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- B5783e898bfaf8ea49de8d3be97c9fd6a hasDbXref "Orphanet:34517" @default.
- B5783e898bfaf8ea49de8d3be97c9fd6a type Axiom @default.
- B5783e898bfaf8ea49de8d3be97c9fd6a annotatedProperty IAO_0000115 @default.
- B5783e898bfaf8ea49de8d3be97c9fd6a annotatedSource MONDO_0018098 @default.
- B5783e898bfaf8ea49de8d3be97c9fd6a annotatedTarget "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions." @default.