TaoMedAI/RareMedData huggingface dataset:
ORPHA:171 — Primary sclerosing cholangitis (OMIM: OMIM:602114, OMIM:613806)
ORPHA:1713 — 17p11.2 microduplication syndrome (OMIM: OMIM:610883)
ORPHA:171430 — Severe congenital nemaline myopathy (OMIM: OMIM:615348, OMIM:161800, OMIM:256030, OMIM:615731, OMIM:616165)
ORPHA:171433 — Intermediate nemaline myopathy (OMIM: OMIM:609284, OMIM:256030, OMIM:615731, OMIM:161800)
ORPHA:171436 — Typical nemaline myopathy (OMIM: OMIM:161800, OMIM:610687, OMIM:609285, OMIM:256030, OMIM:615731, OMIM:616165)
ORPHA:171439 — Childhood-onset nemaline myopathy (OMIM: OMIM:161800, OMIM:609285, OMIM:609284, OMIM:256030, OMIM:609273, OMIM:615731, OMIM:617336)
ORPHA:171445 — Muscle filaminopathy (OMIM: OMIM:609524)
ORPHA:171607 — X-linked spastic paraplegia type 34 (OMIM: OMIM:300750)
ORPHA:171612 — Autosomal dominant spastic paraplegia type 37 (OMIM: OMIM:611945)
ORPHA:171617 — Autosomal dominant spastic paraplegia type 38 (OMIM: OMIM:612335)
ORPHA:171622 — Autosomal recessive spastic paraplegia type 32 (OMIM: OMIM:611252)
ORPHA:171629 — Autosomal recessive spastic paraplegia type 35 (OMIM: OMIM:612319)
ORPHA:171680 — Lissencephaly due to TUBA1A mutation (OMIM: OMIM:611603)
ORPHA:171690 — Metabolic myopathy due to lactate transporter defect (OMIM: OMIM:245340)
ORPHA:171695 — Parkinsonian-pyramidal syndrome (OMIM: OMIM:168100, OMIM:168601, OMIM:260300)
ORPHA:171700 — Diffuse panbronchiolitis (OMIM: OMIM:604809)
ORPHA:171706 — Short stature-delayed bone age due to thyroid hormone metabolism deficiency (OMIM: OMIM:619855, OMIM:620198, OMIM:609698)
ORPHA:171709 — Male infertility due to globozoospermia (OMIM: OMIM:102530, OMIM:613958)
ORPHA:171719 — Cutis laxa-Marfanoid syndrome (OMIM: OMIM:614100)
ORPHA:171723 — White sponge nevus (OMIM: OMIM:193900, OMIM:615785)
ORPHA:171844 — Blindness-scoliosis-arachnodactyly syndrome (OMIM: OMIM:612445)
ORPHA:171848 — Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome (OMIM: OMIM:612674)
ORPHA:171851 — MEDNIK syndrome (OMIM: OMIM:609313)
ORPHA:171863 — Autosomal dominant spastic paraplegia type 42 (OMIM: OMIM:612539)
ORPHA:171866 — Spondyloepimetaphyseal dysplasia, aggrecan type (OMIM: OMIM:612813)
ORPHA:171871 — Renal pseudohypoaldosteronism type 1 (OMIM: OMIM:177735)
ORPHA:171876 — Generalized pseudohypoaldosteronism type 1 (OMIM: OMIM:264350)
ORPHA:171881 — Cap myopathy (OMIM: OMIM:609284, OMIM:609285)
ORPHA:172 — Progressive familial intrahepatic cholestasis (OMIM: OMIM:619662, OMIM:620010, OMIM:619868, OMIM:211600, OMIM:601847, OMIM:602347, OMIM:615878, OMIM:617049, OMIM:619849, OMIM:619484)
ORPHA:1727 — 22q11.2 duplication syndrome (OMIM: OMIM:608363)
ORPHA:174 — Metaphyseal chondrodysplasia, Schmid type (OMIM: OMIM:156500)
ORPHA:175 — Cartilage-hair hypoplasia (OMIM: OMIM:250460, OMIM:250250)
ORPHA:1756 — Caudal duplication (OMIM: OMIM:607864)
ORPHA:1762 — Proximal Xq28 duplication syndrome (OMIM: OMIM:300815, OMIM:300260)
ORPHA:1764 — Familial dysautonomia (OMIM: OMIM:223900)
