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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: MIM: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:1770532 PMID:2037280 PMID:2794057 PMID:2894346 PMID:7691343 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:9536098 PMID:10027910 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 19137
    syndrome 11372
      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 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              Skin Abnormalities 1321
                Ehlers-Danlos syndrome 257
                  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