Aortic aneurysm, familial thoracic 10

Preferred Label : Aortic aneurysm, familial thoracic 10;

Symbol : AAT10;

CISMeF acronym : AAT10;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysyl oxidase gene (LOX, 153455.0002);

Prefixed ID : #617168;

Détails

Origin ID

617168;

UMLS CUI

C4284414;

Genes related to phenotype
- Lysyl oxidase [OMIM gene]
HPO term(s)
- Abdominal aortic aneurysm [HPO term]
- Aortic arch aneurysm [HPO term]
- Aortic root aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Dental crowding [HPO term]
- Disproportionate tall stature [HPO term]
- Dural ectasia [HPO term]
- High palate [HPO term]
- Joint hypermobility [HPO term]
- Mitral regurgitation [HPO term]
- Myopia [HPO term]
- Pectus excavatum [HPO term]
- Scoliosis [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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