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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: Gardner Syndromes;   Gardner's Syndrome;   Gardner's Syndromes;   Gardners Syndrome
 primary_id: MESH:D005736;   RDO:0000879
For additional species annotation, visit the Alliance of Genome Resources.


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Gardner Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC, WNT signaling pathway regulator JBrowse link 18 27,011,710 27,106,323 RGD:8554872
Adenomatous Polyposis Coli, Attenuated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC, WNT signaling pathway regulator 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 14759
    syndrome 4210
      Gardner Syndrome 2
        Adenomatous Polyposis Coli, Attenuated 2
        Intestinal Polyposis, Osteomas, Sebaceous Cysts 0
        Samson Gardner Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      gastrointestinal system disease 4240
        Digestive System Neoplasms 1883
          Gastrointestinal Neoplasms 1750
            Intestinal Neoplasms 642
              Colorectal Neoplasms 619
                familial adenomatous polyposis 28
                  Gardner Syndrome 2
                    Adenomatous Polyposis Coli, Attenuated 2
                    Intestinal Polyposis, Osteomas, Sebaceous Cysts 0
                    Samson Gardner Syndrome 0
paths to the root