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 77
go back to main search page
Accession:DOID:0112168 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. (DO)
Synonyms:exact_synonym: DFNA77;   autosomal dominant deafness 77
 primary_id: OMIM:618915


show annotations for term's descendants           Sort by:
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:31273342 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 627
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 77 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
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 376
                      nonsyndromic deafness 217
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 77 1
paths to the root