MCID: ELS001
MIFTS: 52

Eales Disease

Categories: Cardiovascular diseases, Eye diseases, Rare diseases

Aliases & Classifications for Eales Disease

MalaCards integrated aliases for Eales Disease:

Name: Eales Disease 53 59 55 73
Idiopathic Recurrent Vitreal Hemorrhage 53
Idiopathic Obliterative Vasculopathy 53
Idiopathic Retinal Perivasculitis 59
Idiopathic Retinal Vasculitis 59

Characteristics:

Orphanet epidemiological data:

59
eales disease
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA40923
MESH via Orphanet 45 C538011
UMLS via Orphanet 74 C0271073
ICD10 via Orphanet 34 H35.0
UMLS 73 C0271073

Summaries for Eales Disease

NIH Rare Diseases : 53 Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease. 

MalaCards based summary : Eales Disease, also known as idiopathic recurrent vitreal hemorrhage, is related to choroiditis and retinal ischemia. An important gene associated with Eales Disease is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Ranibizumab and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and t cells, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 76 Eales disease is a type of obliterative vasculopathy, also known as angiopathia retinae juvenilis,... more...

Related Diseases for Eales Disease

Diseases related to Eales Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 348)
# Related Disease Score Top Affiliating Genes
1 choroiditis 30.3 IL10 TNF
2 retinal ischemia 30.0 SOD1 TNF VEGFA
3 ulcerative colitis 29.7 IFNG IL10 IL1B IL6 TNF
4 uveitis 29.3 IFNG IL10 IL4 RBP3 SAG TNF
5 colitis 29.2 IFNG IL10 IL1B IL4 IL6 NOS2
6 irvan syndrome 12.1
7 neuroretinitis 10.7
8 retinal vasculitis 10.3
9 vasculitis 10.3
10 cephalosporin allergy 10.3 IFNG IL10
11 anthracosis 10.3 SOD1 TNF
12 sporotrichosis 10.3 IFNG IL10
13 cow milk allergy 10.3 IL10 TNF
14 trichuriasis 10.3 IL10 TNF
15 trichosporonosis 10.3 IFNG TNF
16 transient hypogammaglobulinemia 10.3 IL10 TNF
17 mucocutaneous leishmaniasis 10.3 IL10 TNF
18 cardiac sarcoidosis 10.3 IFNG TNF
19 microscopic polyangiitis 10.3 IL10 TNF
20 multifocal choroiditis 10.3 IL10 TNF
21 punctate inner choroidopathy 10.3 IL10 TNF
22 miliary tuberculosis 10.3 IFNG TNF
23 chronic beryllium disease 10.3 IFNG TNF
24 meningitis and encephalitis 10.3 CP SOD1
25 gaucher disease, type ii 10.3 IL10 IL4
26 retinitis pigmentosa 22 10.3 IL10 IL4
27 crustacean allergy 10.3 IFNG IL4
28 atopic keratoconjunctivitis 10.3 IFNG IL4
29 eye lymphoma 10.3 IL10 IL6
30 retinitis pigmentosa 55 10.3 IL6 TNF
31 angioimmunoblastic lymphadenopathy with dysproteinemia 10.3 IL6 TNF
32 acute transverse myelitis 10.3 IL10 IL6
33 juvenile ankylosing spondylitis 10.3 IL6 TNF
34 anca-associated vasculitis 10.3 IL6 TNF
35 null-cell leukemia 10.3 IL6 TNF
36 leukomalacia 10.3 IL6 TNF
37 scorpion envenomation 10.3 IL6 TNF
38 cardiogenic shock 10.3 IL6 TNF
39 campylobacteriosis 10.3 IFNG IL1B
40 streptococcal toxic-shock syndrome 10.3 IL6 TNF
41 burns 10.3 IL1B TNF
42 exudative glomerulonephritis 10.3 IL1B TNF
43 rheumatoid lung disease 10.3 IL1B TNF
44 vulvar vestibulitis syndrome 10.3 IL1B TNF
45 papillary conjunctivitis 10.2 IL4 IL6
46 melancholia 10.2 TF TNF
47 autoimmune vasculitis 10.2 IL1B IL4
48 peyronie disease 10.2 NOS2 SOD1
49 diversion colitis 10.2 IL1B IL4
50 periodontitis, chronic 10.2 IL1B IL6

Graphical network of the top 20 diseases related to Eales Disease:



Diseases related to Eales Disease

Symptoms & Phenotypes for Eales Disease

MGI Mouse Phenotypes related to Eales Disease:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.3 CP IFNG IL10 IL1B IL4 IL6
2 homeostasis/metabolism MP:0005376 10.29 CP IFNG IL10 IL1B IL4 IL6
3 cardiovascular system MP:0005385 10.28 CP IFNG IL10 IL1B IL6 NOS2
4 growth/size/body region MP:0005378 10.24 IFNG IL10 IL1B IL4 IL6 NOS2
5 immune system MP:0005387 10.24 CP IFNG IL10 IL1B IL4 IL6
6 cellular MP:0005384 10.23 CP IFNG IL10 IL4 IL6 NOS2
7 endocrine/exocrine gland MP:0005379 10.2 IFNG IL10 IL4 IL6 NOS2 SERPINF1
8 digestive/alimentary MP:0005381 10.16 IFNG IL10 IL4 IL6 NOS2 SERPINF1
9 integument MP:0010771 10.13 IFNG IL10 IL1B IL4 IL6 NOS2
10 mortality/aging MP:0010768 10.13 IFNG IL10 IL1B IL4 IL6 NOS2
11 nervous system MP:0003631 10.13 CP IFNG IL10 IL1B IL4 IL6
12 craniofacial MP:0005382 10.11 IFNG IL10 IL1B IL4 NOS2 TNF
13 liver/biliary system MP:0005370 10.11 CP IFNG IL10 IL4 IL6 NOS2
14 neoplasm MP:0002006 9.97 IFNG IL10 IL1B IL6 NOS2 SOD1
15 muscle MP:0005369 9.95 IFNG IL10 IL6 NOS2 SOD1 TNF
16 reproductive system MP:0005389 9.91 IFNG IL10 IL4 IL6 NOS2 SERPINF1
17 respiratory system MP:0005388 9.7 IFNG IL10 IL4 IL6 NOS2 TNF
18 skeleton MP:0005390 9.65 IFNG IL10 IL1B IL4 IL6 NOS2
19 vision/eye MP:0005391 9.4 CP IFNG IL10 IL4 IL6 NOS2

Drugs & Therapeutics for Eales Disease

Drugs for Eales Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 2, Phase 3 347396-82-1 459903
2 Immunologic Factors Phase 2, Phase 3
3 Angiogenesis Modulating Agents Phase 2, Phase 3
4 Angiogenesis Inhibitors Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lucentis (Ranibizumab) for Eales' Disease Completed NCT00384449 Phase 2, Phase 3 Ranibizumab

Search NIH Clinical Center for Eales Disease

Genetic Tests for Eales Disease

Anatomical Context for Eales Disease

MalaCards organs/tissues related to Eales Disease:

41
Retina, Eye, T Cells, Lung, Brain, Liver, Heart

Publications for Eales Disease

Articles related to Eales Disease:

