MCID: PLM070
MIFTS: 47

Pulmonic Stenosis malady

Rare diseases category
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Summaries for Pulmonic Stenosis

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Wikipedia:65 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 congenital heart disease and leopard syndrome 1. 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 42
Valvular Pulmonic Stenosis 42 62
 
Pulmonary Stenosis 62


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/GeneDecks gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.8JAG1, PTPN11
2leopard syndrome 130.7PTPN11
3noonan syndrome 130.7PTPN11
4pulmonary valve stenosis30.5ELN, JAG1, PTPN11
5leopard syndrome30.1RAF1, HRAS, PTPN11
6cardiofaciocutaneous syndrome29.9HRAS, BRAF, PTPN11
7sarcoma29.9BRAF, RAF1, HRAS
8mental retardation29.8HRAS, ELN, BRAF, PTPN11
9ventricular septal defect10.7
10double outlet right ventricle10.6
11tetralogy of fallot10.6
12hypertension10.5
13aneurysm10.5
14mediastinitis10.5
15watson syndrome10.5
16pulmonary hypertension10.5
17patent ductus arteriosus10.5
18retinal arterial macroaneurysm with supravalvular pulmonic stenosis10.5
19congestive heart failure10.4
20patent foramen ovale10.4
21pulmonary subvalvular stenosis10.4
22keutel syndrome10.3
23alagille syndrome10.1
24b-cell lymphomas10.1
25coronary artery anomaly10.1
26myocardial infarction10.1
27azoospermia10.1
28marfan syndrome10.1
29intrahepatic cholestasis10.1
30situs inversus10.1
31dextrocardia10.1
32hemosiderosis10.1
33portal hypertension10.1
34pulmonary edema10.1
35aortic aneurysm10.1
36cholestasis10.1
37chondrosarcoma10.1
38fibrosarcoma10.1
39seminoma10.1
40subvalvular aortic stenosis10.1
41tuberculosis10.1
42prune belly syndrome10.1
43x-linked visceral heterotaxy 110.1
44blindness10.1
45teratoma10.1
46right aortic arch10.1
47juvenile myelomonocytic leukemia10.1HRAS, PTPN11
48neurofibromatosis10.1PTPN11, HRAS
49spitz nevus10.0HRAS, BRAF
50nodular goiter10.0HRAS, BRAF

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



Diseases related to pulmonic stenosis

Symptoms for Pulmonic Stenosis

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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 UMLS62/NDF-RT40:

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:

32
Heart, Liver, Lung, B cells

Animal Models for Pulmonic Stenosis or affiliated genes

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MGI Mouse Phenotypes related to Pulmonic Stenosis:

36 (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 327)
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
Pulmonic stenosis in dogs: balloon dilation improves clinical outcome. (15515581)
2004
8
Branchio-oculo-facial syndrome with valvular pulmonic stenosis. (15591681)
2004
9
Pathogenesis of single right coronary artery and pulmonic stenosis in English Bulldogs. (11300591)
2001
10
Pulmonic stenosis caused by single coronary artery in dogs: four cases (1965-1984). (2295544)
1990
11
Management of neonatal critical pulmonic stenosis in the balloon valvotomy era. (2306149)
1990
12
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
13
Congenital subvalvular pulmonic stenosis in a cat. (7190749)
1980
14
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
15
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
16
Combined tricuspid and pulmonic stenosis. Clinical, echocardiographic, hemodynamic, surgical, and pathological features. (559886)
1977
17
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
18
A patch-graft technique for correction of pulmonic stenosis in dogs. (789311)
1976
19
Giant blood cyst and congenital pulmonic stenosis. Report of a case. (1190181)
1975
20
Hypercyanotic spells (cyanotic crisis) in an infant with valvar pulmonic stenosis. (4768120)
1973
21
Pulmonic stenosis in the adult. Long-term follow-up results. (5082217)
1972
22
Myocardial infarction and pulmonic stenosis in a dog. (5105715)
1971
23
Pulmonary regurgitation with ventricular septal defect and pulmonic stenosis--tetralogy of Fallot variant. (5769310)
1969
24
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
25
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
26
THE FATE OF THE PATIENT WITH PULMONIC STENOSIS. (14211817)
1964
27
CONGENITAL PULMONIC STENOSIS COMPLICATING EBSTEIN'S ANOMALY OF THE TRICUSPID VALVE. (14222416)
1964
28
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
29
Calcific pulmonic stenosis. (13938996)
1963
30
Combined aortic and pulmonic stenosis. (14477792)
1962
31
Acquired pulmonic stenosis. Report of a case caused by mediastinal neoplasm. (13965836)
1962
32
An electrographic study of right ventricular hypertrophy in pulmonic stenosis. (13606054)
1959
33
Valvular pulmonic stenosis: ausculatory and phonocardiographic characteristics. (13594834)
1958
34
Dynamics of valvular pulmonic stenosis studied by needle puncture of pulmonary artery and right ventricle on the operating table. (13525307)
1958
35
Relative pulmonic stenosis. (13402715)
1957
36
Functional changes during high output failure produced by daily hemorrhage in dogs with pulmonic stenosis. (13447182)
1957
37
Experience in the surgical management of atrial septal defect and pulmonic stenosis under hypothermia. (13403184)
1957
38
Experiences in the surgical alleviation of congenital pulmonic stenosis. (14380099)
1955
39
Clinical and hemodynamic studies of congenital pulmonic stenosis with intact ventricular septum. (13171388)
1954
40
Hemodynamic effects of valvulotomy in pulmonic stenosis. (13082668)
1953
41
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
42
The surgical treatment of pure pulmonic stenosis; a description of and expansible valvulotomy. (14855226)
1951
43
Changes in blood volume following operation for pulmonic stenosis: studies with Evans blue and radioactive phosphorus. (14869923)
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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Expression patterns in normal tissues for genes affiliated with Pulmonic Stenosis

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Pathways for genes affiliated with Pulmonic Stenosis

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Pathways related to Pulmonic Stenosis according to GeneCards/GeneDecks:

(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 signaling60
8.8HRAS, PTPN11, RAF1
38.8HRAS, RAF1, PTPN11
4
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
8.8RAF1, HRAS, PTPN11
5
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
8.8HRAS, RAF1, PTPN11
6
Show member pathways
Immune response IL 3 activation and signaling pathway60
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 Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
8.8PTPN11, RAF1, HRAS
148.8PTPN11, RAF1, HRAS
158.8PTPN11, RAF1, HRAS
168.8PTPN11, RAF1, HRAS
17
Show member pathways
IL-2 Signaling pathway37
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 pathway60
8.6HRAS, RAF1, BRAF
218.6BRAF, RAF1, HRAS
22
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
8.6RAF1, BRAF, HRAS
238.6HRAS, RAF1, BRAF
24
Show member pathways
8.6RAF1, HRAS, BRAF
25
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
8.6HRAS, BRAF, RAF1
26
Show member pathways
8.6BRAF, HRAS, RAF1
27
Show member pathways
Development Beta adrenergic receptors regulation of ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
8.6HRAS, RAF1, BRAF
28
Show member pathways
RAC1 signaling pathway37
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 Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
8.0BRAF, RAF1, HRAS, PTPN11
398.0HRAS, RAF1, BRAF, PTPN11
40
Show member pathways
8.0HRAS, BRAF, PTPN11, RAF1
41
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
8.0BRAF, RAF1, HRAS, PTPN11
42
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
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 regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.0BRAF, RAF1, PTPN11, HRAS
478.0HRAS, PTPN11, RAF1, BRAF
48
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.0BRAF, PTPN11, RAF1, HRAS
49
Show member pathways
Immune response CD16 signaling in NK cells60
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/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1trifluoroethanol44 1110.8HRAS, ELN
2gppnhp449.8HRAS, RAF1
3phosphorothioate449.8HRAS, RAF1
4manumycin449.7RAF1, HRAS
5gdc 0879619.6BRAF, RAF1
6l-779,450619.6BRAF, RAF1
7gw 5074619.6BRAF, RAF1
8sb 590885619.6BRAF, RAF1
9gw-5074449.5BRAF, RAF1
10zm 33637261 4410.5RAF1, BRAF
11dabrafenib50 1110.5RAF1, BRAF
12regorafenib50 1110.4RAF1, BRAF
13sodium orthovanadate44 6110.4RAF1, PTPN11
14crcs449.3HRAS, BRAF
1517-(allylamino)-17-demethoxygeldanamycin449.3BRAF, RAF1
16herbimycin a44 6110.2HRAS, RAF1, PTPN11
17phosphotyrosine449.1PTPN11, RAF1, HRAS
18sorafenib44 50 1111.1RAF1, BRAF
19depsipeptide449.1BRAF, ELN, RAF1
20genistein44 28 61 2 24 1114.0ELN, RAF1, HRAS
2112-o-tetradecanoylphorbol 13-acetate448.9BRAF, RAF1, HRAS
22imatinib44 50 1110.9PTPN11, BRAF, RAF1
23phenylalanine448.9HRAS, BRAF, PTPN11
24paclitaxel44 50 1110.8HRAS, RAF1, BRAF
25pd 98,059448.8BRAF, RAF1, HRAS
26paraffin448.8HRAS, ELN, BRAF
27sb 20358044 619.8RAF1, BRAF, PTPN11
28h2o2448.7PTPN11, ELN, RAF1, HRAS
29cysteine448.6HRAS, RAF1, ELN, PTPN11
30forskolin44 50 1110.6PTPN11, BRAF, RAF1
31valine448.6BRAF, ELN, RAF1, HRAS
32aspartate448.6BRAF, ELN, RAF1, HRAS
33gtp44 289.5HRAS, RAF1, BRAF
34arginine448.4PTPN11, BRAF, ELN, HRAS
35ly294002448.4PTPN11, BRAF, RAF1, HRAS
36wortmannin448.4HRAS, RAF1, BRAF, PTPN11
37alanine448.4PTPN11, BRAF, ELN, RAF1
38phosphoinositide448.4PTPN11, BRAF, RAF1, HRAS
39glucose448.4IGFBP7, PTPN11, BRAF, HRAS
40cisplatin44 50 61 1111.4PTPN11, BRAF, RAF1, HRAS
41oligonucleotide448.4HRAS, RAF1, BRAF, PTPN11
42phosphatidylinositol448.3HRAS, RAF1, BRAF, PTPN11
43threonine448.3PTPN11, BRAF, RAF1, HRAS
44lysine448.3ELN, BRAF, PTPN11
45estrogen448.2IGFBP7, BRAF, ELN, RAF1, HRAS
46retinoic acid44 249.2HRAS, RAF1, ELN, BRAF, IGFBP7
47rapamycin448.0PTPN11, BRAF, ELN, RAF1, HRAS
48agar447.6HRAS, RAF1, ELN, BRAF, PTPN11, IGFBP7
49vegf447.6IGFBP7, PTPN11, BRAF, ELN, RAF1, HRAS
50serine447.6HRAS, 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/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1inner ear developmentGO:0488399.5IGFBP7, PTPN11
2positive regulation of peptidyl-serine phosphorylationGO:0331389.1RAF1, BRAF
3cell proliferationGO:0082839.0HRAS, RAF1, ELN
4insulin receptor signaling pathwayGO:0082869.0PTPN11, RAF1, HRAS
5Fc-epsilon receptor signaling pathwayGO:0380959.0HRAS, RAF1, PTPN11
6epidermal growth factor receptor signaling pathwayGO:0071739.0PTPN11, RAF1, HRAS
7negative regulation of cell proliferationGO:0082859.0HRAS, RAF1, IGFBP7
8axon guidanceGO:0074118.9PTPN11, RAF1, HRAS
9organ morphogenesisGO:0098878.9HRAS, ELN, BRAF
10activation of MAPKK activityGO:0001868.9BRAF, RAF1, HRAS
11small GTPase mediated signal transductionGO:0072648.8HRAS, RAF1, BRAF
12synaptic transmissionGO:0072688.3HRAS, RAF1, BRAF
13fibroblast growth factor receptor signaling pathwayGO:0085438.3HRAS, RAF1, BRAF, PTPN11
14neurotrophin TRK receptor signaling pathwayGO:0480118.3HRAS, RAF1, BRAF, PTPN11

Molecular functions related to Pulmonic Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:0047099.1RAF1, BRAF
2small GTPase bindingGO:0312679.0RAF1, BRAF
3mitogen-activated protein kinase kinase bindingGO:0314348.8RAF1, BRAF
4protein bindingGO:0055156.7HRAS, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet