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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 12
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Accession:DOID:0110080 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: LCA12;   Rod-cone dysplasia 2
 primary_id: MESH:C565697
 alt_id: OMIA:001260;   OMIM:610612;   RDO:0014261
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Leber congenital amaurosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rd3 retinal degeneration 3, GUCY2D regulator JBrowse link 13 110,739,645 110,749,167 RGD:7240710
RGD:8554872
RGD:11560490

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    sensory system disease 4685
      eye and adnexa disease 2253
        eye disease 2253
          retinal disease 716
            Leber congenital amaurosis 63
              Leber congenital amaurosis 12 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                Leber congenital amaurosis 63
                  Leber congenital amaurosis 12 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.