FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Lynch syndrome ID (Ontology) DOID:3883 (Human Disease)
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.
Also Known As "Hereditary Defective Mismatch Repair syndrome" ; "Hereditary non-polyposis colon cancer" ; "Hereditary non-polyposis colon cancer syndrome" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Lynch syndrome  5 rec.
                                 |__hereditary nonpolyposis colorectal cancer type 2 1 rec.
                                 |__hereditary nonpolyposis colorectal cancer type 4 1 rec.
                                 |__hereditary nonpolyposis colorectal cancer type 5 1 rec.
                                 |__hereditary nonpolyposis colorectal cancer type 6 1 rec.
                                 |__hereditary nonpolyposis colorectal cancer type 7 2 rec.
                                 |__hereditary nonpolyposis colorectal cancer type 8
                                 |__Lynch syndrome 1 1 rec.
                                 |__Muir-Torre syndrome 2 rec.
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Is a autosomal dominant disease
syndrome
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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 OMO:0003012
Secondary IDs
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GARD:9905
MESH:D003123
MIM:PS120435
NCI:C8494
ORDO:144
SNOMEDCT_US_2023_03_01:700064004
UMLS_CUI:C0009405
UMLS_CUI:C4552100