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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.


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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
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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13559
    sensory system disease 5778
      eye disease 2680
        corneal disease 186
          corneal dystrophy 47
            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 13559
    Pathological Conditions, Signs and Symptoms 10383
      Signs and Symptoms 8462
        Neurologic Manifestations 8142
          sensory system disease 5778
            eye disease 2680
              Hereditary Eye Diseases 729
                corneal dystrophy 47
                  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