Aortic valve disease 3

Preferred Label : Aortic valve disease 3;

Symbol : AOVD3;

CISMeF acronym : AOVD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bicuspid aortic valve; Aortic valve stenosis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the roundabout guidance receptor 4 gene (ROBO4, 607528.0001);

Prefixed ID : #618496;

Details

Origin ID

618496;

UMLS CUI

C5193127;

Automatic exact mappings (from CISMeF team)
- Bicuspid aortic valve [ORDO Disease]
Genes related to phenotype
- Roundabout guidance receptor 4 [OMIM gene]
HPO term(s)
- Aortic root aneurysm [HPO term]
- Aortic valve stenosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients