MCID: ESN011
MIFTS: 46

Eisenmenger Syndrome

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Eisenmenger Syndrome

MalaCards integrated aliases for Eisenmenger Syndrome:

Name: Eisenmenger Syndrome 20 58 54 17
Eisenmenger Complex 70

Characteristics:

Orphanet epidemiological data:

58
eisenmenger syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Belgium),1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 58  
Rare respiratory diseases


Summaries for Eisenmenger Syndrome

GARD : 20 Eisenmenger syndrome (ES) refers to the combination of a type of high blood pressure that affects the blood vessels of the lungs and heart ( pulmonary hypertension ), and abnormal blood flow through the heart. ES most often occurs in people who are born with a heart defect ( congenital heart defect ) that does not get repaired in childhood. The most common type of heart defect associated with Eisenmenger syndrome is a 'hole in the heart' or ventricular septal defect, but other types of heart defects can lead to Eisenmenger syndrome. The symptoms include blueish skin color (cyanosis), rounded fingers and toes (clubbing), and shortness of breath. The symptoms of ES typically get worse over time. Eisenmenger syndrome is not inherited in families. It is diagnosed based on the symptoms in a person with a heart defect that has not been repaired. Treatment for this syndrome includes medications for pulmonary hypertension and avoiding high-risk situations, such as pregnancy and high-altitudes. A heart-lung transplant is a treatment option for those who have severe ES.

MalaCards based summary : Eisenmenger Syndrome, also known as eisenmenger complex, is related to atrial heart septal defect and unilateral absence of a pulmonary artery. An important gene associated with Eisenmenger Syndrome is THBD (Thrombomodulin), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. The drugs Bosentan and Endothelin Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are pulmonary arterial hypertension and exercise intolerance

Related Diseases for Eisenmenger Syndrome

Diseases related to Eisenmenger Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 30.2 PLAT EDN1 BMPR2
2 unilateral absence of a pulmonary artery 29.9 VWF THBD
3 thrombosis 29.9 VWF THBD PLAT
4 platelet aggregation, spontaneous 29.8 VWF PLAT
5 tricuspid valve insufficiency 29.8 EDN1 BMPR2
6 hepatic veno-occlusive disease 29.8 THBD PLAT
7 central retinal vein occlusion 29.8 VWF PLAT
8 chronic thromboembolic pulmonary hypertension 29.7 EDN1 BMPR2
9 pulmonary hypertension 29.7 VWF THBD PLAT EDN1 BMPR2
10 pulmonary embolism 29.7 VWF THBD PLAT
11 mitral valve stenosis 29.5 VWF EDN1
12 angina pectoris 29.5 PLAT EDN1
13 pulmonary valve insufficiency 29.5 EDN1 BMPR2
14 disseminated intravascular coagulation 29.5 VWF THBD PLAT
15 thrombocytopenia 29.2 VWF THBD PLAT EDN1
16 heart disease 29.1 VWF THBD PLAT EDN1 BMPR2
17 vascular disease 29.0 VWF THBD PLAT EDN1 BMPR2
18 pre-eclampsia 28.8 VWF THBD PLAT EDN1
19 pulmonary hypertension, primary, 1 10.8
20 heart septal defect 10.8
21 ventricular septal defect 10.7
22 cyanosis, transient neonatal 10.6
23 patent ductus arteriosus 1 10.6
24 down syndrome 10.5
25 iron metabolism disease 10.3
26 pulmonary arterial hypertension associated with congenital heart disease 10.3
27 congestive heart failure 10.3
28 cardiac conduction defect 10.1
29 polycythemia 10.1
30 aortopulmonary window 10.1
31 purpura 10.1 VWF THBD
32 mercury poisoning 10.1 THBD PLAT
33 thrombotic microangiopathy 10.1 VWF THBD
34 tetralogy of fallot 10.1
35 atrioventricular septal defect 10.1
36 infective endocarditis 10.1
37 single ventricular heart 10.1
38 aneurysm 10.1
39 thyroid angiosarcoma 10.1 VWF THBD
40 carotid artery occlusion 10.1 THBD PLAT
41 dysfibrinogenemia, congenital 10.0 THBD PLAT
42 intracranial embolism 10.0 VWF PLAT
43 thrombophilia due to activated protein c resistance 10.0 VWF THBD
44 spotted fever 10.0 VWF THBD
45 carotid artery thrombosis 10.0 VWF PLAT
46 intracranial thrombosis 10.0 VWF PLAT
47 factor xi deficiency 10.0 VWF THBD
48 thrombophlebitis 10.0 VWF PLAT
49 collagen disease 10.0 VWF THBD
50 coronary thrombosis 10.0 VWF PLAT

