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DOID:0070270 - hereditary nonpolyposis colorectal cancer type 8
Disease Ontology Definition:A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.
Synonyms: HNPCC8,
Xenbase Genes : epcam
MONDO:0013196 - Lynch syndrome 8 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee