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 Levobunolol and cicloprolol 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, 60UMLS, 44Novoseek, 48Orphanet, 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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Sources:
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, Bone, Brain, Smooth muscle, Whole blood, 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
Severe Aortic Valve Stenosis With Low-gradient and Preserved Ejection Fraction: A Misclassification Issue? (23228344)
2013
2
Assessment of coronary artery disease using coronary computed tomography angiography in patients with aortic valve stenosis referred for surgical aortic valve replacement. (23073274)
2013
3
Mini-Konno procedure using a 10 mm handmade valve for pulmonary atresia with intact ventricular septum and severe aortic stenosis. (24336795)
2013
4
Aortic valve stenosis in community medical practice: determinants of outcome and implications for aortic valve replacement. (22336754)
2012
5
Plasma fibulin-1 is linked to restrictive filling of the left ventricle and to mortality in patients with aortic valve stenosis. (23316326)
2012
6
Severe aortic or pulmonary valve stenosis in premature infants. (22464565)
2012
7
Increased transcript level of poly(ADP-ribose) polymerase (PARP-1) in human tricuspid compared with bicuspid aortic valves correlates with the stenosis severity. (22450322)
2012
8
Factor XIII and alternatively activated macrophages - new targets in aortic valve stenosis. (23138561)
2012
9
Pathogenesis and pathophysiology of aortic valve stenosis in adults. (22129836)
2011
10
Comparison of magnetic resonance imaging of aortic valve stenosis and aortic root to multimodality imaging for selection of transcatheter aortic valve implantation candidates. (21529729)
2011
11
Ramipril retards development of aortic valve stenosis in a rabbit model: mechanistic considerations. (20958293)
2011
12
von Willebrand factor abnormalities in aortic valve stenosis: Pathophysiology and impact on bleeding. (21544311)
2011
13
Myocardial deformation in aortic valve stenosis: relation to left ventricular geometry. (19710026)
2010
14
Prognosis of octogenarians with severe aortic valve stenosis at high risk for cardiovascular surgery. (20889990)
2010
15
Increased biglycan in aortic valve stenosis leads to the overexpression of phospholipid transfer protein via Toll-like receptor 2. (20382708)
2010
16
Current Problems in Cardiology. Statins for calcific aortic valve stenosis: into oblivion after SALTIRE and SEAS? An extensive review from bench to bedside. Foreword. (20451758)
2010
17
Vascular endothelial growth factor-secreting mast cells and myofibroblasts: a novel self-perpetuating angiogenic pathway in aortic valve stenosis. (20299690)
2010
18
Surgical considerations on the use of the percutaneous ventricular assist device TandemHeart in critical aortic valve stenosis. (19169999)
2009
19
Left ventricular filling pressure estimation at rest and during exercise in patients with severe aortic valve stenosis: comparison of echocardiographic and invasive measurements. (19269785)
2009
20
Correlates of valvular ossification in patients with aortic valve stenosis. (20443935)
2009
21
Aortic valve stenosis. (19524771)
2009
22
Nomograms for severity of aortic valve stenosis using peak aortic valve pressure gradient and left ventricular ejection fraction. (19155263)
2009
23
Functional differences of left ventricular hypertrophy induced by either arterial hypertension or aortic valve stenosis. (18471464)
2008
24
Aortic valve stenosis and regurgitation: an overview of management. (18431353)
2008
25
A new methodological approach to assess cardiac work by pressure-volume and stress-length relations in patients with aortic valve stenosis and dilated cardiomyopathy. (17721708)
2008
26
Hypertension in aortic valve stenosis--a Trojan horse. (18586663)
2008
27
Low-gradient aortic valve stenosis: value and limitations of dobutamine stress testing. (16621881)
2007
28
Patients with aortic valve stenosis and Type 2 diabetes have similar coronary flow reserve and aortic distensibility compared with non-diabetic patients with aortic valve stenosis. (17137673)
2007
29
The Heyde syndrome: proposal for a unifying concept explaining the association of aortic valve stenosis, gastrointestinal angiodysplasia and bleeding. (16740325)
2007
30
A medical therapy for aortic valve sclerosis and aortic valve stenosis? Rationale of the ASSIST study (Asymptomatic aortic Sclerosis/Stenosis: Influence of STatins): a large, observational, prospective, multicenter study of the Italian Society of Cardiovascular Echography. (16801806)
2006
31
Bilateral ostial coronary stenosis and rheumatic aortic valve stenosis. (16885079)
2006
32
Development of mild aortic valve stenosis in a rabbit model of hypertension. (16750700)
2006
33
Fetal aortic valve stenosis and the evolution of hypoplastic left heart syndrome: patient selection for fetal intervention. (16534003)
2006
34
Multislice computed tomography for detection of patients with aortic valve stenosis and quantification of severity. (16580530)
2006
35
Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. (16627805)
2006
36
Using cardiac magnetic resonance tomography for assessment of aortic valve area in aortic valve stenosis. (17072778)
2006
37
Prognostic value of N-terminal pro-B-type natriuretic peptide for conservatively and surgically treated patients with aortic valve stenosis. (16740919)
2006
38
Is balloon aortic valvuloplasty a feasible treatment for neonates and young infants with aortic valve stenosis? (16265557)
2005
39
Prognostic value of carotid intima-media thickness in detection of coronary atherosclerosis in patients with calcified aortic valve stenosis. (15784764)
2005
40
Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis and calcific mitral valve. (15473493)
2004
41
Pressure recovery in pediatric aortic valve stenosis. (14627313)
2003
42
Aortic valve stenosis induced by left ventricular assist device (LVAD). (11250324)
2001
43
Accuracy of computer-based quantification of aortic valve stenosis. (9600516)
1998
44
Stepwise Inoue balloon catheter valvuloplasty for congenital aortic valve stenosis: comparison with standard balloon catheter technique. (8778696)
1996
45
Discrete subaortic stenosis. Operative age and gradient as predictors of late aortic valve incompetence. (8321008)
1993
46
Noninvasive assessment of pulmonary valve stenosis, aortic valve stenosis and coarctation of the aorta in critically ill neonates. (3946241)
1986
47
Valved apico-aortic conduit for relief of left ventricular hypertension caused by discrete subaortic stenosis in dogs. (6822461)
1983
48
Early aortic valve closure in combined idiopathic hypertrophic subaortic stenosis and discrete subaortic stenosis. (7189321)
1980
49
Echocardiographic screening to assess the severity of congenital aortic valve stenosis in children. (453049)
1979
50
Congenital cardiovascular abnormalities usually "silent" until adulthood: morphologic features of the floppy mitral valve, valvular aortic stenosis, discrete subvalvular aortic stenosis, hypertrophic cardiomyopathy, sinus of Valsalva aneurysm, and the Marfan syndrome. (387236)
1979

