TaoMedAI/RareMedData huggingface dataset:
ORPHA:459051 — Spondyloepiphyseal dysplasia, Stanescu type (OMIM: OMIM:616583)
ORPHA:459056 — Autosomal recessive spastic paraplegia type 75 (OMIM: OMIM:616680)
ORPHA:459061 — Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome (OMIM: OMIM:620062, OMIM:616901)
ORPHA:459070 — X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (OMIM: OMIM:300998)
ORPHA:46 — Adenylosuccinate lyase deficiency (OMIM: OMIM:103050)
ORPHA:46059 — Lathosterolosis (OMIM: OMIM:607330)
ORPHA:461 — Recessive X-linked ichthyosis (OMIM: OMIM:308100)
ORPHA:46348 — Paroxysmal extreme pain disorder (OMIM: OMIM:167400)
ORPHA:464 — Incontinentia pigmenti (OMIM: OMIM:308300)
ORPHA:464282 — Spastic paraplegia-severe developmental delay-epilepsy syndrome (OMIM: OMIM:616756)
ORPHA:464288 — Short stature-brachydactyly-obesity-global developmental delay syndrome (OMIM: OMIM:617157)
ORPHA:464306 — DYRK1A-related intellectual disability syndrome (OMIM: OMIM:614104)
ORPHA:464311 — Intellectual disability syndrome due to a DYRK1A point mutation (OMIM: OMIM:614104)
ORPHA:464336 — BENTA disease (OMIM: OMIM:616452)
ORPHA:464366 — NEK9-related lethal skeletal dysplasia (OMIM: OMIM:617022)
ORPHA:464440 — Primary dystonia, DYT27 type (OMIM: OMIM:616411)
ORPHA:464443 — COG6-CGD (OMIM: OMIM:614576)
ORPHA:464724 — Fever-associated acute infantile liver failure syndrome (OMIM: OMIM:616483, OMIM:618641)
ORPHA:464738 — Basel-Vanagaite-Smirin-Yosef syndrome (OMIM: OMIM:616449)
ORPHA:464760 — Familial cavitary optic disc anomaly (OMIM: OMIM:611543)
ORPHA:46486 — Mucous membrane pemphigoid (OMIM: OMIM:164185)
ORPHA:465 — Congenital plasminogen activator inhibitor type 1 deficiency (OMIM: OMIM:613329)
ORPHA:46532 — Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (OMIM: OMIM:141749, OMIM:142335, OMIM:142470, OMIM:305435, OMIM:613566)
ORPHA:465508 — Symptomatic form of HFE-related hemochromatosis (OMIM: OMIM:235200)
ORPHA:465824 — Fetal encasement syndrome (OMIM: OMIM:613630)
ORPHA:466 — Fatal familial insomnia (OMIM: OMIM:600072)
ORPHA:466026 — Class I glucose-6-phosphate dehydrogenase deficiency (OMIM: OMIM:300908)
ORPHA:46627 — Char syndrome (OMIM: OMIM:169100)
ORPHA:466688 — Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (OMIM: OMIM:616819)
ORPHA:466703 — TMEM199-CDG (OMIM: OMIM:616829)
ORPHA:466718 — Martinique crinkled retinal pigment epitheliopathy (OMIM: OMIM:617111)
ORPHA:466722 — Autosomal recessive spastic paraplegia type 77 (OMIM: OMIM:617046)
ORPHA:466729 — Familial patent arterial duct (OMIM: OMIM:607411, OMIM:617035, OMIM:617039)
ORPHA:466768 — Autosomal dominant Charcot-Marie-Tooth disease type 2Z (OMIM: OMIM:616688)
ORPHA:466775 — Autosomal recessive Charcot-Marie-Tooth disease type 2X (OMIM: OMIM:616668)
ORPHA:466784 — Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect (OMIM: OMIM:616794)
ORPHA:466791 — Macrocephaly-intellectual disability-left ventricular non compaction syndrome (OMIM: OMIM:300967)
ORPHA:466794 — Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (OMIM: OMIM:616719)
ORPHA:466806 — Autosomal dominant thrombocytopenia with platelet secretion defect (OMIM: OMIM:619130, OMIM:616913)
ORPHA:466926 — Seizures-scoliosis-macrocephaly syndrome (OMIM: OMIM:616682)
ORPHA:466934 — VPS11-related autosomal recessive hypomyelinating leukodystrophy (OMIM: OMIM:616683)
ORPHA:466943 — WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome (OMIM: OMIM:616708)
ORPHA:466950 — Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation (OMIM: OMIM:616708)
ORPHA:467176 — Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome (OMIM: OMIM:616816)
ORPHA:46724 — Cerebral arteriovenous malformation (OMIM: OMIM:108010)
ORPHA:468620 — Intellectual disability-epilepsy-extrapyramidal syndrome (OMIM: OMIM:617171)
ORPHA:468631 — Microcephalic cortical malformations-short stature due to RTTN deficiency (OMIM: OMIM:614833)
ORPHA:468635 — Cryptogenic multifocal ulcerous stenosing enteritis (OMIM: OMIM:618372)
ORPHA:468661 — Autosomal recessive spastic paraplegia type 74 (OMIM: OMIM:616451)
ORPHA:468666 — Isolated generalized anhidrosis with normal sweat glands (OMIM: OMIM:106190)
ORPHA:468672 — Colobomatous macrophthalmia-microcornea syndrome (OMIM: OMIM:602499)
ORPHA:468678 — White-Sutton syndrome (OMIM: OMIM:616364)
ORPHA:468684 — CCDC115-CDG (OMIM: OMIM:616828)
ORPHA:468699 — SLC39A8-CDG (OMIM: OMIM:616721)
ORPHA:468717 — Rhizomelic chondrodysplasia punctata type 5 (OMIM: OMIM:616716)
ORPHA:468726 — Severe primary trimethylaminuria (OMIM: OMIM:602079)
ORPHA:469 — Hereditary fructose intolerance (OMIM: OMIM:229600)
ORPHA:47 — X-linked agammaglobulinemia (OMIM: OMIM:300310, OMIM:300755)
ORPHA:470 — Lysinuric protein intolerance (OMIM: OMIM:222700)
ORPHA:47044 — Hereditary papillary renal cell carcinoma (OMIM: OMIM:605074)
ORPHA:47045 — Familial cold urticaria (OMIM: OMIM:120100)
ORPHA:47159 — Proximal renal tubular acidosis (OMIM: OMIM:179830, OMIM:604278)
ORPHA:474 — Jeune syndrome (OMIM: OMIM:617088, OMIM:611263, OMIM:613819, OMIM:613091, OMIM:614376, OMIM:615633, OMIM:615630, OMIM:619479, OMIM:616300, OMIM:208500)
ORPHA:475 — Joubert syndrome (OMIM: OMIM:608629, OMIM:608091, OMIM:609583, OMIM:610188, OMIM:611560, OMIM:612285, OMIM:300804, OMIM:614465, OMIM:614815, OMIM:615665, OMIM:617767, OMIM:618763, OMIM:619476, OMIM:619562, OMIM:619582, OMIM:619185, OMIM:617120, OMIM:617121, OMIM:617757, OMIM:618161, OMIM:617761, OMIM:213300, OMIM:610688, OMIM:612291, OMIM:614173, OMIM:614424, OMIM:614464, OMIM:614615, OMIM:614970, OMIM:615636, OMIM:616490, OMIM:616654, OMIM:616781, OMIM:616784, OMIM:617622)
ORPHA:476084 — BVES-related limb-girdle muscular dystrophy (OMIM: OMIM:616812)
ORPHA:476096 — Erythrokeratodermia-cardiomyopathy syndrome (OMIM: OMIM:615821)
ORPHA:476113 — Combined immunodeficiency due to TFRC deficiency (OMIM: OMIM:616740)
ORPHA:47612 — Felty syndrome (OMIM: OMIM:134750)
ORPHA:476126 — Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (OMIM: OMIM:617061)
ORPHA:476394 — PMP2-related Charcot-Marie-Tooth disease type 1 (OMIM: OMIM:618279)
ORPHA:477 — KID syndrome (OMIM: OMIM:148210, OMIM:242150, OMIM:602540)
ORPHA:477661 — IL21-related infantile inflammatory bowel disease (OMIM: OMIM:615767)
ORPHA:477673 — Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (OMIM: OMIM:616281)
ORPHA:477684 — Combined oxidative phosphorylation defect type 26 (OMIM: OMIM:616539)
ORPHA:477749 — Pontine autosomal dominant microangiopathy with leukoencephalopathy (OMIM: OMIM:618564)
ORPHA:477774 — Combined oxidative phosphorylation defect type 27 (OMIM: OMIM:616672)
ORPHA:477787 — Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (OMIM: OMIM:618372)
ORPHA:477814 — Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (OMIM: OMIM:616632)
ORPHA:477817 — PMP22-RAI1 contiguous gene duplication syndrome (OMIM: OMIM:616652)
ORPHA:477831 — Kosaki overgrowth syndrome (OMIM: OMIM:616592)
ORPHA:477857 — Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency (OMIM: OMIM:616622)
ORPHA:477993 — Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (OMIM: OMIM:616728)
ORPHA:478 — Kallmann syndrome (OMIM: OMIM:618841, OMIM:616030, OMIM:147950, OMIM:244200, OMIM:308700, OMIM:610628, OMIM:612370, OMIM:612702, OMIM:614837, OMIM:614838, OMIM:614840, OMIM:614858, OMIM:614880, OMIM:614897, OMIM:615266, OMIM:615267, OMIM:615269, OMIM:615270, OMIM:615271)
ORPHA:478029 — Combined oxidative phosphorylation defect type 29 (OMIM: OMIM:616811)
ORPHA:478042 — Combined oxidative phosphorylation defect type 30 (OMIM: OMIM:616974)
ORPHA:478049 — Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome (OMIM: OMIM:617228)
ORPHA:478664 — Hereditary sensory and autonomic neuropathy type 8 (OMIM: OMIM:616488)
ORPHA:48 — Congenital bilateral absence of vas deferens (OMIM: OMIM:277180, OMIM:300985)
ORPHA:480 — Kearns-Sayre syndrome (OMIM: OMIM:530000)
ORPHA:480476 — Progressive familial intrahepatic cholestasis type 5 (OMIM: OMIM:617049)
ORPHA:480483 — Progressive familial intrahepatic cholestasis type 4 (OMIM: OMIM:615878)
ORPHA:480491 — MYO5B-related progressive familial intrahepatic cholestasis (OMIM: OMIM:619868)
ORPHA:480536 — MSH3-related attenuated familial adenomatous polyposis (OMIM: OMIM:617100)
ORPHA:480556 — Isolated neonatal sclerosing cholangitis (OMIM: OMIM:617394)
ORPHA:480682 — POGLUT1-related limb-girdle muscular dystrophy R21 (OMIM: OMIM:617232)
ORPHA:480851 — Hereditary thrombocytopenia with early-onset myelofibrosis (OMIM: OMIM:616937)
ORPHA:480864 — Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (OMIM: OMIM:616878)
ORPHA:480880 — X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (OMIM: OMIM:300968)
ORPHA:480898 — Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (OMIM: OMIM:616875)
ORPHA:480907 — X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (OMIM: OMIM:300966)
ORPHA:481 — Kennedy disease (OMIM: OMIM:313200)
ORPHA:481152 — PYCR2-related microcephaly-progressive leukoencephalopathy (OMIM: OMIM:616420)
ORPHA:481662 — Familial Chilblain lupus (OMIM: OMIM:610448, OMIM:614415)
ORPHA:481665 — USP18 deficiency (OMIM: OMIM:617397)
ORPHA:481986 — Familial schizencephaly (OMIM: OMIM:269160)
ORPHA:482077 — HTRA1-related autosomal dominant cerebral small vessel disease (OMIM: OMIM:616779)
ORPHA:482601 — Adenylosuccinate synthetase-like 1-related distal myopathy (OMIM: OMIM:617030)
ORPHA:483 — Congenital high-molecular-weight kininogen deficiency (OMIM: OMIM:228960)
ORPHA:48431 — Congenital cataracts-facial dysmorphism-neuropathy syndrome (OMIM: OMIM:604168)
ORPHA:485 — Kniest dysplasia (OMIM: OMIM:156550)
ORPHA:485275 — Acquired schizencephaly (OMIM: OMIM:269160)
