MCID: OCL011
MIFTS: 45

Ocular Motility Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Ocular Motility Disease

MalaCards integrated aliases for Ocular Motility Disease:

Name: Ocular Motility Disease 12 15 17
Abnormality of Eye Movement 29 6
Ocular Motility Disorders 73 70
Disorder of Eye Movements 12
Eye Movement Disorders 42
Eye Movement Disorder 12

Classifications:



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Disease Ontology 12 DOID:1279
ICD9CM 34 378.9
MeSH 44 D015835
SNOMED-CT 67 45030009
UMLS 70 C0028850

Summaries for Ocular Motility Disease

MedlinePlus : 42 When you look at an object, you're using several muscles to move both eyes to focus on it. If you have a problem with the muscles, the eyes don't work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder in which the two eyes don't line up in the same direction. This results in "crossed eyes" or "walleye." Nystagmus - fast, uncontrollable movements of the eyes, sometimes called "dancing eyes" Some eye movement disorders are present at birth. Others develop over time and may be associated with other problems, such as injuries. Treatments include glasses, patches, eye muscle exercises, and surgery. There is no cure for some kinds of eye movement disorders, such as most kinds of nystagmus.

MalaCards based summary : Ocular Motility Disease, also known as abnormality of eye movement, is related to x-linked infantile nystagmus and tukel syndrome, and has symptoms including ophthalmoplegia, hyperexplexia and eye manifestations. An important gene associated with Ocular Motility Disease is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Methamphetamine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related phenotypes are cellular and mortality/aging

Wikipedia : 73 Eye movement includes the voluntary or involuntary movement of the eyes, helping in acquiring, fixating... more...

Related Diseases for Ocular Motility Disease

Diseases related to Ocular Motility Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 x-linked infantile nystagmus 32.1 GPR143 FRMD7
2 tukel syndrome 32.0 TUBB2B ROBO3 PHOX2A KIF21A FRMD7 CHN1
3 suppression amblyopia 30.9 PHOX2A CHN1
4 amblyopia 30.8 PAX6 KIF21A CRYAA CHN1
5 torticollis 30.6 POLG CACNA1A
6 congenital nystagmus 30.6 PAX6 GPR143 FRMD7 CRYAA
7 pathologic nystagmus 30.6 ROBO3 PAX6 GPR143 FRMD7 CRYAA
8 exotropia 30.6 ROBO3 PHOX2A PAX6 KIF21A CRYAA CHN1
9 orbital disease 30.5 PHOX2A KIF21A CRYAA
10 dissociated nystagmus 30.5 ROBO3 FRMD7
11 fibrosis of extraocular muscles, congenital, 2 30.5 PHOX2A KIF21A
12 esotropia 30.5 TUBB2B ROBO3 PHOX2A PAX6 KIF21A FRMD7
13 vestibular nystagmus 30.5 FRMD7 CACNA1A
14 autosomal dominant cerebellar ataxia 30.5 TWNK POLG CRYAA CACNA1A ATXN7
15 ptosis 30.5 TYMP TWNK RYR1 POLG PHOX2A PAX6
16 hypertropia 30.4 ROBO3 PHOX2A KIF21A CHN1
17 keratitis, hereditary 30.4 PHOX2A PAX6 KIF21A CRYAA
18 hypotropia 30.3 ROBO3 PHOX2A KIF21A FRMD7 CHN1
19 peripheral nervous system disease 30.3 TWNK RYR1 POLG KIF21A CRYAA
20 kearns-sayre syndrome 30.2 TYMP TWNK SLC25A4 POLG2 POLG PHOX2A
21 3-methylglutaconic aciduria, type iii 30.1 TYMP TWNK SLC25A4 POLG2 POLG ATXN7
22 strabismus 29.4 VANGL2 VANGL1 TUBB2B ROBO3 PHOX2A PAX6
23 brown's tendon sheath syndrome 11.5
24 supranuclear eye movement disorder 11.2
25 gaucher's disease 11.0
26 distal chromosome 18q deletion syndrome 11.0
27 duane retraction syndrome 1 10.9
28 wildervanck syndrome 10.9
29 duane retraction syndrome 2 10.9
30 duane retraction syndrome 3 with or without deafness 10.9
31 abnormal retinal correspondence 10.5 KIF21A CHN1
32 polg-related disorders 10.5 TWNK POLG
33 nystagmus 5, congenital, x-linked 10.5 GPR143 FRMD7
34 marcus gunn phenomenon 10.5 PHOX2A KIF21A
35 binocular vision disease 10.5 KIF21A CHN1
36 total spina bifida aperta 10.5 VANGL2 VANGL1
37 cervicothoracic spina bifida aperta 10.5 VANGL2 VANGL1
38 cervical spina bifida aperta 10.5 VANGL2 VANGL1
39 lumbosacral spina bifida aperta 10.5 VANGL2 VANGL1
40 thoracolumbosacral spina bifida aperta 10.5 VANGL2 VANGL1
41 upper thoracic spina bifida aperta 10.5 VANGL2 VANGL1
42 total spina bifida cystica 10.5 VANGL2 VANGL1
43 thoracolumbosacral spina bifida cystica 10.5 VANGL2 VANGL1
44 ametropic amblyopia 10.5 PHOX2A CHN1
45 lumbosacral spina bifida cystica 10.5 VANGL2 VANGL1
46 ataxia neuropathy spectrum 10.5 TWNK POLG
47 cervical spina bifida cystica 10.5 VANGL2 VANGL1
48 cervicothoracic spina bifida cystica 10.5 VANGL2 VANGL1
49 upper thoracic spina bifida cystica 10.5 VANGL2 VANGL1
50 congenital nystagmus 1 10.5 GPR143 FRMD7

Comorbidity relations with Ocular Motility Disease via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Ocular Motility Disease:



Diseases related to Ocular Motility Disease

Symptoms & Phenotypes for Ocular Motility Disease

UMLS symptoms related to Ocular Motility Disease:


ophthalmoplegia; hyperexplexia; eye manifestations; deficiencies of smooth pursuit movements; spasm of conjugate gaze; anomalies of divergence; pseudoophthalmoplegia; smooth pursuit deficiency

MGI Mouse Phenotypes related to Ocular Motility Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 CACNA1A CHN1 KIF21A PAX6 PHOX2A POLG
2 mortality/aging MP:0010768 10.25 ATXN7 CACNA1A CHN1 KIF21A PAX6 PHOX2A
3 nervous system MP:0003631 10.17 ANKRD6 ATXN7 CACNA1A CHN1 GPR143 KIF21A
4 muscle MP:0005369 9.97 ATXN7 CACNA1A CHN1 KIF21A PAX6 POLG
5 hearing/vestibular/ear MP:0005377 9.91 ANKRD6 PAX6 POLG ROBO3 VANGL1 VANGL2
6 normal MP:0002873 9.86 CACNA1A CHN1 KIF21A PAX6 POLG2 SLC25A4
7 respiratory system MP:0005388 9.76 CACNA1A PAX6 PHOX2A ROBO3 RYR1 TUBB2B
8 skeleton MP:0005390 9.61 ATXN7 FRMD7 PAX6 POLG RYR1 SLC25A4
9 vision/eye MP:0005391 9.28 ATXN7 CACNA1A CHN1 FRMD7 GPR143 KIF21A

Drugs & Therapeutics for Ocular Motility Disease

Drugs for Ocular Motility Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methamphetamine Approved, Illicit Phase 3 537-46-2 10836
2
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
3
rituximab Approved Phase 3 174722-31-7 10201696
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
7 Neurotransmitter Agents Phase 3
8 Central Nervous System Stimulants Phase 3
9 Dopamine Agents Phase 3
10 Dopamine Uptake Inhibitors Phase 3
11 Adrenergic Agents Phase 3
12 Sympathomimetics Phase 3
13 Immunosuppressive Agents Phase 3
14 Hormones Phase 3
15 Alkylating Agents Phase 3
16 Hormone Antagonists Phase 3
17 Immunologic Factors Phase 3
18 glucocorticoids Phase 3
19 Antineoplastic Agents, Hormonal Phase 3
20 Anti-Inflammatory Agents Phase 3
21 Antirheumatic Agents Phase 3
22 Antineoplastic Agents, Immunological Phase 3
23
protease inhibitors Phase 3
24 Gastrointestinal Agents Phase 3
25 Antiemetics Phase 3
26 HIV Protease Inhibitors Phase 3
27 BB 1101 Phase 3
28
4-Aminopyridine Approved Phase 2 504-24-5 1727
29
Carmustine Approved, Investigational Phase 2 154-93-8 2578
30
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
31
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
32
Melphalan Approved Phase 2 148-82-3 4053 460612
33
Etoposide Approved Phase 2 33419-42-0 36462
34
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
35
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
36
Cortisone Experimental Phase 2 53-06-5 222786
37 Potassium Channel Blockers Phase 2
38 Anti-Infective Agents Phase 2
39 Tubulin Modulators Phase 2
40 Etoposide phosphate Phase 2
41 Antimitotic Agents Phase 2
42 Antilymphocyte Serum Phase 2
43 Dermatologic Agents Phase 2
44 Antimetabolites Phase 2
45 Antiviral Agents Phase 2
46 Podophyllotoxin Phase 2 518-28-5
47 Nitrogen Mustard Compounds Phase 2
48 Thymoglobulin Phase 2
49 Keratolytic Agents Phase 2
50
L-Alanine Nutraceutical Phase 2 56-41-7 5950

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Convergence Insufficiency Treatment Trial (CITT) Unknown status NCT00338611 Phase 3
2 A Randomized Clinical Trial of the Effectiveness of Base-in Prism Reading Glasses Vs. Placebo Reading Glasses for Symptomatic Convergence Insufficiency in Children Completed NCT00347581 Phase 3
3 A Randomized Clinical Trial of Pencil Push-Ups Versus Office Based Vision Therapy For the Treatment of Convergence Insufficiency Completed NCT00347945 Phase 3
4 Convergence Insufficiency Treatment Trial - Attention and Reading Trial (CITT-ART) Active, not recruiting NCT02207517 Phase 3
5 Multinational European Trial for Children With the Opsoclonus Myoclonus Syndrome / Dancing Eye Syndrome Active, not recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
6 Interventions for Convergence Insufficiency in Concussed Children (ICONICC) Not yet recruiting NCT03908112 Phase 3
7 Comparison of Three Vision Therapy Approaches for Convergence Insufficiency Unknown status NCT03431454 Phase 2
8 A Phase I Clinical Trial of Rituximab for Pediatric Opsoclonus-Myoclonus Syndrome Completed NCT00244361 Phase 1, Phase 2 rituximab
9 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Completed NCT02391961 Phase 2 Dalfampridine;Placebo
10 High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases Recruiting NCT00716066 Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan;Prednisone
11 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Terminated NCT00202930 Phase 2 anti-CD20 (Rituximab)
12 Oculomotor Training Improves Reading Eye Movement Completed NCT02981875
13 Evaluation and Treatment Protocol for Patients With Pediatric Eye Diseases and Strabismus Completed NCT00006422
14 Effectiveness of Home-Based Therapy for Symptomatic Convergence Insufficiency Completed NCT01515943
15 Functional Neural Mechanism of Vision Therapy for Patients With Convergence Insufficiency Completed NCT03593031
16 A School-based Intervention to Diagnose and Treat Vision Problems in Elementary School Children With Reading Difficulty Completed NCT02607384
17 A Prospective Observational Study of Adult Strabismus Completed NCT02510040
18 Treatment for Convergence Insufficiency Intermittent Exotropia; A Randomized Trial Completed NCT01435876
19 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
20 Frontoparietal Priority Maps as Biomarkers for MTBI Completed NCT02251002
21 Eyetracking and Neurovision Rehabilitation of Oculomotor Dysfunction in Mild Traumatic Brain Injury Completed NCT03319966
22 Study of Eyes and Attention Deficit (SEAD) Completed NCT00472511
23 Screening Eye Coordination Study Screening for Convergence Insufficiency in School-age Children Completed NCT00472407
24 Slanted Bilateral Lateral Rectus Recession Versus Conventional Bilateral Lateral Rectus Recession for Convergence Insufficiency Intermittent Exotropia in Children Recruiting NCT04064112
25 Objective Assessment of Disparity Vergence After Treatment of Symptomatic Convergence Insufficiency (CI) in Children Recruiting NCT03248336
26 Spectacles Lens in Concussed Kids Recruiting NCT03123822
27 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
28 The Development of an Artificial Intelligence Platform for Screening and Referral of Cognitive Dysfunction Not yet recruiting NCT04236375
29 Effectiveness of Vision Therapy in a Virtual Reality Headset Not yet recruiting NCT04691427 Early Phase 1

Search NIH Clinical Center for Ocular Motility Disease

Genetic Tests for Ocular Motility Disease

Genetic tests related to Ocular Motility Disease:

# Genetic test Affiliating Genes
1 Abnormality of Eye Movement 29

Anatomical Context for Ocular Motility Disease

MalaCards organs/tissues related to Ocular Motility Disease:

40
Eye, Brain, Pituitary, Cortex, Ovary, Thyroid

Publications for Ocular Motility Disease

Articles related to Ocular Motility Disease:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Bringing prevost's sign into the third dimension: Artificial intelligence estimation of conjugate gaze adjusted length (CGAL) and correlation with acute ischemic stroke. 42
33285711 2020
2
The Influence of COVID-19 Isolation on Physical Activity Habits and Its Relationship with Convergence Insufficiency. 42
33053701 2020
3
Inferior Oblique Overaction: The Results of Myectomy in Cases with a Primary Position Vertical Deviation Less and More Than 20 Prism Diopters. 42
32874045 2020
4
An Efficacy and Safety Study of Intra-arterial Recanalization of Occluded Ophthalmic Arteries in Patients with Monocular Blindness Caused by Injection of Hyaluronic Acid in Facial Tissues. 61
33770216 2021
5
Tendon elongation with bovine pericardium in strabismus surgery-indications beyond Graves' orbitopathy. 61
32949299 2021
6
Impact of visual impairment following stroke (IVIS study): a prospective clinical profile of central and peripheral visual deficits, eye movement abnormalities and visual perceptual deficits. 61
33347793 2020
7
Visual impairment and the prevalence of ocular pathology in homeless children and adults globally: a systematic review. 61
33098759 2020
8
[Ocular Motor Nerve Palsies Caused by Paragliding Accidents]. 61
32131125 2020
9
Binocular, Accommodative and Oculomotor Alterations In Multiple Sclerosis: A Review. 61
32228341 2020
10
Longstanding diplopia after ethmoidal artery ligation for epistaxis. 61
31667574 2020
11
Severe Acquired Restrictive Strabismus Fixus in Patients with Trisomy 21. 61
31584357 2019
12
[Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients]. 61
31133401 2019
13
Correlation between Intraocular Pressure and Thickness of Extraocular Muscles, the Severity and Activity of Thyroid-associated Orbitopathy. 61
31237847 2019
14
Causes and surgical treatment of diplopia and strabismus secondary to myasthenia gravis. 61
30580990 2019
15
Correction to: development of a core outcome set for amblyopia, strabismus and ocular motility disorders: a review to identify outcome measures. 61
30857536 2019
16
Development of a core outcome set for amblyopia, strabismus and ocular motility disorders: a review to identify outcome measures. 61
30736755 2019
17
Resting cerebral blood flow alterations specific to the comitant exophoria patients revealed by arterial spin labeling perfusion magnetic resonance imaging. 61
29991447 2018
18
Recurrent isolated oculomotor nerve palsy caused by schwannoma in a pediatric patient. 61
30127176 2018
19
Retinal and optic nerve degeneration in α-mannosidosis. 61
29859105 2018
20
[Four Cases of Wernicke's Encephalopathy Following Hematopoietic Stem Cell Transplantation]. 61
29950237 2018
21
A cohort study on acute ocular motility disorders in pediatric emergency department. 61
29843812 2018
22
Comparative Study of the Usefulness of the Binocular Spot Vision Screener Autorefractor in the Detection of Childhood Visual Disorders. 61
29590687 2018
23
Symptomatic accommodative and binocular dysfunctions from the use of flat-panel displays. 61
29600186 2018
24
Altered brain network centrality in patients with adult comitant exotropia strabismus: A resting-state fMRI study. 61
28679330 2018
25
Prevalence and severity of ocular involvement in Graves' disease according to sex and age: A clinical study from Babol, Iran. 61
29732037 2018
26
Clinical versus Evidence-based Rehabilitation Options for Post-stroke Visual Impairment. 61
29344068 2017
27
Vision In Stroke cohort: Profile overview of visual impairment. 61
29201538 2017
28
The atrophy of white and gray matter volume in patients with comitant strabismus: Evidence from a voxel-based morphometry study. 61
28713925 2017
29
[Clinical analysis of orbital and periorbital abscess in 17 patients]. 61
28851199 2017
30
Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders. 61
28033651 2017
31
Correlations between dental malocclusions, ocular motility, and convergence disorders: a cross-sectional study in growing subjects. 61
29285332 2017
32
Burden of Ocular Motility Disorders at a Tertiary Care Institution: A Case to Enhance Secondary Level Eye Care. 61
27051084 2016
33
Varicella zoster virus rhombencephalomyelitis following radiation therapy for oropharyngeal carcinoma. 61
26602800 2016
34
[Ocular Motility Disorders with Diplopia Like the first Symptoms of Paranasal Tumours with Orbital Invasion - a Case Report]. 61
27860481 2016
35
Microstructural changes of the whole brain in patients with comitant strabismus: evidence from a diffusion tensor imaging study. 61
27574432 2016
36
Progressive Multifocal Leukoencephalopathy: Recent Advances and a Neuro-Ophthalmological Review. 61
26132966 2015
37
Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome. 61
27800223 2015
38
Development of an interactive anatomical three-dimensional eye model. 61
25228501 2015
39
Controversies in orbital reconstruction--II. Timing of post-traumatic orbital reconstruction: a systematic review. 61
25543904 2015
40
[Congenital cranial dysinnervation disorders (CCDD)]. 61
25803556 2015
41
Medical and Surgical Treatment in Pediatric Orbital Myositis Associated with Coxsackie Virus. 61
26550508 2015
42
Brown syndrome with severe amblyopia: a case report from Africa. 61
26090014 2015
43
CCDD Phenotype Associated with a Small Chromosome 2 Deletion. 61
24475916 2015
44
Congenital and Genetic Ocular Motility Disorders: Update and Considerations. 61
26564928 2015
45
Myopia, visual acuity and strabismus in the long term following treatment of retinopathy of prematurity. 61
26022588 2014
46
[Oculomotor system and multiple sclerosis]. 61
25074654 2014
47
[Sclerotization of orbital lymphangioma with OK-432]. 61
24706253 2014
48
Reading networks in children with dyslexia compared to children with ocular motility disturbances revealed by fMRI. 61
25477808 2014
49
[Vertigo and dizziness. Ophthalmological addendum]. 61
23329118 2013
50
Ocular myasthenia gravis. 61
23047171 2012

Variations for Ocular Motility Disease

ClinVar genetic disease variations for Ocular Motility Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ND1 NC_012920.1:m.3670G>A SNV Uncertain significance 692386 rs1603219074 GRCh37: MT:3670-3670
GRCh38: MT:3670-3670
2 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) SNV Uncertain significance 807299 rs200983489 GRCh37: 15:83349398-83349398
GRCh38: 15:82680646-82680646
3 TTN NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) SNV Uncertain significance 202555 rs373355159 GRCh37: 2:179567225-179567225
GRCh38: 2:178702498-178702498
4 TTN-AS1 , TTN NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) SNV Uncertain significance 203056 rs368321767 GRCh37: 2:179401027-179401027
GRCh38: 2:178536300-178536300
5 TTN-AS1 , TTN NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) SNV Uncertain significance 203055 rs372304158 GRCh37: 2:179401042-179401042
GRCh38: 2:178536315-178536315

Expression for Ocular Motility Disease

Search GEO for disease gene expression data for Ocular Motility Disease.

Pathways for Ocular Motility Disease

Pathways related to Ocular Motility Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 TWNK SLC25A4 RYR1 CACNA1A

GO Terms for Ocular Motility Disease

Cellular components related to Ocular Motility Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 9.13 TWNK POLG2 POLG
2 gamma DNA polymerase complex GO:0005760 8.62 POLG2 POLG

Biological processes related to Ocular Motility Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.26 PAX6 GPR143 CRYAA ATXN7
2 mitochondrial genome maintenance GO:0000002 9.16 TYMP SLC25A4
3 mitochondrial DNA replication GO:0006264 8.8 TWNK POLG2 POLG

Molecular functions related to Ocular Motility Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 VANGL2 VANGL1 TYMP TUBB2B SLC25A4 RYR1

Sources for Ocular Motility Disease

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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