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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 26
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Accession:DOID:0110484 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31. (DO)
Synonyms:exact_synonym: DFNB26;   autosomal recessive deafness 26
 primary_id: MESH:C565329;   RDO:0013999
 alt_id: OMIM:605428

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autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 7:90,197,374...90,323,024
Ensembl chr 7:90,197,620...90,322,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    sensory system disease 6596
      Hearing Disorders 758
        Hearing Loss 752
          sensorineural hearing loss 571
            autosomal recessive nonsyndromic deafness 139
              autosomal recessive nonsyndromic deafness 26 1
Path 2
Term Annotations click to browse term
  disease 15274
    Pathological Conditions, Signs and Symptoms 11821
      Signs and Symptoms 9800
        Neurologic Manifestations 9482
          sensory system disease 6596
            Otorhinolaryngologic Diseases 1644
              auditory system disease 931
                Hearing Disorders 758
                  Hearing Loss 752
                    Deafness 364
                      nonsyndromic deafness 210
                        autosomal recessive nonsyndromic deafness 139
                          autosomal recessive nonsyndromic deafness 26 1
paths to the root