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- B5510b38f4623d78065d65d647b49f6e8 hasDbXref "Orphanet:55596" @default.
- B5510b38f4623d78065d65d647b49f6e8 type Axiom @default.
- B5510b38f4623d78065d65d647b49f6e8 annotatedProperty IAO_0000115 @default.
- B5510b38f4623d78065d65d647b49f6e8 annotatedSource MONDO_0012193 @default.
- B5510b38f4623d78065d65d647b49f6e8 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.