inv(X)(p11.4;p11.22)

Preferred Label : inv(X)(p11.4;p11.22);

NCIt definition : A paracentric chromosomal inversion of the short arm of the X chromosome involving the BCOR gene at Xp11.4 and the CCNB3 gene at Xp11.22.;

NCI Metathesaurus CUI : CL1412035;

Details

Origin ID

C174489;

UMLS CUI

C5420805;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome X [NCIt concept]
is_abnormality_of_gene
- BCOR/CCNB3 Fusion Gene [NCIt concept]
molecular_abnormality_involves_gene
- BCOR Gene [NCIt concept]
- BCOR/CCNB3 Fusion Gene [NCIt concept]
- CCNB3 Gene [NCIt concept]

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