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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:0000505 | Visual impairment |
| HP:0000708 | Atypical behavior |
| HP:0000716 | Depression |
| HP:0000737 | Irritability |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0001123 | Visual field defect |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001260 | Dysarthria |
