Search Ontology:
Human Disease
mismatch repair cancer syndrome
- Term ID
- DOID:0112182
- Synonyms
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- brain tumor-polyposis syndrome 1
- BTP1 syndrome
- BTPS1
- childhood cancer syndrome
- CMMR-D syndrome
- CMMRDS
- constitutional mismatch repair deficiency syndrome
- MMR deficiency
- Turcot 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. (2)
- References
-
- MIM:276300
- ORDO:252202
- Ontology
- Human Disease ( DOID:0112182 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models