MCID: PLM037
MIFTS: 72

Pulmonary Hypertension

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Hypertension

MalaCards integrated aliases for Pulmonary Hypertension:

Name: Pulmonary Hypertension 40 12 74 6 42 3 15 37 62 71
Primary Pulmonary Hypertension 40 12 74 36 29 54 15 32
Idiopathic Pulmonary Arterial Hypertension 71
Idiopathic Pulmonary Hypertension 71
Hypertension, Pulmonary 44
Hypertension Pulmonary 54

Classifications:



External Ids:

Disease Ontology 12 DOID:14557 DOID:6432
KEGG 36 H01619
ICD9CM 34 416.0
MeSH 44 D006976
NCIt 50 C3120 C97119
SNOMED-CT 67 155328008 26174007
ICD10 32 I27.0 I27.20
UMLS 71 C0020542 C0152171 C3203102

Summaries for Pulmonary Hypertension

MedlinePlus : 42 Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. Symptoms of PH include Shortness of breath during routine activity, such as climbing two flights of stairs Tiredness Chest pain A racing heartbeat Pain on the upper right side of the abdomen Decreased appetite As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Pulmonary Hypertension, also known as primary pulmonary hypertension, is related to pulmonary venoocclusive disease and pulmonary hypertension, primary, 1, and has symptoms including angina pectoris, dyspnea and hemoptysis. An important gene associated with Pulmonary Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are TGF-beta signaling pathway and MicroRNAs in cancer. The drugs Morphine and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include Lung, heart and endothelial.

Disease Ontology : 12 A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.

CDC : 3 Pulmonary hypertension occurs when the pressure in the blood vessels leading from the heart to the lungs is too high. The heart pumps blood from the right ventricle to the lungs to get oxygen. Because the blood does not have to travel very far, the pressure in this side of the heart and in the artery taking blood from the right ventricle to the lungs is normally low-normally much lower than systolic or diastolic blood pressure. When the pressure in this artery gets too high, the arteries in the lungs can narrow and then the blood does not flow as well as it should resulting in less oxygen in the blood

KEGG : 36 Primary pulmonary hypertension (PPH) is a progressive disease characterised by raised pulmonary vascular resistance, which results in diminished right-heart function due to increased right ventricular afterload. PPH occurs most commonly in young and middle-aged women; mean survival from onset of symptoms is 2-3 years. Mutations in the type II bone morphogenetic protein (BMP) receptor (BMPR)-II are now considered to be the genetic basis for familial PPH and ~30% of cases of sporadic PPH. BMPs are members of the transforming growth factor beta superfamily and affect intracellular signalling via Smads and mitogen-activated protein kinases. It has been shown that missense mutations of cysteine residues in the extracellular or kinase domain of BMPR2 result in intracellular localisation of the mutated receptor and negligible Smad signalling.

PubMed Health : 62 About pulmonary hypertension: Pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), or PH, is increased pressure in the pulmonary arteries. These arteries carry blood from your heart to your lungs to pick up oxygen. PH causes symptoms such as shortness of breath during routine activity (for example, climbing two flights of stairs), tiredness, chest pain, and a racing heartbeat. As the condition worsens, its symptoms may limit all physical activity.

Wikipedia : 74 Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure within the arteries of... more...

Related Diseases for Pulmonary Hypertension

Diseases in the Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 1 Pulmonary Hypertension, Primary, Autosomal Recessive
Pulmonary Hypertension, Primary, 2 Pulmonary Hypertension, Primary, 3
Pulmonary Hypertension, Primary, 4 Rare Pulmonary Hypertension

Diseases related to Pulmonary Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1133)
# Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 33.3 TBX4 KCNK3 ENG EIF2AK4 CAV1 BMPR2
2 pulmonary hypertension, primary, 1 33.2 TBX4 PMS2 NOP58 KCNK3 ENG EIF2AK4
3 heritable pulmonary arterial hypertension 33.0 TBX4 KCNK3 ENG EIF2AK4 CAV1 BMPR2
4 pulmonary venoocclusive disease 1, autosomal dominant 32.5 EIF2AK4 BMPR2
5 pulmonary valve insufficiency 32.4 PMS2 KCNK3 BMPR2 ACVRL1
6 connective tissue disease 32.0 MIR22 MIR21 MIR17 BMPR2 ACVRL1
7 pulmonary arterial hypertension associated with congenital heart disease 31.9 TBX4 ENG CAV1 BMPR2
8 telangiectasis 31.9 ENG BMPR2 ACVRL1
9 arteriovenous malformation 31.7 ENG BMPR2 ACVRL1
10 hereditary hemorrhagic telangiectasia 31.7 ENG BMPR2 ACVRL1
11 idiopathic/heritable pulmonary arterial hypertension 31.5 NOP58 KCNK3 ENG CAV1 BMPR2 ACVRL1
12 hepatopulmonary syndrome 31.5 ENG BMPR2 ACVRL1
13 pulmonary arteriovenous malformation 31.2 ENG ACVRL1
14 primary biliary cholangitis 30.9 MIR451A MIR21 MIR20A MIR17
15 telangiectasia, hereditary hemorrhagic, type 2 30.9 ENG ACVRL1
16 hypertension, essential 30.5 MIR22 MIR21 MIR17 KCNK3 ENG CAV1
17 weber syndrome 30.5 ENG ACVRL1
18 leukemia, acute lymphoblastic 30.4 MIR451A MIR22 MIR21 MIR17 ENG CD28
19 disease by infectious agent 30.3 MIR22 MIR21 MIR17 CD28
20 glioma 30.2 MIR21 MIR20A MIR17 MALAT1
21 rectum cancer 30.2 MIR21 MIR20A MIR17
22 intestinal disease 30.1 MIR22 MIR21 MIR20A MIR17
23 leukemia, acute myeloid 29.7 MIR451A MIR22 MIR21 MIR17 MALAT1 CD28
24 chronic thromboembolic pulmonary hypertension 11.8
25 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 11.7
26 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 11.7
27 pulmonary hypertension, primary, 4 11.6
28 alveolar capillary dysplasia with misalignment of pulmonary veins 11.6
29 pulmonary hypertension, primary, 2 11.6
30 pulmonary hypertension, primary, 3 11.6
31 pulmonary hypertension, neonatal 11.6
32 pulmonary edema of mountaineers 11.4
33 pulmonary fibrosis, idiopathic 11.3
34 lymphedema and cerebral arteriovenous anomaly 11.3
35 patent ductus arteriosus 1 11.3
36 hypoxia 11.3
37 sickle cell disease 11.3
38 diaphragmatic hernia, congenital 11.3
39 eisenmenger syndrome 11.3
40 pulmonary hypertension owing to lung disease and/or hypoxia 11.2
41 pulmonary fibrosis 11.2
42 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency 11.2
43 cantu syndrome 11.2
44 rowley-rosenberg syndrome 11.2
45 pulmonary venoocclusive disease 2, autosomal recessive 11.2
46 lung disease 11.1
47 liver cirrhosis 11.1
48 ventricular septal defect 2 11.1
49 persistent fetal circulation syndrome 11.1
50 ventricular septal defect 1 11.1

Graphical network of the top 20 diseases related to Pulmonary Hypertension:



Diseases related to Pulmonary Hypertension

Symptoms & Phenotypes for Pulmonary Hypertension

UMLS symptoms related to Pulmonary Hypertension:


angina pectoris, dyspnea, hemoptysis, chest pain, edema, snoring, coughing

Drugs & Therapeutics for Pulmonary Hypertension

PubMed Health treatment related to Pulmonary Hypertension: 62

Pulmonary hypertension (PH) has no cure. However, treatment may help relieve symptoms and slow the progress of the disease. PH is treated with medicines, procedures, and other therapies . Treatment will depend on what type of PH you have and its severity. (For more information, go to "Types of Pulmonary Hypertension." )

Drugs for Pulmonary Hypertension (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 269)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 4 57-27-2 5288826
2
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
3
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
6
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
7
Clevidipine Approved, Investigational Phase 4 167221-71-8
8
Methazolamide Approved Phase 4 554-57-4 4100 5353756
9
Dalteparin Approved Phase 4 9005-49-6
10
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
11
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
14
Milrinone Approved Phase 4 78415-72-2 4197
15
Selexipag Approved Phase 4 475086-01-2
16
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
17
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
18
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
19
Macitentan Approved Phase 4 441798-33-0
20 Tezosentan Investigational Phase 4 180384-57-0
21 Analgesics Phase 4
22 Anesthetics, Local Phase 4
23 Vardenafil Dihydrochloride Phase 4
24 Narcotics Phase 4
25 Analgesics, Opioid Phase 4
26 Anesthetics, Intravenous Phase 4
27 Heparin, Low-Molecular-Weight Phase 4
28 Fibrinolytic Agents Phase 4
29 Thromboplastin Phase 4
30 Plasminogen Phase 4
31 Tissue Plasminogen Activator Phase 4
32 calcium heparin Phase 4
33 Anesthetics, Inhalation Phase 4
34 Anesthetics, General Phase 4
35 Anesthetics Phase 4
36 Cardiotonic Agents Phase 4
37 Phosphodiesterase 3 Inhibitors Phase 4
38 Anticoagulants Phase 4
39 Calcium, Dietary Phase 4
40 Chelating Agents Phase 4
41 Anticonvulsants Phase 4
42 Carbonic Anhydrase Inhibitors Phase 4
43 Endothelin A Receptor Antagonists Phase 4
44 Natriuretic Peptide, Brain Phase 4
45 Liver Extracts Phase 4
46
Calcium Nutraceutical Phase 4 7440-70-2 271
47
Udenafil Approved, Investigational Phase 3 268203-93-6 6918523
48
Citalopram Approved Phase 3 59729-33-8 2771
49
Iodine Approved, Investigational Phase 3 7553-56-2 807
50
Mannitol Approved, Investigational Phase 2, Phase 3 69-65-8 453 6251

Interventional clinical trials:

(show top 50) (show all 1093)
# Name Status NCT ID Phase Drugs
1 Hemodynamic Evaluation of Patients With Pulmonary Arterial Hypertension. Response to Sildenafil Treatment Unknown status NCT00483626 Phase 4 oral sildenafil
2 Intravenous Iron Treatment In Iron Deficient Patients With Idiopathic Pulmonary Arterial Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
3 A Double Blind, Placebo Controlled Trial of Oral Riociguat for Sarcoidosis Associated Pulmonary Hypertension Unknown status NCT02625558 Phase 4 Riociguat;Placebo
4 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease Unknown status NCT01116063 Phase 4 Inhaled iloprost
5 Comparison of Efficacy Different Treatment Regimens in Pulmonary Hypertension Secondary to Lung Disease and or Hypoxia Unknown status NCT01449253 Phase 4 Sildenafil;Bosentan
6 Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study. Unknown status NCT00637065 Phase 4 Bosentan;Placebo
7 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
8 Raising the Bars in the Treatment of Pulmonary Arterial Hypertension: Goal Oriented Strategy to Preserve Ejection Fraction Trial Unknown status NCT03236818 Phase 4 ERA and PDE-5I (Sildenafil, Tadalafil, Bosentan, Macitentan)
9 Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
10 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
11 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
12 Comparative Effect of Combined High Spinal and General Anaesthesia With General Anaesthesia Alone On Right Ventricular Function In Patients With Mitral Valvular Disease With Pulmonary Hypertension Unknown status NCT03013075 Phase 4 Bupivacaine heavy and Morphine;General Anesthetics
13 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
14 Combined Inhaled Nitric Oxide and Inhaled Prostacyclin After Cardiac Surgery for Heart Transplantation and for Left Ventricular Assist Device Placement Completed NCT01717209 Phase 4 Nitric Oxide;Prostacyclin
15 Randomised Cross-over Pilot Study to Determine the Effects of Isoflurane and Propofol on Pulmonary Vascular Resistance in Children With Pulmonary Hypertension. Completed NCT01212523 Phase 4 propofol and isoflurane
16 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) in Patients With Stable Pulmonary Arterial Hypertension: Safety, Efficacy and Treatment Satisfaction Completed NCT00373360 Phase 4 treprostinil sodium
17 Proof of Concept Study of Ranolazine in the Treatment of Pulmonary Hypertension Associated With Diastolic Left Ventricular Dysfunction Completed NCT02133352 Phase 4 Ranolazine
18 A Randomized, Double-blind, Placebo Controlled, Multi-center Study to Assess the Effect of Ranolazine on Outcomes in Subjects With Pulmonary Hypertension and Right Ventricular Dysfunction Accompanied by a Comparative Study of Cellular Metabolism in Subjects With Pulmonary Hypertension With and Without Right Ventricular Dysfunction Completed NCT01839110 Phase 4 Ranolazine;Placebo
19 A Randomized, Double-blind, Placebo Controlled, Multi-center Study to Assess the Effect of Ranolazine in Subjects With Pulmonary Hypertension and Right Ventricular Dysfunction Using Cardiovascular MRI Completed NCT02829034 Phase 4 Ranolazine;Placebo
20 Hypoventilation and High Altitude Chronic Polycythemia: Acetazolamide as a Possible Treatment Completed NCT00424970 Phase 4 acetazolamide
21 A Multicenter, Randomized, Parallel Placebo-Controlled Study of the Safety and Efficacy of Subcutaneous Remodulin® Therapy After Transition From Flolan® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
22 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
23 A Phase 3, Multi-center, Open-label Study To Investigate Safety, Efficacy, And Tolerability Of Sildenafil Citrate In Pediatric Patients With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
24 Echo Study - Characterization of LV Strain Patterns in Patients With Mildly Elevated PCWP and Pulmonary Hypertension Completed NCT01800292 Phase 4 sildenafil
25 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
26 Acute Effect of Recombinant Human Brain Natriuretic Peptide in Patients With Pulmonary Hypertension Associated With Acute Exacerbation of Chronic Pulmonary Disease Completed NCT02742909 Phase 4 rhBNP;placebo
27 Vasoreactivity Testing With Intravenous Sildenafil in Patients With Precapillary Pulmonary Hypertension (Treatment Optimisation Study) Completed NCT01889966 Phase 4 Sildenafil
28 Inhaled Iloprost for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
29 Oral Sildenafil in Persistent Pulmonary Hypertension of Neonates Secondary to Meconium Aspiration Syndrome: A Randomized Placebo Controlled Trial Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
30 Phase IV Study on the Effects of Sildenafil in Combination With Pulmonary Rehabilitation Program on Exercise Tolerance in Patients With COPD and Pulmonary Hypertension Completed NCT01055405 Phase 4 Sildenafil
31 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
32 A Randomized, Placebo Controlled, Single Center Clinical Trial for Evaluation of Efficacy and Safety of Sildenafil Administration in the Cardiac ICU Following Mitral Valve Surgery in Patients With Pulmonary Hypertension Completed NCT02378649 Phase 4 Sildenafil;Placebo
33 Acute Effects of a Single Dose of Sildenafil (20mg/40mg) on Pulmonary Haemodynamics and Gas Exchange at Rest and During Exercise in COPD Patients With Pulmonary Hypertension Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
34 Natrecor® (Nesiritide) as a Nitric Oxide Sparing Agent in Patients Undergoing Lung Transplantation Completed NCT00205426 Phase 4 Natrecor
35 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Pulmonary Arterial Hypertension Children Associated With Left to Right Shunt Congenital Heart Defect Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
36 A Phase 4, Placebo Controlled, Single-blind, Cross-over Safety Study to Evaluate the Effect of Optison on Pulmonary Artery Systolic Pressure (PASP) and Pulmonary Vascular Resistance (PVR) as Measured by Right Heart Catheterization Completed NCT00878878 Phase 4 Optison (Perflutren Protein-Type A Microspheres Injectable Suspension);Dextrose
37 Sildenafil for Improving Outcomes After Valvular Correction Completed NCT00862043 Phase 4 Sildenafil Citrate;Placebo
38 COMPASS 3: An Open-label, Multi-Center Study Employing a Targeted 6-Minute Walk Test (6-MWT) Distance Threshold Approach to Guide Bosentan-Based Therapy and to Assess the Utility of Magnetic Resonance Imaging (MRI) on Cardiac Remodeling Completed NCT00433329 Phase 4 Bosentan;Sildenafil
39 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®
40 A Multinational, Multicentre, Randomized, Double-blind Study To Assess The Efficacy And Safety Of Oral Sildenafil 20mg Tid Or Placebo When Added To Bosentan In The Treatment Of Subjects, Aged 18 Years And Above, With Pulmonary Arterial Hypertension (Pah) Completed NCT00323297 Phase 4 Bosentan;Bosentan;Sildenafil Citrate
41 Effects of Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Morbidity and Mortality in Symptomatic Patients With Pulmonary Arterial Hypertension - A Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel Group, Prospective, Event Driven Phase IV Study Completed NCT00303459 Phase 4 bosentan;placebo
42 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
43 An Open-label, Multicenter Study of Ambrisentan and a Phosphodiesterase Type-5 Inhibitor Combination Therapy in Subjects With Pulmonary Arterial Hypertension Who Have Demonstrated a Sub-Optimal Response to a Phosphodiesterase Type-5 Inhibitor Completed NCT00617305 Phase 4 Ambrisentan;Placebo;Sildenafil;Tadalafil
44 An Open-label Extension of Study AC-066A401 Investigating the Safety and Tolerability of ACT-385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
45 An Open-Label Uncontrolled Study of the Safety and Efficacy of Ambrisentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Completed NCT01338636 Phase 4 Ambrisentan
46 A Phase IV, Open-label, Randomized, Multicenter Study of the Safety, Tolerability,and Pharmacokinetics of ACT- 385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
47 An Open Label, Multi-center Study Evaluating the Safety of Long-term Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis® (Iloprost) in Subjects With Pulmonary Arterial Hypertension. Completed NCT00741819 Phase 4 Inhaled treprostinil
48 A 16 Week, Open Label, Multi-centre, Study to Evaluate the Safety, Tolerability and Pharmacodynamic Effects of a Rapid Dose Titration Regimen of Subcutaneous Remodulin® Therapy in Subjects With Pulmonary Arterial Hypertension (PAH) Completed NCT02847260 Phase 4 Remodulin
49 A Prospective, Randomized, International, Multicenter, Double-arm, Controlled, Open-label Study of Riociguat in Patients With Pulmonary Arterial Hypertension (PAH) Who Are on a Stable Dose of Phosphodiesterase-5 Inhibitors (PDE-5i) With or Without Endothelin Receptor Antagonist (ERA), But Not at Treatment Goal Completed NCT02891850 Phase 4 Riociguat (Adempas, BAY63-2521);Sildenafil;Tadalafil
50 A Prospective, Multicenter, Single-arm, Open-label, Phase 4 Study to Evaluate the Effects of Macitentan on Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Assessed by Cardiac Magnetic Resonance Imaging Completed NCT02310672 Phase 4 Macitentan

Search NIH Clinical Center for Pulmonary Hypertension

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Alprostadil
bosentan
Epoprostenol
Epoprostenol Sodium
Hydralazine
Hydralazine Hydrochloride
Nitroglycerin
Treprostinil

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pulmonary Hypertension cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: hypertension, pulmonary

Genetic Tests for Pulmonary Hypertension

Genetic tests related to Pulmonary Hypertension:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 29

Anatomical Context for Pulmonary Hypertension

MalaCards organs/tissues related to Pulmonary Hypertension:

40
Heart, Endothelial, Smooth Muscle, Lung, Liver, Bone, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pulmonary Hypertension:
# Tissue Anatomical CompartmentCell Relevance
1 Lung Pulmonary Capillary Plexus Affected by disease

Publications for Pulmonary Hypertension

Articles related to Pulmonary Hypertension:

(show top 50) (show all 30458)
# Title Authors PMID Year
1
Interleukin-6 modulates the expression of the bone morphogenic protein receptor type II through a novel STAT3-microRNA cluster 17/92 pathway. 54 61 47
19390056 2009
2
Morphologic and Functional Dual-Energy CT Parameters in Patients With Chronic Thromboembolic Pulmonary Hypertension and Chronic Thromboembolic Disease. 61 42
32991219 2020
3
Influence of Body Weight and Diabetes Mellitus in Patients With Pulmonary Hypertension. 42 61
32919617 2020
4
Clinical impact of echocardiography-defined pulmonary hypertension on the clinical outcome in patients with multiple myeloma. 61 42
33120856 2020
5
Susceptibility to chronic thromboembolic pulmonary hypertension may be conferred by miR-759 via its targeted interaction with polymorphic fibrinogen alpha gene. 61 47
20677013 2010
6
Dynamic changes in lung microRNA profiles during the development of pulmonary hypertension due to chronic hypoxia and monocrotaline. 61 47
20110569 2010
7
Effectiveness of human atrial natriuretic peptide supplementation in pulmonary edema patients using the pulse contour cardiac output system. 61 54
20376887 2010
8
[Prognostic value of assay of brain natriuretic peptide in patients with acute respiratory distress syndrome]. 54 61
20519078 2010
9
Role of urotensin II in health and disease. 54 61
20421634 2010
10
Emerging therapies for the treatment of pulmonary hypertension. 54 61
20216170 2010
11
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension. 61 54
20095988 2010
12
Placenta growth factor in sickle cell disease: association with hemolysis and inflammation. 54 61
20040765 2010
13
Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease. 54 61
19844076 2010
14
Phosphodiesterase type 5 inhibitors for high-altitude pulmonary hypertension: a meta-analysis. 54 61
20225909 2010
15
Sudden sensorineural hearing loss associated with vardenafil. 54 61
20030481 2010
16
B-type natriuretic peptide utilization as an adjunct to management in a case of conjoined twins with pulmonary hypertension. 54 61
20085871 2010
17
Pulmonary hemodynamic response to acute combination and monotherapy with sildenafil and brain natriuretic peptide in rats with monocrotaline-induced pulmonary hypertension. 54 61
19996941 2010
18
Genetic polymorphisms of the serotonin transporter, but not the 2a receptor or nitric oxide synthetase, are associated with pulmonary hypertension in chronic obstructive pulmonary disease. 54 61
19556740 2010
19
Brain natriuretic peptide in pulmonary arterial hypertension: biomarker and potential therapeutic agent. 61 54
20054445 2009
20
GDF5 and BMP2 inhibit apoptosis via activation of BMPR2 and subsequent stabilization of XIAP. 61 54
19782107 2009
21
Dichloroacetate treatment partially regresses established pulmonary hypertension in mice with SM22alpha-targeted overexpression of the serotonin transporter. 61 54
19679640 2009
22
Nitric oxide synthases in infants and children with pulmonary hypertension and congenital heart disease. 61 54
19912632 2009
23
Interaction between bone morphogenetic proteins and endothelin-1 in human pulmonary artery smooth muscle. 61 54
19786120 2009
24
Soluble guanylate cyclase agonists inhibit expression and procoagulant activity of tissue factor. 61 54
19592462 2009
25
A novel insight into the mechanism of pulmonary hypertension involving caveolin-1 deficiency and endothelial nitric oxide synthase activation. 54 61
20382348 2009
26
Expression of vasoactive intestinal peptide and related receptors in overcirculation-induced pulmonary hypertension in piglets. 61 54
19581838 2009
27
Brain natriuretic peptide in chronic thromboembolic pulmonary hypertension. 61 54
19468826 2009
28
Endothelin-1 across the lung circulation in patients with pulmonary arterial hypertension and influence of epoprostenol infusion. 61 54
19632577 2009
29
Chronic treatment with sildenafil stimulates Leydig cell and testosterone secretion. 54 61
19659904 2009
30
Effects of roflumilast, a phosphodiesterase-4 inhibitor, on hypoxia- and monocrotaline-induced pulmonary hypertension in rats. 54 61
19386793 2009
31
Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration. 54 61
19487814 2009
32
Intratracheal gene transfer of adrenomedullin using polyplex nanomicelles attenuates monocrotaline-induced pulmonary hypertension in rats. 61 54
19337232 2009
33
RhoA and Rho kinase activation in human pulmonary hypertension: role of 5-HT signaling. 61 54
19299501 2009
34
Right atrium contractility and right ventricular diastolic function assessed by pulsed tissue Doppler imaging can predict brain natriuretic peptide in adults with acquired pulmonary hypertension. 54 61
18793807 2009
35
Prognostic value of B-type natriuretic peptide in children with pulmonary hypertension. 61 54
18599134 2009
36
Erectile dysfunction and heart failure: the role of phosphodiesterase type 5 inhibitors. 61 54
19387454 2009
37
Discovery of riociguat (BAY 63-2521): a potent, oral stimulator of soluble guanylate cyclase for the treatment of pulmonary hypertension. 54 61
19263460 2009
38
Plasma endothelin-1 and nitrate levels in Down's syndrome with complete atrioventricular septal defect-associated pulmonary hypertension: a comparison with non-Down's syndrome children. 61 54
18682983 2009
39
Inhibition of cGMP phosphodiesterase 5 suppresses serotonin signalling in pulmonary artery smooth muscles cells. 54 61
19416631 2009
40
Caveolin-1 Expression and Hemodynamics in COPD Patients. 61 54
19572028 2009
41
Brain natriuretic peptide as a preclinical marker of chronic pulmonary hypertension in patients with pulmonary embolism. 54 61
19247590 2009
42
Novel approaches to the pharmacotherapy of pulmonary arterial hypertension. 61 54
19121410 2009
43
Combined use of PDE5 inhibitors and nitrates in the treatment of pulmonary arterial hypertension in patients with heart failure. 61 54
19181291 2009
44
[Endothelin-1 and brain natriuretic peptide in the development of pulmonary hypertension in interstitial lung diseases]. 54 61
20481052 2009
45
NO-independent, haem-dependent soluble guanylate cyclase stimulators. 61 54
19089334 2009
46
Hypoxic upregulation of preproendothelin-1 gene expression is associated with protein tyrosine kinase-PI3K signaling in cultured lung vascular endothelial cells. 54 61
19436835 2009
47
[Estimation of plasmic concentration of the brain natriuretic peptide in interstitial pulmonary diseases with pulmonary hypertension: clinical role]. 54 61
19459423 2009
48
Superoxide dismutase restores eNOS expression and function in resistance pulmonary arteries from neonatal lambs with persistent pulmonary hypertension. 61 54
18790993 2008
49
Differential roles of endothelin-1 ETA and ETB receptors and vasoactive intestinal polypeptide in regulation of the airways and the pulmonary vasculature in isolated rat lung. 54 61
18567602 2008
50
Inhalation of vasoactive intestinal peptide in pulmonary hypertension. 61 54
18978135 2008

Variations for Pulmonary Hypertension

ClinVar genetic disease variations for Pulmonary Hypertension:

6 (show top 50) (show all 166)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.7(BMPR2):c.93_94insT (p.Arg32fs) Insertion Pathogenic 812795 rs1574462520 2:203329548-203329549 2:202464825-202464826
2 BMPR2 NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) SNV Pathogenic 812796 rs1085307197 2:203332245-203332245 2:202467522-202467522
3 BMPR2 NM_001204.7(BMPR2):c.274del (p.Gln92fs) Deletion Pathogenic 812797 rs1574464060 2:203332265-203332265 2:202467542-202467542
4 BMPR2 NM_001204.7(BMPR2):c.288T>G (p.Tyr96Ter) SNV Pathogenic 812798 rs749485755 2:203332282-203332282 2:202467559-202467559
5 BMPR2 NM_001204.7(BMPR2):c.314del (p.Pro105fs) Deletion Pathogenic 812799 rs1574464121 2:203332307-203332307 2:202467584-202467584
6 BMPR2 NM_001204.7(BMPR2):c.344dup (p.Cys116fs) Duplication Pathogenic 812800 rs1574464150 2:203332335-203332336 2:202467612-202467613
7 BMPR2 NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg) SNV Pathogenic 812801 rs1574464160 2:203332340-203332340 2:202467617-202467617
8 BMPR2 NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly) SNV Pathogenic 812802 rs1085307214 2:203332343-203332343 2:202467620-202467620
9 BMPR2 NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter) SNV Pathogenic 812805 rs1574485996 2:203378493-203378493 2:202513770-202513770
10 BMPR2 NM_001204.7(BMPR2):c.533_536dup (p.Lys180fs) Duplication Pathogenic 812807 rs1574486497 2:203379612-203379613 2:202514889-202514890
11 BMPR2 NM_001204.7(BMPR2):c.619dup (p.Glu207fs) Duplication Pathogenic 812808 rs1574486566 2:203379698-203379699 2:202514975-202514976
12 BMPR2 NM_001204.7(BMPR2):c.621+1G>A SNV Pathogenic 812809 rs1553508321 2:203379703-203379703 2:202514980-202514980
13 BMPR2 NM_001204.7(BMPR2):c.657del (p.Gly220fs) Deletion Pathogenic 812812 rs1574488314 2:203383578-203383578 2:202518855-202518855
14 BMPR2 NM_001204.7(BMPR2):c.683del (p.Ala228fs) Deletion Pathogenic 812813 rs1574488346 2:203383606-203383606 2:202518883-202518883
15 BMPR2 NM_001204.7(BMPR2):c.687_693del (p.Lys230fs) Deletion Pathogenic 812814 rs1574488353 2:203383610-203383616 2:202518887-202518893
16 BMPR2 NM_001204.7(BMPR2):c.691del (p.Val231fs) Deletion Pathogenic 812815 rs1574488357 2:203383614-203383614 2:202518891-202518891
17 BMPR2 NM_001204.7(BMPR2):c.761_762del (p.His254fs) Deletion Pathogenic 812816 rs1574488412 2:203383684-203383685 2:202518961-202518962
18 BMPR2 NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter) SNV Pathogenic 812817 rs1414031345 2:203383716-203383716 2:202518993-202518993
19 BMPR2 NM_001204.7(BMPR2):c.823dup (p.Tyr275fs) Duplication Pathogenic 812818 rs1574488484 2:203383745-203383746 2:202519022-202519023
20 BMPR2 NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter) SNV Pathogenic 812819 rs1574488490 2:203383766-203383766 2:202519043-202519043
21 BMPR2 NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter) SNV Pathogenic 812820 rs863223419 2:203383769-203383769 2:202519046-202519046
22 BMPR2 NM_001204.7(BMPR2):c.852_852+1insA Insertion Pathogenic 812821 rs1574488501 2:203383775-203383776 2:202519052-202519053
23 BMPR2 NM_001204.7(BMPR2):c.1128+2T>G SNV Pathogenic 812823 rs1574493841 2:203395679-203395679 2:202530956-202530956
24 BMPR2 NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg) SNV Pathogenic 812827 rs1085307316 2:203397407-203397407 2:202532684-202532684
25 BMPR2 NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter) SNV Pathogenic 812828 rs1574494632 2:203397421-203397421 2:202532698-202532698
26 BMPR2 NM_001204.7(BMPR2):c.2014G>T (p.Glu672Ter) SNV Pathogenic 812838 rs1574506790 2:203420402-203420402 2:202555679-202555679
27 BMPR2 NM_001204.7(BMPR2):c.2027_2030dup (p.Lys678fs) Duplication Pathogenic 812839 rs1574506799 2:203420414-203420415 2:202555691-202555692
28 BMPR2 NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) SNV Pathogenic 812840 rs1574506914 2:203420546-203420546 2:202555823-202555823
29 BMPR2 NM_001204.7(BMPR2):c.2245dup (p.Gln749fs) Duplication Pathogenic 812841 rs1574506976 2:203420632-203420633 2:202555909-202555910
30 BMPR2 NM_001204.7(BMPR2):c.2372_2373del (p.Met791fs) Deletion Pathogenic 812842 rs1574507076 2:203420760-203420761 2:202556037-202556038
31 BMPR2 NM_001204.7(BMPR2):c.2426dup (p.Ala810fs) Duplication Pathogenic 812843 rs1574507124 2:203420813-203420814 2:202556090-202556091
32 BMPR2 NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter) SNV Pathogenic 812844 rs1574507215 2:203420888-203420888 2:202556165-202556165
33 BMPR2 NM_001204.7(BMPR2):c.2533del (p.Glu845fs) Deletion Pathogenic 812845 rs1574507268 2:203420921-203420921 2:202556198-202556198
34 BMPR2 NM_001204.7(BMPR2):c.1353_1354TC[3] (p.Val453fs) Microsatellite Pathogenic 812831 rs1574500018 2:203407109-203407110 2:202542386-202542387
35 BMPR2 NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter) SNV Pathogenic 812832 rs1574505253 2:203417457-203417457 2:202552734-202552734
36 BMPR2 NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter) SNV Pathogenic 812847 rs1574507276 2:203420936-203420936 2:202556213-202556213
37 BMPR2 NM_001204.7(BMPR2):c.2558_2559insA (p.Gly853_Glu854insTer) Insertion Pathogenic 812848 rs1574507290 2:203420946-203420947 2:202556223-202556224
38 BMPR2 NM_001204.7(BMPR2):c.2608_2612del (p.Leu870fs) Deletion Pathogenic 812849 rs1574507331 2:203420994-203420998 2:202556271-202556275
39 ACVRL1 NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) SNV Pathogenic 812852 rs1592222308 12:52307363-52307363 12:51913579-51913579
40 BMPR2 NM_001204.7(BMPR2):c.1958_1959del (p.Pro653fs) Deletion Pathogenic 812835 rs1574506729 2:203420346-203420347 2:202555623-202555624
41 BMPR2 NM_001204.7(BMPR2):c.1962_1963insGA (p.Cys655fs) Insertion Pathogenic 812836 rs1574506732 2:203420350-203420351 2:202555627-202555628
42 BMPR2 NM_001204.7(BMPR2):c.19del (p.Arg7fs) Deletion Pathogenic 813011 rs1574415785 2:203242216-203242216 2:202377493-202377493
43 BMPR2 NM_001204.7(BMPR2):c.26_41del (p.Trp9fs) Deletion Pathogenic 813012 rs1574415799 2:203242221-203242236 2:202377498-202377513
44 BMPR2 NC_000002.12:g.202373247_202381017del Deletion Pathogenic 812937 2:203237969-203245739
45 BMPR2 NC_000002.12:g.202461237_202467808del Deletion Pathogenic 812939 2:203325958-203332529
46 CD28 Deletion Pathogenic 813264 2:202772963-205218660
47 NOP58 Deletion Pathogenic 813266 2:203137870-203296088
48 ACVRL1 NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) SNV Pathogenic 212796 rs863223408 12:52314616-52314616 12:51920832-51920832
49 DIPK1A NM_000969.5(RPL5):c.74-1G>C SNV Pathogenic 523383 rs1553284997 1:93299101-93299101 1:92833544-92833544
50 BMPR2 NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg) SNV Pathogenic 425702 rs1085307163 2:203329555-203329555 2:202464832-202464832

Expression for Pulmonary Hypertension

Search GEO for disease gene expression data for Pulmonary Hypertension.

Pathways for Pulmonary Hypertension

Pathways related to Pulmonary Hypertension according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.85 MIR451A MIR21 MIR20A MIR17 BMPR2
2
Show member pathways
10.23 CAV1 BMPR2 ACVRL1

GO Terms for Pulmonary Hypertension

Cellular components related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular vesicle GO:1903561 9.02 MIR451A MIR22 MIR21 MIR20A MIR17

Biological processes related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 10.04 MIR451A MIR22 MIR21 MIR20A MIR17
2 angiogenesis GO:0001525 9.92 TBX4 ENG CAV1 ACVRL1
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.83 MIR21 ENG ACVRL1
4 miRNA mediated inhibition of translation GO:0035278 9.83 MIR21 MIR20A MIR17
5 positive regulation of angiogenesis GO:0045766 9.78 MIR21 MIR20A ENG ACVRL1
6 positive regulation of osteoblast differentiation GO:0045669 9.77 MIR21 MIR20A BMPR2
7 negative regulation of cell migration GO:0030336 9.76 MIR451A MIR21 ENG ACVRL1
8 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.71 MIR21 MIR20A MIR17
9 outflow tract morphogenesis GO:0003151 9.7 MIR20A MIR17 BMPR2
10 negative regulation of necroptotic process GO:0060546 9.68 MIR22 CAV1
11 positive regulation of endothelial cell differentiation GO:0045603 9.67 MIR21 ACVRL1
12 activin receptor signaling pathway GO:0032924 9.67 BMPR2 ACVRL1
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.67 BMPR2 ACVRL1
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 ENG BMPR2 ACVRL1
15 endocardial cushion morphogenesis GO:0003203 9.66 ENG ACVRL1
16 negative regulation of nitric-oxide synthase activity GO:0051001 9.65 ENG CAV1
17 negative regulation of DNA biosynthetic process GO:2000279 9.64 BMPR2 ACVRL1
18 negative regulation of cytokine-mediated signaling pathway GO:0001960 9.64 MIR21 CAV1
19 negative regulation of systemic arterial blood pressure GO:0003085 9.63 MIR17 BMPR2
20 lymphangiogenesis GO:0001946 9.63 BMPR2 ACVRL1
21 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.62 MIR20A MIR17
22 positive regulation of metalloendopeptidase activity GO:1904685 9.61 MIR21 MIR17
23 endothelial tube morphogenesis GO:0061154 9.61 MIR21 ACVRL1
24 artery development GO:0060840 9.6 BMPR2 ACVRL1
25 positive regulation of vascular smooth muscle cell differentiation GO:1905065 9.58 MIR21 ENG
26 retina vasculature development in camera-type eye GO:0061298 9.58 BMPR2 ACVRL1
27 dorsal aorta morphogenesis GO:0035912 9.57 ENG ACVRL1
28 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.56 MIR21 MIR17
29 BMP signaling pathway GO:0030509 9.56 MIR21 ENG BMPR2 ACVRL1
30 lymphatic endothelial cell differentiation GO:0060836 9.55 BMPR2 ACVRL1
31 negative regulation of chondrocyte proliferation GO:1902731 9.51 MIR21 BMPR2
32 positive regulation of vascular associated smooth muscle cell migration GO:1904754 9.5 MIR451A MIR21 MIR20A
33 negative regulation of gene expression GO:0010629 9.5 MIR451A MIR21 MIR20A MIR17 ENG CD28
34 positive regulation of BMP signaling pathway GO:0030513 9.46 MIR20A ENG BMPR2 ACVRL1
35 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.43 MIR20A MIR17
36 venous blood vessel development GO:0060841 9.4 BMPR2 ACVRL1
37 endocardial cushion to mesenchymal transition GO:0090500 9.37 ENG ACVRL1
38 negative regulation of endothelial cell proliferation GO:0001937 9.02 MIR22 MIR21 ENG CAV1 ACVRL1

Molecular functions related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.67 MIR22 MIR21 MIR20A MIR17
2 activin binding GO:0048185 9.32 ENG ACVRL1
3 BMP binding GO:0036122 9.26 ENG BMPR2
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 BMPR2 ACVRL1
5 BMP receptor activity GO:0098821 8.96 BMPR2 ACVRL1
6 transforming growth factor beta-activated receptor activity GO:0005024 8.8 ENG BMPR2 ACVRL1

Sources for Pulmonary Hypertension

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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