SBDS Gene Mutation

Preferred Label : SBDS Gene Mutation;

NCIt synonyms : SDS Gene Mutation; CGI-97 Gene Mutation; SBDS Ribosome Maturation Factor Gene Mutation; SWDS Gene Mutation; Shwachman-Bodian-Diamond Syndrome Gene Mutation;

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

NCI Metathesaurus CUI : CL972350;

Details

Origin ID

C167119;

UMLS CUI

C5238281;

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
- SBDS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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