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Term:cataract 44
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Accession:DOID:0110267 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: CTRCT44;   congenital cataract-44;   total early-onset cataract
 primary_id: OMIM:616509;   RDO:9001388
 xref: ORDO:98994
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cataract 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          cataract 44 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          eye and adnexa disease 1980
            eye disease 1980
              lens disease 191
                cataract 184
                  cataract 44 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.