Germline HOXB13 Gene Mutation

Preferred Label : Germline HOXB13 Gene Mutation;

NCIt synonyms : HOXB13 Germline Mutation; Germline Homeo Box B13 Gene Mutation; Germline HPC9 Gene Mutation; Germline Homeobox B13 Gene Mutation; Germline PSGD Gene Mutation; Germline Hox-B13 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the HOXB13 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL937396;

Details

Origin ID

C157756;

UMLS CUI

C4763833;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- HOXB13 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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