Disease Browser
Parent Node: Colorectal Neoplasms (D015179) Parent Node: DNA Repair-Deficiency Disorders (D049914) Parent Node: Neoplastic Syndromes, Hereditary (D009386) ..Starting node .. Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) Child Nodes:
........Colorectal cancer, hereditary nonpolyposis, type 1 (C535972) ........Colorectal Cancer, Hereditary Nonpolyposis, Type 3 (C563972) ........Colorectal Cancer, Hereditary Nonpolyposis, Type 4 (C563971) ........Colorectal Cancer, Hereditary Nonpolyposis, Type 5 (C563456) ........Colorectal Cancer, Hereditary Nonpolyposis, Type 6 (C566039) ........Colorectal Cancer, Hereditary Nonpolyposis, Type 7 (C565777) ........Colorectal Cancer, Hereditary Nonpolyposis, Type 8 (C567685) ........Lynch syndrome I (site-specific colonic cancer) (C537261) ........Lynch Syndrome II (D055847) 1 Sister Nodes: ..Adenomatous Polyposis Coli (D011125) 10 ..Basal Cell Nevus Syndrome (D001478) 1 ..Birt-Hogg-Dube Syndrome (D058249) ..Cancer, Familial, with In Vitro Radioresistance (C566179) ..Collagenoma, Familial Cutaneous (C562925) ..Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) 10 ..Diaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169) ..Dysplastic Nevus Syndrome (D004416) ..Exostoses, Multiple Hereditary (D005097) 14 ..Familial cylindromatosis (C536611) ..Genochondromatosis (C563215) ..Hamartoma Syndrome, Multiple (D006223) 10 ..Hemangioma, capillary infantile (C535860) ..Hereditary Breast and Ovarian Cancer Syndrome (D061325) ..Juvenile polyposis syndrome (C537702) ..Li-Fraumeni Syndrome (D016864) 4 ..Melanoma-Pancreatic Cancer Syndrome (C563985) ..Meningioma, familial (C537443) ..Multiple Endocrine Neoplasia (D009377) 6 ..Myelocytic leukemia-like syndrome, familial, chronic (C536093) ..Neurofibromatoses (D017253) 13 ..Paragangliomas 2 (C566646) ..Paragangliomas 3 (C565335) ..Peutz-Jeghers Syndrome (D010580) ..Prostate Cancer, Hereditary, 12 (C567510) ..Trichoepithelioma multiple familial (C536552) ..Tuberous Sclerosis (D014402) 4 ..Turcot syndrome (C536928) ..Wilms Tumor (D009396) 10 Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 2517
Name: Colorectal Neoplasms, Hereditary Nonpolyposis
Definition: A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
Alternative IDs:
ParentIDs: MESH:D009386|MESH:D015179|MESH:D049914
TreeNumbers: C04.588.274.476.411.307.190 |C04.700.250 |C06.301.371.411.307.190 |C06.405.249.411.307.190 |C06.405.469.158.356.190 |C06.405.469.491.307.190 |C16.320.700.250 |C18.452.284.255
Synonyms: Colon Cancer, Familial Nonpolyposis |Colorectal Cancer Hereditary Nonpolyposis |Familial Nonpolyposis Colon Cancer |Hereditary Nonpolyposis Colon Cancer |Hereditary Nonpolyposis Colorectal Cancer |Hereditary Nonpolyposis Colorectal Neoplasms |Lynch Cancer Fami
Slim Mappings: Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease
Reference:
MedGen: D003123
MeSH: D003123
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants