| Metadata | |
|---|---|
| ID | DOID:3883 |
| Name | Lynch syndrome |
| Definition | A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer, http://ghr.nlm.nih.gov/condition/lynch-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:700064004 |
| SKOS |
exactMatch GARD:9905 exactMatch ORDO:144 exactMatch UMLS_CUI:C0009405 exactMatch MIM:PS120435 exactMatch NCI:C8494 exactMatch MESH:D003123 broadMatch ORDO:443909 broadMatch NCI:C120083 broadMatch UMLS_CUI:C1333990 |
| Alternateids |
DOID:0050586 DOID:3040 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Hereditary Defective Mismatch Repair syndrome [EXACT] Hereditary non-polyposis colon cancer [EXACT] Hereditary non-polyposis colon cancer syndrome [EXACT] Hereditary non-polyposis colorectal cancer [EXACT] Hereditary non-polyposis colorectal cancer syndrome [EXACT] Hereditary nonpolyposis colon cancer [EXACT] Hereditary nonpolyposis colon cancer syndrome [EXACT] hereditary nonpolyposis colorectal cancer [EXACT] Hereditary nonpolyposis colorectal cancer syndrome [EXACT] hereditary nonpolyposis colorectal neoplasm [EXACT] HNPCC [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |