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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 10 102,230,189 102,241,512 RGD:8554872
RGD:11554173
RGD:7240710
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 10 102,230,189 102,241,512 RGD:11535073
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16488
    Developmental Diseases 10322
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8464
        genetic disease 7863
          cataract 11 multiple types 1
            Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16488
    disease of anatomical entity 15463
      nervous system disease 11718
        sensory system disease 4919
          eye and adnexa disease 2429
            eye disease 2429
              lens disease 184
                cataract 175
                  cataract 11 multiple types 1
                    Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.