TaoMedAI/RareMedData huggingface dataset:
ORPHA:1415: Cholestasis-pigmentary retinopathy-cleft palate syndrome
ORPHA:1415: HDKR
ORPHA:1415: MED12-related Hardikar syndrome
ORPHA:1416: Familial calcium pyrophosphate deposition
ORPHA:1416: Calcium pyrophosphate dihydrate crystal deposition disease
ORPHA:1416: Familial CC
ORPHA:1416: Familial CPPD
ORPHA:1416: Familial articular chondrocalcinosis
ORPHA:1416: Hereditary CC
ORPHA:1416: Hereditary articular chondrocalcinosis
ORPHA:1416: Hereditary calcium pyrophosphate deposition
ORPHA:142: Anaplastic thyroid carcinoma
ORPHA:1422: Chondrodysplasia-difference of sex development syndrome
ORPHA:1422: Chondrodysplasia-disorder of sex development syndrome
ORPHA:1422: Chondrodysplasia-pseudohermaphroditism syndrome
ORPHA:1422: Nivelon-Nivelon-Mabille syndrome
ORPHA:1423: Lethal recessive chondrodysplasia
ORPHA:1423: Maroteaux-Stanescu-Cousin syndrome
ORPHA:1425: Desbuquois syndrome
ORPHA:1425: DBQD
ORPHA:1425: Desbuquois dysplasia
ORPHA:1426: Greenberg dysplasia
ORPHA:1426: HEM dysplasia
ORPHA:1426: Hydrops-ectopic calcification-motheaten syndrome
ORPHA:1426: Skeletal dysplasia, Greenberg type
ORPHA:1427: Autosomal recessive otospondylomegaepiphyseal dysplasia
ORPHA:1427: OSMED
ORPHA:1429: Benign hereditary chorea
ORPHA:1429: BHC
ORPHA:1429: Benign familial chorea
ORPHA:143: Parathyroid carcinoma
ORPHA:1431: Paroxysmal dyskinesia
ORPHA:1431: Paroxysmal choreoathetosis
ORPHA:1431: Paroxysmal dystonic choreoathetosis
ORPHA:1433: Choroidal atrophy-alopecia syndrome
ORPHA:1433: Moloney syndrome
ORPHA:1433: Regional choroidal atrophy and alopecia
ORPHA:1435: Xq21 microdeletion syndrome
ORPHA:1435: Ayazi syndrome
ORPHA:1435: Del(X)(q21)
ORPHA:1435: Monosomy Xq21
ORPHA:1436: X-linked skeletal dysplasia-intellectual disability syndrome
ORPHA:1436: Christian syndrome
ORPHA:1437: Ring chromosome 1 syndrome
ORPHA:1437: Ring 1
ORPHA:1437: Ring chromosome 1
ORPHA:1437: r(1) syndrome
ORPHA:1438: Ring chromosome 10 syndrome
ORPHA:1438: Ring 10
ORPHA:1438: Ring chromosome 10
ORPHA:1439: Ring chromosome 12 syndrome
ORPHA:1439: Ring 12
ORPHA:1439: Ring chromosome 12
ORPHA:144: Lynch syndrome
ORPHA:1440: Ring chromosome 14 syndrome
ORPHA:1440: Ring 14
ORPHA:1440: Ring chromosome 14
ORPHA:1441: Ring chromosome 17 syndrome
ORPHA:1441: Ring 17
ORPHA:1441: Ring chromosome 17
ORPHA:1442: Ring chromosome 18 syndrome
ORPHA:1442: Ring 18
ORPHA:1442: Ring chromosome 18
ORPHA:1443: Ring chromosome 19 syndrome
ORPHA:1443: Ring 19
ORPHA:1443: Ring chromosome 19
ORPHA:1444: Ring chromosome 20 syndrome
ORPHA:1444: Ring 20
ORPHA:1444: Ring chromosome 20
ORPHA:1445: Ring chromosome 21 syndrome
ORPHA:1446: Ring chromosome 22 syndrome
ORPHA:1446: Ring 22
ORPHA:1446: Ring chromosome 22
ORPHA:1446: r(22) syndrome
ORPHA:1447: Ring chromosome 4 syndrome
ORPHA:1447: Ring 4
ORPHA:1447: Ring chromosome 4
ORPHA:1447: Syndrome r(4)
ORPHA:1447: r(4) syndrome
ORPHA:1448: Ring chromosome 6 syndrome
ORPHA:1448: Ring 6
ORPHA:1448: Ring chromosome 6
ORPHA:1449: Ring chromosome 7 syndrome
ORPHA:1449: Ring 7
ORPHA:1449: Ring chromosome 7
ORPHA:145: Hereditary breast and/or ovarian cancer syndrome
ORPHA:1450: Ring chromosome 8 syndrome
ORPHA:1450: Ring 8
ORPHA:1450: Ring chromosome 8
ORPHA:1450: r(8) syndrome
ORPHA:1451: CINCA syndrome
ORPHA:1451: Chronic infantile neurological cutaneous and articular syndrome
ORPHA:1451: IOMID syndrome
ORPHA:1451: Infantile-onset multisystem inflammatory disease
ORPHA:1451: NOMID syndrome
ORPHA:1451: Neonatal-onset multisystem inflammatory disease
ORPHA:1451: Prieur-Griscelli syndrome
ORPHA:1452: Cleidocranial dysplasia
ORPHA:1452: Cleidocranial dysostosis
ORPHA:1453: Cleidorhizomelic syndrome
ORPHA:1453: Rhizomelic shortness with clavicular defect
ORPHA:1453: Wallis-Zieff-Goldblatt syndrome
ORPHA:1454: Joubert syndrome with hepatic defect
ORPHA:1454: COACH syndrome
ORPHA:1454: Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
ORPHA:1454: Gentile syndrome
ORPHA:1454: JS-H
ORPHA:1454: Joubert syndrome with congenital hepatic fibrosis
ORPHA:1456: Middle aortic syndrome
ORPHA:1456: Abdominal coarctation
ORPHA:1456: Coarctation of the abdominal aorta
ORPHA:1456: MAC
ORPHA:1456: Mid-aortic dysplastic syndrome
ORPHA:1456: Mid-aortic syndrome
ORPHA:1456: Midaortic syndrome
ORPHA:1456: Middle aortic coarctation
ORPHA:1457: Aorta coarctation
ORPHA:1458: CODAS syndrome
ORPHA:1458: Cerebrooculodentoauriculoskeletal syndrome
ORPHA:1459: Celiac disease-epilepsy-cerebral calcification syndrome
ORPHA:1459: CEC
ORPHA:146: Differentiated thyroid carcinoma
ORPHA:146: Papillary or follicular thyroid carcinoma
ORPHA:146: Well-differentiated thyroid carcinoma
ORPHA:1460: Isolated complex III deficiency
ORPHA:1460: Isolated CoQ-cytochrome C reductase deficiency
ORPHA:1460: Isolated coenzyme Q-cytochrome C reductase deficiency
ORPHA:1460: Isolated mitochondrial respiratory chain complex III deficiency
ORPHA:1460: Isolated ubiquinone-cytochrome C reductase deficiency
ORPHA:1461: Criss-cross heart
ORPHA:1461: Criss-cross atrioventricular relationships
ORPHA:1461: Superoinferior ventricles
ORPHA:1461: Twisted atrioventricular connections
ORPHA:1463: Triatrial heart
ORPHA:1463: Cor triatriatum
ORPHA:1464: Univentricular heart
ORPHA:1464: Double inlet atrioventricular connection
ORPHA:1465: Coffin-Siris syndrome
ORPHA:1465: CSS
ORPHA:1466: COFS syndrome
ORPHA:1466: Cerebrooculofacioskeletal syndrome
ORPHA:1466: Pena-Shokeir syndrome type 2
ORPHA:1467: Cogan syndrome
ORPHA:147: Carbamoyl-phosphate synthetase 1 deficiency
ORPHA:147: CPS1 deficiency
ORPHA:147: CPS1D
ORPHA:147: Carbamoyl-phosphate synthetase I deficiency
ORPHA:147: Carbamoyl-phosphate synthetase deficiency
ORPHA:1471: Coloboma of macula-brachydactyly type B syndrome
ORPHA:1471: Sorsby syndrome
ORPHA:1473: Uveal coloboma-cleft lip and palate-intellectual disability
ORPHA:1475: Renal coloboma syndrome
ORPHA:1475: Coloboma of optic nerve with renal disease
ORPHA:1475: Papillo-renal syndrome
ORPHA:1478: Interatrial communication
ORPHA:1478: ASD
ORPHA:1478: Atrial septal defect
