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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 10
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Accession:DOID:0110291 term browser browse the term
Definition:A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: LCA10
 primary_id: MESH:C565720
 alt_id: OMIM:611755;   RDO:0014280
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Leber congenital amaurosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11064164
RGD:11537378
RGD:11537381

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Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            Leber congenital amaurosis 10 1
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Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              retinal disease 715
                Leber congenital amaurosis 63
                  Leber congenital amaurosis 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.