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mismatch repair cancer syndrome
Summary
- Synonym
-
- BTP1 syndrome
- BTPS1
- CMMR-D syndrome
- CMMRDS
- MMR deficiency
- Turcot syndrome
- brain tumor-polyposis syndrome 1
- childhood cancer syndrome
- constitutional mismatch repair deficiency 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112182
- Mondo Disease Ontology
- ORDO
- OMIM
