NF1 Gene Deletion

Preferred Label : NF1 Gene Deletion;

NCIt synonyms : NF1 Deletion; NFNS Gene Deletion; Neurofibromin 1 Gene Deletion;

NCIt definition : A molecular abnormality referring to the loss of at least one copy of the NF1 gene.;

NCI Metathesaurus CUI : CL554492;

Details

Origin ID

C153264;

UMLS CUI

C4727132;

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]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 17 [NCIt concept]
molecular_abnormality_involves_gene
- NF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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