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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:osteogenesis imperfecta type 17
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Accession:DOID:0110338 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: OI17;   osteogenesis imperfecta type XVII
 primary_id: OMIM:616507


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osteogenesis imperfecta type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126807556 MED14-independent group 3 enhancer GRCh37_chr5:151042798-151043997 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 ClinVar PMID:25741868 PMID:26027498 NCBI chr 5:151,663,237...151,664,436 JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP
EXP		 ClinVar Annotator: match by term: Osteogenesis imperfecta type 17
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25741913 PMID:25741914 PMID:26027498 PMID:28492532 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        osteochondrodysplasia 1231
          osteogenesis imperfecta 76
            osteogenesis imperfecta type 17 2
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 3275
              osteochondrodysplasia 1231
                osteogenesis imperfecta 76
                  osteogenesis imperfecta type 17 2
paths to the root