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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
 xref: OMIM:PS619115


show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 OMIM
ClinVar		 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8456808 PMID:8613526 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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 ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:10027910 PMID:10982177 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      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 21122
    disease of anatomical entity 18162
      Skin and Connective Tissue Diseases 7360
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              osteochondrodysplasia 850
                osteogenesis imperfecta 49
                  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