ORPHA:1478: Interauricular communication
ORPHA:1479: Atrial septal defect-atrioventricular conduction defects syndrome
ORPHA:148: Multiple carboxylase deficiency
ORPHA:148: MCD
ORPHA:1482: Gonococcal conjunctivitis
ORPHA:1484: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
ORPHA:1484: Ladda-Zonana-Ramer syndrome
ORPHA:1485: Arthrogryposis-hyperkeratosis syndrome, lethal form
ORPHA:1485: Johnston-Aarons-Schelley syndrome
ORPHA:1486: Lethal congenital contracture syndrome type 1
ORPHA:1486: Herva disease
ORPHA:1486: LCCS1
ORPHA:1486: Multiple contracture syndrome, Finnish type
ORPHA:1487: Cooks syndrome
ORPHA:1487: Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
ORPHA:1487: ODP
ORPHA:1488: Cooper-Jabs syndrome
ORPHA:1488: Aural atresia-multiple congenital anomalies-intellectual disability syndrome
ORPHA:1489: Whooping cough
ORPHA:1489: Pertussis
ORPHA:1490: Corneal dystrophy-perceptive deafness syndrome
ORPHA:1490: CDPD
ORPHA:1490: Corneal dystrophy with progressive deafness
ORPHA:1490: Corneal dystrophy with progressive hearing loss
ORPHA:1490: Corneal dystrophy-perceptive hearing loss syndrome
ORPHA:1490: Harboyan syndrome
ORPHA:1493: Vici syndrome
ORPHA:1493: Corpus callosum agenesis-cataract-immunodeficiency syndrome
ORPHA:1493: Dionisi-Vici-Sabetta-Gambarara syndrome
ORPHA:1495: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
ORPHA:1495: Da Silva syndrome
ORPHA:1496: Corpus callosum agenesis-neuronopathy syndrome
ORPHA:1496: Andermann syndrome
ORPHA:1496: Charlevoix disease
ORPHA:1497: X-linked complicated corpus callosum dysgenesis
ORPHA:15: Achondroplasia
ORPHA:150: Nasopharyngeal carcinoma
ORPHA:150: NCP
ORPHA:150: Squamous cell carcinoma of the nasopharynx
ORPHA:1501: Adrenocortical carcinoma
ORPHA:1501: ACC
ORPHA:1505: Short rib-polydactyly syndrome
ORPHA:1506: Thin ribs-tubular bones-dysmorphism syndrome
ORPHA:1506: Sharma-Kapoor-Ramji syndrome
ORPHA:1507: Autosomal recessive Robinow syndrome
ORPHA:1507: COVESDEM syndrome
ORPHA:1507: Costovertebral segmentation defect-mesomelia syndrome
ORPHA:1507: RRS
ORPHA:1508: Coxoauricular syndrome
ORPHA:1509: Coxopodopatellar syndrome
ORPHA:1509: Ischiocoxopodopatellar syndrome
ORPHA:1509: Ischiopatellar dysplasia
ORPHA:1509: Ischiopubicpatellar syndrome
ORPHA:1509: SPS
ORPHA:1509: Scott-Taor syndrome
ORPHA:1509: Small patella syndrome
ORPHA:1512: Crane-Heise syndrome
ORPHA:1513: Craniodiaphyseal dysplasia
ORPHA:1514: Craniodigital-intellectual disability syndrome
ORPHA:1514: Scott craniodigital syndrome
ORPHA:1514: Scott-Bryant-Graham syndrome
ORPHA:1515: Cranioectodermal dysplasia
ORPHA:1515: CED
ORPHA:1515: Sensenbrenner syndrome
ORPHA:1516: Non-syndromic bilambdoid and sagittal craniosynostosis
ORPHA:1516: BLSS
ORPHA:1516: Bilateral lambdoid and sagittal synostosis
ORPHA:1516: Isolated sagittal and bilambdoid craniosynostosis
ORPHA:1516: Non-syndromic sagittal and bilateral lambdoid synostosis
ORPHA:1517: Cantú syndrome
ORPHA:1517: Congenital hypertrichosis-acromegaloid facial features spectrum
