All diseases

11 entries on 1 page. Showing entries 1 - 11.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00980 - hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH) 238970 AR 15 15 SLC25A15 - -
05803 CMS23 myasthenic syndrome, congenital, type 23, presynaptic (CMS23) 618197 AR - - SLC25A1 - -
02453 CTLN2 citrullinemia, type II (CTLN-2) 603471 AR 64 64 SLC25A13 - -
03847 D2L2AD aciduria, combined d-2- and l-2-hydroxyglutaric (D2L2AD 615182 AR - - SLC25A1 - -
03216 EIEE39 Epileptic encephalopathy, early infantile, 39 612949 AR - - SLC25A12 - -
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
01013 MCPHA microcephaly, Amish type (MCPHA) 607196 AR 1 1 SLC25A19 - -
07003 MTDPS19 mitochondrial DNA depletion syndrome, type 19 618972 AR - - SLC25A10 - -
02564 NICCD citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)) 605814 AR 71 71 SLC25A13 - -
06377 PGL6 Paragangliomas 6 618464 AD - - SLC25A11 - -
01014 THMD4 Thiamine metabolism dysfunction syndrome, type 4 (THMD-4) 613710 AR - - SLC25A19 - -
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