AS
MCID: ART019
MIFTS: 68

Aortic Valve Stenosis (AS) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Aortic Valve Stenosis

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Aortic valve stenosis (avs) is a condition characterized by narrowing of the heart's aortic valve opening. this narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. avs can range from mild to severe. signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. individuals with less severe congenital avs (present at birth) may not develop symptoms until adulthood. individuals with severe cases may faint without warning. the condition can eventually lead to heart failure. avs can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. treatment may include medications to ease the symptoms, but surgery to repair or replace the valve is the only way to eliminate the condition. last updated: 7/5/2013

MalaCards: Aortic Valve Stenosis, also known as aortic stenosis, is related to adenocarcinoma and hypertension. An important gene associated with Aortic Valve Stenosis is EXTL3 (exostosin-like glycosyltransferase 3), and among its related pathways are Renin-angiotensin system and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The compounds Pirbuterol and Levobunolol have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and testes, and related mouse phenotypes are skeleton and endocrine/exocrine gland.

Disease Ontology:8 An aortic valve disease that has physical basis in incomplete opening of the aortic valve.

Wikipedia:63 Aortic valve stenosis (AS) is a disease of the heart valves in which the opening of the aortic valve is... more...

Description from OMIM:46 109730

Aliases & Classifications for Aortic Valve Stenosis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 46OMIM, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

aortic valve stenosis 8 42 10 60
aortic stenosis 8 42 44
congenital aortic valve stenosis 8 48
congenital stenosis of aortic valve 8
valvular aortic stenosis 42
as 8


External Ids:

Disease Ontology8 DOID:1712
ICD9CM27 746.3
MeSH34 D001024
OMIM46 109730
NCIt39 C50462
ICD10 via Orphanet26 Q23.0
SNOMED-CT via Orphanet57 18546004
UMLS via Orphanet61 C0152417

Related Diseases for Aortic Valve Stenosis

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17GeneCards, 18GeneDecks
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Diseases related to Aortic Valve Stenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 5211)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma31.1NPPC, NPR1, ADRB2
2hypertension31.1NPR1, ATP6AP2, NPPC, ADRB1, ADRB2, ACE2
3coronary artery disease30.9MGP, AGER, PLTP, ADRB1, ADRB2, NPPC
4diabetes mellitus30.8MGP, AHSG, PLTP, AGER
5acute myocardial infarction30.7ADRB1, ADRB2
6glaucoma30.6NPR1, MGP, ADRB1, ADRB2
7atherosclerosis30.5ADRB2, AGER, PLTP, LECT1, AHSG, MGP
8osteoporosis30.5AHSG, AGER, MGP
9myocardial infarction30.3ADRB1, NPR2, NPPC, NPR1, MGP, AGER
10essential hypertension30.3ADRB1, ACE2, AGER, NPR2, NPR1, ADRB2
11colon adenocarcinoma30.2NPPC, NPR1
12chagas disease30.2ADRB1
13congestive heart failure30.2NPPC
14ischemic heart disease30.2ADRB2, ADRB1, NPPC
15vascular disease30.1MGP
16cadasil30.1ADRB2, ADRB1, ACE2, NPR1
17congenital heart defect29.9ADRB1, NPR1, ADRB2
18uremia29.9AHSG, AGER
19hepatitis29.9AHSG
20noonan syndrome29.9ADRB1, ACE2, NPPC, ADRB2
21primary hyperoxaluria29.9AGER, AHSG, ACE2, MGP, NPPC
22hypertrophy of breast29.3MGP, NPPC, NPR1, ADRB2, ADRB1
23acromesomelic dysplasia29.1NPPC
24coronary heart disease29.1ADRB1, MGP, ADRB2, AGER, PLTP
25supravalvular aortic stenosis11.2
26subvalvular aortic stenosis10.9
27coronary stenosis10.9
28leukemia10.9
29breast cancer10.9
30prostatitis10.8
31aortic disease10.8
32pancreatitis10.8
33prostate cancer10.8
34acute leukemia10.7
35thyroiditis10.7
36pulmonary valve stenosis10.7
37squamous cell carcinoma10.7
38cervicitis10.7
39melanoma10.7
40colorectal cancer10.7
41neuronitis10.7
42williams syndrome10.7
43hepatitis a10.7
44sarcoma10.7
45tuberculosis10.6
46hepatocellular carcinoma10.6
47alzheimer's disease10.6
48ovarian cancer10.6
49mitral valve stenosis10.6
50esophagitis10.6

Graphical network of the top 20 diseases related to Aortic Valve Stenosis:



Diseases related to aortic valve stenosis

Clinical Features for Aortic Valve Stenosis

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46OMIM
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Clinical features from OMIM:

109730

Drugs & Therapeutics for Aortic Valve Stenosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Aortic Valve Stenosis

Drug clinical trials:

Search ClinicalTrials for Aortic Valve Stenosis

Search NIH Clinical Center for Aortic Valve Stenosis

Search CenterWatch for Aortic Valve Stenosis

Genetic Tests for Aortic Valve Stenosis

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Anatomical Context for Aortic Valve Stenosis

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32MalaCards
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MalaCards organs/tissues related to Aortic Valve Stenosis:

32
Heart, Endothelial, Testes, Monocytes, Kidney, Brain, Bone, Whole blood, Smooth muscle, Colon

Animal Models for Aortic Valve Stenosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Aortic Valve Stenosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.2JAG1, NPPC, NPR2, BGN, MGP, AGER
2MP:000537910.1EXTL3, NPR1, NPR2, NPPC, JAG1, FKBP6
3MP:000538510.1MGP, JAG1, NPR2, NPR1, ATP6AP2, AGER
4MP:000301210.1NPR2, BMF, JAG1, AGER, ADRB1, ADRB2
5MP:000538910.1NPR1, NPR2, NPPC, BMF, FKBP6, PLTP
6MP:000536910.1ADRB2, BGN, NPR1, NPR2, JAG1, MGP
7MP:000537810.0BGN, NPR2, NPPC, BMF, JAG1, MGP
8MP:00107689.9NPPC, NPR2, NPR1, EXTL3, BGN, BMF
9MP:00053769.9JAG1, NPPC, NPR2, NPR1, EXTL3, AGER
10MP:00053849.7EXTL3, NPR1, BMF, JAG1, AGER, DLX5

Publications for Aortic Valve Stenosis

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50PubMed
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Articles related to Aortic Valve Stenosis:

(show top 50)    (show all 587)
idTitleAuthorsYear
1
Left ventricular diastolic function is associated with symptom status in severe aortic valve stenosis. (24173271)
2014
2
Quantification of Congenital Aortic Valve Stenosis in Pediatric Patients: Comparison Between Cardiac Magnetic Resonance Imaging and Transthoracic Echocardiography. (24343730)
2013
3
Transcatheter aortic valve implantation (TAVI) for treatment of aortic valve stenosis: an evidence update. (23837106)
2013
4
Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus. (23678225)
2013
5
Pulmonary artery pseudoaneurysm in a patient with aortic valve stenosis. (23380552)
2013
6
Detecting aortic valve bicuspidy in patients with severe aortic valve stenosis: high diagnostic accuracy of colour Doppler transoesophageal echocardiography. (23054907)
2013
7
Single coronary artery with bicuspid aortic valve stenosis and aneurysm of the ascending aorta: report of a case. (23624612)
2013
8
Single coronary artery associated with severe bicuspid aortic valve stenosis. (24198454)
2013
9
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies. (22910529)
2012
10
Three-dimensional echocardiographic features of unicuspid aortic valve stenosis correlate with surgical findings. (22676160)
2012
11
Association between plasma asymmetrical dimethylarginine activity and severity of aortic valve stenosis. (20625307)
2011
12
Extracellular matrix metalloproteinase inducer (CD147) and membrane type 1-matrix metalloproteinase are expressed on tissue macrophages in calcific aortic stenosis and induce transmigration in an artificial valve model. (21146836)
2011
13
Current treatment status in patients with severe aortic valve stenosis and outcome of long term follow-up at advanced age: a Chinese single center study. (22040496)
2011
14
Low-gradient aortic valve stenosis myocardial fibrosis and its influence on function and outcome. (21757118)
2011
15
Branch retinal artery embolization due to calcific aortic valve stenosis. (20099234)
2010
16
Impact of baseline severity of aortic valve stenosis on effect of intensive lipid lowering therapy (from the SEAS study). (21094366)
2010
17
Circulating soluble receptor for advanced glycation end-product levels are decreased in patients with calcific aortic valve stenosis. (20074734)
2010
18
Recombinant apolipoprotein A-I Milano rapidly reverses aortic valve stenosis and decreases leaflet inflammation in an experimental rabbit model. (20304838)
2010
19
Inconsistent grading of aortic valve stenosis by current guidelines: haemodynamic studies in patients with apparently normal left ventricular function. (20813727)
2010
20
Quantification of aortic valve stenosis: head-to-head comparison of 64-slice spiral computed tomography with transesophageal and transthoracic echocardiography and cardiac catheterization. (19060789)
2009
21
Bicuspid aortic valve stenosis and postaortotomy calcified saccular aortic aneurysm. (19486220)
2009
22
Apolipoprotein E alleles and bicuspid aortic valve stenosis in monozygotic twins. (19304773)
2009
23
Non-compaction cardiomyopathy with low-gradient aortic valve stenosis. (18175771)
2008
24
Comprehensive evaluation of preoperative patients with aortic valve stenosis: usefulness of cardiac multidetector computed tomography. (17483132)
2007
25
Aortic valve stenosis and coronary artery disease: pathophysiological and clinical links. (18163008)
2007
26
Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. (17709640)
2007
27
Accuracy of multislice computed tomography in the preoperative assessment of coronary disease in patients with aortic valve stenosis. (16697319)
2006
28
Effects of angiotensin converting enzyme inhibitors in hypertensive patients with aortic valve stenosis: a drug withdrawal study. (16162624)
2005
29
One-stage treatment of aortic coarctation associated with coronary heart disease, ascending aortic aneurysm, and aortic valve stenosis with an extra-anatomic ascending-descending aortic bypass. (16077440)
2005
30
Inflammatory regulation of extracellular matrix remodeling in calcific aortic valve stenosis. (15780799)
2005
31
Progression of aortic valve sclerosis and aortic valve stenosis: what is the role of statin treatment? (15819504)
2005
32
QT interval dispersion analysis in patients with aortic valve stenosis: a prospective study. (12803331)
2003
33
Comparison of simultaneous invasive and noninvasive measurements of pressure gradients in congenital aortic valve stenosis. (12464918)
2002
34
Endoventricular circular patch plasty with aortic valve replacement for post-infarction cardiac rupture complicated with aortic valve stenosis: case report. (12381096)
2002
35
Transmural gradients of cardiac myofiber shortening in aortic valve stenosis patients using MRI tagging. (12234815)
2002
36
Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis. (11903341)
2001
37
Normalized left ventricular torsion to area loops are almost equal for controls and aortic valve stenosis patients. (11286532)
2001
38
Aortic-valve stenosis. (11075794)
2000
39
Extent, determinants and clinical importance of pressure recovery in patients with aortic valve stenosis. (10462470)
1999
40
Valvular and systemic arterial hemodynamics in aortic valve stenosis. A model-based approach. (7664429)
1995
41
In response to: Nygaard H, Thuesen L, Hasenkam JM, Pedersen EM. Assessing the severity of aortic valve stenosis by spectral analysis of cardiac murmurs (spectral vibrocardiography) Part I and Part II. (8269175)
1993
42
Assessing the severity of aortic valve stenosis by spectral analysis of cardiac murmurs (spectral vibrocardiography). Part I: Technical aspects. (8269149)
1993
43
A case of coronary stenosis developing after successful aortic valve repair in Cogan's syndrome. (8211932)
1993
44
Supravalvular aortic stenosis syndrome with advanced mitral regurgitation requiring extended aortoplasty and mitral valve replacement: a case report]. (2038171)
1991
45
Calcific aortic-valve stenosis and angiodysplasia of the colon: Heyde's syndrome--report of two cases. (2291237)
1990
46
Echocardiographic findings in discrete subaortic stenosis associated with infective endocarditis of the aortic valve. (7200015)
1981
47
Effects of successful, uncomplicated valve replacement on ventricular hypertrophy, volume, and performance in aortic stenosis and in aortic incompetence. (147370)
1978
48
Supravalvular aortic stenosis, with deformity of the aortic valve in a cat. (5688707)
1968
49
HOMOGRAFT AORTIC VALVE REPLACEMENT IN AORTIC INCOMPETENCE AND STENOSIS. (14128570)
1964
50
The operative management of pulmonary valvotomy for pulmonary valve stenosis with normal aortic root. (14380814)
1955

Genetic Variations for Aortic Valve Stenosis

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Expression for genes affiliated with Aortic Valve Stenosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aortic Valve Stenosis

Search GEO for disease gene expression data for Aortic Valve Stenosis.

Pathways for genes affiliated with Aortic Valve Stenosis

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Sources:
29KEGG, 53Reactome, 49PharmGKB, 37NCBI BioSystems Database
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Pathways related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3ACE2, MAS1, ATP6AP2
2
Hide members
10.3ACE2, MAS1, ATP6AP2

