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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 39
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Accession:DOID:0110497 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: DFNB39;   autosomal recessive deafness 39
 primary_id: MESH:C564265
 alt_id: OMIM:608265
 xref: NCI:C129874


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autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 39 OMIM
ClinVar		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      Hearing Disorders 766
        Hearing Loss 760
          sensorineural hearing loss 575
            autosomal recessive nonsyndromic deafness 139
              autosomal recessive nonsyndromic deafness 39 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            Otorhinolaryngologic Diseases 1673
              auditory system disease 940
                Hearing Disorders 766
                  Hearing Loss 760
                    Deafness 367
                      nonsyndromic deafness 210
                        autosomal recessive nonsyndromic deafness 139
                          autosomal recessive nonsyndromic deafness 39 1
paths to the root