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- Bea0b5fc539c9354691da7a109d03f0fa hasDbXref "Orphanet:34517" @default.
- Bea0b5fc539c9354691da7a109d03f0fa type Axiom @default.
- Bea0b5fc539c9354691da7a109d03f0fa annotatedProperty IAO_0000115 @default.
- Bea0b5fc539c9354691da7a109d03f0fa annotatedSource MONDO_0018098 @default.
- Bea0b5fc539c9354691da7a109d03f0fa 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.