NOTCH3 Gene Mutation

Preferred Label : NOTCH3 Gene Mutation;

NCIt synonyms : CASIL Gene Mutation; CADASIL Gene Mutation; Notch Homolog 3 Gene Mutation; Notch 3 Gene Mutation; Notch (Drosophila) Homolog 3 Gene Mutation; IMF2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the NOTCH3 gene.;

NCI Metathesaurus CUI : CL937578;

Details

Origin ID

C158057;

UMLS CUI

C4764017;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Infantile Myofibromatosis 2 [NCIt concept]
molecular_abnormality_involves_gene
- NOTCH3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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