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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 15
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Accession:DOID:0110470 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: DFMB15;   DFNB15;   DFNB72;   DFNB95;   autosomal recessive deafness 15;   autosomal recessive deafness 72;   autosomal recessive deafness 95
 primary_id: MESH:C566611
 alt_id: OMIM:601869

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autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103233686 PDZ domain-containing protein GIPC3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 OMIM
ClinVar		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176 		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 15 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 15 1
paths to the root