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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 12
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Accession:DOID:0110348 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: OI, TYPE XII;   OI12;   Osteogenesis Imperfecta, Type XII
 primary_id: OMIM:613849
 alt_id: RDO:9000623
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
osteogenesis imperfecta type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: OI, TYPE XII
ClinVar Annotator: match by term: Osteogenesis imperfecta, type XII
ClinVar PMID:20362275, PMID:20839288, PMID:21567934, PMID:22107750, PMID:22949511, PMID:25741868 NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12
ClinVar Annotator: match by OMIM:613849
OMIM
ClinVar
PMID:20579626, PMID:29382611 NCBI chr 7:143,957,316...143,967,488
Ensembl chr 7:143,958,858...143,967,484
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 12 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 12 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.