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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 51
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Accession:DOID:0110577 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. (DO)
Synonyms:exact_synonym: DFNA51;   autosomal dominant deafness 51;   chromosome 9q21.11 duplication syndrome
 primary_id: MIM:613558


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autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      chromosomal duplication syndrome 1286
        autosomal dominant nonsyndromic deafness 51 1
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Hearing Disorders 839
                  Hearing Loss 834
                    Deafness 383
                      nonsyndromic deafness 223
                        autosomal dominant nonsyndromic deafness 82
                          autosomal dominant nonsyndromic deafness 51 1
paths to the root