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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 2
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Accession:DOID:0080410 term browser browse the term
Definition:A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: Adenomas, Multiple Colorectal, Autosomal Recessive;   Colorectal Adenomatous Polyposis, Autosomal Recessive;   FAP2;   MUTYH-related attenuated FAP;   MUTYH-related attenuated familial adenomatous polyposis;   MUTYH-related attenuated familial polyposis coli
 narrow_synonym: COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS
 primary_id: MESH:C563924
 alt_id: OMIM:608456
 xref: ICD10CM:D12.6;   ORDO:247798
For additional species annotation, visit the Alliance of Genome Resources.


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familial adenomatous polyposis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:11818965 PMID:12393807 PMID:12606733 PMID:15635083 PMID:15890374 PMID:15931596 PMID:15987719 PMID:16140997 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16890597 PMID:17219385 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17674103 PMID:17703316 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18506705 PMID:18534194 PMID:18564191 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19394335 PMID:19506731 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20063264 PMID:20191381 PMID:20418187 PMID:20618354 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22266422 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22865608 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23507534 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24953332 PMID:25525159 PMID:25741868 PMID:25820570 PMID:25937855 PMID:26467025 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27705013 PMID:27829682 PMID:28141798 PMID:28152038 PMID:28492532 PMID:28634180 PMID:28944238 PMID:29330641 PMID:30487145 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Hereditary Neoplastic Syndromes 808
        familial adenomatous polyposis 36
          familial adenomatous polyposis 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      gastrointestinal system disease 4655
        Digestive System Neoplasms 1917
          Gastrointestinal Neoplasms 1776
            Intestinal Neoplasms 693
              Colorectal Neoplasms 672
                familial adenomatous polyposis 36
                  familial adenomatous polyposis 2 1
paths to the root