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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 chrNW_004955429:3,172,457...3,358,688
Ensembl chrNW_004955429:3,172,996...3,358,688 		JBrowse link
G Nefh neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107 		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 chrNW_004955410:12,008,067...12,057,147
Ensembl chrNW_004955410:12,009,102...12,059,637 		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 chrNW_004955411:17,177,335...17,229,957
Ensembl chrNW_004955411:17,177,335...17,229,957 		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 chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13345
    sensory system disease 5653
      auditory system disease 814
        Hearing Disorders 661
          Hearing Loss 657
            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 13345
    disease of anatomical entity 13084
      nervous system disease 11139
        sensory system disease 5653
          Otorhinolaryngologic Diseases 1339
            auditory system disease 814
              Hearing Disorders 661
                Hearing Loss 657
                  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