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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 89
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Accession:DOID:9003948 term browser browse the term
Definition:A nonsyndromic progressive age-related hearing loss, with onset at birth or in early childhood, caused by heterozygous mutation in the ATOH1 gene on chromosome 4q22.
Synonyms:exact_synonym: DFNA89;   Deafness, autosomal dominant 89
 primary_id: OMIM:620284


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Autosomal Dominant Nonsyndromic Deafness 89 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar
OMIM		 PMID:25741868 PMID:33111345 NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 626
            autosomal dominant nonsyndromic deafness 79
              Autosomal Dominant Nonsyndromic Deafness 89 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal dominant nonsyndromic deafness 79
                          Autosomal Dominant Nonsyndromic Deafness 89 1
paths to the root