Aliases & Classifications for Refractive Error

MalaCards integrated aliases for Refractive Error:

Name: Refractive Error 12 15
Refractive Errors 54 42 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:9835
MeSH 43 D012030
NCIt 49 C87145
SNOMED-CT 67 21324001 39021009
ICD10 32 H52.7
UMLS 71 C0034951

Summaries for Refractive Error

MedlinePlus : 42 The cornea and lens of your eye helps you focus. Refractive errors are vision problems that happen when the shape of the eye keeps you from focusing well. The cause could be the length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens. Four common refractive errors are Myopia, or nearsightedness - clear vision close up but blurry in the distance Hyperopia, or farsightedness - clear vision in the distance but blurry close up Presbyopia - inability to focus close up as a result of aging Astigmatism - focus problems caused by the cornea The most common symptom is blurred vision. Other symptoms may include double vision, haziness, glare or halos around bright lights, squinting, headaches, or eye strain. Glasses or contact lenses can usually correct refractive errors. Laser eye surgery may also be a possibility. NIH: National Eye Institute

MalaCards based summary : Refractive Error, also known as refractive errors, is related to myopia and degenerative myopia, and has symptoms including visual disturbance, aniseikonia and eye manifestations. An important gene associated with Refractive Error is ZNF644 (Zinc Finger Protein 644). The drugs Cyclopentolate and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and endothelial, and related phenotype is nervous system.

Wikipedia : 74 Refractive error, also known as refraction error, is a problem with focusing light accurately onto the... more...

Related Diseases for Refractive Error

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

(show top 50) (show all 210)
# Related Disease Score Top Affiliating Genes
1 myopia 31.7 ZNF644 ZNF469 ZMAT4 SLC39A5 SIX6 SHISA6
2 degenerative myopia 30.2 ZNF644 SHISA6 SCO2 RASGRF1 PRSS56 GJD2
3 pilodental dysplasia with refractive errors 12.9
4 astigmatism 11.9
5 myopia 6 11.7
6 amblyopia 11.7
7 presbyopia 11.6
8 eye disease 11.6
9 esotropia 11.6
10 ametropic amblyopia 11.6
11 myopia 5, autosomal dominant 11.6
12 myopia 9 11.6
13 corneal disease 11.6
14 myopia 2, autosomal dominant 11.6
15 aniseikonia 11.6
16 myopia 3, autosomal dominant 11.6
17 myopia 17, autosomal dominant 11.6
18 myopia 7 11.6
19 myopia 12, autosomal dominant 11.6
20 myopia 14 11.6
21 myopia 15, autosomal dominant 11.6
22 myopia 19, autosomal dominant 11.6
23 ocular albinism 11.6
24 ectopia lentis et pupillae 11.4
25 myopia 21, autosomal dominant 11.4
26 myopia 22, autosomal dominant 11.4
27 myopia 23, autosomal recessive 11.4
28 myopia 24, autosomal dominant 11.4
29 myopia 25, autosomal dominant 11.4
30 fibrosis of extraocular muscles, congenital, 1 11.2
31 myopia 18, autosomal recessive 11.2
32 myopia 13, x-linked 11.2
33 myopia 26, x-linked, female-limited 11.2
34 myopia 1, x-linked 11.2
35 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 11.2
36 myopia 8 11.2
37 myopia 10 11.2
38 myopia 11, autosomal dominant 11.2
39 corneal dystrophy, congenital stromal 11.2
40 myopia 16, autosomal dominant 11.2
41 myopia 20, autosomal dominant 11.2
42 microphthalmia 11.2
43 anisometropia 10.9
44 strabismus 10.9
45 mechanical strabismus 10.9
46 suppression amblyopia 10.9
47 cycloplegia 10.9
48 farsightedness 10.8
49 cataract 10.8
50 yemenite deaf-blind hypopigmentation syndrome 10.8

Graphical network of the top 20 diseases related to Refractive Error:



Diseases related to Refractive Error

Symptoms & Phenotypes for Refractive Error

UMLS symptoms related to Refractive Error:


visual disturbance, aniseikonia, eye manifestations

MGI Mouse Phenotypes related to Refractive Error:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 BMP2 GJD2 KCNQ5 LAMA2 LRPAP1 MMP2

Drugs & Therapeutics for Refractive Error

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

(show top 50) (show all 184)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclopentolate Approved Phase 4 512-15-2 2905
2
Bevacizumab Approved, Investigational Phase 4 216974-75-3
3
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
4
Ephedrine Approved Phase 4 299-42-3 9294
5
Phenylephrine Approved Phase 4 59-42-7 6041
6
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
7
Pseudoephedrine Approved Phase 4 90-82-4 7028
8
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
9
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
10 Angiogenesis Inhibitors Phase 4
11 Antineoplastic Agents, Immunological Phase 4
12 Anti-Bacterial Agents Phase 4
13 Antibiotics, Antitubercular Phase 4
14 Mitomycins Phase 4
15 Alkylating Agents Phase 4
16 Nasal Decongestants Phase 4
17 Vasoconstrictor Agents Phase 4
18 Analgesics Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Anti-Inflammatory Agents, Non-Steroidal Phase 4
21 Cyclooxygenase Inhibitors Phase 4
22 Antirheumatic Agents Phase 4
23 Ketorolac Tromethamine Phase 4
24
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
25
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
26
Acetaminophen Approved Phase 3 103-90-2 1983
27
Codeine Approved, Illicit Phase 3 76-57-3 5284371
28
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
29
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
30
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
31
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
32
Fluorometholone Approved, Investigational Phase 2, Phase 3 426-13-1 9878
33
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
34
Polyestradiol phosphate Approved Phase 3 28014-46-2
35
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
36
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
37
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
38
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
39
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
40 Dermatologic Agents Phase 3
41 Trace Elements Phase 3
42 Vitamins Phase 3
43 Vitamin B Complex Phase 3
44 Micronutrients Phase 3
45 Nutrients Phase 3
46 Vitamin B9 Phase 3
47 Vitamin B2 Phase 3
48 Folate Phase 3
49 Photosensitizing Agents Phase 3
50 Central Nervous System Depressants Phase 3

Interventional clinical trials:

