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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 8
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Accession:DOID:0110079 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)
Synonyms:exact_synonym: LCA8
 primary_id: OMIM:613835
 alt_id: RDO:9000513
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Leber congenital amaurosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      eye and adnexa disease 2253
        eye disease 2253
          retinal disease 716
            Leber congenital amaurosis 63
              Leber congenital amaurosis 8 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                Leber congenital amaurosis 63
                  Leber congenital amaurosis 8 1
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