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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 20
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Accession:DOID:0110550 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 ACTG1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: DFNA20;   DFNA26;   Deafness, autosomal dominant 20/26;   autosomal dominant deafness 20
 broad_synonym: ACTG1-RELATED CONDITION;   ACTG1-RELATED DISORDER
 primary_id: MESH:C565754
 alt_id: MIM:604717


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autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20		 OMIM
CTD
ClinVar		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		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 20 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 20 1
paths to the root