(show top 50) (show all 379)
# Name Status NCT ID Phase Drugs
1 A New More Efficient Cycloplegia Scheme Unknown status NCT02177539 Phase 4 Cyclopentolate;Cyclopentolate+tropicamide+phenylephrine
2 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
3 Comparative Study of the Safety and Effectiveness Between Off-Label Subconjunctival Bevacizumab and Mitomycin C in Glaucoma Filtering Surgery. Unknown status NCT00468429 Phase 4 Subconjunctival Bevacizumab
4 Comparative Study of Two Marketed Spherical Soft Contact Lenses Completed NCT01582789 Phase 4
5 Clinical Trial of Interventions for Visual Loss in Nursing Home Residents Completed NCT00348621 Phase 4
6 The Impact of Short Term Wearing Time on In Vivo and Ex Vivo Wettability Completed NCT00349063 Phase 4 Soft contact lens multipurpose disinfection regimen
7 Clinical Evaluation of Hydra-PEG (Polyethylene Glycol) Treatment (HPT) Treated Rigid Contact Lenses Made From Roflufocon D Completed NCT02553681 Phase 4
8 Evaluation of CooperVision Avaira Toric (Enfilcon A) Soft Contact Lens (Test) When Compared to Acuvue Advance Toric (Galyfilcon A) Soft Contact Lens (Control) Completed NCT01706770 Phase 4
9 Effect of Orthokeratology on Myopia Progression in Chinese Children Completed NCT02186184 Phase 4
10 Anterior Stromal Changes After PRK by Using Intraoperative Mitomicin C. Completed NCT00599950 Phase 4 Mitomycin C and Photorefractive keratectomy (PRK)
11 Effect of Contact Lens Wear on Immune Cell Density and Morphology of the Ocular Surface: A Laser In Vivo Confocal Microscopy Study Completed NCT01250925 Phase 4 ReNu MultiPlus® MultiPurpose Solution;OPTI-FREE® RepleniSH®;Clear Care®
12 Comparison of Ketorolac Tromethamine 0.4% and Nepafenac 0.1% for the Prevention of Cystoid Macular Edema After Phacoemulsification: Prospective Randomized Double-masked Study Completed NCT02084576 Phase 4 Nepafenac;Ketorolac
13 Efficacy, Tolerability and Comfort of GenTeal and GenTeal Gel, (0.3% Hypromellose) in the Pre- and Post- Operative Treatment of Patients Undergoing LASIK Surgery Completed NCT00598689 Phase 4 0.3% hypromellose
14 Spherical Aberration and Contrast Sensitivity in Eyes Implanted With Aspheric and Spherical Intraocular Lenses: Clinical Comparative Study Completed NCT00576485 Phase 4
15 A Prospective Study to Evaluate the Raindrop Near Vision Inlay in Presbyopes Implanted in Corneal Pockets With a Delayed or Non-Delayed Approach Suspended NCT03326869 Phase 4
16 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
17 Effects of Optical Blur on Performance and Comfort of Computer Users Unknown status NCT00318045 Phase 3
18 iDesign Aberrometer for the Refractive Treatment of Early Keratoconus Unknown status NCT02613780 Phase 3
19 Intrastromal Correction of Ametropia by a Femtosecond Laser Unknown status NCT00928122 Phase 3
20 A Randomised, Double-Masked Study to Compare The Safety and Efficacy of Bilateral 0.5%, 0.1% & 0.01% Atropine Treatment In Controlling Progression of Myopia In Children Unknown status NCT00371124 Phase 2, Phase 3 Atropine Eye drops
21 A Study Evaluating the Safety and Efficacy of the KXL System With vibeX Rapid (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes Having Keratoconus and Post LASIK Ectasia Unknown status NCT02638376 Phase 3
22 Prospective, Non-randomized, Unmasked, Multicenter Clinical Investigation of the Presbia Flexivue Microlens™ for the Improvement of Near Vision in Emmetropic Presbyopes Unknown status NCT02110472 Phase 3
23 A Prospective Study To Evaluate The Safety And Effectiveness Of The SUPRACOR Presbyopic Treatment Algorithm For Myopia And Myopic Astigmatism Using LASIK Unknown status NCT01404884 Phase 3
24 Effects of Different Add Powers on the Comfort and Productivity of Computer Users With Fixed or Free Head Movement Completed NCT00317525 Phase 3
25 A Prospective Study to Evaluate the Safety and Effectiveness of Wavefront-Guided LASIK Correction of Myopic Refractive Errors With the iDesign Advanced Wavescan Studio™ System and Star S4IR™ Excimer Laser Completed NCT01663363 Phase 3
26 Evaluation of the Performance of Non-molded Soft Contact Lenses Completed NCT00371787 Phase 3
27 Safety and Acceptability of Using a Rewetting Drop With Contact Lens Wear Completed NCT00691197 Phase 2, Phase 3
28 An Open-Labeled, Multi-Center, Randomized Investigation of the VISA (Comfilcon A) Silicone Hydrogel Soft (Hydrophilic) Contact Lens for Use in a 7 Day Extended Wear Regimen Completed NCT00597467 Phase 3
29 Contact Lenses With New UV-blocker Manufactured With Different Techniques Completed NCT03475875 Phase 2, Phase 3
30 Correction of Myopia Evaluation Trial 2 (COMET2): A Randomized Trial of the Effect of Progressive Addition Lenses Versus Single Vision Lenses on Low Myopia Associated With Large Accommodative Lags and Near Esophoria in Children Completed NCT00320593 Phase 3
31 A Prospective Study to Evaluate the Safety and Effectiveness of the Presbyopic LASIK Algorithm Completed NCT01322919 Phase 3
32 Prospective Evaluation of Radial Keratotomy (PERK) Study Completed NCT00000129 Phase 3
33 The Berkeley Orthokeratology Study Completed NCT00000123 Phase 3
34 The Prism Adaptation Study (PAS) Completed NCT00000121 Phase 3
35 Correction of Myopia Evaluation Trial (COMET) Completed NCT00000113 Phase 3
36 A Randomized Study of Codeine Plus Paracetamol Versus Placebo for PRK Post-operative Pain Completed NCT02625753 Phase 3 Codeine;paracetamol;placebo
37 A Multicenter, Double-blind, Randomized, Placebo-controlled Study of Weight-Reduction and/or Low Sodium Diet Plus Acetazolamide vs Diet Plus Placebo in Subjects With Idiopathic Intracranial Hypertension With Mild Visual Loss Completed NCT01003639 Phase 2, Phase 3 Acetazolamide;Placebo
38 Artisan Aphakia Lens for the Correction of Aphakia in Adults Recruiting NCT01547429 Phase 3
39 Effects of Corneal Anatomical Match Between Donor and Recipient During DALK Surgery on Final Visual and Refractive Outcomes in Patients With KCN: a Clinical Trial Recruiting NCT04130334 Phase 2, Phase 3
40 The Use of Intraoperative Mitomycin-C During Photorefractive Keratectomy and Its Effect on Postoperative Topical Steroid Requirements Recruiting NCT02030990 Phase 2, Phase 3 Mitomycin-C;Fluorometholone 1% topical ocular steroid
41 Randomized Clinical Trial of Bifocal Lenses Versus Computer-specific Progressive Addition Lenses on Symptoms and Performance on a Computer Terminated NCT00585026 Phase 3
42 Use of Intracameral Moxifloxacin for the Prevention of Acute Endophthalmitis Following Cataract Surgery: a Controlled and Randomized Clinical Trial Terminated NCT02770729 Phase 3 Moxifloxacin;No injection of moxifloxacin
43 Corneal Epithelium Repair and Therapy Using Autologous Limbal Stem Cell Transplantation Unknown status NCT02148016 Phase 1, Phase 2 Levofloxacin;Betamethasone;Limbal stem cells (LSCs)
44 Functional Effects of Epigallocatechingallate on Retinal Function in Glaucoma Unknown status NCT00476138 Phase 1, Phase 2 Epigallocatechin-gallate
45 Mechanical Versus Alcohol-Assisted Epithelial Debridement During Photorefractive Keratectomy: A Confocal Microscopic Clinical Trial Completed NCT00918697 Phase 2
46 Evaluation of Progression of Myopia in Children Treated With Vitamin B2 and Outdoor Sunlight Exposure Recruiting NCT03552016 Phase 2 Oral Riboflavin
47 Role of Pupil Centroid Shift Compensation on Lower and Higher Order Aberrations During Photorefractive Keratectomy: An Eye-to-Eye Study Recruiting NCT03844178 Phase 2 installation of Tetracaine 1%
48 Low-dose Atropine Eye Drops to Reduce Progression of Myopia in Children: a Multi-centre Placebo Controlled Randomised Trial in the United Kingdom Recruiting NCT03690089 Phase 2 Atropine Sulfate
49 Enhancement of Emmetropization in Hyperopic Infants Terminated NCT00574717 Phase 1, Phase 2
50 The Effect of Gabapentin (Neurentin) and Pregabalin (Lyrica) in Pain Reduction After Photorefractive Keratectomy Unknown status NCT01122004 Phase 1 Pregabalin;Pregabalin

