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- B4b56f56b2bf0d84277cdf2bbe5d047b4 hasDbXref "Orphanet:35698" @default.
- B4b56f56b2bf0d84277cdf2bbe5d047b4 type Axiom @default.
- B4b56f56b2bf0d84277cdf2bbe5d047b4 annotatedProperty IAO_0000115 @default.
- B4b56f56b2bf0d84277cdf2bbe5d047b4 annotatedSource MONDO_0018158 @default.
- B4b56f56b2bf0d84277cdf2bbe5d047b4 annotatedTarget "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome." @default.