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 Community Projects (beta) QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) 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 GERRC (Gene Editing Rat Resource Center) 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:Bilateral Hearing Loss
go back to main search page
Accession:DOID:9006380 term browser browse the term
Definition:Partial hearing loss in both ears.
Synonyms:exact_synonym: Bilateral Hearing Losses
 primary_id: MESH:D006312
 alt_id: RDO:0000494


show annotations for term's descendants           Sort by:
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042 		JBrowse link
G Nefh neurofilament heavy chain disease_progression IEP RGD PMID:27457532 RGD:27372873 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders		 OMIM
CTD
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    sensory system disease 6883
      Hearing Disorders 785
        Hearing Loss 781
          Bilateral Hearing Loss 5
            Bagatelle Cassidy Syndrome 0
            Feigenbaum Bergeron Richardson Syndrome 0
            Forney Robinson Pascoe Syndrome 1
            Hagemoser Weinstein Bresnick Syndrome 0
            IVIC syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10744
        Neurologic Manifestations 9982
          sensory system disease 6883
            Otorhinolaryngologic Diseases 1699
              auditory system disease 955
                Hearing Disorders 785
                  Hearing Loss 781
                    Bilateral Hearing Loss 5
                      Bagatelle Cassidy Syndrome 0
                      Feigenbaum Bergeron Richardson Syndrome 0
                      Forney Robinson Pascoe Syndrome 1
                      Hagemoser Weinstein Bresnick Syndrome 0
                      IVIC syndrome 1
paths to the root