TaoMedAI/RareMedData huggingface dataset:
ORPHA:98913 — Postsynaptic congenital myasthenic syndromes (OMIM: OMIM:616720, OMIM:616304, OMIM:616313, OMIM:616314, OMIM:616321, OMIM:616322, OMIM:616323, OMIM:616324, OMIM:616325, OMIM:616326, OMIM:254300, OMIM:601462, OMIM:605809, OMIM:608930, OMIM:608931, OMIM:614198, OMIM:615120)
ORPHA:98914 — Presynaptic congenital myasthenic syndromes (OMIM: OMIM:618197, OMIM:618323, OMIM:618198, OMIM:254210, OMIM:615120, OMIM:616040, OMIM:616330, OMIM:616720, OMIM:617143, OMIM:617239)
ORPHA:98915 — Synaptic congenital myasthenic syndromes (OMIM: OMIM:603034)
ORPHA:98916 — Acute inflammatory demyelinating polyradiculoneuropathy (OMIM: OMIM:139393)
ORPHA:98920 — Spinal muscular atrophy with respiratory distress type 1 (OMIM: OMIM:604320)
ORPHA:98934 — Huntington disease-like 2 (OMIM: OMIM:606438)
ORPHA:98938 — Colobomatous microphthalmia (OMIM: OMIM:605738, OMIM:610092, OMIM:611638, OMIM:613703, OMIM:614497, OMIM:615145, OMIM:616428, OMIM:251505, OMIM:300345, OMIM:601186)
ORPHA:98942 — Coloboma of choroid and retina (OMIM: OMIM:120200)
ORPHA:98944 — Coloboma of iris (OMIM: OMIM:120200)
ORPHA:98954 — Meesmann corneal dystrophy (OMIM: OMIM:618767, OMIM:122100)
ORPHA:98955 — Lisch epithelial corneal dystrophy (OMIM: OMIM:620763)
ORPHA:98956 — Epithelial basement membrane dystrophy (OMIM: OMIM:121820)
ORPHA:98957 — Gelatinous drop-like corneal dystrophy (OMIM: OMIM:204870)
ORPHA:98959 — Subepithelial mucinous corneal dystrophy (OMIM: OMIM:612867)
ORPHA:98960 — Thiel-Behnke corneal dystrophy (OMIM: OMIM:602082)
ORPHA:98961 — Reis-Bücklers corneal dystrophy (OMIM: OMIM:608470)
ORPHA:98962 — Granular corneal dystrophy type I (OMIM: OMIM:121900)
ORPHA:98963 — Granular corneal dystrophy type II (OMIM: OMIM:607541)
ORPHA:98964 — Lattice corneal dystrophy type I (OMIM: OMIM:122200, OMIM:608471)
ORPHA:98967 — Schnyder corneal dystrophy (OMIM: OMIM:121800)
ORPHA:98969 — Macular corneal dystrophy (OMIM: OMIM:217800)
ORPHA:98970 — Fleck corneal dystrophy (OMIM: OMIM:121850)
ORPHA:98971 — Posterior amorphous corneal dystrophy (OMIM: OMIM:612868)
ORPHA:98972 — Central cloudy dystrophy of François (OMIM: OMIM:217600)
ORPHA:98973 — Posterior polymorphous corneal dystrophy (OMIM: OMIM:609140, OMIM:609141, OMIM:618031)
ORPHA:98974 — Fuchs endothelial corneal dystrophy (OMIM: OMIM:136800, OMIM:610158, OMIM:613267, OMIM:613268, OMIM:613269, OMIM:613270, OMIM:613271, OMIM:615523)
ORPHA:98976 — Congenital glaucoma (OMIM: OMIM:613086, OMIM:231300, OMIM:600975, OMIM:613085, OMIM:617272)
ORPHA:98977 — Juvenile glaucoma (OMIM: OMIM:137750, OMIM:231300, OMIM:608695, OMIM:608696, OMIM:610535, OMIM:611274)
ORPHA:98978 — Axenfeld anomaly (OMIM: OMIM:601631, OMIM:602482)
ORPHA:98984 — Pulverulent cataract (OMIM: OMIM:116300)
ORPHA:98985 — Early-onset sutural cataract (OMIM: OMIM:600881, OMIM:605728, OMIM:116100)
ORPHA:98988 — Early-onset anterior polar cataract (OMIM: OMIM:601202)
ORPHA:98989 — Cerulean cataract (OMIM: OMIM:115660, OMIM:614422)
ORPHA:98990 — Coralliform cataract (OMIM: OMIM:115800)
ORPHA:98991 — Early-onset nuclear cataract (OMIM: OMIM:600881, OMIM:116400, OMIM:607304, OMIM:609376, OMIM:610019, OMIM:611391)
ORPHA:98992 — Early-onset partial cataract (OMIM: OMIM:116300, OMIM:116400, OMIM:601202, OMIM:605728, OMIM:607304, OMIM:609376, OMIM:610019, OMIM:613763, OMIM:614422, OMIM:115660, OMIM:115800)
ORPHA:98993 — Early-onset posterior polar cataract (OMIM: OMIM:600881, OMIM:613763, OMIM:619593)
ORPHA:98994 — Total early-onset cataract (OMIM: OMIM:601547, OMIM:616509, OMIM:618415)
ORPHA:98995 — Early-onset zonular cataract (OMIM: OMIM:116400, OMIM:605728, OMIM:607304, OMIM:609376, OMIM:610019, OMIM:613763)
ORPHA:990 — Agnathia-holoprosencephaly-situs inversus syndrome (OMIM: OMIM:202650)
ORPHA:99000 — Adult-onset foveomacular vitelliform dystrophy (OMIM: OMIM:153840, OMIM:608161, OMIM:616151, OMIM:616152)
ORPHA:99001 — Butterfly-shaped pigment dystrophy (OMIM: OMIM:169150, OMIM:608970, OMIM:610125)
ORPHA:99002 — Reticular dystrophy of the retinal pigment epithelium (OMIM: OMIM:267800, OMIM:617175, OMIM:179840)
ORPHA:99013 — Spastic paraplegia type 7 (OMIM: OMIM:607259)
ORPHA:99014 — X-linked Charcot-Marie-Tooth disease type 5 (OMIM: OMIM:311070)
ORPHA:99015 — Spastic paraplegia type 2 (OMIM: OMIM:312920)
ORPHA:99027 — Adult-onset autosomal dominant leukodystrophy (OMIM: OMIM:169500)
ORPHA:99051 — Discrete fixed membranous subaortic stenosis (OMIM: OMIM:271950)
ORPHA:99067 — Complete atrioventricular septal defect with ventricular hypoplasia (OMIM: OMIM:615779)
ORPHA:99068 — Complete atrioventricular septal defect-tetralogy of Fallot (OMIM: OMIM:615779)
ORPHA:99092 — Interventricular septum aneurysm (OMIM: OMIM:105805)
ORPHA:991 — PAGOD syndrome (OMIM: OMIM:202660)
ORPHA:99103 — Atrial septal defect, ostium secundum type (OMIM: OMIM:614089, OMIM:614430, OMIM:611363)
ORPHA:99125 — Congenital total pulmonary venous return anomaly (OMIM: OMIM:106700)
ORPHA:99135 — 6-phosphogluconate dehydrogenase deficiency (OMIM: OMIM:619199)
ORPHA:99141 — Lymphedema-posterior choanal atresia syndrome (OMIM: OMIM:613611)
ORPHA:99177 — Isolated distichiasis (OMIM: OMIM:126300)
ORPHA:99179 — Kandori fleck retina (OMIM: OMIM:228990)
ORPHA:99361 — Familial medullary thyroid carcinoma (OMIM: OMIM:155240)
ORPHA:994 — Fetal akinesia deformation sequence (OMIM: OMIM:618975, OMIM:208150, OMIM:300073, OMIM:618393, OMIM:618388, OMIM:618389)
ORPHA:99429 — Complete androgen insensitivity syndrome (OMIM: OMIM:300068)
ORPHA:99642 — Spondyloepimetaphyseal dysplasia, Handigodu type (OMIM: OMIM:613343)
ORPHA:99646 — Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (OMIM: OMIM:614875)
ORPHA:99657 — Primary dystonia, DYT2 type (OMIM: OMIM:224500)
ORPHA:99672 — Fried's tooth and nail syndrome (OMIM: OMIM:602401)
ORPHA:99718 — Leber plus disease (OMIM: OMIM:165200, OMIM:500001)
ORPHA:99725 — Pituitary gigantism (OMIM: OMIM:102200)
ORPHA:99731 — Isolated sulfite oxidase deficiency (OMIM: OMIM:272300)
ORPHA:99732 — Sulfite oxidase deficiency due to molybdenum cofactor deficiency (OMIM: OMIM:252150, OMIM:252160, OMIM:615501)
ORPHA:99734 — Myotonia fluctuans (OMIM: OMIM:608390)
ORPHA:99735 — Myotonia permanens (OMIM: OMIM:608390)
ORPHA:99736 — Acetazolamide-responsive myotonia (OMIM: OMIM:608390)
ORPHA:99741 — King-Denborough syndrome (OMIM: OMIM:619542)
ORPHA:99742 — Amish lethal microcephaly (OMIM: OMIM:607196)
ORPHA:99749 — Kostmann syndrome (OMIM: OMIM:610738)
ORPHA:99750 — Atypical progressive supranuclear palsy syndrome (OMIM: OMIM:260540)
ORPHA:99756 — Alveolar rhabdomyosarcoma (OMIM: OMIM:268220)
ORPHA:99757 — Embryonal rhabdomyosarcoma (OMIM: OMIM:268210)
ORPHA:99772 — Cleft velum (OMIM: OMIM:119570)
ORPHA:99791 — Dentin dysplasia type II (OMIM: OMIM:125420)
ORPHA:99792 — Dentin dysplasia-sclerotic bones syndrome (OMIM: OMIM:125440)
ORPHA:99796 — Subcortical band heterotopia (OMIM: OMIM:300067, OMIM:600348, OMIM:607432)
ORPHA:99797 — Anodontia (OMIM: OMIM:206780)
ORPHA:99798 — Oligodontia (OMIM: OMIM:620173, OMIM:617073, OMIM:616724, OMIM:106600, OMIM:150400, OMIM:313500, OMIM:604625, OMIM:610926)
ORPHA:998 — Albinism-deafness syndrome (OMIM: OMIM:300700)
ORPHA:99803 — Haddad syndrome (OMIM: OMIM:209880)
ORPHA:99806 — Oculootodental syndrome (OMIM: OMIM:166750)
ORPHA:99807 — PEHO-like syndrome (OMIM: OMIM:617507)
ORPHA:99810 — Familial porencephaly (OMIM: OMIM:618360, OMIM:175780, OMIM:614483)
ORPHA:99811 — Neuronal intestinal pseudoobstruction (OMIM: OMIM:243185)
ORPHA:99812 — LIG4 syndrome (OMIM: OMIM:606593)
ORPHA:99818 — Turcot syndrome with polyposis (OMIM: OMIM:175100)
ORPHA:99819 — Familial gestational hyperthyroidism (OMIM: OMIM:603373)
ORPHA:99828 — Dengue fever (OMIM: OMIM:614371)
ORPHA:99832 — Resistance to thyrotropin-releasing hormone syndrome (OMIM: OMIM:618573)
ORPHA:99842 — Leukocyte adhesion deficiency type I (OMIM: OMIM:116920)
ORPHA:99843 — Leukocyte adhesion deficiency type II (OMIM: OMIM:266265)
ORPHA:99844 — Leukocyte adhesion deficiency type III (OMIM: OMIM:612840)
ORPHA:99845 — Genetic recurrent myoglobinuria (OMIM: OMIM:268200, OMIM:550500)
ORPHA:99846 — Autosomal dominant myoglobinuria (OMIM: OMIM:160010)
ORPHA:99849 — Glycogen storage disease due to muscle beta-enolase deficiency (OMIM: OMIM:612932)
ORPHA:99853 — Ovarioleukodystrophy (OMIM: OMIM:603896, OMIM:615889)
ORPHA:99854 — Cree leukoencephalopathy (OMIM: OMIM:603896)
ORPHA:99860 — Precursor B-cell acute lymphoblastic leukemia (OMIM: OMIM:615545)
ORPHA:99865 — Spermatocytic seminoma (OMIM: OMIM:273300)
ORPHA:99867 — Thymoma (OMIM: OMIM:274230)
ORPHA:99879 — Familial isolated hyperparathyroidism (OMIM: OMIM:618883, OMIM:600166, OMIM:145000, OMIM:610071, OMIM:617343)
ORPHA:99880 — Hyperparathyroidism-jaw tumor syndrome (OMIM: OMIM:145001)
ORPHA:99885 — Isolated permanent neonatal diabetes mellitus (OMIM: OMIM:618856, OMIM:606176, OMIM:618858, OMIM:618857)
ORPHA:99886 — Transient neonatal diabetes mellitus (OMIM: OMIM:601410, OMIM:610374, OMIM:610582)
ORPHA:99898 — Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency (OMIM: OMIM:209950)
ORPHA:999 — Ermine phenotype (OMIM: OMIM:227010)
ORPHA:99901 — Acyl-CoA dehydrogenase 9 deficiency (OMIM: OMIM:611126)
ORPHA:99927 — Hydatidiform mole (OMIM: OMIM:231090, OMIM:614293)
ORPHA:99931 — Idiopathic pulmonary hemosiderosis (OMIM: OMIM:178550, OMIM:235500)
ORPHA:99936 — Autosomal dominant Charcot-Marie-Tooth disease type 2B (OMIM: OMIM:600882)
ORPHA:99937 — Autosomal dominant Charcot-Marie-Tooth disease type 2C (OMIM: OMIM:606071)
ORPHA:99938 — Autosomal dominant Charcot-Marie-Tooth disease type 2D (OMIM: OMIM:601472)
ORPHA:99939 — Autosomal dominant Charcot-Marie-Tooth disease type 2E (OMIM: OMIM:607684)
ORPHA:99940 — Autosomal dominant Charcot-Marie-Tooth disease type 2F (OMIM: OMIM:606595)
ORPHA:99941 — Autosomal dominant Charcot-Marie-Tooth disease type 2G (OMIM: OMIM:614436)
ORPHA:99942 — Autosomal dominant Charcot-Marie-Tooth disease type 2I (OMIM: OMIM:607677)
ORPHA:99943 — Autosomal dominant Charcot-Marie-Tooth disease type 2J (OMIM: OMIM:607736)
ORPHA:99944 — Autosomal dominant Charcot-Marie-Tooth disease type 2K (OMIM: OMIM:607831)
ORPHA:99945 — Autosomal dominant Charcot-Marie-Tooth disease type 2L (OMIM: OMIM:608673)
ORPHA:99946 — Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (OMIM: OMIM:118210)
ORPHA:99947 — Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (OMIM: OMIM:609260)
ORPHA:99948 — Charcot-Marie-Tooth disease type 4A (OMIM: OMIM:214400)
ORPHA:99949 — Charcot-Marie-Tooth disease type 4C (OMIM: OMIM:601596)
ORPHA:99950 — Charcot-Marie-Tooth disease type 4D (OMIM: OMIM:601455)
ORPHA:99951 — Charcot-Marie-Tooth disease type 4E (OMIM: OMIM:605253)
ORPHA:99952 — Charcot-Marie-Tooth disease type 4F (OMIM: OMIM:614895)
ORPHA:99953 — Charcot-Marie-Tooth disease type 4G (OMIM: OMIM:605285)
ORPHA:99954 — Charcot-Marie-Tooth disease type 4H (OMIM: OMIM:609311)
ORPHA:99955 — Charcot-Marie-Tooth disease type 4B1 (OMIM: OMIM:601382)
ORPHA:99956 — Charcot-Marie-Tooth disease type 4B2 (OMIM: OMIM:604563)
ORPHA:99960 — Benign recurrent intrahepatic cholestasis type 1 (OMIM: OMIM:243300)
ORPHA:99961 — Benign recurrent intrahepatic cholestasis type 2 (OMIM: OMIM:605479)
ORPHA:99966 — Atypical teratoid rhabdoid tumor (OMIM: OMIM:609322)
ORPHA:99967 — Myxoid/round cell liposarcoma (OMIM: OMIM:613488)
ORPHA:99976 — Adenocarcinoma of the esophagus (OMIM: OMIM:614266)
ORPHA:99977 — Squamous cell carcinoma of the esophagus (OMIM: OMIM:133239)
ORPHA:99995 — Complex regional pain syndrome type 1 (OMIM: OMIM:604335)