphyseal medullary stenosis-bone malignancy syndrome
ORPHA:85182: Bone dysplasia-medullary fibrosarcoma syndrome
ORPHA:85182: Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
ORPHA:85182: Hardcastle syndrome
ORPHA:85184: Craniometadiaphyseal dysplasia, wormian bone type
ORPHA:85186: Endosteal sclerosis-cerebellar hypoplasia syndrome
ORPHA:85188: Metaphyseal dysplasia, Braun-Tinschert type
ORPHA:85191: Singleton-Merten dysplasia
ORPHA:85191: Singleton-Merten syndrome
ORPHA:85192: Calvarial doughnut lesions-bone fragility syndrome
ORPHA:85192: Familial doughnut lesions of skull
ORPHA:85193: Idiopathic juvenile osteoporosis
ORPHA:85193: IJO
ORPHA:85193: Juvenile osteoporosis
ORPHA:85194: Spondylo-ocular syndrome
ORPHA:85195: Familial expansile osteolysis
ORPHA:85195: Hereditary expansile polyostotic osteolytic dysplasia
ORPHA:85195: McCabe disease
ORPHA:85197: Genochondromatosis type 1
ORPHA:85198: Dysspondyloenchondromatosis
ORPHA:85199: Craniosynostosis-anal anomalies-porokeratosis syndrome
ORPHA:85199: CAP syndrome
ORPHA:85199: CDAGS syndrome
ORPHA:852: X-linked thrombocytopenia with normal platelets
ORPHA:85201: Genitopatellar syndrome
ORPHA:85201: Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
ORPHA:85202: Keutel syndrome
ORPHA:85202: Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
ORPHA:85203: Acropectoral syndrome
ORPHA:85203: ACRP syndrome
ORPHA:85203: Syndactyly-preaxial polydactyly-sternal deformity syndrome
ORPHA:85212: Fetal Gaucher disease
ORPHA:85212: Perinatal lethal Gaucher disease
ORPHA:85273: X-linked intellectual disability, Abidi type
ORPHA:85274: Syndromic X-linked intellectual disability 7
ORPHA:85274: MRXS7
ORPHA:85274: X-linked intellectual disability, Ahmad type
ORPHA:85275: Microphthalmia-ankyloblepharon-intellectual disability syndrome
ORPHA:85275: MCOPS4
ORPHA:85275: Syndromic microphthalmia type 4
ORPHA:85276: X-linked intellectual disability, Armfield type
ORPHA:85276: Armfield syndrome
ORPHA:85277: X-linked intellectual disability, Cantagrel type
ORPHA:85278: Christianson syndrome
ORPHA:85278: X-linked Angelman-like syndrome
ORPHA:85279: KDM5C-related syndromic X-linked intellectual disability
ORPHA:85280: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
ORPHA:85282: MEHMO syndrome
ORPHA:85282: X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
ORPHA:85283: X-linked intellectual disability, Miles-Carpenter type
ORPHA:85284: BRESEK syndrome
ORPHA:85284: BRESHECK syndrome
ORPHA:85285: X-linked intellectual disability, Schimke type
ORPHA:85286: X-linked intellectual disability, Shashi type
ORPHA:85286: Syndromic X-linked intellectual disability type 11
ORPHA:85287: X-linked intellectual disability, Siderius type
ORPHA:85288: X-linked intellectual disability, Stocco Dos Santos type
ORPHA:85290: X-linked intellectual disability, Wilson type
ORPHA:85292: X-linked spinocerebellar ataxia type 4
ORPHA:85292: SCAX4
ORPHA:85292: X-linked ataxia-dementia syndrome
ORPHA:85293: X-linked intellectual disability, Cabezas type
ORPHA:85293: Cabezas syndrome
ORPHA:85294: X-linked epilepsy-learning disabilities-behavior disorders syndrome
ORPHA:85295: HSD10 disease, atypical type
ORPHA:85295: HSD10 deficiency, atypical type
ORPHA:85295: Syndromic X-linked intellectual disability type 10
ORPHA:85295: X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
ORPHA:85297: X-linked spinocerebellar ataxia type 3
ORPHA:85297: SCAX3
ORPHA:85297: X-linked ataxia-deafness syndrome
ORPHA:85297: X-linked ataxia-hearing loss syndrome
ORPHA:853: Fetal and neonatal alloimmune thrombocytopenia
ORPHA:853: FNAIT
ORPHA:853: NAIT
ORPHA:85317: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
ORPHA:85319: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
ORPHA:85320: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
ORPHA:85320: Johnson syndrome
ORPHA:85321: Deafness-intellectual disability syndrome, Martin-Probst type
ORPHA:85321: Hearing loss-intellectual disability syndrome, Martin-Probst type
ORPHA:85321: Martin-Probst syndrome
ORPHA:85321: X-linked deafness-intellectual disability syndrome
ORPHA:85321: X-linked hearing loss-intellectual disability syndrome
ORPHA:85322: X-linked intellectual disability, Pai type
ORPHA:85323: X-linked intellectual disability, Seemanova type
ORPHA:85324: X-linked intellectual disability, Shrimpton type
ORPHA:85324: MRXS9
ORPHA:85325: X-linked intellectual disability, Stevenson type
ORPHA:85326: X-linked intellectual disability, Stoll type
ORPHA:85327: X-linked intellectual disability-acromegaly-hyperactivity syndrome
ORPHA:85329: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
ORPHA:85332: X-linked intellectual disability-retinitis pigmentosa syndrome
ORPHA:85332: Aldred syndrome
ORPHA:85332: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
ORPHA:85332: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
ORPHA:85332: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
ORPHA:85334: X-linked neurodegenerative syndrome, Bertini type
ORPHA:85335: Fried syndrome
ORPHA:85336: X-linked neurodegenerative syndrome, Hamel type
ORPHA:85338: X-linked intellectual disability-ataxia-apraxia syndrome
ORPHA:854: Non-malignant and non-cirrhotic portal vein thrombosis
ORPHA:854: Non-cirrhotic and non-tumoral portal vein thrombosis
ORPHA:854: Non-malignant non-cirrhotic PVT
ORPHA:85408: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
ORPHA:85408: Juvenile polyarthritis without rheumatoid factor
ORPHA:85408: Juvenile rheumatoid factor-negative polyarthritis
ORPHA:85408: Rheumatoid factor-negative polyarticular JIA
ORPHA:85410: Oligoarticular juvenile idiopathic arthritis
ORPHA:85410: Oligoarticular JIA
ORPHA:85410: Pauciarticular chronic arthritis
ORPHA:85414: Systemic-onset juvenile idiopathic arthritis
ORPHA:85414: Still disease
ORPHA:85414: Systemic-onset JIA
ORPHA:85435: Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
ORPHA:85435: Juvenile idiopathic rheumatoid factor-positive polyarthritis
ORPHA:85435: Juvenile polyarthritis with rheumatoid factor
ORPHA:85435: Rheumatoid factor-positive polyarticular JIA
ORPHA:85436: Psoriasis-related juvenile idiopathic arthritis
ORPHA:85436: Juvenile psoriatic arthritis
ORPHA:85436: Psoriasis-related JIA
ORPHA:85438: Enthesitis-related juvenile idiopathic arthritis
ORPHA:85438: Enthesitis-related JIA
ORPHA:85438: Juvenile ERA
ORPHA:85442: Short stature-pituitary and cerebellar defects-small sella turcica syndrome
ORPHA:85443: AL amyloidosis
ORPHA:85443: Light-chain amyloidosis
ORPHA:85445: AA amyloidosis
ORPHA:85445: Inflammatory amyloidosis
ORPHA:85445: Reactive amyloidosis
ORPHA:85446: Wild type ABeta2M amyloidosis
ORPHA:85446: ABeta2Mwt amyloidosis
ORPHA:85446: Dialysis-related amyloidosis
ORPHA:85446: Dialysis-related arthropathy
ORPHA:85446: Wild type ABeta2-microglobulinic amyloidosis
ORPHA:85447: ATTRV30M amyloidosis
