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
Accession: DOID:9000307
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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Aqp4
aquaporin 4
severity
ISO
RGD
PMID:19070604
RGD:8695953
NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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