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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:Attenuated Adenomatous Polyposis Coli
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Accession:DOID:9002232 term browser browse the term
Synonyms:exact_synonym: Brain Tumor-Polyposis Syndrome 2
 primary_id: MESH:C566778
 alt_id: RDO:0015032
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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.