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- Bff9713f0d7e84e2f3ec68b4da15a6849 hasDbXref "Orphanet:55596" @default.
- Bff9713f0d7e84e2f3ec68b4da15a6849 type Axiom @default.
- Bff9713f0d7e84e2f3ec68b4da15a6849 annotatedProperty IAO_0000115 @default.
- Bff9713f0d7e84e2f3ec68b4da15a6849 annotatedSource MONDO_0012193 @default.
- Bff9713f0d7e84e2f3ec68b4da15a6849 annotatedTarget "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." @default.