Terminology Service for NFDI4Health
Heritable Pulmonary Arterial Hypertension
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http://purl.obolibrary.org/obo/NCIT_C121945
A rare, progressive, autosomal dominant inherited disorder. It is caused by mutation in the BMPR2 gene in most cases. It is characterized by abnormally high blood pressure in the pulmonary artery, caused by obstruction and obliteration of the small pulmonary arteries. [ ]
Term info
Label
Heritable Pulmonary Arterial Hypertension
Synonyms
- HPAH
- Heritable Pulmonary Arterial Hypertension
Subsets
NCIT_C118168, NCIT_C116977
Contributing Source
CTRP
Display Name
Heritable Pulmonary Arterial Hypertension
NCI META CUI
CL476349
Preferred Name
Heritable Pulmonary Arterial Hypertension
Semantic Type
Disease or Syndrome
code
C121945