Graphical network of the top 20 diseases related to Eisenmenger Syndrome:



Diseases related to Eisenmenger Syndrome

Symptoms & Phenotypes for Eisenmenger Syndrome

Human phenotypes related to Eisenmenger Syndrome:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002092
2 exercise intolerance 58 31 hallmark (90%) Very frequent (99-80%) HP:0003546
3 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
4 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 atrial fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0005110
6 hypoxemia 58 31 frequent (33%) Frequent (79-30%) HP:0012418
7 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
8 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
9 palpitations 58 31 frequent (33%) Frequent (79-30%) HP:0001962
10 increased pulmonary vascular resistance 58 31 frequent (33%) Frequent (79-30%) HP:0005317
11 supraventricular tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0004755
12 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
13 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
14 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
15 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
16 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
17 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
18 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
19 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
20 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
21 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
22 atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0006695
23 right bundle branch block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011712
24 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
25 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
26 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
27 elevated c-reactive protein level 58 31 occasional (7.5%) Occasional (29-5%) HP:0011227
28 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
29 pedal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010741
30 peripheral edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0012398
31 ventricular tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004756
32 hypochromic microcytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004840
33 iron deficiency anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001891
34 elevated jugular venous pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0030848
35 left-to-right shunt 58 31 occasional (7.5%) Occasional (29-5%) HP:0012382
36 right ventricular failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001708
37 clubbing 58 31 occasional (7.5%) Occasional (29-5%) HP:0001217
38 abnormal b-type natriuretic peptide level 58 31 occasional (7.5%) Occasional (29-5%) HP:0031138
39 right-to-left shunt 58 31 occasional (7.5%) Occasional (29-5%) HP:0001694
40 aortopulmonary window 58 31 occasional (7.5%) Occasional (29-5%) HP:0011604
41 hepatojugular reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0030849
42 renal insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0000083
43 hyperuricemia 58 31 very rare (1%) Very rare (<4-1%) HP:0002149
44 vertigo 58 31 very rare (1%) Very rare (<4-1%) HP:0002321
45 tetralogy of fallot 58 31 very rare (1%) Very rare (<4-1%) HP:0001636
46 stroke 58 31 very rare (1%) Very rare (<4-1%) HP:0001297
47 abnormal bleeding 58 31 very rare (1%) Very rare (<4-1%) HP:0001892
48 syncope 58 31 very rare (1%) Very rare (<4-1%) HP:0001279
49 bacterial endocarditis 58 31 very rare (1%) Very rare (<4-1%) HP:0006689
50 increased mean corpuscular volume 58 31 very rare (1%) Very rare (<4-1%) HP:0005518

MGI Mouse Phenotypes related to Eisenmenger Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 BMPR2 EDN1 PLAT THBD VWF
2 digestive/alimentary MP:0005381 9.26 EDN1 PLAT THBD VWF
3 nervous system MP:0003631 9.02 BMPR2 EDN1 PLAT THBD VWF

Drugs & Therapeutics for Eisenmenger Syndrome

Drugs for Eisenmenger Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
2 Endothelin Receptor Antagonists Phase 4
3 Antihypertensive Agents Phase 4
4
Sodium citrate Approved, Investigational Phase 3 68-04-2
5
Macitentan Approved Phase 3 441798-33-0
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
7 Vasodilator Agents Phase 3
8 Phosphodiesterase 5 Inhibitors Phase 3
9 Phosphodiesterase Inhibitors Phase 3
10 Citrate Phase 3
11 Sildenafil Citrate Phase 3 171599-83-0
12 Endothelin A Receptor Antagonists Phase 3
13
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
14
Allopurinol Approved 315-30-0 2094
15
Iron Approved 7439-89-6 23925 29936
16
Iloprost Approved, Investigational 78919-13-8 6443959
17
Epoprostenol Approved 35121-78-9, 61849-14-7 5282411 5280427
18
Tezosentan Investigational 180384-57-0
19 Antibiotics, Antitubercular
20 Anticoagulants
21 diuretics
22 Angiotensin-Converting Enzyme Inhibitors
23 Angiotensin Receptor Antagonists
24 Anti-Bacterial Agents
25 Vaccines
26 Platelet Aggregation Inhibitors

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Therapy of Pulmonary Arterial Hypertension (PAH) With Bosentan in Patients With Eisenmenger Syndrome Completed NCT00266162 Phase 4 Bosentan administration
2 A Multi-Center, Open-Label Extension Study to Protocol AC-052-405 to Evaluate the Safety and Efficacy of Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
3 A Multi-center, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effects of Tracleer (Bosentan) on Oxygen Saturation and Cardiac Hemodynamics in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
4 Combination Treatment With Bosentan and Sildenafil to Patients With Eisenmengers Syndrome Completed NCT00303004 Phase 3 Bosentan and Sildenafil
5 A Multi-center, Double-blind, Randomized, Placebo-controlled, Parallel-group, Phase 3 Study to Evaluate the Effects of Macitentan on Exercise Capacity in Subjects With Eisenmenger Syndrome Completed NCT01743001 Phase 3 Macitentan 10 mg;Placebo
6 Long Term, Single-arm, Open-label Extension Study of Protocol AC-055-305 to Assess the Safety, Tolerability and Efficacy of Macitentan in Subjects With Eisenmenger Syndrome Terminated NCT01739400 Phase 3 Macitentan 10 mg tablet, once daily.
7 Therapy of Pulmonary Arterial Hypertension (PAH) - Treatment With Sildenafil in Eisenmenger Patients Terminated NCT00586794 Phase 3 Sildenafil;Placebo
8 Clinical Efficacy of Phosphodiesterase-5 Inhibitor Tadalafil in Eisenmenger Syndrome - A Randomised, Placebo Controlled, Double Blind, Crossover Study Completed NCT01200732 Phase 2 Tadalafil, placebo
9 Applicability of the Six Minutes Walk Test and Shuttle Walk Test and Evaluation of Peripheral and Respiratory Muscle Function, Autonomic Control, Quality of Life and Sleep, Inflammatory Markers and Tissue Perfusion in Eisenmenger Syndrome Unknown status NCT02752399
10 Eisenmenger Syndrome in the Nordic Countries: Advanced Treatment and Mortality 1977-2012 Unknown status NCT01976533
11 Exercise Capacity and Quality of Life in Patients With Idiopathic Pulmonary Hypertension and Eisenmenger Syndrome Receiving Short Term Oral L-Citrulline Malate Unknown status NCT01683981 Early Phase 1 L-Citrulline Malate
12 Acute Effects of 40% Oxygen Supplementation Determined Better Exercise Capacity in Eisenmenger Syndrome Completed NCT02661802
13 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
14 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442
15 Study of the Effects of Inhaled Iloprost on Congenital Heart Disease With Eisenmenger Syndrome Completed NCT01283958
16 Treatment of Eisenmenger's Syndrome in Adults With Congenital Heart Disease With Pulmonary Arterial Vasodilators Completed NCT00266903
17 Eisenmenger Quality Enhancement Research Initiative Completed NCT01623492
18 Influence of Respiratory and Exercise Therapy on Oxygen Uptake, Quality of Life in Patients With Severe Associated Pulmonary Arterial Hypertension (APAH) as Part of a Congenital Heart Defect With / Without Eisenmenger's Syndrome Recruiting NCT01397110
19 Real World Difference After Changing Medication From Nonselective to Selective Endothelin Receptor Antagonist in Stable Eisenmenger Syndrome: Observational Study Not yet recruiting NCT04732650
20 Iloprost for the Treatment of Pulmonary Hypertension in Adults With Congenital Heart Disease Terminated NCT01319045 Iloprost

