TaoMedAI/RareMedData huggingface dataset:
ORPHA:210548 — Macrocephaly-intellectual disability-autism syndrome (OMIM: OMIM:613926, OMIM:605309)
ORPHA:210571 — Dystonia 16 (OMIM: OMIM:612067)
ORPHA:2107 — Hall-Riggs syndrome (OMIM: OMIM:234250)
ORPHA:2108 — Hallermann-Streiff syndrome (OMIM: OMIM:234100)
ORPHA:211 — Familial cylindromatosis (OMIM: OMIM:132700)
ORPHA:2110 — Hallux varus-preaxial polysyndactyly syndrome (OMIM: OMIM:234280)
ORPHA:211017 — Spinocerebellar ataxia type 30 (OMIM: OMIM:613371)
ORPHA:211067 — Episodic ataxia type 5 (OMIM: OMIM:613855)
ORPHA:2114 — Hip dysplasia, Beukes type (OMIM: OMIM:142669)
ORPHA:2115 — Harrod syndrome (OMIM: OMIM:601095)
ORPHA:2116 — Hartnup disease (OMIM: OMIM:234500)
ORPHA:2117 — Hartsfield syndrome (OMIM: OMIM:615465)
ORPHA:2118 — Hawkinsinuria (OMIM: OMIM:140350)
ORPHA:2119 — HEC syndrome (OMIM: OMIM:600559)
ORPHA:212 — Cystathioninuria (OMIM: OMIM:219500)
ORPHA:2126 — Solitary fibrous tumor (OMIM: OMIM:234820)
ORPHA:2128 — Isolated hemihyperplasia (OMIM: OMIM:235000)
ORPHA:213 — Cystinosis (OMIM: OMIM:219800, OMIM:219900)
ORPHA:2131 — Alternating hemiplegia of childhood (OMIM: OMIM:104290, OMIM:614820)
ORPHA:2134 — Atypical hemolytic uremic syndrome (OMIM: OMIM:615008, OMIM:235400, OMIM:609814, OMIM:612922, OMIM:612923, OMIM:612924, OMIM:612925, OMIM:612926)
ORPHA:2135 — Cutaneous mastocytosis-deafness-microtia syndrome (OMIM: OMIM:248910)
ORPHA:2136 — Hennekam syndrome (OMIM: OMIM:235510, OMIM:616006, OMIM:618154)
ORPHA:2138 — 46,XX ovotesticular difference of sex development (OMIM: OMIM:400045)
ORPHA:214 — Cystinuria (OMIM: OMIM:220100)
ORPHA:2140 — Congenital diaphragmatic hernia (OMIM: OMIM:142340, OMIM:222400, OMIM:306950, OMIM:610187)
ORPHA:2141 — Diaphragmatic defect-limb deficiency-skull defect syndrome (OMIM: OMIM:601163)
ORPHA:2143 — Donnai-Barrow syndrome (OMIM: OMIM:222448)
ORPHA:2148 — Lissencephaly type 1 due to doublecortin gene mutation (OMIM: OMIM:300067)
ORPHA:2149 — Nodular neuronal heterotopia (OMIM: OMIM:300049, OMIM:608097, OMIM:608098, OMIM:612881, OMIM:615544, OMIM:617201)
ORPHA:215 — Congenital stationary night blindness (OMIM: OMIM:617024, OMIM:163500, OMIM:257270, OMIM:300071, OMIM:310500, OMIM:610427, OMIM:610444, OMIM:610445, OMIM:613216, OMIM:613830, OMIM:614565, OMIM:615058, OMIM:616389)
ORPHA:2150 — Hirschsprung disease-type D brachydactyly syndrome (OMIM: OMIM:306980)
ORPHA:2152 — Mowat-Wilson syndrome (OMIM: OMIM:235730)
ORPHA:2153 — Hirschsprung disease-nail hypoplasia-dysmorphism syndrome (OMIM: OMIM:235760)
ORPHA:2155 — Hirschsprung disease-deafness-polydactyly syndrome (OMIM: OMIM:235740)
ORPHA:2157 — Histidinemia (OMIM: OMIM:235800)
ORPHA:2158 — Histidinuria-renal tubular defect syndrome (OMIM: OMIM:235830)
ORPHA:2162 — Holoprosencephaly (OMIM: OMIM:609637, OMIM:610828, OMIM:610829, OMIM:612530, OMIM:614226, OMIM:619895, OMIM:142945, OMIM:142946, OMIM:147250, OMIM:157170, OMIM:236100, OMIM:605934, OMIM:609408)
ORPHA:2163 — Holoprosencephaly-craniosynostosis syndrome (OMIM: OMIM:601370)
