Congenital heart defects, multiple types, 5

Preferred Label : Congenital heart defects, multiple types, 5;

Symbol : CHTD5;

CISMeF acronym : CHTD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-5 gene (GATA5, 611496.0001);

Prefixed ID : #617912;

Details

Origin ID

617912;

UMLS CUI

C4693563;

Genes related to phenotype
- Gata-binding protein 5 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Atrial fibrillation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Dilated cardiomyopathy [HPO term]
- Double outlet right ventricle [HPO term]
- Incomplete penetrance [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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