| Metadata | |
|---|---|
| ID | DOID:0070271 |
| Name | Lynch syndrome 1 |
| Definition | A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. https://www.ncbi.nlm.nih.gov/pubmed/8574961, https://www.ncbi.nlm.nih.gov/pubmed/8261515 |
| Xrefs | |
| SKOS |
exactMatch NCI:C6725 exactMatch MIM:120435 exactMatch UMLS_CUI:C2936783 |
| Subsets |
NCIthesaurus |
| Synonyms |
COCA1 [EXACT] familial nonpolyposis colon cancer type 1 [EXACT] FCC1 [EXACT] hereditary nonpolyposis colorectal cancer type 1 [EXACT] HNPCC1 [EXACT] |
| Parent Relationships |
is_a Lynch syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |