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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:Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome
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Accession:DOID:9008741 term browser browse the term
Synonyms:exact_synonym: OI/EDS combined syndrome
 primary_id: MESH:C565178
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Combined Osteogenesis Imperfecta and Ehlers-Danlos 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
JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO OMIM NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2
        Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 1
        Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          blood coagulation disease 627
            hemorrhagic disease 614
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2
                    Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 1
                    Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 1
paths to the root