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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 ISO 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 chr20:25,011,149...25,025,545
Ensembl chr20:25,361,216...25,372,705
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 OMIM NCBI chr20:17,983,277...18,019,441
Ensembl chr20:17,962,123...17,994,486
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 chr20:3,311,640...3,324,966
Ensembl chr20:3,074,804...3,086,157
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 Annotator: match by term: MAUMENEE CORNEAL DYSTROPHY
RGD
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 RGD:8657036 NCBI chr20:25,011,149...25,025,545
Ensembl chr20:25,361,216...25,372,705
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 OMIM NCBI chr 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541
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 OMIM NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550
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 OMIM NCBI chr 8:98,129,147...98,308,120
Ensembl chr 8:100,308,575...100,471,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    sensory system disease 4817
      eye disease 2478
        corneal disease 185
          corneal dystrophy 45
            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 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        sensory system disease 4817
          eye disease 2478
            Hereditary Eye Diseases 564
              corneal dystrophy 45
                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