Aliases & Classifications for Raynaud Disease

MalaCards integrated aliases for Raynaud Disease:

Name: Raynaud Disease 53 12 41 14 69
Raynaud's Disease 12 40
Raynaud's Syndrome [ambiguous] 12
Secondary Raynaud's Phenomenon 69
Cold Fingers, Hereditary 53
Raynaud's Syndrome Nos 12
Raynaud's Syndrome 12
Raynaud Phenomenon 69
Raynauds Syndrome 51
Raynaud Syndrome 36
Raynaud's 59

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
raynaud disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 179600
Disease Ontology 12 DOID:10300
ICD10 32 I73.0
MeSH 41 D011928
MedGen 39 C0034734
KEGG 36 H01620
SNOMED-CT via HPO 65 263681008 266261006

Summaries for Raynaud Disease

MedlinePlus : 40 Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the blood vessels to narrow when you are cold or feeling stressed. When this happens, blood can't get to the surface of the skin and the affected areas turn white and blue. When the blood flow returns, the skin turns red and throbs or tingles. In severe cases, loss of blood flow can cause sores or tissue death. Primary Raynaud's happens on its own. The cause is not known. There is also secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are more likely to develop Raynaud's. It is also more common in women, people with a family history, and those over age 30. Treatment for Raynaud's may include drugs to keep the blood vessels open. There are also simple things you can do yourself, such as Soaking hands in warm water at the first sign of an attack Keeping your hands and feet warm in cold weather Avoiding triggers, such as certain medicines and stress NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Raynaud Disease, also known as raynaud's disease, is related to reynolds syndrome and papilledema, and has symptoms including abnormality of the skeletal system, raynaud phenomenon and joint or joint related complaint. An important gene associated with Raynaud Disease is CENPB (Centromere Protein B), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Fluid shear stress and atherosclerosis. The drugs Cilostazol and Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related phenotypes are cardiovascular system and mortality/aging

PubMed Health : 59
About raynaud's: Raynaud's is a rare disorder that affects the arteries. Arteries are blood vessels that carry blood from your heart to different parts of your body.Raynaud's sometimes is called a disease, syndrome, or phenomenon. The disorder is marked by brief episodes of vasospasm (VA-so-spazm), which is a narrowing of the blood vessels.Vasospasm of the arteries reduces blood flow to the fingers and toes. In people who have Raynaud's, the disorder usually affects the fingers. In about 40 percent of people who have Raynaud's, it affects the toes. Rarely, the disorder affects the nose, ears, nipples, and lips.

Wikipedia : 72 Raynaud syndrome, also known as Raynaud\'s phenomenon, is a medical condition in which spasm of arteries... more...

Description from OMIM: 179600

Related Diseases for Raynaud Disease

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 reynolds syndrome 11.2
2 papilledema 10.3 APOH IL1R1
3 pyoderma 10.2 APOH IL1R1
4 persistent fetal circulation syndrome 10.2 EDN1 PDE5A
5 intracranial thrombosis 10.2 APOH VWF
6 sexual disorder 10.2 EDN1 PDE5A
7 prothrombin deficiency 10.2 APOH THBD
8 unilateral absence of a pulmonary artery 10.2 THBD VWF
9 carotid artery occlusion 10.2 APOH THBD
10 scleroderma, familial progressive 10.1 EDN1 RNPC3
11 hepatopulmonary syndrome 10.1 EDN1 VWF
12 spotted fever 10.1 THBD VWF
13 placental abruption 10.1 APOH THBD
14 intermittent claudication 10.1 APOH VWF
15 limb ischemia 10.0 EDN1 VWF
16 aortic coarctation 10.0 AGTR1 EDN1
17 malignant hypertension 10.0 AGTR1 EDN1
18 optic nerve disease 10.0 EDN1 PDE5A
19 myocardial stunning 9.9 AGTR1 EDN1
20 eisenmenger syndrome 9.9 EDN1 THBD VWF
21 diabetic angiopathy 9.9 EDN1 THBD VWF
22 renal hypertension 9.9 AGTR1 EDN1
23 blood coagulation disease 9.9 THBD VWF
24 connective tissue disease 9.9 APOH CENPB RNPC3
25 thrombophilia due to activated protein c resistance 9.9 APOH THBD VWF
26 thrombotic thrombocytopenic purpura 9.9 APOH THBD VWF
27 thrombophilia due to thrombin defect 9.9 APOH THBD VWF
28 renovascular hypertension 9.9 AGTR1 EDN1
29 purpura 9.9 APOH THBD VWF
30 thrombosis 9.9 APOH THBD VWF
31 vasculitis 9.9 APOH THBD VWF
32 thrombophilia 9.9 APOH THBD VWF
33 acute mountain sickness 9.8 AGTR1 EDN1
34 impotence 9.8 EDN1 PDE5A
35 nonarteritic anterior ischemic optic neuropathy 9.7 AGTR1 EDN1 PDE5A
36 rheumatic disease 9.7 APOH CENPB IL1R1 RNPC3
37 portal hypertension 9.7 AGTR1 EDN1 VWF
38 arteries, anomalies of 9.7 AGTR1 EDN1 VWF
39 hellp syndrome 9.7 APOH EDN1 THBD VWF
40 vascular disease 9.6 APOH EDN1 THBD VWF
41 orthostatic intolerance 9.6 ADRA2C AGTR1 EDN1
42 migraine with or without aura 1 9.6
43 episodic pain syndrome, familial, 1 9.6
44 diabetes mellitus 9.6
45 malaria 9.6 EDN1 IL1R1 THBD VWF
46 buerger disease 9.6
47 pulmonary hypertension 9.6 EDN1 PDE5A THBD VWF
48 ischemic optic neuropathy 9.5 AGTR1 APOH EDN1 PDE5A
49 collagen disease 9.4 APOH CENPB EDN1 THBD VWF
50 heart disease 9.3 AGTR1 EDN1 PDE5A VWF

Comorbidity relations with Raynaud Disease via Phenotypic Disease Network (PDN):


Deficiency Anemia Esophagitis
Hypertension, Essential Hypothyroidism
Ischemic Heart Disease Peripheral Vascular Disease
Systemic Lupus Erythematosus Systemic Scleroderma

Graphical network of the top 20 diseases related to Raynaud Disease:



Diseases related to Raynaud Disease

Symptoms & Phenotypes for Raynaud Disease

Symptoms via clinical synopsis from OMIM:

53
Limbs:
intermittent attacks of numb and white fingers


Clinical features from OMIM:

179600

Human phenotypes related to Raynaud Disease:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 31 HP:0000924
2 raynaud phenomenon 31 HP:0030880

UMLS symptoms related to Raynaud Disease:


joint or joint related complaint, cold intolerance, symptoms, gastrointestinal gas, vertigo/dizziness, chronic pain, syncope, sciatica, pruritus, pelvic pain, pain, nausea and vomiting, icterus, heartburn, headache, halitosis, fever, fatigue, edema, dyspepsia, diarrhea, coughing, constipation, chest pain, angina pectoris, abdominal pain

MGI Mouse Phenotypes related to Raynaud Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 THBD VWF ADRA2C AGTR1 EDN1 IL1R1
2 mortality/aging MP:0010768 9.23 VWF ADRA2C AGTR1 APOH CENPB EDN1

Drugs & Therapeutics for Raynaud Disease

PubMedHealth treatment related to Raynaud Disease: 59

Primary Raynaud's (Raynaud's disease) and secondary Raynaud's (Raynaud's phenomenon) have no cure. However, treatments can reduce the number and severity of Raynaud's attacks. Treatments include lifestyle changes, medicines, and, rarely, surgery.Most people who have primary Raynaud's can manage the condition with lifestyle changes. People who have secondary Raynaud's may need medicines in addition to lifestyle changes. Rarely, they may need surgery or shots.If you have Raynaud's and develop sores on your fingers, toes, or other parts of your body, see your doctor right away. Timely treatment can help prevent permanent damage to these areas.

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
2 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2
3 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Anti-Asthmatic Agents Phase 4
5 Autonomic Agents Phase 4,Early Phase 1
6 Bronchodilator Agents Phase 4
7 Fibrinolytic Agents Phase 4
8 Neuroprotective Agents Phase 4,Early Phase 1
9 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Early Phase 1
10 Phosphodiesterase 3 Inhibitors Phase 4
11 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Early Phase 1
12 Protective Agents Phase 4,Early Phase 1
13 Respiratory System Agents Phase 4
14
Nitroglycerin Approved, Investigational Phase 3,Phase 2,Phase 1 55-63-0 4510
15
Acetylcholine Approved Phase 3,Phase 2 51-84-3 187
16
Tadalafil Approved, Investigational Phase 3,Phase 2 171596-29-5 110635
17
Iloprost Approved, Investigational Phase 3 78919-13-8 6443959
18
Nifedipine Approved Phase 3,Early Phase 1 21829-25-4 4485
19
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
20
Udenafil Approved, Investigational Phase 2, Phase 3 268203-93-6 6918523
21
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
22
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
23
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3, Early Phase 1 77-92-9 311
24 Fasudil Investigational Phase 3 103745-39-7
25 Antihypertensive Agents Phase 2, Phase 3,Early Phase 1
26 abobotulinumtoxinA Phase 3,Phase 2
27 Botulinum Toxins Phase 3,Phase 2
28 Botulinum Toxins, Type A Phase 3,Phase 2
29 Cholinergic Agents Phase 3,Phase 2
30 insulin Phase 3
31 Insulin, Globin Zinc Phase 3
32 Neuromuscular Agents Phase 3,Phase 2
33 Neurotransmitter Agents Phase 3,Phase 2
34 onabotulinumtoxinA Phase 3,Phase 2
35 Pharmaceutical Solutions Phase 3,Early Phase 1
36 Phosphodiesterase 5 Inhibitors Phase 2, Phase 3, Early Phase 1
37 Vardenafil Dihydrochloride Phase 2, Phase 3
38
Serotonin Phase 3 50-67-9 5202
39 calcium channel blockers Phase 3,Phase 2,Early Phase 1
40 Calcium, Dietary Phase 3,Phase 2,Early Phase 1
41 Tocolytic Agents Phase 3,Early Phase 1
42 Sildenafil Citrate Phase 2, Phase 3, Early Phase 1 171599-83-0
43 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine Phase 3
44 Protein Kinase Inhibitors Phase 3
45 Anticoagulants Phase 3
46 Chelating Agents Phase 3
47 Anesthetics Phase 2, Phase 3
48 Anesthetics, Local Phase 2, Phase 3
49 Central Nervous System Depressants Phase 2, Phase 3
50 Citrate Nutraceutical Phase 2, Phase 3, Early Phase 1

Interventional clinical trials:

(show top 50) (show all 62)

# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
2 Safety and Efficacy of Pletal(Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048763 Phase 4 Pletal
3 Study of a Topical Formulation for the Treatment and Prevention of Raynaud's Phenomenon Symptoms Unknown status NCT00934427 Phase 3 0.9% nitroglycerin in TAM cream;vehicle cream
4 A Study of a Topical Form of Nitroglycerin and Placebo in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
5 Efficacy of Botulinum Toxin In Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
6 Effects of Vardenafil on Clinical Symptoms and Peripheral Blood Flow in Patients With Raynaud's Syndrome Completed NCT01291199 Phase 2, Phase 3 vardenafil;Placebo
7 Randomised Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT00626665 Phase 3 Tadalafil
8 Phase III Study of Topical Gel for Treatment and Prevention of Raynaud's Phenomenon Completed NCT00266669 Phase 3 Topical organogel with nitroglycerin
9 St. John's Wort in the Treatment of Raynaud's Phenomenon Completed NCT00351117 Phase 3 St. John's Wort;Lactose
10 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
11 Lab Study of MQX-503 in Treatment of Raynaud's Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin
12 Raynaud's Treatment Study (RTS) Completed NCT00000530 Phase 3 nifedipine
13 Phase III Study of a Topical Gel Formulation for Treatment and Prevention of Raynaud's Phenomenon Completed NCT00419419 Phase 3 Topical AmphiMatrix with nitroglycerin (MQX-503)
14 "As Required" Oral Sildenafil in Raynaud's Phenomenon Completed NCT02050360 Phase 2, Phase 3 Sildenafil 40 mg;Sildenafil 80 mg;Placebo
15 Efficacy Study of PDE-5 Inhibitor and Calcium Channel Inhibitor for the Treatment of Secondary Raynaud Phenomenon Completed NCT01280266 Phase 2, Phase 3 Udenafil or Amlodipine
16 A Rho-kinase Inhibitor (Fasudil) in the Treatment of Raynaud's Phenomenon Completed NCT00498615 Phase 3 Fasudil
17 A Randomized Control Trial to Assess the Efficacy of Tadalafil in Raynaud's Phenomenon in Scleroderma Completed NCT01117298 Phase 3 Tadalafil;Placebo
18 Effect of Sildenafil on the Microcirculatory Blood Flow and Endothelial Progenitor Cells in Systemic Sclerosis Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
19 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
20 Safety and Efficacy Study of Gene Therapy Drug (Neovasculgen) to Treat Secondary Raynaud's Phenomenon Unknown status NCT02356809 Phase 1, Phase 2 Neovasculgen
21 Safety, Tolerability, and Pharmacodynamic Profile of Oral 2101 in Secondary Raynaud's Disease Completed NCT00528242 Phase 2 SLx-2101;Placebo
22 Dose Response Study of a Topical Formulation of Nitroglycerin for the Treatment of Raynaud's Phenomenon Completed NCT00480753 Phase 2 Nitroglycerin
23 Digital Flow Enhancement in Raynaud's Phenomenon With an sGC (Soluble Guanylate Cyclase) Stimulator Completed NCT01926847 Phase 2 Riociguat (Adempas, BAY63-2521);Placebo
24 Dose Response Study of a Topical Gel for the Treatment of Raynaud's Phenomenon Completed NCT00378521 Phase 2 MQX-503
25 Efficacy and Tolerability of Ginkgo Biloba Extract in Patients With Raynaud´s Phenomenon Completed NCT00251238 Phase 2 Ginkgo biloba extract EGb 761
26 PF-00489791 For The Treatment Of Raynaud's Completed NCT01090492 Phase 2 PF-00489791;PF-00489791;PF-00489791;PF-00489791;PF-00489791;PF-00489791;PF-00489791;PF-00489791
27 Study of Acute Peripheral Vascular Effects, Safety and Tolerability in Subjects With Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT02228850 Phase 2 Alprostadil
28 Efficacy and Safety of Vascana® in Subjects With Secondary Raynaud's Phenomenon Completed NCT02688270 Phase 2 Vascana (0.9% nitroglycerin cream);Vehicle (placebo)
29 Trial of IC351 in Female Scleroderma Patients With Raynaud's and Sexual Dysfunction Completed NCT00707187 Phase 2 Cialis
30 Effects of Selexipag in Adults With Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT02260557 Phase 2 Selexipag;Placebo
31 A Two-Part Study of BOTOX® Therapy for Ischemic Digits Active, not recruiting NCT01309802 Phase 2 onabotulinum toxin type-A
32 Early Treatment of Borderline Pulmonary Arterial Hypertension Associated With Systemic Sclerosis (SSc-APAH) Active, not recruiting NCT02290613 Phase 2 Ambrisentan;Placebo
33 Efficacy of ORM-12741 for Prevention of Raynaud's Phenomenon Terminated NCT01315899 Phase 2 ORM-12471 30mg;ORM-12471;placebo
34 Dose Response to Topical Glyceryl Trinitrate in Patients With Raynaud's Phenomenon Completed NCT00700518 Phase 1 placebo cream;Glyceryl Trinitrate;Glyceryl Trinitrate;Glyceryl Trinitrate;Glyceryl Trinitrate
35 MQX-503 Applied to the Hand Versus Nitroglycerin Ointment Applied to the Chest: A Pharmacokinetic Comparison Completed NCT00841594 Phase 1 nitroglycerin 0.9 % (MXQ-503);Nitroglycerin ointment 2%, USP
36 Prognostic Influence of Light Rheography Measurement of Patients With Secondary Raynaud Syndrome With Ulcers on Hands Unknown status NCT01378845 Tracleer;Prostavasin
37 PORH and Response to Cold in Raynaud's Phenomenon. Unknown status NCT02183779 L-NMMA and Fluconazole dermic injection
38 Psychopathology of Normal-tension Glaucoma in Hong Kong Chinese Out-patient Unknown status NCT00324181
39 Nova Cold Hands Raynaud's Disorder, a Disease Which Results in Decreased Blood Flow to the Hands and Feet. Completed NCT02615964
40 Soluble VE-cadherin and VE-cadherin Antibody in Sclerodermic Sclerosis Completed NCT02212249
41 Diosmiplex (Vasculera®) in Primary and Secondary Raynaud's Phenomenon Completed NCT02683408
42 Botulinum Toxin in the Treatment of Raynaud's Completed NCT01233999 botulinum toxin A
43 Laser Speckle Contrast Imaging for Cutaneous Microvascular Dysfunction Detection in Systemic Sclerosis. Completed NCT01743612
44 Acupressure for the Treatment of Raynaud's Phenomenon Completed NCT01784354
45 Tadalafil for the Treatment of Raynaud's Completed NCT00822354 Tadalafil
46 ADDICTAO: Psychological and Addictive Profile of Patients With Buerger's Disease Completed NCT01064206
47 Topical 10 % Nifedipine Versus 5% Sildenafil in Secondary Raynaud Completed NCT03027674 Early Phase 1 10% nifedipine cream;5% sildenafil cream
48 The Effect of Physical Therapy on Raynaud`s Phenomenon Secondary to Systemic Sclerosis Completed NCT00946738
49 Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft Completed NCT01133730 Active treatment;Placebo Arm
50 Metabolomic Analysis of Systemic Sclerosis Recruiting NCT02298777

Search NIH Clinical Center for Raynaud Disease

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: raynaud disease

Genetic Tests for Raynaud Disease

Anatomical Context for Raynaud Disease

MalaCards organs/tissues related to Raynaud Disease:

38
Heart, Lung, Skin, Bone, Endothelial

Publications for Raynaud Disease

Articles related to Raynaud Disease:

# Title Authors Year
1
Raynaud disease. ( 24211176 )
2014
2
Intraoral telangiectasias associated with Raynaud disease: a report of two cases. ( 19907728 )
2010
3
Improvement in both Raynaud disease and hyperhidrosis in response to botulinum toxin type A treatment. ( 18627700 )
2008
4
Long-term effects of thoracic sympathectomy on microcirculation in the hands of patients with primary Raynaud disease. ( 17532934 )
2007
5
Phosphodiesterase type 5 inhibition is a novel therapeutic option in Raynaud disease. ( 16432094 )
2006
6
Diabetes mellitus vs. Raynaud disease: different lung vascular bed disorders. ( 12505097 )
2002
7
Increased prevalence of migraine and chest pain in patients with primary Raynaud disease. ( 1586109 )
1992
8
Effect of indoramin on finger circulation in patients with Raynaud disease. ( 2423806 )
1986
9
Raynaud disease with oral manifestations. ( 1119826 )
1975

Variations for Raynaud Disease

Expression for Raynaud Disease

Search GEO for disease gene expression data for Raynaud Disease.

Pathways for Raynaud Disease

Pathways related to Raynaud Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 ADRA2C APOH PDE5A THBD VWF
2 11.27 EDN1 IL1R1 THBD
3 10.79 AGTR1 EDN1 THBD

GO Terms for Raynaud Disease

Cellular components related to Raynaud Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Weibel-Palade body GO:0033093 8.62 EDN1 VWF

Biological processes related to Raynaud Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.48 AGTR1 EDN1
2 hemostasis GO:0007599 9.46 THBD VWF
3 regulation of sensory perception of pain GO:0051930 9.43 ADRA2C EDN1
4 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway GO:0051482 9.4 AGTR1 EDN1
5 positive regulation of cardiac muscle hypertrophy GO:0010613 9.37 EDN1 PDE5A
6 blood coagulation, intrinsic pathway GO:0007597 9.32 APOH VWF
7 negative regulation of fibrinolysis GO:0051918 9.26 APOH THBD
8 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.16 APOH EDN1
9 regulation of vasoconstriction GO:0019229 9.13 ADRA2C AGTR1 EDN1
10 negative regulation of blood coagulation GO:0030195 8.8 APOH EDN1 THBD

Sources for Raynaud Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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