Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary nonpolyposis colorectal cancer type 8
Summary
- Synonym
-
- 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.
- Super Class
- Lynch syndrome chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0070270
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007256 | Abnormal pyramidal sign |
| HP:0008069 | Neoplasm of the skin |
| HP:0009720 | Adenoma sebaceum |
| HP:0009726 | Renal neoplasm |
| HP:0010524 | Disturbed sensory perception |
| HP:0010526 | Dysgraphia |
| HP:0010622 | Neoplasm of the skeletal system |
| HP:0010786 | Urinary tract neoplasm |
| HP:0012114 | Endometrial carcinoma |
| HP:0012118 | Laryngeal carcinoma |
