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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 15
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Accession:DOID:0110546 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: DFNA15;   autosomal dominant deafness 15
 primary_id: MESH:C566545;   RDO:0014873
 alt_id: OMIM:602459
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15 OMIM
ClinVar
PMID:9506947 PMID:14585957 PMID:18228599 PMID:20434433 PMID:24033266 More... NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
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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 nonsyndromic deafness 15 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
                    Deafness 425
                      nonsyndromic deafness 290
                        autosomal dominant nonsyndromic deafness 172
                          autosomal dominant nonsyndromic deafness 15 1
paths to the root