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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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:cornea,nucleus:
protein:increased expression:nucleus:
RGD PMID:22956607 RGD:8661808 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CLU clusterin ISO RGD PMID:18378577 PMID:22956607 RGD:8661808 RGD:8696020 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
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 chr 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921
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 chr18:48,603,069...48,969,010
Ensembl chr18:51,938,357...52,352,030
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 chr20:3,311,640...3,324,966
Ensembl chr20:3,074,804...3,086,157
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 chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550
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 chr15:64,774,408...65,603,628
Ensembl chr15:84,048,348...84,938,150
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 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 6115
      eye disease 2861
        corneal disease 200
          corneal dystrophy 50
            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 14759
    disease of anatomical entity 14463
      nervous system disease 12318
        sensory system disease 6115
          eye disease 2861
            Hereditary Eye Diseases 758
              corneal dystrophy 50
                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