Germline DDX41 Gene Mutation

Preferred Label : Germline DDX41 Gene Mutation;

NCIt synonyms : Germline DEAD-Box Helicase 41 Gene Mutation; Germline Drosophila Abstrakt Homolog Gene Mutation; Germline ABS Gene Mutation; Germline DEAD/H Box 41 Gene Mutation;

NCIt related terms : Germline DDX41 variant;

NCIt definition : A change in the nucleotide sequence of the DDX41 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1907433;

Details

Origin ID

C200430;

UMLS CUI

C5856235;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Hematologic Neoplasm with Germline DDX41 Mutation [NCIt concept]
molecular_abnormality_involves_gene
- DDX41 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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