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ONTOLOGY REPORT - ANNOTATIONS


Term:posterior polymorphous corneal dystrophy 1
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Accession:DOID:0110855 term browser browse the term
Definition:A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. (DO)
Synonyms:exact_synonym: CHED1;   Maumenee corneal dystrophy;   PPCD;   PPCD1;   corneal endothelial dystrophy 1;   corneal endothelial dystrophy 1, autosomal dominant;   hereditary polymorphous posterior corneal dystrophy;   posterior polymorphous corneal dystrophy
 primary_id: MESH:C562745;   MESH:C565156
 alt_id: OMIM:122000;   RDO:0007934;   RDO:0012330;   RDO:0013879
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posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo-like zinc finger 2 JBrowse link 3 138,433,990 138,464,511 RGD:8554872
RGD:11554173
RGD:7240710
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8657036
RGD:8554872
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          Hereditary Eye Diseases 507
            corneal dystrophy 40
              posterior polymorphous corneal dystrophy 5
                posterior polymorphous corneal dystrophy 1 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Hereditary Eye Diseases 507
                corneal dystrophy 40
                  corneal endothelial dystrophy 12
                    posterior polymorphous corneal dystrophy 5
                      posterior polymorphous corneal dystrophy 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.