ORPHA:1766 — Dysequilibrium syndrome (OMIM: OMIM:224050, OMIM:610185, OMIM:613227, OMIM:615268)
ORPHA:177 — Rhizomelic chondrodysplasia punctata (OMIM: OMIM:616716, OMIM:215100, OMIM:222765, OMIM:600121)
ORPHA:1770 — XY type gonadal dysgenesis-associated anomalies syndrome (OMIM: OMIM:233430)
ORPHA:1775 — Dyskeratosis congenita (OMIM: OMIM:620040, OMIM:620133, OMIM:127550, OMIM:224230, OMIM:305000, OMIM:613987, OMIM:613988, OMIM:613989, OMIM:613990, OMIM:615190, OMIM:616353)
ORPHA:1777 — Temtamy syndrome (OMIM: OMIM:218340)
ORPHA:177901 — Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (OMIM: OMIM:615547)
ORPHA:177904 — Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (OMIM: OMIM:615547)
ORPHA:177907 — Prader-Willi syndrome due to translocation (OMIM: OMIM:176270)
ORPHA:177910 — Prader-Willi syndrome due to imprinting mutation (OMIM: OMIM:176270)
ORPHA:177926 — Bleeding disorder in hemophilia A carriers (OMIM: OMIM:306700)
ORPHA:177929 — Bleeding disorder in hemophilia B carriers (OMIM: OMIM:306900)
ORPHA:178 — Chordoma (OMIM: OMIM:215400)
ORPHA:1780 — Thakker-Donnai syndrome (OMIM: OMIM:227255)
ORPHA:178029 — Arginine vasopressin deficiency (OMIM: OMIM:125700, OMIM:304900)
ORPHA:178145 — Moderate multiminicore disease with hand involvement (OMIM: OMIM:117000)
ORPHA:1782 — Dysosteosclerosis (OMIM: OMIM:224300)
ORPHA:178303 — 8q22.1 microdeletion syndrome (OMIM: OMIM:608156)
ORPHA:178307 — Reticulate acropigmentation of Kitamura (OMIM: OMIM:615537)
ORPHA:178333 — Åland Islands eye disease (OMIM: OMIM:300600)
ORPHA:178338 — UV-sensitive syndrome (OMIM: OMIM:600630, OMIM:614621, OMIM:614640)
ORPHA:178345 — Aromatase excess syndrome (OMIM: OMIM:139300)
ORPHA:178355 — Smith-McCort dysplasia (OMIM: OMIM:607326, OMIM:615222)
ORPHA:178364 — Syndromic microphthalmia type 5 (OMIM: OMIM:610125)
ORPHA:178382 — Congenital vertical talus (OMIM: OMIM:192950)
ORPHA:178389 — Osteopetrosis-hypogammaglobulinemia syndrome (OMIM: OMIM:612301)
ORPHA:178396 — Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (OMIM: OMIM:613490)
ORPHA:1784 — Acrofrontofacionasal dysostosis (OMIM: OMIM:201180)
ORPHA:178400 — Distal myopathy with anterior tibial onset (OMIM: OMIM:606768)
ORPHA:178461 — X-linked myopathy with postural muscle atrophy (OMIM: OMIM:300696)
ORPHA:178464 — Hereditary myopathy with early respiratory failure (OMIM: OMIM:603689)
ORPHA:178469 — Autosomal dominant non-syndromic intellectual disability (OMIM: OMIM:617796, OMIM:620157, OMIM:618106, OMIM:156200, OMIM:612580, OMIM:612581, OMIM:613970, OMIM:614113, OMIM:614254, OMIM:614255, OMIM:614256, OMIM:614257, OMIM:614563, OMIM:615828, OMIM:616393, OMIM:616579, OMIM:619188, OMIM:618330, OMIM:617854, OMIM:616977, OMIM:618095, OMIM:617799, OMIM:617798, OMIM:620114)
ORPHA:178506 — Brain calcification, Rajab type (OMIM: OMIM:619013, OMIM:613658)
ORPHA:178509 — Perry syndrome (OMIM: OMIM:168605)
ORPHA:1786 — Acrofacial dysostosis, Catania type (OMIM: OMIM:101805)
ORPHA:1787 — Acrofacial dysostosis, Palagonia type (OMIM: OMIM:601829)
ORPHA:1788 — Acrofacial dysostosis, Rodríguez type (OMIM: OMIM:201170)
ORPHA:179 — Birdshot chorioretinopathy (OMIM: OMIM:605808)
ORPHA:1790 — Hypomandibular faciocranial dysostosis (OMIM: OMIM:241310)
ORPHA:1791 — Frontofacionasal dysplasia (OMIM: OMIM:229400)
ORPHA:179494 — Obesity due to leptin receptor gene deficiency (OMIM: OMIM:614963)
ORPHA:1797 — Autosomal dominant spondylocostal dysostosis (OMIM: OMIM:122600)
ORPHA:1798 — Craniofacial dysostosis-diaphyseal hyperplasia syndrome (OMIM: OMIM:122900)
ORPHA:1799 — Familial developmental dysphasia (OMIM: OMIM:600117)
ORPHA:18 — Distal renal tubular acidosis (OMIM: OMIM:179800, OMIM:267300, OMIM:602722, OMIM:611590)
ORPHA:180 — Choroideremia (OMIM: OMIM:303100)
ORPHA:1801 — Kyphomelic dysplasia (OMIM: OMIM:211350)
ORPHA:180176 — Familial juvenile hypertrophy of the breast (OMIM: OMIM:113670)
ORPHA:180188 — Isolated congenital breast hypoplasia/aplasia (OMIM: OMIM:113700, OMIM:616001)
ORPHA:1802 — Ghosal hematodiaphyseal dysplasia (OMIM: OMIM:231095)
ORPHA:1803 — Thoracomelic dysplasia (OMIM: OMIM:273740)
ORPHA:1806 — Ectodermal dysplasia-blindness syndrome (OMIM: OMIM:268320)
ORPHA:1807 — Focal facial dermal dysplasia type III (OMIM: OMIM:227260)
ORPHA:1808 — Hidrotic ectodermal dysplasia, Christianson-Fourie type (OMIM: OMIM:601375)
ORPHA:181 — X-linked hypohidrotic ectodermal dysplasia (OMIM: OMIM:305100)
ORPHA:1810 — Autosomal dominant hypohidrotic ectodermal dysplasia (OMIM: OMIM:617337, OMIM:129490, OMIM:614940)
ORPHA:1811 — Odontomicronychial dysplasia (OMIM: OMIM:601319)
ORPHA:1812 — Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome (OMIM: OMIM:225040)
ORPHA:181428 — Familial Hyperalphalipoproteinemia (OMIM: OMIM:143470, OMIM:610762, OMIM:614028)
ORPHA:1816 — Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome (OMIM: OMIM:246500)
ORPHA:1818 — Ectodermal dysplasia, trichoodontoonychial type (OMIM: OMIM:129510)
ORPHA:182050 — MYH9-related disease (OMIM: OMIM:155100)
ORPHA:182067 — Glial tumor (OMIM: OMIM:137800, OMIM:607248, OMIM:613028, OMIM:613029, OMIM:613030, OMIM:613031, OMIM:613032, OMIM:613033)
ORPHA:1822 — Dysplasia epiphysealis hemimelica (OMIM: OMIM:127800)
ORPHA:1824 — Lowry-Wood syndrome (OMIM: OMIM:226960)
ORPHA:1826 — Frontometaphyseal dysplasia (OMIM: OMIM:305620, OMIM:617137)
ORPHA:1827 — Acromelic frontonasal dysplasia (OMIM: OMIM:603671)
ORPHA:1830 — Schimke immuno-osseous dysplasia (OMIM: OMIM:242900)
ORPHA:1832 — Osteosclerotic bone dysplasia (OMIM: OMIM:259775)
ORPHA:1836 — Mesomelic dysplasia, Kantaputra type (OMIM: OMIM:156232, OMIM:613681)
ORPHA:183663 — Hyper-IgM syndrome with susceptibility to opportunistic infections (OMIM: OMIM:308230, OMIM:606843)
ORPHA:183666 — Hyper-IgM syndrome without susceptibility to opportunistic infections (OMIM: OMIM:605258, OMIM:608106, OMIM:608184)
ORPHA:183675 — Recurrent infections associated with rare immunoglobulin isotypes deficiency (OMIM: OMIM:614102)
ORPHA:183678 — Hermansky-Pudlak syndrome due to AP-3 deficiency (OMIM: OMIM:608233, OMIM:617050)
ORPHA:1837 — Metaphyseal chondrodysplasia, Rosenberg type (OMIM: OMIM:191420)
ORPHA:183707 — Infantile LAD-like disease due to RAC2 deficiency (OMIM: OMIM:608203, OMIM:618987)
ORPHA:1839 — Hereditary mucoepithelial dysplasia (OMIM: OMIM:158310)
ORPHA:184 — Cherubism (OMIM: OMIM:118400)
ORPHA:1842 — Bone dysplasia, lethal Holmgren type (OMIM: OMIM:211120)
ORPHA:1848 — Renal agenesis, bilateral (OMIM: OMIM:191830, OMIM:619887, OMIM:617805, OMIM:615721)
ORPHA:1852 — X-linked retinal dysplasia (OMIM: OMIM:312550)
ORPHA:1855 — Spondyloenchondrodysplasia (OMIM: OMIM:607944)
ORPHA:1856 — Spondyloperipheral dysplasia-short ulna syndrome (OMIM: OMIM:271700)
ORPHA:1858 — Skeletal dysplasia-epilepsy-short stature syndrome (OMIM: OMIM:601187)
ORPHA:186 — Primary biliary cholangitis (OMIM: OMIM:109720, OMIM:613007, OMIM:613008, OMIM:614220, OMIM:614221)
ORPHA:1860 — Thanatophoric dysplasia type 1 (OMIM: OMIM:187600)
ORPHA:1861 — Thoracic dysplasia-hydrocephalus syndrome (OMIM: OMIM:273730)
ORPHA:1865 — Dyssegmental dysplasia, Silverman-Handmaker type (OMIM: OMIM:224410)
ORPHA:1867 — Hereditary bullous dystrophy, macular type (OMIM: OMIM:302000)
ORPHA:1871 — Progressive cone dystrophy (OMIM: OMIM:180020, OMIM:300085, OMIM:304030, OMIM:602093, OMIM:613093)
ORPHA:1872 — Cone rod dystrophy (OMIM: OMIM:303700, OMIM:120970, OMIM:300476, OMIM:300834, OMIM:304020, OMIM:600624, OMIM:600977, OMIM:601777, OMIM:602093, OMIM:603649, OMIM:604116, OMIM:604393, OMIM:605549, OMIM:619531, OMIM:618555, OMIM:608194, OMIM:610283, OMIM:610381, OMIM:610478, OMIM:612657, OMIM:612775, OMIM:613660, OMIM:614500, OMIM:615163, OMIM:615374, OMIM:615860, OMIM:615973, OMIM:616502)
ORPHA:1873 — Jalili syndrome (OMIM: OMIM:217080)
ORPHA:1875 — Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome (OMIM: OMIM:254000)
ORPHA:1876 — Oculogastrointestinal muscular dystrophy (OMIM: OMIM:277320)
ORPHA:1878 — TRIM32-related limb-girdle muscular dystrophy R8 (OMIM: OMIM:254110)
ORPHA:1879 — Melorheostosis with osteopoikilosis (OMIM: OMIM:166700)
ORPHA:1880 — Ebstein malformation of the tricuspid valve (OMIM: OMIM:224700)
ORPHA:1882 — Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome (OMIM: OMIM:225050)
ORPHA:1883 — Ectodermal dysplasia-sensorineural deafness syndrome (OMIM: OMIM:224800)
ORPHA:1885 — Isolated ectopia lentis (OMIM: OMIM:129600, OMIM:225100, OMIM:225200)
ORPHA:189 — Hidrotic ectodermal dysplasia (OMIM: OMIM:129500)
ORPHA:1891 — Intellectual disability-spasticity-ectrodactyly syndrome (OMIM: OMIM:246555)
ORPHA:1892 — Ectrodactyly-polydactyly syndrome (OMIM: OMIM:225290)
ORPHA:189427 — Cushing syndrome due to bilateral macronodular adrenocortical disease (OMIM: OMIM:219080, OMIM:615954)
ORPHA:189466 — Familial isolated hypoparathyroidism due to impaired PTH secretion (OMIM: OMIM:146200)
ORPHA:1895 — Edinburgh malformation syndrome (OMIM: OMIM:129850)
ORPHA:1896 — EEC syndrome (OMIM: OMIM:129900, OMIM:604292)
ORPHA:1897 — EEM syndrome (OMIM: OMIM:225280)
ORPHA:1899 — Arthrochalasia Ehlers-Danlos syndrome (OMIM: OMIM:130060, OMIM:617821)
ORPHA:190 — Coats disease (OMIM: OMIM:300216)
ORPHA:1900 — Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency (OMIM: OMIM:225400)
ORPHA:1901 — Dermatosparaxis Ehlers-Danlos syndrome (OMIM: OMIM:225410)
ORPHA:1906 — Fetal valproate spectrum disorder (OMIM: OMIM:609442)
ORPHA:191 — Cockayne syndrome (OMIM: OMIM:133540, OMIM:214150, OMIM:216400, OMIM:278780, OMIM:610756, OMIM:610758, OMIM:616570)
ORPHA:1910 — Fetal iodine syndrome (OMIM: OMIM:228355)
ORPHA:192 — Coffin-Lowry syndrome (OMIM: OMIM:303600)
ORPHA:1927 — Emery-Nelson syndrome (OMIM: OMIM:139750)
ORPHA:1928 — Congenital lobar emphysema (OMIM: OMIM:130710)
ORPHA:193 — Cohen syndrome (OMIM: OMIM:216550)
ORPHA:1930 — Herpes simplex virus encephalitis (OMIM: OMIM:610551, OMIM:613002, OMIM:614849, OMIM:614850, OMIM:616532, OMIM:617900)
ORPHA:1933 — Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (OMIM: OMIM:612073)
ORPHA:1934 — Early infantile epileptic encephalopathy (OMIM: OMIM:617493, OMIM:618548, OMIM:619340, OMIM:617599, OMIM:617391, OMIM:617281, OMIM:300672, OMIM:308350, OMIM:609304, OMIM:612164, OMIM:613402, OMIM:613721, OMIM:616341, OMIM:617105, OMIM:617276, OMIM:617389, OMIM:617350)
ORPHA:1937 — Eng-Strom syndrome (OMIM: OMIM:135950)
ORPHA:1941 — Juvenile absence epilepsy (OMIM: OMIM:607631)
ORPHA:1942 — Myoclonic-astatic epilepsy (OMIM: OMIM:615369, OMIM:616421, OMIM:618587)
ORPHA:1945 — Self-limited epilepsy with centrotemporal spikes (OMIM: OMIM:117100, OMIM:245570)
ORPHA:1946 — Amelocerebrohypohidrotic syndrome (OMIM: OMIM:226750)
ORPHA:1947 — Progressive epilepsy-intellectual disability syndrome, Finnish type (OMIM: OMIM:610003)
ORPHA:1948 — Epilepsy-microcephaly-skeletal dysplasia syndrome (OMIM: OMIM:601352)
ORPHA:1949 — Self-limited neonatal epilepsy (OMIM: OMIM:121200, OMIM:121201, OMIM:269720, OMIM:608217)
ORPHA:195 — Cat-eye syndrome (OMIM: OMIM:115470)
ORPHA:1951 — Epilepsy-telangiectasia syndrome (OMIM: OMIM:226850)
ORPHA:1952 — Epiphyseal stippling-osteoclastic hyperplasia syndrome (OMIM: OMIM:167220)
ORPHA:1954 — Congenital lethal erythroderma (OMIM: OMIM:227090)
ORPHA:1955 — Spinocerebellar ataxia type 34 (OMIM: OMIM:133190)
ORPHA:1962 — Exostoses-anetodermia-brachydactyly type E syndrome (OMIM: OMIM:133690)
ORPHA:1964 — Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome (OMIM: OMIM:133750)
ORPHA:1968 — Flat face-microstomia-ear anomaly syndrome (OMIM: OMIM:182150)
ORPHA:1970 — Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome (OMIM: OMIM:220219)
ORPHA:1972 — Lethal faciocardiomelic dysplasia (OMIM: OMIM:227270)
ORPHA:1973 — Faciocardiorenal syndrome (OMIM: OMIM:227280)
ORPHA:1974 — Autosomal recessive faciodigitogenital syndrome (OMIM: OMIM:227330)
ORPHA:1979 — Lipodystrophy due to peptidic growth factors deficiency (OMIM: OMIM:233805)
ORPHA:198 — Occipital horn syndrome (OMIM: OMIM:304150)
ORPHA:1980 — Bilateral striopallidodentate calcinosis (OMIM: OMIM:213600, OMIM:618824, OMIM:615007, OMIM:615483, OMIM:616413)
