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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.



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 IAGP DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532
JBrowse link
G NEFH neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
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 IAGP ClinVar Annotator: match by term: Oculootoradial syndrome
ClinVar Annotator: match by term: IVIC syndrome
ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders
OMIM
ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21668
    sensory system disease 7192
      auditory system disease 1092
        Hearing Disorders 906
          Hearing Loss 901
            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 21668
    disease of anatomical entity 20318
      nervous system disease 16312
        sensory system disease 7192
          Otorhinolaryngologic Diseases 1725
            auditory system disease 1092
              Hearing Disorders 906
                Hearing Loss 901
                  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