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 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:autosomal recessive nonsyndromic deafness 22
go back to main search page
Accession:DOID:0110480 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. (DO)
Synonyms:exact_synonym: DFNB22;   OTOA-RELATED CONDITION;   autosomal recessive deafness 22
 primary_id: MESH:C564633
 alt_id: MIM:607039;   RDO:0013526


show annotations for term's descendants           Sort by:
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722 		JBrowse link
G Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061 		JBrowse link
G Otoa otoancorin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:607039
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19442771 More... NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435 		JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      Hearing Disorders 848
        Hearing Loss 843
          sensorineural hearing loss 648
            autosomal recessive nonsyndromic deafness 148
              autosomal recessive nonsyndromic deafness 22 4
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    Deafness 386
                      nonsyndromic deafness 223
                        autosomal recessive nonsyndromic deafness 148
                          autosomal recessive nonsyndromic deafness 22 4
paths to the root