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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 119
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Accession:DOID:9005720 term browser browse the term
Definition:Characterized by nonsyndromic mild to profound sensorineural hearing loss. Caused by compound heterozygous mutation in the SPATA5L1 gene on chromosome 15q21.
Synonyms:exact_synonym: DFNB119;   autosomal recessive deafness 119
 broad_synonym: SPATA5L1-ASSOCIATED DISORDER
 primary_id: OMIM:619615

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Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34626583 NCBI chrNW_004955409:8,031,094...8,049,477 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      Hearing Disorders 726
        Hearing Loss 721
          sensorineural hearing loss 541
            autosomal recessive nonsyndromic deafness 131
              Autosomal Recessive Nonsyndromic Deafness 119 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            Otorhinolaryngologic Diseases 1561
              auditory system disease 890
                Hearing Disorders 726
                  Hearing Loss 721
                    Deafness 348
                      nonsyndromic deafness 201
                        autosomal recessive nonsyndromic deafness 131
                          Autosomal Recessive Nonsyndromic Deafness 119 1
paths to the root