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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
For additional species annotation, visit the Alliance of Genome Resources.



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Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      Deafness, with Smith-Magenis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17256
    Pathological Conditions, Signs and Symptoms 10273
      Pathologic Processes 6712
        Chromosome Aberrations 1869
          Aneuploidy 1148
            Monosomy 1047
              Chromosome Deletion 1047
                chromosomal deletion syndrome 1005
                  Smith-Magenis syndrome 14
                    Deafness, with Smith-Magenis Syndrome 1
paths to the root