ORPHA:2166 — Holoprosencephaly-postaxial polydactyly syndrome (OMIM: OMIM:264480)
ORPHA:2167 — Holzgreve syndrome (OMIM: OMIM:236110)
ORPHA:216796 — Osteogenesis imperfecta type 1 (OMIM: OMIM:166200, OMIM:166230)
ORPHA:216804 — Osteogenesis imperfecta type 2 (OMIM: OMIM:618644, OMIM:166210, OMIM:259440, OMIM:610682, OMIM:610915)
ORPHA:216812 — Osteogenesis imperfecta type 3 (OMIM: OMIM:259420, OMIM:259440, OMIM:610682, OMIM:610915, OMIM:610968, OMIM:613848, OMIM:613982, OMIM:614856, OMIM:615220, OMIM:616229)
ORPHA:216820 — Osteogenesis imperfecta type 4 (OMIM: OMIM:166220, OMIM:259440, OMIM:610682, OMIM:610968, OMIM:613849, OMIM:613982, OMIM:615066, OMIM:615220, OMIM:616507)
ORPHA:216828 — Osteogenesis imperfecta type 5 (OMIM: OMIM:610967)
ORPHA:216866 — Classic pantothenate kinase-associated neurodegeneration (OMIM: OMIM:234200)
ORPHA:216873 — Atypical pantothenate kinase-associated neurodegeneration (OMIM: OMIM:234200)
ORPHA:2169 — Methylcobalamin deficiency type cblE (OMIM: OMIM:236270)
ORPHA:217 — Isolated Dandy-Walker malformation (OMIM: OMIM:220200)
ORPHA:2170 — Methylcobalamin deficiency type cblG (OMIM: OMIM:250940)
ORPHA:217012 — Spinocerebellar ataxia type 31 (OMIM: OMIM:117210)
ORPHA:217017 — Zechi-Ceide syndrome (OMIM: OMIM:612916)
ORPHA:217026 — Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type (OMIM: OMIM:612946)
ORPHA:217055 — Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (OMIM: OMIM:608340)
ORPHA:217059 — Isolated nail clubbing (OMIM: OMIM:119900)
ORPHA:217085 — Mucopolysaccharidosis type 2, severe form (OMIM: OMIM:309900)
ORPHA:217093 — Mucopolysaccharidosis type 2, attenuated form (OMIM: OMIM:309900)
ORPHA:2172 — Microcephaly-glomerulonephritis-marfanoid habitus syndrome (OMIM: OMIM:248760)
ORPHA:217266 — BNAR syndrome (OMIM: OMIM:608980)
ORPHA:217330 — REN-related autosomal dominant tubulointerstitial kidney disease (OMIM: OMIM:613092)
ORPHA:217335 — RIN2 syndrome (OMIM: OMIM:613075)
ORPHA:217340 — 17q21.31 microduplication syndrome (OMIM: OMIM:613533)
ORPHA:217346 — 19q13.11 microdeletion syndrome (OMIM: OMIM:617219, OMIM:613026)
ORPHA:217371 — Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins (OMIM: OMIM:613070)
ORPHA:217377 — Microduplication Xp11.22p11.23 syndrome (OMIM: OMIM:300801)
ORPHA:217382 — Neurodegenerative syndrome due to cerebral folate transport deficiency (OMIM: OMIM:613068)
ORPHA:217385 — 17p13.3 microduplication syndrome (OMIM: OMIM:613215)
ORPHA:217390 — Combined immunodeficiency due to DOCK8 deficiency (OMIM: OMIM:243700)
ORPHA:217396 — Progressive polyneuropathy with bilateral striatal necrosis (OMIM: OMIM:613710)
ORPHA:217407 — Hereditary hypotrichosis with recurrent skin vesicles (OMIM: OMIM:613102)
ORPHA:217467 — Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (OMIM: OMIM:613116)
ORPHA:217563 — Neonatal acute respiratory distress syndrome (OMIM: OMIM:265120)
ORPHA:217566 — Chronic respiratory distress with surfactant metabolism deficiency (OMIM: OMIM:610913)
