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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 11
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Accession:DOID:0110216 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. (DO)
Synonyms:exact_synonym: LCA11
 primary_id: MESH:C564140
 alt_id: OMIM:613837;   RDO:0013196
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Leber congenital amaurosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impdh1 inosine monophosphate dehydrogenase 1 JBrowse link 4 56,478,383 56,493,987 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          retinal disease 715
            Leber congenital amaurosis 63
              Leber congenital amaurosis 11 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                Leber congenital amaurosis 63
                  Leber congenital amaurosis 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.