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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 1C
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Accession:DOID:0110830 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: USH1C;   Usher syndrome type I Acadian variety;   Usher syndrome type IC;   Usher syndrome, Acadian variety
 primary_id: MESH:C536486;   MESH:C564753
 alt_id: OMIM:276904


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17420
    syndrome 9902
      Usher syndrome 68
        Usher syndrome type 1 12
          Usher syndrome type 1C 1
Path 2
Term Annotations click to browse term
  disease 17420
    Pathological Conditions, Signs and Symptoms 11806
      Signs and Symptoms 9744
        Neurologic Manifestations 9424
          sensory system disease 6516
            Otorhinolaryngologic Diseases 1660
              auditory system disease 942
                Hearing Disorders 770
                  Hearing Loss 765
                    Deafness 369
                      Deaf-Blind Disorders 84
                        Usher syndrome 68
                          Usher syndrome type 1 12
                            Usher syndrome type 1C 1
paths to the root