MCID: HYP264
MIFTS: 35

Hypertonia

Categories: Muscle diseases, Neuronal diseases
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Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia 52 28 5 75

Classifications:



Summaries for Hypertonia

NINDS: 52 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 hyperekplexia and early infantile epileptic encephalopathy. An important gene associated with Hypertonia is TSEN54 (TRNA Splicing Endonuclease Subunit 54). The drugs Acetylcholine and Trihexyphenidyl have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and globus pallidus, and related phenotype is mortality/aging.

Wikipedia: 75 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 281)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 31.5 TRAK1 SLC6A5
2 early infantile epileptic encephalopathy 29.2 TRAK1 CASK BRAT1
3 microcephaly 28.8 TSEN54 SMC1A PRORP CASK BRAT1
4 pontocerebellar hypoplasia, type 4 11.1
5 phosphoserine aminotransferase deficiency 11.1
6 spasticity 11.0
7 microcephaly, postnatal progressive, with seizures and brain atrophy 11.0
8 combined oxidative phosphorylation deficiency 21 11.0
9 hyperekplexia 4 11.0
10 muscular hypertonia, lethal 11.0
11 alopecia-mental retardation syndrome 1 10.9
12 spinocerebellar degeneration and corneal dystrophy 10.9
13 dihydropyrimidine dehydrogenase deficiency 10.9
14 weaver syndrome 10.9
15 spastic paraplegia 50, autosomal recessive 10.9
16 spastic paraplegia 47, autosomal recessive 10.9
17 spastic paraplegia 52, autosomal recessive 10.9
18 keppen-lubinsky syndrome 10.9
19 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities 10.9
20 developmental and epileptic encephalopathy 21 10.9
21 glycine encephalopathy with normal serum glycine 10.9
22 neurodevelopmental disorder with or without seizures and gait abnormalities 10.9
23 neurodevelopmental disorder with seizures and speech and walking impairment 10.9
24 spastic tetraplegia and axial hypotonia, progressive 10.9
25 combined oxidative phosphorylation deficiency 54 10.9
26 neurodegeneration, childhood-onset, with progressive microcephaly 10.9
27 microcephaly brain defect spasticity hypernatremia 10.9
28 hypotonia 10.9
29 dyskinetic cerebral palsy 10.8
30 spastic diplegia 10.8
31 hyperekplexia 1 10.8
32 chromosome 9p deletion syndrome 10.8
33 crigler-najjar syndrome, type i 10.8
34 hydroxykynureninuria 10.8
35 krabbe disease 10.8
36 lissencephaly 2 10.8
37 d-bifunctional protein deficiency 10.8
38 hyperphenylalaninemia, bh4-deficient, c 10.8
39 hyperphenylalaninemia, bh4-deficient, a 10.8
40 peroxisomal acyl-coa oxidase deficiency 10.8
41 developmental and epileptic encephalopathy 8 10.8
42 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia 10.8
43 ogden syndrome 10.8
44 neurodevelopmental disorder with epilepsy and hemochromatosis 10.8
45 intellectual disability-hypotonic facies syndrome, x-linked, 1 10.8
46 intellectual developmental disorder, x-linked, syndromic, snyder-robinson type 10.8
47 combined oxidative phosphorylation deficiency 1 10.8
48 congenital disorder of glycosylation, type iij 10.8
49 spastic paraplegia 51, autosomal recessive 10.8
50 tetrasomy 18p 10.8

Graphical network of the top 20 diseases related to Hypertonia:



Diseases related to Hypertonia

Symptoms & Phenotypes for Hypertonia

MGI Mouse Phenotypes related to Hypertonia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.17 CASK OTX2 PRORP SLC6A5 SMC1A TRAK1

Drugs & Therapeutics for Hypertonia

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 1, Phase 2 51-84-3 187
2
Trihexyphenidyl Approved Phase 2 144-11-6 5572
3
Baclofen Approved Phase 2 1134-47-0 2284
4 Botulinum Toxins Phase 1, Phase 2
5
abobotulinumtoxinA Phase 1, Phase 2
6 Botulinum Toxins, Type A Phase 1, Phase 2
7 Antiparkinson Agents Phase 2
8 Muscarinic Antagonists Phase 2
9 Cholinergic Antagonists Phase 2
10 Cholinergic Agents Phase 2
11 Neurotransmitter Agents Phase 2
12 GABA Agonists Phase 2
13
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
14
Tannic acid Approved 1401-55-4 16129878 16129778
15
Nitrendipine Approved, Investigational 39562-70-4 4507
16
Enalaprilat Approved 76420-72-9 6917719 5462501
17
Enalapril Approved, Vet_approved 75847-73-3 40466924 5388962 5362032
18
Maleic acid Experimental, Investigational 110-16-7, 110-17-8 444266 444972
19 Hormones
20 Antihypertensive Agents
21 Angiotensin-Converting Enzyme Inhibitors
22 Vasodilator Agents
23 Calcium, Dietary
24 HIV Protease Inhibitors
25 calcium channel blockers
26
protease inhibitors
27
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 ASIS for Botox in Upper Limb Spasticity Unknown status NCT02074150 Phase 1, Phase 2 Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12,;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
2 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
3 Early Treatment of Paroxysmal Dysautonomia and Hypertonia for Severe Brain Injured Patients by Intrathecal Baclofen Therapy Terminated NCT00221689 Phase 2 baclofen (drug)
4 Effects of Multichannel Transcranial Direct Current Stimulation to Reduce Hypertonia in Patients With Prolonged Disorders of Consciousness: a Pilot Study. Completed NCT03797573 Phase 1
5 Assessment of the Efficacy of a Sensorimotor Approach After Maximum Three Sessions in Subjects With Symptomatic Temporomandibular Dysfunction (TMD) With Hypertonia: A Prospective, Multicenter Case Study. Unknown status NCT02632643
6 Impact of Listening to Low Tones Via Sterephonic Headphones on Hypertonia and Motor Function in Children With Cerebral Palsy- Randomized Controlled Study Unknown status NCT00394641
7 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
8 Clinical Trial of Surface EMG Biofeedback for Children With Cerebral Palsy and Associated Movement Disorders Unknown status NCT01681888
9 Reactibility of Muscle Volume to Ribs Mobilization According to L.Mojzisova. Unknown status NCT04685785
10 Effects of Long-term Foam Rolling Compared to Static Stretching on Hamstring Muscle Flexibility Unknown status NCT02808923
11 The Effects of Continuous Passive Motion on Hypertonia of Soleus in Individuals With Cerebral Palsy Completed NCT02003755
12 Initial Assessment of the Use of Surface Electromyography as a Tool for Clinical Evaluation of Hypertonia in Children Completed NCT00472914
13 Comparing the Effect of Focused and Radial Extracorporeal Shock Waves on Post-stroke Hypertonia Completed NCT03129529
14 Quantification of Upper Extremity Hypertonia Completed NCT00285870
15 Hypertonia in Patients With Cerebral Palsy Completed NCT00123708
16 Examination of Patients With Isolated Systolic Hypertonia (ISH) Under Therapy With ENEAS®. Completed NCT01074281 Enalapril maleate (10 mg) + nitrendipine (20 mg)
17 Use of Surface Electromyography Biofeedback to Improve Reaching in Children With Cerebral Palsy Completed NCT00473161
18 Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity Completed NCT03209960
19 Evaluation of the Effect of the Presence Of Clowns on Pain and Anxiety Seen During Injections Botulinum Toxin in Child Completed NCT03149263
20 Optimal Interstimulus Interval For Consecutive H-Reflex Responses In Patients With Spasticity Completed NCT04005937
21 From Research to Clinical Practice. Applying an Algorithm for Prognosis of Upper Limb Paresis in Patients With Subacute Stroke Completed NCT03632499
22 Dynamic Lycra Orthosis as an Adjunct to Botulinum Toxin-A Injection of the Upper Limb in Adults Following Stroke: A Single-blinded Randomized Controlled Trial Completed NCT03546959 Botulinum Toxin
23 Prevalence of Comorbid Spasticity and Urinary Incontinence in Residents of a Long-Term Care Facility Completed NCT03250988
24 Using Telemedicine to Improve Spasticity Diagnosis Rates Completed NCT03211390
25 Effectiveness of Combining Matrix Rhythm Therapy and Bobath Toncept on Increased Muscle Tone, Balance and Gait Parameters in Stroke Individuals With Spastic Hemiparesis: A Single-Blind, Randomized, Controlled Clinical Trial Completed NCT04213417
26 MRI Evaluation of Change in Gluteal Muscles Following the Treatment With HIFEM Device Completed NCT03815747
27 MyoSense- Automated Muscle Hypertonicity Classification System Completed NCT02076581
28 The Association Between Ankle Mobility and Achilles Tendon, Plantar Fascia, Iliotibial Band Stiffness and Elasticity in Athletes Completed NCT04737226
29 The Effects of Cranial Laser Reflex Technique on Hamstring Flexibility, Strength, and Pain Pressure Threshold: a Pilot Study Completed NCT03044106
30 Efficacy of Abdominal Treatment With High-Intensity Focused Electromagnetic (HIFEM) Field Device in Women After Childbirth Completed NCT03758690
31 Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus) Completed NCT03176069
32 Efficacy of HIFEM Treatments for Strengthening and Toning of Arms, Lower Limbs and Oblique Muscles Completed NCT04426526
33 Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia Recruiting NCT05527652
34 The Effect of Manual Therapy and Therapeutic Exercises on Mandibular Analgesia, Muscles Relaxation, and Range of Motion in Patients With Masticatory Muscles Disorder Recruiting NCT05619380
35 A Natural History Study of hnRNP and Other Gene-related Disorders Recruiting NCT03492060
36 Study on Quantitative Evaluation of Muscle Tone Using Elastic Ultrasound Recruiting NCT04275401
37 Safety and Efficacy of Electrical Muscle Stimulation Combined With 1064 nm Diode Laser, Pulsed Electromagnetic Field (PEMF) and Vacuum Assisted Radio Frequency (RF) for Non-invasive Body Contouring and Fat Reduction. Recruiting NCT05256771
38 The Effect of Different Physiotherapeutic Stimuli on Mandibular Analgesia and Range of Motion in Patients With Masticatory Muscles Disorder. Not yet recruiting NCT05021874
39 Grand Autohemo-Therapy With Oxygen-ozone on Patients With Hypertonia Terminated NCT01902602
40 The Effect of Treatment With the Doublestim™ Neuromodulation System Incorporating Transcutaneous Spinal Direct Current Stimulation Paired With Robotic Therapy in Patients With Wrist Spasticity After Stroke Terminated NCT04113525
41 Effect of Local Pressure Application on Muscle Activity and General Relaxation in Persons With Hypertonia Following Stroke Withdrawn NCT04188769

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

Organs/tissues related to Hypertonia:

MalaCards : Spinal Cord, Brain, Globus Pallidus, Heart, Skeletal Muscle, Smooth Muscle, Caudate Nucleus

Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 1978)
# Title Authors PMID Year
1
Non-REM sleep with hypertonia in Parkinsonian Spectrum Disorders: A pilot investigation. 62
36274383 2022
2
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. 62
36368327 2022
3
Repeat corneal transplantation: indication, surgical technique, and early graft failures trends in France from 2004 to 2019. 62
35037182 2022
4
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy. 62
36195292 2022
5
Plasmatic catecholamines after neuraxial labour analgesia: A randomised controlled trial comparing epidural versus combined spinal-epidural. 62
36067925 2022
6
Pelvic floor dysfunction at transperineal ultrasound and chronic constipation in women with endometriosis. 62
34995357 2022
7
Bilateral anterior uveitis following paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 - Case report and focused review. 62
36383060 2022
8
Risk factors of rejection after penetrating keratoplasty: a retrospective monocentric study. 62
35546638 2022
9
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. 62
36371792 2022
10
Enhanced nociceptive behavior and expansion of associated primary afferents in a rabbit model of cerebral palsy. 62
35839339 2022
11
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders. 62
35985664 2022
12
Cerebral Palsy: Current Concepts and Practices in Musculoskeletal Care. 62
36180545 2022
13
Lasting Peripheral and Central Effects of Botulinum Toxin Type A on Experimental Muscle Hypertonia in Rats. 62
36232926 2022
14
Fatty liver and atherogenic dyslipidemia have opposite effects on diabetic micro- and macrovascular disease. 62
36116326 2022
15
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review. 62
36218002 2022
16
Isokinetic Resistance Training for Ankle Plantarflexor Spasticity and Muscle Weakness in People with Multiple Sclerosis: A Proof-of-Concept Case Series. 62
36222464 2022
17
[Pilot study: evaluation of manual methods for modulating the cardinal symptom tinnitus : A prospective randomized study]. 62
35920880 2022
18
[How to treat spasticity after stroke ?] 62
36082592 2022
19
Paratonia, Gegenhalten and psychomotor hypertonia Back to the roots. 62
36155159 2022
20
Contribution of Different Impairments to Restricted Knee Flexion during Gait in Individuals with Cerebral Palsy. 62
36294708 2022
21
Effects of ankle continuous passive motion on soleus hypertonia in individuals with cerebral palsy: A case series. 62
34332162 2022
22
CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia. 62
35987847 2022
23
Acupuncture alleviates spinal hyperreflexia and motor dysfunction in post-ischemic stroke rats with spastic hypertonia via KCC2-mediated spinal GABAA activation. 62
35245503 2022
24
Demographic Features, Physical Examination Findings, and Medication Use in Hospitalized, Delirious Patients With and Without COVID-19 Infection: A Retrospective Study. 62
35948255 2022
25
Effects of dry needling on function, hypertonia and quality of life in chronic stroke: a randomized clinical trial. 62
34894776 2022
26
Ultrasonography Comparison of Pelvic Floor and Abdominal Wall Muscles in Women with and without Dyspareunia: A Cross-Sectional Study. 62
36010178 2022
27
Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging. 62
35775132 2022
28
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder. 62
35460391 2022
29
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome. 62
35526563 2022
30
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes. 62
35636282 2022
31
Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population. 62
35888687 2022
32
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review. 62
36004024 2022
33
Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant. 62
35663789 2022
34
Terminal H-reflex Measurements in Mice. 62
35781283 2022
35
Task and ecologically based assessment of upper-limb passive function before and after botulinum injections in adults with stroke using the Upper-Limb Performance Assessment: French cross-cultural adaptation and feasibility pilot study. 62
35701095 2022
36
The use of surface EMG in neurorehabilitation following traumatic spinal cord injury: A scoping review. 62
35364465 2022
37
Effects of the Structured Water Dance Intervention (SWAN) on muscular hypertonia in adults with profound intellectual and multiple disabilities. 62
35610353 2022
38
Time course response after single injection of botulinum toxin to treat spasticity after stroke: Systematic review with pharmacodynamic model-based meta-analysis. 62
34634514 2022
39
A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report. 62
35777792 2022
40
Molybdenum cofactor deficiency: A natural history. 62
35192225 2022
41
Which is the Most Common Physiologic Type of Cerebral Palsy? 62
35864637 2022
42
Hyperthyroidism in Graves Disease Causes Sleep Disorders Related to Sympathetic Hypertonia. 62
35022743 2022
43
Spectrum of Movement Disorders and Correlation with Functional Status in Children with Cerebral Palsy. 62
34097232 2022
44
Az obstruktív alvási apnoe főbb jellemzőinek vizsgálata. 62
35398816 2022
45
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series. 62
35106698 2022
46
Cost-effectiveness of upper extremity dry needling in the rehabilitation of patients with stroke. 62
34856821 2022
47
Effects of Pharmacologic Treatment for Neonatal Abstinence Syndrome on DNA Methylation and Neurobehavior: A Prospective Cohort Study. 62
34971656 2022
48
Prevalence and Treatment Characteristics of Spastic Hypertonia on First-Time Admission to Acute Inpatient Rehabilitation. 62
34121067 2022
49
An Observational Cross-Sectional Study of Gender and Disability as Determinants of Person-Centered Medicine in Botulinum Neurotoxin Treatment of Upper Motoneuron Syndrome. 62
35448855 2022
50
Two-year follow-up of children with congenital Zika syndrome: the evolution of clinical patterns. 62
34661750 2022

Variations for Hypertonia

ClinVar genetic disease variations for Hypertonia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMC1A NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) MICROSAT Pathogenic
180197 rs727503773 GRCh37: X:53439900-53439902
GRCh38: X:53412950-53412952
2 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:2339561-2826073) CN LOSS Pathogenic
523261 GRCh37: 17:2339561-2826073
GRCh38:
3 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic
2120 rs113994152 GRCh37: 17:73518081-73518081
GRCh38: 17:75522000-75522000
4 CASK NM_001367721.1(CASK):c.2236+1delinsAT INDEL Likely Pathogenic
523464 rs1555975523 GRCh37: X:41394145-41394145
GRCh38: X:41534892-41534892
5 OTX2 NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) INDEL Likely Pathogenic
523565 rs1555350397 GRCh37: 14:57270986-57270988
GRCh38: 14:56804268-56804270
6 PRORP NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln) SNV Likely Pathogenic
638209 rs777185638 GRCh37: 14:35735991-35735991
GRCh38: 14:35266785-35266785
7 PRORP NM_014672.4(PRORP):c.1197dup (p.Ser400fs) DUP Likely Pathogenic
638210 rs764714439 GRCh37: 14:35649901-35649902
GRCh38: 14:35180695-35180696
8 COL6A2 NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) SNV Uncertain Significance
598977 rs753298014 GRCh37: 21:47545737-47545737
GRCh38: 21:46125823-46125823
9 CACNA1A NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) SNV Uncertain Significance
386521 rs563345694 GRCh37: 19:13323262-13323262
GRCh38: 19:13212448-13212448
10 ASXL1 NM_015338.6(ASXL1):c.664G>A (p.Glu222Lys) SNV Uncertain Significance
433179 rs780662350 GRCh37: 20:31017802-31017802
GRCh38: 20:32429999-32429999

Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

Pathways for Hypertonia

GO Terms for Hypertonia

Biological processes related to Hypertonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 8.62 TSEN54 PRORP

Sources for Hypertonia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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