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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME
 primary_id: MESH:D005736
 xref: NCI:C6728


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Gardner Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Gardner syndrome ClinVar PMID:1316610 PMID:1651174 PMID:1651563 PMID:2164769 PMID:2478327 More... NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610 PMID:1324223 PMID:7661930 PMID:8990002 PMID:9950360 More... NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:24357849 More... NCBI chr 5:66,180,171...66,208,931
Ensembl chr 5:66,180,164...66,208,938 		JBrowse link
Intestinal Polyposis, Osteomas, Sebaceous Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Intestinal polyposis, osteomas, sebaceous cysts ClinVar PMID:25741868 PMID:25980754 PMID:28492532 PMID:29684080 NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Gardner Syndrome 2
        Attenuated Adenomatous Polyposis Coli 2
        Intestinal Polyposis, Osteomas, Sebaceous Cysts 1
        Samson Gardner Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Site 7344
        Digestive System Neoplasms 3851
          Gastrointestinal Neoplasms 3731
            Intestinal Neoplasms 1815
              Colorectal Neoplasms 1797
                familial adenomatous polyposis 402
                  Gardner Syndrome 2
                    Attenuated Adenomatous Polyposis Coli 2
                    Intestinal Polyposis, Osteomas, Sebaceous Cysts 1
                    Samson Gardner Syndrome 0
paths to the root