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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 1
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Accession:DOID:0080409 term browser browse the term
Definition:A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. (DO)
Synonyms:exact_synonym: FAP1;   adenocarcinoma in adenomatous polyposis coli
 xref: ICDO:8220/3;   MIM:175100;   MONDO:0021056


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familial adenomatous polyposis 1 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: Familial adenomatous polyposis 1 OMIM
ClinVar		 PMID:950360 PMID:1316610 PMID:1317264 PMID:1319115 PMID:1319838 More... NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:12606733 PMID:16287072 PMID:17161978 PMID:17581577 PMID:17949294 More... NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:135,517,695...135,522,776 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:32239880 PMID:33980861 PMID:34367820 NCBI chr10:14,160,334...14,166,502
Ensembl chr10:14,160,330...14,166,966 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:25741868 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:10,225,204...10,241,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Hereditary Neoplastic Syndromes 611
        familial adenomatous polyposis 50
          familial adenomatous polyposis 1 4
Path 2
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      Neoplasms by Site 5164
        Digestive System Neoplasms 2337
          Gastrointestinal Neoplasms 2202
            Intestinal Neoplasms 1003
              Colorectal Neoplasms 978
                familial adenomatous polyposis 50
                  familial adenomatous polyposis 1 4
paths to the root