ONTOLOGY REPORT - ANNOTATIONS


Term:Usher syndrome type 1J
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Accession:DOID:0110836 term browser browse the term
Definition:An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. (DO)
Synonyms:exact_synonym: USH1J;   Usher syndrome 1J;   Usher syndrome type IJ
 primary_id: OMIM:614869
 alt_id: RDO:0012127
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Usher syndrome type 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    syndrome 4713
      Usher syndrome 46
        Usher syndrome type 1 13
          Usher syndrome type 1J 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        sensory system disease 4264
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  Deafness 261
                    Deaf-Blind Disorders 54
                      Usher syndrome 46
                        Usher syndrome type 1 13
                          Usher syndrome type 1J 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.