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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 16085
    syndrome 7041
      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 16085
    disease of anatomical entity 15340
      gastrointestinal system disease 4643
        Gastrointestinal Diseases 2558
          intestinal disease 1517
            colonic disease 1025
              Colorectal Neoplasms 673
                familial adenomatous polyposis 37
                  Gardner Syndrome 2
                    Attenuated Adenomatous Polyposis Coli 2
                    Intestinal Polyposis, Osteomas, Sebaceous Cysts 0
                    Samson Gardner Syndrome 0
paths to the root