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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.


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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 IAGP ClinVar Annotator: match by term: Posterior Polymorphous Corneal Dystrophy
ClinVar Annotator: match by term: Polymorphous posterior corneal dystrophy
ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 PMID:18626569 PMID:19763142 PMID:21976959 PMID:22171159 PMID:23592923 PMID:24033266 PMID:25741868 PMID:26879370 PMID:28492532 NCBI chr20:25,069,940...25,082,141
Ensembl chr20:25,070,885...25,082,141
Ensembl chr20:25,070,885...25,082,141
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 IAGP
EXP
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:4900143 PMID:16303937 PMID:23049806 PMID:26749309 NCBI chr20:18,024,152...18,059,188
Ensembl chr20:17,956,979...18,059,188
JBrowse link
G SLC4A11 solute carrier family 4 member 11 IAGP ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 ClinVar PMID:25182519 PMID:28492532 NCBI chr20:3,227,417...3,241,484
Ensembl chr20:3,227,417...3,239,559
JBrowse link
G VSX1 visual system homeobox 1 IAGP DNA:missense mutation:cds:p.H244R (human)
ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR
ClinVar Annotator: match by term: MAUMENEE CORNEAL DYSTROPHY
ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1
ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 PMID:18626569 PMID:19763142 PMID:21976959 PMID:22171159 PMID:23592923 PMID:24033266 PMID:25741868 PMID:26879370 PMID:28492532, PMID:16384943 RGD:8657036 NCBI chr20:25,069,940...25,082,141
Ensembl chr20:25,070,885...25,082,141
Ensembl chr20:25,070,885...25,082,141
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 IAGP ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 2 ClinVar
OMIM
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 PMID:23422828 NCBI chr 1:36,095,239...36,126,207
Ensembl chr 1:36,095,239...36,125,222
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 IAGP ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3 ClinVar
OMIM
PMID:12654361 PMID:16252232 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814
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 IAGP ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 ClinVar
OMIM
PMID:29499165 NCBI chr 8:101,492,439...101,678,104
Ensembl chr 8:101,492,439...101,669,726
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    sensory system disease 5745
      eye disease 2975
        corneal disease 210
          corneal dystrophy 56
            posterior polymorphous corneal dystrophy 6
              posterior polymorphous corneal dystrophy 1 3
              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 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        sensory system disease 5745
          eye disease 2975
            Hereditary Eye Diseases 712
              corneal dystrophy 56
                posterior polymorphous corneal dystrophy 6
                  posterior polymorphous corneal dystrophy 1 3
                  posterior polymorphous corneal dystrophy 2 1
                  posterior polymorphous corneal dystrophy 3 1
                  posterior polymorphous corneal dystrophy 4 1
paths to the root