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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 21
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Accession:DOID:0112201 term browser browse the term
Definition:An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. (DO)
Synonyms:exact_synonym: OI21;   osteogenesis imperfecta type XXI
 primary_id: OMIM:619131
 xref: MONDO:0030861


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osteogenesis imperfecta type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 OMIM
ClinVar		 PMID:25741868 PMID:33053334 PMID:33964184 NCBI chr12:11,138,820...11,157,117
Ensembl chr12:11,138,820...11,157,153 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      bone development disease 2307
        osteochondrodysplasia 861
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 21 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 21 1
paths to the root