BPPV
MCID: BNG018
MIFTS: 40

Benign Paroxysmal Positional Nystagmus (BPPV)

Categories: Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Benign Paroxysmal Positional Nystagmus

MalaCards integrated aliases for Benign Paroxysmal Positional Nystagmus:

Name: Benign Paroxysmal Positional Nystagmus 12 15
Benign Paroxysmal Positional Vertigo 12 73 20 44 62 70
Familial Benign Recurrent Vertigo 20
Familial Vestibulopathy 20
Bppv 20

Classifications:



External Ids:

Disease Ontology 12 DOID:13941
ICD9CM 34 386.11
MeSH 44 D065635
SNOMED-CT 67 111541001
UMLS 70 C0155502

Summaries for Benign Paroxysmal Positional Nystagmus

PubMed Health : 62 About benign paroxysmal positional vertigo: Vertigo can be described as a kind of dizziness that makes it feel like everything is spinning around or moving. It can occur while standing, walking or lying down. Depending on what’s causing the dizziness, the length of an episode can vary greatly, and may be accompanied by drowsiness, nausea or other symptoms. The most common cause of this type of vertigo is benign paroxysmal positional vertigo (BPPV). Here certain movements cause dizziness for a short time. BPPV is quite easy to diagnose and treat.

MalaCards based summary : Benign Paroxysmal Positional Nystagmus, also known as benign paroxysmal positional vertigo, is related to peripheral vertigo and vestibular neuronitis, and has symptoms including vertigo, vertigo/dizziness and cupulolithiasis. An important gene associated with Benign Paroxysmal Positional Nystagmus is OTOL1 (Otolin 1). The drugs Calcium carbonate and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and eye, and related phenotype is hearing/vestibular/ear.

Wikipedia : 73 Benign paroxysmal positional vertigo (BPPV) is a disorder arising from a problem in the inner ear.... more...

Related Diseases for Benign Paroxysmal Positional Nystagmus

Diseases related to Benign Paroxysmal Positional Nystagmus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 peripheral vertigo 30.5 OTOL1 OTOG
2 vestibular neuronitis 30.4 OTOP1 OTOL1 CACNA1A
3 meniere disease 30.4 RERGL OTOG
4 vestibular disease 30.0 OTOL1 OTOG
5 branchiootic syndrome 1 30.0 TECTA OTOG
6 vertigo, benign recurrent 11.3
7 rickets 10.8
8 anxiety 10.6
9 auditory system disease 10.6
10 pathologic nystagmus 10.6
11 inner ear disease 10.6
12 spondylosis 10.5
13 cerebrovascular disease 10.5
14 47,xyy 10.5
15 spondylosis, cervical 10.5
16 viral labyrinthitis 10.5
17 acoustic neuroma 10.5
18 sleep disorder 10.5
19 pure autonomic failure 10.5
20 multiple sclerosis 10.4
21 vertebrobasilar insufficiency 10.4
22 vascular disease 10.4
23 neurilemmoma 10.4
24 perilymphatic fistula 10.4
25 depression 10.4
26 autoimmune disease 10.3
27 hypercholesterolemia, familial, 1 10.3
28 pulmonary disease, chronic obstructive 10.3
29 nasopharyngeal carcinoma 10.3
30 meningioma, familial 10.3
31 bone resorption disease 10.3
32 superior semicircular canal dehiscence 10.3
33 b-lymphoblastic leukemia/lymphoma 10.3
34 intracranial meningioma 10.3
35 hydrocephalus 10.3
36 otosclerosis 10.3
37 generalized anxiety disorder 10.3
38 hyperglycemia 10.3
39 secretory meningioma 10.3
40 lymphoplasmacyte-rich meningioma 10.3
41 movement disease 10.3
42 herpes zoster 10.3
43 dissociated nystagmus 10.3
44 migraine with or without aura 1 10.2
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
46 nonsyndromic deafness 10.2 TECTA OTOG
47 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.2 TECTA OTOG
48 sensorineural hearing loss 10.2
49 spondyloarthropathy 1 10.2
50 atrial standstill 1 10.2

Graphical network of the top 20 diseases related to Benign Paroxysmal Positional Nystagmus:



Diseases related to Benign Paroxysmal Positional Nystagmus

Symptoms & Phenotypes for Benign Paroxysmal Positional Nystagmus

UMLS symptoms related to Benign Paroxysmal Positional Nystagmus:


vertigo; vertigo/dizziness; cupulolithiasis

MGI Mouse Phenotypes related to Benign Paroxysmal Positional Nystagmus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 OTOG OTOGL OTOP1 SLITRK6 TECTA

Drugs & Therapeutics for Benign Paroxysmal Positional Nystagmus

PubMed Health treatment related to Benign Paroxysmal Positional Nystagmus: 62

“Repositioning” procedures or maneuvers are commonly used to treat BPPV. They involve moving the patient into specific lying or sitting positions following a certain sequence, with specific positions of the head. The sequence of movements is designed to help move the tiny crystals out of the posterior semicircular canal and into areas of the vestibular system where they can no longer disturb the sensory hair cells . The Epley maneuver and the Semont maneuver are two very simple and effective repositioning procedures for the treatment of BPPV caused by crystals in the posterior semicircular canal . These maneuvers are typically done several times with the help of a doctor. There are also slightly modified repositioning procedures that can be done at home in addition to the doctor-assisted maneuvers. The crystals are only rarely found in either of the other semicircular canals . Then other repositioning maneuvers can be used. Medication can help if the vertigo is causing nausea . If the symptoms persist, surgery on the vestibular system may be considered. This involves destroying either the nerve fibers that are connected to the affected semicircular canal , or the semicircular canal itself. The hair cells can then no longer transmit misleading information – or any other information – to the brain . This means that the vestibular system in that ear is permanently affected by the surgery.

Drugs for Benign Paroxysmal Positional Nystagmus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium carbonate Approved, Investigational Phase 4 471-34-1
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
4 Gastrointestinal Agents Phase 4
5 Trace Elements Phase 4
6 Nutrients Phase 4
7 Micronutrients Phase 4
8 Vitamins Phase 4
9 Calciferol Phase 4
10 Hormones Phase 4
11 Antacids Phase 4
12 Anti-Ulcer Agents Phase 4
13 Calcium Supplement Phase 4
14 Calcium, Dietary Phase 4
15
Calcium Nutraceutical Phase 4 7440-70-2 271
16
Lorazepam Approved 846-49-1 3958
17
Meclizine Approved 569-65-3 4034
18
Ondansetron Approved 99614-02-5 4595
19
Diphenhydramine Approved, Investigational 147-24-0, 58-73-1 3100
20
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
21
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
22
Promethazine Approved, Investigational 60-87-7 4927
23
Betahistine Approved, Investigational 5638-76-6 2366
24 Kava Approved, Investigational, Nutraceutical 9000-38-8
25 Vasodilator Agents
26 Antiemetics
27 Hypnotics and Sedatives
28 Psychotropic Drugs
29 Anesthetics
30 Neurotransmitter Agents
31 GABA Modulators
32 Anti-Allergic Agents
33 Anesthetics, Local
34 Antipsychotic Agents
35 Anticonvulsants
36 Histamine Antagonists
37
Histamine Phosphate 51-74-1 65513
38 Dermatologic Agents
39 Anti-Anxiety Agents
40 Histamine H1 Antagonists
41
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Efficacy of Vitamin D and Calcium Supplementation on the Prevention of Recurrences in Benign Paroxysmal Positional Vertigo: A Prospective Multicenter Randomized Trial Completed NCT02031692 Phase 4 400IU cholecalciferol and 500mg of elemental calcium as calcium carbonate
2 Randomized Multicenter Study of Treatment of Horizontal Canal Benign Paroxysmal Positional Vertigo Completed NCT00810641 Phase 3
3 Treatment of Geotropic Horizontal Canal Benign Paroxysmal Positional Vertigo; Randomized Controlled Trial of Barbeque Rotation and Gufoni Maneuver Completed NCT01366430 Phase 3
4 The Effectiveness Comparison of Three Different Methods for the Treatment of Posterior Semicircular Canal Benign Paroxysmal Positional Vertigo: Prospective, Double Blinded, Randomized, Multicenter Clinical Trial Completed NCT02029508 Phase 3
5 Treatment of Benign Paroxysmal Positional Vertigo With the Canalith Repositioning Procedure in Family Practice: A Randomized Controlled Trial Completed NCT00182273 Phase 3
6 Visual Feedback Goggle For The Treatment Of Benign Paroxysmal Positional Vertigo in a Randomized Single-Blind Study Unknown status NCT00729885 Phase 1, Phase 2
7 Treatments for Benign Paroxysmal Positional Vertigo (BPPV) Completed NCT00000359 Phase 2
8 Treatment of Apogeotropic Horizontal Canal Benign Paroxysmal Positional Vertigo Completed NCT02046980 Phase 2
9 A Double Blinded Randomized Control Trial (RCT) to Evaluate the Effectiveness of Vitamin D Treatment in Lowering the Recurrence Rate of Benign Paroxysmal Positional Vertigo (BPPV) in Older Patients Not yet recruiting NCT04578470 Phase 2 Vitamin D;Placebo
10 Randomized Controlled Trials for Treatment of Benign Paroxysmal Positional Vertigo Unknown status NCT01822002
11 Inactivity, Balance Problems and Fall Risk in Institutionalized Frail Elderly: What is the Impact of Benign Paroxysmal Positional Vertigo (BPPV) and Treatment Effectiveness? Unknown status NCT02905292
12 Efficacy of Postural Restriction in Treating Benign Paroxysmal Positional Vertigo Unknown status NCT02475239
13 The Effect of Vestibular Exercise, With or Without Medication, in Managing Residual Dizziness After Successful Repositioning Maneuvers in Patients With Benign Paroxysmal Positional Vertigo Unknown status NCT03624283 Betahistine
14 Clinical Aspects of Patients With Benign Paroxysmal Positional Vertigo (BPPV) and Migraine Completed NCT02615314
15 Comparison of Home-Based Modified Self-Epley Manoeuvre and Brandt-Daroff Exercise on the Posterior Canal Benign Paroxysmal Positional Vertigo Symptoms: A Randomized Single-Blind Controlled Trial Completed NCT03230513
16 Partnered Implementation of Evidence Based Best Care Practice for Benign Paroxysmal Positional Vertigo: A Stepped Wedge, Randomized Controlled Clinical Trial Completed NCT02809599
17 Can Benign Paroxysmal Positional Vertigo (BPPV) be Treated Faster and More Efficiently by Using a Mechanical Rotational Chair Compared to the Traditional Manual Repositioning Maneuvers? Completed NCT03871413
18 A Randomized Trial to Evaluate Resolution of Symptoms Using Vestibular Rehab Versus Conventional Therapy in Patients Presenting to the Emergency Department (ED) With Diagnosis of Benign Paroxysmal Positional Vertigo (BPPV) Completed NCT00641797 Meclizine;Lorazepam;Diphenhydramine;Ondansetron
19 Evaluation of the Otolithic Organs Function in Patients Suffering From Benign Paroxysmal Positional Vertigo (BPPV) by Vestibular Evoked Myogenic Potentials (VEMP). Completed NCT01004913
20 The Cardiac Autonomic Control System Response to Vestibular Stimulation in Subjects With and Without BPPV Completed NCT03867019
21 Effectiveness of the Epley Maneuver Versus Vestibular Exercises in the Treatment of Benign Paroxysmal Positional Vertigo (BPPV) Completed NCT04715282
22 Comparison of Half-Somersault Exercise With Brandt-Daroff Exercise in Patients With Posterior Canal Benign Paroxysmal Positional Vertigo: A Randomized Clinical Trial Completed NCT04469309
23 Effectiveness of Osteopathic Manipulative Treatment (OMT) and Vestibular Rehabilitation Therapy (VRT) Alone or in Combination on Balance and Visual Function in Individuals With Vertigo and Somatic Dysfunction Completed NCT01529151
24 Randomized Multicenter Study of Benign Paroxysmal Positional Vertigo Treatment in Biaxial Rotational Chair Completed NCT01905800
25 Effectiveness of the Epley Manoeuvre Performed in Primary Care to Treat Posterior Canal Benign Paroxysmal Positional Vertigo Completed NCT01969513
26 Effect of the Cranial Osteopathic Techniques on the Symptoms of Benign Paroxysmal Positional Vertigo Completed NCT03854084
27 Objective Examination and Rehabilitation Treatment of Patients With BPPV Completed NCT04367194
28 Comparison of the Treatment Outcomes of Posterior Canal Benign Paroxysmal Positional Vertigo (BPPV) With Canalith Repositioning Procedure (CRP): Single Versus Multiple Cycles Recruiting NCT02701218
29 Which Repositional Maneuver is the Most Successful When Treating Lateral and Posterior Benign Paroxysmal Positional Vertigo With the TRV Repositional Chair? Recruiting NCT03541018
30 Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Dizziness Trial Recruiting NCT04026516
31 Efficacy of a New Type of Mechanical Rotational Chair (ROTUNDUM) in Treating BPPV Recruiting NCT04147156
32 Benign Paroxysmal Positional Vertigo (BPPV) Training for Sports Medicine Providers in a Pediatric Concussion Program Not yet recruiting NCT03425786
33 Virtual Reality Epley Maneuver System (VREMS) for Treatment of Benign Paroxysmal Positional Vertigo Not yet recruiting NCT04436783
34 Evaluation of the Prevalence of BPPV and Longterm Effects of Its Therapy in Retirement Homes Not yet recruiting NCT03643354
35 Epley Manoeuvre for Posterior Semi-circular Canal Benign Paroxysmal Positional Vertigo in People With Multiple Sclerosis: Protocol of a Randomized Controlled Trial Not yet recruiting NCT04578262
36 Efficacy of a Mechanical Chair for Treatment of Benign Paroxysmal Positional Vertigo (BPPV) Terminated NCT03161470
37 Epley Maneuver vs. Semont Maneuver for Benign Paroxysmal Positional Vertigo (BPPV): Evaluating Treatment Effectiveness by Postural Stability - a Double Blinded Randomized Controlled Trial. Withdrawn NCT00978809
38 The Liberatory Maneuver for the Treatment of Benign Paroxysmal Positional Vertigo: A Randomized Controlled Trial Withdrawn NCT01008124

Search NIH Clinical Center for Benign Paroxysmal Positional Nystagmus

Cochrane evidence based reviews: benign paroxysmal positional vertigo

Genetic Tests for Benign Paroxysmal Positional Nystagmus

Anatomical Context for Benign Paroxysmal Positional Nystagmus

MalaCards organs/tissues related to Benign Paroxysmal Positional Nystagmus:

40
Bone, Endothelial, Eye, Spinal Cord, Brain, Heart, Thyroid

Publications for Benign Paroxysmal Positional Nystagmus

Articles related to Benign Paroxysmal Positional Nystagmus:

(show top 50) (show all 2027)
# Title Authors PMID Year
1
The Impact of the COVID-19 Pandemic on Follow-Ups for Vertigo/Dizziness Outpatients. 61
33295213 2021
2
Which Inner Ear Disorders Lie Behind a Selective Posterior Semicircular Canal Hypofunction on Video Head Impulse Test? 61
33710996 2021
3
Multifactorial Characteristics of Pediatric Dizziness and Imbalance. 61
32809223 2021
4
Clinical Implications of Horizontal Beating Nystagmus Induced by Dix-Hallpike Test in the Diagnosis of Horizontal Canal Benign Paroxysmal Positional Vertigo. 61
33710997 2021
5
Double-Blind Randomized Trial on the Efficacy of the Forced Prolonged Position for Treatment of Lateral Canal Benign Paroxysmal Positional Vertigo. 61
32822510 2021
6
Square wave manoeuvre for apogeotropic variant of horizontal canal benign paroxysmal positional vertigo in neck restricted patients. 61
33777117 2021
7
Agreement Between Physical Therapists in Diagnosing Benign Paroxysmal Positional Vertigo. 61
33675601 2021
8
Linear Vertigo in Benign Paroxysmal Positional Vertigo: Prevalence and Mechanism. 61
33015731 2021
9
The use and misuse of the Dix-Hallpike test in the emergency department. 61
33677822 2021
10
Cerebellar infarction presenting with isolated positional vertigo: differentiating factors for benign paroxysmal positional vertigo. 61
32725450 2021
11
Visualization of horizontal canal benign paroxysmal positional vertigo using 3DCT imaging and its assessment. 61
33781168 2021
12
Walking stability in patients with benign paroxysmal positional vertigo: an objective assessment using wearable accelerometers and machine learning. 61
33789693 2021
13
Author Correction: Carotid imaging changes and serum IL-1β, sICAM-1, and sVAP-1 levels in benign paroxysmal positional vertigo. 61
33767330 2021
14
An evaluation of serum Otolin-1 & Vitamin-D in benign paroxysmal positional vertigo. 61
33720865 2021
15
Prolonged Positional Downbeat Nystagmus in Benign Paroxysmal Positional Vertigo: A Case Report and Literature Review. 61
33784182 2021
16
Characteristics of Benign Paroxysmal Positional Vertigo Following an Earthquake. 61
33715462 2021
17
Sémont Maneuver for Benign Paroxysmal Positional Vertigo Treatment: Moving in the Correct Plane Matters. 61
33165161 2021
18
Benign paroxysmal positional vertigo as a complication of 90-day head-down bed rest. 61
32556783 2021
19
Neurologists' Diagnostic Accuracy and Interspecialties' Diagnostic Concordance of Acute Vertigo: Observational Study at the Emergency Department in a Tertiary Center. 61
33646987 2021
20
[Effect analysis of benign paroxysmal positional vertigo secondary to sudden sensorineural hearing loss]. 61
33794608 2021
21
Hearing Outcomes After Surgical Manipulation of the Membranous Labyrinth During Superior Semicircular Canal Dehiscence Plugging or Posterior Semicircular Canal Occlusion. 61
33710144 2021
22
Migraine Features in Patients With Recurrent Benign Paroxysmal Positional Vertigo. 61
33306663 2021
23
Peripheral Vestibular Disorders: Nationwide Evidence From Taiwan. 61
32621538 2021
24
Epley manoeuvre for posterior semicircular canal benign paroxysmal positional vertigo in people with multiple sclerosis: protocol of a randomised controlled trial. 61
33737443 2021
25
Vestibular agnosia in traumatic brain injury and its link to imbalance. 61
33367536 2021
26
Sequencing and Integration of Cervical Manual Therapy and Vestibulo-oculomotor Therapy for Concussion Symptoms: Retrospective Analysis. 61
33604130 2021
27
Specialty-Specific Diagnoses in Pediatric Patients With Postconcussion Syndrome: Experience From a Multidisciplinary Concussion Clinic. 61
33605602 2021
28
Quantitative assessment of self-treated canalith repositioning procedures using inertial measurement unit sensors. 61
33646186 2021
29
Imbalance Associated With Cisplatin Chemotherapy in Adult Cancer Survivors: A Clinical Study. 61
33606465 2021
30
Temperature Measurements of the Semicircular Canal During Green Laser Irradiation of the Canal: A Preliminary Study. 61
32551961 2021
31
Analyses of the Relation between BPPV and Thyroid Diseases: A Nested Case-Control Study. 61
33671325 2021
32
[Study of ocular vestibular evoked myogenic potentials in benign paroxysmal positional vertigo associated with Meniere's disease]. 61
33540992 2021
33
Positional Nystagmus after Acute Vertiginous Attack in Meniere's Disease. 61
33562076 2021
34
[Climatic variations and vertigo diseases in outpatients clinic of ENT]. 61
33540987 2021
35
Towards Providing an Automated Approach to Differentiating the Nystagmus of Ménière's Disease, Vestibular Migraine, and Benign Paroxysmal Positional Vertigo. 61
33606464 2021
36
Dizziness Handicap Inventory in Clinical Evaluation of Dizzy Patients. 61
33668099 2021
37
Sequential Vestibular Neuritis: Report of Four Cases and Literature Review. 61
33611882 2021
38
Effect of applying head-shaking maneuver before Epley maneuver in BPPV. 61
33642216 2021
39
Mood Disorders are Associated With Increased Risk of BPPV: A National Sample Cohort. 61
32198944 2021
40
Impact of air pollution on benign paroxysmal positional vertigo incidence: a retrospective study of the citizens of Seoul, South Korea. 61
33638780 2021
41
Correction to: Update on benign paroxysmal positional vertigo. 61
33620561 2021
42
Spontaneous Jamming of Horizontal Semicircular Canal Combined with Canalolithiasis of Contralateral Posterior Semicircular Canal. 61
33562956 2021
43
The Video Head Impulse Test in the acute stage of posterior canal benign paroxysmal positional vertigo. 61
33746225 2021
44
Head-Shaking Nystagmus in Posterior Canal Benign Paroxysmal Positional Vertigo with Canalolithiasis. 61
33652740 2021
45
Use of Google Trends to evaluate for environmental variations in search terms for benign paroxysmal positional vertigo. 61
33614943 2021
46
Erratum to "A new variant of posterior canal-benign paroxysmal positional vertigo-canalolithiasis" [Auris Nasus Larynx (2020) 924-930]. 61
33618929 2021
47
Active Head Auto-Rotations in Patients With Benign Paroxysmal Positional Vertigo. 61
33747325 2021
48
Fluctuating Posterior Canal Function in Benign Paroxysmal Positional Vertigo Depending on How and Where Otoconia Are Disposed. 61
33273306 2021
49
Structural and Functional Changes in the Cerebellum and Brainstem in Patients with Benign Paroxysmal Positional Vertigo. 61
33547587 2021
50
Cervical vestibular evoked myogenic potentials in patients with the first episode of posterior canal benign paroxysmal positional vertigo before and after repositioning. 61
33151115 2021

Variations for Benign Paroxysmal Positional Nystagmus

Expression for Benign Paroxysmal Positional Nystagmus

Search GEO for disease gene expression data for Benign Paroxysmal Positional Nystagmus.

Pathways for Benign Paroxysmal Positional Nystagmus

GO Terms for Benign Paroxysmal Positional Nystagmus

Cellular components related to Benign Paroxysmal Positional Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.92 TECTA OTOL1 OTOGL OTOG

Biological processes related to Benign Paroxysmal Positional Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of synapse assembly GO:0051965 9.37 SLITRK6 CBLN1
2 adult locomotory behavior GO:0008344 9.32 SLITRK6 OTOG
3 biomineral tissue development GO:0031214 9.26 OTOP1 BGLAP
4 sensory perception of sound GO:0007605 9.26 TECTA SLITRK6 OTOGL OTOG
5 regulation of presynapse assembly GO:1905606 9.16 SLITRK6 CBLN1
6 L-arabinose metabolic process GO:0046373 8.62 OTOGL OTOG

Molecular functions related to Benign Paroxysmal Positional Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Benign Paroxysmal Positional Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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