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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:Sensorineural Deafness with Mild Renal Dysfunction
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Accession:DOID:9001996 term browser browse the term
Synonyms:primary_id: MESH:C567544;   RDO:0015595
For additional species annotation, visit the Alliance of Genome Resources.


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Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction
ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Bartter disease 9
        Sensorineural Deafness with Mild Renal Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          Otorhinolaryngologic Diseases 1154
            auditory system disease 741
              Hearing Disorders 601
                Hearing Loss 597
                  sensorineural hearing loss 488
                    Sensorineural Deafness with Mild Renal Dysfunction 1
paths to the root