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
1Levobunolol1110.8ADRB1, ADRB2
2cicloprolol2810.8ADRB2, ADRB1
3lk 204-5452810.8ADRB1, ADRB2
4nihp2810.8ADRB2, ADRB1
5Metipranolol1110.8ADRB2, ADRB1
6nip2810.8ADRB2, ADRB1
7Pirbuterol1110.8ADRB2, ADRB1
8sr59230a2810.8ADRB1, ADRB2
9cgp 1217728 4411.8ADRB1, ADRB2
10isoprenaline2810.8ADRB1, ADRB2
11Erythrityl Tetranitrate1110.8NPR1, NPR2
12[125i]icyp2810.8ADRB2, ADRB1
13dopexamine4410.8ADRB1, ADRB2
14Arbutamine1110.8ADRB2, ADRB1
15Bevantolol1110.8ADRB2, ADRB1
16bupranolol28 44 1112.8ADRB2, ADRB1
17Oxprenolol1110.8ADRB1, ADRB2
18nadolol44 28 1112.8ADRB1, ADRB2
19icyp4410.8ADRB2, ADRB1
20Nesiritide1110.8NPR1, NPR2
21penbutolol44 1111.8ADRB1, ADRB2
22noradrenaline2810.8ADRB1, ADRB2
23zinterol44 2811.8ADRB1, ADRB2
24sotalol44 1111.7ADRB1, ADRB2
25carteolol44 1111.7ADRB2, ADRB1
26Acebutolol1110.7ADRB2, ADRB1
27timolol44 28 49 1113.7ADRB1, ADRB2
28alprenolol44 28 1112.7ADRB2, ADRB1
29Bopindolol1110.7ADRB1, ADRB2
30guanylate4410.7NPPC, ADRB1, NPR1, NPR2
31bucindolol49 4411.7ADRB1, ADRB2
32c-type natriuretic peptide (1-22) (human, rat, swine)5910.7NPR2, NPR1
33brain natriuretic peptide (1-32) (human)5910.7NPR1, NPR2
34betaxolol44 28 1112.7ADRB1, ADRB2
35atrial natriuretic factor (1-28) (rat)5910.7NPR1, NPR2
36forskolin44 49 1112.7NPPC, NPR1, ADRB2, ADRB1
37labetalol44 1111.6ADRB1, ADRB2
38atrial natriuretic factor (1-28) (human, porcine)5910.6NPR1, NPR2
39nebivolol44 1111.6ADRB2, ADRB1
40urodilatin4410.6NPPC, NPR1
41bisoprolol44 49 1112.6ADRB2, ADRB1
42dexamethasone44 49 28 1113.5BGN, NPR2, NPPC, DLX5, ADRB1, ADRB2
43pseudoephedrine44 11 2412.5ADRB2, ADRB1
44nitric oxide44 11 2412.5ACE2, ADRB1, AGER, JAG1, NPPC, NPR2
45dobutamine44 28 1112.5ADRB1, ADRB2
46clenbuterol44 1111.5ADRB1, ADRB2
47pindolol44 28 1112.4ADRB2, ADRB1
48Ephedra1110.4ADRB2, ADRB1
49Droxidopa1110.3ADRB2, ADRB1
50glucose449.9AGER, ADRB2, ADRB1, NPPC, PLTP, AHSG

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:00618210.6NPPC, NPR2, NPR1
4receptor guanylyl cyclase signaling pathwayGO:00716810.6NPR1, NPR2, NPPC
5regulation of vasodilationGO:04231210.6NPR1, ACE2, ADRB2
6negative regulation of smooth muscle contractionGO:04598610.6ADRB2, ADRB1
7diet induced thermogenesisGO:00202410.6ADRB2, ADRB1
8ossificationGO:00150310.6NPR2, NPPC, MGP, AHSG
9regulation of inflammatory responseGO:05072710.5ACE2, AHSG, MAS1
10regulation of blood pressureGO:00821710.5NPR1, NPR2, NPPC
11positive regulation of cGMP biosynthetic processGO:03082810.5NPPC, NPR1
12cell surface receptor signaling pathwayGO:00716610.5NPR1, NPR2, AGER, ADRB2
13negative regulation of multicellular organism growthGO:04001510.5ADRB1, ADRB2
14angiotensin maturationGO:00200310.4ATP6AP2, ACE2
15regulation of blood vessel sizeGO:05088010.4NPPC, NPR1
16skeletal system developmentGO:00150110.3LECT1, DLX5, AHSG
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:01704610.3ACE2, MAS1, NPR2, NPR1
4norepinephrine bindingGO:05138010.3ADRB1, ADRB2
5guanylate cyclase activityGO:00438310.1NPR2, NPR1

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