ORPHA:2176 — Infantile systemic hyalinosis (OMIM: OMIM:228600)
ORPHA:217622 — Sensorineural deafness with dilated cardiomyopathy (OMIM: OMIM:605362)
ORPHA:217656 — Inherited isolated arrhythmogenic cardiomyopathy (OMIM: OMIM:607450, OMIM:609040, OMIM:610193, OMIM:610476, OMIM:611528, OMIM:615616, OMIM:107970, OMIM:600996, OMIM:602086, OMIM:602087, OMIM:604400, OMIM:604401)
ORPHA:2177 — Hydranencephaly (OMIM: OMIM:605013)
ORPHA:218 — Darier disease (OMIM: OMIM:124200)
ORPHA:2180 — Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome (OMIM: OMIM:600991)
ORPHA:2181 — Hydrocephaly-tall stature-joint laxity syndrome (OMIM: OMIM:236660)
ORPHA:2182 — Hydrocephalus with stenosis of the aqueduct of Sylvius (OMIM: OMIM:307000)
ORPHA:2185 — Congenital hydrocephalus (OMIM: OMIM:236600, OMIM:615219)
ORPHA:2189 — Hydrolethalus (OMIM: OMIM:236680, OMIM:614120)
ORPHA:219 — Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 (OMIM: OMIM:601287)
ORPHA:2195 — Dicarboxylic aminoaciduria (OMIM: OMIM:222730)
ORPHA:2196 — Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (OMIM: OMIM:248190)
ORPHA:2197 — Idiopathic hypercalciuria (OMIM: OMIM:143870, OMIM:607258)
ORPHA:2198 — Palmoplantar keratoderma-esophageal carcinoma syndrome (OMIM: OMIM:148500)
ORPHA:2199 — Epidermolytic palmoplantar keratoderma (OMIM: OMIM:144200)
ORPHA:22 — Succinic semialdehyde dehydrogenase deficiency (OMIM: OMIM:271980)
ORPHA:220 — Denys-Drash syndrome (OMIM: OMIM:194080)
ORPHA:2200 — Focal palmoplantar and gingival keratoderma (OMIM: OMIM:148730)
ORPHA:2201 — Palmoplantar keratoderma-spastic paralysis syndrome (OMIM: OMIM:148360)
ORPHA:2202 — Palmoplantar keratoderma-deafness syndrome (OMIM: OMIM:148350)
ORPHA:220295 — Xeroderma pigmentosum-Cockayne syndrome complex (OMIM: OMIM:278730, OMIM:278760, OMIM:278780, OMIM:610651)
ORPHA:2203 — Hyperlysinemia (OMIM: OMIM:238700, OMIM:238710)
ORPHA:220386 — Semilobar holoprosencephaly (OMIM: OMIM:301043, OMIM:157170, OMIM:609637, OMIM:610829)
ORPHA:220402 — Limited cutaneous systemic sclerosis (OMIM: OMIM:181750)
ORPHA:220436 — Quebec platelet disorder (OMIM: OMIM:601709)
ORPHA:220443 — Bleeding diathesis due to thromboxane synthesis deficiency (OMIM: OMIM:614009)
ORPHA:220460 — Attenuated familial adenomatous polyposis (OMIM: OMIM:175100, OMIM:608456, OMIM:612591, OMIM:615083, OMIM:616415)
ORPHA:220465 — Laron syndrome with immunodeficiency (OMIM: OMIM:618985, OMIM:245590)
ORPHA:220493 — Joubert syndrome with ocular defect (OMIM: OMIM:608629, OMIM:614424, OMIM:614464, OMIM:614970, OMIM:617121)
ORPHA:220497 — Joubert syndrome with renal defect (OMIM: OMIM:609583, OMIM:611560, OMIM:614424)
ORPHA:2206 — Ankylosing vertebral hyperostosis with tylosis (OMIM: OMIM:106400)
ORPHA:2209 — Maternal phenylketonuria (OMIM: OMIM:261600)
ORPHA:221008 — Rothmund-Thomson syndrome type 1 (OMIM: OMIM:268400, OMIM:618625)
ORPHA:221016 — Rothmund-Thomson syndrome type 2 (OMIM: OMIM:268400)
ORPHA:221039 — Hereditary sclerosing poikiloderma, Weary type (OMIM: OMIM:173700)
ORPHA:221043 — Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome (OMIM: OMIM:615704)
ORPHA:221046 — Poikiloderma with neutropenia (OMIM: OMIM:604173)
ORPHA:221054 — Acrocephalopolydactyly (OMIM: OMIM:200995)
ORPHA:221061 — Familial cerebral cavernous malformation (OMIM: OMIM:116860, OMIM:603284, OMIM:603285, OMIM:619538)
ORPHA:221091 — Trigeminal neuralgia (OMIM: OMIM:190400)
ORPHA:2211 — Hypertelorism-hypospadias-polysyndactyly syndrome (OMIM: OMIM:239710)
ORPHA:221120 — Pseudoaminopterin syndrome (OMIM: OMIM:600325)
ORPHA:221126 — Fowler vasculopathy (OMIM: OMIM:225790)
ORPHA:221139 — Combined immunodeficiency with facio-oculo-skeletal anomalies (OMIM: OMIM:613328)
ORPHA:221145 — Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (OMIM: OMIM:613177)
ORPHA:2213 — Hypertelorism-microtia-facial clefting syndrome (OMIM: OMIM:239800)
ORPHA:2215 — Multiple pterygium-malignant hyperthermia syndrome (OMIM: OMIM:217150)
ORPHA:2218 — Cervical hypertrichosis-peripheral neuropathy syndrome (OMIM: OMIM:239840)
ORPHA:2220 — Hypertrichosis cubiti (OMIM: OMIM:139600)
ORPHA:2222 — Hypertrichosis lanuginosa congenita (OMIM: OMIM:145700, OMIM:145701, OMIM:307150)
ORPHA:2224 — Hypertryptophanemia (OMIM: OMIM:600627)
ORPHA:2228 — Hypodontia-dysplasia of nails syndrome (OMIM: OMIM:189500)
ORPHA:2229 — Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (OMIM: OMIM:212112)
ORPHA:223 — Arginine vasopressin resistance (OMIM: OMIM:125800, OMIM:304800)
ORPHA:2232 — Primary hypergonadotropic hypogonadism-partial alopecia syndrome (OMIM: OMIM:241090)
ORPHA:2234 — Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome (OMIM: OMIM:307500)
ORPHA:2237 — Hypoparathyroidism-sensorineural deafness-renal disease syndrome (OMIM: OMIM:146255)
ORPHA:2238 — Familial isolated hypoparathyroidism (OMIM: OMIM:615361, OMIM:146200, OMIM:307700, OMIM:601198)
ORPHA:2239 — Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (OMIM: OMIM:307700, OMIM:146200)
ORPHA:2241 — Megacystis-microcolon-intestinal hypoperistalsis syndrome (OMIM: OMIM:619351, OMIM:619362, OMIM:619365, OMIM:619431, OMIM:249210)
ORPHA:2246 — Cerebellar hypoplasia-tapetoretinal degeneration syndrome (OMIM: OMIM:213000)
ORPHA:2248 — Hypoplastic left heart syndrome (OMIM: OMIM:241550, OMIM:614435)
ORPHA:2249 — Ulna hypoplasia-intellectual disability syndrome (OMIM: OMIM:276821)
ORPHA:2250 — Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome (OMIM: OMIM:603457)
ORPHA:2251 — Thumb deformity-alopecia-pigmentation anomaly syndrome (OMIM: OMIM:188150)
ORPHA:225123 — TFR2-related hemochromatosis (OMIM: OMIM:604250)
ORPHA:225154 — Familial infantile bilateral striatal necrosis (OMIM: OMIM:271930, OMIM:500003)
ORPHA:2252 — Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome (OMIM: OMIM:179250)
ORPHA:2253 — Foveal hypoplasia-presenile cataract syndrome (OMIM: OMIM:136520)
ORPHA:2254 — Pontocerebellar hypoplasia type 1 (OMIM: OMIM:619304, OMIM:618065, OMIM:619303, OMIM:607596, OMIM:614678, OMIM:616081)
ORPHA:2255 — Pancreatic hypoplasia-diabetes-congenital heart disease syndrome (OMIM: OMIM:600001)
ORPHA:2256 — Fibulo-ulnar hypoplasia-renal anomalies syndrome (OMIM: OMIM:228940)
ORPHA:2257 — Primary pulmonary hypoplasia (OMIM: OMIM:265430)
ORPHA:226 — Dihydropteridine reductase deficiency (OMIM: OMIM:261630)
ORPHA:2261 — Hypospadias-intellectual disability, Goldblatt type syndrome (OMIM: OMIM:241760)
ORPHA:226316 — Genetic transient congenital hypothyroidism (OMIM: OMIM:607200)
ORPHA:2268 — ICF syndrome (OMIM: OMIM:616911, OMIM:616910, OMIM:242860, OMIM:614069)
ORPHA:2269 — Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome (OMIM: OMIM:242510)
ORPHA:2272 — Ichthyosis-oral and digital anomalies syndrome (OMIM: OMIM:258840)
ORPHA:2273 — Ichthyosis follicularis-alopecia-photophobia syndrome (OMIM: OMIM:308205, OMIM:619016)
ORPHA:2274 — Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome (OMIM: OMIM:242520)
ORPHA:227535 — Hereditary breast cancer (OMIM: OMIM:114480, OMIM:604370, OMIM:612555, OMIM:613399)
ORPHA:227796 — Fundus albipunctatus (OMIM: OMIM:136880)
ORPHA:2278 — Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome (OMIM: OMIM:242530)
ORPHA:227976 — Autosomal recessive optic atrophy, OPA7 type (OMIM: OMIM:612989)
ORPHA:228000 — Idiopathic CD4 lymphocytopenia (OMIM: OMIM:615518)
ORPHA:228003 — Severe combined immunodeficiency due to CORO1A deficiency (OMIM: OMIM:615401)
ORPHA:228012 — Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome (OMIM: OMIM:606346)
ORPHA:228140 — Idiopathic ventricular fibrillation, non Brugada type (OMIM: OMIM:603829, OMIM:612956)
ORPHA:228169 — Autosomal dominant striatal neurodegeneration (OMIM: OMIM:609161)
ORPHA:228174 — Autosomal dominant Charcot-Marie-Tooth disease type 2N (OMIM: OMIM:613287)
ORPHA:228179 — Autosomal dominant Charcot-Marie-Tooth disease type 2M (OMIM: OMIM:606482)
ORPHA:228190 — Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome (OMIM: OMIM:604381)
ORPHA:228302 — Carnitine palmitoyl transferase II deficiency, myopathic form (OMIM: OMIM:255110)
ORPHA:228305 — Carnitine palmitoyl transferase II deficiency, severe infantile form (OMIM: OMIM:600649)
ORPHA:228308 — Carnitine palmitoyl transferase II deficiency, neonatal form (OMIM: OMIM:608836)
ORPHA:228374 — Charcot-Marie-Tooth disease type 2B5 (OMIM: OMIM:607734)
ORPHA:228384 — 5q14.3 microdeletion syndrome (OMIM: OMIM:613443)
ORPHA:228387 — Spondylo-megaepiphyseal-metaphyseal dysplasia (OMIM: OMIM:613330)
ORPHA:228390 — Frontonasal dysplasia-alopecia-genital anomalies syndrome (OMIM: OMIM:613451)
ORPHA:228402 — 2q23.1 microdeletion syndrome (OMIM: OMIM:156200)
ORPHA:228423 — GATA2 deficiency spectrum (OMIM: OMIM:614172)
ORPHA:228426 — Syndromic multisystem autoimmune disease due to Itch deficiency (OMIM: OMIM:613385)
ORPHA:2285 — Primary basilar invagination (OMIM: OMIM:109500)
ORPHA:2287 — Fused mandibular incisors (OMIM: OMIM:147251)
ORPHA:2289 — Neuronal intranuclear inclusion disease (OMIM: OMIM:603472)
