Preferred Name |
Lynch syndrome |
|
Synonyms |
hereditary nonpolyposis colorectal neoplasm COCA 1 |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_3883 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2020_03_01:315058005 UMLS_CUI:C0009405 UMLS_CUI:C1333990 OMIM:PS120435 MESH:D003123 NCI:C120083 GARD:9905 ORDO:144 |
|
has exact synonym |
hereditary nonpolyposis colorectal neoplasm HNPCC - hereditary nonpolyposis colon cancer hereditary nonpolyposis colorectal cancer Hereditary Defective Mismatch Repair syndrome COCA 1 |
|
has_alternative_id |
DOID:0050586 DOID:3040 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:3883 |
|
imported from | ||
in_subset | ||
label |
Lynch syndrome |
|
notation |
DOID:3883 |
|
prefLabel |
Lynch syndrome |
|
textual 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. |
|
subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
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