MCID: CRV043
MIFTS: 55

Cervical Dystonia malady

Rare diseases, Neuronal diseases categories
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Summaries for Cervical Dystonia

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8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Cervical dystonia is a focal dystonia characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head. most commonly, the head turns to one side or the other. tilting sideways, or to the back or front may also occur. the turning or tilting movements may be accompanied by tremor and/or soreness of the muscles of the neck and shoulders. cervical dystonia can occur at any age, although most individuals first experience symptoms in middle age. it often begins slowly and usually reaches a plateau over a few months or years. treatment may include local intramuscular injections of botulinum toxin, analgesics, benzodiazepines (anti-anxiety medications), anticholinergics, physical therapy, or surgery. last updated: 11/9/2011

MalaCards: Cervical Dystonia, also known as spasmodic torticollis, is related to parkinson's disease and torsion dystonia. An important gene associated with Cervical Dystonia is DRD5 (dopamine receptor D5), and among its related pathways are Metabolism of nitric oxide and Folate biosynthesis. The compounds dihydroneopterin triphosphate and Sapropterin have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and testes, and related mouse phenotypes are endocrine/exocrine gland and behavior/neurological.

Disease Ontology:8 A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.

Wikipedia:65 Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to... more...

Aliases & Classifications for Cervical Dystonia

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8Disease Ontology, 43NIH Rare Diseases, 62UMLS, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

cervical dystonia 8 43
spasmodic torticollis 8 43
dystonia disorders 62


External Ids:

Disease Ontology8 DOID:0050840
ICD1025 G24, G24.3, G24.9

Related Diseases for Cervical Dystonia

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17GeneCards, 18GeneDecks
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Diseases in the Cervical Dystonia family:

Dystonia, Primary Cervical

Diseases related to Cervical Dystonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease30.5SPR, TH, GCH1, BDNF, APOE
2torsion dystonia30.5GCH1
3focal dystonia30.4DRD5
4dementia30.3BDNF, TH, APOE
5amyotrophic lateral sclerosis30.1BDNF, TH
6alzheimer's disease29.9APOE, BDNF, TH, HLA-DRB1
7multiple sclerosis29.9APOE, BDNF, HLA-DQB1, HLA-DQA1, HLA-DRB1
8cervicitis11.4
9dystonia11.4
10blepharospasm10.7
11blindness10.7
12tremor10.6
13essential tremor10.4
14ataxia10.4
15laryngitis10.3
16spinocerebellar ataxia10.3
17hemifacial spasm10.3
18huntington's disease10.3
19cerebritis10.3
20headache10.3
21dystonia 2410.3
22athetosis10.2
23torticollis, familial10.2
24focal, segmental or multifocal dystonia10.2
25benign paroxysmal torticollis of infancy10.2
26radiculopathy10.2
27cerebellar ataxia10.2
28myasthenia gravis10.2
29sandifer syndrome10.2
30dysphagia10.2
31combined cervical dystonia10.2
32tyrosine hydroxylase deficiency10.1TH
33phenylketonuria10.1GCH1, SPR
34narcolepsy10.1HLA-DRB1
35gtp cyclohydrolase i deficiency10.1TH, GCH1
36attention deficit hyperactivity disorder10.1BDNF, DRD5
37central hypoventilation syndrome, congenital, with or without hirschsprung disease10.1BDNF, TH
38neonatal hypoxic and ischemic brain injury10.1TH, BDNF
39bipolar disorder10.1BDNF, TH
40movement disease10.0GCH1, TH
41rett syndrome10.0BDNF, TH
42multiple sclerosis 110.0HLA-DQB1, HLA-DRB1
43progressive supranuclear palsy10.0TH, APOE
44lewy body dementia10.0APOE, TH
45hyperphenylalaninemia10.0GCH1, TH, SPR
46memory impairment10.0BDNF, APOE
47osteoporotic fracture10.0
48lateral sclerosis10.0
49bruxism10.0
50dentatorubral-pallidoluysian atrophy10.0

Graphical network of the top 20 diseases related to Cervical Dystonia:



Diseases related to cervical dystonia

Symptoms for Cervical Dystonia

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Drugs & Therapeutics for Cervical Dystonia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cervical Dystonia

Search NIH Clinical Center for Cervical Dystonia

Genetic Tests for Cervical Dystonia

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Anatomical Context for Cervical Dystonia

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33MalaCards
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MalaCards organs/tissues related to Cervical Dystonia:

33
Brain, Globus pallidus, Testes, Cortex, Subthalamic nucleus, Spinal cord, Heart, T cells, Cerebellum

Animal Models for Cervical Dystonia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cervical Dystonia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.9DRD5, APOE, HLA-DQB1, ATM, TH
2MP:00053867.2SPR, TH, ATM, HLA-DQB1, APOE, BDNF
3MP:00036317.1BDNF, SPR, TH, ATM, HLA-DQB1, APOE

Publications for Cervical Dystonia

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52PubMed
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Articles related to Cervical Dystonia:

(show top 50)    (show all 479)
idTitleAuthorsYear
1
Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia. (23724362)
2013
2
Chiropractic care using a functional neurologic approach for idiopathic cervical dystonia in a 59-year-old woman. (24294147)
2013
3
Structural brain abnormalities in cervical dystonia. (24131497)
2013
4
Association of the Val66Met polymorphism of the BDNF gene with primary cranial-cervical dystonia patients from South-west China. (23816543)
2013
5
Interhemispheric difference of pallidal local field potential activity in cervical dystonia. (23990682)
2013
6
Reduced parietal activation in cervical dystonia after parietal TMS interleaved with fMRI. (22386903)
2012
7
Survey of practices employed by neurologists for the definition and management of secondary non-response to botulinum toxin in cervical dystonia. (23597436)
2012
8
Clinical experience of dose conversion ratios between 2 botulinum toxin products in the treatment of cervical dystonia. (23123690)
2012
9
A loud auditory stimulus overcomes voluntary movement limitation in cervical dystonia. (23091598)
2012
10
Somatosensory temporal discrimination tested in patients receiving botulinum toxin injection for cervical dystonia. (21506155)
2011
11
Evolution of dose and response to botulinum toxin A in cervical dystonia: a multicenter study. (21197540)
2011
12
A prospective, randomized, double-blind study comparing the efficacy and safety of type a botulinum toxins botox and prosigne in the treatment of cervical dystonia. (19959960)
2010
13
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. (19473353)
2009
14
Cervical dystonia presenting as a phenocopy in an Irish SCA2 family. (19086087)
2009
15
Cervical dystonia: clinical and therapeutic features in 85 patients. (18392407)
2008
16
Neuronal firing rates and patterns in the globus pallidus internus of patients with cervical dystonia differ from those with Parkinson's disease. (17537900)
2007
17
Various patterns of gestes antagonistes in cervical dystonia. (17355914)
2007
18
Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. (17442609)
2007
19
Botulinum toxin therapy for cervical dystonia. (16785112)
2006
20
Secondary nonresponsiveness to botulinum toxin A in cervical dystonia: the role of electromyogram-guided injections, botulinum toxin A antibody assay, and the extensor digitorum brevis test. (16874756)
2006
21
CDIP-58 can measure the impact of botulinum toxin treatment in cervical dystonia. (17190951)
2006
22
The safety and tolerability of botulinum toxins for the treatment of cervical dystonia. (15794717)
2005
23
Longitudinal assessment of the dose consistency of botulinum toxin type A (BOTOX) for cervical dystonia. (15943222)
2005
24
Long-term botulinum toxin treatment increases employment rate in patients with cervical dystonia. (16114026)
2005
25
Long-term safety, efficacy, dosing, and development of resistance with botulinum toxin type B in cervical dystonia. (15455449)
2005
26
Natural history of posttraumatic cervical dystonia. (15390063)
2004
27
Pallidal deep brain stimulation in cervical dystonia: clinical outcome in four cases. (15376476)
2004
28
Cervical dystonia as first manifestation of multiple sclerosis. (15592741)
2004
29
Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. (14598070)
2003
30
Abnormalities of cortical excitability and cortical inhibition in cervical dystonia Evidence from somatosensory evoked potentials and paired transcranial magnetic stimulation recordings. (12527991)
2003
31
Diminished striatal [123I]iodobenzovesamicol binding in idiopathic cervical dystonia. (12666122)
2003
32
Treatment of cervical dystonia by olanzapine. (12766936)
2003
33
Cervical dystonia in dentatorubral-pallidoluysian atrophy. (12956864)
2003
34
Impaired sensorimotor integration in cervical dystonia: a study using transcranial magnetic stimulation and muscle vibration. (12226568)
2002
35
Neutralizing botulinum toxin type a antibodies: clinical observations in patients with cervical dystonia. (12396862)
2001
36
Prospective study of selective peripheral denervation for botulinum-toxin resistant patients with cervical dystonia. (11287376)
2001
37
Cervical dystonia pathophysiology and treatment options. (11708764)
2001
38
Head tremor in cervical dystonia. (10830347)
2000
39
Sensory tricks in cervical dystonia: perceptual dysbalance of parietal cortex modulates frontal motor programming. (10716251)
2000
40
Intramuscular phenol injection for severe cervical dystonia. (10751122)
2000
41
Posturographic findings in patients with idiopathic cervical dystonia before and after local injections with botulinum toxin. (10343149)
1999
42
A pilot trial of clozapine in the treatment of cervical dystonia. (9669485)
1998
43
Treatment of cervical dystonia: a comparison of measures for outcome assessment. (9686779)
1998
44
Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. (9342206)
1997
45
Treatment of putative immune-mediated and idiopathic cervical dystonia with intravenous methylprednisolone. (9065556)
1997
46
Physiological study of cervical dystonia. Task-specific abnormality in contingent negative variation. (7735891)
1995
47
Treatment with botulinum toxin injections does not change brainstem interneuronal excitability in patients with cervical dystonia. (9316668)
1994
48
Efficacy of botulinum toxin for cervical dystonia. A comparison of methods for evaluation. (7878393)
1994
49
Quantitative electromyographic analysis of changes in muscle activity following botulinum toxin therapy for cervical dystonia. (8504437)
1993
50
Brachial plexopathy after Botulinum toxin administration for cervical dystonia. (8382272)
1993

Variations for Cervical Dystonia

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Expression for genes affiliated with Cervical Dystonia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cervical Dystonia

Search GEO for disease gene expression data for Cervical Dystonia.

Pathways for genes affiliated with Cervical Dystonia

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 57SinoBiological, 54R&D Systems, 60Thomson Reuters, 53QIAGEN
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Pathways related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GCH1, SPR
29.9GCH1, SPR
3
Show member pathways
9.3HLA-DQB1, HLA-DQA1, BDNF
49.2HLA-DRB1, HLA-DQA1, HLA-DQB1
5
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
69.2HLA-DRB1, HLA-DQA1, HLA-DQB1
7
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
8
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
9
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
10
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
11
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
12
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
13
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
149.2HLA-DQB1, HLA-DQA1, HLA-DRB1
15
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
169.2HLA-DRB1, HLA-DQA1, HLA-DQB1
17
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
18
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
199.2HLA-DRB1, HLA-DQA1, HLA-DQB1
209.2HLA-DQB1, HLA-DQA1, HLA-DRB1
21
Show member pathways
9.2HLA-DQB1, HLA-DQA1, HLA-DRB1
22
Show member pathways
9.2HLA-DRB1, HLA-DQA1, HLA-DQB1
239.2HLA-DRB1, HLA-DQA1, HLA-DQB1
24
Show member pathways
8.8HLA-DQB1, HLA-DQA1, HLA-DRB1, BDNF
258.6ATM, HLA-DQB1, HLA-DQA1, HLA-DRB1
26
Show member pathways
8.4BDNF, HLA-DRB1, HLA-DQA1, HLA-DQB1, TH

Compounds for genes affiliated with Cervical Dystonia

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Sources:
45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Cervical Dystonia according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1dihydroneopterin triphosphate45 2411.2SPR, GCH1
2Sapropterin2410.1SPR, TH
34a-hydroxytetrahydrobiopterin45 2411.1GCH1, TH
4methylphenidate45 51 1112.0DRD5, TH
5pterin45 2411.0TH, SPR
6dpa 14510.0HLA-DQA1, HLA-DRB1
73-nitropropionic acid4510.0BDNF, TH
8dopac4510.0TH, BDNF
9mhpg459.9BDNF, TH
10maoa459.9BDNF, TH
11melatonin45 29 61 24 1113.9BDNF, GCH1, SPR
12glatiramer acetate45 1110.9BDNF, HLA-DRB1
136-pyruvoyltetrahydropterin459.9TH, SPR, GCH1
14dihydropteridine45 2410.9GCH1, TH, SPR
15dihydrobiopterin45 2410.9GCH1, TH, SPR
16pteridine459.9SPR, GCH1, TH
17sepiapterin45 2410.9SPR, GCH1, TH
18tetrahydrobiopterin45 24 1111.8TH, GCH1, SPR
19ketanserin45 2910.8BDNF, DRD5
20homovanillic acid45 2410.8TH, BDNF
21pramipexole45 29 51 1112.8TH, DRD5, BDNF
22amino acid459.8HLA-DRB1, BDNF
23quetiapine45 51 29 24 1113.8TH, DRD5, BDNF
241 methyl 4 phenylpyridinium459.8TH, BDNF
25clozapine45 29 51 1112.7DRD5, TH, BDNF
26mptp459.7TH, BDNF, GCH1
27haloperidol45 51 29 3 1113.7TH, DRD5, BDNF
28lapatinib45 51 1111.7HLA-DRB1, HLA-DQA1
29selegiline45 1110.5BDNF, TH
30cdp choline459.5APOE, TH
31cysteamine45 24 1111.5BDNF, APOE
32levodopa45 1110.5BDNF, DRD5, TH, GCH1
33catecholamine459.5BDNF, GCH1, DRD5, TH
34phenylalanine459.5GCH1, SPR, TH, BDNF
35olanzapine45 51 29 24 1113.4APOE, DRD5, BDNF
36l-amino acid459.4TH, GCH1
37epinephrine45 24 1111.3GCH1, TH, BDNF
38tetrodotoxin45 61 2911.2TH, BDNF, APOE
39norepinephrine45 24 1111.2GCH1, DRD5, TH, SPR, BDNF
40kainate45 2910.2APOE, TH, BDNF
41ibmx45 61 2911.1BDNF, APOE, TH
42valine459.0APOE, BDNF, HLA-DRB1
43h2o2458.7TH, APOE, GCH1, BDNF
44paraffin458.6ATM, TH, APOE, HLA-DQA1
45glutamine458.5APOE, HLA-DQB1, ATM, TH
46aspartate458.5APOE, HLA-DQA1, HLA-DQB1, TH, BDNF
47dopamine45 29 24 1111.4TH, BDNF, GCH1, DRD5, APOE, SPR
48glutamate458.3HLA-DQB1, HLA-DRB1, TH, APOE, BDNF
49estrogen458.2BDNF, ATM, TH, GCH1, APOE
50tyrosine457.7BDNF, GCH1, DRD5, HLA-DRB1, HLA-DQB1, ATM

GO Terms for genes affiliated with Cervical Dystonia

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Sources:
16Gene Ontology
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Cellular components related to Cervical Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.4HLA-DRB1, HLA-DQA1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.3HLA-DRB1, HLA-DQA1, HLA-DQB1
3clathrin-coated endocytic vesicle membraneGO:0306699.3HLA-DQB1, HLA-DQA1, HLA-DRB1
4transport vesicle membraneGO:0306589.3HLA-DRB1, HLA-DQA1, HLA-DQB1
5ER to Golgi transport vesicle membraneGO:0125079.2HLA-DQB1, HLA-DQA1, HLA-DRB1
6lysosomal membraneGO:0057659.2HLA-DRB1, HLA-DQA1, HLA-DQB1
7trans-Golgi network membraneGO:0325889.1HLA-DRB1, HLA-DQA1, HLA-DQB1
8endocytic vesicle membraneGO:0306668.9HLA-DQB1, HLA-DQA1, HLA-DRB1

Biological processes related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin biosynthetic processGO:00672910.2GCH1, SPR
2nitric oxide biosynthetic processGO:00680910.1SPR, GCH1
3regulation of nitric-oxide synthase activityGO:05099910.0GCH1, SPR
4synaptic transmission, dopaminergicGO:00196310.0DRD5, TH
5nitric oxide metabolic processGO:04620910.0SPR, GCH1
6dopamine biosynthetic processGO:04241610.0TH, GCH1
7negative regulation of blood pressureGO:04577610.0DRD5, GCH1
8immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.9HLA-DQB1, HLA-DRB1
9humoral immune response mediated by circulating immunoglobulinGO:0024559.8HLA-DQB1, HLA-DRB1
10response to amphetamineGO:0019759.8TH, DRD5
11positive regulation of nitric-oxide synthase activityGO:0510009.6GCH1, APOE
12interferon-gamma-mediated signaling pathwayGO:0603339.5HLA-DRB1, HLA-DQB1, HLA-DQA1
13vasodilationGO:0423119.5APOE, GCH1
14T cell costimulationGO:0312959.5HLA-DRB1, HLA-DQB1, HLA-DQA1
15T cell receptor signaling pathwayGO:0508529.5HLA-DRB1, HLA-DQA1, HLA-DQB1
16antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.5HLA-DQA1, HLA-DRB1, HLA-DQB1
17lipoprotein catabolic processGO:0421599.4ATM, APOE
18response to hypoxiaGO:0016669.2BDNF, TH, ATM
19immune responseGO:0069559.2HLA-DQA1, HLA-DQB1, HLA-DRB1
20cytokine-mediated signaling pathwayGO:0192219.1HLA-DRB1, HLA-DQA1, HLA-DQB1
21cellular response to growth factor stimulusGO:0713638.9APOE, TH

Molecular functions related to Cervical Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.8DRD5, TH
2MHC class II receptor activityGO:0323958.9HLA-DRB1, HLA-DQA1, HLA-DQB1

Products for genes affiliated with Cervical Dystonia

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  • Antibodies
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Sources for Cervical Dystonia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet