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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 13
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Accession:DOID:0110342 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. (DO)
Synonyms:exact_synonym: BMP1-RELATED CONDITION;   OI, TYPE XIII;   OI13;   osteogenesis imperfecta type XIII
 primary_id: OMIM:614856
 alt_id: RDO:9000624


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osteogenesis imperfecta type 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMP1-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15542026 PMID:17576681 PMID:22052668 PMID:22482805 More... NCBI chr14:70,711,998...70,758,280
Ensembl chr14:70,711,998...70,757,674 		JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii ClinVar NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      bone development disease 2297
        osteochondrodysplasia 864
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 13 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Skin and Connective Tissue Diseases 6944
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2297
              osteochondrodysplasia 864
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 13 2
paths to the root