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DOID:0112182 - mismatch repair cancer syndrome
Disease Ontology 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.
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,
Xenbase Genes
:
apc,
msh2,
msh6,
pms2,
mlh1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)