Atrial septal defect 5

Preferred Label : Atrial septal defect 5;

Symbol : ASD5;

CISMeF acronym : ASD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actin, alpha, cardiac muscle gene (ACTC1, 102540.0005);

Prefixed ID : #612794;

Details

Origin ID

612794;

UMLS CUI

C2748552;

Automatic exact mappings (from CISMeF team)
- ACTC1 wt Allele [NCIt concept]
- Atrial septal defect, ostium secundum type [ORDO Disease]
Currated CISMeF NLP mapping
- atrial heart septal defect 5 [DO Concept]
- atrial septal defect 5 [MeSH concept]
- atrial septal defect 5 [MeSH Supplementary Concept]
DO Cross reference
- atrial heart septal defect 5 [DO Concept]
Genes related to phenotype
- Actin, alpha, cardiac muscle [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [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 5 [MeSH Supplementary Concept]
- atrial septal defect 5 [MeSH concept]

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