Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4c9df38f1f1e5c2e0d9a849ca8f26cb0> ?p ?o ?g. }
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- B4c9df38f1f1e5c2e0d9a849ca8f26cb0 hasDbXref "NCIT:C150608" @default.
- B4c9df38f1f1e5c2e0d9a849ca8f26cb0 type Axiom @default.
- B4c9df38f1f1e5c2e0d9a849ca8f26cb0 annotatedProperty IAO_0000115 @default.
- B4c9df38f1f1e5c2e0d9a849ca8f26cb0 annotatedSource MONDO_0009712 @default.
- B4c9df38f1f1e5c2e0d9a849ca8f26cb0 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.