ORPHA:1986 — Gollop-Wolfgang complex (OMIM: OMIM:228250)
ORPHA:1988 — Femoral-facial syndrome (OMIM: OMIM:134780)
ORPHA:199 — Cornelia de Lange syndrome (OMIM: OMIM:122470, OMIM:300882, OMIM:300590, OMIM:610759, OMIM:614701, OMIM:617126)
ORPHA:199241 — Pulmonary capillary hemangiomatosis (OMIM: OMIM:234810)
ORPHA:199247 — Corticosteroid-binding globulin deficiency (OMIM: OMIM:611489)
ORPHA:199276 — Familial multiple lipomatosis (OMIM: OMIM:151900)
ORPHA:199279 — Familial angiolipomatosis (OMIM: OMIM:206550)
ORPHA:199285 — Hereditary hypercarotenemia and vitamin A deficiency (OMIM: OMIM:115300, OMIM:277350)
ORPHA:199296 — Congenital isolated ACTH deficiency (OMIM: OMIM:201400)
ORPHA:1993 — Pai syndrome (OMIM: OMIM:155145)
ORPHA:199302 — Isolated cleft lip (OMIM: OMIM:129400, OMIM:600757, OMIM:225060, OMIM:608874, OMIM:119530, OMIM:602966, OMIM:608371, OMIM:610361, OMIM:612858)
ORPHA:199306 — Cleft lip/palate (OMIM: OMIM:618149, OMIM:129400, OMIM:608864, OMIM:225060, OMIM:608874, OMIM:613705, OMIM:600625, OMIM:119530, OMIM:600757, OMIM:602966, OMIM:608371, OMIM:610361, OMIM:612858, OMIM:616788)
ORPHA:199315 — Familial clubfoot with or without associated lower limb anomalies (OMIM: OMIM:119800, OMIM:613618)
ORPHA:199318 — 15q13.3 microdeletion syndrome (OMIM: OMIM:612001)
ORPHA:199332 — Endocrine-cerebro-osteodysplasia syndrome (OMIM: OMIM:612651)
ORPHA:199337 — Pancreatic insufficiency-anemia-hyperostosis syndrome (OMIM: OMIM:612714)
ORPHA:199340 — Muscular dystrophy, Selcen type (OMIM: OMIM:612954)
ORPHA:199343 — EAST syndrome (OMIM: OMIM:612780)
ORPHA:199348 — Thiamine-responsive encephalopathy (OMIM: OMIM:607483)
ORPHA:199351 — Adult-onset dystonia-parkinsonism (OMIM: OMIM:612953)
ORPHA:199354 — Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy (OMIM: OMIM:600142)
ORPHA:1997 — Blepharo-cheilo-odontic syndrome (OMIM: OMIM:617681, OMIM:119580)
ORPHA:20 — 3-hydroxy-3-methylglutaric aciduria (OMIM: OMIM:246450)
ORPHA:2001 — Cleft lip/palate-intestinal malrotation-cardiopathy syndrome (OMIM: OMIM:601165)
ORPHA:2004 — Laryngotracheoesophageal cleft (OMIM: OMIM:215800)
ORPHA:200418 — Immunodeficiency with factor I anomaly (OMIM: OMIM:610984)
ORPHA:200421 — Immunodeficiency with factor H anomaly (OMIM: OMIM:609814)
ORPHA:2007 — Alar cartilages hypoplasia-coloboma-telecanthus syndrome (OMIM: OMIM:203000)
ORPHA:2008 — Acrocardiofacial syndrome (OMIM: OMIM:600460)
ORPHA:201 — Cowden syndrome (OMIM: OMIM:158350, OMIM:615108, OMIM:615109, OMIM:615107, OMIM:616858)
ORPHA:2010 — Cleft palate-stapes fixation-oligodontia syndrome (OMIM: OMIM:216300)
ORPHA:2013 — Cleft palate-large ears-small head syndrome (OMIM: OMIM:181180)
ORPHA:2014 — Cleft palate (OMIM: OMIM:119540)
ORPHA:2016 — Cleft palate-lateral synechia syndrome (OMIM: OMIM:119550)
ORPHA:2019 — Femur-fibula-ulna complex (OMIM: OMIM:228200)
ORPHA:2020 — Congenital fiber-type disproportion myopathy (OMIM: OMIM:255310, OMIM:300580, OMIM:617760)
ORPHA:2021 — Fibrochondrogenesis (OMIM: OMIM:228520, OMIM:614524)
