UNC13D Gene Mutation

Preferred Label : UNC13D Gene Mutation;

NCIt synonyms : Unc-13 Homolog D Gene Mutation; Munc13-4 Gene Mutation; FHL3 Gene Mutation; HLH3 Gene Mutation; HPLH3 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the UNC13D gene.;

NCI Metathesaurus CUI : CL950639;

Details

Origin ID

C158659;

UMLS CUI

C5203861;

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
- Familial Hemophagocytic Lymphohistiocytosis Type 3 [NCIt concept]
molecular_abnormality_involves_gene
- UNC13D Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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