Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be399f0209c5ccaf648f726bff63629ba> ?p ?o ?g. }
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- Be399f0209c5ccaf648f726bff63629ba NCIT_P378 "NCI" @default.
- Be399f0209c5ccaf648f726bff63629ba type Axiom @default.
- Be399f0209c5ccaf648f726bff63629ba annotatedProperty IAO_0000115 @default.
- Be399f0209c5ccaf648f726bff63629ba annotatedSource NCIT_C157504 @default.
- Be399f0209c5ccaf648f726bff63629ba annotatedTarget "An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase." @default.