You are using an outdated browser. Please upgrade your browser to improve your experience.
pulmonary hypertension, primary, 1
Disease Summary
Associated Targets (4)
Tbio
2
Tclin
1
Tchem
1
Mondo Description Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.
Uniprot Description A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.
Download Data for pulmonary hypertension, primary, 1
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:178600
MONDO:0024533
High level summary of knowledge for a disease, including descriptions and datasource references.