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ONTOLOGY REPORT - ANNOTATIONS


Term:Gardner Syndrome
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Accession:DOID:9009045 term browser browse the term
Definition:A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
Synonyms:exact_synonym: GS;   Gardner syndromes;   Gardner's Syndromes;   Gardner's syndrome;   Gardners Syndrome
 primary_id: MESH:D005736
 alt_id: RDO:0000879
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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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Gardner Syndrome 2
        Attenuated Adenomatous Polyposis Coli 2
        Intestinal Polyposis, Osteomas, Sebaceous Cysts 0
        Samson Gardner Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      gastrointestinal system disease 4395
        Digestive System Neoplasms 1806
          Gastrointestinal Neoplasms 1664
            Intestinal Neoplasms 662
              Colorectal Neoplasms 641
                familial adenomatous polyposis 28
                  Gardner Syndrome 2
                    Attenuated Adenomatous Polyposis Coli 2
                    Intestinal Polyposis, Osteomas, Sebaceous Cysts 0
                    Samson Gardner Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.