TaoMedAI/RareMedData huggingface dataset:
ORPHA:2839: Pelvis-shoulder dysplasia
ORPHA:2839: Kosenow syndrome
ORPHA:2839: Scapuloiliac dysostosis
ORPHA:284: Alveolar echinococcosis
ORPHA:284: Echinococcus multilocularis infection
ORPHA:2840: Pelvic dysplasia-arthrogryposis of lower limbs syndrome
ORPHA:2840: Ray-Peterson-Scott syndrome
ORPHA:2841: Hailey-Hailey disease
ORPHA:2841: Benign chronic familial pemphigus
ORPHA:284139: Larsen-like syndrome, B3GAT3 type
ORPHA:284139: Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
ORPHA:284149: Craniosynostosis-dental anomalies
ORPHA:284149: Kreiborg-Pakistani syndrome
ORPHA:284160: 8q21.11 microdeletion syndrome
ORPHA:284160: Del(8)(q21.11)
ORPHA:284160: Deletion 8q21.11
ORPHA:284160: Monosomy 8q21.11
ORPHA:284169: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
ORPHA:284169: 10p12p11 microdeletion syndrome
ORPHA:284169: Del(10)(p11.21p12.31)
ORPHA:284169: Deletion 10p11.21p12.31
ORPHA:284169: Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion
ORPHA:284169: Monosomy 10p11.21p12.31
ORPHA:284180: Xp22.13p22.2 duplication syndrome
ORPHA:284180: Dup(X)(p22)
ORPHA:284180: Dup(X)(p22.13p22.2)
ORPHA:284180: Duplication Xp22
ORPHA:2842: Penoscrotal transposition
ORPHA:284227: TEMPI syndrome
ORPHA:284227: Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome
ORPHA:284232: Autosomal dominant Charcot-Marie-Tooth disease type 2O
ORPHA:284232: CMT2O
ORPHA:284247: Familial retinal arterial macroaneurysm
ORPHA:284247: FRAM
ORPHA:284247: Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
ORPHA:284264: IgG4-related disease
ORPHA:284264: IgG4-related sclerosing disease
ORPHA:284264: Immunoglobulin G4-related sclerosing disease
ORPHA:284271: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
ORPHA:284271: Autosomal recessive spinocerebellar ataxia type 11
ORPHA:284271: SCAR11
ORPHA:284282: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
ORPHA:284282: Autosomal recessive spinocerebellar ataxia type 12
ORPHA:284282: SCAR12
ORPHA:284289: Adult-onset autosomal recessive cerebellar ataxia
ORPHA:284289: Autosomal recessive spinocerebellar ataxia type 10
ORPHA:284289: SCAR10
ORPHA:2843: Pentosuria
ORPHA:2843: Essential pentosuria
ORPHA:2843: Xylitol dehydrogenase deficiency
ORPHA:284324: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
ORPHA:284324: Autosomal recessive spinocerebellar ataxia type 7
ORPHA:284324: SCAR7
ORPHA:284332: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
ORPHA:284332: Autosomal recessive spinocerebellar ataxia type 6
ORPHA:284332: SCAR6
ORPHA:284339: Pontocerebellar hypoplasia type 7
ORPHA:284339: PCH7
ORPHA:284339: Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
ORPHA:284343: DICER1 tumor-predisposition syndrome
ORPHA:284343: PPB familial tumor and dysplasia syndrome
ORPHA:284343: PPBFTDS
ORPHA:284343: Pleuropulmonary blastoma familial tumor and dysplasia syndrome
ORPHA:284362: Fetal lung interstitial tumor
ORPHA:284362: FLIT
ORPHA:284362: Immature interstitial mesenchymal tumor
ORPHA:284385: Familial intrahepatic cholestasis
ORPHA:284388: Reversible cerebral vasoconstriction syndrome
ORPHA:284388: RCVS
ORPHA:284395: Well-differentiated fetal adenocarcinoma of the lung
ORPHA:284395: WDFA
ORPHA:284400: Small cell carcinoma of the bladder
ORPHA:284400: Poorly differentiated neuroendocrine carcinoma of the bladder
ORPHA:284400: SCCB
