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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 1B
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Accession:DOID:0110476 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: DFNB1B;   autosomal recessive deafness 1B
 primary_id: MESH:C567213
 alt_id: OMIM:612645

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autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chrNW_004936720:1,201,725...1,334,483
Ensembl chrNW_004936720:1,201,697...1,334,527 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:954,450...998,483
Ensembl chrNW_004936720:954,556...998,487 		JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:1,564,680...1,586,379
Ensembl chrNW_004936720:1,583,588...1,584,904 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chrNW_004936720:1,485,895...1,494,673
Ensembl chrNW_004936720:1,493,733...1,494,518 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:1,005,111...1,029,613
Ensembl chrNW_004936720:1,005,101...1,029,617 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:836,145...948,460
Ensembl chrNW_004936720:836,145...950,696 		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 1B 8
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 1B 8
paths to the root