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 Behavioral & Substance Use Disorder 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 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
Advanced Search (OLGA)

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 20
go back to main search page
Accession:DOID:0111849 term browser browse the term
Definition:An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. (DO)
Synonyms:exact_synonym: MESD-RELATED CONDITION;   OI20;   osteogenesis imperfecta type XX
 primary_id: MIM:618644


show annotations for term's descendants           Sort by:
osteogenesis imperfecta type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: MESD-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31564437 PMID:33596325 NCBI chr 1:147,275,904...147,289,134
Ensembl chr 1:147,275,396...147,289,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        osteochondrodysplasia 839
          osteogenesis imperfecta 65
            osteogenesis imperfecta type 20 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              osteochondrodysplasia 839
                osteogenesis imperfecta 65
                  osteogenesis imperfecta type 20 1
paths to the root