Search NIH Clinical Center for Eisenmenger Syndrome

Genetic Tests for Eisenmenger Syndrome

Anatomical Context for Eisenmenger Syndrome

MalaCards organs/tissues related to Eisenmenger Syndrome:

40
Heart, Lung, Brain, Endothelial, Liver, Spleen

Publications for Eisenmenger Syndrome

Articles related to Eisenmenger Syndrome:

(show top 50) (show all 766)
# Title Authors PMID Year
1
Eisenmenger syndrome: a rare malady that continues to fascinate. 61 20
28431027 2017
2
Factors influencing outcomes in patients with Eisenmenger syndrome: a nine-year follow-up study. 61 20
28704136 2017
3
Long-term behavior of endothelial and coagulation markers in Eisenmenger syndrome. 61 54
16708119 2006
4
Markers of endothelial dysfunction and severity of hypoxaemia in the Eisenmenger syndrome. 61 54
16164790 2005
5
Genetic deletion of CMG2 exacerbates systemic-to-pulmonary shunt-induced pulmonary arterial hypertension. 61
33749907 2021
6
BLTx Combined With Cardiac Correction in Treatment of PAH in Puerpera: Is It a Feasible Strategy? 61
32950491 2021
7
Management of Eisenmenger syndrome by cardiac defect closure combined bilateral lung transplantation with intraoperative venoarterial ECMO support. 61
33491222 2021
8
Simple equations to predict the effects of veno-venous ECMO in decompensated Eisenmenger syndrome. 61
33630406 2021
9
Clinical outcome of COVID-19 in patients with adult congenital heart disease. 61
33685931 2021
10
Brain abscess associated with ventricular septal defect and Eisenmenger syndrome: A case report. 61
33756163 2021
11
Idiopathic bilateral massive perirenal subcapsular effusion: The first case in the literature. 61
33730943 2021
12
Peripheral microangiopathy in Eisenmenger syndrome: A nailfold video capillaroscopy study. 61
33741426 2021
13
Oxygen and pulmonary arterial hypertension: effects, mechanisms, and therapeutic benefits. 61
33623970 2021
14
Thrombocytopaenia in cyanotic CHD. 61
33261686 2021
15
Hybrid retrieval of embolized device in abdominal aorta after transcatheter closure of large patent ductus arteriosus. 61
33665532 2021
16
Use of the Prostacyclin-Receptor Agonist Selexipag in Pulmonary Arterial Hypertension Associated with Eisenmenger Syndrome. 61
33539988 2021
17
Physical Functioning, Mental Health, and Quality of Life in Different Congenital Heart Defects: Comparative Analysis in 3538 Patients From 15 Countries. 61
32739453 2021
18
Use of gestational surrogates for women with Eisenmenger syndrome: a cost-effectiveness analysis. 61
31006283 2021
19
A Rare Case of Adult Aortopulmonary Window Combined with Anomalous Origin of the Right Pulmonary Artery from the Aorta Leading to Eisenmenger Syndrome. 61
33472471 2021
20
A 'Mille-Feuille'-like giant dissecting aneurysm of the pulmonary artery in Eisenmenger syndrome. 61
32594113 2021
21
Heart transplantation at a single tertiary adult congenital heart disease centre: Too little, too late? 61
32798622 2021
22
Patent foramen ovale and atrial septal defect. 61
33368546 2020
23
Transcatheter closure for patent ductus arteriosus in patients with Eisenmenger syndrome: to do or not? 61
33261574 2020
24
Contemporary use of Selexipag in pulmonary arterial hypertension associated with congenital heart disease: a case series. 61
33442633 2020
25
Eisenmenger syndrome: diagnosis, prognosis and clinical management. 61
32690623 2020
26
Not All Septal Defects Are Equal: Outcomes of Bilateral Lung Transplant With Cardiac Defect Repair vs Combined Heart-Lung Transplant in Patients With Eisenmenger Syndrome in the United States. 61
32565271 2020
27
Paracentral acute middle maculopathy associated with Eisenmenger syndrome. 61
32885576 2020
28
Cardiovascular Care for Pregnant Women With Cardiovascular Disease. 61
33121718 2020
29
Eisenmenger Syndrome in Pregnancy: A Management Conundrum. 61
32381307 2020
30
