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- B39b33c1a3f4502f23a0442d259eadfc3 NCIT_P378 "NCI" @default.
- B39b33c1a3f4502f23a0442d259eadfc3 type Axiom @default.
- B39b33c1a3f4502f23a0442d259eadfc3 annotatedProperty IAO_0000115 @default.
- B39b33c1a3f4502f23a0442d259eadfc3 annotatedSource NCIT_C131001 @default.
- B39b33c1a3f4502f23a0442d259eadfc3 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.