ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 18
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Accession:DOID:0110238 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. (DO)
Synonyms:exact_synonym: CATC2;   CTRCT18;   autosomal recessive congenital cataract 2;   cataract 18 autosomal recessive
 primary_id: MESH:C535337;   RDO:0000402
 alt_id: OMIM:610019
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cataract 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fyco1 FYVE and coiled-coil domain containing 1 JBrowse link 8 132,844,042 132,910,905 RGD:7240710
RGD:8554872

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          cataract 18 1
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  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          eye and adnexa disease 1996
            eye disease 1996
              lens disease 191
                cataract 184
                  cataract 18 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.