Clinical and hemodynamic effect of endothelin receptor antagonists in Eisenmenger Syndrome. 61
33311919 2020
31
Pregnancy and pulmonary arterial hypertension-improving surveillance and outcomes with multidisciplinary care and N terminal pro-brain natriuretic peptide trends. 61
33070681 2020
32
Congenital heart disease with pulmonary artery hypertension in an Asian cohort-initial report from TACHYON (TAiwan congenital heart disease associated with pulmonarY arterial hypertension) registry. 61
32522677 2020
33
Evolving Paradigms in the Treatment of Atrial Septal Defects with Pulmonary Arterial Hypertension (ASD-PAH). 61
32956165 2020
34
Pulmonary arterial hypertension: closing the gap in congenital heart disease. 61
32657834 2020
35
Pregnancy outcome in women with an uncorrected single ventricle: A single-centre experience from South India. 61
33093866 2020
36
Galectin-3 plasma levels in adult congenital heart disease and the pressure overloaded right ventricle: reason matters. 61
33021383 2020
37
Reversing Inoperability in Eisenmenger Syndrome: The "Drug-and-Banding" Approach. 61
32853073 2020
38
Focused Update on Pulmonary Hypertension in Children-Selected Topics of Interest for the Adult Cardiologist. 61
32825190 2020
39
[Dynamics of the clinical functional and hemodynamic profile of patients with pulmonary arterial hypertension with initial monotherapy with endothelin receptor antagonists: bosentan vs. macitentan]. 61
33155938 2020
40
Secundum Atrial Septal Defect With Early Presentation of Eisenmenger Syndrome and Right-Heart Failure: A Rare Case Report and Literature Review. 61
32775062 2020
41
Liver stiffness value obtained by point shear-wave elastography is significantly related with atrial septal defect size. 61
32558650 2020
42
Predicting the Risk of Adverse Events in Pregnant Women With Congenital Heart Disease. 61
32662348 2020
43
Caudal vena cava aneurysm in a cat with Eisenmenger Syndrome. 61
32418943 2020
44
Where on the Differential Is Eisenmenger Syndrome in a Patient Without Prior Cardiopulmonary Disease? 61
32656025 2020
45
99mTc-MAA total body imaging of patent right-to-left shunt with invisible brain activity. 61
32830205 2020
46
Pulmonary Hypertension in Adults with Congenital Heart Disease: Real-World Data from the International COMPERA-CHD Registry. 61
32414075 2020
47
[Risk factors for death and the clinical features of different subtypes of patients with pulmonary arterial hypertension related to congenital heart disease]. 61
32370483 2020
48
The COngenital HeARt Disease in adult and Pulmonary Hypertension (COHARD-PH) registry: a descriptive study from single-center hospital registry of adult congenital heart disease and pulmonary hypertension in Indonesia. 61
32264836 2020
49
Serum soluble suppression of tumorigenicity-2 level associates with severity of pulmonary hypertension associated with uncorrected atrial septal defect. 61
32518620 2020
50
A 26-Year-Old Woman with Worsening Dyspnea: Look Closer, Think Critically. 61
33282652 2020

Variations for Eisenmenger Syndrome

Expression for Eisenmenger Syndrome

Search GEO for disease gene expression data for Eisenmenger Syndrome.

Pathways for Eisenmenger Syndrome

GO Terms for Eisenmenger Syndrome

Cellular components related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.35 VWF THBD PLAT EDN1 BMPR2
2 cell surface GO:0009986 9.33 THBD PLAT BMPR2
3 Weibel-Palade body GO:0033093 8.62 VWF EDN1

Biological processes related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell migration GO:0010595 9.26 EDN1 BMPR2
2 hemostasis GO:0007599 9.16 VWF THBD
3 blood coagulation GO:0007596 9.13 VWF THBD PLAT
4 negative regulation of blood coagulation GO:0030195 8.62 THBD EDN1

Sources for Eisenmenger Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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