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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:Deafness, with Smith-Magenis Syndrome
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Accession:DOID:9007233 term browser browse the term
Synonyms:primary_id: RDO:9000633


show annotations for term's descendants           Sort by:
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Deafness, with Smith-Magenis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Deafness 651
                      Deafness, with Smith-Magenis Syndrome 1
paths to the root