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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 86
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Accession:DOID:0110532 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: DFNB86;   autosomal recessive deafness 86
 primary_id: OMIM:614617

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autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 OMIM
ClinVar		 PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 More... NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      Hearing Disorders 734
        Hearing Loss 729
          sensorineural hearing loss 550
            autosomal recessive nonsyndromic deafness 135
              autosomal recessive nonsyndromic deafness 86 2
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            Otorhinolaryngologic Diseases 1591
              auditory system disease 899
                Hearing Disorders 734
                  Hearing Loss 729
                    Deafness 357
                      nonsyndromic deafness 207
                        autosomal recessive nonsyndromic deafness 135
                          autosomal recessive nonsyndromic deafness 86 2
paths to the root