| Metadata | |
|---|---|
| ID | DOID:0112182 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/24737826/, https://pubmed.ncbi.nlm.nih.gov/7661930/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
brain tumor-polyposis syndrome 1 [EXACT] BTP1 syndrome [EXACT] BTPS1 [EXACT] childhood cancer syndrome [EXACT] CMMR-D syndrome [EXACT] CMMRDS [EXACT] constitutional mismatch repair deficiency syndrome [EXACT] MMR deficiency [EXACT] Turcot syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |