Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia 50 28

Summaries for Hypertonia

NINDS : 50 Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move.  Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged.  This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy. Hypertonia often limits how easily the joints can move.  If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance.  If hypertonia is severe, it can cause a joint to become "frozen," which doctors call a joint contracture. Spasticity is a term that is often used interchangeably with hypertonia.  Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement.  In this type, patients usually have exaggerated reflex responses. Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement.  Rigidity  usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain).  To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions.

MalaCards based summary : Hypertonia is related to muscular hypertonia, lethal and spasticity. An important gene associated with Hypertonia is TSEN54 (TRNA Splicing Endonuclease Subunit 54). The drugs Acetylcholine and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes.

Wikipedia : 72 Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature... more...

Related Diseases for Hypertonia

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 muscular hypertonia, lethal 12.0
2 spasticity 11.2
3 hyperekplexia 11.1
4 hypotonia 11.1
5 pontocerebellar hypoplasia, type 4 10.9
6 spastic paraplegia 47, autosomal recessive 10.8
7 spastic paraplegia 52, autosomal recessive 10.8
8 glycine encephalopathy with normal serum glycine 10.8
9 hydroxykynureninuria 10.8
10 phosphoserine aminotransferase deficiency 10.8
11 spastic paraplegia 50, autosomal recessive 10.8
12 lissencephaly 2 10.7
13 d-bifunctional protein deficiency 10.7
14 floppy infant syndrome 10.7
15 hyperphenylalaninemia, bh4-deficient, c 10.7
16 keppen-lubinsky syndrome 10.7
17 hyperphenylalaninemia, bh4-deficient, a 10.7
18 hyperekplexia 3 10.7
19 lissencephaly 10.7
20 peroxisomal acyl-coa oxidase deficiency 10.7
21 dyskinetic cerebral palsy 10.7
22 infantile hypotonia 10.7
23 cold-induced sweating syndrome 1 10.7
24 epileptic encephalopathy, early infantile, 21 10.7
25 hyperekplexia, hereditary 1 10.7
26 dihydropyrimidine dehydrogenase deficiency 10.7
27 mitochondrial complex iii deficiency, nuclear type 8 10.7
28 hydranencephaly 10.7
29 weaver syndrome 10.7
30 epileptic encephalopathy, early infantile, 25 10.7
31 chromosome 9p deletion syndrome 10.7
32 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.7
33 combined oxidative phosphorylation deficiency 21 10.7
34 mental retardation, autosomal dominant 42 10.7
35 myoglobinuria, recurrent 10.7
36 3-methylglutaconic aciduria, type viii 10.7
37 seizures, benign familial infantile, 1 10.7
38 spastic diplegia 10.7
39 pontocerebellar hypoplasia, type 1a 10.7
40 neurodevelopmental disorder with or without seizures and gait abnormalities 10.7
41 krabbe disease 10.7
42 hereditary methemoglobinemia 10.7
43 spastic paraplegia 51, autosomal recessive 10.7
44 mental retardation smith fineman myers type 10.7
45 cerebritis 10.2
46 brain injury 10.2
47 cerebral palsy 10.1
48 dystonia 10.0
49 spinal cord injury 10.0
50 anus disease 10.0

Graphical network of the top 20 diseases related to Hypertonia:



Diseases related to Hypertonia

Symptoms & Phenotypes for Hypertonia

Drugs & Therapeutics for Hypertonia

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

(show top 50) (show all 195)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
2
Ethanol Approved Phase 4,Phase 3 64-17-5 702
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1 1134-47-0 2284
5
Memantine Approved, Investigational Phase 4 19982-08-2 4054
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Misoprostol Approved Phase 4,Phase 3 59122-46-2 5282381
8
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 1972-08-3 16078 2978
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Tizanidine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 51322-75-9 5487
13
Dinoprostone Approved Phase 4,Phase 3 363-24-6 5280360
14 Peppermint oil Approved, Investigational Phase 4,Phase 3
15
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
16
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
17
Peppermint Approved, Nutraceutical Phase 4,Phase 3
18 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
19 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Phase 1
20 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
23 Neuromuscular Blocking Agents Phase 4
24 Neuromuscular Nondepolarizing Agents Phase 4
25 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
26 onabotulinumtoxinA Phase 4,Phase 3,Phase 2,Phase 1
27 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
28 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
29 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
30 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Phase 1
31 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
32 rimabotulinumtoxinB Phase 4,Phase 1,Phase 2
33 Adrenergic Agents Phase 4,Phase 3,Phase 1,Phase 2
34 Adrenergic Agonists Phase 4,Phase 3,Phase 1,Phase 2
35 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 1,Phase 2
36 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1,Phase 2
37 Narcotics Phase 4
38 Analgesics, Opioid Phase 4
39 Anesthetics Phase 4,Phase 3
40 Anesthetics, Dissociative Phase 4
41 Anesthetics, General Phase 4
42 Anesthetics, Intravenous Phase 4
43 Oxytocics Phase 4,Phase 3
44 Parasympatholytics Phase 4,Phase 3,Phase 1,Phase 2
45 Antacids Phase 4,Phase 3
46 Dopamine Agents Phase 4
47 Hypnotics and Sedatives Phase 4
48 Anticonvulsants Phase 4,Phase 3,Phase 1,Phase 2
49 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
50 Excitatory Amino Acid Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 320)

