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- B9f7a6e6b2ee41d165c1808801ffb0f2b NCIT_P378 "NICHD" @default.
- B9f7a6e6b2ee41d165c1808801ffb0f2b type Axiom @default.
- B9f7a6e6b2ee41d165c1808801ffb0f2b annotatedProperty NCIT_P325 @default.
- B9f7a6e6b2ee41d165c1808801ffb0f2b annotatedSource NCIT_C131002 @default.
- B9f7a6e6b2ee41d165c1808801ffb0f2b annotatedTarget "An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities." @default.