Aortic aneurysm, familial thoracic 11, susceptibility to

Preferred Label : Aortic aneurysm, familial thoracic 11, susceptibility to;

Symbol : AAT11;

CISMeF acronym : AAT11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead box-E3 gene (FOXE3, 601094.0007);

Prefixed ID : #617349;

Détails

Origin ID

617349;

UMLS CUI

C4479235;

Genes related to phenotype
- Forkhead box e3 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Aortic aneurysm [HPO term]
- Ascending aortic dissection [HPO term]
- Autosomal dominant inheritance [HPO term]
- Descending aortic dissection [HPO term]
- Incomplete penetrance [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

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