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Colorectal Neoplasms, Hereditary Nonpolyposis

Disease ID: disease_node_2182

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DbxrefGARD:9905, MESH:D003123, MIM:PS120435, NCI:C8494, ORDO:144, SNOMEDCT_US_2023_03_01:700064004, UMLS_CUI:C0009405, UMLS_CUI:C4552100
SubclassofDOID_0050736, DOID_225
Data SourceDOID, MESH
SynonymsHNPCC, Hereditary Defective Mismatch Repair syndrome, Hereditary non-polyposis colon cancer, Hereditary non-polyposis colon cancer syndrome, Hereditary non-polyposis colorectal cancer, Hereditary non-polyposis colorectal cancer syndrome, Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer syndrome, Hereditary nonpolyposis colorectal cancer syndrome, hereditary nonpolyposis colorectal cancer, hereditary nonpolyposis colorectal neoplasm
Mesh IdD003123
Mesh LabelColorectal Neoplasms, Hereditary Nonpolyposis
Mesh SubclassofD009386, D015179, D049914
Doid LabelLynch syndrome
Doid DescriptionA 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. OMIM mapping confirmed by DO. [SN].
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_2182
Doid IdDOID_3883
LabelColorectal Neoplasms, Hereditary Nonpolyposis
Doid Alternate IdsDOID_0050586, DOID_3040