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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:Unilateral Deafness with Delayed Endolymphatic Hydrops
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Accession:DOID:9001197 term browser browse the term
Synonyms:primary_id: MESH:C567420
For additional species annotation, visit the Alliance of Genome Resources.



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Unilateral Deafness with Delayed Endolymphatic Hydrops term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phex phosphate regulating endopeptidase homolog, X-linked ISO DNA:mutation:cds: RGD PMID:18289812 RGD:11556245 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      auditory system disease 976
        Hearing Disorders 801
          Hearing Loss 797
            Unilateral Deafness with Delayed Endolymphatic Hydrops 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1557
            auditory system disease 976
              Hearing Disorders 801
                Hearing Loss 797
                  Unilateral Deafness with Delayed Endolymphatic Hydrops 1
paths to the root