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- Be231a09b8a65fbd2359ac964e8982c2b hasDbXref "NCIT:P378" @default.
- Be231a09b8a65fbd2359ac964e8982c2b type Axiom @default.
- Be231a09b8a65fbd2359ac964e8982c2b annotatedProperty IAO_0000115 @default.
- Be231a09b8a65fbd2359ac964e8982c2b annotatedSource MONDO_0007294 @default.
- Be231a09b8a65fbd2359ac964e8982c2b annotatedTarget "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation." @default.