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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 24
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Accession:DOID:0110482 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. (DO)
Synonyms:exact_synonym: DFNB24;   autosomal recessive deafness 24
 primary_id: MESH:C567027
 alt_id: OMIM:611022



show annotations for term's descendants           Sort by:
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal recessive 24
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:25741916 More... NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      Hearing Disorders 1140
        Hearing Loss 1134
          sensorineural hearing loss 904
            autosomal recessive nonsyndromic deafness 211
              autosomal recessive nonsyndromic deafness 24 1
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Deafness 651
                      nonsyndromic deafness 321
                        autosomal recessive nonsyndromic deafness 211
                          autosomal recessive nonsyndromic deafness 24 1
paths to the root