Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc07ec585644cf77cd1b0dc688bf38bac> ?p ?o ?g. }
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- Bc07ec585644cf77cd1b0dc688bf38bac hasDbXref "Orphanet:2597" @default.
- Bc07ec585644cf77cd1b0dc688bf38bac type Axiom @default.
- Bc07ec585644cf77cd1b0dc688bf38bac annotatedProperty IAO_0000115 @default.
- Bc07ec585644cf77cd1b0dc688bf38bac annotatedSource MONDO_0016825 @default.
- Bc07ec585644cf77cd1b0dc688bf38bac annotatedTarget "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." @default.