Version: 8.0.0
Date: Tue Jan 28 2025
mismatch repair cancer syndrome
DOID:0112182
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mismatch repair cancer syndrome

Definition
A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.
Synonyms
  • brain tumor-polyposis syndrome 1
  • BTP1 syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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