Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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 20988
    sensory system disease 7132
      Hearing Disorders 860
        Hearing Loss 856
          sensorineural hearing loss 671
            autosomal dominant nonsyndromic deafness 172
              autosomal dominant auditory neuropathy 1 1
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Neurologic Manifestations 10112
          sensory system disease 7132
            Otorhinolaryngologic Diseases 1855
              auditory system disease 1120
                Hearing Disorders 860
                  Hearing Loss 856
                    sensorineural hearing loss 671
                      cortical deafness 15
                        Auditory Neuropathy 11
                          autosomal dominant auditory neuropathy 1 1
paths to the root