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:autosomal dominant nonsyndromic deafness 5
go back to main search page
Accession:DOID:0110575 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: DFNA5;   autosomal dominant deafness 5
 primary_id: MESH:C563410
 alt_id: OMIM:600994


show annotations for term's descendants           Sort by:
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      Hearing Disorders 818
        Hearing Loss 813
          sensorineural hearing loss 623
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 5 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            Otorhinolaryngologic Diseases 1734
              auditory system disease 991
                Hearing Disorders 818
                  Hearing Loss 813
                    Deafness 373
                      nonsyndromic deafness 216
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 5 1
paths to the root