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:Duane Retraction Syndrome 3
go back to main search page
Accession:DOID:9005360 term browser browse the term
Synonyms:exact_synonym: DURS3;   Duane retraction syndrome 3 with or without deafness;   Duane retraction syndrome type 3;   Duane syndrome type 3
 broad_synonym: MAFB-RELATED CONDITION
 primary_id: OMIM:617041


show annotations for term's descendants           Sort by:
Duane Retraction Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness OMIM
ClinVar		 PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532 NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      Duane retraction syndrome 14
        Duane Retraction Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              refractive error 236
                hyperopia 44
                  strabismus 37
                    Duane retraction syndrome 14
                      Duane Retraction Syndrome 3 1
paths to the root