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ONTOLOGY REPORT - ANNOTATIONS


Term:familial adenomatous polyposis
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Accession:DOID:0050424 term browser browse the term
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.
Synonyms:exact_synonym: APC;   Adenomatous Intestinal Polyposis;   Adenomatous Polyposis Coli;   Adenomatous Polyposis Colus;   Adenomatous Polyposis of the Colon;   FPC;   Familial Adenomatous Polyposes;   Familial Adenomatous Polyposis Coli;   Familial Adenomatous Polyposis of the Colon;   Familial Intestinal Polyposes;   Familial Intestinal Polyposis;   Familial Multiple Polyposes;   Familial Multiple Polyposi;   Familial Multiple Polyposis;   Familial Multiple Polyposis Syndrome;   Familial Multiple Polyposus;   Familial Polyposis Coli;   Familial Polyposis Colus;   Familial Polyposis Syndrome;   Familial Polyposis Syndromes;   Familial Polyposis of the Colon;   Hereditary Polyposis Coli;   Hereditary Polyposis Colus;   Myh Associated Polyposis;   Myh-Associated Polyposes;   adenomatous colonic polyposis;   adenomatous intestinal polyposes;   polyposis coli;   polyposis colus
 narrow_synonym: AAPC;   ADENOMATOUS POLYPOSIS COLI, ATTENUATED;   AFAP;   BRAIN TUMOR-POLYPOSIS SYNDROME 2;   BTPS2;   FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED;   HEREDITARY MIXED POLYPOSIS;   POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME
 related_synonym: APC-ASSOCIATED POLYPOSIS DISORDERS
 primary_id: MESH:D011125
 alt_id: RDO:0001322
 xref: GARD:6408;   NCI:C3339;   OMIM:PS175100
For additional species annotation, visit the Alliance of Genome Resources.


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familial adenomatous polyposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:11554173
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:2293188
RGD:8554872
RGD:11554173
RGD:1601201
RGD:1331525
G ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon RGD:1601201
G Cd44 CD44 molecule (Indian blood group) JBrowse link 3 92,695,083 92,783,820 RGD:11554173
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 JBrowse link 1 256,382,861 256,386,729 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:11554173
G Fmo3 flavin containing dimethylaniline monoxygenase 3 JBrowse link 13 80,837,418 80,856,214 RGD:11554173
G Grem1 gremlin 1, DAN family BMP antagonist JBrowse link 3 105,203,309 105,214,989 RGD:11554173
G Hdac2 histone deacetylase 2 JBrowse link 20 43,084,870 43,108,198 RGD:9590246
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:11528847
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 JBrowse link 16 6,970,367 6,985,538 RGD:11554173
G Lrg1 leucine-rich alpha-2-glycoprotein 1 JBrowse link 9 10,952,424 10,954,664 RGD:11554173
G Mcc MCC regulator of WNT signaling pathway JBrowse link 18
1
35,683,185
12,006,663
35,817,117
12,128,849
RGD:11554173
G Msh3 mutS homolog 3 JBrowse link 2 21,790,048 21,931,791 RGD:11554173
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:1600191
RGD:8554872
RGD:11554173
G Nthl1 nth-like DNA glycosylase 1 JBrowse link 10 13,996,660 14,002,827 RGD:11554173
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Reep5 receptor accessory protein 5 JBrowse link 18 27,128,462 27,159,693 RGD:8554872
G Scg5 secretogranin V JBrowse link 3 105,235,065 105,279,475 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Srp19 signal recognition particle 19 JBrowse link 18 27,114,822 27,121,062 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 JBrowse link 5 62,718,733 62,751,345 RGD:8554872
familial adenomatous polyposis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
RGD:7240710
G Reep5 receptor accessory protein 5 JBrowse link 18 27,128,462 27,159,693 RGD:8554872
G Srp19 signal recognition particle 19 JBrowse link 18 27,114,822 27,121,062 RGD:8554872
familial adenomatous polyposis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:7240710
RGD:8554872
familial adenomatous polyposis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nthl1 nth-like DNA glycosylase 1 JBrowse link 10 13,996,660 14,002,827 RGD:7240710
RGD:8554872
familial adenomatous polyposis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msh3 mutS homolog 3 JBrowse link 2 21,790,048 21,931,791 RGD:8554872
RGD:7240710
Gardner Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:8554872
Hereditary Desmoid Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:7240710
RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
Hereditary Mixed Polyposis Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grem1 gremlin 1, DAN family BMP antagonist JBrowse link 3 105,203,309 105,214,989 RGD:8554872
Hereditary Mixed Polyposis Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scg5 secretogranin V JBrowse link 3 105,235,065 105,279,475 RGD:8554872
Hereditary Mixed Polyposis Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:7240710
RGD:8554872
SESSILE SERRATED POLYPOSIS CANCER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf43 ring finger protein 43 JBrowse link 10 74,956,411 75,028,951 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of cellular proliferation 5784
      Hereditary Neoplastic Syndromes 765
        familial adenomatous polyposis 28
          Acute Myelocytic Leukemia with Polyposis Coli and Colon Cancer 0
          Attenuated Familial Adenomatous Polyposis 0
          Gardner Syndrome + 2
          Hereditary Desmoid Disease 2
          Hereditary Mixed Polyposis Syndrome + 3
          SESSILE SERRATED POLYPOSIS CANCER SYNDROME 1
          familial adenomatous polyposis 1 3
          familial adenomatous polyposis 2 1
          familial adenomatous polyposis 3 1
          familial adenomatous polyposis 4 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      gastrointestinal system disease 4366
        Digestive System Neoplasms 1954
          Gastrointestinal Neoplasms 1819
            Intestinal Neoplasms 657
              Colorectal Neoplasms 635
                familial adenomatous polyposis 28
                  Acute Myelocytic Leukemia with Polyposis Coli and Colon Cancer 0
                  Attenuated Familial Adenomatous Polyposis 0
                  Gardner Syndrome + 2
                  Hereditary Desmoid Disease 2
                  Hereditary Mixed Polyposis Syndrome + 3
                  SESSILE SERRATED POLYPOSIS CANCER SYNDROME 1
                  familial adenomatous polyposis 1 3
                  familial adenomatous polyposis 2 1
                  familial adenomatous polyposis 3 1
                  familial adenomatous polyposis 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.