ORPHA:1517: Congenital hypertrichosis-coarse facial features spectrum
ORPHA:1517: Hypertrichotic osteochondrodysplasia
ORPHA:1519: SPECC1L-related hypertelorism syndrome
ORPHA:1519: Brachycephalofrontonasal dysplasia
ORPHA:1519: Teebi hypertelorism syndrome
ORPHA:1520: Craniofrontonasal dysplasia
ORPHA:1520: CFND
ORPHA:1520: CFNS
ORPHA:1520: Craniofrontonasal syndrome
ORPHA:1521: Craniofrontonasal dysplasia-Poland anomaly syndrome
ORPHA:1521: Webster-Deming syndrome
ORPHA:1522: Craniometaphyseal dysplasia
ORPHA:1524: Craniomicromelic syndrome
ORPHA:1525: Cranio-osteoarthropathy
ORPHA:1525: Currarino disease
ORPHA:1525: Currarino idiopathic osteoarthropathy
ORPHA:1525: Reginato-Schiapachasse syndrome
ORPHA:1527: Craniosynostosis, Philadelphia type
ORPHA:1528: Craniotelencephalic dysplasia
ORPHA:1529: Craniofacial-deafness-hand syndrome
ORPHA:1529: CDHS
ORPHA:1529: Craniofacial-hearing loss-hand syndrome
ORPHA:1529: Sommer-Young-Wee-Frye syndrome
ORPHA:1531: Craniosynostosis
ORPHA:1532: Gómez-López-Hernández syndrome
ORPHA:1532: Cerebellotrigeminal-dermal dysplasia syndrome
ORPHA:1532: Craniosynostosis-alopecia-brain defect syndrome
ORPHA:1538: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
ORPHA:1538: Braddock-Jones-Superneau syndrome
ORPHA:154: Familial isolated dilated cardiomyopathy
ORPHA:154: Familial or idiopathic dilated cardiomyopathy
ORPHA:1540: Jackson-Weiss syndrome
ORPHA:1540: Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
ORPHA:1540: JWS
ORPHA:1541: Craniosynostosis, Boston type
ORPHA:1541: Craniosynostosis, Warman type
ORPHA:1541: Warman-Mulliken-Hayward syndrome
ORPHA:1544: Benign focal seizures of adolescence
ORPHA:1544: Adolescent benign focal crisis
ORPHA:1545: Crisponi syndrome
ORPHA:1546: Cryptococcosis
ORPHA:1547: Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
ORPHA:1547: Cryptomicrotia-brachydactyly syndrome
ORPHA:1547: Tonoki-Ohura-Niikawa syndrome
ORPHA:1548: Cryptorchidism-arachnodactyly-intellectual disability syndrome
ORPHA:1548: Van Benthem-Driessen-Hanveld syndrome
ORPHA:1551: Familial benign copper deficiency
ORPHA:1551: Familial benign hypocupremia
ORPHA:1552: Currarino syndrome
ORPHA:1552: Currarino triad
ORPHA:1553: Curry-Jones syndrome
ORPHA:1553: Corpus callosum agenesis-polysyndactyly syndrome
ORPHA:1555: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
ORPHA:1555: Beare-Stevenson cutis gyrata syndrome
ORPHA:1556: Cutis marmorata telangiectatica congenita
ORPHA:1556: CMTC
ORPHA:155832: Rare head and neck malformation
ORPHA:155835: Cysts and fistulae of the face and oral cavity
ORPHA:155838: Pinnae fistula or cyst
ORPHA:155867: Paramedian facial cleft
ORPHA:155867: Tessier number 1-1 and 2-12 facial cleft
ORPHA:155878: Submucosal cleft palate
ORPHA:155884: Coloboma of superior eyelid
ORPHA:155884: Superior palpebral coloboma
ORPHA:155889: Coloboma of inferior eyelid
ORPHA:155889: Inferior palpebral coloboma
ORPHA:155896: Otomandibular dysplasia
ORPHA:155899: Mandibulofacial dysostosis
ORPHA:155899: Bilateral and symmetric oto-mandibular dysplasia
ORPHA:156: Carnitine palmitoyl transferase 1A deficiency
ORPHA:156: CPT1A deficiency
ORPHA:156: Carnitine palmitoyl transferase IA deficiency
ORPHA:156: Hepatic carnitine palmitoyl transferase 1 deficiency
ORPHA:156: Hepatic carnitine palmitoyl transferase I deficiency
ORPHA:156: L-CPT1 deficiency
ORPHA:156: L-CPTI deficiency
ORPHA:1560: Cysticercosis
ORPHA:156005: Primary early-onset glaucoma
ORPHA:1561: Fatal infantile cytochrome C oxidase deficiency
ORPHA:1561: Fatal infantile COX deficiency
ORPHA:1561: Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency
ORPHA:156140: Predominantly large-vessel vasculitis
ORPHA:156143: Predominantly medium-vessel vasculitis
ORPHA:156146: Predominantly small-vessel vasculitis
ORPHA:156149: Immune complex mediated vasculitis
ORPHA:156152: Anti-neutrophil cytoplasmic antibody-associated vasculitis
ORPHA:156152: AAV
ORPHA:156152: ANCA-associated vasculitis
ORPHA:156152: Antineutrophil cytoplasmic antibody-associated vasculitis
ORPHA:156159: Isolated dystonia
ORPHA:156159: Pure dystonia
ORPHA:156162: Renal ciliopathy
ORPHA:156165: Retinal ciliopathy
ORPHA:156168: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
ORPHA:156168: Retinal ciliopathy due to mutation in RP1 gene
ORPHA:156171: Retinal ciliopathy due to mutation in the RPGR gene
ORPHA:156174: Retinal ciliopathy due to mutation in the RPGRIP gene
ORPHA:156177: Retinal ciliopathy due to mutation in Usher gene
ORPHA:156180: Retinal ciliopathy due to mutation in nephronophthisis gene
ORPHA:156183: Retinal ciliopathy due to mutation in Bardet-Biedl gene
ORPHA:156202: Otomandibular dysplasia associated with monogenic syndromes
ORPHA:156207: Macroglossia
ORPHA:156212: Hypoglossia/aglossia
ORPHA:156215: Oromandibular-limb anomalies syndrome
ORPHA:156224: Paralytic facial malformation
ORPHA:156230: Facial arteriovenous malformation
ORPHA:156237: Syndrome or malformation associated with head and neck malformations
ORPHA:156243: Pinnae and external auditory canal anomaly
ORPHA:156246: Nose and cavum anomaly
ORPHA:156249: Larynx anomaly
ORPHA:156252: Tracheal anomaly
ORPHA:1563: Dahlberg-Borer-Newcomer syndrome
ORPHA:1563: Dahlberg syndrome
ORPHA:1563: Lymphedema-hypoparathyroidism syndrome
ORPHA:156532: Rare syndrome with cardiac malformations
ORPHA:1566: Dandy-Walker malformation-postaxial polydactyly syndrome
ORPHA:1566: DWM with postaxial polydactyly
ORPHA:1566: Pierquin syndrome
ORPHA:156601: Rare genetic hepatic disease
ORPHA:156604: Genetic parenchymatous liver disease
ORPHA:156607: Genetic biliary tract disease
ORPHA:156610: Rare genetic respiratory disease
ORPHA:156619: Rare genetic urogenital disease
ORPHA:156622: Genetic urogenital tract malformation
ORPHA:156629: Rare genetic cause of hypertension
ORPHA:156638: Rare genetic endocrine disease
ORPHA:156643: Genetic endocrine growth disease
ORPHA:156728: Spondyloepimetaphyseal dysplasia, matrilin-3 type
ORPHA:156728: SEMD, MATN3-related
ORPHA:156728: SEMD, matrilin-3 type
