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chromophobe renal cell carcinoma

Disease Summary
Associated Targets (126)
Tbio

69

Tchem

35

Tclin

17

Tdark

5


GARD Rare
Mondo Description Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.
Disease Ontology Description A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.
Mondo Term and Equivalent IDs
MONDO:0017885:  chromophobe renal cell carcinoma
EFO:0000335: 
GARD:0006064: 
NCIT:C4146: 
ONCOTREE:CHRCC: 
Orphanet:319303: 
SCTID:733471003: 
UMLS:C1266042: 
UMLS:C3887514: