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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:hereditary mixed polyposis syndrome 1
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Accession:DOID:0111685 term browser browse the term
Definition:A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. (DO)
Synonyms:exact_synonym: CRAC1;   HMPS1;   chromosome 15q13-q14 duplication syndrome, 40-KB
 narrow_synonym: CRCS4;   colorectal adenoma and carcinoma 1;   colorectal cancer, susceptibility to, 4;   colorectal cancer, susceptibility to, on chromosome 15
 primary_id: MESH:C563365
 alt_id: OMIM:601228
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary mixed polyposis syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome 1 ClinVar PMID:22561515 NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      chromosomal duplication syndrome 748
        hereditary mixed polyposis syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      gastrointestinal system disease 5740
        Gastrointestinal Diseases 3787
          intestinal disease 2061
            rectal disease 1320
              Colorectal Neoplasms 1134
                familial adenomatous polyposis 36
                  hereditary mixed polyposis syndrome 3
                    hereditary mixed polyposis syndrome 1 1
paths to the root