Atrial septal defect 8

Preferred Label : Atrial septal defect 8;

Symbol : ASD8;

CISMeF acronym : ASD8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 gene (CITED2, 602937.0001);

Prefixed ID : #614433;

Details

Origin ID

614433;

UMLS CUI

C3280790;

Automatic exact mappings (from CISMeF team)
- Atrial septal defect, ostium secundum type [ORDO Disease]
- Atrial septal defect, sinus venosus type [ORDO Disease]
Currated CISMeF NLP mapping
- atrial heart septal defect 8 [DO Concept]
DO Cross reference
- atrial heart septal defect 8 [DO Concept]
Genes related to phenotype
- Cbp/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 [OMIM gene]
HPO term(s)
- Anomalous pulmonary venous return [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
ORDO concept(s)
- Interatrial communication [ORDO Disease]
See also inter- (CISMeF)
- CITED2 wt Allele [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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