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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 11
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Accession:DOID:0110351 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: OI, TYPE XI;   OI11;   osteogenesis imperfecta type XI
 primary_id: OMIM:610968
 alt_id: RDO:9000622
For additional species annotation, visit the Alliance of Genome Resources.



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osteogenesis imperfecta type 11 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 OMIM:610968
ClinVar Annotator: match by term: OI, TYPE XI
ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI
OMIM
ClinVar
PMID:20362275 PMID:20839288 PMID:21567934 PMID:25741868 PMID:27362741 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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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 11 1
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 11 1
paths to the root