Pulmonary hypertension, primary, 3

Preferred Label : Pulmonary hypertension, primary, 3;

Symbol : PPH3;

CISMeF acronym : PPH3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caveolin-1 gene (CAV1, 601047.0002);

Prefixed ID : #615343;

Détails

Origin ID

615343;

UMLS CUI

C3809192;

Automatic exact mappings (from CISMeF team)
- CAV1 wt Allele [NCIt concept]
DO Cross reference
- primary pulmonary hypertension [DO Concept]
Genes related to phenotype
- Caveolin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dyspnea [HPO term]
- Elevated pulmonary artery pressure [HPO term]
- Incomplete penetrance [HPO term]
- Increased pulmonary vascular resistance [HPO term]
- Pulmonary arterial hypertension [HPO term]
ORDO concept(s)
- Idiopathic/heritable pulmonary arterial hypertension [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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