All diseases

9 entries on 1 page. Showing entries 1 - 9.
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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 - 14 14 SLC25A15 - -
03216 - Hypomyelination, global cerebral 612949 - 0 0 SLC25A12 - -
05803 CMS23 myasthenic syndrome, congenital, type 23, presynaptic (CMS23) 618197 AR 0 0 SLC25A1 - -
02453 CTLN-2 citrullinemia, type II (CTLN-2) 603471 - 39 39 SLC25A13 - -
03847 D2L2AD aciduria, combined d-2- and l-2-hydroxyglutaric (D2L2AD 615182 AR 0 0 SLC25A1 - -
00139 ID intellectual disability (ID) - - 1376 1132 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 526 more - -
01013 MCPHA microcephaly, Amish type (MCPHA) 607196 - 1 1 SLC25A19 - -
02564 NICCD citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)) 605814 - 29 29 SLC25A13 - -
01014 THMD-4 Thiamine metabolism dysfunction syndrome, type 4 (THMD-4) 613710 - 0 0 SLC25A19 - -
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