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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 auditory neuropathy 1
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Accession:DOID:0060690 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. (DO)
Synonyms:exact_synonym: AUNA1;   NSDAN;   auditory neuropathy, nonsyndromic dominant
 primary_id: MESH:C563790
 alt_id: OMIM:609129


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autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 OMIM
ClinVar		 PMID:20624953 PMID:25741868 PMID:27658576 PMID:28492532 NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    sensory system disease 6847
      Hearing Disorders 776
        Hearing Loss 773
          sensorineural hearing loss 588
            autosomal dominant nonsyndromic deafness 84
              autosomal dominant auditory neuropathy 1 1
Path 2
Term Annotations click to browse term
  disease 21086
    Pathological Conditions, Signs and Symptoms 13268
      Signs and Symptoms 10704
        Neurologic Manifestations 9942
          sensory system disease 6847
            Otorhinolaryngologic Diseases 1778
              auditory system disease 1040
                Hearing Disorders 776
                  Hearing Loss 773
                    sensorineural hearing loss 588
                      cortical deafness 15
                        Auditory Neuropathy 10
                          autosomal dominant auditory neuropathy 1 1
paths to the root