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Metadata
DOID DOID:3883
Name Lynch syndrome
Definition An autosomal dominant disease 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

NCI2004_11_17:C6725

NCI2004_11_17:C8494

NCI:C120083

NCI:C8494

OMIM:120435

OMIM:609310

OMIM:613244

OMIM:614331

OMIM:614337

OMIM:614350

OMIM:614385

ORDO:144

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 non-polyposis colon cancer type 1 [EXACT]

hereditary nonpolyposis colorectal cancer [EXACT]

hereditary nonpolyposis colorectal neoplasm [EXACT]

HNPCC - hereditary nonpolyposis colon cancer [EXACT]

Relationships

is_a autosomal dominant disease

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