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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 IEP protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP
ISO		 protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:		 RGD PMID:22956607 PMID:22956607 RGD:8661808, RGD:8661808 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CLU clusterin IEP
ISO		 RGD PMID:18378577 PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		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 1:36,095,239...36,125,222
Ensembl chr 1:36,095,239...36,125,222 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		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 IAGP
EXP		 ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3
ClinVar Annotator: match by term: FCD2 LOCUS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:18728071 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		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 IAGP
EXP		 ClinVar Annotator: match by term: Corneal dystrophy, fuchs endothelial, 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4		 ClinVar
CTD
OMIM		 PMID:16767101 PMID:18024964 PMID:22072594 PMID:25741868 PMID:29327391 NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6		 OMIM
CTD
ClinVar		 PMID:20036349 PMID:23599324 PMID:25741868 PMID:26622166 PMID:28492532 More... NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC016987.1 novel transcript, antisense to AGBL1 IAGP ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8 ClinVar NCBI chr15:86,938,797...86,988,426
Ensembl chr15:86,938,797...86,988,426 		JBrowse link
G AGBL1 AGBL carboxypeptidase 1 IAGP
EXP		 ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24094747 PMID:25741868 NCBI chr15:86,079,620...87,031,476
Ensembl chr15:86,079,871...87,049,169 		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 IAGP
EXP		 ClinVar Annotator: match by term: Corneal dystrophy Fuchs endothelial early-onset
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial 1		 ClinVar
CTD
OMIM		 PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 More... NCBI chr 1:36,095,239...36,125,222
Ensembl chr 1:36,095,239...36,125,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 29219
    sensory system disease 8033
      eye disease 4142
        corneal disease 280
          corneal dystrophy 70
            corneal endothelial dystrophy 11
              Fuchs' endothelial dystrophy 10
                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 2
                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 29219
    Pathological Conditions, Signs and Symptoms 16490
      Signs and Symptoms 13106
        Neurologic Manifestations 12216
          sensory system disease 8033
            eye disease 4142
              Hereditary Eye Diseases 1319
                corneal dystrophy 70
                  corneal endothelial dystrophy 11
                    Fuchs' endothelial dystrophy 10
                      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 2
                      Corneal Dystrophy, Fuchs' Endothelial, 1 1
                      Corneal Dystrophy, Fuchs' Endothelial, 2 0
                      Fuchs Atrophia Gyrata Chorioideae et Retinae 0
paths to the root