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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 GIPC3 GIPC PDZ domain containing family member 3 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 15
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15		 ClinVar
OMIM
CTD		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      Hearing Disorders 1138
        Hearing Loss 1132
          sensorineural hearing loss 902
            autosomal recessive nonsyndromic deafness 211
              autosomal recessive nonsyndromic deafness 15 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 9728
            Otorhinolaryngologic Diseases 2279
              auditory system disease 1338
                Hearing Disorders 1138
                  Hearing Loss 1132
                    Deafness 649
                      nonsyndromic deafness 321
                        autosomal recessive nonsyndromic deafness 211
                          autosomal recessive nonsyndromic deafness 15 1
paths to the root