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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
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Accession:DOID:0060457 term browser browse the term
Definition:A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer. (DO)
Synonyms:exact_synonym: PPCD;   Schlichting dystrophy;   hereditary polymorphus posterior corneal dystrophy
 xref: OMIM:PS122000;   ORDO:98973
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
posterior polymorphous corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 More... NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
posterior polymorphous corneal dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ovol2 ovo-like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1		 CTD
ClinVar
OMIM		 PMID:4900143 PMID:16303937 PMID:23049806 PMID:25741868 PMID:26749309 More... NCBI chr 3:131,677,388...131,707,844
Ensembl chr 3:131,677,391...131,708,359 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25182519 PMID:28492532 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
G Vsx1 visual system homeobox 1 ISO DNA:missense mutation:cds:p.H244R (human)
ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1		 ClinVar
RGD		 PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 More... RGD:8657036 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
posterior polymorphous corneal dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2 OMIM
ClinVar		 PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850 		JBrowse link
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 OMIM
ClinVar		 PMID:12654361 PMID:16252232 PMID:25741868 PMID:28492532 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
posterior polymorphous corneal dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29499165 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    sensory system disease 7131
      eye disease 3308
        corneal disease 213
          corneal dystrophy 51
            posterior polymorphous corneal dystrophy 6
              posterior polymorphous corneal dystrophy 1 4
              posterior polymorphous corneal dystrophy 2 1
              posterior polymorphous corneal dystrophy 3 1
              posterior polymorphous corneal dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 20983
    Pathological Conditions, Signs and Symptoms 13307
      Signs and Symptoms 10863
        Neurologic Manifestations 10111
          sensory system disease 7131
            eye disease 3308
              Hereditary Eye Diseases 1076
                corneal dystrophy 51
                  posterior polymorphous corneal dystrophy 6
                    posterior polymorphous corneal dystrophy 1 4
                    posterior polymorphous corneal dystrophy 2 1
                    posterior polymorphous corneal dystrophy 3 1
                    posterior polymorphous corneal dystrophy 4 1
paths to the root