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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:Usher syndrome type 1E
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Accession:DOID:0110833 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. (DO)
Synonyms:exact_synonym: USH1E;   USHER SYNDROME, TYPE IE
 primary_id: MESH:C536488;   MESH:C566577;   RDO:0002090
 alt_id: OMIM:602097;   RDO:0011989


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Usher syndrome 68
        Usher syndrome type 1 12
          Usher syndrome type 1E 0
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 375
                      Deaf-Blind Disorders 84
                        Usher syndrome 68
                          Usher syndrome type 1 12
                            Usher syndrome type 1E 0
paths to the root