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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-DEFICIENCY TUMOR PREDISPOSITION SYNDROME;   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-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 3 | ClinVar Annotator: match by term: NTHL1-deficiency tumor predisposition syndrome | ClinVar Annotator: match by term: NTHL1-related condition OMIM
ClinVar		 PMID:9536098 PMID:9705289 PMID:12840008 PMID:16199547 PMID:17576681 More... NCBI chr10:14,160,334...14,166,502
Ensembl chr10:14,160,330...14,166,966 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: NTHL1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Hereditary Neoplastic Syndromes 1550
        familial adenomatous polyposis 402
          familial adenomatous polyposis 3 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Site 7344
        Digestive System Neoplasms 3851
          Gastrointestinal Neoplasms 3731
            Intestinal Neoplasms 1815
              Colorectal Neoplasms 1797
                familial adenomatous polyposis 402
                  familial adenomatous polyposis 3 2
paths to the root