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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 recessive nonsyndromic deafness 37
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Accession:DOID:0110495 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)
Synonyms:exact_synonym: DFNB37;   autosomal recessive deafness 37
 broad_synonym: MYO6-RELATED CONDITION
 primary_id: MESH:C564331
 alt_id: OMIM:607821

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autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    sensory system disease 6596
      Hearing Disorders 758
        Hearing Loss 752
          sensorineural hearing loss 571
            autosomal recessive nonsyndromic deafness 139
              autosomal recessive nonsyndromic deafness 37 1
Path 2
Term Annotations click to browse term
  disease 15274
    Pathological Conditions, Signs and Symptoms 11821
      Signs and Symptoms 9800
        Neurologic Manifestations 9482
          sensory system disease 6596
            Otorhinolaryngologic Diseases 1644
              auditory system disease 931
                Hearing Disorders 758
                  Hearing Loss 752
                    Deafness 364
                      nonsyndromic deafness 210
                        autosomal recessive nonsyndromic deafness 139
                          autosomal recessive nonsyndromic deafness 37 1
paths to the root