Rhabdoid Tumor Predisposition Syndrome 1

Preferred Label : Rhabdoid Tumor Predisposition Syndrome 1;

NCIt definition : Rhabdoid tumor predisposition syndrome caused by mutation(s) in the SMARCB1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1.;

Details

Origin ID

C178393;

UMLS CUI

C1836327;

Currated CISMeF NLP mapping
- Rhabdoid tumor predisposition syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhabdoid tumor predisposition syndrome 1 [OMIM Phenotype]
- rhabdoid tumor predisposition syndrome 1 [MeSH Supplementary Concept]
- rhabdoid tumor predisposition syndrome 1 [MeSH concept]
Validated automatic mappings to NTBT
- rhabdoid tumor predisposition syndrome 1 [MeSH concept]
- rhabdoid tumor predisposition syndrome 1 [MeSH Supplementary Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_disease
- Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Extrarenal Rhabdoid Tumor [NCIt concept]
- Rhabdoid Tumor of the Kidney [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- SMARCB1 Gene [NCIt concept]
disease_may_have_associated_disease
- Choroid Plexus Carcinoma [NCIt concept]
- Medulloblastoma [NCIt concept]
- Supratentorial Embryonal Tumor, Not Otherwise Specified [NCIt concept]
pathogenesis_of_disease_involves_gene
- SMARCB1 Gene [NCIt concept]
- SMARCB1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- SMARCB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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