Atrial septal defect 7 with or without atrioventricular conduction defects

Preferred Label : Atrial septal defect 7 with or without atrioventricular conduction defects;

Symbol : ASD7;

CISMeF acronym : ASD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Asd with or without atrioventricular conduction defects;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NK2 homeobox-5 gene (NKX2-5, 600584.0001);

Prefixed ID : #108900;

Détails

Origin ID

108900;

UMLS CUI

C3276096;

Currated CISMeF NLP mapping
- Atrial septal defect, atrioventricular conduction defect syndrome (disorder) [SNOMED CT concept]
- Atrial septal defect-atrioventricular conduction defects syndrome [ORDO Disease]
- atrial heart septal defect 7 [DO Concept]
- atrial septal defect with atrioventricular conduction defects [MeSH Supplementary Concept]
- atrial septal defect with atrioventricular conduction defects [MeSH concept]
DO Cross reference
- atrial heart septal defect 7 [DO Concept]
Genes related to phenotype
- Nk2 homeobox 5 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Left ventricular hypertrophy [HPO term]
- Prolonged PR interval [HPO term]
- Pulmonary artery atresia [HPO term]
- Secundum atrial septal defect [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Atrial septal defect-atrioventricular conduction defects syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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