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- B8540b9b84d080db712ca9d76426507fa hasDbXref "NCIT:C150608" @default.
- B8540b9b84d080db712ca9d76426507fa type Axiom @default.
- B8540b9b84d080db712ca9d76426507fa annotatedProperty IAO_0000115 @default.
- B8540b9b84d080db712ca9d76426507fa annotatedSource MONDO_0009712 @default.
- B8540b9b84d080db712ca9d76426507fa annotatedTarget "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity." @default.