Congenital heart defects, multiple types, 4

Preferred Label : Congenital heart defects, multiple types, 4;

Symbol : CHTD4;

CISMeF acronym : CHTD4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 2, group F, member 2 gene (NR2F2, 107773.0001);

Prefixed ID : #615779;

Details

Origin ID

615779;

UMLS CUI

C4014310;

Genes related to phenotype
- Nuclear receptor subfamily 2, group f, member 2 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coarctation of aorta [HPO term]
- Hypoplastic left heart [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Atrioventricular septal defect [ORDO Disease]
- Complete atrioventricular septal defect with ventricular hypoplasia [ORDO Disease]
- Complete atrioventricular septal defect-tetralogy of Fallot [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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