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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:autosomal dominant nonsyndromic deafness 23
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Accession:DOID:0110553 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. (DO)
Synonyms:exact_synonym: DFNA23;   autosomal dominant deafness 23;   deafness, autosomal dominant nonsyndromic sensorineural 23
 primary_id: MESH:C538198
 alt_id: MESH:C565357;   OMIM:605192

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autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23 OMIM
ClinVar		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chrNW_004936495:4,839,496...4,842,906
Ensembl chrNW_004936495:4,838,051...4,842,994 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      Hearing Disorders 732
        Hearing Loss 727
          sensorineural hearing loss 548
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 23 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            Otorhinolaryngologic Diseases 1589
              auditory system disease 897
                Hearing Disorders 732
                  Hearing Loss 727
                    Deafness 355
                      nonsyndromic deafness 207
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 23 1
paths to the root