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Muir-Torre syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
Uniprot Description Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy.
Disease Ontology Description A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
Mondo Term and Equivalent IDs
MONDO:0008018:  Muir-Torre syndrome
GARD:0006821: 
MESH:D055653: 
NCIT:C84905: 
Orphanet:587: 
SCTID:403824007: 
UMLS:C1321489: