Aortic aneurysm, familial thoracic 8

Preferred Label : Aortic aneurysm, familial thoracic 8;

Symbol : AAT8;

CISMeF acronym : AAT8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cGMP-dependent regulatory protein kinase, type 1 gene (PRKG1, 176894.0001);

Prefixed ID : #615436;

Details

Origin ID

615436;

UMLS CUI

C3809513;

Automatic exact mappings (from CISMeF team)
- PRKG1 wt Allele [NCIt concept]
DO Cross reference
- thoracic aortic aneurysm [DO Concept]
Genes related to phenotype
- Protein kinase, cgmp-dependent, regulatory, type I [OMIM gene]
HPO term(s)
- Abdominal aortic aneurysm [HPO term]
- Adult onset [HPO term]
- Ascending aortic dissection [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coronary artery aneurysm [HPO term]
- Coronary artery dissection [HPO term]
- Descending aortic dissection [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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