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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:posterior polymorphous corneal dystrophy 3
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Accession:DOID:0110857 term browser browse the term
Definition:A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. (DO)
Synonyms:exact_synonym: PPCD3
 primary_id: MESH:C563788
 alt_id: OMIM:609141


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posterior polymorphous corneal dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12654361 PMID:16252232 PMID:23599324 PMID:25741868 PMID:28492532 More... NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            posterior polymorphous corneal dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              corneal disease 235
                corneal dystrophy 52
                  posterior polymorphous corneal dystrophy 6
                    posterior polymorphous corneal dystrophy 3 1
paths to the root