ORPHA:2022 — Endocardial fibroelastosis (OMIM: OMIM:226000)
ORPHA:2024 — Hereditary gingival fibromatosis (OMIM: OMIM:135300, OMIM:605544, OMIM:609955, OMIM:611010, OMIM:617626)
ORPHA:2025 — Gingival fibromatosis-facial dysmorphism syndrome (OMIM: OMIM:228560)
ORPHA:2026 — Gingival fibromatosis-hypertrichosis syndrome (OMIM: OMIM:135400)
ORPHA:2027 — Gingival fibromatosis-progressive deafness syndrome (OMIM: OMIM:135550)
ORPHA:2028 — Juvenile hyaline fibromatosis (OMIM: OMIM:228600)
ORPHA:2031 — Hepatic fibrosis-renal cysts-intellectual disability syndrome (OMIM: OMIM:213010)
ORPHA:2032 — Idiopathic pulmonary fibrosis (OMIM: OMIM:178500, OMIM:616371, OMIM:616373, OMIM:614742, OMIM:619611)
ORPHA:2036 — Scalp-ear-nipple syndrome (OMIM: OMIM:181270)
ORPHA:2038 — Pulmonary arteriovenous malformation (OMIM: OMIM:265140)
ORPHA:204 — Sporadic Creutzfeldt-Jakob disease (OMIM: OMIM:123400)
ORPHA:2044 — Floating-Harbor syndrome (OMIM: OMIM:136140)
ORPHA:2047 — Flynn-Aird syndrome (OMIM: OMIM:136300)
ORPHA:205 — Crigler-Najjar syndrome (OMIM: OMIM:218800, OMIM:606785)
ORPHA:2050 — Cole-Carpenter syndrome (OMIM: OMIM:112240, OMIM:616294)
ORPHA:2052 — Fraser syndrome (OMIM: OMIM:617666, OMIM:617667, OMIM:219000)
ORPHA:2053 — Freeman-Sheldon syndrome (OMIM: OMIM:193700, OMIM:277720, OMIM:618436)
ORPHA:2056 — Essential fructosuria (OMIM: OMIM:229800)
ORPHA:2057 — Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (OMIM: OMIM:210745)
ORPHA:2059 — Fryns syndrome (OMIM: OMIM:229850)
ORPHA:2063 — Splenogonadal fusion-limb defects-micrognathia syndrome (OMIM: OMIM:183300)
ORPHA:2064 — Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome (OMIM: OMIM:192800)
ORPHA:206436 — Infantile Krabbe disease (OMIM: OMIM:245200)
ORPHA:206443 — Late-infantile/juvenile Krabbe disease (OMIM: OMIM:245200)
ORPHA:206448 — Adult Krabbe disease (OMIM: OMIM:245200)
ORPHA:206484 — Gonadoblastoma (OMIM: OMIM:424500)
ORPHA:2065 — Galloway-Mowat syndrome (OMIM: OMIM:619609, OMIM:619603, OMIM:617729, OMIM:617730, OMIM:301006, OMIM:617731, OMIM:251300, OMIM:618347, OMIM:618349, OMIM:618348)
ORPHA:206549 — Anoctamin-5-related limb-girdle muscular dystrophy R12 (OMIM: OMIM:611307)
ORPHA:206554 — Fukutin-related limb-girdle muscular dystrophy R13 (OMIM: OMIM:611588)
ORPHA:206559 — POMT2-related limb-girdle muscular dystrophy R14 (OMIM: OMIM:613158)
ORPHA:206564 — POMGNT1-related limb-girdle muscular dystrophy R15 (OMIM: OMIM:613157)
ORPHA:206580 — Autosomal recessive lower motor neuron disease with childhood onset (OMIM: OMIM:611067)
ORPHA:206583 — Adult polyglucosan body disease (OMIM: OMIM:263570)
ORPHA:206599 — Isolated asymptomatic elevation of creatine phosphokinase (OMIM: OMIM:123320)
ORPHA:2066 — Gamma-aminobutyric acid transaminase deficiency (OMIM: OMIM:613163)
ORPHA:2067 — GAPO syndrome (OMIM: OMIM:230740)
ORPHA:2069 — Gastrocutaneous syndrome (OMIM: OMIM:137270)
ORPHA:207 — Crouzon syndrome (OMIM: OMIM:123500)
ORPHA:2072 — Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome (OMIM: OMIM:231005)