ORPHA:485350 — CLCN4-related X-linked intellectual disability syndrome (OMIM: OMIM:300114)
ORPHA:485421 — MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (OMIM: OMIM:617086)
ORPHA:486 — Autosomal dominant severe congenital neutropenia (OMIM: OMIM:619813, OMIM:202700, OMIM:257100, OMIM:613107)
ORPHA:48652 — Phelan-McDermid syndrome (OMIM: OMIM:606232)
ORPHA:486811 — Prenatal-onset spinal muscular atrophy with congenital bone fractures (OMIM: OMIM:616866, OMIM:616867)
ORPHA:486815 — Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (OMIM: OMIM:617066)
ORPHA:487 — Krabbe disease (OMIM: OMIM:245200, OMIM:611722)
ORPHA:487796 — Takenouchi-Kosaki syndrome (OMIM: OMIM:616737)
ORPHA:487825 — Pierpont syndrome (OMIM: OMIM:602342)
ORPHA:488168 — Microcephaly-congenital cataract-psoriasiform dermatitis syndrome (OMIM: OMIM:616834)
ORPHA:48818 — Aceruloplasminemia (OMIM: OMIM:604290)
ORPHA:488191 — Female infertility due to oocyte meiotic arrest (OMIM: OMIM:620154, OMIM:617743, OMIM:616780, OMIM:619176, OMIM:619011, OMIM:619009)
ORPHA:488197 — Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (OMIM: OMIM:616722)
ORPHA:488232 — Split-foot malformation-mesoaxial polydactyly syndrome (OMIM: OMIM:616890)
ORPHA:488265 — Osteofibrous dysplasia (OMIM: OMIM:607278)
ORPHA:488280 — 14q32 duplication syndrome (OMIM: OMIM:616604)
ORPHA:488333 — Autosomal dominant Charcot-Marie-Tooth disease type 2W (OMIM: OMIM:616625)
ORPHA:488434 — Camptodactyly syndrome, Guadalajara type 3 (OMIM: OMIM:611929)
ORPHA:488594 — Autosomal recessive spastic paraplegia type 76 (OMIM: OMIM:616907)
ORPHA:488613 — Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (OMIM: OMIM:616973)
ORPHA:488618 — Transketolase deficiency (OMIM: OMIM:617044)
ORPHA:488627 — Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (OMIM: OMIM:617051)
ORPHA:488632 — TBCK-related intellectual disability syndrome (OMIM: OMIM:616900)
ORPHA:488635 — Early-onset epilepsy-intellectual disability-brain anomalies syndrome (OMIM: OMIM:616917)
ORPHA:488642 — TELO2-related intellectual disability-neurodevelopmental disorder (OMIM: OMIM:616954)
ORPHA:488647 — DDX41-related hematologic malignancy predisposition syndrome (OMIM: OMIM:616871)
ORPHA:488650 — Distal myopathy, Tateyama type (OMIM: OMIM:614321)
ORPHA:49041 — IgG4-related retroperitoneal fibrosis (OMIM: OMIM:228800)
ORPHA:493342 — Vibratory urticaria (OMIM: OMIM:125630)
ORPHA:49382 — Achromatopsia (OMIM: OMIM:216900, OMIM:262300, OMIM:610024, OMIM:613093, OMIM:613856, OMIM:616517)
ORPHA:494 — Keratoderma hereditarium mutilans (OMIM: OMIM:124500)
ORPHA:494344 — RERE-related neurodevelopmental syndrome (OMIM: OMIM:616975)
ORPHA:494433 — MIRAGE syndrome (OMIM: OMIM:617053)
ORPHA:494439 — Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome (OMIM: OMIM:617763)
ORPHA:494444 — DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (OMIM: OMIM:124900)
ORPHA:494526 — Infantile-onset generalized dyskinesia with orofacial involvement (OMIM: OMIM:616921)
ORPHA:494541 — Childhood-onset benign chorea with striatal involvement (OMIM: OMIM:616922)
ORPHA:494547 — Squamous cell carcinoma of the hypopharynx (OMIM: OMIM:275355)
ORPHA:494550 — Squamous cell carcinoma of the larynx (OMIM: OMIM:275355)
ORPHA:495 — Transgrediens et progrediens palmoplantar keratoderma (OMIM: OMIM:133200)
ORPHA:495274 — Charcot-Marie-Tooth disease type 2T (OMIM: OMIM:617017)
ORPHA:495844 — C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (OMIM: OMIM:616881)
ORPHA:495875 — Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (OMIM: OMIM:618479)
ORPHA:495930 — Familial monosomy 7 syndrome (OMIM: OMIM:619041, OMIM:252270)
ORPHA:496641 — Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (OMIM: OMIM:617193)
ORPHA:496686 — Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome (OMIM: OMIM:617114)
ORPHA:496693 — Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome (OMIM: OMIM:609545)
ORPHA:496751 — EVEN-plus syndrome (OMIM: OMIM:616854)
ORPHA:496756 — Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (OMIM: OMIM:617207)
ORPHA:496790 — Ocular anomalies-axonal neuropathy-developmental delay syndrome (OMIM: OMIM:617183)
ORPHA:497757 — MME-related autosomal dominant Charcot Marie Tooth disease type 2 (OMIM: OMIM:617017)
ORPHA:497764 — Spinocerebellar ataxia type 43 (OMIM: OMIM:617017)
ORPHA:497906 — Childhood-onset basal ganglia degeneration syndrome (OMIM: OMIM:617054)
ORPHA:49827 — Thiamine-responsive megaloblastic anemia syndrome (OMIM: OMIM:249270)
ORPHA:498485 — Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome (OMIM: OMIM:608811)
ORPHA:498497 — Short rib-polydactyly syndrome type 5 (OMIM: OMIM:614091)
ORPHA:498602 — Sugarman brachydactyly (OMIM: OMIM:272150)
ORPHA:5 — Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (OMIM: OMIM:609016)
ORPHA:50 — Aicardi syndrome (OMIM: OMIM:304050)
ORPHA:500 — Noonan syndrome with multiple lentigines (OMIM: OMIM:151100, OMIM:611554, OMIM:613707)
ORPHA:500055 — Hao-Fountain syndrome due to 16p13.2 microdeletion (OMIM: OMIM:616863)
ORPHA:500062 — Infantile-onset periodic fever-panniculitis-dermatosis syndrome (OMIM: OMIM:617099)
ORPHA:500095 — Tall stature-intellectual disability-renal anomalies syndrome (OMIM: OMIM:617107)
ORPHA:500135 — Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome (OMIM: OMIM:236500)
ORPHA:500144 — Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome (OMIM: OMIM:617669)
ORPHA:500150 — Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (OMIM: OMIM:617140)
ORPHA:500159 — Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (OMIM: OMIM:617751)
ORPHA:500163 — Witteveen-Kolk syndrome (OMIM: OMIM:613406)
ORPHA:500166 — SIN3-related intellectual disability syndrome due to a point mutation (OMIM: OMIM:613406)
ORPHA:500180 — Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (OMIM: OMIM:617672)
ORPHA:500188 — X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome (OMIM: OMIM:301018)
ORPHA:500464 — Squamous cell carcinoma of the nasal cavity and paranasal sinuses (OMIM: OMIM:275355)
ORPHA:500478 — Squamous cell carcinoma of the oropharynx (OMIM: OMIM:275355)
ORPHA:500533 — Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome (OMIM: OMIM:611087)
ORPHA:500545 — Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (OMIM: OMIM:617393)
ORPHA:500548 — Osteosclerotic metaphyseal dysplasia (OMIM: OMIM:615198)
ORPHA:501 — Lafora disease (OMIM: OMIM:254780)
