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- B9a9243c74217fa589ed1bd948e1d6672 NCIT_P378 "NCI" @default.
- B9a9243c74217fa589ed1bd948e1d6672 type Axiom @default.
- B9a9243c74217fa589ed1bd948e1d6672 annotatedProperty IAO_0000115 @default.
- B9a9243c74217fa589ed1bd948e1d6672 annotatedSource NCIT_C133730 @default.
- B9a9243c74217fa589ed1bd948e1d6672 annotatedTarget "An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is characterized by mental retardation without structural brain abnormalities and limb-girdle muscular dystrophy." @default.