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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 chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Deafness, with Smith-Magenis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Chromosome Aberrations 1721
          Aneuploidy 1005
            Monosomy 910
              Chromosome Deletion 910
                chromosomal deletion syndrome 868
                  Smith-Magenis syndrome 34
                    Deafness, with Smith-Magenis Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.