Atrial septal defect 2

Preferred Label : Atrial septal defect 2;

Symbol : ASD2;

CISMeF acronym : ASD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0001);

Prefixed ID : #607941;

Détails

Origin ID

607941;

UMLS CUI

C1842778;

Automatic exact mappings (from CISMeF team)
- Atrial septal defect, ostium secundum type [ORDO Disease]
Broader ORDO disease(s)
- Interatrial communication [ORDO Disease]
Currated CISMeF NLP mapping
- Atrial septal defect 2 [MeSH concept]
- atrial heart septal defect 2 [DO Concept]
- atrial septal defect 2 [MeSH Supplementary Concept]
- atrial septal defect 3 [MeSH Supplementary Concept]
DO Cross reference
- atrial heart septal defect 2 [DO Concept]
Genes related to phenotype
- Gata-binding protein 4 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Interatrial communication [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atrial septal defect 2 [MeSH concept]
- atrial septal defect 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Interatrial communication [ORDO Disease]

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

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