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autosomal dominant nonsyndromic deafness 49 - Ontology Report - Rat Genome Database

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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 49
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Accession:DOID:0110572 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)
Synonyms:exact_synonym: DFNA49;   autosomal dominant deafness 49
 primary_id: MESH:C564250
 alt_id: MIM:608372;   RDO:0013276

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Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      Hearing Disorders 8892
        Hearing Loss 8838
          sensorineural hearing loss 6611
            autosomal dominant nonsyndromic deafness 915
              autosomal dominant nonsyndromic deafness 49 0
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            Otorhinolaryngologic Diseases 19638
              auditory system disease 11215
                Hearing Disorders 8892
                  Hearing Loss 8838
                    Deafness 4116
                      nonsyndromic deafness 2338
                        autosomal dominant nonsyndromic deafness 915
                          autosomal dominant nonsyndromic deafness 49 0
paths to the root