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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 1 265,886,766 265,899,947 RGD:7240710
RGD:8554872
RGD:11554173
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 1 265,886,766 265,899,947 RGD:8554872
RGD:11535073

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          cataract 11 multiple types 1
            Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        sensory system disease 4970
          eye disease 2388
            lens disease 196
              cataract 189
                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.