Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bef0cfa9e4f241a4d4973b764b4734c2f> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bef0cfa9e4f241a4d4973b764b4734c2f NCIT_P378 "NICHD" @default.
- Bef0cfa9e4f241a4d4973b764b4734c2f type Axiom @default.
- Bef0cfa9e4f241a4d4973b764b4734c2f annotatedProperty NCIT_P325 @default.
- Bef0cfa9e4f241a4d4973b764b4734c2f annotatedSource NCIT_C131001 @default.
- Bef0cfa9e4f241a4d4973b764b4734c2f 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.