MCID: STR072
MIFTS: 50

Stromal Keratitis

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Stromal Keratitis

MalaCards integrated aliases for Stromal Keratitis:

Name: Stromal Keratitis 55 69

Characteristics:

Orphanet epidemiological data:

55
stromal keratitis
Prevalence: 1-5/10000 (Europe);

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

Orphanet 55 ORPHA137599
UMLS via Orphanet 70 C1318020
ICD10 via Orphanet 33 H16.3
UMLS 69 C1318020

Summaries for Stromal Keratitis

MalaCards based summary : Stromal Keratitis is related to reactive arthritis and lyme disease, and has symptoms including reduced visual acuity, deep anterior chamber and corneal stromal edema. An important gene associated with Stromal Keratitis is PAX6 (Paired Box 6), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Acyclovir and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, t cells and endothelial, and related phenotypes are hematopoietic system and immune system

Related Diseases for Stromal Keratitis

Diseases related to Stromal Keratitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 reactive arthritis 30.1 IL17A IL6 TNF
2 lyme disease 30.1 IL17A IL6 TNF
3 anterior uveitis 30.1 IL2RA IL6 TNF
4 uveitis 29.9 CCL2 CXCL10 IL17A IL2RA TNF
5 arthritis 29.5 CCL2 IL17A IL6 TNF
6 keratitis, hereditary 11.6
7 herpes simplex 10.5
8 scorpion envenomation 10.5 IL6 TNF
9 rheumatoid lung disease 10.5 IL17A TNF
10 angioimmunoblastic lymphadenopathy with dysproteinemia 10.5 IL6 TNF
11 critical limb ischemia 10.4 IL6 TNF
12 cutaneous candidiasis 10.4 IL17A IL2RA
13 opportunistic mycosis 10.4 IL17A IL17RA TNF
14 central nervous system vasculitis 10.4 IL17A IL6 TNF
15 transverse myelitis 10.4 IL17A IL6 TNF
16 myelitis 10.4 IL17A IL6 TNF
17 joint disorders 10.4 IL17A IL6 TNF
18 streptococcal toxic-shock syndrome 10.4 IL6 TNF
19 ileitis 10.4 IL17A IL6 TNF
20 echinococcosis 10.4 IL17A IL6 TNF
21 trichosporonosis 10.4 IL17A TNF
22 bronchiolitis obliterans 10.4 IL17A IL6 TNF
23 spondyloarthropathy 10.4 IL17A IL6 TNF
24 ileocolitis 10.4 IL2RA TNF
25 crimean-congo hemorrhagic fever 10.4 CXCL10 IL6 TNF
26 staphylococcal toxic shock syndrome 10.3 CIITA TNF
27 contact dermatitis 10.3 IL17A IL6 TNF
28 intermediate uveitis 10.3 IL2RA IL6 TNF
29 intestinal disease 10.3 IL17A IL6 TNF
30 paracoccidioidomycosis 10.3 CXCL10 IL6 TNF
31 spondylitis 10.3 IL17A IL6 TNF
32 cytomegalovirus infection 10.3 IL2RA IL6 TNF
33 hypersensitivity reaction disease 10.3 IL17A IL6 TNF
34 avian influenza 10.3 CXCL10 IL6 TNF
35 null-cell leukemia 10.3 IL6 TNF
36 idiopathic neutropenia 10.3 IL2RA IL6 TNF
37 brucellosis 10.3 IL2RA IL6 TNF
38 immune system disease 10.3 IL17A IL6 TNF
39 myocarditis 10.3 IL17A IL6 TNF
40 alopecia areata 10.3 CXCL10 IL2RA TNF
41 juvenile rheumatoid arthritis 10.3 IL2RA IL6 TNF
42 gastrointestinal system disease 10.3 IL17A IL6 TNF
43 ischemic heart disease 10.3 CCL2 IL6 TNF
44 neuritis 10.3 CCL2 CXCL10 TNF
45 severe acute respiratory syndrome 10.3 CCL2 CXCL10 TNF
46 dengue shock syndrome 10.2 CCL2 IL6 TNF
47 complex regional pain syndrome 10.2 CCL2 IL6 TNF
48 leptospirosis 10.2 CCL2 IL6 TNF
49 pyelonephritis 10.2 CCL2 IL6 TNF
50 pulmonary sarcoidosis 10.2 CCL2 IL2RA TNF

Graphical network of the top 20 diseases related to Stromal Keratitis:



