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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 2
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Accession:DOID:0111686 term browser browse the term
Definition:A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in BMPR1A on chromosome 10q23.2. (DO)
Synonyms:exact_synonym: HMPS2
 primary_id: MESH:C566451
 alt_id: OMIM:610069
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary mixed polyposis syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by OMIM:610069 OMIM
ClinVar
PMID:16525031 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Hereditary Neoplastic Syndromes 811
        familial adenomatous polyposis 37
          hereditary mixed polyposis syndrome 3
            hereditary mixed polyposis syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      gastrointestinal system disease 4643
        Gastrointestinal Diseases 2558
          intestinal disease 1517
            rectal disease 885
              Colorectal Neoplasms 673
                familial adenomatous polyposis 37
                  hereditary mixed polyposis syndrome 3
                    hereditary mixed polyposis syndrome 2 1
paths to the root