Mismatch Repair Cancer Syndrome
Disease ID: disease_node_20231
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| Dbxref | MIM:276300, ORDO:252202 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | BTP1 syndrome, BTPS1, CMMR-D syndrome, CMMRDS, MMR deficiency, Turcot syndrome, brain tumor-polyposis syndrome 1, childhood cancer syndrome, constitutional mismatch repair deficiency syndrome |
| Doid Label | mismatch repair cancer syndrome |
| Doid Description | A syndrome characterized by predisposition for development of a broad spectrum of maligcies 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20231 |
| Doid Id | DOID_0112182 |
| Label | Mismatch Repair Cancer Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)