Search NIH Clinical Center for Refractive Error

Cochrane evidence based reviews: refractive errors

Genetic Tests for Refractive Error

Anatomical Context for Refractive Error

MalaCards organs/tissues related to Refractive Error:

40
Eye, Testes, Endothelial, Retina, Brain, Cortex, Heart

Publications for Refractive Error

Articles related to Refractive Error:

(show top 50) (show all 9173)
# Title Authors PMID Year
1
Commonly Held Beliefs About Myopia That Lack a Robust Evidence Base. 42
31241603 2019
2
Effect of Cyclotorsion Compensation With a Novel Technique in Small Incision Lenticule Extraction Surgery for the Correction of Myopic Astigmatism. 42
31059579 2019
3
Efficacy and safety of interventions to control myopia progression in children: an overview of systematic reviews and meta-analyses. 42
31072389 2019
4
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. 54 61
17117407 2007
5
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. 61 54
11879142 2002
6
Optical mechanisms regulating emmetropisation and refractive errors: evidence from animal models. 61
31742789 2020
7
Optical changes and visual performance with orthokeratology. 61
31378996 2020
8
Optic nerve crush modulates refractive development of the C57BL/6 mouse by changing multiple ocular dimensions. 61
31672473 2020
9
Peripheral refraction and higher order aberrations. 61
31382321 2020
10
Effects of Immersive Virtual Reality Headset Viewing on Young Children: Visuomotor Function, Postural Stability, and Motion Sickness. 61
31377280 2020
11
National Eye Survey of Trinidad and Tobago (NESTT): prevalence, causes and risk factors for presenting vision impairment in adults over 40 years. 61
30914421 2020
12
Higher order aberrations, refractive error development and myopia control: a review. 61
31489693 2020
13
The influence of orthokeratology compression factor on ocular higher-order aberrations. 61
31264269 2020
14
Temporal trends in the prevalence of spectacle use and spectacle coverage in India. 61
31828848 2019
15
Use of spectacles for distance vision: coverage, unmet needs and barriers in a rural area of North India. 61
31830950 2019
16
Refractive status during pregnancy in the United States: results from NHANES 2005-2008. 61
31823061 2019
17
Ocular biometric parameters are associated with non-contact tonometry measured intraocular pressure in non-pathologic myopic patients. 61
31792850 2019
18
Visual impairment and unmet eye care needs among a Syrian pediatric refugee population in a Canadian city. 61
31836097 2019
19
Role of un-correction, under-correction and over-correction of myopia as a strategy for slowing myopic progression. 61
31854025 2019
20
Effect of Sequential Intrastromal Corneal Ring Segment Implantation and Corneal Collagen Crosslinking in Corneal Ectasia. 61
31833250 2019
21
Risk Factors for Dry Eye After Refractive Surgery. 61
31567630 2019
22
Correlations between ocular biometrics and refractive error: A systematic review and meta-analysis. 61
31386806 2019
23
Prevalence of myopic maculopathy in the German population: results from the Gutenberg health study. 61
31843792 2019
24
Daily axial length and choroidal thickness variations in young adults: Associations with light exposure and longitudinal axial length and choroid changes. 61
31639338 2019
25
Compliance and Predictors of Spectacle Wear in Schoolchildren and Reasons for Non-Wear: A Review of the Literature. 61
31181970 2019
26
Acute myopic shift in a patient with systemic lupus erythematosus. 61
31650089 2019
27
Seasonality of births in horizontal strabismus: comparison with birth seasonality in schizophrenia and other disease conditions. 61
30898179 2019
28
Brain abnormalities in infantile esotropia as predictor for consecutive exotropia. 61
31637944 2019
29
Refractive error outcomes after intravitreal ranibizumab for retinopathy of prematurity. 61
31802528 2019
30
Refractive outcome of intravitreal bevacizumab injection in comparison to spontaneous regression of retinopathy of prematurity (ROP). 61
31790628 2019
31
Implantation of Presbyopia-Correcting Intraocular Lenses Staged After Descemet Membrane Endothelial Keratoplasty in Patients With Fuchs Dystrophy. 61
31842037 2019
32
Vitreous Proteomics Provides New Insights into Antivascular Endothelial Growth Factor Therapy for Pathologic Myopia Choroid Neovascularization. 61
31718389 2019
33
Causes of Blindness among Syrian Refugees Living in Southeastern Turkey. 61
31272275 2019
34
Diagnostic Accuracy of Rapid Assessment of Avoidable Blindness (RAAB): a Population-based Assessment. 61
31846622 2019
35
Epidemiology of Childhood Blindness and Low Vision in Kinshasa-democratic Republic of the Congo. 61
31790319 2019
36
Thirty Year Projected Magnitude (to 2050) of Near and Distance Vision Impairment and the Economic Impact if Existing Solutions are Implemented Globally. 61
31810404 2019
37
Global-flash mfERG responses to local differences in spherical and astigmatic defocus across the human retina. 61
31808194 2019
38
Six-Year Incidence and Risk Factors for Age-Related Macular Degeneration in a Rural Chinese Population: The Handan Eye Study. 61
31790559 2019
39
Machine learning classifiers-based prediction of normal-tension glaucoma progression in young myopic patients. 61
31848786 2019
40
Is Myopia Associated with the Incidence and Progression of Diabetic Retinopathy? 61
31103525 2019
41
Visual impairment among adults in Saudi Arabia. 61
31802542 2019
42
Morphological changes of human crystalline lens in myopia. 61
31853387 2019
43
MRI of posterior eye shape and its associations with myopia and ethnicity. 61
31791940 2019
44
Refractive change in children with accommodative esotropia. 61
31806647 2019
45
The impact of vision screening in preschool children on visual function in the Swedish adult population. 61
31127702 2019
46
[Vision screening in children: Review of the literature]. 61
31733915 2019
47
Optical Coherence Tomography Normative Peripapillary Retinal Nerve Fiber Layer and Macular Data in Children 0-5 Years of Age. 61
31271744 2019
48
Extensive circumferential partial-thickness sclerectomy in eyes with extreme nanophthalmos and spontaneous uveal effusion. 61
30877130 2019
49
Ambient assisted living technologies for older adults with cognitive and physical impairments: a review. 61
31841201 2019
50
Health shock and preference instability: assessing health-state dependency of willingness-to-pay for corrective eyeglasses. 61
31696342 2019

Variations for Refractive Error

Expression for Refractive Error

Search GEO for disease gene expression data for Refractive Error.

Pathways for Refractive Error

GO Terms for Refractive Error

Biological processes related to Refractive Error according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.13 SIX6 LAMA2 BMP2
2 eye development GO:0001654 8.8 SLC39A5 SIX6 SCO2

Molecular functions related to Refractive Error according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinol dehydrogenase activity GO:0004745 8.62 RDH5 BMP2

Sources for Refractive Error

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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