Pulmonary hypertension, primary, 3

Definition

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.

Also known as CAV1 primary pulmonary hypertension, primary pulmonary hypertension caused by mutation in CAV1, pulmonary hypertension, primary, 3, pulmonary hypertension, primary, type 3 — per MONDO

Also identified as

• OMIM 615343 per MONDO
• UMLS C3809192 per MONDO