ORPHA:229 — Familial aortic dissection (OMIM: OMIM:607086)
ORPHA:2290 — Microvillus inclusion disease (OMIM: OMIM:619445, OMIM:251850)
ORPHA:2291 — Congenital velopharyngeal incompetence (OMIM: OMIM:167500)
ORPHA:2295 — Familial articular hypermobility syndrome (OMIM: OMIM:147900)
ORPHA:2297 — Insulin-resistance syndrome type A (OMIM: OMIM:610549)
ORPHA:229717 — Isolated agammaglobulinemia (OMIM: OMIM:300310, OMIM:300755, OMIM:601495, OMIM:612692, OMIM:613500, OMIM:613501, OMIM:613502, OMIM:613506, OMIM:615214, OMIM:616941)
ORPHA:23 — Argininosuccinic aciduria (OMIM: OMIM:207900)
ORPHA:230 — Dopamine beta-hydroxylase deficiency (OMIM: OMIM:223360)
ORPHA:2300 — Multiple intestinal atresia (OMIM: OMIM:619708, OMIM:243150)
ORPHA:2301 — Congenital short bowel syndrome (OMIM: OMIM:300048, OMIM:615237)
ORPHA:2306 — Isotretinoin-like syndrome (OMIM: OMIM:243440)
ORPHA:2307 — IVIC syndrome (OMIM: OMIM:147750)
ORPHA:2308 — Jacobsen syndrome (OMIM: OMIM:147791)
ORPHA:230839 — Classical-like Ehlers-Danlos syndrome type 1 (OMIM: OMIM:606408)
ORPHA:230851 — Cardiac-valvular Ehlers-Danlos syndrome (OMIM: OMIM:225320)
ORPHA:230857 — Ehlers-Danlos/osteogenesis imperfecta syndrome (OMIM: OMIM:619115, OMIM:619120)
ORPHA:2309 — Pachyonychia congenita (OMIM: OMIM:167200, OMIM:167210, OMIM:260130, OMIM:615726, OMIM:615728)
ORPHA:2310 — Absence deformity of leg-cataract syndrome (OMIM: OMIM:246000)
ORPHA:231013 — Congenital trigeminal anesthesia (OMIM: OMIM:122450)
ORPHA:231031 — Erythema palmare hereditarium (OMIM: OMIM:133000)
ORPHA:231040 — Familial generalized lentiginosis (OMIM: OMIM:151001)
ORPHA:2311 — Autosomal recessive spondylocostal dysostosis (OMIM: OMIM:608681, OMIM:609813, OMIM:277300, OMIM:613686, OMIM:616566)
ORPHA:231108 — Rhabdoid tumor predisposition syndrome (OMIM: OMIM:609322, OMIM:613325)
ORPHA:231120 — Beckwith-Wiedemann syndrome due to CDKN1C mutation (OMIM: OMIM:130650)
ORPHA:231154 — Combined immunodeficiency due to partial RAG1 deficiency (OMIM: OMIM:609889)
ORPHA:231160 — Familial cerebral saccular aneurysm (OMIM: OMIM:618734, OMIM:105800, OMIM:300870, OMIM:608542, OMIM:609122, OMIM:610213, OMIM:611892, OMIM:612161, OMIM:612162, OMIM:612586, OMIM:612587, OMIM:614252)
ORPHA:231169 — Usher syndrome type 1 (OMIM: OMIM:618632, OMIM:614990, OMIM:276900, OMIM:276904, OMIM:601067, OMIM:602083, OMIM:602097, OMIM:606943, OMIM:612632, OMIM:614869)
ORPHA:231178 — Usher syndrome type 2 (OMIM: OMIM:276901, OMIM:605472, OMIM:611383)
ORPHA:231183 — Usher syndrome type 3 (OMIM: OMIM:276902, OMIM:500004, OMIM:614504)
ORPHA:2312 — Transient familial neonatal hyperbilirubinemia (OMIM: OMIM:237900)
ORPHA:231214 — Beta-thalassemia major (OMIM: OMIM:613985)
ORPHA:231222 — Beta-thalassemia intermedia (OMIM: OMIM:613985)
ORPHA:231226 — Dominant beta-thalassemia (OMIM: OMIM:603902)
ORPHA:231237 — Delta-beta-thalassemia (OMIM: OMIM:141749)
ORPHA:231393 — Beta-thalassemia-X-linked thrombocytopenia syndrome (OMIM: OMIM:314050)
ORPHA:2314 — Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency (OMIM: OMIM:147060)
ORPHA:231401 — Alpha-thalassemia-myelodysplastic syndrome (OMIM: OMIM:300448)
ORPHA:2315 — Johanson-Blizzard syndrome (OMIM: OMIM:243800)
ORPHA:231500 — Hermansky-Pudlak syndrome due to BLOC-3 deficiency (OMIM: OMIM:203300, OMIM:614073)
ORPHA:231512 — Hermansky-Pudlak syndrome due to BLOC-2 deficiency (OMIM: OMIM:614072, OMIM:614074, OMIM:614075)
ORPHA:231531 — Hermansky-Pudlak syndrome due to BLOC-1 deficiency (OMIM: OMIM:614171, OMIM:619172, OMIM:614077, OMIM:614076)
ORPHA:231556 — Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome (OMIM: OMIM:226440)
ORPHA:231568 — Autosomal dominant generalized dystrophic epidermolysis bullosa (OMIM: OMIM:131750)
ORPHA:2316 — Johnson neuroectodermal syndrome (OMIM: OMIM:147770)
ORPHA:231662 — Isolated growth hormone deficiency type IA (OMIM: OMIM:262400, OMIM:618160)
ORPHA:231671 — Isolated growth hormone deficiency type IB (OMIM: OMIM:612781)
ORPHA:231679 — Isolated growth hormone deficiency type II (OMIM: OMIM:173100)
ORPHA:231692 — Isolated growth hormone deficiency type III (OMIM: OMIM:307200, OMIM:300123)
ORPHA:231720 — Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (OMIM: OMIM:221750)
ORPHA:2318 — Joubert syndrome with oculorenal defect (OMIM: OMIM:243910, OMIM:608091, OMIM:610188, OMIM:612285, OMIM:614424, OMIM:614465, OMIM:614844)
ORPHA:2319 — Juberg-Hayward syndrome (OMIM: OMIM:216100)
ORPHA:232 — Sickle cell anemia (OMIM: OMIM:603903)
ORPHA:2321 — Jung syndrome (OMIM: OMIM:601427)
ORPHA:2322 — Kabuki syndrome (OMIM: OMIM:147920, OMIM:300867)
ORPHA:2323 — Sanjad-Sakati syndrome (OMIM: OMIM:241410)
ORPHA:2324 — Osteopenia-intellectual disability-sparse hair syndrome (OMIM: OMIM:259690)
ORPHA:2328 — Kapur-Toriello syndrome (OMIM: OMIM:244300)
ORPHA:2329 — Karsch-Neugebauer syndrome (OMIM: OMIM:183800)
ORPHA:233 — Duane retraction syndrome (OMIM: OMIM:126800, OMIM:604356, OMIM:617041, OMIM:616219)
ORPHA:2330 — Kasabach-Merritt phenomenon (OMIM: OMIM:141000)
ORPHA:2331 — Kawasaki disease (OMIM: OMIM:611775)
ORPHA:2332 — KBG syndrome (OMIM: OMIM:148050)
ORPHA:2333 — Kenny-Caffey syndrome (OMIM: OMIM:244460, OMIM:127000)
ORPHA:2334 — Autosomal dominant keratitis (OMIM: OMIM:148190)
ORPHA:2337 — Diffuse palmoplantar keratoderma, Bothnian type (OMIM: OMIM:600231)
ORPHA:2339 — Keratosis follicularis-dwarfism-cerebral atrophy syndrome (OMIM: OMIM:308830)
ORPHA:234 — Dubin-Johnson syndrome (OMIM: OMIM:237500)
ORPHA:2340 — Keratosis follicularis spinulosa decalvans (OMIM: OMIM:308800, OMIM:612843, OMIM:604093)
ORPHA:2342 — Haim-Munk syndrome (OMIM: OMIM:245010)
ORPHA:2345 — Isolated Klippel-Feil syndrome (OMIM: OMIM:118100, OMIM:214300, OMIM:613702)
ORPHA:2346 — Angioosteohypertrophic syndrome (OMIM: OMIM:149000, OMIM:608355, OMIM:608354)
ORPHA:2347 — Lethal Kniest-like dysplasia (OMIM: OMIM:245190)
ORPHA:2348 — Familial partial lipodystrophy, Dunnigan type (OMIM: OMIM:151660)
ORPHA:235 — Dubowitz syndrome (OMIM: OMIM:223370)
ORPHA:2353 — Schilbach-Rott syndrome (OMIM: OMIM:164220)
