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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 chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		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 chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		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:25741868 NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		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 chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		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 chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638 		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 chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850 		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 chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111 		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 chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:		 RGD PMID:22956607 PMID:22956607 RGD:8661808, RGD:8661808 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Clu clusterin ISO RGD PMID:18378577 PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 5:138,586,201...138,613,627
Ensembl chr 5:138,585,999...138,612,850 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:70,818,276...70,969,983
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        corneal disease 209
          corneal dystrophy 51
            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 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            Hereditary Eye Diseases 758
              corneal dystrophy 51
                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