Diseases related to Stromal Keratitis

Symptoms & Phenotypes for Stromal Keratitis

Human phenotypes related to Stromal Keratitis:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007663
2 deep anterior chamber 55 31 hallmark (90%) Very frequent (99-80%) HP:0007765
3 corneal stromal edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0012040
4 herpetiform corneal ulceration 55 31 frequent (33%) Frequent (79-30%) HP:0007812
5 descemet membrane folds 55 31 frequent (33%) Frequent (79-30%) HP:0012039
6 decreased corneal sensation 55 31 frequent (33%) Frequent (79-30%) HP:0012155
7 corneal perforation 55 31 frequent (33%) Frequent (79-30%) HP:0100583
8 keratitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000491
9 blindness 55 31 occasional (7.5%) Occasional (29-5%) HP:0000618
10 primary open angle glaucoma 55 Very frequent (99-80%)
11 increased lacrimation 55 Frequent (79-30%)
12 epiphora 31 frequent (33%) HP:0009926
13 open angle glaucoma 31 hallmark (90%) HP:0012108

MGI Mouse Phenotypes related to Stromal Keratitis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 CCR6 CD69 CIITA CXCL10 IL17A IL17RA
2 immune system MP:0005387 9.47 AIMP1 CCL2 CCR6 CD69 CIITA CXCL10

Drugs & Therapeutics for Stromal Keratitis

Drugs for Stromal Keratitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Acyclovir Phase 4,Phase 3
2 Anti-Infective Agents Phase 4,Phase 3
3 Antiviral Agents Phase 4,Phase 3
4 valacyclovir Phase 4
5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7 Prednisolone acetate Phase 3
8 Methylprednisolone acetate Phase 3
9 Methylprednisolone Hemisuccinate Phase 3
10 Gastrointestinal Agents Phase 3
11 Neuroprotective Agents Phase 3
12 Hormones Phase 3
13 Peripheral Nervous System Agents Phase 3
14 Antiemetics Phase 3
15 Prednisolone hemisuccinate Phase 3
16 Prednisolone phosphate Phase 3
17 Protective Agents Phase 3
18 Autonomic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Zoster Eye Disease Study Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
2 Herpetic Eye Disease Study (HEDS) I Unknown status NCT00000138 Phase 3 Prednisolone Phosphate;Acyclovir
3 Herpetic Eye Disease Study (HEDS) II Completed NCT00000139 Phase 3 Acyclovir

Search NIH Clinical Center for Stromal Keratitis

Genetic Tests for Stromal Keratitis

Anatomical Context for Stromal Keratitis

MalaCards organs/tissues related to Stromal Keratitis:

38
Eye, T Cells, Endothelial, Neutrophil, B Cells, Lymph Node, Skin

Publications for Stromal Keratitis

Articles related to Stromal Keratitis:

(show top 50) (show all 229)
# Title Authors Year
1
Application of our understanding of pathogenesis of herpetic stromal keratitis for novel therapy. ( 29329934 )
2018
2
CXCL9 compensates for the absence of CXCL10 during recurrent Herpetic stromal keratitis. ( 28282568 )
2017
3
Coexistence of herpes simplex virus infection in microsporidial stromal keratitis associated with granulomatous inflammation. ( 28513490 )
2017
4
Potential Clue to the Pathogenesis of Varicella-Zoster Virus Stromal Keratitis. ( 28799957 )
2017
5
Rapid resolution of stromal keratitis with the assistance of oral voriconazole in resistant acanthamoeba keratitis. ( 29296556 )
2017
6
Azacytidine Treatment Inhibits the Progression of Herpes Stromal Keratitis by Enhancing Regulatory T Cell Function. ( 28100624 )
2017
7
Delayed onset of pressure-induced interlamellar stromal keratitis in a patient with recurrent uveitis: A case report. ( 29310395 )
2017
8
Real-time polymerase chain reaction for the diagnosis of necrotizing herpes stromal keratitis. ( 27275421 )
2016
9
Microsporidial Stromal Keratitis: Successful Treatment with Topical Voriconazole and Oral Itraconazole. ( 28123915 )
2016
10
Clinical evaluation of deep anterior lamellar keratoplasty using glycerol-cryopreserved corneal tissues for refractory herpetic stromal keratitis: An observational study. ( 27684823 )
2016
11
Loss of Neurokinin-1 Receptor Alters Ocular Surface Homeostasis and Promotes an Early Development of Herpes Stromal Keratitis. ( 27798158 )
2016
12
Targeting Autophagy in Dendritic Cells as a Mechanism to Limit Immunopathogenesis in Herpetic Stromal Keratitis. ( 26758184 )
2016
13
Painful Acute Corneal Ulceration and Anterior Stromal Keratitis in an Adolescent With Reactive Arthritis. ( 27977029 )
2016
14
Microsporidial stromal keratitis and endophthalmitis in an immunocompetent patient. ( 27528053 )
2016
15
Microsporidial Stromal Keratitis: Clinical Features, Unique Diagnostic Criteria, and Treatment Outcomes in a Large Case Series. ( 27467044 )
2016
16
LASIK Interface Complications: Pressure-induced Stromal Keratitis (PISK), Interface Fluid Syndrome (IFS) and Post-LASIK Edema-induced Keratopathy (PLEK). ( 27257731 )
2016
17
Herpetic Stromal Keratitis following Selective Laser Trabeculoplasty. ( 26989540 )
2016
18
Amniotic membrane transplantation in bacterial and herpetic stromal keratitis. ( 27511511 )
2016
19
Management of Neonatal Herpes Simplex Infection: A Rare Case of Blepharoconjunctivitis and Concurrent Epithelial and Stromal Keratitis. ( 27849421 )
2016
20
Stromal keratitis in a neonate: Herpes virus a diagnosis to consider. ( 26710660 )
2016
21
A Central Role for Sympathetic Nerves in Herpes Stromal Keratitis in Mice. ( 27070108 )
2016
22
Large Amounts of Reactivated Virus in Tears Precedes Recurrent Herpes Stromal Keratitis in Stressed Rabbits Latently Infected with Herpes Simplex Virus. ( 25859798 )
2015
23
Therapeutic Use of Soluble Fas Ligand Ameliorates Acute and Recurrent Herpetic Stromal Keratitis in Mice. ( 26444718 )
2015
24
Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty in Stromal Keratitis Caused by an Endoreticulatus-like Microsporidia. ( 25826328 )
2015
25
Conjunctival flap covering combined with antiviral and steroid therapy for severe herpes simplex virus necrotizing stromal keratitis. ( 25785282 )
2015
26
Idiopathic stromal keratitis resembling central toxic keratopathy. ( 26210054 )
2015
27
Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study. ( 26590045 )
2015
28
Robo 4 Counteracts Angiogenesis in Herpetic Stromal Keratitis. ( 26720197 )
2015
29
Microsporidial stromal keratitis masquerading as acute graft rejection. ( 25533000 )
2015
30
Prevention of herpes simplex virus induced stromal keratitis by a glycoprotein B-specific monoclonal antibody. ( 25587898 )
2015
31
Confocal Microscopic Analysis of a Rabbit Eye Model of High-Incidence Recurrent Herpes Stromal Keratitis. ( 26555580 )
2015
32
Role of miR-155 in the Pathogenesis of Herpetic Stromal Keratitis. ( 25700796 )
2015
33
Impaired Fas-Fas Ligand Interactions Result in Greater Recurrent Herpetic Stromal Keratitis in Mice. ( 26504854 )
2015
34
Intrastromal bevacizumab injection for corneal neovascularization in herpetic stromal keratitis. ( 26342658 )
2015
35
IL-2/anti-IL-2 antibody complex treatment inhibits the development but not the progression of herpetic stromal keratitis. ( 25411200 )
2015
36
Do Unilateral Herpetic Stromal Keratitis and Neurotrophic Ulcers Cause Bilateral Dry Eye? ( 25933398 )
2015
37
Dendritic Cell Autophagy Contributes to Herpes Simplex Virus-Driven Stromal Keratitis and Immunopathology. ( 26507231 )
2015
38
Evaluation of Effect of Topical Tacrolimus Treatment on Herpetic Stromal Keratitis in a Rat Model. ( 25996419 )
2015
39
Corneal lymphangiogenesis in herpetic stromal keratitis. ( 25444520 )
2015
40
Herpes zoster stromal keratitis after varicella vaccine booster in a pediatric patient. ( 25062334 )
2014
41
Varicella-zoster virus detection in varicella-associated stromal keratitis. ( 24723158 )
2014
42
Correlation between matrix metalloproteinase expression and activation of the focal adhesion kinase signaling pathway in herpes stromal keratitis. ( 24348806 )
2014
43
A young immunocompetent patient with bilateral immune stromal keratitis due to varicella zoster and herpes simplex. ( 24985896 )
2014
44
Reversible nerve damage and corneal pathology in murine herpes simplex stromal keratitis. ( 24789786 )
2014
45
A forward phenotypically driven unbiased genetic analysis of host genes that moderate herpes simplex virus virulence and stromal keratitis in mice. ( 24651695 )
2014
46
CXCL1 but not IL-6 is required for recurrent herpetic stromal keratitis. ( 24442436 )
2014
47
Controlling herpetic stromal keratitis by modulating lymphotoxin-alpha-mediated inflammatory pathways. ( 23850656 )
2013
48
Pressure-induced interlamellar stromal keratitis after vitreoretinal surgery. ( 25390813 )
2013
49
Pressure-induced stromal keratitis. ( 23479805 )
2013
50
Absence of CXCL10 aggravates herpes stromal keratitis with reduced primary neutrophil influx in mice. ( 23720717 )
2013

Variations for Stromal Keratitis

Expression for Stromal Keratitis

Search GEO for disease gene expression data for Stromal Keratitis.

Pathways for Stromal Keratitis

Pathways related to Stromal Keratitis according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 CCL2 CCL20 CCL3 CCR6 CIITA CXCL10
2
Show member pathways
13.76 CCL2 CCL20 CCL3 CCR6 CXCL10 IL17A
3
Show member pathways
13.55 CCL2 CCL20 CCL3 CCR6 CXCL10 IL17A
4
Show member pathways
13.29 CCL2 CCL20 CCL3 CCR6 CXCL10 IL17A
5
Show member pathways
13.13 CCL2 CCL20 CCL3 CCR6 CXCL10 IL17A
6
Show member pathways
13.04 CCL2 CCL20 CCL3 CIITA CXCL10 IL17A
7
Show member pathways
12.82 CCL2 CCL20 CCL3 CCR6 CXCL10
8
Show member pathways
12.8 CIITA IL17A IL2RA IL6 TNF
9
Show member pathways
12.77 CCL2 CIITA CXCL10 IL2RA IL6 TNF
10
Show member pathways
12.58 IL17A IL1RAP IL2RA IL6 TNF TRB
11
Show member pathways
12.53 CCL2 CCL3 CXCL10 IL6 TNF
12 12.51 CCL2 CIITA CXCL10 IL17A IL2RA TNF
13
Show member pathways
12.38 IL17A IL6 TNF TRB
14
Show member pathways
12.24 CCL2 CCL20 CXCL10 IL17A IL17RA IL6
15
Show member pathways
12.16 CCL2 CCL20 CCL3 CCR6 CXCL10
16
Show member pathways
12.16 CCL20 CXCL10 IL1RAP IL6 TNF
17 12.01 CCL2 CXCL10 IL6 TNF
18
Show member pathways
12 CCL2 CCL20 CCL3 CCR6 CXCL10
19 11.99 CD69 IL2RA IL6 TNF
20 11.97 CCL2 IL17A IL6 TNF
21 11.96 CCL2 CCL20 CXCL10 IL6 TNF
22
Show member pathways
11.91 CCL3 IL2RA TRB
23
Show member pathways
11.87 IL17A IL6 TNF
24
Show member pathways
11.86 IL17A IL17RA IL1RAP IL6
25 11.85 CCL2 IL6 TNF
26 11.84 IL2RA IL6 TNF
27
Show member pathways
11.81 IL17A IL17RA IL6
28 11.8 CCL3 CCR6 IL17A IL2RA TNF
29 11.7 IL17RA IL6 TNF
30 11.7 CCR6 IL2RA IL6 TNF
31 11.69 CCL2 CCL20 CCL3 IL17A IL6 TNF
32 11.66 CCL2 CCL3 IL6 TNF
33 11.56 IL1RAP TNF TRB
34 11.51 CCL2 IL6 TNF
35
Show member pathways
11.37 CCL3 IL2RA TNF
36 11.31 IL17A IL6 TNF
37 11.27 IL6 TNF TRB
38 11.12 CCL2 CCL20 CCL3 CXCL10 IL6 TNF
39 10.98 CCL2 CCL20 CCL3 CXCL10 IL17A IL6
40 10.96 CCL2 CCL3 TNF
41 10.46 CCL2 CCL20 CCL3 CXCL10 IL17A IL6

GO Terms for Stromal Keratitis

Cellular components related to Stromal Keratitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 AIMP1 CCL2 CCL20 CCL3 CXCL10 IL17A
2 intracellular GO:0005622 9.87 CCL2 CCL20 CCL3 CCR6 IL2RA PAX6
3 cell surface GO:0009986 9.73 AIMP1 CCR6 CIITA IL2RA TNF TNFSF4
4 external side of plasma membrane GO:0009897 9.43 CCR6 CD69 CXCL10 IL17A IL2RA TNF
5 extracellular space GO:0005615 9.36 AIMP1 CCL2 CCL20 CCL3 CXCL10 IL17A

Biological processes related to Stromal Keratitis according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.96 CCL2 CCL3 IL2RA TNF
2 cell surface receptor signaling pathway GO:0007166 9.96 CCL2 CXCL10 IL17RA IL2RA
3 cell-cell signaling GO:0007267 9.95 AIMP1 CCL20 CCL3 CXCL10 IL17A
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 CCL2 CCL20 CCL3 TNF
5 response to virus GO:0009615 9.86 CXCL10 TNF TNFSF4
6 cytokine-mediated signaling pathway GO:0019221 9.86 CCL2 IL17RA IL1RAP IL6
7 cellular response to organic cyclic compound GO:0071407 9.82 CCL2 CCL3 TNF
8 positive regulation of inflammatory response GO:0050729 9.81 CCL3 IL17RA TNFSF4
9 regulation of receptor activity GO:0010469 9.81 AIMP1 CCL2 CCL20 CCL3 CXCL10 IL17A
10 cellular response to interferon-gamma GO:0071346 9.8 CCL2 CCL20 CCL3 CIITA
11 chemokine-mediated signaling pathway GO:0070098 9.8 CCL2 CCL20 CCL3 CCR6 CXCL10
12 chemotaxis GO:0006935 9.8 AIMP1 CCL2 CCL20 CCL3 CCR6 CXCL10
13 neutrophil chemotaxis GO:0030593 9.79 CCL2 CCL20 CCL3
14 positive regulation of T cell proliferation GO:0042102 9.78 IL2RA IL6 TNFSF4
15 cellular response to interleukin-1 GO:0071347 9.78 CCL2 CCL20 CCL3 IL17A
16 cell chemotaxis GO:0060326 9.77 CCL2 CCL20 CCL3 CCR6 CXCL10
17 humoral immune response GO:0006959 9.76 CCL2 CCR6 IL6 TNF
18 positive regulation of interleukin-6 production GO:0032755 9.75 IL6 TNF TNFSF4
19 protein kinase B signaling GO:0043491 9.74 CCL2 CCL3 TNF
20 monocyte chemotaxis GO:0002548 9.73 CCL2 CCL20 CCL3 IL6
21 cellular response to lipopolysaccharide GO:0071222 9.73 CCL2 CCL20 CXCL10 IL6 TNF TNFSF4
22 lipopolysaccharide-mediated signaling pathway GO:0031663 9.7 CCL2 CCL3 TNF
23 inflammatory response GO:0006954 9.7 AIMP1 CCL2 CCL20 CCL3 CIITA CXCL10
24 positive regulation of calcium ion import GO:0090280 9.68 CCL2 CCL3
25 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.68 IL17A IL17RA
26 negative regulation of collagen biosynthetic process GO:0032966 9.68 CIITA IL6
27 positive regulation of T cell migration GO:2000406 9.67 CCL20 CXCL10
28 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.67 CCL2 CCL20
29 macrophage chemotaxis GO:0048246 9.67 CCL2 CCL3
30 positive regulation of immunoglobulin secretion GO:0051024 9.65 IL6 TNFSF4
31 T cell chemotaxis GO:0010818 9.65 CCL3 CXCL10
32 negative regulation of lipid storage GO:0010888 9.64 IL6 TNF
33 positive regulation of interleukin-13 production GO:0032736 9.64 IL1RAP TNFSF4
34 T cell migration GO:0072678 9.63 CCL20 CCR6
35 cellular response to interleukin-17 GO:0097398 9.62 IL17A IL17RA
36 astrocyte cell migration GO:0043615 9.6 CCL2 CCL3
37 granulocyte chemotaxis GO:0071621 9.59 CCL3 IL17RA
38 positive regulation of interleukin-23 production GO:0032747 9.58 IL17A IL17RA
39 fibroblast activation GO:0072537 9.54 IL17A IL17RA
40 thymocyte migration GO:0072679 9.51 CCL20 CCR6
41 immune response GO:0006955 9.4 CCL2 CCL20 CCL3 CCR6 CIITA CXCL10
42 signal transduction GO:0007165 10.28 AIMP1 CCL2 CCL20 CCR6 CD69 CXCL10

Molecular functions related to Stromal Keratitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.55 CCL2 CXCL10 IL17RA LCN1 TNFSF4
2 cytokine activity GO:0005125 9.28 AIMP1 CCL2 CCL20 CCL3 CXCL10 IL17A
3 chemokine activity GO:0008009 9.26 CCL2 CCL20 CCL3 CXCL10

Sources for Stromal Keratitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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