MCID: PLM070
MIFTS: 43

Pulmonic Stenosis malady

Rare diseases category

Summaries for Pulmonic Stenosis

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Wikipedia:63 Pulmonic stenosis, also known as pulmonary stenosis, is a dynamic or fixed obstruction of flow from the... more...

MalaCards based summary: Pulmonic Stenosis, also known as valvular pulmonic stenosis, is related to leopard syndrome 1 and noonan syndrome 1, and has symptoms including pulmonic stenosis An important gene associated with Pulmonic Stenosis is IGFBP7 (insulin-like growth factor binding protein 7), and among its related pathways are Development Leptin signaling via JAK STAT and MAPK cascades and Development FGFR signaling pathway. The drug alprostadil and the compounds trifluoroethanol and gppnhp have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related mouse phenotypes are no phenotypic analysis and liver/biliary system.

Aliases & Classifications for Pulmonic Stenosis

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Pulmonic Stenosis, Aliases & Descriptions:

Name: Pulmonic Stenosis 41
Valvular Pulmonic Stenosis 41
 
Pulmonary Valve Stenosis 60
Pulmonary Stenosis 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Pulmonic Stenosis

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Diseases related to Pulmonic Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 130.9PTPN11
2noonan syndrome 130.9PTPN11
3congenital heart disease30.7JAG1, PTPN11
4pulmonary valve stenosis30.4ELN, JAG1, PTPN11
5cardiofaciocutaneous syndrome30.0HRAS, BRAF, PTPN11
6leopard syndrome30.0RAF1, HRAS, PTPN11
7sarcoma29.8BRAF, RAF1, HRAS
8mental retardation29.7HRAS, ELN, BRAF, PTPN11
9costello syndrome29.5HRAS, ELN, BRAF, PTPN11
10ventricular septal defect10.7
11tetralogy of fallot10.6
12retinal arterial macroaneurysm with supravalvular pulmonic stenosis10.5
13mediastinitis10.5
14aneurysm10.5
15pulmonary hypertension10.4
16patent ductus arteriosus10.4
17watson syndrome10.4
18keutel syndrome10.3
19congestive heart failure10.3
20pulmonary subvalvular stenosis10.3
21patent foramen ovale10.3
22heterotaxy, visceral, 1, x-linked10.2
23leukemia, juvenile myelomonocytic10.1HRAS, PTPN11
24noonan syndrome 610.1
25noonan syndrome 810.1
26peters anomaly10.1
27noonan syndrome 410.1
28pitt-hopkins-like syndrome 210.1
29mowat-wilson syndrome10.1
30adams-oliver syndrome 110.1
31trichohepatoenteric syndrome 110.1
32williams-beuren syndrome10.1
33charge syndrome10.1
34noonan syndrome 710.1
35ventricular septal defect 110.1
36mungan syndrome10.1
37chondrosarcoma10.1
38ritscher-schinzel syndrome10.1
39nephronophthisis 1610.1
40muscular dystrophy-dystroglycanopathy , type a, 410.1
41adams-oliver syndrome 510.1
42hypermethioninemia due to adenosine kinase deficiency10.1
43spondyloepiphyseal dysplasia with congenital joint dislocations10.1
44noonan syndrome 310.1
45marfan syndrome10.1
46microphthalmia, syndromic 910.1
47neurofibromatosis-noonan syndrome10.1
48koolen-de vries syndrome10.1
49right atrial isomerism10.1
50hypercalcemia, infantile10.1

Graphical network of the top 20 diseases related to Pulmonic Stenosis:



Diseases related to pulmonic stenosis

Symptoms for Pulmonic Stenosis

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HPO human phenotypes related to Pulmonic Stenosis:

id Description Frequency HPO Source Accession
1 pulmonic stenosis HP:0001642

Drugs & Therapeutics for Pulmonic Stenosis

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Drug clinical trials:

Search ClinicalTrials for Pulmonic Stenosis

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Pulmonic Stenosis

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Anatomical Context for Pulmonic Stenosis

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MalaCards organs/tissues related to Pulmonic Stenosis:

31
Heart, Liver, Lung, B cells

Animal Models for Pulmonic Stenosis or affiliated genes

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MGI Mouse Phenotypes related to Pulmonic Stenosis:

35 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.3IGFBP7, PTPN11, JAG1, RAF1, HRAS
2MP:00053708.0PTPN11, BRAF, JAG1, RAF1
3MP:00020068.0HRAS, RAF1, BRAF, PTPN11
4MP:00053697.8PTPN11, BRAF, JAG1, ELN, RAF1
5MP:00053827.8PTPN11, BRAF, JAG1, RAF1, HRAS
6MP:00053917.8PTPN11, BRAF, JAG1, RAF1
7MP:00107717.8PTPN11, BRAF, JAG1, RAF1, HRAS
8MP:00053887.8HRAS, RAF1, ELN, BRAF, PTPN11
9MP:00028737.7PTPN11, BRAF, JAG1, RAF1, HRAS
10MP:00036317.6HRAS, RAF1, JAG1, BRAF, PTPN11
11MP:00053907.4HRAS, RAF1, ELN, JAG1, BRAF, PTPN11
12MP:00053857.4PTPN11, BRAF, JAG1, ELN, RAF1, HRAS
13MP:00053767.2PTPN11, BRAF, JAG1, ELN, RAF1, HRAS
14MP:00107687.2PTPN11, BRAF, JAG1, ELN, RAF1, HRAS

Publications for Pulmonic Stenosis

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Articles related to Pulmonic Stenosis:

(show top 50)    (show all 329)
idTitleAuthorsYear
1
Prevalence of patent foramen ovale with right-to-left shunting in dogs with pulmonic stenosis. (22151278)
2012
2
Massive dilatation of the pulmonary artery in association with pulmonic stenosis and pulmonary hypertension. (22837867)
2012
3
The relevance of echocardiography heart measures for breeding against the risk of subaortic and pulmonic stenosis in Boxer dogs. (21908643)
2012
4
Addition of color Doppler to the routine obstetric sonographic survey aids in the detection of pulmonic stenosis. (20720393)
2010
5
Partial anomalous pulmonary venous return presenting as pseudo-pulmonic stenosis. (19083893)
2007
6
Balloon valvuloplasty of valvular pulmonic stenosis in the dog. (16180401)
2005
7
ECG of the month. Pulmonic stenosis. (15154725)
2004
8
Pulmonic stenosis in dogs: balloon dilation improves clinical outcome. (15515581)
2004
9
Branchio-oculo-facial syndrome with valvular pulmonic stenosis. (15591681)
2004
10
Pathogenesis of single right coronary artery and pulmonic stenosis in English Bulldogs. (11300591)
2001
11
Pulmonic stenosis caused by single coronary artery in dogs: four cases (1965-1984). (2295544)
1990
12
Management of neonatal critical pulmonic stenosis in the balloon valvotomy era. (2306149)
1990
13
Pannus formation in a Hancock-valved conduit resulting in proximal intraconduit obstruction: late complication of Rastelli procedure for complete transposition of the great vessels with ventricular septal defect and pulmonic stenosis. (7234666)
1981
14
Congenital subvalvular pulmonic stenosis in a cat. (7190749)
1980
15
Frequency and direction of interatrial shunting in valvular pulmonic stenosis with intact ventricular septum and without left ventricular inflow or outflow obstruction. An analysis of 127 patients treated by valvulotomy. (7352396)
1980
16
Double-outlet right ventricle (S,D,D), VSD related to pulmonary artery, and pulmonic stenosis absent. Correction with an intraventricular conduit in infancy. (875443)
1977
17
Combined tricuspid and pulmonic stenosis. Clinical, echocardiographic, hemodynamic, surgical, and pathological features. (559886)
1977
18
USE OF AN EXTRACARDIAC CONDUIT IN THE REPAIR OF l-TRANSPOSITION WITH l-LOOPING ASSOCIATED WITH SEVERE SUBVALVULAR PULMONIC STENOSIS AND A VENTRICULAR SEPTAL DEFECT. (15216089)
1977
19
A patch-graft technique for correction of pulmonic stenosis in dogs. (789311)
1976
20
Giant blood cyst and congenital pulmonic stenosis. Report of a case. (1190181)
1975
21
Hypercyanotic spells (cyanotic crisis) in an infant with valvar pulmonic stenosis. (4768120)
1973
22
Pulmonic stenosis in the adult. Long-term follow-up results. (5082217)
1972
23
Myocardial infarction and pulmonic stenosis in a dog. (5105715)
1971
24
Pulmonary regurgitation with ventricular septal defect and pulmonic stenosis--tetralogy of Fallot variant. (5769310)
1969
25
Dilatation of the aorta and pulmonary artery with aortic and pulmonary insufficiency in the presence of a ventricular septal defect and infundibular pulmonic stenosis. Report of a case of forme fruste of the Marfan syndrome. (5923672)
1966
26
EFFECT OF CHRONICALLY INCREASED VENTRICULAR PRESSURE ON ELECTRICAL FORCES OF THE HEART. A CORRELATION BETWEEN HEMODYNAMIC AND VECTROCARDIOGRAPHIC DATA (FRANK SYSTEM) IN 90 PATIENTS WITH AORTIC OR PULMONIC STENOSIS. (14211813)
1964
27
THE FATE OF THE PATIENT WITH PULMONIC STENOSIS. (14211817)
1964
28
CONGENITAL PULMONIC STENOSIS COMPLICATING EBSTEIN'S ANOMALY OF THE TRICUSPID VALVE. (14222416)
1964
29
LEFT SUPERIOR VENA CAVA WITH ANOMALOUS INFERIOR VENA CAVA. REPORT OF A CASE WITH ASSOCIATED ATRIAL SEPTAL DEFECT AND PULMONIC STENOSIS, SUCCESSFULLY CORRECTED. (14056243)
1963
30
Calcific pulmonic stenosis. (13938996)
1963
31
Combined aortic and pulmonic stenosis. (14477792)
1962
32
Acquired pulmonic stenosis. Report of a case caused by mediastinal neoplasm. (13965836)
1962
33
An electrographic study of right ventricular hypertrophy in pulmonic stenosis. (13606054)
1959
34
Valvular pulmonic stenosis: ausculatory and phonocardiographic characteristics. (13594834)
1958
35
Dynamics of valvular pulmonic stenosis studied by needle puncture of pulmonary artery and right ventricle on the operating table. (13525307)
1958
36
Relative pulmonic stenosis. (13402715)
1957
37
Functional changes during high output failure produced by daily hemorrhage in dogs with pulmonic stenosis. (13447182)
1957
38
Experience in the surgical management of atrial septal defect and pulmonic stenosis under hypothermia. (13403184)
1957
39
Experiences in the surgical alleviation of congenital pulmonic stenosis. (14380099)
1955
40
Clinical and hemodynamic studies of congenital pulmonic stenosis with intact ventricular septum. (13171388)
1954
41
Hemodynamic effects of valvulotomy in pulmonic stenosis. (13082668)
1953
42
The problem of isolated valvular versus infundibular pulmonic stenosis with particular reference to cardiac catheterization data and records obtained at the time of operation. (13014127)
1953
43
The surgical treatment of pure pulmonic stenosis; a description of and expansible valvulotomy. (14855226)
1951
44
Aortic vascular rings encountered in the surgical treatment of congenital pulmonic stenosis. (15410299)
1950
45
Roentgenographic changes in pulmonic stenosis; a report of 9 cases. (15419338)
1950
46
The surgical treatment of congenital pulmonic stenosis. (20342447)
1947
47
The technique of creation of an artificial ductus arteriosus in the treatment of pulmonic stenosis. (20242212)
1947
48
The Blalock operation for congenital pulmonic stenosis; report of two successful cases. (20284738)
1947
49
The surgical treatment of congenital pulmonic stenosis. (21000853)
1946
50
Anesthesia in the surgical treatment of congenital pulmonic stenosis. (20996692)
1946

Variations for Pulmonic Stenosis

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Expression for genes affiliated with Pulmonic Stenosis

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Search GEO for disease gene expression data for Pulmonic Stenosis.

Pathways for genes affiliated with Pulmonic Stenosis

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Pathways related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 98)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8RAF1, PTPN11, HRAS
2
Show member pathways
Development Flt3 signaling58
8.8HRAS, PTPN11, RAF1
38.8HRAS, RAF1, PTPN11
4
Show member pathways
EPO Receptor Signaling36
EPO signaling pathway36
8.8RAF1, HRAS, PTPN11
5
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
8.8HRAS, RAF1, PTPN11
6
Show member pathways
Immune response IL 3 activation and signaling pathway58
8.8PTPN11, HRAS, RAF1
78.8HRAS, RAF1, PTPN11
88.8PTPN11, HRAS, RAF1
98.8RAF1, HRAS, PTPN11
10
Show member pathways
8.8HRAS, PTPN11, RAF1
11
Show member pathways
8.8HRAS, RAF1, PTPN11
128.8PTPN11, RAF1, HRAS
13
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
8.8PTPN11, RAF1, HRAS
148.8PTPN11, RAF1, HRAS
158.8PTPN11, RAF1, HRAS
168.8PTPN11, RAF1, HRAS
17
Show member pathways
IL-2 Signaling pathway36
8.8PTPN11, RAF1, HRAS
18
Show member pathways
8.6BRAF, HRAS, RAF1
19
Show member pathways
8.6BRAF, RAF1, HRAS
20
Show member pathways
Signal transduction PTEN pathway58
8.6HRAS, RAF1, BRAF
218.6BRAF, RAF1, HRAS
22
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.6RAF1, BRAF, HRAS
238.6HRAS, RAF1, BRAF
24
Show member pathways
8.6RAF1, HRAS, BRAF
25
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.6HRAS, BRAF, RAF1
26
Show member pathways
8.6BRAF, HRAS, RAF1
27
Show member pathways
Development Beta adrenergic receptors regulation of ERK58
G protein signaling G Protein alpha s signaling cascades58
G protein signaling G Protein beta gamma signaling cascades58
8.6HRAS, RAF1, BRAF
28
Show member pathways
RAC1 signaling pathway36
8.6HRAS, RAF1, BRAF
29
Show member pathways
8.6BRAF, RAF1, HRAS
308.6BRAF, HRAS, RAF1
31
Show member pathways
8.6BRAF, HRAS, RAF1
328.6BRAF, RAF1, HRAS
338.6BRAF, RAF1, HRAS
34
Show member pathways
8.5BRAF, RAF1, PTPN11
358.2HRAS, IGFBP7, RAF1, BRAF
36
Show member pathways
8.2BRAF, ELN, RAF1, HRAS
37
Show member pathways
8.2RAF1, HRAS, ELN, BRAF
38
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
8.0BRAF, RAF1, HRAS, PTPN11
398.0HRAS, RAF1, BRAF, PTPN11
40
Show member pathways
8.0HRAS, BRAF, PTPN11, RAF1
41
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
8.0BRAF, RAF1, HRAS, PTPN11
42
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
8.0HRAS, RAF1, BRAF, PTPN11
43
Show member pathways
8.0PTPN11, BRAF, RAF1, HRAS
44
Show member pathways
8.0RAF1, BRAF, HRAS, PTPN11
45
Show member pathways
8.0PTPN11, BRAF, HRAS, RAF1
46
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.0BRAF, RAF1, PTPN11, HRAS
478.0HRAS, PTPN11, RAF1, BRAF
48
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
8.0BRAF, PTPN11, RAF1, HRAS
49
Show member pathways
Immune response CD16 signaling in NK cells58
8.0HRAS, PTPN11, RAF1, BRAF
507.6RAF1, HRAS, PTPN11, JAG1, BRAF

Compounds for genes affiliated with Pulmonic Stenosis

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Compounds related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

