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- B502d12df3f5c646af2b01e4117c5f993 hasDbXref "DOID:0110094" @default.
- B502d12df3f5c646af2b01e4117c5f993 hasDbXref "PMID:23910462" @default.
- B502d12df3f5c646af2b01e4117c5f993 type Axiom @default.
- B502d12df3f5c646af2b01e4117c5f993 annotatedProperty IAO_0000115 @default.
- B502d12df3f5c646af2b01e4117c5f993 annotatedSource MONDO_0014214 @default.
- B502d12df3f5c646af2b01e4117c5f993 annotatedTarget "An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36." @default.