Moyamoya disease 5

Preferred Label : Moyamoya disease 5;

Symbol : MYMY5;

CISMeF acronym : MYMY5;

Type : Phenotype, molecular basis known;

Description : Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).;

Prefixed ID : #614042;

Details

Origin ID

614042;

UMLS CUI

C3279690;

Automatic exact mappings (from CISMeF team)
- ACTA2 wt Allele [NCIt concept]
DO Cross reference
- Moyamoya disease [DO Concept]
Genes related to phenotype
- Actin, alpha-2, smooth muscle, aorta [OMIM gene]
HPO term(s)
- Ascending tubular aorta aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Moyamoya phenomenon [HPO term]
ORDO concept(s)
- Moyamoya disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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