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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 4:86,188,534...86,191,301
Ensembl chr 4:96,863,762...96,864,832 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15684
    sensory system disease 6644
      Hearing Disorders 766
        Hearing Loss 760
          sensorineural hearing loss 575
            autosomal dominant nonsyndromic deafness 77
              Autosomal Dominant Nonsyndromic Deafness 89 1
Path 2
Term Annotations click to browse term
  disease 15684
    Pathological Conditions, Signs and Symptoms 12044
      Signs and Symptoms 9975
        Neurologic Manifestations 9654
          sensory system disease 6644
            Otorhinolaryngologic Diseases 1676
              auditory system disease 940
                Hearing Disorders 766
                  Hearing Loss 760
                    Deafness 366
                      nonsyndromic deafness 209
                        autosomal dominant nonsyndromic deafness 77
                          Autosomal Dominant Nonsyndromic Deafness 89 1
paths to the root