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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 103
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Accession:DOID:0110464 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: DFNB103;   autosomal recessive deafness 103
 primary_id: MIM:616042;   RDO:9001427


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autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr 9:16,710,980...16,813,502
Ensembl chr 9:16,710,980...16,813,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    sensory system disease 7253
      Hearing Disorders 839
        Hearing Loss 834
          sensorineural hearing loss 644
            autosomal recessive nonsyndromic deafness 149
              autosomal recessive nonsyndromic deafness 103 1
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Hearing Disorders 839
                  Hearing Loss 834
                    Deafness 383
                      nonsyndromic deafness 223
                        autosomal recessive nonsyndromic deafness 149
                          autosomal recessive nonsyndromic deafness 103 1
paths to the root