Hereditary Nonpolyposis Colorectal Cancer Type 8
Disease ID: disease_node_17089
Connections displayed (default: 10).
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| Dbxref | MIM:613244 |
|---|---|
| Subclassof | DOID_3883, DOID_0060388 |
| Data Source | DOID |
| Synonyms | HNPCC8 |
| Doid Label | hereditary nonpolyposis colorectal cancer type 8 |
| Doid 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. |
| Disease Node Id | disease_node_17089 |
| Doid Id | DOID_0070270 |
| Label | Hereditary Nonpolyposis Colorectal Cancer Type 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Colorectal Neoplasms, Hereditary Nonpolyposis(ID:disease_node_2182) (Disease)