ORPHA:284400: Small cell bladder cancer
ORPHA:284400: Small cell bladder carcinoma
ORPHA:284400: Small cell carcinoma of the urinary bladder
ORPHA:284411: Glycerol kinase deficiency, juvenile form
ORPHA:284414: Glycerol kinase deficiency, adult form
ORPHA:284417: Phosphoserine aminotransferase deficiency, infantile/juvenile form
ORPHA:284417: PSAT deficiency, infantile/juvenile form
ORPHA:284426: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
ORPHA:284426: GSD due to lactate dehydrogenase M-subunit deficiency
ORPHA:284426: Glycogenosis due to lactate dehydrogenase M-subunit deficiency
ORPHA:284426: LDH-M subunit deficiency
ORPHA:284426: Lactate dehydrogenase A deficiency
ORPHA:284435: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
ORPHA:284435: GSD due to lactate dehydrogenase H-subunit deficiency
ORPHA:284435: Glycogenosis due to lactate dehydrogenase H-subunit deficiency
ORPHA:284435: LDH-H subunit deficiency
ORPHA:284435: Lactate dehydrogenase B deficiency
ORPHA:284448: CLIPPERS
ORPHA:284448: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
ORPHA:284454: Acute zonal occult outer retinopathy
ORPHA:284454: AZOOR
ORPHA:284460: Acute annular outer retinopathy
ORPHA:284460: AAOR
ORPHA:2846: Congenital pericardium anomaly
ORPHA:2847: Pericardial and diaphragmatic defect
ORPHA:284786: Qualitative or quantitative defects of troponin
ORPHA:284790: Qualitative or quantitative defects of tropomyosin
ORPHA:2848: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
ORPHA:2848: Arthropathy-camptodactyly syndrome
ORPHA:2848: CACP syndrome
ORPHA:2848: Pericarditis-arthropathy-camptodactyly syndrome
ORPHA:284804: Ocular albinism
ORPHA:284811: Syndromic oculocutaneous albinism
ORPHA:284814: Disorder of phenylalanine metabolism
ORPHA:284818: Disorder of tyrosine metabolism
ORPHA:2849: Perlman syndrome
ORPHA:2849: Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
ORPHA:284963: Marfan syndrome type 1
ORPHA:284963: MFS1
ORPHA:284973: Marfan syndrome type 2
ORPHA:284973: MFS2
ORPHA:284979: Neonatal Marfan syndrome
ORPHA:284979: Neonatal MFS
ORPHA:284984: Aneurysm-osteoarthritis syndrome
ORPHA:284993: Marfan syndrome and Marfan-related disorders
ORPHA:285: Hypermobile Ehlers-Danlos syndrome
ORPHA:285: EDS III
ORPHA:285: EDS-HT
ORPHA:285: Ehlers-Danlos syndrome hypermobility type
ORPHA:285: Ehlers-Danlos syndrome type 3
ORPHA:285: Hypermobile EDS
ORPHA:285: hEDS
ORPHA:2850: Alopecia-intellectual disability syndrome
ORPHA:2850: Perniola-Krajewska-Carnevale syndrome
ORPHA:285014: Rare disease with thoracic aortic aneurysm and aortic dissection
ORPHA:2854: Fuhrmann syndrome
ORPHA:2854: Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
ORPHA:2854: Fuhrmann-Rieger-de Sousa syndrome
ORPHA:2855: Perrault syndrome
ORPHA:2855: XX gonadal dysgenesis-deafness syndrome
ORPHA:2855: XX gonadal dysgenesis-hearing loss syndrome
ORPHA:2856: Persistent Müllerian duct syndrome
ORPHA:2856: PMDS
ORPHA:2856: Persistent Müllerian derivatives
ORPHA:285657: Disorder of folate metabolism and transport
ORPHA:286: Vascular Ehlers-Danlos syndrome
ORPHA:286: Arterial-ecchymotic EDS
ORPHA:286: EDS IV
ORPHA:286: Ehlers-Danlos syndrome type 4
ORPHA:286: Sack-Barabas syndrome
ORPHA:286: Vascular EDS
ORPHA:286: vEDS
ORPHA:2863: Short stature-wormian bones-dextrocardia syndrome
ORPHA:2863: Stratton-Parker syndrome
ORPHA:2865: Short stature-webbed neck-heart disease syndrome
ORPHA:2865: Al Gazali-Aziz-Salem syndrome
ORPHA:2866: Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
ORPHA:2866: Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
ORPHA:2866: Thong-Douglas-Ferrante syndrome
ORPHA:2867: Short stature, Brussels type
ORPHA:2867: Mievis-Verellen-Dumoulin syndrome
ORPHA:2868: Short stature-valvular heart disease-characteristic facies syndrome
ORPHA:2869: Peutz-Jeghers syndrome
ORPHA:2869: Hamartomatous intestinal polyposis
ORPHA:2869: PJS
ORPHA:287: Classical Ehlers-Danlos syndrome
ORPHA:287: Classical EDS
ORPHA:287: cEDS
ORPHA:2871: Pfeiffer-Palm-Teller syndrome
ORPHA:2872: Cardiocranial syndrome, Pfeiffer type
ORPHA:2872: Craniosynostosis-congenital heart disease-intellectual disability syndrome
ORPHA:2872: Pfeiffer-Singer-Zschiesche syndrome
ORPHA:2874: Phakomatosis pigmentokeratotica
ORPHA:2875: Phakomatosis pigmentovascularis
ORPHA:2876: PHAVER syndrome
ORPHA:2876: Powell-Chandra-Saal syndrome
ORPHA:2879: Phocomelia, Schinzel type
ORPHA:2879: Al Awadi-Raas-Rothschild syndrome
ORPHA:2879: Aplasia/hypoplasia of limbs and pelvis
ORPHA:2879: Congenital absence of ulna and fibula
ORPHA:2879: Severe limb deficit
ORPHA:288: Hereditary elliptocytosis
ORPHA:288: HE
ORPHA:2880: Phosphoenolpyruvate carboxykinase deficiency
ORPHA:2880: PEPCK deficiency
ORPHA:2881: Cutaneous photosensitivity-lethal colitis syndrome
ORPHA:2882: Sitosterolemia
ORPHA:2882: Phytosterolemia
ORPHA:2884: Piebaldism
ORPHA:2885: Piebald trait-neurologic defects syndrome
ORPHA:2885: Telfer-Sugar-Jaeger syndrome
ORPHA:2886: TARP syndrome
ORPHA:2886: Pierre Robin sequence-congenital heart defect-talipes syndrome
ORPHA:2886: Pierre Robin syndrome-congenital heart defect-talipes syndrome
ORPHA:2886: Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
ORPHA:2888: Pierre Robin syndrome-faciodigital anomaly syndrome
ORPHA:2888: Chitayat-Meunier-Hodgkinson syndrome
ORPHA:2888: Pierre Robin sequence-faciodigital anomaly syndrome
ORPHA:2889: Pili torti
ORPHA:2889: Twisted hair
ORPHA:289: Ellis Van Creveld syndrome
ORPHA:289: Chondroectodermal dysplasia
ORPHA:289: Mesodermic dysplasia
ORPHA:2890: Pili torti-onychodysplasia syndrome
ORPHA:289098: Disorders of vitamin D metabolism
ORPHA:2891: Pili torti-developmental delay-neurological abnormalities syndrome
ORPHA:289103: Hypocalcemic rickets
ORPHA:289157: Hypocalcemic vitamin D-dependent rickets
ORPHA:289157: 1-alpha-hydroxylase deficiency
ORPHA:289157: PDDRI
ORPHA:289157: Pseudovitamin D-deficient rickets
ORPHA:289157: VDDI
ORPHA:289157: VDDR-I
ORPHA:289157: Vitamin D dependent rickets type I
ORPHA:289157: Vitamin D-dependency type I
ORPHA:289176: Autosomal recessive hypophosphatemic rickets
ORPHA:289176: ARHR
ORPHA:2892: Pilodental dysplasia-refractive errors syndrome
ORPHA:2892: Euhidrotic ectodermal dysplasia
ORPHA:2892: Kopysc-Barczyk-Krol syndrome
ORPHA:289266: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
ORPHA:289290: Hypermethioninemia encephalopathy due to adenosine kinase deficiency
ORPHA:289290: ADK hypermethioninemia
ORPHA:289290: Hypermethioninemia encephalopathy due to ADK deficiency
ORPHA:289307: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
ORPHA:289307: Developmental delay due to ALDH6A1 deficiency
ORPHA:289307: Developmental delay due to MMSDH deficiency
ORPHA:289326: Tropical spastic paraparesis
ORPHA:289326: HAM/TSP
ORPHA:289326: HTLV-1-associated myelopathy/tropical spastic paraparesis
ORPHA:289326: Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis
ORPHA:289326: Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis
ORPHA:289326: TSP
ORPHA:289347: Infective dermatitis associated with HTLV-1
ORPHA:289347: IDH
ORPHA:289347: Infective dermatitis associated with human T-lymphotropic virus type 1
ORPHA:289347: Infective dermatitis associated with human T-lymphotropic virus type I
ORPHA:289356: Primary non-gestational choriocarcinoma of ovary
ORPHA:289356: NGCO
ORPHA:289356: Primary non-gestational ovarian choriocarcinoma
ORPHA:289362: Non-central nervous system-localized embryonal carcinoma
ORPHA:289362: Non-CNS-localized embryonal carcinoma
ORPHA:289365: Familial vesicoureteral reflux
ORPHA:289365: Familial VUR
ORPHA:289377: Early-onset myopathy with fatal cardiomyopathy
ORPHA:289377: EOMFC
ORPHA:289377: Salih myopathy
ORPHA:289380: Myosclerosis
ORPHA:289380: Congenital myosclerosis, Löwenthal type
ORPHA:289385: Malignancy diagnosed during pregnancy
ORPHA:289385: Cancer diagnosed during pregnancy
ORPHA:289390: Primary Sjögren syndrome
ORPHA:289390: Primary Sjögren-Gougerot syndrome
ORPHA:289465: Isolated congenital adermatoglyphia
ORPHA:289465: Congenital absence of fingerprints
ORPHA:289465: Immigration delay disease
ORPHA:289478: PASH syndrome
ORPHA:289478: Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
ORPHA:289483: Intellectual disability-alacrima-achalasia syndrome
ORPHA:289494: 4H leukodystrophy
ORPHA:289494: POLR-related leukodystrophy
ORPHA:289499: Congenital cataract microcornea with corneal opacity
ORPHA:289499: CCMCO
ORPHA:289504: Combined malonic and methylmalonic acidemia
ORPHA:289504: CMAMMA
ORPHA:289504: Combined malonic and methylmalonic aciduria
ORPHA:289513: 12q15q21.1 microdeletion syndrome
ORPHA:289513: Del(12)(q15)(q21.1)
ORPHA:289513: Deletion 12q15q21.1
ORPHA:289513: Monosomy 12q15q21.1
ORPHA:289522: Microtriplication 11q24.1 syndrome
ORPHA:289522: Tetrasomy 11q24.1
ORPHA:289539: BAP1-related tumor predisposition syndrome
ORPHA:289539: Tumor susceptibility linked to germline BAP1 mutations
ORPHA:289548: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
ORPHA:289553: Dysmorphism-conductive hearing loss-heart defect syndrome
ORPHA:289560: Mitochondrial membrane protein-associated neurodegeneration
ORPHA:289560: MPAN
ORPHA:289560: NBIA due to C19orf12 mutation
ORPHA:289560: NBIA4
ORPHA:289560: Neurodegeneration with brain iron accumulation due to C19orf12 mutation
ORPHA:289560: Neurodegeneration with brain iron accumulation type 4
ORPHA:289573: Multiple mitochondrial dysfunctions syndrome
ORPHA:289586: Exfoliative ichthyosis
ORPHA:289586: Autosomal recessive exfoliative ichthyosis
ORPHA:289586: Ichthyosis exfoliativa
ORPHA:289596: Juvenile nasopharyngeal angiofibroma
ORPHA:289596: JNA
ORPHA:2896: Pitt-Hopkins syndrome
ORPHA:289601: Hereditary arterial and articular multiple calcification syndrome
ORPHA:289601: CALJA
ORPHA:289601: Calcification of joints and arteries
ORPHA:289635: Rare virus associated tumor
ORPHA:289638: Epstein-Barr Virus-related tumor
ORPHA:289638: EBV-related tumor
ORPHA:289644: Epstein-Barr virus-associated malignant lymphoproliferative disorder
ORPHA:289644: EBV-associated lymphoproliferative disorder
ORPHA:289651: Epstein-Barr Virus-associated carcinoma
