autosomal recessive disease DNA repair disease mismatch repair cancer syndrome https://github.com/monarch-initiative/mondo/issues/7068 https://github.com/monarch-initiative/mondo/issues/9178 https://www.malacards.org/card/mismatch_repair_cancer_syndrome MEDGEN:78553 DOID:0112182 MONDO:0031219 NCIT:C130202 OMIMPS:276300 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. GARD:0017217 UMLS:C0265325 Orphanet:252202 constitutional mismatch repair deficiency syndrome