ORPHA:502 — Trichorhinophalangeal syndrome type 2 (OMIM: OMIM:150230)
ORPHA:502363 — Squamous cell carcinoma of the oral cavity (OMIM: OMIM:275355)
ORPHA:502366 — Squamous cell carcinoma of the lip (OMIM: OMIM:275355)
ORPHA:502423 — Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome (OMIM: OMIM:617675)
ORPHA:502430 — Weiss-Kruszka Syndrome (OMIM: OMIM:618619)
ORPHA:502434 — STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (OMIM: OMIM:617635)
ORPHA:502444 — Alkaline ceramidase 3 deficiency (OMIM: OMIM:617762)
ORPHA:50251 — Pleural mesothelioma (OMIM: OMIM:156240)
ORPHA:503 — Larsen syndrome (OMIM: OMIM:150250)
ORPHA:504476 — Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (OMIM: OMIM:614575)
ORPHA:504523 — Severe combined immunodeficiency due to LAT deficiency (OMIM: OMIM:617514)
ORPHA:504530 — Combined immunodeficiency due to Moesin deficiency (OMIM: OMIM:300988)
ORPHA:505208 — 3-methylglutaconic aciduria type 8 (OMIM: OMIM:617248)
ORPHA:505216 — 3-methylglutaconic aciduria type 9 (OMIM: OMIM:617698)
ORPHA:505227 — Combined immunodeficiency due to GINS1 deficiency (OMIM: OMIM:617827)
ORPHA:505237 — Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (OMIM: OMIM:617452)
ORPHA:505242 — Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome (OMIM: OMIM:617595)
ORPHA:505248 — Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (OMIM: OMIM:617303)
ORPHA:505652 — CDKL5-deficiency disorder (OMIM: OMIM:300672)
ORPHA:506 — Leigh syndrome (OMIM: OMIM:256000)
ORPHA:506307 — Stromme syndrome (OMIM: OMIM:243605)
ORPHA:506334 — Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (OMIM: OMIM:617575)
ORPHA:506353 — Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (OMIM: OMIM:618768)
ORPHA:506358 — Gabriele-de Vries syndrome (OMIM: OMIM:617557)
ORPHA:507 — Leishmaniasis (OMIM: OMIM:608207)
ORPHA:508 — Leprechaunism (OMIM: OMIM:246200)
ORPHA:50809 — Talo-patello-scaphoid osteolysis (OMIM: OMIM:609655)
ORPHA:508093 — MEPAN syndrome (OMIM: OMIM:617282)
ORPHA:50811 — Lipodystrophy-intellectual disability-deafness syndrome (OMIM: OMIM:608154)
ORPHA:50814 — Craniolenticulosutural dysplasia (OMIM: OMIM:607812)
ORPHA:50815 — Branchiogenic deafness syndrome (OMIM: OMIM:609166)
ORPHA:508488 — 8q24.3 microdeletion syndrome (OMIM: OMIM:615583)
ORPHA:508498 — Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome (OMIM: OMIM:615583)
ORPHA:508501 — Oral-facial-digital syndrome with short stature and brachymesophalangy (OMIM: OMIM:617927)
ORPHA:508512 — Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome (OMIM: OMIM:618097)
ORPHA:508523 — Hyperphenylalaninemia due to DNAJC12 deficiency (OMIM: OMIM:617384)
ORPHA:508529 — Intermediate epidermolysis bullosa simplex with cardiomyopathy (OMIM: OMIM:617294)
ORPHA:508533 — Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome (OMIM: OMIM:617425)
ORPHA:508542 — Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (OMIM: OMIM:618116)
ORPHA:50942 — Striate palmoplantar keratoderma (OMIM: OMIM:148700, OMIM:607654, OMIM:612908)
ORPHA:50943 — Keratolytic winter erythema (OMIM: OMIM:148370)
ORPHA:50944 — Schöpf-Schulz-Passarge syndrome (OMIM: OMIM:224750)
ORPHA:50945 — Blomstrand lethal chondrodysplasia (OMIM: OMIM:215045)
ORPHA:51 — Aicardi-Goutières syndrome (OMIM: OMIM:225750, OMIM:619486, OMIM:610181, OMIM:610329, OMIM:610333, OMIM:612952, OMIM:615010, OMIM:615846, OMIM:619487)
ORPHA:510 — Lesch-Nyhan syndrome (OMIM: OMIM:300322, OMIM:308950)
ORPHA:51083 — Familial short QT syndrome (OMIM: OMIM:609620, OMIM:609621, OMIM:609622, OMIM:620231)
ORPHA:51084 — Torsade-de-pointes syndrome with short coupling interval (OMIM: OMIM:613600)
ORPHA:511 — Maple syrup urine disease (OMIM: OMIM:615135, OMIM:620698, OMIM:620699, OMIM:248600)
ORPHA:51188 — Ethylmalonic encephalopathy (OMIM: OMIM:602473)
ORPHA:512 — Metachromatic leukodystrophy (OMIM: OMIM:156310, OMIM:249900, OMIM:250100)
ORPHA:51208 — Formiminoglutamic aciduria (OMIM: OMIM:229100)
ORPHA:512260 — Congenital cerebellar ataxia due to RNU12 mutation (OMIM: OMIM:620208)
ORPHA:513 — Acute lymphoblastic leukemia (OMIM: OMIM:247640, OMIM:613065, OMIM:613067)
ORPHA:513436 — Autosomal recessive spastic paraplegia type 78 (OMIM: OMIM:617225)
ORPHA:513456 — Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome (OMIM: OMIM:617616)
ORPHA:51608 — Generalized arterial calcification of infancy (OMIM: OMIM:208000, OMIM:614473)
ORPHA:51636 — WHIM syndrome (OMIM: OMIM:193670)
ORPHA:519 — Acute myeloid leukemia (OMIM: OMIM:601626)
ORPHA:519388 — Autosomal recessive anterior segment dysgenesis (OMIM: OMIM:617319)
ORPHA:52 — Alagille syndrome (OMIM: OMIM:118450, OMIM:610205)
ORPHA:520 — Acute promyelocytic leukemia (OMIM: OMIM:612376)
ORPHA:52022 — Potocki-Shaffer syndrome (OMIM: OMIM:601224)
ORPHA:52047 — Braddock syndrome (OMIM: OMIM:608406)
ORPHA:52054 — Craniosynostosis-intracranial calcifications syndrome (OMIM: OMIM:608432)
ORPHA:52055 — Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (OMIM: OMIM:300472)
ORPHA:52056 — Ulnar/fibula ray defect-brachydactyly syndrome (OMIM: OMIM:608571)
ORPHA:521 — Chronic myeloid leukemia (OMIM: OMIM:608232)
ORPHA:521258 — Xq25 microduplication syndrome (OMIM: OMIM:300979)
ORPHA:521305 — Proximal myopathy with focal depletion of mitochondria (OMIM: OMIM:600706)
ORPHA:521390 — Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome (OMIM: OMIM:617296)
ORPHA:521406 — Dystonia-parkinsonism-hypermanganesemia syndrome (OMIM: OMIM:617013)
ORPHA:521414 — Autosomal dominant Charcot-Marie-Tooth disease type 2DD (OMIM: OMIM:618036)
ORPHA:521426 — PLAA-associated neurodevelopmental disorder (OMIM: OMIM:617527)
ORPHA:521438 — Congenital vertebral-cardiac-renal anomalies syndrome (OMIM: OMIM:618845, OMIM:617660, OMIM:617661)
ORPHA:522077 — Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (OMIM: OMIM:618218)
ORPHA:523 — Hereditary leiomyomatosis and renal cell cancer (OMIM: OMIM:150800)
ORPHA:52368 — Mohr-Tranebjaerg syndrome (OMIM: OMIM:304700)
ORPHA:524 — Li-Fraumeni syndrome (OMIM: OMIM:609265, OMIM:151623)
ORPHA:52417 — MALT lymphoma (OMIM: OMIM:137245)
ORPHA:52427 — Retinitis punctata albescens (OMIM: OMIM:136880)
ORPHA:52429 — Branchiootic syndrome (OMIM: OMIM:120502, OMIM:602588, OMIM:608389)
ORPHA:52430 — Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (OMIM: OMIM:167320, OMIM:615422, OMIM:615424)
ORPHA:52503 — X-linked creatine transporter deficiency (OMIM: OMIM:300352)