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pilomatrixoma

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


GARD Rare
Mondo Description Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.
Uniprot Description Common benign skin tumor.
Mondo Term and Equivalent IDs
MONDO:0007564:  pilomatrixoma
EFO:0009082: 
GARD:0009452: 
MESH:D018296: 
NCIT:C7368: 
Orphanet:91414: 
SCTID:274901004: 
UMLS:C0206711: 
UMLS:C0853031: