Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B22141fa8a90514cf331205b2967b677b> ?p ?o ?g. }
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- B22141fa8a90514cf331205b2967b677b hasDbXref "Orphanet:397937" @default.
- B22141fa8a90514cf331205b2967b677b type Axiom @default.
- B22141fa8a90514cf331205b2967b677b annotatedProperty IAO_0000115 @default.
- B22141fa8a90514cf331205b2967b677b annotatedSource MONDO_0014389 @default.
- B22141fa8a90514cf331205b2967b677b annotatedTarget "A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported." @default.