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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 5
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Accession:DOID:0110215 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. (DO)
Synonyms:exact_synonym: LCA5;   Leber congenital amaurosis, type 5
 primary_id: MESH:C536602
 alt_id: OMIM:604537;   RDO:0002232
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Leber congenital amaurosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15503
    sensory system disease 4666
      eye disease 2226
        retinal disease 725
          Leber congenital amaurosis 65
            Leber congenital amaurosis 5 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            autosomal genetic disease 3787
              autosomal recessive disease 2159
                Leber congenital amaurosis 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.