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

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:decreased expression:aqueous humour

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

cyclin dependent kinase inhibitor 1A

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

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

clusterin

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

G

collagen type VIII alpha 2 chain

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

NCBI chr 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541

G

lipoxygenase homology PLAT domains 1

DNA:missense mutations: :multiple

NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921

Corneal Dystrophy, Fuchs Endothelial, 3

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Object Name

Evidence

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G

transcription factor 4

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

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

Corneal Dystrophy, Fuchs Endothelial, 4

term browser

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Object Name

Evidence

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PubMed Reference(s)

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G

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 chr20:3,311,640...3,324,966
Ensembl chr20:3,074,804...3,086,157

Corneal Dystrophy, Fuchs Endothelial, 6

term browser

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Object Name

Evidence

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Source

PubMed Reference(s)

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Position

G

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 chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550

Corneal Dystrophy, Fuchs Endothelial, 8

term browser

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Object Name

Evidence

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PubMed Reference(s)

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G

AGBL carboxypeptidase 1

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

PMID:24094747 PMID:25741868

NCBI chr15:64,774,408...65,603,628
Ensembl chr15:84,048,348...84,938,150

Corneal Dystrophy, Fuchs' Endothelial, 1

term browser

Symbol

Object Name

Evidence

Notes

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 chr 1:35,361,336...35,391,173
Ensembl chr 1:36,537,869...36,540,541

Term paths to the root

Path 1
Term	Annotations
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
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