(show top 50) (show all 171)
# Title Authors Year
1
Spectral domain optical coherence tomography evaluation of macular changes in Eales disease. ( 29480258 )
2018
2
Retinal vasculitis and Eales disease. ( 29599058 )
2018
3
Pediatric Eales Disease: An Indian Tertiary Eye Center Experience. ( 29709043 )
2018
4
Progression of Eales' disease post-partum and long-term follow-up: a case report. ( 30326970 )
2018
5
Choroidal Tuberculoma Manifesting in A Patient of Eales Disease 6 Years after Initial Presentation. ( 30339475 )
2018
6
Unilateral Eales' disease a case report. ( 29450389 )
2017
7
Long-Term Outcomes of a Large Cohort of Patients with Eales' Disease. ( 28448727 )
2017
8
Role of high-resolution computerized tomography chest in identifying tubercular etiology in patients diagnosed as Eales' disease. ( 28101723 )
2017
9
A rare presentation of exudative macroaneurysms in unilateral Eales' disease. ( 29022965 )
2017
10
Eales disease in a young adult man Case report. ( 29516052 )
2017
11
Detection of Mycobacterium tuberculosis with nested polymerase chain reaction analysis in enucleated eye ball in Eales' disease. ( 26499903 )
2016
12
Ultra-wide field angiography in the management of Eales disease. ( 27609162 )
2016
13
Steroid-responsive painful ophthalmoplegia: Tolosa-Hunt syndrome, Eales disease, or both? ( 26842710 )
2016
14
Eales Disease. ( 28586583 )
2016
15
Localization of Human Copper Transporter 1 in the Eye and its Role in Eales Disease. ( 26807780 )
2016
16
Association of Mycobacterium tuberculosis in the causation of Eales' disease: an institutional experience. ( 25657155 )
2015
17
Angiogenic potential of vitreous from proliferative diabetic retinopathy and eales' disease patients. ( 25310689 )
2014
18
Eales disease: no typical clinical presentation. ( 25374641 )
2014
19
Combination of intravitreal bevacizumab and peripheral photocoagulation: an alternative treatment in eales disease. ( 24600639 )
2013
20
Profiling of human leukocyte antigens in Eales disease and tuberculosis. ( 23386050 )
2013
21
Surgical outcomes of minimally invasive vitrectomy surgery in Eales' disease. ( 24172552 )
2013
22
Eales' disease - current concepts in diagnosis and management. ( 23514227 )
2013
23
Eales' disease with neurological complications. ( 24005742 )
2013
24
Increased homocysteine, homocysteine-thiolactone, protein homocysteinylation and oxidative stress in the circulation of patients with Eales' disease. ( 23761385 )
2013
25
The use of a vascular endothelial growth factor inhibitor (ranibizumab) in macular edema due to eales disease. ( 25390730 )
2012
26
Quantitative polymerase chain reaction for Mycobacterium tuberculosis in so-called Eales' disease. ( 22486260 )
2012
27
Protein-ligand interaction studies of retinol-binding protein 3 with herbal molecules using AutoDock for the management of Eales' disease. ( 24376904 )
2012
28
Eales disease associated with serpiginous choroiditis. ( 23143459 )
2012
29
Intravitreal bevacizumab as an adjunct to vitrectomy in advanced Eales' disease. ( 22089976 )
2012
30
Secondary rhegmatogenous retinal detachment following intravitreal bevacizumab in patients with vitreous hemorrhage or tractional retinal detachment secondary to Eales' disease. ( 22169980 )
2012
31
Vitreopapillary and vitreomacular traction in proliferative Eales' disease. ( 23109416 )
2012
32
Eales' disease following hypothyroidism secondary to Hashimotos thyroiditis. ( 23198627 )
2012
33
Assessment of gelatinase and tumor necrosis factor-I+ level in the vitreous and serum of patients with Eales disease: role of inflammation-mediated angiogenesis in the pathogenesis of Eales disease. ( 21394064 )
2011
34
Role of intravitreal bevacizumab in Eales disease with dense vitreous hemorrhage: a prospective randomized control study. ( 21301382 )
2011
35
Case report: ampiginous chorioretinopathy associated with eales disease in a patient with presumed tuberculosis. ( 25390176 )
2011
36
Association of interferon-gamma, interleukin-10, and tumor necrosis factor-alpha gene polymorphisms with occurrence and severity of Eales' disease. ( 20720222 )
2011
37
Elevated tumor necrosis factor in serum is associated with increased retinal ischemia in proliferative eales' disease. ( 21849807 )
2011
38
Impact of interleukin-6 promoter polymorphism and serum interleukin-6 level on the acute inflammation and neovascularization stages of patients with Eales' disease. ( 22025890 )
2011
39
Increased Toll-like receptor-2 expression on nonclassic CD16+ monocytes from patients with inflammatory stage of Eales' disease. ( 21791592 )
2011
40
Total antioxidant capacity in Eales' disease, uveitis & cataract. ( 21808139 )
2011
41
Antioxidant supplementation improves platelet membrane fluidity in idiopathic retinal periphlebitis (Eales' disease). ( 20973744 )
2010
42
Serum interferon-gamma/interleukin-4 imbalance in patients with Eales' disease. ( 20533927 )
2010
43
Role of intravitreal bevacizumab in the management of Eales' disease. ( 19165424 )
2010
44
Intra-ocular expression of vascular endothelial growth factor (VEGF) and pigment epithelial-derived factor (PEDF) in a case of Eales' disease by immunohistochemical analysis: a case report. ( 20049507 )
2010
45
Eales' disease: diagnosis and management. ( 20075970 )
2010
46
Tumor necrosis factor-α-mediated severity of idiopathic retinal periphlebitis in young adults (Eales' disease): implication for anti-TNF-α therapy. ( 21139707 )
2010
47
Comparative modeling of retinol-binding protein-3 and retinal S-antigen in Eales' disease and prediction of their binding sites using computational methods. ( 22833777 )
2010
48
Ratio of the vitreous vascular endothelial growth factor and pigment epithelial-derived factor in Eales disease. ( 20072643 )
2009
49
Proinflammatory cytokines and angiogenic and antiangiogenic factors in vitreous of patients with proliferative diabetic retinopathy and Eales' disease (ED). ( 18936719 )
2009
50
Spontaneous relief of vitreomacular traction and regression of neovascularization in eales disease after intravitreal injection of bevacizumab. ( 25391054 )
2009

Variations for Eales Disease

Expression for Eales Disease

Search GEO for disease gene expression data for Eales Disease.

Pathways for Eales Disease

Pathways related to Eales Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 IFNG IL10 IL1B IL4 IL6 NOS2
2
Show member pathways
13.52 IFNG IL10 IL1B IL4 IL6 TNF
3
Show member pathways
13.39 IFNG IL10 IL1B IL4 IL6 NOS2
4
Show member pathways
13.04 IFNG IL10 IL1B IL6 NOS2 TNF
5
Show member pathways
12.92 IFNG IL10 IL1B IL4 IL6 TNF
6 12.85 IFNG IL4 IL6 NOS2 VEGFA
7
Show member pathways
12.81 IFNG IL1B IL4 IL6 TNF
8
Show member pathways
12.67 IFNG IL10 IL1B IL4 IL6 TNF
9
Show member pathways
12.65 IFNG IL10 IL1B IL6 NOS2 TNF
10
Show member pathways
12.61 IFNG IL10 IL4 TNF
11 12.61 IFNG IL10 IL1B IL4 TNF
12
Show member pathways
12.49 IFNG IL10 IL1B IL4 IL6 TNF
13
Show member pathways
12.41 IFNG IL10 IL4 IL6
14
Show member pathways
12.4 IFNG IL1B IL4 IL6 TNF
15
Show member pathways
12.4 IFNG IL1B IL4 IL6 SOD1 TNF
16
Show member pathways
12.38 IFNG IL1B IL6 NOS2 TNF
17
Show member pathways
12.33 IFNG IL10 IL1B IL4 IL6 TNF
18
Show member pathways
12.31 IFNG IL10 IL1B IL4 NOS2 TNF
19
Show member pathways
12.3 CP IL1B IL6 NOS2 TNF
20 12.27 IFNG IL6 NOS2 TNF VEGFA
21 12.27 IFNG IL10 IL1B IL6 NOS2 TNF
22
Show member pathways
12.25 IL10 IL1B IL6 TNF
23
Show member pathways
12.22 IFNG IL1B IL4 IL6 NOS2 TNF
24 12.2 IL10 IL1B IL6 TF TNF VEGFA
25 12.14 IFNG IL1B TNF VEGFA
26
Show member pathways
12.13 IFNG IL10 IL1B IL6 TNF
27
Show member pathways
12.12 IFNG IL10 IL1B IL4 IL6
28 12.08 IFNG IL10 IL4 IL6 TNF
29
Show member pathways
12.04 IFNG IL1B IL4 NOS2
30 12.03 IFNG IL1B TNF
31
Show member pathways
12.03 IFNG IL1B IL4 IL6 SOD1 TNF
32 12 IFNG IL6 NOS2 TF VEGFA
33 11.99 IFNG IL1B IL4 IL6 NOS2 TNF
34 11.98 IL1B IL6 TNF VEGFA
35 11.97 IL1B IL4 IL6 TNF
36 11.96 IL1B IL6 TNF
37 11.94 IFNG IL1B IL6
38 11.94 IFNG IL1B IL6 TNF VEGFA
39 11.91 IFNG IL1B IL6 NOS2
40 11.88 IFNG IL10 IL1B IL4 TNF
41 11.87 IFNG IL10 IL6
42 11.85 IL10 IL1B IL6 NOS2 TNF
43 11.83 IFNG IL4 IL6
44 11.83 IFNG IL10 IL1B IL6 NOS2 TNF
45 11.81 IFNG IL10 IL1B IL6 TNF
46
Show member pathways
11.79 IFNG IL4 TNF
47 11.78 CP NOS2 TF VEGFA
48 11.76 IL1B IL4 IL6 TNF
49 11.76 IL10 IL1B IL4 IL6 NOS2 TNF
50
Show member pathways
11.68 CP NOS2 SOD1

GO Terms for Eales Disease

Cellular components related to Eales Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 CP IFNG IL10 IL1B IL4 IL6
2 extracellular space GO:0005615 9.4 CP IFNG IL10 IL1B IL4 IL6
3 secretory granule GO:0030141 9.33 IL1B SOD1 VEGFA

Biological processes related to Eales Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.94 IFNG IL1B TNF VEGFA
2 negative regulation of gene expression GO:0010629 9.93 IFNG NOS2 SERPINF1 TNF VEGFA
3 positive regulation of gene expression GO:0010628 9.93 IFNG IL1B IL4 IL6 TNF VEGFA
4 platelet degranulation GO:0002576 9.88 SOD1 TF VEGFA
5 activation of MAPK activity GO:0000187 9.87 IL1B SOD1 TNF
6 response to organic substance GO:0010033 9.87 IL10 SOD1 TNF
7 positive regulation of DNA-binding transcription factor activity GO:0051091 9.87 IL10 IL1B IL6 TNF
8 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.86 IL6 TNF VEGFA
9 positive regulation of T cell proliferation GO:0042102 9.84 IL1B IL4 IL6
10 positive regulation of interleukin-6 production GO:0032755 9.83 IL1B IL6 TNF
11 cellular iron ion homeostasis GO:0006879 9.83 CP SOD1 TF
12 humoral immune response GO:0006959 9.82 IFNG IL6 TNF
13 interleukin-12-mediated signaling pathway GO:0035722 9.78 IFNG IL10 SOD1
14 positive regulation of nitric oxide biosynthetic process GO:0045429 9.77 IFNG IL1B TNF
15 negative regulation of neurogenesis GO:0050768 9.73 IL1B IL6 TNF
16 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 IFNG IL4 IL6 VEGFA
17 positive regulation of protein complex assembly GO:0031334 9.72 IFNG TNF VEGFA
18 cellular response to lipopolysaccharide GO:0071222 9.72 IL10 IL1B IL6 NOS2 TNF
19 positive regulation of chemokine production GO:0032722 9.71 IL6 TNF
20 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.71 IL1B VEGFA
21 negative regulation of lipid catabolic process GO:0050995 9.71 IL1B TNF
22 regulation of insulin secretion GO:0050796 9.71 IFNG IL1B NOS2 TNF
23 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.7 IL1B TNF
24 negative regulation of growth of symbiont in host GO:0044130 9.7 IL10 TNF
25 regulation of signaling receptor activity GO:0010469 9.7 IFNG IL10 IL1B IL4 IL6 TNF
26 positive regulation of glial cell proliferation GO:0060252 9.69 IL1B IL6 TNF
27 negative regulation of lipid storage GO:0010888 9.68 IL6 TNF
28 endothelial cell apoptotic process GO:0072577 9.68 IL10 TNF
29 positive regulation of chemokine biosynthetic process GO:0045080 9.67 IL1B TNF
30 positive regulation of MHC class II biosynthetic process GO:0045348 9.67 IL10 IL4
31 regulation of establishment of endothelial barrier GO:1903140 9.67 IL1B TNF
32 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.67 IFNG IL1B TNF
33 response to glucocorticoid GO:0051384 9.67 IL10 IL1B IL6 TNF
34 negative regulation of cytokine secretion involved in immune response GO:0002740 9.66 IL10 TNF
35 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 IL10 IL1B TNF
36 positive regulation of fever generation GO:0031622 9.64 IL1B TNF
37 chronic inflammatory response to antigenic stimulus GO:0002439 9.63 IL1B TNF
38 positive regulation of killing of cells of other organism GO:0051712 9.63 IFNG NOS2
39 regulation of isotype switching GO:0045191 9.62 IL10 IL4
40 sequestering of triglyceride GO:0030730 9.62 IL1B TNF
41 type 2 immune response GO:0042092 9.61 IL10 IL4
42 receptor biosynthetic process GO:0032800 9.59 IL10 TNF
43 response to carbon monoxide GO:0034465 9.58 IL10 SOD1
44 positive regulation of vitamin D biosynthetic process GO:0060557 9.58 IFNG TNF
45 positive regulation of neuroinflammatory response GO:0150078 9.43 IL1B IL6 TNF
46 cytokine-mediated signaling pathway GO:0019221 9.17 IL10 IL1B IL4 IL6 NOS2 TNF
47 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.13 IFNG IL1B TNF
48 positive regulation of transcription by RNA polymerase II GO:0045944 10.17 IL10 IL1B IL4 IL6 TNF VEGFA
49 positive regulation of transcription, DNA-templated GO:0045893 10.09 IL10 IL1B IL4 IL6 TNF
50 negative regulation of apoptotic process GO:0043066 10.08 IL10 IL4 IL6 SOD1 VEGFA

Molecular functions related to Eales Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 IL10 IL4 IL6 VEGFA
2 cytokine activity GO:0005125 9.17 IFNG IL10 IL1B IL4 IL6 TNF

Sources for Eales Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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