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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 More... NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      bone development disease 1424
        osteochondrodysplasia 479
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 13 2
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Skin and Connective Tissue Diseases 5861
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              osteochondrodysplasia 479
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 13 2
paths to the root