HSE
MCID: HRP009
MIFTS: 50

Herpes Simplex Encephalitis (HSE)

Categories: Blood diseases, Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Herpes Simplex Encephalitis

MalaCards integrated aliases for Herpes Simplex Encephalitis:

Name: Herpes Simplex Encephalitis 52
Herpes Simplex Meningo-Encephalitis 52 58
Herpes Simplex Virus Encephalitis 52 58
Herpes Simplex Neuroinvasion 52 58
Herpetic Encephalitis 52 58
Hsv Encephalitis 52 58
Hsve 52 58
Hse 52 58
Herpes Simplex Virus 1 Encephalitis 71
Herpes Encephalitis 71

Characteristics:

Orphanet epidemiological data:

58
herpes simplex virus encephalitis
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United Kingdom),1-9/1000000 (United States); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare immunological diseases
Rare infectious diseases


External Ids:

ICD10 via Orphanet 33 B00.4+ G05.1*
UMLS via Orphanet 72 C0019385 C0276226
Orphanet 58 ORPHA1930
UMLS 71 C0276226 C3648852

Summaries for Herpes Simplex Encephalitis

NIH Rare Diseases : 52 Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures ; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or even death may occur. Herpes simplex encephalitis is caused by a virus called the herpes simplex virus. Most cases are associated with herpes simplex virus type I (the cause of cold sores or fever blisters), although rare cases can be caused by herpes simplex virus type II (genital herpes). It is poorly understood why some people who are infected with herpes simplex virus develop herpes simplex encephalitis while others do not. Changes (mutations ) in genes such as TLR3 and TRAF3 have been observed suggesting there may be a genetic component in some cases. Treatment consists of antiviral therapy.

MalaCards based summary : Herpes Simplex Encephalitis, also known as herpes simplex meningo-encephalitis, is related to encephalitis and viral encephalitis. An important gene associated with Herpes Simplex Encephalitis is UNC93B1 (Unc-93 Homolog B1, TLR Signaling Regulator), and among its related pathways/superpathways are Innate Immune System and Activated TLR4 signalling. The drugs Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and t cells, and related phenotypes are seizures and hyperreflexia

Related Diseases for Herpes Simplex Encephalitis

Diseases related to Herpes Simplex Encephalitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 313)
# Related Disease Score Top Affiliating Genes
1 encephalitis 31.5 UNC93B1 TRAF3 TLR3 TICAM1 IRF3
2 viral encephalitis 31.4 UNC93B1 TLR3
3 herpes simplex 31.0 UNC93B1 TRAF3 TLR3 TICAM1 TBK1 IRF3
4 tick-borne encephalitis 30.1 TLR3 CXCL11
5 viral infectious disease 29.7 TLR3 TBK1 IRF3
6 multiple sclerosis 28.6 TLR3 IL2RB CXCL11 APOE
7 encephalopathy, acute, infection-induced 2 12.6
8 encephalopathy, acute, infection-induced 1 12.6
9 encephalopathy, acute, infection-induced 5 12.3
10 hemorrhagic shock and encephalopathy syndrome 12.2
11 encephalopathy, acute, infection-induced 6 12.2
12 encephalopathy, acute, infection-induced 7 12.2
13 encephalopathy, acute, infection-induced 8 12.1
14 immunodeficiency 31a 11.8
15 febrile infection-related epilepsy syndrome 11.6
16 ocular motor apraxia 10.7
17 neonatal herpes 10.7
18 aphasia 10.6
19 kluver-bucy syndrome 10.6
20 meningoencephalitis 10.6
21 amnestic disorder 10.6
22 encephalopathy 10.6
23 status epilepticus 10.5
24 neuroretinitis 10.5
25 retinitis 10.5
26 movement disease 10.5
27 japanese encephalitis 10.4
28 glioma 10.4
29 glial tumor 10.4
30 acute necrotizing encephalitis 10.4
31 glioblastoma multiforme 10.4
32 brain edema 10.4
33 meningitis 10.4
34 asymptomatic neurosyphilis 10.3
35 visual epilepsy 10.3
36 cerebritis 10.3
37 chickenpox 10.3
38 autoimmune encephalitis 10.3
39 neurosyphilis 10.3
40 tuberculous meningitis 10.3
41 seizure disorder 10.3
42 rare surgical neurologic disease 10.3
43 influenza 10.3
44 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
45 chorea, childhood-onset, with psychomotor retardation 10.3
46 choreatic disease 10.3
47 papilledema 10.3
48 encephalomalacia 10.3
49 retrograde amnesia 10.3
50 subacute delirium 10.3

Graphical network of the top 20 diseases related to Herpes Simplex Encephalitis:



Diseases related to Herpes Simplex Encephalitis

Symptoms & Phenotypes for Herpes Simplex Encephalitis

Human phenotypes related to Herpes Simplex Encephalitis:

58 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 Frequent (79-30%)
2 hyperreflexia 58 Occasional (29-5%)
3 nausea and vomiting 58 Frequent (79-30%)
4 neurological speech impairment 58 Frequent (79-30%)
5 eeg abnormality 58 Very frequent (99-80%)
6 reduced consciousness/confusion 58 Very frequent (99-80%)
7 respiratory failure requiring assisted ventilation 58 Frequent (79-30%)
8 fatigue 58 Frequent (79-30%)
9 fever 58 Frequent (79-30%)
10 immunodeficiency 58 Occasional (29-5%)
11 focal impaired awareness seizure 58 Occasional (29-5%)
12 status epilepticus 58 Occasional (29-5%)
13 headache 58 Frequent (79-30%)
14 coma 58 Occasional (29-5%)
15 leukocytosis 58 Frequent (79-30%)
16 hyponatremia 58 Frequent (79-30%)
17 elevated c-reactive protein level 58 Occasional (29-5%)
18 cerebral edema 58 Occasional (29-5%)
19 hypoglycorrhachia 58 Occasional (29-5%)
20 excessive daytime somnolence 58 Occasional (29-5%)
21 increased csf protein 58 Frequent (79-30%)
22 chills 58 Occasional (29-5%)
23 functional motor deficit 58 Occasional (29-5%)
24 abnormality of brain morphology 58 Very frequent (99-80%)
25 loss of consciousness 58 Frequent (79-30%)
26 csf lymphocytic pleiocytosis 58 Very frequent (99-80%)
27 neutrophilia 58 Frequent (79-30%)
28 nuchal rigidity 58 Frequent (79-30%)
29 focal aware seizure 58 Occasional (29-5%)
30 alcoholism 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Herpes Simplex Encephalitis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 APOE ELANE IL2RB IRF3 TBK1 TICAM1
2 immune system MP:0005387 9.61 APOE ELANE IL2RB IRF3 TBK1 TICAM1
3 liver/biliary system MP:0005370 9.1 APOE IL2RB TBK1 TICAM1 TRAF3 UNC93B1

Drugs & Therapeutics for Herpes Simplex Encephalitis

Drugs for Herpes Simplex Encephalitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
9 Antiemetics Phase 4
10 Gastrointestinal Agents Phase 4
11 Autonomic Agents Phase 4
12 BB 1101 Phase 4
13 Hormone Antagonists Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16 glucocorticoids Phase 4
17 Hormones Phase 4
18 Methylprednisolone Acetate Phase 4
19 Neuroprotective Agents Phase 4
20 Protective Agents Phase 4
21
Acyclovir Approved Phase 3 59277-89-3 2022
22
Loperamide Approved Phase 3 53179-11-6 3955
23 Antiviral Agents Phase 3
24 valacyclovir Phase 3
25 Anti-Infective Agents Phase 3
26 Antidiarrheals Phase 3
27 Antisecretory factor Phase 3
28 HIV Protease Inhibitors Phase 3
29
protease inhibitors Phase 3
30 Antibodies
31 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Dose Versus High Dose Steroids in Treatment of Viral Encephalitis Not yet recruiting NCT04103684 Phase 4 Methylprednisolone;Dexamethasone
2 A Phase III Double-Blind, Placebo-Controlled Trial of Long Term Therapy of Herpes Simplex Encephalitis (HSE): An Evaluation of Valacyclovir (CASG-204) Completed NCT00031486 Phase 3 Valacyclovir;Placebo
3 Salovum (Antisecretory Factor) in Patients With Severe Traumatic Brain Injury Recruiting NCT03339505 Phase 3
4 Dexamethasone in Herpes Simplex Virus Encephalitis Open Label Randomized Controlled Trial With an Observer-blinded Evaluation at 6 Months Not yet recruiting NCT03084783 Phase 3 Dexamethasone
5 Evaluation of Antisecretory Factor in Treatment of Severe Traumatic Brain Injury With Multimodal Monitoring Not yet recruiting NCT04117672 Phase 2
6 Evaluation of Specific PET Radioligand Binding To Translocator Protein Completed NCT02181582 Phase 1 Emapunil
7 The Association Between Herpes Simplex Viruses (Type One and Two) and Autism Spectrum Disorders Unknown status NCT03180112
8 Management of Acute Disseminated Encephalomyelitis in Neurology Unit of Assiut University Children Hospital Unknown status NCT03284801
9 The Natural History of Severe Viral Infections and Characterization of Immune Defects Recruiting NCT01011712
10 Swiss Trial of Decompressive Craniectomy Versus Best Medical Treatment of Spontaneous Supratentorial Intracerebral Hemorrhage (SWITCH): a Randomized Controlled Trial Recruiting NCT02258919

Search NIH Clinical Center for Herpes Simplex Encephalitis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Acyclovir
Acyclovir Sodium

Genetic Tests for Herpes Simplex Encephalitis

Anatomical Context for Herpes Simplex Encephalitis

MalaCards organs/tissues related to Herpes Simplex Encephalitis:

40
Brain, Temporal Lobe, T Cells, Testes, Eye, Lung, B Cells

Publications for Herpes Simplex Encephalitis

Articles related to Herpes Simplex Encephalitis:

(show top 50) (show all 1621)
# Title Authors PMID Year
1
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. 61 6
26513235 2015
2
Functional IRF3 deficiency in a patient with herpes simplex encephalitis. 61 6
26216125 2015
3
TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk. 61 6
25339207 2014
4
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. 61 6
22105173 2011
5
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. 61 6
20832341 2010
6
TLR3 deficiency in patients with herpes simplex encephalitis. 61 6
17872438 2007
7
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. 6
21911422 2011
8
Herpes simplex virus encephalitis in human UNC-93B deficiency. 6
16973841 2006
9
Herpes Simplex Virus 1-Induced Blood-Brain Barrier Damage Involves Apoptosis Associated With GM130-Mediated Golgi Stress. 61
32038167 2020
10
β-Arrestin 2 protects against neurological function defects in HSV-1-induced encephalitis mice. 61
31469177 2020
11
Herpes simplex encephalitis in adult patients with MASP-2 deficiency. 61
31869396 2019
12
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis. 61
31806906 2019
13
Transient naming deficits associated with insular lesions in a patient with encephalitis. 61
31532322 2019
14
Herpes Simplex Virus Encephalitis: Patterns of Epidemiology and Outcomes of Patients Admitted to the Intensive Care Unit in Texas, 2008 - 2016. 61
31803321 2019
15
Toll-like receptor 3 deficiency in autoimmune encephalitis post-herpes simplex encephalitis. 61
31488627 2019
16
An update on anti-NMDA receptor encephalitis for neurologists and psychiatrists: mechanisms and models. 61
31326280 2019
17
Role of 3D Pseudocontinuous Arterial Spin-Labeling Perfusion in the Diagnosis and Follow-Up in Patients with Herpes Simplex Encephalitis. 61
31649156 2019
18
Multiphasic disseminated encephalomyelitis associated with herpes virus infection in a patient with TLR3 deficiency. 61
31479858 2019
19
Roles of HSV-1 infection-induced microglial immune responses in CNS diseases: friends or foes? 61
31512533 2019
20
Herpes Simplex Encephalitis Initially Erroneously Diagnosed as Glioma of the Cerebellum: Case Report and Literature Review. 61
31254700 2019
21
Herpes Simplex Encephalitis Shortly After Surgery for a Secondary Glioblastoma: A Case Report and Review of the Literature. 61
31150854 2019
22
Correction to: Functional outcomes in adult patients with herpes simplex encephalitis admitted to the ICU: a multicenter cohort study. 61
31346675 2019
23
Haloperidol discontinuation in a herpes simplex encephalitis patient with atypical abnormal movements using the herbal medicine Ukgansan-gami: A Case Report. 61
31542303 2019
24
[Recent progress in autoimmune encephalitis and its related disorders]. 61
31341132 2019
25
Fulminant bilateral acute retinal necrosis complicated with secondary herpes simplex type-1 viral encephalitis: A case report. 61
31464954 2019
26
Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis. 61
30961960 2019
27
Functional outcomes in adult patients with herpes simplex encephalitis admitted to the ICU: a multicenter cohort study. 61
31292686 2019
28
HSV-1 encephalitis relapse after epilepsy surgery: a case report and review of the literature. 61
31468470 2019
29
Herpes simplex reactivation following neurosurgery: case report and review of the literature. 61
31370030 2019
30
Proteomics analysis of HSV-1-induced alterations in mouse brain microvascular endothelial cells. 61
31144288 2019
31
Acute retinal necrosis following herpes simplex encephalitis: a nationwide survey in Japan. 61
31054049 2019
32
Cerebral venous thrombosis: a rare complication of herpes simplex encephalitis. 61
31278537 2019
33
Bilateral independent periodic lateralised epileptiform discharges at presentation followed by rapid recovery: novel observations from a case of Epstein-Barr virus encephalitis. 61
31326904 2019
34
Severe presentation of antibody-negative, postinfectious steroid-responsive encephalitis and atonic bladder after herpes simplex encephalitis. 61
31337628 2019
35
Outcomes with acyclovir treatment in herpes simplex encephalitis after surgery for solid CNS tumors: a case report and systematic review of the literature. 61
31386089 2019
36
The Role of Physical Examinations in Psychiatry as Illustrated in a Case of Neuroleptic Malignant Syndrome Versus Viral Encephalitis: A Case Report and Literature Review. 61
31410323 2019
37
Adult onset MELAS Syndrome Presenting as A Mimic of Herpes Simplex Encephalitis. 61
31867706 2019
38
A case of fulminant Epstein-Barr virus encephalitis in an immune-competent adult. 61
30671776 2019
39
C1Q/TNF-related protein 4 expression correlates with herpes simplex encephalitis progression. 61
31317005 2019
40
Mechanisms of Blood-Brain Barrier Disruption in Herpes Simplex Encephalitis. 61
30456443 2019
41
Immune-mediated encephalitis for the infectious disease specialist. 61
31021956 2019
42
An Adult Case of Herpes Simplex Virus-associated Granulomatous Encephalitis. 61
30626834 2019
43
Bacteroides fragilis polysaccharide A induces IL-10 secreting B and T cells that prevent viral encephalitis. 61
31089128 2019
44
Amentoflavone Inhibits HSV-1 and ACV-Resistant Strain Infection by Suppressing Viral Early Infection. 61
31121928 2019
45
Acute retinal necrosis in a patient with remote severe herpes simplex encephalitis. 61
31138593 2019
46
UNC93B1 promotes tumoral growth by controlling the secretion level of granulocyte macrophage colony-stimulating factor in human oral cancer. 61
30935694 2019
47
Efficacy of acyclovir for herpes simplex encephalitis: A protocol for a systematic review of randomized controlled trial. 61
30985731 2019
48
Suspected Herpes Simplex Encephalitis with Low Copy Number DNA. 61
30607771 2019
49
Mouse model of anti-NMDA receptor post-herpes simplex encephalitis. 61
30697582 2019
50
Rel-Dependent Immune and Central Nervous System Mechanisms Control Viral Replication and Inflammation during Mouse Herpes Simplex Encephalitis. 61
30683700 2019

Variations for Herpes Simplex Encephalitis

Expression for Herpes Simplex Encephalitis

Search GEO for disease gene expression data for Herpes Simplex Encephalitis.

Pathways for Herpes Simplex Encephalitis

Pathways related to Herpes Simplex Encephalitis according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 UNC93B1 TRAF3 TLR3 TICAM1 TBK1 IRF3
2
Show member pathways
13.31 UNC93B1 TRAF3 TLR3 TICAM1 TBK1 IRF3
3
Show member pathways
12.73 TRAF3 TLR3 TICAM1 TBK1 IRF3 CXCL11
4
Show member pathways
12.67 TRAF3 TLR3 TICAM1 TBK1 IRF3
5
Show member pathways
12.57 TRAF3 TLR3 TICAM1 TBK1 IRF3 IL2RB
6 12.52 TRAF3 TLR3 TICAM1 TBK1 IRF3
7
Show member pathways
12.47 TRAF3 TLR3 TICAM1 TBK1 IRF3
8
Show member pathways
12.34 TRAF3 TLR3 TICAM1 TBK1 IRF3 IL2RB
9
Show member pathways
12.17 TLR3 TICAM1 TBK1 IRF3
10
Show member pathways
12.17 TLR3 TICAM1 TBK1 IRF3
11
Show member pathways
12.03 TLR3 TICAM1 IRF3
12 11.93 TRAF3 TICAM1 TBK1 IRF3
13 11.77 TICAM1 TBK1 IRF3
14
Show member pathways
11.63 TRAF3 TLR3 TICAM1 TBK1 IRF3
15 11.61 TRAF3 TLR3 TICAM1 TBK1 IRF3 IL2RB
16 10.92 TLR3 TICAM1

GO Terms for Herpes Simplex Encephalitis

Cellular components related to Herpes Simplex Encephalitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 9.13 TLR3 TICAM1 TBK1
2 endosome GO:0005768 8.92 UNC93B1 TRAF3 TLR3 IL2RB

Biological processes related to Herpes Simplex Encephalitis according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.91 TICAM1 TBK1 IRF3 IL2RB
2 inflammatory response GO:0006954 9.88 TLR3 TICAM1 TBK1 CXCL11
3 immune system process GO:0002376 9.88 UNC93B1 TRAF3 TLR3 TICAM1 TBK1 IRF3
4 innate immune response GO:0045087 9.85 UNC93B1 TRAF3 TLR3 TICAM1 TBK1 IRF3
5 regulation of gene expression GO:0010468 9.81 TBK1 IRF3 APOE
6 cellular response to lipopolysaccharide GO:0071222 9.8 TICAM1 IRF3 CXCL11
7 response to lipopolysaccharide GO:0032496 9.79 TICAM1 IRF3 ELANE
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 TLR3 TICAM1 TBK1 IRF3
9 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.69 TLR3 TICAM1 TBK1
10 toll-like receptor signaling pathway GO:0002224 9.67 UNC93B1 TRAF3 TLR3
11 defense response to virus GO:0051607 9.65 UNC93B1 TLR3 TICAM1 TBK1 IRF3
12 positive regulation of tumor necrosis factor production GO:0032760 9.64 TLR3 TICAM1
13 lipopolysaccharide-mediated signaling pathway GO:0031663 9.63 TICAM1 IRF3
14 negative regulation of type I interferon production GO:0032480 9.63 TBK1 IRF3
15 response to exogenous dsRNA GO:0043330 9.63 TLR3 TICAM1 IRF3
16 necroptotic process GO:0070266 9.61 TLR3 TICAM1
17 positive regulation of interferon-beta production GO:0032728 9.61 TLR3 TBK1 IRF3
18 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.6 TLR3 TICAM1
19 cellular response to exogenous dsRNA GO:0071360 9.59 TLR3 IRF3
20 regulation of protein complex assembly GO:0043254 9.58 TICAM1 APOE
21 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.57 TBK1 IRF3
22 regulation of type I interferon production GO:0032479 9.56 TBK1 IRF3
23 positive regulation of interferon-alpha production GO:0032727 9.55 TBK1 IRF3
24 positive regulation of chemokine biosynthetic process GO:0045080 9.54 TLR3 TICAM1
25 negative regulation of MyD88-independent toll-like receptor signaling pathway GO:0034128 9.52 TLR3 TICAM1
26 toll-like receptor 3 signaling pathway GO:0034138 9.5 UNC93B1 TLR3 TICAM1
27 positive regulation of type I interferon production GO:0032481 9.46 TLR3 TICAM1 TBK1 IRF3
28 positive regulation of interferon-beta biosynthetic process GO:0045359 9.13 TLR3 TICAM1 TBK1
29 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.02 TRAF3 TLR3 TICAM1 TBK1 IRF3

Molecular functions related to Herpes Simplex Encephalitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.8 ELANE CXCL11 APOE

Sources for Herpes Simplex Encephalitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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