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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 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          cataract 44 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              lens disease 194
                cataract 187
                  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.