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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:cochlear disease
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Accession:DOID:5463 term browser browse the term
Definition:Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH).
Synonyms:exact_synonym: cochlear diseases
 primary_id: MESH:D015834;   RDO:0006926
For additional species annotation, visit the Alliance of Genome Resources.



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cochlear disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta treatment IEP RGD PMID:29304389 RGD:13792837 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 IEP RGD PMID:29304389 RGD:13792837 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
JBrowse link
G Pcdh15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10978835 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Slc17a8 solute carrier family 17 member 8 IEP RGD PMID:21215254 RGD:9999192 NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
JBrowse link
G Syp synaptophysin ISO RGD PMID:12429223 RGD:11554034 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:29304389 RGD:13792837 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Mondini Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a4 solute carrier family 26 member 4 ISO DNA:mutations:multiple (human) RGD PMID:11317356 RGD:7421508 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    sensory system disease 6388
      auditory system disease 1064
        inner ear disease 790
          cochlear disease 8
            Mondini Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          Otorhinolaryngologic Diseases 1649
            auditory system disease 1064
              inner ear disease 790
                cochlear disease 8
                  Mondini Dysplasia 1
paths to the root