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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 5
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Accession:DOID:0110575 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: DFNA5;   autosomal dominant deafness 5
 primary_id: MESH:C563410
 alt_id: OMIM:600994

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autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 5 OMIM
ClinVar		 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chrNW_004936478:1,655,487...1,720,996 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      Hearing Disorders 734
        Hearing Loss 729
          sensorineural hearing loss 550
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 5 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            Otorhinolaryngologic Diseases 1591
              auditory system disease 899
                Hearing Disorders 734
                  Hearing Loss 729
                    Deafness 357
                      nonsyndromic deafness 207
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 5 1
paths to the root