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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 Familial Adenomatous Polyposis
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Accession:DOID:9006802 term browser browse the term
Synonyms:exact_synonym: AFAP;   FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED
 primary_id: MESH:C538265
 alt_id: RDO:0004223


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Attenuated Familial Adenomatous Polyposis 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: Attenuated familial adenomatous polyposis ClinVar PMID:9585611 PMID:11257105 PMID:12034871 PMID:16461775 PMID:17963004 More... NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Hereditary Neoplastic Syndromes 1526
        familial adenomatous polyposis 402
          Attenuated Familial Adenomatous Polyposis 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of cellular proliferation 7891
      Neoplasms by Site 7333
        Digestive System Neoplasms 3850
          Gastrointestinal Neoplasms 3727
            Intestinal Neoplasms 1809
              Colorectal Neoplasms 1791
                familial adenomatous polyposis 402
                  Attenuated Familial Adenomatous Polyposis 1
paths to the root