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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
 alt_id: RDO:9001508
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sparc secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvii OMIM
ClinVar
PMID:26027498 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 17 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 17 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.