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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:15728585 PMID:16407265 PMID:17206620 PMID:23692737 PMID:25944380 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: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
OMIM
ClinVar
PMID:10982177 PMID:11288717 PMID:23692737 PMID:25741868 PMID:25944380 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 17289
    syndrome 8166
      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 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          blood coagulation disease 651
            hemorrhagic disease 641
              vascular hemostatic disease 318
                Ehlers-Danlos syndrome 116
                  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