EVR1
MCID: EXD008
MIFTS: 73

Exudative Vitreoretinopathy 1 (EVR1)

Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Exudative Vitreoretinopathy 1

MalaCards integrated aliases for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 58 30 6 74
Retinopathy of Prematurity 58 12 54 60 30 6 45 15 41 17 74
Retrolental Fibroplasia 12 77 54 60
Familial Exudative Vitreoretinopathy, Autosomal Dominant 25 30
Criswick-Schepens Syndrome 58 76
Evr1 58 76
Rop 54 60
Exudative Vitreoretinopathy, Familial, Autosomal Dominant 58
Autosomal Dominant Familial Exudative Vitreoretinopathy 76
Vitreoretinopathy, Exudative, Type 1 41
Vitreoretinopathy, Exudative 1 76
Fevr, Autosomal Dominant 58
Premature Retinopathy 12
Adfevr 25
Fevr 76

Characteristics:

Orphanet epidemiological data:

60
retinopathy of prematurity
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
onset in infancy or early childhood
slowly progressive disorder
some patients may be asymptomatic
absence of premature birth, low birthweight, and exposure to oxygen
genetic heterogeneity, see evr2 , evr3 , and evr4


HPO:

33
exudative vitreoretinopathy 1:
Onset and clinical course infantile onset slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance When using fluorescein angiography to determine clinical status, penetrance is reported to be 100% because all affected individuals have a sector of avascular peripheral retina [ober et al 1980]...

Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:13025
OMIM 58 133780
ICD9CM 36 362.20 362.21
MeSH 45 D012178
NCIt 51 C34982
SNOMED-CT 69 74277007
MESH via Orphanet 46 D012178
ICD10 via Orphanet 35 H35.1
UMLS via Orphanet 75 C0035344
Orphanet 60 ORPHA90050

Summaries for Exudative Vitreoretinopathy 1

OMIM : 58 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. (133780)

MalaCards based summary : Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to exudative vitreoretinopathy and retinal detachment, and has symptoms including hyperoxia An important gene associated with Exudative Vitreoretinopathy 1 is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are Focal Adhesion and Ras signaling pathway. The drugs Ketorolac and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are premature birth and small for gestational age

UniProtKB/Swiss-Prot : 76 Vitreoretinopathy, exudative 1: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.

Wikipedia : 77 Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a... more...

GeneReviews: NBK1147

Related Diseases for Exudative Vitreoretinopathy 1

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 1 Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 3 Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 7

Diseases related to Exudative Vitreoretinopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 32.1 ZNF408 PRSS23 NDP LRP5 FZD4 CTNNB1
2 retinal detachment 31.2 VEGFA NDP LRP5 FZD4 CTNNB1
3 skin hemangioma 30.9 VEGFA KDR FLT1
4 hemangioma 30.9 VEGFA KDR FLT1
5 norrie disease 30.9 FZD4 LRP5 NDP
6 retinal vascular disease 30.4 ZNF408 VEGFA NDP LRP5 KDR FZD4
7 coats disease 30.3 VEGFA NDP LRP5 KDR FZD4
8 microvascular complications of diabetes 5 30.1 VEGFA KDR IGF1 FLT1
9 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.1
10 exudative vitreoretinopathy 2, x-linked 11.1
11 exudative vitreoretinopathy 4 11.1
12 exudative vitreoretinopathy 3 11.1
13 exudative vitreoretinopathy 5 11.1
14 mental retardation with language impairment and with or without autistic features 11.0
15 microcephaly and chorioretinopathy, autosomal recessive, 1 11.0
16 cataract 10.4
17 myopia 10.4
18 leukocoria 10.4 NDP LRP5 FZD4
19 refractive error 10.4
20 retinal telangiectasia 10.4 VEGFA NDP FZD4
21 strabismus 10.4
22 sudden infant death syndrome 10.3
23 mechanical strabismus 10.3
24 osteoporosis-pseudoglioma syndrome 10.3 NDP LRP5 FZD4 CTNNB1
25 male reproductive organ cancer 10.3 CTNNB1 IGF1 VEGFA
26 angiokeratoma circumscriptum 10.3 VEGFA KDR FLT1
27 yemenite deaf-blind hypopigmentation syndrome 10.3
28 epithelioid hemangioendothelioma 10.3 VEGFA KDR FLT1
29 capillary hemangioma 10.3 VEGFA KDR FLT1
30 reproductive system disease 10.3 VEGFA IGF1 CTNNB1
31 vascular cancer 10.2 FLT1 KDR VEGFA
32 corneal neovascularization 10.2 FLT1 KDR VEGFA
33 placental insufficiency 10.2 FLT1 KDR VEGFA
34 bronchopulmonary dysplasia 10.2
35 hyperglycemia 10.2
36 angiosarcoma 10.2 FLT1 VEGFA KDR
37 glomeruloid hemangioma 10.2 VEGFA FLT1
38 gastrointestinal system cancer 10.2 VEGFA KDR CTNNB1
39 spinal muscular atrophy 10.2
40 muscular atrophy 10.2
41 endocrine gland cancer 10.2 VEGFA KDR CTNNB1
42 microvascular complications of diabetes 1 10.2 VEGFA IGF1 FLT1
43 incontinentia pigmenti 10.2
44 keratoconus 10.2
45 neuromyelitis optica 10.2
46 rickets 10.2
47 choroiditis 10.2
48 congenital toxoplasmosis 10.2
49 toxoplasmosis 10.2
50 neuromyelitis optica spectrum disorder 10.2

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 1:



Diseases related to Exudative Vitreoretinopathy 1

Symptoms & Phenotypes for Exudative Vitreoretinopathy 1

Human phenotypes related to Exudative Vitreoretinopathy 1:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
2 small for gestational age 60 33 hallmark (90%) Very frequent (99-80%) HP:0001518
3 blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000618
4 retinal arteriolar tortuosity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001136
5 tractional retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0007917
6 vitreous hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0007902
7 abnormal macular morphology 33 occasional (7.5%) HP:0001103
8 reduced visual acuity 33 HP:0007663
9 abnormality of the macula 60 Occasional (29-5%)
10 abnormality of the retinal vasculature 60 Very frequent (99-80%)
11 retinal detachment 33 HP:0000541
12 recurrent fractures 33 HP:0002757
13 subcapsular cataract 33 HP:0000523
14 retinal exudate 33 HP:0001147
15 peripheral retinal avascularization 33 HP:0007685
16 retinal neovascularization 33 HP:0030666
17 falciform retinal fold 33 HP:0001493
18 posterior vitreous detachment 33 HP:0001489
19 exudative vitreoretinopathy 33 HP:0030490

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
blindness
vitreous hemorrhage
decreased visual acuity
falciform retinal folds
vitreoretinal traction
more
Skeletal:
low bone density
increased fracture rate

Clinical features from OMIM:

133780

UMLS symptoms related to Exudative Vitreoretinopathy 1:


hyperoxia

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
2 cardiovascular system MP:0005385 10.21 CTNNB1 EPO FLT1 FZD4 IGF1 KDR
3 homeostasis/metabolism MP:0005376 10.18 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
4 hematopoietic system MP:0005397 10.17 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
5 endocrine/exocrine gland MP:0005379 10.11 ARHGAP1 ATP7B CD38 CTNNB1 FZD4 IGF1
6 embryo MP:0005380 10.08 ARHGAP1 CTNNB1 EPO FLT1 FZD4 KDR
7 immune system MP:0005387 10.07 ARHGAP1 ATP7B CD38 CTNNB1 EPO FLT1
8 integument MP:0010771 9.97 ARHGAP1 ATP7B CTNNB1 EPO FZD4 IGF1
9 muscle MP:0005369 9.85 ARHGAP1 ATP7B CTNNB1 EPO FLT1 FZD4
10 liver/biliary system MP:0005370 9.8 ARHGAP1 ATP7B CTNNB1 EPO KDR LRP5
11 normal MP:0002873 9.61 CTNNB1 EPO FLT1 FZD4 IGF1 INPP5J
12 pigmentation MP:0001186 9.02 ATP7B CTNNB1 FZD4 LRP5 NDP

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

Drugs for Exudative Vitreoretinopathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 263)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4,Phase 2 66635-83-4, 74103-06-3 3826
2
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 216974-75-3
3 Poractant alfa Approved Phase 4,Not Applicable 129069-19-8
4
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 57-83-0 5994
5
Caffeine Approved Phase 4,Phase 3,Phase 2,Not Applicable 58-08-2 2519
6
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 68-04-2
7
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
8
Indomethacin Approved, Investigational Phase 4,Phase 3,Phase 2 53-86-1 3715
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
11
Nitrous oxide Approved, Vet_approved Phase 4,Phase 3 10024-97-2 948
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Not Applicable 347396-82-1 459903
14
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
15
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 77-92-9 311
16
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
17 Ketorolac Tromethamine Phase 4,Phase 2
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Pulmonary Surfactants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Anesthetics Phase 4,Phase 3,Phase 2,Not Applicable
28 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
29 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Antineoplastic Agents, Immunological Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Nutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Respiratory System Agents Phase 4,Phase 3,Phase 2,Not Applicable
38 Omega 3 Fatty Acid Phase 4,Phase 3,Phase 2,Not Applicable
39 Olive Phase 4,Phase 3,Not Applicable
40 Caffeine citrate Phase 4,Phase 3,Phase 2,Not Applicable
41 Citrate Phase 4,Phase 2,Phase 3,Not Applicable
42 Anticoagulants Phase 4,Phase 3,Phase 2,Not Applicable
43 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Not Applicable
45 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Not Applicable
46 Chelating Agents Phase 4,Phase 2,Not Applicable
47 Purinergic P1 Receptor Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
48 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Anesthetics, Dissociative Phase 4
50 Anesthetics, Inhalation Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 288)
# Name Status NCT ID Phase Drugs
1 Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
2 Withholding Feeds During Red Blood Cell Transfusion and TRAGI Unknown status NCT02132819 Phase 4
3 Cpap at Delivery Room for Preterm Infants Unknown status NCT01024361 Phase 4
4 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
5 Sucrose Analgesia for the Reduction of Pain During Retinopathy of Prematurity Screening Completed NCT00921544 Phase 4
6 Anesthesia for Retinopathy of Prematurity Completed NCT01955135 Phase 4 Ketamine;Sevoflurane;propofol
7 Vascular Endothelial Growth Factor in Stage V ROP Completed NCT00500396 Phase 4
8 VEGF Levels in Aqueous, Vitreous and Subretinal Fluid in ROP Stage IV and V Completed NCT00563121 Phase 4
9 VEGF Concentrations After Intravitreal Bevacizumab vs Ranibizumab as a Treatment for Type 1 ROP Completed NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic
10 Vitamin A and Very Low Birthweight Babies (VitAL) Completed NCT00417404 Phase 4 Aquasol A;aquasol A
11 Early Versus Late Lactoferrin in Prevention of Neonatal Sepsis Completed NCT02959229 Phase 4 Lactoferrin;Placebo (for Lactoferrin)
12 OPTIMIST-A Trial: Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on CPAP Recruiting NCT02140580 Phase 4
13 Rate of Bronchopulmonary Dysplasia in Preterms Neonates: a Trial Comparing SMOFlipid and Medialipide Not yet recruiting NCT02853253 Phase 4
14 Randomized Controlled Trial of Vaginal Progesterone in Women With Threatened Preterm Labor Terminated NCT01286246 Phase 4 Vaginal progesterone;Placebo
15 MRI and Neurodevelopment in Preterm Infants Following Administration of High-Dose Caffeine Completed NCT00809055 Phase 4 Caffeine citrate
16 Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus in Very Premature Babies Withdrawn NCT00470743 Phase 4 Ibuprofen;Indomethacin
17 Personalized vs Standardized PN for Preterm Infants >1250g Not yet recruiting NCT03693287 Phase 4 Standardized-parenteral nutrition;Personalized-parenteral nutrition.
