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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:High-Frequency Hearing Loss
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Accession:DOID:9008455 term browser browse the term
Definition:Hearing loss in frequencies above 1000 hertz.
Synonyms:exact_synonym: high frequency deafness
 primary_id: MESH:D006316
 xref: NCI:C34663


show annotations for term's descendants           Sort by:
High-Frequency Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnf tumor necrosis factor ISO RGD PMID:23996384 RGD:7394699 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647 		JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      Hearing Disorders 848
        Hearing Loss 843
          High-Frequency Hearing Loss 3
            AURONEURODENTAL SYNDROME 2
            High-Frequency Deafness, Sensorineural, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    sensorineural hearing loss 648
                      High-Frequency Hearing Loss 3
                        AURONEURODENTAL SYNDROME 2
                        High-Frequency Deafness, Sensorineural, X-Linked 0
paths to the root