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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: OMIM:604717


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 20
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G LOC130061940 ATAC-STARR-seq lymphoblastoid active region 12964 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 20 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29357087 More... NCBI chr17:81,512,245...81,512,334 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      Hearing Disorders 1140
        Hearing Loss 1134
          sensorineural hearing loss 904
            autosomal dominant nonsyndromic deafness 138
              autosomal dominant nonsyndromic deafness 20 2
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Deafness 651
                      nonsyndromic deafness 321
                        autosomal dominant nonsyndromic deafness 138
                          autosomal dominant nonsyndromic deafness 20 2
paths to the root