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ONTOLOGY REPORT - ANNOTATIONS


Term:posterior polymorphous corneal dystrophy 2
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Accession:DOID:0110856 term browser browse the term
Definition:A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. (DO)
Synonyms:exact_synonym: PPCD2
 primary_id: MESH:C565176
 alt_id: OMIM:609140;   RDO:0013897
For additional species annotation, visit the Alliance of Genome Resources.


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posterior polymorphous corneal dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col8a2 collagen type VIII alpha 2 chain JBrowse link 5 144,308,527 144,335,142 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          Hereditary Eye Diseases 505
            corneal dystrophy 40
              posterior polymorphous corneal dystrophy 5
                posterior polymorphous corneal dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              Hereditary Eye Diseases 505
                corneal dystrophy 40
                  corneal endothelial dystrophy 12
                    posterior polymorphous corneal dystrophy 5
                      posterior polymorphous corneal dystrophy 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.