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- B9a9dcc8a2d4e9ed653f8081ee3549c96 hasDbXref "DOID:0080197" @default.
- B9a9dcc8a2d4e9ed653f8081ee3549c96 type Axiom @default.
- B9a9dcc8a2d4e9ed653f8081ee3549c96 annotatedProperty IAO_0000115 @default.
- B9a9dcc8a2d4e9ed653f8081ee3549c96 annotatedSource MONDO_0024607 @default.
- B9a9dcc8a2d4e9ed653f8081ee3549c96 annotatedTarget "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." @default.