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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_004955415:14,123,021...14,133,437
Ensembl chrNW_004955415:14,120,301...14,131,989
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_004955402:39,735,596...40,066,151
Ensembl chrNW_004955402:39,735,600...40,066,151
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_004955415:14,123,021...14,133,437
Ensembl chrNW_004955415:14,120,301...14,131,989
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_004955429:23,011,627...23,198,188
Ensembl chrNW_004955429:23,010,790...23,198,250
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_004955416:17,885,757...18,686,124
Ensembl chrNW_004955416:18,130,605...18,686,108
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_004955452:14,127,654...14,149,582
Ensembl chrNW_004955452:14,127,630...14,155,212
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_004955431:23,640,775...23,651,738
Ensembl chrNW_004955431:23,638,765...23,652,191
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_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
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_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
JBrowse link
G Clu clusterin ISO RGD PMID:18378577 PMID:22956607 RGD:8661808 RGD:8696020 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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_004955452:14,127,654...14,149,582
Ensembl chrNW_004955452:14,127,630...14,155,212
JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chrNW_004955402:31,985,616...32,144,040
Ensembl chrNW_004955402:31,985,583...32,144,040
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13526
    sensory system disease 5642
      eye disease 2642
        corneal disease 184
          corneal dystrophy 47
            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 13526
    disease of anatomical entity 13249
      nervous system disease 11298
        sensory system disease 5642
          eye disease 2642
            Hereditary Eye Diseases 700
              corneal dystrophy 47
                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