Preferred Name |
Colorectal Neoplasms, Hereditary Nonpolyposis |
|
Synonyms |
Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colon Cancer |
|
Definitions |
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. |
|
ID |
http://purl.bioontology.org/ontology/MESH/D003123 |
|
altLabel |
Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Type 1 Lynch Syndrome Colon Cancer, Familial Nonpolyposis Syndrome, Lynch Familial Nonpolyposis Colon Cancer Colon Cancer, Familial Nonpolyposis, Type 1 Colorectal Cancer, Hereditary Nonpolyposis, Type 1 Lynch Cancer Family Syndrome I Colorectal Cancer Hereditary Nonpolyposis Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Type 1 Lynch Syndrome I Hereditary Nonpolyposis Colon Cancer |
|
AQL |
BL BS CF CH CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SC SU TH UL UR VE VI |
|
cui |
C1333990 C0009405 C4552100 C2936783 |
|
DC |
1 |
|
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. HNPCC with no history of associated cancers. |
|
DX |
19870101 |
|
HN |
87 |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000098 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000556 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Machine permutation |
87 |
|
Mapped from |
http://purl.bioontology.org/ontology/MESH/C563456 http://purl.bioontology.org/ontology/MESH/C566039 http://purl.bioontology.org/ontology/MESH/C537261 http://purl.bioontology.org/ontology/MESH/C563972 http://purl.bioontology.org/ontology/MESH/C563971 |
|
MDA |
19860624 |
|
MMR |
20210305 |
|
MN |
C04.588.274.476.411.307.190 C18.452.284.255 C06.405.469.491.307.190 C04.700.250 C06.301.371.411.307.190 C06.405.249.411.307.190 C16.320.700.250 C06.405.469.158.356.190 |
|
notation |
D003123 |
|
prefLabel |
Colorectal Neoplasms, Hereditary Nonpolyposis |
|
TERMUI |
T750094 T001088936 T001088935 T009107 T001088934 T001088937 T529658 T841938 T009106 T009104 T750093 T009103 T529657 T009105 |
|
TH |
NLM (1997) OMIM (2013) NLM (2004) NLM (1987) NLM (1992) UNK (19XX) NLM (2022) NLM (2010) GHR (2014) OMIM (2019) ORD (2010) |
|
tui |
T047 T191 |
|
subClassOf |
http://purl.bioontology.org/ontology/MESH/D015179 |