Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bcc940efb528c96dd8f1cb144dfff1036> ?p ?o ?g. }
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- Bcc940efb528c96dd8f1cb144dfff1036 hasDbXref "Orphanet:329478" @default.
- Bcc940efb528c96dd8f1cb144dfff1036 type Axiom @default.
- Bcc940efb528c96dd8f1cb144dfff1036 annotatedProperty IAO_0000115 @default.
- Bcc940efb528c96dd8f1cb144dfff1036 annotatedSource MONDO_0018006 @default.
- Bcc940efb528c96dd8f1cb144dfff1036 annotatedTarget "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles." @default.