Moyamoya disease 2

Preferred Label : Moyamoya disease 2;

Symbol : MYMY2;

CISMeF acronym : MYMY2;

Type : Phenotype, molecular basis known;

Description : Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by Kamada et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).;

Prefixed ID : #607151;

Details

Origin ID

607151;

UMLS CUI

C1846689;

Broader ORDO disease(s)
- Moyamoya disease [ORDO Disease]
Currated CISMeF NLP mapping
- Moyamoya Disease 2 [NCIt concept]
- Moyamoya disease 2 [MeSH concept]
- moyamoya disease 2 [MeSH Supplementary Concept]
DO Cross reference
- Moyamoya disease [DO Concept]
Genes related to phenotype
- Ring finger protein 213 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Moyamoya phenomenon [HPO term]
- Transient ischemic attack [HPO term]
ORDO concept(s)
- Moyamoya disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Moyamoya Disease 2 [NCIt concept]
- Moyamoya disease 2 [MeSH concept]
- moyamoya disease 2 [MeSH Supplementary Concept]

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