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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 67
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Accession:DOID:0110588 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: DFNA67;   autosomal dominant deafness 67
 primary_id: OMIM:616340;   RDO:9001423

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autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osbpl2 oxysterol binding protein like 2 ISO OMIM:616340 MouseDO NCBI chrNW_004936514:9,882,066...9,916,378
Ensembl chrNW_004936514:9,891,258...9,915,416 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      Hearing Disorders 734
        Hearing Loss 729
          sensorineural hearing loss 550
            autosomal dominant nonsyndromic deafness 79
              autosomal dominant nonsyndromic deafness 67 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            Otorhinolaryngologic Diseases 1591
              auditory system disease 899
                Hearing Disorders 734
                  Hearing Loss 729
                    Deafness 357
                      nonsyndromic deafness 207
                        autosomal dominant nonsyndromic deafness 79
                          autosomal dominant nonsyndromic deafness 67 1
paths to the root