Pulmonary hypertension, primary, 5

Preferred Label : Pulmonary hypertension, primary, 5;

Symbol : PPH5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pulmonary hypertension, primary, 5, autosomal recessive;

Description : For a phenotypic description of primary pulmonary hypertension (PPH), see PPH1 (178600).;

Inheritance : ? Autosomal recessive;

Prefixed ID : #265400;

Details

Origin ID

265400;

UMLS CUI

C5676877;

Automatic exact mappings (from CISMeF team)
- Idiopathic/heritable pulmonary arterial hypertension [ORDO Disease]
Broader ORDO disease(s)
- Idiopathic/heritable pulmonary arterial hypertension [ORDO Disease]
Currated CISMeF NLP mapping
- pulmonary hypertension, primary, autosomal recessive [MeSH concept]
- pulmonary hypertension, primary, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- primary pulmonary hypertension [DO Concept]
Genes related to phenotype
- Atpase 13a3 [OMIM gene]
HPO term(s)
- Angina pectoris [HPO term]
- Autosomal recessive inheritance [HPO term]
- Easy fatigability [HPO term]
- Exertional dyspnea [HPO term]
- Fatigue [HPO term]
- Muscle weakness [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Right ventricular failure [HPO term]
- Right ventricular hypertrophy [HPO term]
- Syncope [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Idiopathic/heritable pulmonary arterial hypertension [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pulmonary hypertension, primary, autosomal recessive [MeSH Supplementary Concept]
- pulmonary hypertension, primary, autosomal recessive [MeSH concept]

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