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Lynch syndrome 1
Summary
- Synonym
-
- FCC1
- HNPCC1
- familial nonpolyposis colon cancer type 1
- hereditary nonpolyposis colorectal cancer type 1
- Definition
- A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
- Super Class
- Lynch syndrome
External Links
- Disease Ontology
- DOID:0070271
- Mondo Disease Ontology
- OMIM
- 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 |
