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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



show annotations for term's descendants           Sort by:
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 growth factor receptor bound protein 2-associated protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 8:81,491,060...81,607,151
Ensembl chr 8:81,491,067...81,607,148
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    sensory system disease 6737
      Hearing Disorders 805
        Hearing Loss 800
          sensorineural hearing loss 611
            autosomal recessive nonsyndromic deafness 132
              autosomal recessive nonsyndromic deafness 26 1
Path 2
Term Annotations click to browse term
  disease 18296
    Pathological Conditions, Signs and Symptoms 12329
      Signs and Symptoms 10112
        Neurologic Manifestations 9768
          sensory system disease 6737
            Otorhinolaryngologic Diseases 1719
              auditory system disease 978
                Hearing Disorders 805
                  Hearing Loss 800
                    Deafness 372
                      nonsyndromic deafness 213
                        autosomal recessive nonsyndromic deafness 132
                          autosomal recessive nonsyndromic deafness 26 1
paths to the root