Antley–Bixler syndrome (POR-related)

E2041337 UNEXPLORED

Antley–Bixler syndrome (POR-related) is a rare genetic disorder characterized by craniosynostosis, skeletal malformations, and disordered steroidogenesis due to defects in cytochrome P450 oxidoreductase.

Try in SPARQL Jump to: Surface forms Referenced by

All labels observed (1)

Label	Occurrences
Antley–Bixler syndrome (POR-related) canonical	1

Referenced by (1)

Full triples — surface form annotated when it differs from this entity's canonical label.

cytochrome P450 reductase → mutationAssociatedWith → Antley–Bixler syndrome (POR-related) ⓘ