Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 11 multiple types
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
cataract 11 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired-like homeodomain transcription factor 3 JBrowse link 19 46,135,281 46,148,325 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 transcription factor 3 JBrowse link 19 46,135,281 46,148,325 RGD:8554872
RGD:11535073

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    Developmental Diseases 8630
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7404
        genetic disease 6911
          cataract 11 multiple types 1
            Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12180
      nervous system disease 9644
        sensory system disease 4407
          eye and adnexa disease 2110
            eye disease 2110
              lens disease 176
                cataract 169
                  cataract 11 multiple types 1
                    Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
paths to the root

NHLBI Logo

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