ORPHA:85447: ATTRV30M-related amyloidosis
ORPHA:85447: Hereditary ATTRV30M-related amyloidosis
ORPHA:85448: AGel amyloidosis
ORPHA:85448: Familial amyloid polyneuropathy type IV
ORPHA:85448: Familial amyloidosis, Finnish type
ORPHA:85448: Gelsolin amyloidosis
ORPHA:85448: Hereditary amyloidosis, Finnish type
ORPHA:85450: Hereditary amyloidosis with primary renal involvement
ORPHA:85450: Amyloidosis, Ostertag type
ORPHA:85450: Familial amyloid nephropathy
ORPHA:85450: Familial renal amyloidosis
ORPHA:85450: Hereditary amyloid nephropathy
ORPHA:85450: Hereditary renal amyloidosis
ORPHA:85451: ATTRV122I amyloidosis
ORPHA:85451: ATTRV122I-related amyloidosis
ORPHA:85453: X-linked reticulate pigmentary disorder
ORPHA:85453: Familial cutaneous amyloidosis
ORPHA:85453: PDR
ORPHA:85453: Partington disease
ORPHA:85453: X-linked cutaneous amyloidosis
ORPHA:85453: XLPDR
ORPHA:85458: Cerebral Amyloid Angiopathy
ORPHA:85458: HCHWA
ORPHA:85458: Hereditary cerebral hemorrhage with amyloidosis
ORPHA:857: Townes-Brocks syndrome
ORPHA:857: Imperforate anus-hand, foot and ear anomalies syndrome
ORPHA:857: REAR syndrome
ORPHA:857: Renal-ear-anal-radial syndrome
ORPHA:857: Sensorineural deafness with imperforate anus and hypoplastic thumbs
ORPHA:857: Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
ORPHA:857: TBS
ORPHA:857: Townes syndrome
ORPHA:858: Congenital toxoplasmosis
ORPHA:858: Mother-to-child transmission of toxoplasmosis
ORPHA:858: Toxoplasma embryofetopathy
ORPHA:858: Toxoplasma embryopathy
ORPHA:859: Transcobalamin deficiency
ORPHA:859: Inherited deficiency of transcobalamin
ORPHA:859: Transcobalamin II deficiency
ORPHA:86: Familial abdominal aortic aneurysm
ORPHA:860: Congenitally uncorrected transposition of the great arteries
ORPHA:860: Congenitally uncorrected transposition of the great vessels
ORPHA:860: D-transposition of the great arteries
ORPHA:860: Dextro-transposition of the great arteries
ORPHA:860: Isolated ventriculoarterial discordance
ORPHA:860: Ventriculoarterial discordance with atrioventricular concordance
ORPHA:861: Treacher-Collins syndrome
ORPHA:861: Franceschetti-Klein syndrome
ORPHA:861: Mandibulofacial dysostosis without limb anomalies
ORPHA:863: Trichinellosis
ORPHA:863: Trichinosis
ORPHA:86309: DPAGT1-CDG
ORPHA:86309: CDG syndrome type Ij
ORPHA:86309: CDG-Ij
ORPHA:86309: CDG1J
ORPHA:86309: Carbohydrate deficient glycoprotein syndrome type Ij
ORPHA:86309: Congenital disorder of glycosylation type 1j
ORPHA:86309: Congenital disorder of glycosylation type Ij
ORPHA:86309: Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
ORPHA:864: Trichofolliculoma
ORPHA:867: Familial multiple trichoepithelioma
ORPHA:86788: X-linked severe congenital neutropenia
ORPHA:86789: Isolated patella aplasia/hypoplasia
ORPHA:86789: PTLAH
ORPHA:86795: Localized lichen myxedematosus
ORPHA:86795: Papular mucinosis
ORPHA:86797: Atypical lichen myxedematosus
ORPHA:86797: Intermediate lichen myxedematosus
ORPHA:868: Triose phosphate-isomerase deficiency
ORPHA:86812: POMT1-related limb-girdle muscular dystrophy R11
ORPHA:86812: Autosomal recessive limb-girdle muscular dystrophy type 2K
ORPHA:86812: LGMD type 2K
ORPHA:86812: LGMD2K
ORPHA:86812: Limb-girdle muscular dystrophy type 2K
ORPHA:86812: Limb-girdle muscular dystrophy-intellectual disability syndrome
ORPHA:86812: POMT1-related LGMD R11
ORPHA:86813: Helicoid peripapillary chorioretinal degeneration
ORPHA:86813: Atrophia areata