Atrial septal defect 6

Preferred Label : Atrial septal defect 6;

Symbol : ASD6;

CISMeF acronym : ASD6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tolloid-like 1 gene (TLL1, 606742.0001);

Prefixed ID : #613087;

Détails

Origin ID

613087;

UMLS CUI

C2751315;

Automatic exact mappings (from CISMeF team)
- Atrial septal defect, ostium secundum type [ORDO Disease]
Currated CISMeF NLP mapping
- atrial heart septal defect 6 [DO Concept]
- atrial septal defect 6 [MeSH concept]
- atrial septal defect 6 [MeSH Supplementary Concept]
DO Cross reference
- atrial heart septal defect 6 [DO Concept]
Genes related to phenotype
- Tolloid-like 1 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
ORDO concept(s)
- Interatrial communication [ORDO Disease]
See also inter- (CISMeF)
- TLL1 wt Allele [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- atrial septal defect 6 [MeSH Supplementary Concept]
- atrial septal defect 6 [MeSH concept]

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

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