All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06380 MTDPS16 Mi DNA depletion syndrome 16 (hepatic type) 618528 AR - - POLG2 - -
01641 MTDPS4A mitochondrial DNA depletion syndrome, type 1 (MTDPS-4A, progressive sclerosing poliodystrophy) 203700 AR 2 1 POLG - -
03384 MTDPS4B mitochondrial DNA depletion syndrome, type 4B (MTDPS-4B, MNGIE type) 613662 AR 1 1 POLG - -
01442 PEOA1 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 1 (PEOA-1) 157640 AD - - POLG - -
02905 PEOA4 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 4 (PEOA-4) 610131 AD - - POLG2 - -
01982 PEOB1 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal recessive, type 1 (PEOB-1) 258450 AR 1 1 POLG - -
00043 SANDO mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 AR - - POLG - -
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