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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: OMIM:613558
For additional species annotation, visit the Alliance of Genome Resources.


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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: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      chromosomal duplication syndrome 750
        autosomal dominant nonsyndromic deafness 51 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          Otorhinolaryngologic Diseases 1270
            auditory system disease 850
              Hearing Disorders 710
                Hearing Loss 706
                  Deafness 384
                    nonsyndromic deafness 278
                      autosomal dominant nonsyndromic deafness 160
                        autosomal dominant nonsyndromic deafness 51 1
paths to the root