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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


show annotations for term's descendants           Sort by:
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 PMID:28492532 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      auditory system disease 991
        inner ear disease 666
          sensorineural hearing loss 623
            Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            Otorhinolaryngologic Diseases 1734
              auditory system disease 991
                Hearing Disorders 818
                  Hearing Loss 813
                    sensorineural hearing loss 623
                      Sensorineural Deafness with Hypertrophic Cardiomyopathy 1
paths to the root