hereditary nonpolyposis colorectal cancer type 8

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: epcam

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013196 - Lynch syndrome 8

MONDO:0013196 - Lynch syndrome 8

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Lynch syndrome (is_a), chromosomal deletion syndrome (is_a)