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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:Sensorineural Deafness with Hypertrophic Cardiomyopathy
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Accession:DOID:9008768 term browser browse the term
Synonyms:exact_synonym: Cardiomyopathy and Deafness
 primary_id: MESH:C565236
 alt_id: RDO:0013937
For additional species annotation, visit the Alliance of Genome Resources.


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Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      auditory system disease 851
        inner ear disease 638
          sensorineural hearing loss 598
            Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      cardiovascular system disease 4399
        vascular disease 3323
          artery disease 2376
            aortic disease 599
              aortic valve disease 292
                aortic valve stenosis 267
                  subvalvular aortic stenosis 214
                    hypertrophic cardiomyopathy 213
                      Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
paths to the root