Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B68bc931ef786380a4695b7071c272ecc> ?p ?o ?g. }
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- B68bc931ef786380a4695b7071c272ecc hasDbXref "Orphanet:79240" @default.
- B68bc931ef786380a4695b7071c272ecc type Axiom @default.
- B68bc931ef786380a4695b7071c272ecc annotatedProperty IAO_0000115 @default.
- B68bc931ef786380a4695b7071c272ecc annotatedSource MONDO_0009868 @default.
- B68bc931ef786380a4695b7071c272ecc annotatedTarget "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency." @default.