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 5
go back to main search page
Accession:DOID:0110344 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: OI, TYPE V;   OI5;   osteogenesis imperfecta type V
 primary_id: MESH:C567042
 alt_id: OMIM:610967
 xref: GARD:8699


show annotations for term's descendants           Sort by:
osteogenesis imperfecta type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifitm5 interferon induced transmembrane protein 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis imperfecta type 5
OMIM:610967		 OMIM
CTD
ClinVar
MouseDO		 PMID:22863190 PMID:22863195 PMID:23977282 PMID:24478195 PMID:24519609 More... NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372 		JBrowse link
G Suco SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      bone development disease 2304
        osteochondrodysplasia 860
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 5 3
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      Skin and Connective Tissue Diseases 7436
        connective tissue disease 5761
          bone disease 4272
            bone development disease 2304
              osteochondrodysplasia 860
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 5 3
paths to the root