loading...| Preferred Name |
Adenomatous Polyposis Coli |
|
| Synonyms |
Coli, Familial Polyposis Coli, Adenomatous Polyposis |
|
| Definitions |
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D011125 |
|
| altLabel |
Coli, Familial Polyposis Familial Polyposis Syndromes Myh Associated Polyposis Colus, Adenomatous Polyposis Adenomatous Polyposis, Familial Familial Adenomatous Polyposis Coli Familial Adenomatous Polyposis Adenomatous Intestinal Polyposis Adenomatous Polyposes, Familial Multiple Polyposis, Familial Adenomatous Polyposis of the Colon Polyposis, Familial Multiple Colus, Hereditary Polyposis Familial Polyposis Coli Intestinal Polyposes, Familial Polyposis Colus Hereditary Polyposis Coli Polyposis Colus, Familial Familial Multiple Polyposi Polyposes, Familial Multiple Polyposis Coli, Adenomatous Familial Intestinal Polyposes Familial Multiple Polyposis Intestinal Polyposis, Familial Coli, Hereditary Polyposis Polyposis Syndrome, Familial Polyposis, Familial Adenomatous Familial Polyposis of the Colon Familial Multiple Polyposis Syndrome Colus, Polyposis Polyposis Coli Adenomatous Intestinal Polyposes Polyposis, Myh-Associated Familial Adenomatous Polyposis of the Colon Polyposes, Myh-Associated Polyposi, Familial Multiple Familial Adenomatous Polyposes Adenomatous Polyposis Colus Familial Intestinal Polyposis Adenomatous Polyposis Coli, Familial Polyposis, Adenomatous Intestinal Hereditary Polyposis Colus Multiple Polyposes, Familial Familial Polyposis Colus Familial Multiple Polyposus Polyposis Coli, Familial Familial Multiple Polyposes Familial Polyposis Syndrome Polyposus, Familial Multiple Polyposis Colus, Hereditary Myh-Associated Polyposes Polyposis Colus, Adenomatous Polyposis Coli, Hereditary Multiple Polyposi, Familial Multiple Polyposus, Familial Coli, Polyposis Colus, Familial Polyposis Polyposes, Familial Adenomatous Myh-Associated Polyposis Intestinal Polyposis, Adenomatous Coli, Adenomatous Polyposis |
|
| AQL |
BL BS CF CH CI CL CN 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 |
C2713442 C0032580 C2713443 |
|
| DC |
1 |
|
| definition |
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. |
|
| DX |
19870101 |
|
| FX |
D005736 D025601 D017491 |
|
| HN |
1994; use POLYPOSIS SYNDROME, FAMILIAL 1987-1993; for ADENOMATOUS POLYPOSIS COLI, FAMILIAL use POLYPOSIS SYNDROME, FAMILIAL 1993 |
|
| 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/Q000151 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 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D017491 |
|
| Machine permutation |
1994; see POLYPOSIS SYNDROME, FAMILIAL 1987-1993; for ADENOMATOUS POLYPOSIS COLI, FAMILIALsee POLYPOSIS SYNDROME, FAMILIAL 1993 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C563924 http://purl.bioontology.org/ontology/MESH/C535944 http://purl.bioontology.org/ontology/MESH/C563365 http://purl.bioontology.org/ontology/MESH/C538265 |
|
| MDA |
19860623 |
|
| MMR |
20150601 |
|
| MN |
C16.320.700.100 C04.588.274.476.411.307.089 C06.405.249.411.307.090 C06.301.371.411.307.090 C04.700.100 C06.405.469.491.307.090 C04.557.470.035.215.100 C06.405.469.158.356.090 C06.405.469.578.249 |
|
| notation |
D011125 |
|
| prefLabel |
Adenomatous Polyposis Coli |
|
| TERMUI |
T753174 T032736 T841365 T750944 T032733 T032735 T032737 T841367 T841368 T750946 T529633 T841369 T753175 T435872 T032734 T750947 T750945 T841366 T529634 |
|
| TH |
NLM (2002) NLM (2004) NLM (1993) NLM (1987) NLM (1994) UNK (19XX) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 T191 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D044483 http://purl.bioontology.org/ontology/MESH/D018256 |