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ONTOLOGY REPORT - ANNOTATIONS


Term:Leber congenital amaurosis 7
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Accession:DOID:0110333 term browser browse the term
Definition:A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: LCA7
 primary_id: OMIM:613829
 alt_id: RDO:9000512
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Leber congenital amaurosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:734827
RGD:8554872
RGD:7240710
G Sult2a1 sulfotransferase family 2A member 1 JBrowse link 1 76,558,721 76,614,315 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            Leber congenital amaurosis 7 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          eye disease 2391
            retinal disease 755
              Leber congenital amaurosis 70
                Leber congenital amaurosis 7 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.