Fuchs' endothelial dystrophy - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:11555	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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Genes (9)

Fuchs' endothelial dystrophy

term browser

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Object Name

Evidence

Notes

Source

PubMed Reference(s)

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Position

G

complement C3

protein:decreased expression:aqueous humour

NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:

NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479

G

clusterin

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

G

collagen type VIII alpha 2 chain

OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523

NCBI chrNW_004955452:14,127,654...14,149,582
Ensembl chrNW_004955452:14,127,630...14,155,212

G

lipoxygenase homology PLAT domains 1

DNA:missense mutations: :multiple

NCBI chrNW_004955402:31,985,616...32,144,040
Ensembl chrNW_004955402:31,985,583...32,144,040

Corneal Dystrophy, Fuchs Endothelial, 3

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transcription factor 4

ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3

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

Corneal Dystrophy, Fuchs Endothelial, 4

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solute carrier family 4 member 11

ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4

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

Corneal Dystrophy, Fuchs Endothelial, 6

term browser

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zinc finger E-box binding homeobox 1

ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6

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

Corneal Dystrophy, Fuchs Endothelial, 8

term browser

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AGBL carboxypeptidase 1

ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8

PMID:24094747 PMID:25741868

NCBI chrNW_004955416:17,885,757...18,686,124
Ensembl chrNW_004955416:18,130,605...18,686,108

Corneal Dystrophy, Fuchs' Endothelial, 1

term browser

Symbol

Object Name

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type VIII alpha 2 chain

ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1

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

Term paths to the root

Path 1
Term	Annotations
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
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