ORPHA:289651: EBV-associated carcinoma
ORPHA:289656: Epstein-Barr Virus-associated mesenchymal tumor
ORPHA:289656: EBV-associated mesenchymal tumor
ORPHA:289661: Epstein-Barr virus-positive diffuse large B-cell lymphoma
ORPHA:289661: EBV-positive DLBCL
ORPHA:289661: Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified
ORPHA:289661: Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS
ORPHA:289666: Plasmablastic lymphoma
ORPHA:289666: PBL
ORPHA:289682: Lymphoepithelial-like carcinoma
ORPHA:289685: Myopericytoma
ORPHA:2897: Pityriasis rubra pilaris
ORPHA:2898: X-linked intellectual disability-plagiocephaly syndrome
ORPHA:2898: Hyde Forster-McCarthy-Berry syndrome
ORPHA:289825: Late-onset primary lymphedema without systemic or visceral involvement
ORPHA:289829: Disorder of tryptophan metabolism
ORPHA:289832: Disorder of lysine and hydroxylysine metabolism
ORPHA:289841: Disorder of glutamine metabolism
ORPHA:289846: Glutathione synthetase deficiency with 5-oxoprolinuria
ORPHA:289849: Glutathione synthetase deficiency without 5-oxoprolinuria
ORPHA:289857: Neonatal glycine encephalopathy
ORPHA:289857: Classic glycine encephalopathy
ORPHA:289857: Neonatal NKH
ORPHA:289857: Neonatal non-ketotic hyperglycinemia
ORPHA:289860: Infantile glycine encephalopathy
ORPHA:289860: Infantile NKH
ORPHA:289860: Infantile non-ketotic hyperglycinemia
ORPHA:289863: Atypical glycine encephalopathy
ORPHA:289863: Atypical NKA
ORPHA:289863: Atypical non-ketotic hyperglycinemia
ORPHA:289866: Disorder of proline metabolism
ORPHA:289869: Disorder of ornithine metabolism
ORPHA:289877: Transient hyperammonemia of the newborn
ORPHA:289891: Hypermethioninemia due to glycine N-methyltransferase deficiency
ORPHA:289891: Glycine N-methyltransferase deficiency
ORPHA:289891: Hypermethioninemia due to GNMT deficiency
ORPHA:289899: Organic aciduria
ORPHA:2899: Brachyolmia-amelogenesis imperfecta syndrome
ORPHA:2899: Platyspondyly-amelogenesis imperfecta syndrome
ORPHA:2899: Verloes-Bourguignon syndrome
ORPHA:289902: 3-methylglutaconic aciduria
ORPHA:289916: Vitamin B12-unresponsive methylmalonic acidemia type mut0
ORPHA:289916: Complete deficiency of methylmalonyl-CoA mutase
ORPHA:289916: Vitamin B12-unresponsive methylmalonic aciduria type mut0
ORPHA:29: Mevalonic aciduria
ORPHA:29: Complete mevalonate kinase deficiency
ORPHA:29: MVA
ORPHA:290: Congenital rubella syndrome
ORPHA:290: CRS
ORPHA:290: Fetal rubella syndrome
ORPHA:290: Mother-to-child transmission of rubella syndrome
ORPHA:2900: Leri pleonosteosis
ORPHA:2901: Neuralgic amyotrophy
ORPHA:2901: Acute brachial plexus neuritis
ORPHA:2901: Brachial plexus neuritis
ORPHA:2901: Immune brachial plexus neuropathy
ORPHA:2901: Mononeuritis multiplex with brachial predilection
ORPHA:2901: Neuralgic shoulder amyotrophy
ORPHA:2902: Idiopathic chronic eosinophilic pneumonia
ORPHA:2902: Chronic eosinophilic pneumonia
ORPHA:2903: Familial spontaneous pneumothorax
ORPHA:2905: POEMS syndrome
ORPHA:2905: Crow-Fukase syndrome
ORPHA:2905: Osteosclerotic myeloma
ORPHA:2905: PEP syndrome
ORPHA:2905: Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
ORPHA:2905: Takatsuki syndrome
ORPHA:2907: Hereditary acrokeratotic poikiloderma
ORPHA:2907: Weary syndrome
ORPHA:29072: Hereditary pheochromocytoma-paraganglioma
ORPHA:29072: Familial pheochromocytoma-paraganglioma
ORPHA:29073: Multiple myeloma
ORPHA:29073: Kahler disease
