Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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
 broad_synonym: FKBP10-RELATED CONDITION
 primary_id: OMIM:610968
 alt_id: RDO:9000622


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FKBP10-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 11		 OMIM
CTD
ClinVar		 PMID:9129737 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        osteochondrodysplasia 861
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 11 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 11 1
paths to the root