ORPHA:156731: Dyssegmental dysplasia, Rolland-Desbuquois type
ORPHA:1568: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
ORPHA:1568: Pettigrew Syndrome
ORPHA:157: Carnitine palmitoyltransferase II deficiency
ORPHA:157: CPT2
ORPHA:157: CPTII
ORPHA:157: Carnitine palmitoyltransferase deficiency type 2
ORPHA:1570: Symbrachydactyly of hands and feet
ORPHA:1570: De Smet-Fabry-Fryns syndrome
ORPHA:1571: Knobloch syndrome
ORPHA:1571: Knobloch-Layer syndrome
ORPHA:1571: Retinal detachment-occipital encephalocele syndrome
ORPHA:1572: Common variable immunodeficiency
ORPHA:1572: CVID
ORPHA:1572: Idiopathic immunoglobulin deficiency
ORPHA:1572: Primary antibody deficiency
ORPHA:1572: Primary hypogammaglobulinemia
ORPHA:157215: Hereditary hypophosphatemic rickets with hypercalciuria
ORPHA:157215: HHRH
ORPHA:1573: Hypotrichosis with juvenile macular degeneration
ORPHA:1573: HJMD
ORPHA:1573: Hypotrichosis with juvenile macular dystrophy
ORPHA:1574: Retinal degeneration-nanophthalmos-glaucoma syndrome
ORPHA:1574: Mackay-Shek-Carr syndrome
ORPHA:1576: Infantile bilateral striatal necrosis
ORPHA:1576: IBSN
ORPHA:1576: Infantile striatonigral degeneration
ORPHA:1576: Infantile striatonigral necrosis
ORPHA:157713: Congenital or early infantile CACH syndrome
ORPHA:157716: Late infantile CACH syndrome
ORPHA:157719: Juvenile or adult CACH syndrome
ORPHA:157769: Situs ambiguus
ORPHA:157769: Incomplete situs inversus
ORPHA:157769: Partial situs inversus
ORPHA:157769: Situs ambiguous
ORPHA:157791: Epithelioid hemangioendothelioma
ORPHA:157794: Hereditary mixed polyposis syndrome
ORPHA:157794: HMPS
ORPHA:157798: Serrated polyposis syndrome
ORPHA:157798: Hyperplastic polyposis syndrome
ORPHA:1578: Pterin-4 alpha-carbinolamine dehydratase deficiency
ORPHA:1578: Hyperphenylalaninemia due to dehydratase deficiency
ORPHA:1578: Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
ORPHA:1578: Hyperphenylalaninemia with primapterinuria
ORPHA:157801: Mesoaxial synostotic syndactyly with phalangeal reduction
ORPHA:157801: MSSD
ORPHA:157801: Syndactyly type 9
ORPHA:157801: Syndactyly, Malik-Percin type
ORPHA:157808: Isolated pseudoarthrosis of the limbs
ORPHA:157808: Congenital pseudoarthrosis of the limbs
ORPHA:157808: Isolated congenital pseudarthrosis of the limbs
ORPHA:157820: Cold-induced sweating syndrome
ORPHA:157820: CISS
ORPHA:157823: Klüver-Bucy syndrome
ORPHA:157826: Congenital epulis
ORPHA:157826: Congenital gingival cell tumor
ORPHA:157826: Congenital granular cell tumor
ORPHA:157826: Neumann tumor
ORPHA:157832: Craniorhiny
ORPHA:157835: Paroxysmal hemicrania
ORPHA:157843: Trigeminal autonomic cephalalgia
ORPHA:157846: Neuroferritinopathy
ORPHA:157846: Adult basal ganglia disease
ORPHA:157846: Ferritin-related neurodegeneration
ORPHA:157846: Hereditary ferritinopathy
ORPHA:157850: Pantothenate kinase-associated neurodegeneration
ORPHA:157850: Hallervorden-Spatz syndrome
ORPHA:157850: NBIA1
ORPHA:157850: Neurodegeneration with brain iron accumulation type 1
ORPHA:157850: PKAN
ORPHA:157941: Huntington disease-like 1
