HSD3B1 Gene Mutation

Preferred Label : HSD3B1 Gene Mutation;

NCIt synonyms : Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 Gene Mutation; HSD3B Gene Mutation; HSDB3 Gene Mutation; SDR11E1 Gene Mutation; 3BETAHSD Gene Mutation; HSDB3A Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the HSD3B1 gene.;

NCI Metathesaurus CUI : CL1772604;

Details

Origin ID

C184296;

UMLS CUI

C5669185;

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]
molecular_abnormality_involves_gene
- HSD3B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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