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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:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		JBrowse link
G NEFH neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534 		JBrowse link
Hearing Loss, Unilateral Sensorineural term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA88 MHC class I DLA-88 ISO Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphism:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		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:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      Hearing Disorders 772
        Hearing Loss 767
          Unilateral Hearing Loss 5
            Hearing Loss, Unilateral Sensorineural 1
            Unilateral Deafness with Delayed Endolymphatic Hydrops 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            Otorhinolaryngologic Diseases 1672
              auditory system disease 948
                Hearing Disorders 772
                  Hearing Loss 767
                    Unilateral Hearing Loss 5
                      Hearing Loss, Unilateral Sensorineural 1
                      Unilateral Deafness with Delayed Endolymphatic Hydrops 1
paths to the root