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 82
go back to main search page
Accession:DOID:9001133 term browser browse the term
Definition:Characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Caused by heterozygous mutation in the ATP2B2 gene on chromosome 3p26.
Synonyms:exact_synonym: ATP2B2-RELATED PROGRESSIVE HEARING IMPAIRMENT;   DFNA82;   autosomal dominant deafness 82
 broad_synonym: ATP2B2-RELATED DISORDER
 primary_id: MIM:619804

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Autosomal Dominant Nonsyndromic Deafness 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 ClinVar
OMIM		 PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    sensory system disease 6227
      Hearing Disorders 724
        Hearing Loss 719
          sensorineural hearing loss 542
            autosomal dominant nonsyndromic deafness 76
              Autosomal Dominant Nonsyndromic Deafness 82 1
Path 2
Term Annotations click to browse term
  disease 14093
    Pathological Conditions, Signs and Symptoms 11033
      Signs and Symptoms 9160
        Neurologic Manifestations 8868
          sensory system disease 6227
            Otorhinolaryngologic Diseases 1564
              auditory system disease 885
                Hearing Disorders 724
                  Hearing Loss 719
                    Deafness 352
                      nonsyndromic deafness 204
                        autosomal dominant nonsyndromic deafness 76
                          Autosomal Dominant Nonsyndromic Deafness 82 1
paths to the root