ORPHA:2073 — Narcolepsy type 1 (OMIM: OMIM:161400, OMIM:605841, OMIM:609039, OMIM:612417, OMIM:612851, OMIM:614223, OMIM:614250)
ORPHA:2075 — Genitopalatocardiac syndrome (OMIM: OMIM:231060)
ORPHA:2076 — X-linked intellectual disability-epilepsy syndrome (OMIM: OMIM:300088, OMIM:300423, OMIM:300607)
ORPHA:2077 — German syndrome (OMIM: OMIM:231080)
ORPHA:2078 — Geroderma osteodysplastica (OMIM: OMIM:231070)
ORPHA:2083 — Prominent glabella-microcephaly-hypogenitalism syndrome (OMIM: OMIM:247990)
ORPHA:2084 — Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (OMIM: OMIM:608328)
ORPHA:208441 — Bilateral parasagittal parieto-occipital polymicrogyria (OMIM: OMIM:612691)
ORPHA:2085 — Glaucoma-sleep apnea syndrome (OMIM: OMIM:137763)
ORPHA:208513 — Spinocerebellar ataxia type 29 (OMIM: OMIM:117360)
ORPHA:2088 — Fanconi-Bickel syndrome (OMIM: OMIM:227810)
ORPHA:2089 — Glycogen storage disease due to hepatic glycogen synthase deficiency (OMIM: OMIM:240600)
ORPHA:2090 — GMS syndrome (OMIM: OMIM:138770)
ORPHA:2091 — Multinodular goiter-cystic kidney-polydactyly syndrome (OMIM: OMIM:138790)
ORPHA:2092 — Focal dermal hypoplasia (OMIM: OMIM:305600)
ORPHA:209335 — Autosomal dominant adult-onset proximal spinal muscular atrophy (OMIM: OMIM:182980)
ORPHA:209341 — DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy (OMIM: OMIM:158600)
ORPHA:209370 — Severe neonatal-onset encephalopathy with microcephaly (OMIM: OMIM:300673)
ORPHA:2095 — Gorlin-Chaudhry-Moss syndrome (OMIM: OMIM:612289)
ORPHA:2097 — Grant syndrome (OMIM: OMIM:138930)
ORPHA:2098 — Acromesomelic dysplasia, Grebe type (OMIM: OMIM:200700)
ORPHA:209867 — Autosomal dominant rhegmatogenous retinal detachment (OMIM: OMIM:609508)
ORPHA:209905 — Brain-lung-thyroid syndrome (OMIM: OMIM:610978)
ORPHA:209908 — Isolated childhood apraxia of speech (OMIM: OMIM:602081)
ORPHA:209916 — Extraskeletal myxoid chondrosarcoma (OMIM: OMIM:612237)
ORPHA:209919 — Idiopathic copper-associated cirrhosis (OMIM: OMIM:215600)
ORPHA:209932 — Cone dystrophy with supernormal rod response (OMIM: OMIM:610356)
ORPHA:209951 — Autosomal spastic paraplegia type 18 (OMIM: OMIM:611225)
ORPHA:209967 — Episodic ataxia type 6 (OMIM: OMIM:612656)
ORPHA:209970 — Episodic ataxia type 7 (OMIM: OMIM:611907)
ORPHA:209981 — IRIDA syndrome (OMIM: OMIM:206200)
ORPHA:2101 — Grubben-de Cock-Borghgraef syndrome (OMIM: OMIM:233810)
ORPHA:210110 — Intermediate osteopetrosis (OMIM: OMIM:611497)
ORPHA:210115 — Sterile multifocal osteomyelitis with periostitis and pustulosis (OMIM: OMIM:612852)
ORPHA:210122 — Congenital alveolar capillary dysplasia (OMIM: OMIM:265380)
ORPHA:210128 — Urocanic aciduria (OMIM: OMIM:276880)
ORPHA:210141 — Inherited congenital spastic tetraplegia (OMIM: OMIM:617008, OMIM:612900)
ORPHA:210144 — Lethal polymalformative syndrome, Boissel type (OMIM: OMIM:612938)
ORPHA:210159 — Adult hepatocellular carcinoma (OMIM: OMIM:114550)
ORPHA:210163 — Congenital lethal myopathy, Compton-North type (OMIM: OMIM:612540)
ORPHA:2102 — GTP cyclohydrolase I deficiency (OMIM: OMIM:233910)