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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:corneal endothelial dystrophy
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Accession:DOID:0060443 term browser browse the term
Definition:A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)
Synonyms:exact_synonym: dystrophy of corneal endothelium;   endothelial dystrophy
For additional species annotation, visit the Alliance of Genome Resources.


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congenital hereditary endothelial dystrophy of cornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea OMIM
ClinVar
PMID:9536098 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 More... NCBI chrNW_004936485:15,486,565...15,497,638
Ensembl chrNW_004936485:15,486,372...15,497,673
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 | ClinVar Annotator: match by term: FCD2 LOCUS OMIM
ClinVar
PMID:18414213 PMID:18728071 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936497:8,410,882...8,765,678
Ensembl chrNW_004936497:8,410,860...8,764,296
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4 OMIM
ClinVar
PMID:16767101 PMID:18024964 PMID:22072594 PMID:25741868 PMID:29327391 NCBI chrNW_004936485:15,486,565...15,497,638
Ensembl chrNW_004936485:15,486,372...15,497,673
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 6 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: Corneal dystrophy, Fuchs endothelial, 6 OMIM
ClinVar
PMID:20036349 PMID:25741868 PMID:26622166 PMID:28492532 PMID:33116287 NCBI chrNW_004936574:17,643...175,762
Ensembl chrNW_004936574:17,684...178,293
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8 OMIM
ClinVar
PMID:24094747 PMID:25741868 NCBI chrNW_004936483:12,358,731...13,056,267
Ensembl chrNW_004936483:12,358,754...12,586,674
JBrowse link
Corneal Dystrophy, Fuchs' Endothelial, 1 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: Corneal dystrophy, Fuchs endothelial, 1 OMIM
ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chrNW_004936474:18,587,451...18,602,446
Ensembl chrNW_004936474:18,589,363...18,602,583
JBrowse link
CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdx3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Corneal dystrophy, punctiform and polychromatic pre-Descemet ClinVar
OMIM
PMID:31782998 PMID:34369396 NCBI chrNW_004936486:8,597,479...8,606,727
Ensembl chrNW_004936486:8,597,388...8,606,780
JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:
RGD PMID:22956607 RGD:8661808 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
JBrowse link
G Clu clusterin ISO RGD PMID:18378577 PMID:22956607 RGD:8661808 RGD:8696020 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836
JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISO OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chrNW_004936474:18,587,451...18,602,446
Ensembl chrNW_004936474:18,589,363...18,602,583
JBrowse link
G LOC101976443 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chrNW_004936517:271,909...409,818
Ensembl chrNW_004936517:271,909...409,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13815
    sensory system disease 5754
      eye disease 2696
        corneal disease 186
          corneal dystrophy 49
            corneal endothelial dystrophy 10
              CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET 1
              Fuchs' endothelial dystrophy + 9
              Iridocorneal Endothelial Syndrome + 0
              X-linked endothelial corneal dystrophy 0
              congenital hereditary endothelial dystrophy of cornea 1
Path 2
Term Annotations click to browse term
  disease 13815
    disease of anatomical entity 13535
      nervous system disease 11528
        sensory system disease 5754
          eye disease 2696
            Hereditary Eye Diseases 708
              corneal dystrophy 49
                corneal endothelial dystrophy 10
                  CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET 1
                  Fuchs' endothelial dystrophy + 9
                  Iridocorneal Endothelial Syndrome + 0
                  X-linked endothelial corneal dystrophy 0
                  congenital hereditary endothelial dystrophy of cornea 1
paths to the root