# Name Status NCT ID Phase Drugs
1 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
2 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
3 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
4 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
5 Rectus Femoris Tenotomy Versus Botulinum Toxin A for Stiff Knee Gait After Stroke Unknown status NCT02114736 Phase 4 Botulinum Toxin injection in the rectus femoris muscle
6 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
7 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4 Botulinum Toxin Type A
8 SISTERS: Spasticity In Stroke Study - Randomized Study Completed NCT01032239 Phase 4 intrathecal baclofen
9 Vanderbilt University Spasticity Management Program Evaluation Plan Completed NCT00179114 Phase 4 Botulinum Toxin Type A;Intrathecal baclofen administered by the Medtronic SyncroMed(TM) pump (ITB)
10 The Balloon Project for Birth Induction Completed NCT01255839 Phase 4 Minprostin
11 Study of Memantine for Gait Disorders And Attention Deficit In Parkinson's Disease Completed NCT01108029 Phase 4 memantine;placebo
12 A Study Comparing the Use of Deep or Standard Neuromuscular Blockade in Combination With Low or Standard Insufflation Pressures in Participants Undergoing Laparoscopic Cholecystectomy (P07982) Completed NCT01728584 Phase 4 Rocuronium;Sugammadex
13 Remifentanil Use in Pediatric Rigid Bronchoscopy Completed NCT01947114 Phase 4 Propofol;Ketamine;Remifentanil
14 Botulinum Toxin A Adult Gastrocnemius Muscle Study Completed NCT01278576 Phase 4 BOTOX-A®
15 Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
16 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
17 BOTOX® Versus Zanaflex® for the Treatment of Post-Stroke or Traumatic Brain Injury Upper Limb Spasticity Completed NCT00430196 Phase 4 BOTOX®;Zanaflex®
18 Study to Assess Impact of Dysport Injections Early After Stroke on Upper Limb Spasticity Progression Completed NCT02321436 Phase 4 BotulinumtoxinA;Placebo
19 Asian Botulinum Clinical Trial Designed for Early Stroke Spasticity Completed NCT00234546 Phase 4 Botulinum toxin type A (Dysport®)
20 Effects on Quality of Life Following Dysport Treatment in Post-Stroke Spasticity of the Arm Completed NCT00216411 Phase 4 Botulinum type A toxin (Dysport)
21 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
22 Safety of Xeomin for Lower Limb Spasticity in Multiple Sclerosis Patients Completed NCT01968902 Phase 4
23 A Randomized Study of Sativex on Cognitive Function and Mood: Multiple Sclerosis Patients Completed NCT01964547 Phase 4 Sativex;Placebo
24 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
25 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
26 The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination Recruiting NCT03367429 Phase 4 Botox
27 Comparison of Vaginal Misoprostol Plus Supracervical Balloon Versus Vaginal Misoprostol Alone for Induction of Labor Recruiting NCT02762942 Phase 4 Misoprostol
28 Efficacy and Safety of Hourly Titrated Misoprostol Versus Vaginal Dinoprostone and Misoprostol for Cervical Ripening and Labor Induction Recruiting NCT02902653 Phase 4 Oral misoprostol;Vaginal misoprostol;Vaginal dinoprostone
29 The Effect of a Self-rehabilitation Program in Addition to Usual Treatment for Spasticity on Impairment and Activity Limitation in Patients With Spastic Hemiparesis Following Stroke Recruiting NCT02944929 Phase 4
30 Intrathecal Baclofen (ITB) Delivery Location and Its Effect on Spasticity Recruiting NCT02903823 Phase 4 Baclofen bolus injection
31 Study of the Effects on Motor Recovery of Early Post-stroke Spasticity Treatment Recruiting NCT02462317 Phase 4 botulinum A toxin;Baclofen;Placebo toxin;placebo baclofen
32 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
33 Study to Evaluate Effects of DYSPORT® Injected in Lower and Upper Limb Combined With Guided Self-Rehabilitation Contract (GSC) Active, not recruiting NCT02969356 Phase 4 AbobotulinumtoxinA (Dysport®)
34 Randomised, Evaluation-blinded, Crossover, Controlled Study Assessing Dynamic Hand Splinting in Adults With Post-stroke Hemiplegia (Orthox) Not yet recruiting NCT02888548 Phase 4
35 Meditoxin® Treatment in Patients With Post Stroke Upper Limb Spasticity Not yet recruiting NCT02757404 Phase 4
36 Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
37 Botulinim Toxin Type A Injections by Different Guidance in Stroke Patients With Spasticity on Upper Extremities Unknown status NCT02557737 Phase 3 Botulinum Toxin Type A
38 Botulinim Toxin Type A Injections by Different Guidance in Stroke Patients With Spasticity on Lower Extremities Unknown status NCT02469948 Phase 3 Botulinum toxin type A
39 Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3 Tamibarotene
40 HEMITOX : Effect of Botulinum Toxin Injections on Motor and Functional Ability of Upper Limb in Adults at Earlier Phases of Spastic Hemiplegia After Stroke Unknown status NCT00276185 Phase 3 Time delay treatment of botulinum toxin
41 Study of a New Generation Botulinum Toxin A2NTX to Treat Spasticity After Stroke Unknown status NCT01910363 Phase 2, Phase 3 A2NTX;BOTOX
42 Titrated Oral Compared With Vaginal Misoprostol for Labor Induction at Term Completed NCT00529295 Phase 3 misoprostol
43 Cervical Ripening Before Induction of Labour at Term: a Randomised Comparison of Prostin vs Propess Completed NCT00545194 Phase 3 Prostaglandin E2
44 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
45 A Study to Evaluate the Botulinum Toxin Type A for Injection(HengLi®) in Subjects With Post-stroke Upper Limb Spasticity Completed NCT02280083 Phase 3 Botulinum Toxin Type A for Injection;placebo
46 Efficacy and Safety Dose Titration Study of Botulinum Toxin Type A to Treat Spasticity in the Leg and Arm Completed NCT01603459 Phase 3 IncobotulinumtoxinA
47 BOTOX® Treatment in Adult Patients With Post-Stroke Lower Limb Spasticity Completed NCT01575054 Phase 3 Normal Saline
48 Use of Pentoxifylline in Human T-lymphotropic Virus Type-1 (HTLV-1) Diseases Completed NCT01472263 Phase 3 Pentoxifylline;Placebo
49 MEDITOXIN® Versus BOTOX® in the Treatment of Post-stroke Spasticity of the Upper Limb Spasticity Completed NCT01313767 Phase 3 Botulinum toxin type A;Botulinum Toxin type A
50 Dysport® Adult Lower Limb Spasticity Study Completed NCT01249404 Phase 3 Botulinum type A toxin (Dysport®);Placebo

Search NIH Clinical Center for Hypertonia

Genetic Tests for Hypertonia

Genetic tests related to Hypertonia:

# Genetic test Affiliating Genes
1 Hypertonia 28

Anatomical Context for Hypertonia

MalaCards organs/tissues related to Hypertonia:

38
Spinal Cord, Brain, Testes, Prostate, Lung, Eye, Bone

Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 188)
# Title Authors Year
1
The influence of lower limb impairments on RaceRunning performance in athletes with hypertonia, ataxia or athetosis. ( 29433091 )
2018
2
Management of hypertonia in cerebral palsy. ( 29135566 )
2018
3
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and CafAc-au-Lait Macules and Review of the Literature. ( 29258104 )
2017
4
Hypertonia Assessment Tool. ( 27742862 )
2017
5
A second-degree atrioventricular block with double escape rhythm secondary to paroxysmal vagal hypertonia. ( 28857928 )
2017
6
Hypertonia. ( 28716516 )
2017
7
Spasticity and spastic dystonia: the two faces of velocity-dependent hypertonia. ( 28985544 )
2017
8
Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion. ( 28924745 )
2017
9
Different Effects of Cold Stimulation on Reflex and Non-Reflex Components of Poststroke Spastic Hypertonia. ( 28503163 )
2017
10
Acquired Mutism and Hypertonia in a Toddler. ( 27364777 )
2016
11
Encephalopathy with upper body hypertonia and myoclonus in patient with systemic lupus erythematosus and anti-CASPR2. ( 27432809 )
2016
12
Motor hypertonia and lack of locomotor coordination in mutant mice lacking DSCAM. ( 26683069 )
2016
13
Congenital Hypertonia of the Temporalis Leading to Trismus Since Birth. ( 27408475 )
2016
14
Predictive factors of hypertonia in the upper extremity of chronic stroke survivors. ( 26357437 )
2015
15
Spasticity and its contribution to hypertonia in cerebral palsy. ( 25649546 )
2015
16
Interval training-induced alleviation of rigidity and hypertonia in patients with Parkinson's disease is accompanied by increased basal serum brain-derived neurotrophic factor. ( 25510618 )
2015
17
Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia. ( 25280635 )
2014
18
Physical therapy in the management of pelvic floor muscles hypertonia in a woman with hereditary spastic paraplegia. ( 25478261 )
2014
19
Asymmetries in vestibular evoked myogenic potentials in chronic stroke survivors with spastic hypertonia: evidence for a vestibulospinal role. ( 24680197 )
2014
20
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. ( 25319849 )
2014
21
Unmyelinated axon loss with postnatal hypertonia after fetal hypoxia. ( 24633673 )
2014
22
Effect of radial shock wave therapy on pain and muscle hypertonia: a double-blind study in patients with multiple sclerosis. ( 25257616 )
2014
23
Shock Waves in the Treatment of Muscle Hypertonia and Dystonia. ( 25309915 )
2014
24
Validity of resting myotonometric assessment of lower extremity muscles in chronic stroke patients with limited hypertonia: a preliminary study. ( 25023163 )
2014
25
Neonatal hypertonia - a diagnostic challenge. ( 25495611 )
2014
26
Acquired deforming hypertonia and contractures in elderly subjects: Definition and prevalence in geriatric institutions (ADH survey). ( 24332786 )
2013
27
Muscle hypertonia after permanent focal cerebral ischemia in rats: a qualitative and quantitative behavioral and electrophysiological study. ( 23509968 )
2013
28
Differential diagnosis and treatment of muscle hypertonia as practiced in Zagreb's Centre/Institute for Neuromuscular Diseases. ( 24803845 )
2013
29
Haptic perception of multi-joint hypertonia during simulated patient-therapist physical tele-interaction. ( 24110644 )
2013
30
Haptic recognition of dystonia and spasticity in simulated multi-joint hypertonia. ( 24187266 )
2013
31
Therapist recognition of impaired muscle groups in simulated multi-joint hypertonia. ( 24187243 )
2013
32
Treatment of upper limb extensor hypertonia: case report. ( 23809466 )
2013
33
Baclofen in community paediatric management of hypertonia. ( 23142787 )
2013
34
Further Evaluation of the Scoring, Reliability, and Validity of the Hypertonia Assessment Tool (HAT). ( 23584688 )
2013
35
Topical glyceryl trinitrate ointment for pain related to anal hypertonia after stapled hemorrhoidopexy: a randomized controlled trial. ( 23652752 )
2013
36
Indirect estimates of jaw muscle tension in children with suspected hypertonia, children with suspected hypotonia, and matched controls. ( 22653916 )
2013
37
Managing spastic hypertonia in children with cerebral palsy via repetitive passive knee movements. ( 22366894 )
2012
38
Botulinum toxin-A use in paediatric hypertonia: Canadian practice patterns. ( 22728860 )
2012
39
Is oral baclofen effective in neonatal hypertonia? ( 21940694 )
2012
40
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. ( 22442437 )
2012
41
Electromyogram-lengthening velocity relation in plantar flexors during stance phase of gait in patients with hypertonia after acquired brain injury. ( 22465583 )
2012
42
Coactivation of ankle muscles during stance phase of gait in patients with lower limb hypertonia after acquired brain injury. ( 22325644 )
2012
43
Effect of concentration and mode of intrathecal baclofen administration on soleus H-reflex in patients with muscle hypertonia. ( 22595326 )
2012
44
Casting for upper limb hypertonia: a retrospective study to determine the factors associated with intervention decisions. ( 23232165 )
2012
45
Commentary on "spasticity or reversible muscle hypertonia?". ( 21826390 )
2011
46
Arm motor control as predictor for hypertonia after stroke: a prospective cohort study. ( 21878212 )
2011
47
Spasticity or reversible muscle hypertonia? ( 21491075 )
2011
48
An old drug for use in the prevention of sudden infant unexpected death due to vagal hypertonia. ( 21814782 )
2011
49
Commentary on "spasticity or reversible muscle hypertonia?". ( 21826387 )
2011
50
Time course quantification of spastic hypertonia following spinal hemisection in rats. ( 20149848 )
2010

Variations for Hypertonia

Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

Pathways for Hypertonia

GO Terms for Hypertonia

Molecular functions related to Hypertonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 8.62 SLC13A5 SLC6A5

Sources for Hypertonia

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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