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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 ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr17:88,952,635...89,167,538
Ensembl chr17:88,963,981...89,167,018
JBrowse link
G Nefh neurofilament heavy disease_progression IEP RGD PMID:27457532 RGD:27372873 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
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 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
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: IVIC syndrome
ClinVar Annotator: match by OMIM:147750
OMIM
ClinVar
PMID:17256792 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      auditory system disease 754
        Hearing Disorders 614
          Hearing Loss 609
            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 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.