ORPHA:157941: Early-onset prion disease with prominent psychiatric features
ORPHA:157941: HDL1
ORPHA:157946: Huntington disease-like 3
ORPHA:157946: HDL3
ORPHA:157949: Combined immunodeficiency with granulomatosis
ORPHA:157949: CID due to RAG 1/2 deficiency
ORPHA:157949: Combined immunodeficiency due to RAG 1/2 deficiency
ORPHA:157954: ANE syndrome
ORPHA:157954: Alopecia-progressive neurological defect-endocrinopathy syndrome
ORPHA:157962: Oculoauricular syndrome, Schorderet type
ORPHA:157965: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:157965: SCD-EDS
ORPHA:157965: SLC39A13-related spEDS
ORPHA:157965: SLC39A13-related spondylodysplastic EDS
ORPHA:157965: Spondylocheirodysplastic Ehlers-Danlos syndrome
ORPHA:157965: spEDS-SLC39A13
ORPHA:157973: Congenital muscular dystrophy due to LMNA mutation
ORPHA:157973: L-CMD
ORPHA:157973: LMNA-related congenital muscular dystrophy
ORPHA:157987: Non-Langerhans cell histiocytosis
ORPHA:157991: Generalized eruptive histiocytosis
ORPHA:157991: Generalized eruptive histiocytoma
ORPHA:157997: Benign cephalic histiocytosis
ORPHA:158: Systemic primary carnitine deficiency
ORPHA:158: CDSP
ORPHA:158: CUD
ORPHA:158: Carnitine transporter defect
ORPHA:158: Carnitine uptake deficiency
ORPHA:158: Deficiency of plasma-membrane carnitine transporter
ORPHA:158: SPCD
ORPHA:1580: Distal deletion 10p syndrome
ORPHA:1580: Distal monosomy 10p
ORPHA:1580: Monosomy 10pter
ORPHA:1580: Telomeric deletion 10p
ORPHA:158000: Juvenile xanthogranuloma
ORPHA:158000: JXG
ORPHA:158003: Xanthoma disseminatum
ORPHA:158003: Montgomery syndrome
ORPHA:158008: Papular xanthoma
ORPHA:158011: Necrobiotic xanthogranuloma
ORPHA:158014: Rosaï-Dorfman disease
ORPHA:158014: Destombes-Rosaï-Dorfman disease
ORPHA:158014: Rosaï-Dorfman-Destombes disease
ORPHA:158014: SHML
ORPHA:158014: Sinus histiocytosis with massive lymphadenopathy
ORPHA:158019: Indeterminate cell histiocytosis
ORPHA:158019: Indeterminate dendritic cell neoplasm
ORPHA:158019: Indeterminate dendritic cell tumor
ORPHA:158022: Progressive nodular histiocytosis
ORPHA:158025: Hereditary progressive mucinous histiocytosis
ORPHA:158029: Sea-blue histiocytosis
ORPHA:158032: Hemophagocytic syndrome
ORPHA:158032: HLH
ORPHA:158032: Hemophagocytic lymphohistiocytosis
ORPHA:158038: Primary hemophagocytic lymphohistiocytosis
ORPHA:158038: Genetic HLH
ORPHA:158038: Genetic hemophagocytic lymphohistiocytosis
ORPHA:158038: Primary HLH
ORPHA:158041: Secondary hemophagocytic lymphohistiocytosis
ORPHA:158041: Acquired hemophagocytic lymphohistiocytosis
ORPHA:158041: Reactive hemophagocytic syndrome
ORPHA:158048: Hemophagocytic syndrome associated with an infection
ORPHA:158048: IAHS
ORPHA:158048: VAHS
ORPHA:158048: Virus-associated hemophagocytic syndrome
ORPHA:158057: Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
ORPHA:158061: Macrophage activation syndrome
ORPHA:1581: Non-distal deletion 10q syndrome
ORPHA:1581: Non-distal monosomy 10q
ORPHA:1581: Non-telomeric monosomy 10q
ORPHA:158124: Genetic dementia
