Congenital heart defects, multiple types, 7

Preferred Label : Congenital heart defects, multiple types, 7;

Symbol : CHTD7;

CISMeF acronym : CHTD7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fms-like tyrosine kinase 4 gene (FLT4, 136352.0013);

Prefixed ID : #618780;

Détails

Origin ID

618780;

UMLS CUI

C5394062;

Genes related to phenotype
- Fms-like tyrosine kinase 4 [OMIM gene]
HPO term(s)
- Absence of the pulmonary valve [HPO term]
- Anxiety [HPO term]
- Aortopulmonary collateral arteries [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depression [HPO term]
- Double aortic arch [HPO term]
- Pulmonary artery atresia [HPO term]
- Pulmonic stenosis [HPO term]
- Right aortic arch [HPO term]
- Tetralogy of Fallot [HPO term]
ORDO concept(s)
- Tetralogy of Fallot [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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

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