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About: hereditary nonpolyposis colorectal cancer type 8     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • hereditary nonpolyposis colorectal cancer type 8
described by
id
  • DOID:0070270
database_cross_reference
  • OMIM:613244
has_exact_synonym
  • HNPCC8 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
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