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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: CATARACT, JUVENILE, HUTTERITE TYPE;   CTRCT46;   juvenilae cataract Hutterite type
 primary_id: OMIM:212500
 alt_id: RDO:0008243
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 46 juvenile-onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd2 LEM domain containing 2 JBrowse link 20 5,779,742 5,786,213 RGD:11554173
RGD:7240710

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          cataract 46 juvenile-onset 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              lens disease 189
                cataract 182
                  cataract 46 juvenile-onset 1
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