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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 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 IEP RGD PMID:29304389 RGD:13792837 NCBI chr 4:5,889,999...5,894,575
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 6:30,941,693...30,956,389
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:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:29304389 RGD:13792837 NCBI chr20:3,626,685...3,629,303
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 6:53,835,102...53,873,968
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 19143
    sensory system disease 7373
      auditory system disease 1063
        inner ear disease 735
          cochlear disease 8
            Mondini Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1063
                inner ear disease 735
                  cochlear disease 8
                    Mondini Dysplasia 1
paths to the root