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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 dominant nonsyndromic deafness 25
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Accession:DOID:0110555 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. (DO)
Synonyms:exact_synonym: DFNA25;   autosomal dominant deafness 25
 primary_id: MESH:C565319
 alt_id: OMIM:605583


show annotations for term's descendants           Sort by:
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal dominant 25
CTD Direct Evidence: marker/mechanism
OMIM:605583		 OMIM
ClinVar
CTD
MouseDO		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISS OMIM:605583 MouseDO NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      Hearing Disorders 820
        Hearing Loss 815
          sensorineural hearing loss 625
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 25 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Hearing Disorders 820
                  Hearing Loss 815
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 25 2
paths to the root