ORPHA:29073: Medullary plasmacytoma
ORPHA:29073: Myelomatosis
ORPHA:29073: Plasma cell myeloma
ORPHA:2908: Kindler epidermolysis bullosa
ORPHA:2908: Congenital bullous poikiloderma
ORPHA:2908: Kindler syndrome
ORPHA:2908: Poikiloderma of Kindler
ORPHA:290836: Systemic disease with skin involvement
ORPHA:290839: Autoinflammatory syndrome with immune deficiency
ORPHA:290842: Autoinflammatory syndrome with skin involvement
ORPHA:290849: Rare head and neck tumor
ORPHA:2909: Rothmund-Thomson syndrome
ORPHA:2909: Poikiloderma of Rothmund-Thomson
ORPHA:2909: RTS
ORPHA:291: Congenital varicella syndrome
ORPHA:291: Antenatal varicella virus infection
ORPHA:291: Mother-to-child transmission of varicella syndrome
ORPHA:2911: Poland syndrome
ORPHA:2911: Poland anomaly
ORPHA:2911: Poland sequence
ORPHA:2912: Poliomyelitis
ORPHA:2913: Non-syndromic polydactyly
ORPHA:2916: Postaxial polydactyly-dental and vertebral anomalies syndrome
ORPHA:2917: Polydactyly-myopia syndrome
ORPHA:2917: Czeizel-Brooser syndrome
ORPHA:2919: Orofaciodigital syndrome type 5
ORPHA:2919: OFD5
ORPHA:2919: Oral-facial-digital syndrome type 5
ORPHA:2919: Orofaciodigital syndrome, Thurston type
ORPHA:2919: Polydactyly postaxial with median cleft of upper lip
ORPHA:2919: Thurston syndrome
ORPHA:292: Congenital enterovirus infection
ORPHA:292: Antenatal enterovirus infection
ORPHA:292: Mother-to-child transmission of enterovirus infection
ORPHA:2920: Oliver syndrome
ORPHA:2920: Postaxial polydactyly-intellectual disability syndrome
ORPHA:29207: Reactive arthritis
ORPHA:29207: Fiessinger-Leroy disease
ORPHA:2921: Preaxial polydactyly-colobomata-intellectual disability syndrome
ORPHA:2921: Pfeiffer-Mayer syndrome
ORPHA:2924: Isolated polycystic liver disease
ORPHA:2924: ADPCLD
ORPHA:2924: Autosomal dominant polycystic liver disease
ORPHA:2924: PCLD
ORPHA:2926: Digital extensor muscle aplasia-polyneuropathy
ORPHA:2926: Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
ORPHA:2926: Hamanishi-Ueba-Tsuji syndrome
ORPHA:2926: Polyneuropathy-hand defect syndrome
ORPHA:2928: Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
ORPHA:2928: Lundberg syndrome
ORPHA:2929: Juvenile polyposis syndrome
ORPHA:2929: JIP
ORPHA:2929: JPS
ORPHA:2929: Juvenile gastrointestinal polyposis
ORPHA:2929: Juvenile intestinal polyposis
ORPHA:293: Congenital herpes simplex virus infection
ORPHA:293: Antenatal herpes simplex virus infection
ORPHA:293: Mother-to-child transmission of herpes simplex virus infection
ORPHA:2930: Cronkhite-Canada syndrome
ORPHA:2930: Gastrointestinal polyposis-ectodermal changes syndrome
ORPHA:2930: Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome
ORPHA:293144: Familial clubfoot due to 5q31 microdeletion
ORPHA:293144: Hereditary clubfoot due to 5q31 microdeletion
ORPHA:293150: Familial clubfoot due to PITX1 point mutation
ORPHA:293150: Hereditary clubfoot due to PITX1 point mutation
ORPHA:293165: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
ORPHA:293165: Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
ORPHA:293168: Infantile-onset ascending hereditary spastic paralysis
ORPHA:293168: IAHSP
ORPHA:293173: Acute generalized exanthematous pustulosis
ORPHA:293173: AGEP
ORPHA:293173: Pustular drug eruption
ORPHA:293173: Toxic pustuloderma
ORPHA:293181: Epilepsy of infancy with migrating focal seizures
ORPHA:293181: EIMFS
