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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
 xref: MIM:619131;   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 chr12:16,252,424...16,270,737
Ensembl chr12:16,252,424...16,270,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        osteochondrodysplasia 839
          osteogenesis imperfecta 65
            osteogenesis imperfecta type 21 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              osteochondrodysplasia 839
                osteogenesis imperfecta 65
                  osteogenesis imperfecta type 21 1
paths to the root