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renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions

Disease Summary
Associated Targets ()

Mondo Description A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.
Mondo Term and Equivalent IDs
MONDO:0006397:  renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions
EFO:1000508: 
NCIT:C27891: 
ONCOTREE:TRCC: 
UMLS:C1337036: