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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 Hearing Loss
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Accession:DOID:9001767 term browser browse the term
Definition:Partial or complete hearing loss in one ear.
Synonyms:exact_synonym: unilateral deafness
 primary_id: MESH:D046088
 alt_id: OMIM:125000


show annotations for term's descendants           Sort by:
Unilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Nefh neurofilament heavy chain disease_progression IEP RGD PMID:27457532 RGD:27372873 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
Unilateral Deafness with Delayed Endolymphatic Hydrops term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phex phosphate regulating endopeptidase 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      Hearing Disorders 820
        Hearing Loss 815
          Unilateral Hearing Loss 4
            Hearing Loss, Unilateral Sensorineural 0
            Unilateral Deafness with Delayed Endolymphatic Hydrops 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Hearing Disorders 820
                  Hearing Loss 815
                    Unilateral Hearing Loss 4
                      Hearing Loss, Unilateral Sensorineural 0
                      Unilateral Deafness with Delayed Endolymphatic Hydrops 1
paths to the root