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rhabdoid tumor predisposition syndrome 2
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.
Uniprot Description A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567643
OMIM:613325
UMLS:C2750074
MONDO:0013224
High level summary of knowledge for a disease, including descriptions and datasource references.