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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 IAGP ClinVar Annotator: match by term: OIEDS SYNDROME 1
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 chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G LOC126862586 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 IAGP ClinVar Annotator: match by term: OIEDS SYNDROME 1 ClinVar PMID:7695699 PMID:8218237 PMID:8613526 PMID:9016532 PMID:12362985 More... NCBI chr17:50,196,341...50,197,540 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 IAGP ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
ClinVar Annotator: match by term: OIEDS SYNDROME 2
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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 3
        Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 2
        Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3274
              osteochondrodysplasia 1231
                osteogenesis imperfecta 76
                  Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 3
                    Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 2
                    Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 1
paths to the root