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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:Sudden Hearing Loss
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Accession:DOID:9003817 term browser browse the term
Definition:Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.
Synonyms:exact_synonym: SSHL;   SSNHL;   Sudden Deafness;   sudden sensorineural hearing loss
 related_synonym: idiopathic sudden sensorineural hearing loss
 primary_id: MESH:D003639
 alt_id: RDO:0005310
For additional species annotation, visit the Alliance of Genome Resources.


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Sudden Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:4,879,998...4,965,191
Ensembl chr20:4,959,294...4,964,963
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:21108784 RGD:8548824 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il4r interleukin 4 receptor ISO DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 susceptibility ISO protein:increased expression:serum:
DNA:polymorphism:cds:p.C572G(human)
RGD PMID:11189185, PMID:22385075 RGD:7394753, RGD:8547982 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:677C>T,1298A>C(human)
DNA:SNP:cds:677C>T(human)
CTD PMID:16275406, PMID:20798492, PMID:15775757, PMID:16572609 RGD:7387236, RGD:7387243, RGD:7387240 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO DNA:polymorphism: : HLA-DQA1*01 RGD PMID:11493203 RGD:8547564 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human)
DNA:polymorphism: :HLA-DRB1*0403(human)
RGD PMID:11099146, PMID:16303674 RGD:7365092, RGD:7365115 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:22672326 RGD:8547731 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      auditory system disease 751
        inner ear disease 538
          sensorineural hearing loss 498
            Sudden Hearing Loss 16
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  sensorineural hearing loss 498
                    Sudden Hearing Loss 16
paths to the root