Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B76a2e562e14827b6de748b585c8d5f12> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B76a2e562e14827b6de748b585c8d5f12 hasDbXref "Orphanet:329336" @default.
- B76a2e562e14827b6de748b585c8d5f12 type Axiom @default.
- B76a2e562e14827b6de748b585c8d5f12 annotatedProperty IAO_0000115 @default.
- B76a2e562e14827b6de748b585c8d5f12 annotatedSource MONDO_0018002 @default.
- B76a2e562e14827b6de748b585c8d5f12 annotatedTarget "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." @default.