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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:Presbycusis
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Accession:DOID:9000307 term browser browse the term
Definition:Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies.
Synonyms:exact_synonym: ARHL;   Age-related hearing loss;   Presbyacusia;   Presbycuses;   Senile deafness;   age-related hearing impairment
 primary_id: MESH:D011304
 xref: EFO:0005782;   MONDO:0043765


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show annotations for term's descendants           Sort by:
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 severity ISO RGD PMID:19070604 RGD:8695953 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592
JBrowse link
G Cat catalase ISO RGD PMID:11678164 RGD:8655636 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Cdh23 cadherin related 23 no_association ISO DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781 RGD:8662287 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G Edn1 endothelin 1 susceptibility ISO DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO RGD PMID:24587312 RGD:10402574 NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO RGD PMID:22652460 RGD:8662870 NCBI chrNW_004955470:7,518,565...7,562,219
Ensembl chrNW_004955470:7,518,663...7,559,470
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:21664445 RGD:8694161 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
G Sirt3 sirtuin 3 ISO protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chrNW_004955476:11,794,951...11,826,244
Ensembl chrNW_004955476:11,794,951...11,826,237
JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO protein:altered expression:cochlear outer hair cell (rat) RGD PMID:19111601 RGD:9585690 NCBI chrNW_004955410:8,358,780...8,414,145
Ensembl chrNW_004955410:8,358,786...8,414,145
JBrowse link
G Sod1 superoxide dismutase 1 severity ISO mRNA:increased expression:cochlea (mouse) RGD PMID:10464373 PMID:11678164 RGD:8655636 RGD:8655665 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO DNA:mutation:cds:c.533C>T (p.S178L)(human) RGD PMID:24729539 RGD:11537394 NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
JBrowse link
G Tyr tyrosinase treatment
onset
ISO associated with Albinism; RGD PMID:19141317 PMID:19843244 RGD:8694324 RGD:8694327 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Diseases of the Aged 1159
      Presbycusis 15
        Presbycusis 1 0
        Presbycusis 2 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                Hearing Disorders 728
                  Hearing Loss 723
                    sensorineural hearing loss 543
                      Presbycusis 15
                        Presbycusis 1 0
                        Presbycusis 2 0
paths to the root