Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B135df547c82edd67b75076181dd563b7> ?p ?o ?g. }
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- B135df547c82edd67b75076181dd563b7 hasDbXref "Orphanet:367" @default.
- B135df547c82edd67b75076181dd563b7 type Axiom @default.
- B135df547c82edd67b75076181dd563b7 annotatedProperty IAO_0000115 @default.
- B135df547c82edd67b75076181dd563b7 annotatedSource MONDO_0009292 @default.
- B135df547c82edd67b75076181dd563b7 annotatedTarget "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases." @default.