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- B06551211dc36ea1ebad7d43264f84b06 hasDbXref "Orphanet:34516" @default.
- B06551211dc36ea1ebad7d43264f84b06 hasDbXref "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/" @default.
- B06551211dc36ea1ebad7d43264f84b06 type Axiom @default.
- B06551211dc36ea1ebad7d43264f84b06 annotatedProperty IAO_0000115 @default.
- B06551211dc36ea1ebad7d43264f84b06 annotatedSource MONDO_0021018 @default.
- B06551211dc36ea1ebad7d43264f84b06 annotatedTarget "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." @default.