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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:OI/EDS Combined Syndrome
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Accession:DOID:9008741 term browser browse the term
Synonyms:primary_id: MESH:C565178;   RDO:0013899
For additional species annotation, visit the Alliance of Genome Resources.


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OI/EDS Combined Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by null ClinVar PMID:15728585, PMID:16407265 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      OI/EDS Combined Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          blood coagulation disease 623
            hemorrhagic disease 610
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  OI/EDS Combined Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.