18 TRAP Intervention STudy: Early Versus Late Intervention for Twin Reversed Arterial Perfusion Sequence Recruiting NCT02621645 Phase 4
19 Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome Unknown status NCT00346814 Phase 2, Phase 3 intravitreal injection
20 The Early Treatment for Retinopathy of Prematurity Study (ETROP) Unknown status NCT00027222 Phase 2, Phase 3
21 Randomized Study of Pessary Versus Standard Management in Women With Increased Chance of Premature Birth Unknown status NCT00735137 Phase 3
22 Cysteine Supplementation in Critically Ill Neonates Unknown status NCT00254176 Phase 2, Phase 3
23 Duration of Antibiotics Treatment With Cefazolin and Clarithromycin in Women With Preterm Premature Rupture of Membrane Unknown status NCT01503606 Phase 3 Cefazolin;Clarithromycin;Cefazolin;Clarithromycin
24 Modulation of the Intestinal Flora With the Probiotic VIVOMIXX™ in Pregnant Women at Risk of Metabolic Complications Unknown status NCT02768818 Phase 3
25 A Fatty Acids Study in Preventing Retinopathy of Prematurity Completed NCT02760472 Phase 3 SMOFlipid;Clinoleic
26 Inositol to Reduce Retinopathy of Prematurity Terminated NCT01954082 Phase 3 myo-Inositol 5% Injection;Placebo
27 RAINBOW Study: RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity Completed NCT02375971 Phase 3 Ranibizumab
28 Safety and Efficacy of Propranolol in Newborns With Retinopathy of Prematurity Completed NCT01079715 Phase 2, Phase 3 Propranolol
29 Rainbow Extension Study Recruiting NCT02640664 Phase 3 Ranibizumab;Ranibizumab
30 Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity Completed NCT01203436 Phase 2, Phase 3
31 The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP) Completed NCT00000156 Phase 3
32 Inhaled Nitrous Oxide for Pain Relief During Eye Exam in the Pre-term Infant Completed NCT00623220 Phase 3
33 Surfactant Positive Airway Pressure and Pulse Oximetry Trial Completed NCT00233324 Phase 3 Surfactant;Supplemental oxygen with target saturation of 85 to 89%;Supplemental oxygen with target saturation of 91 to 95%
34 L-Thyroxine Supplementation for Preterm Newborns Less Than 32 Weeks of Gestation With Hypothyroxinemia Completed NCT01306227 Phase 3 L-Thyroxine;water
35 Premature Infants in Need of Transfusion (PINT) Completed NCT00182390 Phase 3
36 CLAIR -FO: Clinical Trial of Ophthalmic Insert Mydriasert® Versus Reference Treatment Terminated NCT00642135 Phase 3 Mydriasert®;phenylephrine and tropicamide eyedrops
37 Progesterone to Prevent Preterm Delivery Not yet recruiting NCT03428685 Phase 2, Phase 3 Dydrogesterone Oral Tablet;Placebo Oral Tablet
38 A Phase III Efficacy and Safety Study of Intravenous Retosiban Versus Placebo for Women in Spontaneous Preterm Labor Terminated NCT02377466 Phase 3 Retosiban IV infusion;Placebo IV infusion
39 Antibiotics Study in Preterm Premature Rupture of the Membranes Completed NCT01401179 Phase 3 cefazolin, erythromycin, clarithromycin
40 Lactoferrin Infant Feeding Trial - LIFT_Canada Recruiting NCT03367013 Phase 3
41 Pharmacokinetics, Safety and Efficacy Study of Recombinant Antithrombin Versus Placebo in Preterm Preeclampsia Completed NCT02059135 Phase 3
42 Inhaled Nitric Oxide to Prevent and Treat Bronchopulmonary Dysplasia Completed NCT01503801 Phase 2, Phase 3 Nitric Oxide
43 Vaginal Progesterone for the Prevention of Preterm Birth in Twins Not yet recruiting NCT03540225 Phase 3 Progesterone
44 Cervical Pessary vs Vaginal Progesterone in Preventing Preterm Birth Among Women Presenting With Short Cervix: An Open-label Randomized Controlled Trial Not yet recruiting NCT02470676 Phase 2, Phase 3 Progesterone
45 Sildenafil Therapy In Dismal Prognosis Early-Onset Intrauterine Growth Restriction Suspended NCT02442492 Phase 2, Phase 3 Sildenafil;Placebo
46 Oxygen Toxicity in the Resuscitation in Extremely Premature Infants Completed NCT00494702 Phase 3
47 High Dose Folic Acid Supplementation Throughout Pregnancy for Preeclampsia Prevention Completed NCT01355159 Phase 3 Folic Acid 4 mg;Placebo
48 A Randomized Trial to Prevent Congenital Cytomegalovirus (CMV) Active, not recruiting NCT01376778 Phase 3 CMV hyperimmune globulin
49 Comparison of Two Flow Rates of HHHFNC to Prevent Extubation Failure in Preterm Infants Recruiting NCT02681315 Phase 3
50 17OHP for Reduction of Neonatal Morbidity Due to Preterm Birth (PTB) in Twin and Triplet Pregnancies Completed NCT00163020 Phase 2, Phase 3 17-alpha-hydroxyprogesterone caproate injectable;Placebo

Search NIH Clinical Center for Exudative Vitreoretinopathy 1

Cochrane evidence based reviews: retinopathy of prematurity

Genetic Tests for Exudative Vitreoretinopathy 1

Genetic tests related to Exudative Vitreoretinopathy 1:

# Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 1 30 FZD4 LRP5
2 Retinopathy of Prematurity 30
3 Familial Exudative Vitreoretinopathy, Autosomal Dominant 30

Anatomical Context for Exudative Vitreoretinopathy 1

MalaCards organs/tissues related to Exudative Vitreoretinopathy 1:

42
Eye, Endothelial, Retina, Breast, Skin, Thyroid, Bone

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 2989)
# Title Authors Year
1
Bilateral Total Cataract After Intravitreal Bevacizumab Injection in Aggressive Posterior Retinopathy of Prematurity. ( 30907975 )
2019
2
Late-Onset Rhegmatogenous Retinal Detachment Secondary to Round Holes in Avascular Retina Following Retinopathy of Prematurity. ( 30910036 )
2019
3
Fierson WM; American Academy of Pediatrics Section on Ophthalmology; American Academy of Ophthalmology; American Association for Pediatric Ophthalmology and Strabismus; American Association of Certified Orthoptists. Screening Examination of Premature Infants for Retinopathy of Prematurity. Pediatrics. 2018;142(6):e20183061. ( 30824604 )
2019
4
Differential effects of the retinopathy of prematurity exam on the physiology of premature infants. ( 30755719 )
2019
5
Tailored vs Static Oxygen Saturation Targets to Prevent Retinopathy of Prematurity. ( 30763437 )
2019
6
Comparison of Biphasic vs Static Oxygen Saturation Targets Among Infants With Retinopathy of Prematurity. ( 30763441 )
2019
7
Delayed resolution of retinopathy of prematurity. ( 30772472 )
2019
8
Ocular outcomes and comorbidities in preterm infants enrolled for retinopathy of prematurity screening: A cohort study from western India. ( 30787528 )
2019
9
Three-dimensional pattern of extraretinal neovascular development in retinopathy of prematurity. ( 30790072 )
2019
10
Re: Fung et al.: Systemic effects of optos versus indirect ophthalmoscopy for retinopathy of prematurity screening (Ophthalmology. 2018;125:1829-1832). ( 30803524 )
2019
11
Ranibizumab injection and laser photocoagulation to treat type 1 retinopathy of prematurity after 40 weeks post menstrual age: a retrospective case series study. ( 30808338 )
2019
12
The Alexandria retinopathy of prematurity model (Alex-ROP): postnatal weight gain screening algorithm application in a developing country. ( 30809488 )
2019
13
The Accuracy of Digital Imaging in Diagnosis of Retinopathy of Prematurity in Iran: A Pilot Study. ( 30820285 )
2019
14
Retinopathy of prematurity in Africa: a systematic review. ( 30821627 )
2019
15
Short-term intraocular pressure changes after intravitreal injection of bevacizumab for retinopathy of prematurity. ( 30825009 )
2019
16
Posterior zone I retinopathy of prematurity: spectrum of disease and outcome after laser treatment. ( 30851780 )
2019
17
Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP): telemedicine-based examination after laser photocoagulation for treatment-warranted retinopathy of prematurity. ( 30867576 )
2019
18
Evaluation of computer-based retinopathy of prematurity (ROP) education for ophthalmology residents: a randomized, controlled, multicenter study. ( 30885809 )
2019
19
Management of Recurrent Retinopathy of Prematurity Following Anti-VEGF Injection. ( 30889257 )
2019
20
Temporal Profile of Retinopathy of Prematurity in Extremely Premature Compared to Premature Infants. ( 30889266 )
2019
21
Letter to the Editor: Fellow Eye Anti-VEGF 'Crunch' Effect in Retinopathy of Prematurity. ( 30893445 )
2019
22
Aggressive Posterior Retinopathy of Prematurity Treated with Intravitreal Bevacizumab: Late Period Fluorescein Angiographic Findings. ( 30895452 )
2019
23
Comparison of intravitreal bevacizumab injection and laser photocoagulation for type 1 zone II retinopathy of prematurity. ( 30899848 )
2019
24
Effect of Patients' Clinical Information on the Diagnosis of and Decision to Treat Retinopathy of Prematurity: Erratum. ( 30913141 )
2019
25
Can IL-33 and Endocan be New Markers for Retinopathy of Prematurity? ( 30914019 )
2019
26
A Spectrum of Regression Following Intravitreal Bevacizumab in Retinopathy of Prematurity. ( 30312578 )
2019
27
Foveal microvascular anomalies on optical coherence tomography angiography and the correlation with foveal thickness and visual acuity in retinopathy of prematurity. ( 30361765 )
2019
28
Comparison of clinical outcomes of intravitreal ranibizumab and aflibercept treatment for retinopathy of prematurity. ( 30397793 )
2019
29
Re: Nudleman et al.: Glaucoma after lens-sparing vitrectomy for advanced retinopathy of prematurity (Ophthalmology. 2018;125:671-675). ( 30577920 )
2019
30
Comparison of fluorescein angiographic findings in type 1 and type 2 retinopathy of prematurity with intravitreal bevacizumab monotherapy and spontaneous regression. ( 30604251 )
2019
31
Enteral Docosahexaenoic Acid and Retinopathy of Prematurity: A Randomized Clinical Trial. ( 30614004 )
2019
32
Reduced rate of treated retinopathy of prematurity after implementing lower oxygen saturation targets. ( 30617284 )
2019
33
Change in the incidence and severity of Retinopathy of Prematurity (ROP) in a Neonatal Intensive Care Unit in Northern India after 20 years: Comparison of two similar prospective cohort studies. ( 30623712 )
2019
34
The Association Between Retinopathy of Prematurity and Ocular Growth. ( 30640977 )
2019
35
One-year visual outcomes after laser for Type 1 prethreshold retinopathy of prematurity among very low birth weight neonates at a tertiary center in western India - A prospective cohort study. ( 30642206 )
2019
36
Prevalence of Severe Visual Disability Among Preterm Children With Retinopathy of Prematurity and Association With Adherence to Best Practice Guidelines. ( 30646195 )
2019
37
Gamma-Secretase Inhibitor, DAPT, Prevents the Development of Retinopathy of Prematurity in a Rat Model by Regulating the Delta-Like Ligand 4/Notch Homolog-1 (DLL4/Notch-1) Pathway. ( 30652694 )
2019
38
Fluorescein angiography of retinal vascular involution after intravitreal injection of ranibizumab for retinopathy of prematurity. ( 30662844 )
2019
39
Multifactorial contributions to WINROP to enhance prediction of severe retinopathy of prematurity. ( 30719759 )
2019
40
Early postnatal weight gain as a predictor for the development of retinopathy of prematurity. ( 28920494 )
2019
41
Propofol and fentanyl sedation for laser treatment of retinopathy of prematurity to avoid intubation. ( 28974135 )
2019
42
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF THE FOVEAL AVASCULAR ZONE IN CHILDREN WITH A HISTORY OF TREATMENT-REQUIRING RETINOPATHY OF PREMATURITY. ( 29190231 )
2019
43
Foveal Development in Infants Treated with Bevacizumab or Laser Photocoagulation for Retinopathy of Prematurity. ( 29103792 )
2018
44
Mutation spectrum of <i>NDP</i>, <i>FZD4</i> and <i>TSPAN12</i> genes in Indian patients with retinopathy of prematurity. ( 28982955 )
2018
45
A Pathogenic Relationship of Bronchopulmonary Dysplasia and Retinopathy of Prematurity? A Review of Angiogenic Mediators in Both Diseases. ( 29951473 )
2018
46
Sildenafil and Retinopathy of Prematurity in Preterm Infants with Bronchopulmonary Dysplasia. ( 29753546 )
2018
47
Correlation of Retinopathy of Prematurity with Bronchopulmonary Dysplasia. ( 29607416 )
2018
48
Chorioamnionitis as a risk factor for retinopathy of prematurity: An updated systematic review and meta-analysis. ( 30332485 )
2018
49
Nosocomial Cytomegalovirus Infection Resulting in Worsening of Retinopathy of Prematurity. ( 29127613 )
2018
50
Late exudative retinopathy after laser treatment for retinopathy of prematurity in a child with dyskeratosis congenita. ( 30170046 )
2018

