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- Bd8d6b3e61c91eb0bd11115b5f7305658 NCIT_P378 "NCI" @default.
- Bd8d6b3e61c91eb0bd11115b5f7305658 type Axiom @default.
- Bd8d6b3e61c91eb0bd11115b5f7305658 annotatedProperty IAO_0000115 @default.
- Bd8d6b3e61c91eb0bd11115b5f7305658 annotatedSource NCIT_C131001 @default.
- Bd8d6b3e61c91eb0bd11115b5f7305658 annotatedTarget "A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius." @default.