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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:familial adenomatous polyposis 3
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Accession:DOID:0080411 term browser browse the term
Definition:A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: FAP3;   NTHL1-RELATED CONDITION
 primary_id: MIM:616415


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familial adenomatous polyposis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nthl1 nth (endonuclease III)-like 1 (E.coli) ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 3 | ClinVar Annotator: match by term: NTHL1-related condition OMIM
ClinVar		 PMID:9536098 PMID:9705289 PMID:12840008 PMID:16199547 PMID:17576681 More... NCBI chr17:24,851,656...24,857,812
Ensembl chr17:24,851,654...24,857,811 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: NTHL1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    syndrome 10771
      Hereditary Neoplastic Syndromes 1526
        familial adenomatous polyposis 407
          familial adenomatous polyposis 3 2
Path 2
Term Annotations click to browse term
  disease 16230
    disease of cellular proliferation 7742
      Neoplasms by Site 7201
        Digestive System Neoplasms 3838
          Gastrointestinal Neoplasms 3714
            Intestinal Neoplasms 1810
              Colorectal Neoplasms 1791
                familial adenomatous polyposis 407
                  familial adenomatous polyposis 3 2
paths to the root