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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 104
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Accession:DOID:0110465 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. (DO)
Synonyms:exact_synonym: DFNB104;   autosomal recessive deafness 104
 broad_synonym: RIPOR2-RELATED CONDITION
 primary_id: OMIM:616515
 xref: MONDO:0014675

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autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Ripor2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition OMIM
ClinVar		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936671:1,064,937...1,232,985
Ensembl chrNW_004936671:1,051,742...1,093,021 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      Hearing Disorders 732
        Hearing Loss 727
          sensorineural hearing loss 548
            autosomal recessive nonsyndromic deafness 135
              autosomal recessive nonsyndromic deafness 104 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 6279
            Otorhinolaryngologic Diseases 1589
              auditory system disease 897
                Hearing Disorders 732
                  Hearing Loss 727
                    Deafness 355
                      nonsyndromic deafness 207
                        autosomal recessive nonsyndromic deafness 135
                          autosomal recessive nonsyndromic deafness 104 2
paths to the root