Variations for Exudative Vitreoretinopathy 1

UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 1:

76 (show all 23)
# Symbol AA change Variation ID SNP ID
1 FZD4 p.Met105Val VAR_038947 rs80358284
2 FZD4 p.Met157Val VAR_038948 rs80358286
3 FZD4 p.Gly36Asp VAR_063921 rs80358281
4 FZD4 p.Glu40Gln VAR_063922 rs139401671
5 FZD4 p.His69Tyr VAR_063923 rs80358282
6 FZD4 p.Met105Thr VAR_063924 rs80358285
7 FZD4 p.Ile114Thr VAR_063925
8 FZD4 p.Cys181Arg VAR_063927 rs80358287
9 FZD4 p.Cys204Arg VAR_063929 rs80358288
10 FZD4 p.Cys204Tyr VAR_063930 rs106479406
11 FZD4 p.Met223Lys VAR_063931
12 FZD4 p.Ile256Val VAR_063932 rs104894223
13 FZD4 p.Trp335Cys VAR_063933 rs80358292
14 FZD4 p.Met342Val VAR_063934 rs80358293
15 FZD4 p.Arg417Gln VAR_063936 rs80358294
16 FZD4 p.Thr445Pro VAR_063937 rs80358297
17 FZD4 p.Gly488Asp VAR_063938 rs80358298
18 FZD4 p.Ser497Phe VAR_063939 rs80358300
19 FZD4 p.Gly525Arg VAR_063940
20 LRP5 p.Arg348Trp VAR_063948 rs132006503
21 LRP5 p.Asp381Asn VAR_076548 rs133227486
22 LRP5 p.Arg624Trp VAR_076549 rs989864153
23 LRP5 p.Tyr1517Cys VAR_076550 rs201030241

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF408 NM_024741.2(ZNF408): c.-214_-210delGAATC deletion Uncertain significance rs796065313 GRCh38 Chromosome 11, 46700834: 46700838
2 ZNF408 NM_024741.2(ZNF408): c.-214_-210delGAATC deletion Uncertain significance rs796065313 GRCh37 Chromosome 11, 46722384: 46722388
3 ZNF408 NM_024741.2(ZNF408): c.-111C> A single nucleotide variant Uncertain significance rs796065314 GRCh38 Chromosome 11, 46700937: 46700937
4 ZNF408 NM_024741.2(ZNF408): c.130C> T (p.Pro44Ser) single nucleotide variant Uncertain significance rs796065315 GRCh38 Chromosome 11, 46701476: 46701476
5 ZNF408 NM_024741.2(ZNF408): c.130C> T (p.Pro44Ser) single nucleotide variant Uncertain significance rs796065315 GRCh37 Chromosome 11, 46723026: 46723026
6 ZNF408 NM_024741.2(ZNF408): c.402A> G (p.Gln134=) single nucleotide variant Uncertain significance rs561320549 GRCh38 Chromosome 11, 46702993: 46702993
7 ZNF408 NM_024741.2(ZNF408): c.-111C> A single nucleotide variant Uncertain significance rs796065314 GRCh37 Chromosome 11, 46722487: 46722487
8 ZNF408 NM_024741.2(ZNF408): c.402A> G (p.Gln134=) single nucleotide variant Uncertain significance rs561320549 GRCh37 Chromosome 11, 46724543: 46724543
9 ZNF408 NM_024741.2(ZNF408): c.694A> G (p.Met232Val) single nucleotide variant Uncertain significance rs796065316 GRCh38 Chromosome 11, 46704394: 46704394
10 ZNF408 NM_024741.2(ZNF408): c.694A> G (p.Met232Val) single nucleotide variant Uncertain significance rs796065316 GRCh37 Chromosome 11, 46725944: 46725944
11 ZNF408 NM_024741.2(ZNF408): c.1850C> A (p.Thr617Asn) single nucleotide variant Uncertain significance rs547169524 GRCh38 Chromosome 11, 46705550: 46705550
12 ZNF408 NM_024741.2(ZNF408): c.1850C> A (p.Thr617Asn) single nucleotide variant Uncertain significance rs547169524 GRCh37 Chromosome 11, 46727100: 46727100
13 ZNF408 NM_024741.2(ZNF408): c.2145G> T (p.Glu715Asp) single nucleotide variant Uncertain significance rs796065317 GRCh38 Chromosome 11, 46705845: 46705845
14 ZNF408 NM_024741.2(ZNF408): c.2145G> T (p.Glu715Asp) single nucleotide variant Uncertain significance rs796065317 GRCh37 Chromosome 11, 46727395: 46727395
15 FZD4 NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del) deletion Pathogenic rs80358301 GRCh37 Chromosome 11, 86662314: 86662319
16 FZD4 NM_012193.3(FZD4): c.1479_1484delGTGGAT (p.Met493_Trp494del) deletion Pathogenic rs80358301 GRCh38 Chromosome 11, 86951272: 86951277
17 FZD4 NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs) deletion Pathogenic rs80358303 GRCh37 Chromosome 11, 86662296: 86662297
18 FZD4 NM_012193.3(FZD4): c.1501_1502delCT (p.Leu501Serfs) deletion Pathogenic rs80358303 GRCh38 Chromosome 11, 86951254: 86951255
19 FZD4 NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs80358294 GRCh37 Chromosome 11, 86662548: 86662548
20 FZD4 NM_012193.3(FZD4): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs80358294 GRCh38 Chromosome 11, 86951506: 86951506
21 FZD4 NM_012193.3(FZD4): c.1024A> G (p.Met342Val) single nucleotide variant Pathogenic rs80358293 GRCh37 Chromosome 11, 86662774: 86662774
22 FZD4 NM_012193.3(FZD4): c.1024A> G (p.Met342Val) single nucleotide variant Pathogenic rs80358293 GRCh38 Chromosome 11, 86951732: 86951732
23 FZD4 NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys) single nucleotide variant Pathogenic rs80358292 GRCh37 Chromosome 11, 86662793: 86662793
24 FZD4 NM_012193.3(FZD4): c.1005G> C (p.Trp335Cys) single nucleotide variant Pathogenic rs80358292 GRCh38 Chromosome 11, 86951751: 86951751
25 FZD4 NM_012193.3(FZD4): c.766A> G (p.Ile256Val) single nucleotide variant Pathogenic rs104894223 GRCh37 Chromosome 11, 86663032: 86663032
26 FZD4 NM_012193.3(FZD4): c.766A> G (p.Ile256Val) single nucleotide variant Pathogenic rs104894223 GRCh38 Chromosome 11, 86951990: 86951990
27 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
28 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh37 Chromosome 3, 41275268: 41275269
29 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh37 Chromosome 3, 41279558: 41279558
30 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh38 Chromosome 3, 41238067: 41238067
31 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644
32 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh38 Chromosome 3, 41239138: 41239153
33 subset of 15 genes:DLG2; FZD4 NC_000011.9: g.83315294_86755595del3440302 deletion Pathogenic GRCh37 Chromosome 11, 83315294: 86755595

Expression for Exudative Vitreoretinopathy 1

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 1.

