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- Bfe71836f29bd756c9ea5f14f66509fa7 NCIT_P378 "NCI" @default.
- Bfe71836f29bd756c9ea5f14f66509fa7 type Axiom @default.
- Bfe71836f29bd756c9ea5f14f66509fa7 annotatedProperty IAO_0000115 @default.
- Bfe71836f29bd756c9ea5f14f66509fa7 annotatedSource NCIT_C131002 @default.
- Bfe71836f29bd756c9ea5f14f66509fa7 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.