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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:Fuchs' endothelial dystrophy
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Accession:DOID:11555 term browser browse the term
Definition:A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. (DO)
Synonyms:exact_synonym: FCED;   Fuch endothelial dystrophy;   Fuch's endothelial dystrophy;   Fuchs Corneal Dystrophy;   Fuchs Dystrophy;   Fuchs atrophy;   Fuchs endothelial corneal dystrophy
 primary_id: MESH:D005642
 xref: EFO:0003946;   GARD:10018;   ICD10CM:H18.51;   MONDO:0005321;   NCI:C84721;   OMIM:PS136800;   ORDO:98974
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 | ClinVar Annotator: match by term: FCD2 LOCUS		 OMIM
CTD
ClinVar		 PMID:18414213 PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 More... 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16767101 PMID:17220209 PMID:17679935 PMID:18024964 PMID:19369245 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, 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20036349 PMID:23599324 PMID:25741868 PMID:26622166 PMID:28492532 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8		 OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1		 OMIM
CTD
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        corneal disease 233
          corneal dystrophy 52
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy 9
                Cornea Guttata with Anterior Polar Cataract 0
                Corneal Dystrophy, Fuchs Endothelial, 3 1
                Corneal Dystrophy, Fuchs Endothelial, 4 1
                Corneal Dystrophy, Fuchs Endothelial, 5 0
                Corneal Dystrophy, Fuchs Endothelial, 6 1
                Corneal Dystrophy, Fuchs Endothelial, 7 0
                Corneal Dystrophy, Fuchs Endothelial, 8 1
                Corneal Dystrophy, Fuchs' Endothelial, 1 1
                Corneal Dystrophy, Fuchs' Endothelial, 2 0
                Fuchs Atrophia Gyrata Chorioideae et Retinae 0
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Hereditary Eye Diseases 1097
                corneal dystrophy 52
                  corneal endothelial dystrophy 10
                    Fuchs' endothelial dystrophy 9
                      Cornea Guttata with Anterior Polar Cataract 0
                      Corneal Dystrophy, Fuchs Endothelial, 3 1
                      Corneal Dystrophy, Fuchs Endothelial, 4 1
                      Corneal Dystrophy, Fuchs Endothelial, 5 0
                      Corneal Dystrophy, Fuchs Endothelial, 6 1
                      Corneal Dystrophy, Fuchs Endothelial, 7 0
                      Corneal Dystrophy, Fuchs Endothelial, 8 1
                      Corneal Dystrophy, Fuchs' Endothelial, 1 1
                      Corneal Dystrophy, Fuchs' Endothelial, 2 0
                      Fuchs Atrophia Gyrata Chorioideae et Retinae 0
paths to the root