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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 74
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Accession:DOID:0112165 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. (DO)
Synonyms:exact_synonym: DFNA74;   autosomal dominant deafness 74
 primary_id: OMIM:618140


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autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 74 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    sensory system disease 7035
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 627
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 74 1
Path 2
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sensory system disease 7035
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 376
                      nonsyndromic deafness 217
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 74 1
paths to the root