MCID: FCH001
MIFTS: 47

Fuchs' Endothelial Dystrophy malady

Genetic diseases, Eye diseases, Rare diseases categories

Aliases & Classifications for Fuchs' Endothelial Dystrophy

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Sources:
8Disease Ontology, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 33MeSH, 26ICD10 via Orphanet
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Aliases & Descriptions for Fuchs' Endothelial Dystrophy:

Name: Fuchs' Endothelial Dystrophy 8 21
Fuchs Endothelial Dystrophy 21 10 61
Fuchs' Endothelial Corneal Dystrophy 8 20
Fuchs Endothelial Corneal Dystrophy 21 48
Fuchs Dystrophy 21 44
Corneal Dystrophy, Fuchs' Endothelial, 1 61
Late Hereditary Endothelial Dystrophy 48
 
Corneal Dystrophy, Fuchs Endothelial 44
Endoepithelial Corneal Dystrophy 48
Fuchs' Corneal Dystrophy 8
Fuchs Corneal Dystrophy 21
Fuchs Atrophy 21
Fecd 48
Fced 8


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
fuchs endothelial corneal dystrophy:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Age of onset: Adult


External Ids:

Disease Ontology8 DOID:11555
ICD9CM27 371.57
NCIt39 C84721
MeSH33 D005642
Orphanet48 98974
ICD10 via Orphanet26 H18.5

Summaries for Fuchs' Endothelial Dystrophy

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Genetics Home Reference:21 Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.

MalaCards based summary: Fuchs' Endothelial Dystrophy, also known as fuchs endothelial dystrophy, is related to keratoconus and corneal edema. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (collagen, type VIII, alpha 2), and among its related pathways are Apoptosis and survival Anti apoptotic action of nuclear ESR1 and ESR2 and TP53 network. The compounds mim1 and bax channel blocker have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:8 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of descemet's membrane, leading to corneal edema and loss of vision.

Wikipedia:64 Fuchs\' dystrophy (pronounced fooks-DIS-tr?-fe), also known as Fuchs\' corneal endothelial dystrophy or... more...

Related Diseases for Fuchs' Endothelial Dystrophy

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Diseases related to Fuchs' Endothelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1keratoconus31.1VSX1, COL8A2, TGFBI
2corneal edema30.6SLC4A11, VSX1
3corneal dystrophy30.3SLC4A11, VSX1, COL8A2, COL8A1, TGFBI
4endotheliitis11.1
5corneal dystrophy, fuchs endothelial, 710.7
6cataract10.6
7keratopathy10.6
8bullous keratopathy10.6
9corneal dystrophy, fuchs endothelial, 610.5
10corneal dystrophy, fuchs endothelial, 310.5
11corneal dystrophy, fuchs endothelial, 410.5
12eye disease10.5
13corneal dystrophy, fuchs endothelial, 510.4
14corneal dystrophy, fuchs endothelial, 810.4
15ocular hypertension10.4
16myotonic dystrophy10.4
17posterior cortical atrophy10.4
18corneal dystrophy, fuchs endothelial, 110.3
19corneal dystrophy, fuchs endothelial, 210.3
20blepharospasm10.3
21corneal dystrophy, posterior polymorphous, 110.2ZEB1, COL8A2, VSX1
22reticulosarcoma10.1BCL2, CLU
23lung cancer10.0PRDX5, BCL2, BAX
24b-cell lymphomas10.0BAX, BCL2, CLU
25endometrial cancer10.0TCF4, BCL2, BAX
26lung cancer susceptibility 39.9TGFBI, PRDX5, BCL2, BAX
27small cell cancer of the lung, somatic9.9BAX, BCL2, PRDX5
28malignant glioma9.8BAX, BCL2, CLU, PITX2
29ovarian cancer, somatic9.8CLU, PRDX5, BCL2, BAX
30cervical cancer, somatic9.8CLU, BCL2, BAX
31adenocarcinoma9.8BAX, BCL2, PRDX6, CLU, TGFBI
32hepatocellular carcinoma9.8CLU, TCF4, PRDX5, BCL2, BAX
33tongue squamous cell carcinoma9.8CLU, TCF4, PRDX2, BCL2, BAX
34colorectal cancer9.7TGFBI, CLU, TCF4, BCL2, BAX
35leukemia9.7PITX2, TGFBI, TCF4, BCL2, BAX
36breast cancer9.6PITX2, CLU, PRDX2, PRDX6, PRDX5, BCL2

Graphical network of the top 20 diseases related to Fuchs' Endothelial Dystrophy:



Diseases related to fuchs' endothelial dystrophy

Symptoms for Fuchs' Endothelial Dystrophy

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Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Fuchs' Endothelial Dystrophy

Search NIH Clinical Center for Fuchs' Endothelial Dystrophy

Genetic Tests for Fuchs' Endothelial Dystrophy

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Genetic tests related to Fuchs' Endothelial Dystrophy:

id Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy20

Anatomical Context for Fuchs' Endothelial Dystrophy

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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

31
Endothelial, Eye

Animal Models for Fuchs' Endothelial Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8TCF4, LOXHD1, ZEB1, BCL2, BAX, SLC4A11
2MP:00053678.7CLU, BCL2, BAX, SLC4A11, PRDX6
3MP:00053888.1BAX, BCL2, PITX2, PRDX6, PRDX3, ZEB1
4MP:00036317.9VSX1, BCL2, ZEB1, LOXHD1, TCF4, CLU
5MP:00053977.8ZEB1, BAX, BCL2, PITX2, TGFBI, TCF4
6MP:00053917.7SLC4A11, PITX2, PRDX6, ZEB1, COL8A1, COL8A2
7MP:00053767.4BCL2, PRDX6, SLC4A11, BAX, ZEB1, PITX2
8MP:00053877.3TGFBI, PRDX3, CLU, TCF4, PRDX2, ZEB1
9MP:00053847.1PITX2, BAX, BCL2, COL8A2, PRDX3, PRDX6

Publications for Fuchs' Endothelial Dystrophy

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Articles related to Fuchs' Endothelial Dystrophy:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy. (24508788)
2014
2
Vision-related Quality of Life Before and After Keratoplasty for Fuchs' Endothelial Dystrophy. (25015214)
2014
3
A retrospective study of the association between Fuchs' endothelial dystrophy and glaucoma. (25378902)
2014
4
Corneal Abnormalities Early in the Course ofA Fuchs' Endothelial Dystrophy. (25156138)
2014
5
Outcome of Two Corneal Collagen Crosslinking Methods in Bullous Keratopathy due to Fuchs' Endothelial Dystrophy. (25484904)
2014
6
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. (23607620)
2013
7
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. (23901260)
2013
8
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. (22480739)
2012
9
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. (22234156)
2012
10
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. (20847662)
2011
11
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. (21045656)
2011
12
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. (21212708)
2011
13
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. (20057291)
2010
14
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. (20597912)
2010
15
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. (19320314)
2009
16
Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. (19507099)
2009
17
Increased clusterin expression in Fuchs' endothelial dystrophy. (18378577)
2008
18
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. (18580259)
2008
19
Decreased expression of peroxiredoxins in Fuchs' endothelial dystrophy. (18378575)
2008
20
Simultaneous phacoemulsification and DSEK in patients with concomitant cataract and bullous keratopathy due to Fuchs endothelial dystrophy. (18812092)
2008
21
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. (17964396)
2007
22
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. (16876867)
2006
23
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. (17102674)
2006
24
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. (17057173)
2006
25
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. (16996603)
2006
26
Cataract extraction in eyes with Fuchs' endothelial dystrophy in China. (16098269)
2005
27
Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy. (16473218)
2005
28
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (15175909)
2004
29
Corneal decompensation after laser in situ keratomileusis in fuchs' endothelial dystrophy. (12792486)
2003
30
Mechanisms of disease: Fuchs' endothelial dystrophy. (12064077)
2002
31
The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. (11709009)
2001
32
Fuchs' endothelial dystrophy: a fresh look at an aging disease. (10627840)
1999
33
Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. (10396196)
1999
34
In vivo confocal microscopy of Fuchs' endothelial dystrophy. (9756443)
1998
35
Long-term results after penetrating keratoplasty for Fuchs' endothelial dystrophy. (8540845)
1996
36
Diagnosis of advanced Fuchs' endothelial dystrophy with the confocal microscope. (8238235)
1993
37
Blepharospasm and Fuchs' endothelial dystrophy. (8119439)
1993
38
Fuchs' endothelial dystrophy of the cornea. (8235998)
1993
39
Keratoconus and Fuchs' endothelial dystrophy. (1889226)
1991
40
Cataract formation following corneal transplantation in eyes with Fuchs' endothelial dystrophy. (2078957)
1990
41
Characterization of stroma from Fuchs' endothelial dystrophy corneas. (2785446)
1989
42
Moderate Fuchs' endothelial dystrophy ATPase pump site density. (2545644)
1989
43
Cytochrome oxidase activity of Fuchs' endothelial dystrophy. (3026733)
1986
44
Characterization of the Descemet's membrane/posterior collagenous layer isolated from Fuchs' endothelial dystrophy corneas. (6389163)
1984
45
Long term results of corneal grafting in Fuchs' endothelial dystrophy. (6380203)
1984
46
Is there an association between Fuchs' endothelial dystrophy and cardiovascular disease? (6333375)
1984
47
Bullous keratopathy (Fuchs' endothelial dystrophy) treated systemically with 4-trans-amino-cyclohexano-carboxylic acid. (302548)
1977
48
Inheritance of Fuchs' endothelial dystrophy. (5313141)
1971
49
Fate of successful corneal grafts in Fuchs' endothelial dystrophy. (4900890)
1969
50
THE FINE STRUCTURE OF THE CORNEA IN FUCHS' ENDOTHELIAL DYSTROPHY. (14121146)
1964

Variations for Fuchs' Endothelial Dystrophy

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Clinvar genetic disease variations for Fuchs' Endothelial Dystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZEB1NM_030751.5(ZEB1): c.233A> C (p.Asn78Thr)single nucleotide variantPathogenicrs80194531GRCh37Chr 10, 31750140: 31750140
2ZEB1NM_030751.5(ZEB1): c.2519A> C (p.Gln840Pro)single nucleotide variantPathogenicrs118020901GRCh37Chr 10, 31810782: 31810782
3SLC4A11NM_001174089.1(SLC4A11): c.2078G> A (p.Gly693Glu)single nucleotide variantPathogenicrs267607064GRCh37Chr 20, 3209598: 3209598
4SLC4A11NM_001174089.1(SLC4A11): c.2213C> T (p.Thr738Met)single nucleotide variantPathogenicrs267607066GRCh37Chr 20, 3209333: 3209333
5SLC4A11SLC4A11, 2-BP DEL, 99TCdeletionPathogenic
6SLC4A11NM_001174089.1(SLC4A11): c.1147G> A (p.Glu383Lys)single nucleotide variantPathogenicrs267607065GRCh37Chr 20, 3211600: 3211600
7COL8A2NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys)single nucleotide variantPathogenicrs80358191GRCh37Chr 1, 36563919: 36563919
8COL8A2NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp)single nucleotide variantPathogenicrs80358192GRCh37Chr 1, 36563933: 36563933
9AGBL1NM_152336.2(AGBL1): c.3082C> T (p.Arg1028Ter)single nucleotide variantPathogenicrs185919705GRCh37Chr 15, 87217666: 87217666
10AGBL1NM_152336.2(AGBL1): c.2969G> C (p.Cys990Ser)single nucleotide variantPathogenicrs181958589GRCh37Chr 15, 87217553: 87217553

Expression for genes affiliated with Fuchs' Endothelial Dystrophy

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Search GEO for disease gene expression data for Fuchs' Endothelial Dystrophy.

Pathways for genes affiliated with Fuchs' Endothelial Dystrophy

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Compounds for genes affiliated with Fuchs' Endothelial Dystrophy

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Compounds related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1mim16010.1BAX, BCL2
2bax channel blocker6010.1BAX, BCL2
3bax inhibitor peptide v56010.1BAX, BCL2
4ha14-16010.1BCL2, BAX
5at 1016010.1BCL2, BAX
6ponicidin4410.1BCL2, BAX
7mononucleotide4410.1TCF4, BAX
8gambogic acid4410.1BAX, BCL2
9tanshinone iia4410.1BCL2, BAX
10evodiamine4410.1BAX, BCL2
11ptpc4410.1BCL2, BAX
12oridonin4410.1BAX, BCL2
13bongkrekic acid4410.1BAX, BCL2
144,6-diamidino-2-phenylindole4410.1BCL2, BAX
1510-hydroxycamptothecin4410.1BAX, BCL2
16bufalin4410.1BCL2, BAX
17ursolic acid4410.0BAX, BCL2
18beta-lapachone4410.0BAX, BCL2
19ginsenoside4410.0BCL2, BAX
20sanguinarine4410.0BCL2, BAX
21exisulind4410.0BAX, BCL2
22pd 1693164410.0BCL2, BAX
23shikonin4410.0BCL2, BAX
24diallyl disulfide449.9BCL2, BAX
25gossypol449.9BCL2, BAX
26eb 108944 6010.8BAX, BCL2, CLU
27dutp449.8BAX, BCL2, CLU
28chlorambucil44 1110.8BAX, BCL2
29camptothecin44 60 1111.7CLU, BAX, BCL2
30phenethyl isothiocyanate1 4410.7BCL2, BAX
31vitamin e succinate449.7BAX, BCL2
32docetaxel44 50 60 1112.7BAX, CLU, BCL2
33olomoucine44 1110.6BAX, BCL2
34agarose449.6CLU, BCL2, BAX
35hoechst 33342449.4BAX, BCL2
36sulforaphane449.3BCL2, PRDX5, BAX
37resveratrol44 60 24 1112.2PRDX5, BCL2, BAX
38adriamycin449.2BAX, BCL2, PRDX5
39dithiothreitol449.1PRDX6, PRDX5, PRDX2
40etoposide44 50 60 1112.0BAX, CLU, PRDX5, BCL2
41n acetylcysteine449.0BAX, CLU, PRDX5, BCL2
42curcumin448.9BAX, PRDX5, BCL2
43glyceraldehyde 3-phosphate448.8PRDX6, CLU, PRDX2, PRDX5
44cisplatin44 50 60 1111.7CLU, BCL2, PRDX5, BAX
45superoxide44 249.2PRDX3, CLU, PRDX2, PRDX6, PRDX5
46retinoic acid44 249.2BAX, PRDX2, CLU, BCL2, PRDX5
47cysteine448.2PRDX6, PITX2, TGFBI, CLU, PRDX2, PRDX5
48serine447.8PITX2, BCL2, PRDX5, PRDX6, PRDX2, CLU
49h2o2447.4PRDX5, PRDX6, PRDX2, CLU, BAX, BCL2
50oxygen44 248.4PRDX2, BAX, BCL2, PRDX3, CLU, PRDX5