(show all 50)
idCompoundScoreTop Affiliating Genes
1trifluoroethanol43 1210.8HRAS, ELN
2gppnhp439.8HRAS, RAF1
3phosphorothioate439.8HRAS, RAF1
4manumycin439.7RAF1, HRAS
5gdc 0879599.6BRAF, RAF1
6l-779,450599.6BRAF, RAF1
7gw 5074599.6BRAF, RAF1
8sb 590885599.6BRAF, RAF1
9gw-5074439.5BRAF, RAF1
10zm 33637259 4310.5RAF1, BRAF
11dabrafenib49 1210.5RAF1, BRAF
12regorafenib49 1210.4RAF1, BRAF
13sodium orthovanadate43 5910.4RAF1, PTPN11
14crcs439.3HRAS, BRAF
1517-(allylamino)-17-demethoxygeldanamycin439.3BRAF, RAF1
16herbimycin a43 5910.2HRAS, RAF1, PTPN11
17phosphotyrosine439.1PTPN11, RAF1, HRAS
18sorafenib43 49 1211.1RAF1, BRAF
19depsipeptide439.1BRAF, ELN, RAF1
20genistein43 28 59 2 24 1214.0ELN, RAF1, HRAS
2112-o-tetradecanoylphorbol 13-acetate438.9BRAF, RAF1, HRAS
22imatinib43 49 1210.9PTPN11, BRAF, RAF1
23phenylalanine438.9HRAS, BRAF, PTPN11
24paclitaxel43 49 1210.8HRAS, RAF1, BRAF
25pd 98,059438.8BRAF, RAF1, HRAS
26paraffin438.8HRAS, ELN, BRAF
27sb 20358043 599.8RAF1, BRAF, PTPN11
28h2o2438.7PTPN11, ELN, RAF1, HRAS
29cysteine438.6HRAS, RAF1, ELN, PTPN11
30forskolin43 49 1210.6PTPN11, BRAF, RAF1
31valine438.6BRAF, ELN, RAF1, HRAS
32aspartate438.6BRAF, ELN, RAF1, HRAS
33gtp43 289.5HRAS, RAF1, BRAF
34arginine438.4PTPN11, BRAF, ELN, HRAS
35ly294002438.4PTPN11, BRAF, RAF1, HRAS
36wortmannin438.4HRAS, RAF1, BRAF, PTPN11
37alanine438.4PTPN11, BRAF, ELN, RAF1
38phosphoinositide438.4PTPN11, BRAF, RAF1, HRAS
39glucose438.4IGFBP7, PTPN11, BRAF, HRAS
40cisplatin43 49 59 1211.4PTPN11, BRAF, RAF1, HRAS
41oligonucleotide438.4HRAS, RAF1, BRAF, PTPN11
42phosphatidylinositol438.3HRAS, RAF1, BRAF, PTPN11
43threonine438.3PTPN11, BRAF, RAF1, HRAS
44lysine438.3ELN, BRAF, PTPN11
45estrogen438.2IGFBP7, BRAF, ELN, RAF1, HRAS
46retinoic acid43 249.2HRAS, RAF1, ELN, BRAF, IGFBP7
47rapamycin438.0PTPN11, BRAF, ELN, RAF1, HRAS
48agar437.6HRAS, RAF1, ELN, BRAF, PTPN11, IGFBP7
49vegf437.6IGFBP7, PTPN11, BRAF, ELN, RAF1, HRAS
50serine437.6HRAS, RAF1, ELN, BRAF, PTPN11, IGFBP7

GO Terms for genes affiliated with Pulmonic Stenosis

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Biological processes related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1inner ear developmentGO:00488399.5IGFBP7, PTPN11
2positive regulation of peptidyl-serine phosphorylationGO:00331389.1RAF1, BRAF
3cell proliferationGO:00082839.0HRAS, RAF1, ELN
4insulin receptor signaling pathwayGO:00082869.0PTPN11, RAF1, HRAS
5Fc-epsilon receptor signaling pathwayGO:00380959.0HRAS, RAF1, PTPN11
6epidermal growth factor receptor signaling pathwayGO:00071739.0PTPN11, RAF1, HRAS
7negative regulation of cell proliferationGO:00082859.0HRAS, RAF1, IGFBP7
8axon guidanceGO:00074118.9PTPN11, RAF1, HRAS
9organ morphogenesisGO:00098878.9HRAS, ELN, BRAF
10activation of MAPKK activityGO:00001868.9BRAF, RAF1, HRAS
11small GTPase mediated signal transductionGO:00072648.8HRAS, RAF1, BRAF
12synaptic transmissionGO:00072688.3HRAS, RAF1, BRAF
13fibroblast growth factor receptor signaling pathwayGO:00085438.3HRAS, RAF1, BRAF, PTPN11
14neurotrophin TRK receptor signaling pathwayGO:00480118.3HRAS, RAF1, BRAF, PTPN11

Molecular functions related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:00047099.1RAF1, BRAF
2small GTPase bindingGO:00312679.0RAF1, BRAF
3mitogen-activated protein kinase kinase bindingGO:00314348.8RAF1, BRAF
4protein bindingGO:00055156.7HRAS, IGFBP7, PTPN11, BRAF, JAG1, ELN

Products for genes affiliated with Pulmonic Stenosis

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Sources for Pulmonic Stenosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet