Atrial septal defect 9

Preferred Label : Atrial septal defect 9;

Symbol : ASD9;

CISMeF acronym : ASD9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-6 gene (GATA6, 601656.0005);

Prefixed ID : #614475;

Details

Origin ID

614475;

UMLS CUI

C3280943;

Automatic exact mappings (from CISMeF team)
- Atrial septal defect, ostium secundum type [ORDO Disease]
Currated CISMeF NLP mapping
- atrial heart septal defect 9 [DO Concept]
DO Cross reference
- atrial heart septal defect 9 [DO Concept]
Genes related to phenotype
- Gata-binding protein 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Secundum atrial 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]

Keyword's position in hierarchy(ies) :

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