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mismatch repair cancer syndrome 1

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


Explore Associated Targets
Mondo Description A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.
Mondo Term and Equivalent IDs
MONDO:0010159:  mismatch repair cancer syndrome 1
GARD:0000420: 
MESH:C536928: 
NCIT:C130202: 
Orphanet:252202: 
SCTID:61665008: 
UMLS:C0265325: 
UMLS:C4321324: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found