All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04664 HMSN6B neuropathy, motor and sensory, hereditary, type VIB (HMSN-6B) 616505 AR - - SLC25A46 - -
06442 MECREN Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 AR - - SLC25A42 - -
03936 MTDPS12 mitochondrial DNA depletion syndrome, type 12 (MTDPS-12, cardiomyopathic type) 615418 AR - - SLC25A4 - -
06622 MTDPS12A Mi DNA depletion syndrome 12A (cardiomyopathic type) AD 617184 AD - - SLC25A4 - -
02839 PEOA2 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 2 (PEOA-2) 609283 AD - - SLC25A4 - -
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