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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:otosclerosis 7
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Accession:DOID:0060925 term browser browse the term
Definition:An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. (DO)
Synonyms:exact_synonym: OTSC7
 primary_id: MESH:C566913
 alt_id: DOID:9003581;   OMIM:611572


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      auditory system disease 994
        inner ear disease 669
          otosclerosis 7
            otosclerosis 7 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                inner ear disease 669
                  otosclerosis 7
                    otosclerosis 7 0
paths to the root