Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc07a40fc84b2d4f6e15d2e73e11c6d40> ?p ?o ?g. }
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- Bc07a40fc84b2d4f6e15d2e73e11c6d40 hasDbXref "NCIT:C120046" @default.
- Bc07a40fc84b2d4f6e15d2e73e11c6d40 type Axiom @default.
- Bc07a40fc84b2d4f6e15d2e73e11c6d40 annotatedProperty IAO_0000115 @default.
- Bc07a40fc84b2d4f6e15d2e73e11c6d40 annotatedSource MONDO_0009711 @default.
- Bc07a40fc84b2d4f6e15d2e73e11c6d40 annotatedTarget "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." @default.