Atrioventricular septal defect, susceptibility to, 2

Preferred Label : Atrioventricular septal defect, susceptibility to, 2;

Symbol : AVSD2;

CISMeF acronym : AVSD2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Atrioventricular septal defect, partial, with heterotaxy syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the cysteine-rich protein with EGF-like domain 1 gene (CRELD1, 607170.0001);

Prefixed ID : #606217;

Details

Origin ID

606217;

UMLS CUI

C1853508;

Automatic exact mappings (from CISMeF team)
- atrioventricular septal defect, partial, with heterotaxy syndrome [MeSH concept]
- atrioventricular septal defect, partial, with heterotaxy syndrome [MeSH Supplementary Concept]
- symbol withdrawn AVSD2 [HGNC gene]
Genes related to phenotype
- Cysteine-rich protein with egf-like domains 1 [OMIM gene]
HPO term(s)
- Atrioventricular canal defect [HPO term]
- Atrioventricular septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dextrocardia [HPO term]
- Heterogeneous [HPO term]
- Incomplete penetrance [HPO term]
- Pulmonary artery atresia [HPO term]
- Right aortic arch with mirror image branching [HPO term]
ORDO concept(s)
- Atrioventricular septal defect [ORDO Disease]
Related ORDO disease(s)
- Partial atrioventricular septal defect [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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