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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
 primary_id: MESH:D005736
 alt_id: RDO:0000879
 xref: NCI:C6728
For additional species annotation, visit the Alliance of Genome Resources.


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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 null
ClinVar Annotator: match by term: Gardner syndrome
ClinVar PMID:1316610, PMID:1651563, PMID:2164769, PMID:2478327, PMID:7485167, PMID:8162051, PMID:8381579, PMID:8381580, PMID:8594558, PMID:9375853, PMID:9487968, PMID:9824584, PMID:9916927, PMID:10094547, PMID:10982189, PMID:11001924, PMID:11317365, PMID:11466687, PMID:12007223, PMID:12173026, PMID:14633595, PMID:15108286, PMID:15311282, PMID:16134147, PMID:16317745, PMID:17135589, PMID:17293347, PMID:18199528, PMID:18433509, PMID:20223039, PMID:20649969, PMID:20685668, PMID:20924072, PMID:21779980, PMID:21859464, PMID:22000517, PMID:22135120, PMID:22703879, PMID:23159591, PMID:23561487, PMID:24033266, PMID:24728327, PMID:24790607, PMID:24841357, PMID:25142776, PMID:25637381, PMID:25741868, PMID:26332594, PMID:26467025, PMID:26613750, PMID:26845104, PMID:26917275, PMID:27435373, PMID:27930734, PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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:8990002, PMID:9950360, PMID:11317365, PMID:20223039, PMID:20685668, PMID:25741868, PMID:28492532, PMID:28944238 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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:26845104, PMID:28492532, PMID:29095867, PMID:29596542 NCBI chr 5:62,718,733...62,751,345
Ensembl chr 5:62,718,787...62,750,145
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      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 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        Gastrointestinal Diseases 2552
          intestinal disease 1514
            colonic disease 1022
              Colorectal Neoplasms 668
                familial adenomatous polyposis 38
                  Gardner Syndrome 2
                    Attenuated Adenomatous Polyposis Coli 2
                    Intestinal Polyposis, Osteomas, Sebaceous Cysts 0
                    Samson Gardner Syndrome 0
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.