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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:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001371 | Flexion contracture |
| HP:0001402 | Hepatocellular carcinoma |
| HP:0001522 | Death in infancy |
| HP:0001824 | Weight loss |
| HP:0002017 | Nausea and vomiting |
| HP:0002019 | Constipation |
| HP:0002024 | Malabsorption |
| HP:0002027 | Abdominal pain |
