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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

GARD:9905

MESH:D003123

NCI:C120083

OMIM:PS120435

ORDO:144

SNOMEDCT_US_2021_03_01:315058005

UMLS_CUI:C0009405

UMLS_CUI:C1333990

Alternateids

DOID:0050586

DOID:3040

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

COCA 1 [EXACT]

Hereditary Defective Mismatch Repair syndrome [EXACT]

hereditary nonpolyposis colorectal cancer [EXACT]

hereditary nonpolyposis colorectal neoplasm [EXACT]

HNPCC - hereditary nonpolyposis colon cancer [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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