All diseases

4 entries on 1 page. Showing entries 1 - 4.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00031 MTDPS3 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) 251880 0 0 C10orf2, DGUOK - -
00036 MTDPS7 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) 271245 0 0 C10orf2, TWNK - -
00074 PEOA3 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3 609286 0 0 C10orf2, TWNK - -
00042 SANDO Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) 607459 0 0 C10orf2, POLG - -