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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 3A
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Accession:DOID:0110564 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: DFNA3A;   autosomal dominant deafness 3A
 primary_id: MESH:C567277
 alt_id: OMIM:601544

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autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099 		JBrowse link
G Gjb4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chrNW_004955452:12,871,548...12,874,019
Ensembl chrNW_004955452:12,871,548...12,874,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6168
      Hearing Disorders 728
        Hearing Loss 723
          sensorineural hearing loss 543
            autosomal dominant nonsyndromic deafness 76
              autosomal dominant nonsyndromic deafness 3A 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11057
      Signs and Symptoms 9147
        Neurologic Manifestations 8846
          sensory system disease 6168
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                Hearing Disorders 728
                  Hearing Loss 723
                    Deafness 350
                      nonsyndromic deafness 201
                        autosomal dominant nonsyndromic deafness 76
                          autosomal dominant nonsyndromic deafness 3A 2
paths to the root