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:Conductive Deafness with Ptosis and Skeletal Anomalies
go back to main search page
Accession:DOID:9008149 term browser browse the term
Synonyms:exact_synonym: Deafness Conductive Ptosis Skeletal Anomalies;   Jackson Barr syndrome
 primary_id: MESH:C535993
 alt_id: MIM:221320


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35758
    Developmental Disease 28592
      bone development disease 3282
        Conductive Deafness with Ptosis and Skeletal Anomalies 0
Path 2
Term Annotations click to browse term
  disease 35758
    disease of anatomical entity 32522
      nervous system disease 26418
        Neurologic Manifestations 15493
          sensory system disease 9842
            Otorhinolaryngologic Diseases 2287
              auditory system disease 1343
                Hearing Disorders 1143
                  Hearing Loss 1137
                    Conductive Hearing Loss 11
                      Conductive Deafness with Ptosis and Skeletal Anomalies 0
paths to the root