GO Terms for genes affiliated with Fuchs' Endothelial Dystrophy

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Cellular components related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pore complexGO:00469309.8BAX, BCL2
2transcription factor complexGO:00056679.7ZEB1, TCF4, PITX2
3basement membraneGO:00056049.5TGFBI, COL8A1, COL8A2
4extracellular matrixGO:00310129.3COL8A2, COL8A1, CLU, TGFBI
5extracellular vesicular exosomeGO:00700627.7TGFBI, CLU, PRDX2, PRDX6, PRDX5, BAX
6mitochondrionGO:00057397.6CLU, PRDX5, PRDX3, BCL2, BAX
7cytosolGO:00058297.3CLU, PRDX2, PRDX6, PRDX5, BCL2, BAX

Biological processes related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1regulation of nitrogen utilizationGO:000680810.0BCL2, BAX
2epithelial cell proliferationGO:005067310.0COL8A2, COL8A1
3regulation of protein homodimerization activityGO:004349610.0BAX, BCL2
4camera-type eye morphogenesisGO:004859310.0COL8A1, COL8A2
5regulation of protein heterodimerization activityGO:004349710.0BAX, BCL2
6endoplasmic reticulum calcium ion homeostasisGO:003246910.0BAX, BCL2
7response to acidGO:000110110.0BCL2, BAX
8negative regulation of apoptotic signaling pathwayGO:020012349.9BAX, BCL2
9cellular response to organic substanceGO:00713109.9BAX, BCL2
10B cell homeostasisGO:00017829.9BCL2, BAX
11homeostasis of number of cells within a tissueGO:00488739.9BCL2, BAX
12spleen developmentGO:00485369.9PITX2, BCL2
13intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:00700599.8BAX, BCL2
14response to gamma radiationGO:00103329.8BCL2, BAX
15release of cytochrome c from mitochondriaGO:00018369.8BCL2, CLU, BAX
16positive regulation of intrinsic apoptotic signaling pathwayGO:020012449.7CLU, BCL2, BAX
17intrinsic apoptotic signaling pathwayGO:00971939.7BAX, BCL2, CLU
18extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.7BAX, BCL2
19neuron apoptotic processGO:00514029.6BCL2, BAX
20negative regulation of neuron apoptotic processGO:00435249.5BAX, BCL2, PRDX2
21regulation of mitochondrial membrane potentialGO:00518819.4PRDX3, BCL2, BAX
22angiogenesisGO:00015259.4COL8A2, COL8A1, TGFBI
23extrinsic apoptotic signaling pathway via death domain receptorsGO:00086259.4BCL2, BAX
24cellular response to reactive oxygen speciesGO:00346149.3PRDX5, PRDX3
25hydrogen peroxide catabolic processGO:00427448.4PRDX5, PRDX3, PRDX6, PRDX2
26response to oxidative stressGO:00069798.4PRDX2, PRDX6, PRDX5, PRDX3
27negative regulation of apoptotic processGO:00430668.3PRDX5, PRDX3, BCL2, PRDX2

Molecular functions related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1E-box bindingGO:007088810.0ZEB1, TCF4
2BH3 domain bindingGO:00514349.8BAX, BCL2
3channel activityGO:00152679.7BCL2, BAX
4peroxidase activityGO:00046018.9PRDX3, PRDX5
5antioxidant activityGO:00162098.8PRDX5, PRDX6, PRDX2
6cysteine-type endopeptidase inhibitor activity involved in apoptotic processGO:00430278.7PRDX3, PRDX5
7peroxiredoxin activityGO:00519208.7PRDX3, PRDX5, PRDX6

Sources for Fuchs' Endothelial Dystrophy

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet