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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 11 multiple types
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Accession:DOID:0110249 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: CATARACT 11, POSTERIOR POLAR;   CTRCT11
 narrow_synonym: CPP4;   CPP4 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES;   CTPP4;   Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities;   posterior polar cataract 4
 primary_id: MESH:C535344
 alt_id: OMIM:610623;   RDO:0000410
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cataract 11 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired like homeodomain 3 JBrowse link NW_004936600 3,607,883 3,619,538 RGD:7240710
RGD:9068941
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired like homeodomain 3 JBrowse link NW_004936600 3,607,883 3,619,538 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11416
    Developmental Diseases 7967
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6888
        genetic disease 6419
          cataract 11 multiple types 1
            Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 11416
    disease of anatomical entity 11039
      nervous system disease 8852
        sensory system disease 4117
          eye and adnexa disease 1968
            eye disease 1968
              lens disease 159
                cataract 152
                  cataract 11 multiple types 1
                    Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.