Pathways for Exudative Vitreoretinopathy 1

Pathways related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 CTNNB1 FLT1 IGF1 KDR VEGFA
2
Show member pathways
12.61 CTNNB1 FLT1 IGF1 KDR VEGFA
3 12.61 CTNNB1 EPO FZD4 IGF1 LRP5 VEGFA
4
Show member pathways
12.53 CTNNB1 EPO FLT1 FZD4 IGF1 KDR
5
Show member pathways
12.3 FLT1 FZD4 IGF1 KDR LRP5
6
Show member pathways
12.27 ARHGAP1 FLT1 KDR VEGFA
7 12.05 CTNNB1 FZD4 LRP5 VEGFA
8 11.94 CTNNB1 FLT1 KDR VEGFA
9
Show member pathways
11.85 FLT1 KDR VEGFA
10 11.83 CTNNB1 FZD4 IGF1
11 11.78 ARHGAP1 CTNNB1 FZD4 LRP5
12 11.67 EPO FLT1 IGF1 VEGFA
13 11.66 CTNNB1 FZD4 IGF1 KDR VEGFA
14 11.63 CDKN1C CTNNB1 LRP5
15 11.58 CTNNB1 FLT1 KDR VEGFA
16 11.56 CDKN1C IGF1 VEGFA
17
Show member pathways
11.52 CTNNB1 FLT1 KDR VEGFA
18 11.48 ARHGAP1 CTNNB1 FZD4 LRP5
19 11.38 EPO IGF1 VEGFA
20 11.27 FLT1 KDR VEGFA
21 10.96 ARHGAP1 FLT1 KDR VEGFA
22 10.88 FLT1 KDR VEGFA
23 10.46 EPO FLT1 KDR VEGFA

GO Terms for Exudative Vitreoretinopathy 1

Cellular components related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.55 CD38 EPO FZD4 NDP VEGFA
2 Wnt signalosome GO:1990909 8.96 CTNNB1 LRP5
3 sorting endosome GO:0097443 8.62 ARHGAP1 KDR

Biological processes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.97 APELA EPO IGF1 NDP VEGFA
2 negative regulation of gene expression GO:0010629 9.92 CTNNB1 IGF1 KDR VEGFA
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 APELA EPO FLT1 KDR
4 angiogenesis GO:0001525 9.91 APELA FLT1 KDR VEGFA
5 positive regulation of cell migration GO:0030335 9.9 FLT1 IGF1 KDR VEGFA
6 Wnt signaling pathway GO:0016055 9.89 CTNNB1 FZD4 LRP5 NDP
7 kidney development GO:0001822 9.82 CDKN1C CTNNB1 VEGFA
8 positive regulation of DNA-binding transcription factor activity GO:0051091 9.81 CTNNB1 FZD4 NDP
9 positive regulation of angiogenesis GO:0045766 9.8 APELA FLT1 KDR VEGFA
10 positive regulation of MAPK cascade GO:0043410 9.78 CTNNB1 FLT1 IGF1 KDR
11 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 FLT1 IGF1 KDR
12 positive regulation of transcription, DNA-templated GO:0045893 9.76 CD38 CDKN1C CTNNB1 EPO FZD4 IGF1
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.75 EPO IGF1 VEGFA
14 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.73 FLT1 KDR VEGFA
15 negative regulation of apoptotic process GO:0043066 9.73 CD38 CTNNB1 EPO IGF1 KDR VEGFA
16 positive regulation of osteoblast differentiation GO:0045669 9.72 CTNNB1 IGF1 LRP5
17 canonical Wnt signaling pathway GO:0060070 9.67 CTNNB1 FZD4 LRP5 NDP
18 gastrulation with mouth forming second GO:0001702 9.65 CTNNB1 LRP5
19 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.65 FLT1 VEGFA
20 cardiac muscle fiber development GO:0048739 9.63 TCAP VEGFA
21 adult heart development GO:0007512 9.63 APELA TCAP
22 positive regulation of positive chemotaxis GO:0050927 9.62 KDR VEGFA
23 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.61 FLT1 KDR VEGFA
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 CTNNB1 LRP5 VEGFA
25 positive regulation of cell proliferation GO:0008284 9.56 CD38 CTNNB1 EPO FLT1 IGF1 KDR
26 retina vasculature morphogenesis in camera-type eye GO:0061299 9.54 FZD4 NDP
27 retinal blood vessel morphogenesis GO:0061304 9.52 FZD4 LRP5
28 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.51 KDR VEGFA
29 vascular endothelial growth factor signaling pathway GO:0038084 9.5 FLT1 KDR VEGFA
30 extracellular matrix-cell signaling GO:0035426 9.46 FZD4 NDP
31 vasculogenesis GO:0001570 9.02 APELA CTNNB1 FZD4 KDR VEGFA

Molecular functions related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt-activated receptor activity GO:0042813 9.16 FZD4 LRP5
2 hormone activity GO:0005179 9.13 APELA EPO IGF1
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 FLT1 KDR

Sources for Exudative Vitreoretinopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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