ORPHA:2356 — Arachnoid cyst (OMIM: OMIM:182990, OMIM:207790)
ORPHA:2363 — Lacrimoauriculodentodigital syndrome (OMIM: OMIM:149730, OMIM:620193, OMIM:620192)
ORPHA:2364 — Glycogen storage disease due to lactate dehydrogenase deficiency (OMIM: OMIM:612933, OMIM:614128)
ORPHA:2368 — Gastroschisis (OMIM: OMIM:230750)
ORPHA:2370 — Larsen-like osseous dysplasia-short stature syndrome (OMIM: OMIM:608545)
ORPHA:2371 — Lethal Larsen-like syndrome (OMIM: OMIM:245650)
ORPHA:2373 — Congenital laryngomalacia (OMIM: OMIM:150280)
ORPHA:2374 — Isolated congenital laryngeal web (OMIM: OMIM:150360)
ORPHA:2375 — Laryngeal abductor paralysis-intellectual disability syndrome (OMIM: OMIM:308850)
ORPHA:2377 — Laurence-Moon syndrome (OMIM: OMIM:245800)
ORPHA:2378 — Laurin-Sandrow syndrome (OMIM: OMIM:135750)
ORPHA:2379 — Early-onset parkinsonism-intellectual disability syndrome (OMIM: OMIM:311510)
ORPHA:2380 — Legg-Calvé-Perthes disease (OMIM: OMIM:150600)
ORPHA:2382 — Lennox-Gastaut syndrome (OMIM: OMIM:618141, OMIM:615369, OMIM:616346, OMIM:617113)
ORPHA:238329 — Severe X-linked mitochondrial encephalomyopathy (OMIM: OMIM:300816)
ORPHA:238446 — 15q11q13 microduplication syndrome (OMIM: OMIM:608636)
ORPHA:238455 — Infantile dystonia-parkinsonism (OMIM: OMIM:613135)
ORPHA:238459 — SLC35A1-CDG (OMIM: OMIM:603585)
ORPHA:238468 — Hypohidrotic ectodermal dysplasia (OMIM: OMIM:129490, OMIM:224900, OMIM:300291, OMIM:305100, OMIM:612132, OMIM:614940, OMIM:614941)
ORPHA:238475 — Familial hypercholanemia (OMIM: OMIM:619232, OMIM:619256, OMIM:607748)
ORPHA:238505 — Combined immunodeficiency due to CD27 deficiency (OMIM: OMIM:615122)
ORPHA:238523 — Atypical hypotonia-cystinuria syndrome (OMIM: OMIM:606407)
ORPHA:238557 — Chuvash erythrocytosis (OMIM: OMIM:263400)
ORPHA:238569 — Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome (OMIM: OMIM:612567, OMIM:613148)
ORPHA:238578 — Familial clubfoot due to 17q23.1q23.2 microduplication (OMIM: OMIM:613618)
ORPHA:238583 — Hyperphenylalaninemia due to tetrahydrobiopterin deficiency (OMIM: OMIM:264070, OMIM:233910, OMIM:261630, OMIM:261640)
ORPHA:238613 — Beckwith-Wiedemann syndrome due to NSD1 mutation (OMIM: OMIM:130650)
ORPHA:238624 — Idiopathic intracranial hypertension (OMIM: OMIM:243200)
ORPHA:238670 — Isolated thyrotropin-releasing hormone deficiency (OMIM: OMIM:275120)
ORPHA:2387 — Leukonychia totalis (OMIM: OMIM:151600)
ORPHA:238722 — Familial congenital mirror movements (OMIM: OMIM:618264, OMIM:157600, OMIM:614508, OMIM:616059)
ORPHA:238744 — Mammary-digital-nail syndrome (OMIM: OMIM:613689)
ORPHA:238750 — 4q21 microdeletion syndrome (OMIM: OMIM:613509)
ORPHA:238763 — Glaucoma secondary to spherophakia/ectopia lentis and megalocornea (OMIM: OMIM:251750)
ORPHA:2388 — Choreoacanthocytosis (OMIM: OMIM:200150)
ORPHA:239 — Dyggve-Melchior-Clausen disease (OMIM: OMIM:223800, OMIM:304950)
ORPHA:2390 — Lichtenstein syndrome (OMIM: OMIM:246550)
ORPHA:2391 — Congenitally short costocoracoid ligament (OMIM: OMIM:122580)