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DO Term : hereditary nonpolyposis colorectal cancer type 8 [DOID:0070270] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • 613244,
  • HNPCC8,
  • OMIM:613244
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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