OBO ID: DOID:0070270
Term Name: hereditary nonpolyposis colorectal cancer type 8 Search Ontology:
Synonyms:
  • HNPCC8
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. https://www.ncbi.nlm.nih.gov/pubmed/19098912
References:
Ontology: Human Disease   ( DOID:0070270 )
Relationships
is a type of:
OTHER hereditary nonpolyposis colorectal cancer type 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EPCAM Lynch syndrome 8 613244
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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