Moyamoya Disease 2

Preferred Label : Moyamoya Disease 2;

NCIt synonyms : MYMY2;

NCIt definition : An autosomally inherited subtype of moyamoya disease often presenting in childhood caused by mutation(s) in the RNF213 gene, encoding E3 ubiquitin-protein ligase RNF213.;

Details

Origin ID

C183312;

UMLS CUI

C1846689;

Currated CISMeF NLP mapping
- Moyamoya disease 2 [MeSH concept]
- Moyamoya disease 2 [OMIM Phenotype]
- moyamoya disease 2 [MeSH Supplementary Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Moyamoya disease 2 [OMIM Phenotype]
- Moyamoya disease 2 [MeSH concept]
- moyamoya disease 2 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RNF213 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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