SOX9 Gene Mutation

Preferred Label : SOX9 Gene Mutation;

NCIt synonyms : SRY (Sex Determining Region Y)-Box 9 (Campomelic Dysplasia, Autosomal Sex-Reversal) Gene Mutation; SRY-Related HMG-Box Gene 9 Mutation; SRA1 Gene Mutation; SRY-Box 9 Gene Mutation; CMPD1 Gene Mutation; CMD1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SOX9 gene.;

NCI Metathesaurus CUI : CL554888;

Details

Origin ID

C153512;

UMLS CUI

C4727309;

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
- SOX9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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