ORPHA:293181: Epilepsy with migrating focal seizure in infancy
ORPHA:293181: MMPEI
ORPHA:293181: MMPSI
ORPHA:293181: MPEI
ORPHA:293181: MPSI
ORPHA:293181: Malignant migrating partial epilepsy of infancy
ORPHA:293181: Malignant migrating partial seizures of infancy
ORPHA:293181: Migrating partial epilepsy of infancy
ORPHA:293181: Migrating partial seizures of infancy
ORPHA:293199: Pleomorphic rhabdomyosarcoma
ORPHA:2932: Chronic inflammatory demyelinating polyneuropathy
ORPHA:2932: CIDP
ORPHA:2932: Chronic inflammatory demyelinating polyradiculoneuropathy
ORPHA:293202: Epithelioid sarcoma
ORPHA:293208: Celiac artery compression syndrome
ORPHA:293208: Dunbar syndrome
ORPHA:293208: MALS
ORPHA:293208: Median arcuate ligament syndrome
ORPHA:293284: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
ORPHA:293284: BH4-responsive HPA/PKU
ORPHA:293284: BH4-responsive hyperphenylalaninemia/phenylketonuria
ORPHA:293284: Tetrahydrobiopterin-responsive HPA/PKU
ORPHA:293355: Methylmalonic acidemia without homocystinuria
ORPHA:293355: Methylmalonic aciduria without homocystinuria
ORPHA:293375: Grayson-Wilbrandt corneal dystrophy
ORPHA:293375: GWCD
ORPHA:293381: Epithelial recurrent erosion dystrophy
ORPHA:293381: Dystrophia Helsinglandica
ORPHA:293381: Dystrophia Smolandiensis
ORPHA:293381: ERED
ORPHA:293381: Recurrent hereditary corneal erosions
ORPHA:2934: Polysyndactyly-cardiac malformation syndrome
ORPHA:2934: Bonneau syndrome
ORPHA:293462: Pre-Descemet corneal dystrophy
ORPHA:293462: PDCD
ORPHA:2935: Crossed polysyndactyly
ORPHA:293603: Congenital hereditary endothelial dystrophy type II
ORPHA:293603: Autosomal recessive CHED
ORPHA:293603: Autosomal recessive congenital hereditary endothelial dystrophy
ORPHA:293603: CHED2
ORPHA:293603: CHEDII
ORPHA:293603: Congenital hereditary endothelial dystrophy type 2
ORPHA:293603: Infantile hereditary endothelial dystrophy
ORPHA:293603: Maumenee corneal dystrophy
ORPHA:293621: X-linked endothelial corneal dystrophy
ORPHA:293621: XECD
ORPHA:293633: PYCR1-related De Barsy syndrome
ORPHA:293633: PYCR1 deficiency
ORPHA:293633: Pyrroline-5-carboxylate reductase 1 deficiency
ORPHA:293642: Blepharophimosis-intellectual disability syndrome
ORPHA:293642: BMRS
ORPHA:293707: Blepharophimosis-intellectual disability syndrome, MKB type
ORPHA:293707: BMRS, MKB type
ORPHA:293707: BMRS, Maat-Kievit-Brunner type
ORPHA:293707: Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
ORPHA:293707: X-linked Ohdo syndrome
ORPHA:293725: Blepharophimosis-intellectual disability syndrome, Verloes type
ORPHA:293725: BMRS type V
ORPHA:293725: BMRS, Verloes type
ORPHA:293725: Blepharophimosis-intellectual disability syndrome type V
ORPHA:293807: Ketamine-induced biliary dilatation
ORPHA:293812: Fixed drug eruption
ORPHA:293815: Toxic dermatosis
ORPHA:293822: MITF-related melanoma and renal cell carcinoma predisposition syndrome
ORPHA:293825: Congenital dyserythropoietic anemia type IV
ORPHA:293825: CDA IV
ORPHA:293825: CDA due to KLF1 mutation
ORPHA:293825: CDA type 4
ORPHA:293825: CDA type IV
ORPHA:293825: CDAN4
ORPHA:293825: Congenital dyserythropoietic anemia due to KLF1 mutation
ORPHA:293825: Congenital dyserythropoietic anemia type 4
ORPHA:293830: Constitutional dyserythropoietic anemia
ORPHA:293843: 3MC syndrome
ORPHA:293843: Craniofacial-ulnar-renal syndrome
ORPHA:293843: Malpuech-Michels-Mingarelli-Carnevale syndrome