Compounds for genes affiliated with Aortic Valve Stenosis

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Sources:
11DrugBank, 28IUPHAR, 44Novoseek, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1Pirbuterol1110.8ADRB1, ADRB2
2Levobunolol1110.8ADRB2, ADRB1
3Metipranolol1110.8ADRB2, ADRB1
4lk 204-5452810.8ADRB1, ADRB2
5nip2810.8ADRB2, ADRB1
6cicloprolol2810.8ADRB2, ADRB1
7nihp2810.8ADRB2, ADRB1
8isoprenaline2810.8ADRB1, ADRB2
9Erythrityl Tetranitrate1110.8NPR2, NPR1
10Arbutamine1110.8ADRB2, ADRB1
11Bevantolol1110.8ADRB2, ADRB1
12sr59230a2810.8ADRB1, ADRB2
13dopexamine4410.8ADRB2, ADRB1
14[125i]icyp2810.8ADRB2, ADRB1
15cgp 1217728 4411.8ADRB2, ADRB1
16Nesiritide1110.8NPR2, NPR1
17Oxprenolol1110.8ADRB1, ADRB2
18penbutolol44 1111.8ADRB1, ADRB2
19noradrenaline2810.8ADRB1, ADRB2
20bupranolol28 44 1112.8ADRB1, ADRB2
21nadolol44 28 1112.8ADRB1, ADRB2
22icyp4410.8ADRB1, ADRB2
23carteolol44 1111.8ADRB2, ADRB1
24Acebutolol1110.7ADRB2, ADRB1
25Bopindolol1110.7ADRB2, ADRB1
26sotalol44 1111.7ADRB1, ADRB2
27zinterol44 2811.7ADRB2, ADRB1
28alprenolol44 28 1112.7ADRB2, ADRB1
29timolol44 28 49 1113.7ADRB2, ADRB1
30guanylate4410.7NPR1, NPR2, NPPC, ADRB1
31brain natriuretic peptide (1-32) (human)5910.7NPR2, NPR1
32atrial natriuretic factor (1-28) (rat)5910.7NPR2, NPR1
33c-type natriuretic peptide (1-22) (human, rat, swine)5910.7NPR2, NPR1
34labetalol44 1111.7ADRB1, ADRB2
35atrial natriuretic factor (1-28) (human, porcine)5910.7NPR1, NPR2
36forskolin44 49 1112.7NPR1, NPPC, ADRB1, ADRB2
37betaxolol44 28 1112.6ADRB1, ADRB2
38bucindolol49 4411.6ADRB1, ADRB2
39nebivolol44 1111.6ADRB1, ADRB2
40urodilatin4410.6NPR1, NPPC
41bisoprolol44 49 1112.6ADRB2, ADRB1
42dexamethasone44 49 28 1113.5BGN, NPR2, NPPC, DLX5, ADRB1, ADRB2
43pseudoephedrine44 11 2412.5ADRB2, ADRB1
44nitric oxide44 11 2412.5ADRB2, NPR1, NPR2, NPPC, JAG1, AGER
45dobutamine44 28 1112.5ADRB1, ADRB2
46clenbuterol44 1111.5ADRB1, ADRB2
47pindolol44 28 1112.4ADRB2, ADRB1
48fenoterol44 28 1112.4ADRB2, ADRB1
49Droxidopa1110.3ADRB2, ADRB1
50glucose449.9NPPC, AGER, AHSG, PLTP, ADRB1, ADRB2

GO Terms for genes affiliated with Aortic Valve Stenosis

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16Gene Ontology
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Cellular components related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.2ADRB2, ADRB1, MAS1, AGER, JAG1, NPR1
2extracellular regionGO:0055769.7ACE2, BGN, NPPC, JAG1, AGER, AHSG

Biological processes related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1heat generationGO:03164910.7ADRB1, ADRB2
2vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressureGO:00202510.7ADRB1, ADRB2
3cGMP biosynthetic processGO:00618210.6NPR2, NPPC, NPR1
4receptor guanylyl cyclase signaling pathwayGO:00716810.6NPR2, NPPC, NPR1
5negative regulation of smooth muscle contractionGO:04598610.6ADRB1, ADRB2
6regulation of vasodilationGO:04231210.6ADRB2, ACE2, NPR1
7diet induced thermogenesisGO:00202410.6ADRB2, ADRB1
8ossificationGO:00150310.6NPPC, MGP, AHSG, NPR2
9regulation of inflammatory responseGO:05072710.5ACE2, MAS1, AHSG
10regulation of blood pressureGO:00821710.5NPR2, NPR1, NPPC
11positive regulation of cGMP biosynthetic processGO:03082810.5NPPC, NPR1
12cell surface receptor signaling pathwayGO:00716610.5NPR1, NPR2, AGER, ADRB2
13angiotensin maturationGO:00200310.5ATP6AP2, ACE2
14negative regulation of multicellular organism growthGO:04001510.5ADRB1, ADRB2
15regulation of blood vessel sizeGO:05088010.4NPPC, NPR1
16skeletal system developmentGO:00150110.3AHSG, DLX5, LECT1
17regulation of bone mineralizationGO:03050010.3MGP, AHSG
18regulation of vasoconstrictionGO:01922910.1ACE2, NPPC

Molecular functions related to Aortic Valve Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1natriuretic peptide receptor activityGO:01694110.4NPR2, NPR1
2hormone bindingGO:04256210.4NPR2, NPR1
3peptide hormone bindingGO:01704610.3NPR2, ACE2, MAS1, NPR1
4norepinephrine bindingGO:05138010.3ADRB2, ADRB1
5guanylate cyclase activityGO:00438310.1NPR1, NPR2

Products for genes affiliated with Aortic Valve Stenosis

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Sources for Aortic Valve 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet