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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 107
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Accession:DOID:0080262 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: DFNB107;   autosomal recessive deafness 107
 primary_id: OMIM:617639

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autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 107 OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chrNW_004955506:6,398,411...6,406,970
Ensembl chrNW_004955506:6,397,541...6,409,290 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      Hearing Disorders 728
        Hearing Loss 723
          sensorineural hearing loss 543
            autosomal recessive nonsyndromic deafness 131
              autosomal recessive nonsyndromic deafness 107 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                Hearing Disorders 728
                  Hearing Loss 723
                    Deafness 350
                      nonsyndromic deafness 201
                        autosomal recessive nonsyndromic deafness 131
                          autosomal recessive nonsyndromic deafness 107 1
paths to the root