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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 46 juvenile-onset
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Accession:DOID:0110243 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: CTRCT46;   cataract, Hutterite type;   juvenilae cataract Hutterite type;   juvenile cataract, Hutterite type;   juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy
 primary_id: MESH:C538286
 alt_id: OMIM:212500
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cataract 46 juvenile-onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd2 LEM domain nuclear envelope protein 2 JBrowse link 20 5,779,742 5,786,213 RGD:7240710
RGD:8554872

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  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          cataract 46 juvenile-onset 1
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
            lens disease 196
              cataract 189
                cataract 46 juvenile-onset 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.