Central Nervous System SMARCB1/INI1-Deficient Tumor

Preferred Label : Central Nervous System SMARCB1/INI1-Deficient Tumor;

NCIt synonyms : Central Nervous System Tumor, SMARCB1-Mutant;

NCIt definition : A group of SMARCB1/INI1 deficient tumors that arise from the central nervous system. It includes highly aggressive and slow-growing tumors.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1648037;

Details

Origin ID

C178506;

UMLS CUI

C5555092;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
disease_has_finding
- Loss of INI 1 Protein Expression [NCIt concept]
disease_has_molecular_abnormality
- SMARCB1 Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
disease_mapped_to_gene
- SMARCB1 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- SMARCB1 Gene [NCIt concept]
- SMARCB1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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