Aortic aneurysm, familial thoracic 7

Preferred Label : Aortic aneurysm, familial thoracic 7;

Symbol : AAT7;

CISMeF acronym : AAT7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aortic dissection, familial, with or without aortic aneurysm;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin light chain kinase gene (MYLK, 600922.0001);

Prefixed ID : #613780;

Details

Origin ID

613780;

UMLS CUI

C3151077;

Automatic exact mappings (from CISMeF team)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
DO Cross reference
- thoracic aortic aneurysm [DO Concept]
Genes related to phenotype
- Myosin light chain kinase [OMIM gene]
HPO term(s)
- Aortic aneurysm [HPO term]
- Aortic rupture [HPO term]
- Ascending aortic dissection [HPO term]
- Autosomal dominant inheritance [HPO term]
- Descending aortic dissection [HPO term]
- Sudden death [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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