Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
Accession:DOID:0060457 term browser browse the term
Definition:A corneal dystrophy that is characterized 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


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 3:131,677,391...131,707,123
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: Corneal endothelial dystrophy 1, autosomal dominant | ClinVar Annotator: match by term: Maumenee corneal dystrophy ClinVar PMID:17220209 PMID:17679935 PMID:19369245 PMID:25182519 PMID:25500497 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2		 OMIM
CTD
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
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
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 21128
    sensory system disease 6940
      eye disease 3477
        corneal disease 233
          corneal dystrophy 52
            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 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Hereditary Eye Diseases 1097
                corneal dystrophy 52
                  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