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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: OI, TYPE XIII;   OI13;   osteogenesis imperfecta type XIII
 primary_id: OMIM:614856
 alt_id: RDO:9000624
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:614856
ClinVar Annotator: match by term: OI, TYPE XIII
ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii
OMIM
ClinVar
PMID:15542026, PMID:22052668, PMID:22482805, PMID:24648371, PMID:25214535, PMID:25402547, PMID:28492532 NCBI chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 13 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 13 2
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.