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- B476b7a7f2f47d8d28e37e1af1bf7806f NCIT_P378 "NICHD" @default.
- B476b7a7f2f47d8d28e37e1af1bf7806f type Axiom @default.
- B476b7a7f2f47d8d28e37e1af1bf7806f annotatedProperty NCIT_P325 @default.
- B476b7a7f2f47d8d28e37e1af1bf7806f annotatedSource NCIT_C131001 @default.
- B476b7a7f2f47d8d28e37e1af1bf7806f 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.