ORPHA:158266: Huntington disease-like syndrome
ORPHA:158266: Huntington disease phenocopy syndrome
ORPHA:158300: Rare genetic hematologic disease
ORPHA:158668: Ectodermal dysplasia-skin fragility syndrome
ORPHA:158668: McGrath syndrome
ORPHA:158673: Localized dystrophic epidermolysis bullosa, acral form
ORPHA:158673: Localized DEB, acral form
ORPHA:158676: Localized dystrophic epidermolysis bullosa, nails only
ORPHA:158676: Localized DEB, nails only
ORPHA:158681: Epidermolysis bullosa simplex with circinate migratory erythema
ORPHA:158681: EBS with circinate migratory erythema
ORPHA:158681: EBS-migr
ORPHA:158684: Epidermolysis bullosa simplex with pyloric atresia
ORPHA:158684: EBS with pyloric atresia
ORPHA:158684: EBS-PA
ORPHA:158687: Lethal acantholytic erosive disorder
ORPHA:1587: Monosomy 13q14 syndrome
ORPHA:1587: Del(13)(q14)
ORPHA:1587: Deletion 13q14
ORPHA:158766: Typical urticaria pigmentosa
ORPHA:158769: Plaque-form urticaria pigmentosa
ORPHA:158772: Nodular urticaria pigmentosa
ORPHA:158775: Smoldering systemic mastocytosis
ORPHA:158778: Isolated bone marrow mastocytosis
ORPHA:159: Carnitine-acylcarnitine translocase deficiency
ORPHA:159: CACT deficiency
ORPHA:1590: Distal deletion 13q syndrome
ORPHA:1590: 13q32 deletion
ORPHA:1590: Deletion 13q32
ORPHA:1590: Distal monosomy 13q
ORPHA:1590: Monosomy 13q32
ORPHA:1590: Telomeric deletion 13q
ORPHA:1596: Distal deletion 15q syndrome
ORPHA:1596: 15q26 deletion syndrome
ORPHA:1596: Distal monosomy 15q
ORPHA:1596: Monosomy 15q26
ORPHA:1596: Telomeric 15q deletion syndrome
ORPHA:1597: Distal deletion 17q syndrome
ORPHA:1597: Distal monosomy 17q
ORPHA:1597: Monosomy 17qter
ORPHA:1597: Telomeric deletion 17q
ORPHA:1598: Monosomy 18p syndrome
ORPHA:1598: 18p- syndrome
ORPHA:1598: De Grouchy syndrome type 1
ORPHA:16: Blue cone monochromatism
ORPHA:16: Atypical X-linked achromatopsia
ORPHA:16: Blue cone monochromacy
ORPHA:16: Color blindness, blue monocone monochromatic type
ORPHA:16: S cone monochromacy
ORPHA:16: S cone monochromatism
ORPHA:16: X-linked incomplete achromatopsia
ORPHA:160: Castleman disease
ORPHA:160: Angiofollicular ganglionic hyperplasia
ORPHA:160: Angiofollicular lymph hyperplasia
ORPHA:1600: Monosomy 18q syndrome
ORPHA:1600: 18q deletion syndrome
ORPHA:1600: 18q- syndrome
ORPHA:1600: De Grouchy syndrome type 2
ORPHA:1600: Deletion 18q
ORPHA:160148: Cap polyposis
ORPHA:160148: Cap inflammatory polyposis
ORPHA:160148: Eroded polypoid hyperplasia
ORPHA:160148: Inflammatory myoglandular polyps
ORPHA:160148: Polypoid prolapsing folds
ORPHA:1606: 1p36 deletion syndrome
ORPHA:1606: Del(1)(p36)
ORPHA:1606: Deletion 1p36
ORPHA:1606: Deletion 1pter
ORPHA:1606: Monosomy 1p36
ORPHA:1606: Monosomy 1pter
ORPHA:1606: Subtelomeric 1p36 deletion
ORPHA:1617: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
ORPHA:1617: Del(2)(q24)
ORPHA:1617: Monosomy 2q24
ORPHA:162: Congenital cataract-anterior segment dysgenesis syndrome
ORPHA:162: Congenital cataract-ASD syndrome
ORPHA:162: Congenital cataract-ASGD syndrome