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- B5b597ef05c53eaf9afbb42f2f541c5bd hasDbXref "Orphanet:397937" @default.
- B5b597ef05c53eaf9afbb42f2f541c5bd type Axiom @default.
- B5b597ef05c53eaf9afbb42f2f541c5bd annotatedProperty IAO_0000115 @default.
- B5b597ef05c53eaf9afbb42f2f541c5bd annotatedSource MONDO_0014389 @default.
- B5b597ef05c53eaf9afbb42f2f541c5bd 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.