Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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, sodium bicarbonate transporter-like, member 11 ISO
IAGP
ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea
OMIM:217700
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 More... NCBI chr 2:130,526,027...130,539,439
Ensembl chr 2:130,526,033...130,539,439
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 chr18:69,476,500...69,821,038
Ensembl chr18:69,476,427...69,822,150
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, sodium bicarbonate transporter-like, 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 chr 2:130,526,027...130,539,439
Ensembl chr 2:130,526,033...130,539,439
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 chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467
JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 ATP/GTP binding protein-like 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8 OMIM
ClinVar
PMID:24094747 PMID:25741868 NCBI chr 7:75,879,311...76,774,446
Ensembl chr 7:75,879,635...76,774,446
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 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 chr 4:126,180,587...126,208,123
Ensembl chr 4:126,180,586...126,208,123
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 chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994
JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO
IEP
protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:
RGD PMID:22956607 PMID:22956607 RGD:8661808, RGD:8661808 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
JBrowse link
G Clu clusterin ISO
IEP
RGD PMID:18378577 PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr14:66,205,932...66,218,997
Ensembl chr14:66,205,932...66,218,996
JBrowse link
G Col8a2 collagen, type VIII, alpha 2 IAGP OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 4:126,180,587...126,208,123
Ensembl chr 4:126,180,586...126,208,123
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15352
    sensory system disease 6242
      eye disease 2930
        corneal disease 212
          corneal dystrophy 57
            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 15352
    disease of anatomical entity 14993
      nervous system disease 12639
        sensory system disease 6242
          eye disease 2930
            Hereditary Eye Diseases 771
              corneal dystrophy 57
                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