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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
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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
JBrowse link
G NEFH neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
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 chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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 chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850
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 ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    sensory system disease 6027
      auditory system disease 886
        Hearing Disorders 724
          Hearing Loss 720
            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 14631
    disease of anatomical entity 14316
      nervous system disease 12142
        sensory system disease 6027
          Otorhinolaryngologic Diseases 1448
            auditory system disease 886
              Hearing Disorders 724
                Hearing Loss 720
                  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