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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


show annotations for term's descendants           Sort by:
Sudden Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx3 glutathione peroxidase 3 ISO DNA:SNP: :rs3805435 (human) RGD PMID:28738977 RGD:401827121 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha treatment ISO DNA:polymorphism: : HLA-DQA1*01 RGD PMID:11493203 RGD:8547564 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta 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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hspa1a heat shock protein 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:22922572 RGD:8662465 NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132 		JBrowse link
G Hspa1b heat shock protein 1B ISO DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214 		JBrowse link
G Hspa1l heat shock protein 1-like ISO DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:21108784 RGD:8548824 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Lta lymphotoxin A ISO DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association
susceptibility		 ISO DNA:SNP: :677C>T(human)
DNA:SNP:cds:677C>T(human)
DNA:SNPs:cds:677C>T,1298A>C(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16275406 PMID:20798492 PMID:16572609 PMID:15775757 RGD:7387236, RGD:7387240, RGD:7387243 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:22672326 RGD:8547731 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      auditory system disease 988
        inner ear disease 662
          sensorineural hearing loss 619
            Sudden Hearing Loss 18
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Hearing Loss 810
                    sensorineural hearing loss 619
                      Sudden Hearing Loss 18
paths to the root