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- B8c1166ff7428d7450899f2d9bb5c36d4 hasDbXref "NCIT:C4681" @default.
- B8c1166ff7428d7450899f2d9bb5c36d4 hasDbXref "PMID:18411254" @default.
- B8c1166ff7428d7450899f2d9bb5c36d4 type Axiom @default.
- B8c1166ff7428d7450899f2d9bb5c36d4 annotatedProperty IAO_0000115 @default.
- B8c1166ff7428d7450899f2d9bb5c36d4 annotatedSource MONDO_0100253 @default.
- B8c1166ff7428d7450899f2d9bb5c36d4 annotatedTarget "A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities." @default.