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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;   GSDME-RELATED CONDITION;   autosomal dominant deafness 5
 primary_id: MESH:C563410
 alt_id: MIM: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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar Annotator: match by term: GSDME-related condition		 OMIM
CTD
ClinVar		 PMID:7427029 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17427029 More... NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      Hearing Disorders 848
        Hearing Loss 843
          sensorineural hearing loss 648
            autosomal dominant nonsyndromic deafness 84
              autosomal dominant nonsyndromic deafness 5 1
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    Deafness 386
                      nonsyndromic deafness 223
                        autosomal dominant nonsyndromic deafness 84
                          autosomal dominant nonsyndromic deafness 5 1
paths to the root