MCID: THR003
MIFTS: 56

Thoracic Aortic Aneurysm malady

Cardiovascular diseases category

Summaries for Thoracic Aortic Aneurysm

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3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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CDC:3 An aortic aneurysm is a balloon-like bulge in the aorta, the large artery that carries blood from the heart through the chest and torso.

MalaCards: Thoracic Aortic Aneurysm, also known as thoracic aortic aneurysm without mention of rupture, is related to aortic aneurysm and aortic disease. An important gene associated with Thoracic Aortic Aneurysm is ACTA2 (actin, alpha 2, smooth muscle, aorta), and among its related pathways are Integrin Pathway and NFAT and Cardiac Hypertrophy. The compounds taad and thymosin beta4 have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and lung, and related mouse phenotypes are respiratory system and adipose tissue.

Wikipedia:63 A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the thorax. more...

Description from OMIM:46 132900,611788

Aliases & Classifications for Thoracic Aortic Aneurysm

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Sources:
8Disease Ontology, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 46OMIM, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

thoracic aortic aneurysm 8
thoracic aortic aneurysm without mention of rupture 8
thoracic aortic aneurysm without rupture 8
aortic aneurysm, thoracic 60
aortic aneurysm thoracic 44


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Disease Ontology8 DOID:14004
NCIt39 C27001
MeSH34 D017545
ICD9CM27 441.2
ICD1025 I71.2

Related Diseases for Thoracic Aortic Aneurysm

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Aortic Aneurysm, Familial Thoracic 4 family:

thoracic aortic aneurysm Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 2 Aortic Aneurysm, Familial Thoracic 8
Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 1

Diseases related to Thoracic Aortic Aneurysm via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1aortic aneurysm32.2TGFBR1, TGFBR2, ACTA2, FBN1
2aortic disease31.1FBN1
3aneurysm disease31.1MMP8, TGFBR2, COL3A1, FBN1
4marfan syndrome30.9FBN1, COL3A1, TGFBR2, TGFBR1
5thoracic aortic aneurysms and aortic dissections30.6TGFBR1, MYH11, ACTA2, TGFBR2
6intracranial aneurysm30.6COL3A1
7lung cancer30.5THBS2, TGFBR2, SMAD3, CASP4, MMP8, GPX1
8ehlers-danlos syndrome30.2FBN1, COL3A1
9osteoarthritis30.2MMP8
10loeys-dietz syndrome30.2TGFBR2, COL3A1, FBN1, ACTA2, TGFBR1
11arthritis30.2S100A12, FBN1, MMP8, ADAMTS1
12atherosclerosis30.2MMP8, GPX1, MYH11, FBN1, ADAMTS1
13rheumatoid arthritis30.2TGFBR2, MMP8, MMP19, S100A12
14squamous cell carcinoma30.2THBS2, TGFBR2, GPX1, CASP4, SMAD3, TGFBR1
15dissecting aortic aneurysm11.1
16ruptured thoracic aortic aneurysm11.1
17ruptured aortic aneurysm11.0
18familial thoracic aortic aneurysm and dissection10.9
19paraplegia10.6
20ischemia10.6
21subclavian artery aneurysm10.6
22cerebritis10.6
23abdominal aortic aneurysm10.6
24coronary aneurysm10.5
25esophagitis10.5
26aortitis10.5
27spinal cord ischemia10.5
28heart aneurysm10.4
29patent ductus arteriosus10.4
30coronary artery disease10.4
31wiskott-aldrich syndrome10.4
32mediastinitis10.4
33thoracic cancer10.4
34aortic aneurysm, familial thoracic 410.4
35laryngitis10.3
36pneumonia10.3
37marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.3
38tgfbr1-related thoracic aortic aneurysms and aortic dissections10.3
39tgfbr2-related thoracic aortic aneurysms and aortic dissections10.3
40acta2-related thoracic aortic aneurysms and aortic dissections10.3
41myh11-related thoracic aortic aneurysms and aortic dissections10.3
42fbn1-related thoracic aortic aneurysms and aortic dissections10.3
43mylk-related thoracic aortic aneurysms and aortic dissections10.3
44smad3-related thoracic aortic aneurysms and aortic dissections10.3
45critical limb ischemia10.1
46systemic lupus erythematosus10.1
47carotid artery dissection10.1
48takayasu's arteritis10.1
49gastric ulcer10.1
50ruptured abdominal aortic aneurysm10.1

Graphical network of the top 20 diseases related to Thoracic Aortic Aneurysm:



Diseases related to thoracic aortic aneurysm

Clinical Features for Thoracic Aortic Aneurysm

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Sources:
46OMIM
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Clinical features from OMIM:

132900,611788

Drugs & Therapeutics for Thoracic Aortic Aneurysm

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

Search CenterWatch for Thoracic Aortic Aneurysm

Drug clinical trials:

Search ClinicalTrials for Thoracic Aortic Aneurysm

Search NIH Clinical Center for Thoracic Aortic Aneurysm

Search CenterWatch for Thoracic Aortic Aneurysm

Genetic Tests for Thoracic Aortic Aneurysm

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Anatomical Context for Thoracic Aortic Aneurysm

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32MalaCards
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MalaCards organs/tissues related to Thoracic Aortic Aneurysm:

32
Heart, Spinal cord, Lung, Smooth muscle, Testes, Brain, Kidney, Thyroid

Animal Models for Thoracic Aortic Aneurysm or affiliated genes

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36MGI
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Publications for Thoracic Aortic Aneurysm

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50PubMed
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Articles related to Thoracic Aortic Aneurysm:

(show top 50)    (show all 567)
idTitleAuthorsYear
1
Hybrid treatment for thoracic aortic aneurysm combined with aberrant right subclavian artery. (23407812)
2013
2
Endovascular treatment of thoracic aortic aneurysm: a single-center experience. (23790762)
2013
3
Hybrid treatment option for aortic arch anomalies and descending thoracic aortic aneurysm. (23796094)
2013
4
Important role of the angiotensin II pathway in producing matrix metalloproteinase-9 in human thoracic aortic aneurysms. (23295196)
2013
5
Oxidative stress modulates vascular smooth muscle cell phenotype via CTGF in thoracic aortic aneurysm. (23985903)
2013
6
Three-dimensional sensitivity assessment of thoracic aortic aneurysm wall stress: a probabilistic finite-element study. (23921161)
2013
7
Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-I^ signaling and vascular smooth muscle cell contractility. (23868829)
2013
8
Rupture of an ascending and descending thoracic aortic aneurysm causing tension hemothorax: a case report. (20537833)
2012
9
Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm. (21964541)
2012
10
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. (21248741)
2011
11
Rapid novel aortic arch replacement for thoracic aortic aneurysm using three continuous sutures and a felt cylindrical collar. (22436713)
2011
12
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. (21815248)
2011
13
Assessment of intraoperative motor evoked potentials for predicting postoperative paraplegia in thoracic and thoracoabdominal aortic aneurysm repair. (21113632)
2011
14
Innominate artery dissection with presentation of sudden right frontal desaturation detected by cerebral oximetry in complicated thoracic aortic aneurysm repair surgery: a case report. (21377079)
2011
15
Endovascular treatment of ruptured thoracic aortic aneurysm in patients older than 75 years. (21109470)
2011
16
Effectiveness of combination of losartan potassium and doxycycline versus single-drug treatments in the secondary prevention of thoracic aortic aneurysm in Marfan syndrome. (20189193)
2010
17
Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation. (20689142)
2010
18
An unusual presentation of thoracic aortic aneurysm rupturing into the esophagus: an autopsy case report. (20087793)
2010
19
Endovascular repair of descending thoracic aortic aneurysm: review of literature. (20226348)
2009
20
A population-based analysis of endovascular versus open thoracic aortic aneurysm repair. (19307086)
2009
21
Differential expression of collagen type V and XI alpha-1 in human ascending thoracic aortic aneurysms. (19632402)
2009
22
Altered transforming growth factor-beta signaling in a murine model of thoracic aortic aneurysm. (18434745)
2008
23
Statins are associated with decreased mortality in abdominal, but not in thoracic aortic aneurysm patients undergoing endovascular repair: propensity score-adjusted analysis. (18690591)
2008
24
Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. (18544034)
2008
25
Paradoxical orthodeoxia in a patient with a large thoracic aortic aneurysm. (17450266)
2007
26
Images in clinical medicine. Evolution of a thoracic aortic aneurysm. (17377163)
2007
27
Endovascular thoracic aortic aneurysm repair with concomitant myocardial and carotid revascularization. (17588370)
2007
28
Anatomic exclusion from endovascular repair of thoracic aortic aneurysm. (17350215)
2007
29
In situ aortic allograft insertion to repair a primary aortoesophageal fistula due to thoracic aortic aneurysm. (16376217)
2005
30
Anastomotic pseudoaneurysm occurred at long time after surgery for atherosclerotic thoracic aortic aneurysm. (15077851)
2004
31
Newly mapped gene for thoracic aortic aneurysm and dissection. (15529063)
2004
32
Regarding "Challenges of endovascular tube graft repair of thoracic aortic aneurysm: midterm follow-up and lessons learned". (15134088)
2004
33
Endovascular treatment of a traumatic thoracic aortic aneurysm initially presenting as acute critical limb ischemia. (15224466)
2004
34
Large ascending thoracic aortic aneurysm with protruding pseudoaneurysm. (15745309)
2004
35
Thoracic aortic aneurysm occurring at a coarctation repair site. (12717492)
2003
36
Reversal of acute paraplegia with cerebrospinal fluid drainage after endovascular thoracic aortic aneurysm repair. (11685002)
2001
37
Thoracic aortic aneurysm complicated with severe coronary arterial occlusive disease. (10824481)
2000
38
Cerebrospinal fluid drainage to reverse paraplegia after endovascular thoracic aortic aneurysm repair. (10821099)
2000
39
Special cerebral perfusion in surgery for the ruptured thoracic aortic aneurysm. (10522790)
1999
40
Radiological case of the month. Thoracic aortic aneurysm as a late complication of an umbilical arterial catheter. (10555725)
1999
41
Preliminary report on prediction of spinal cord ischemia in endovascular stent graft repair of thoracic aortic aneurysm by retrievable stent graft. (9576215)
1998
42
Three different approaches to spinal cord monitoring for the prediction of spinal cord ischemia during thoracic aortic aneurysm surgery. (9828291)
1998
43
Acute extensive necrosis of the visceral organs after repair of a ruptured thoracic aortic aneurysm. (8227110)
1993
44
Successful management of aortoesophageal fistula due to thoracic aortic aneurysm. (1953145)
1991
45
Compression of left main bronchus and left pulmonary artery by thoracic aortic aneurysm. (3496747)
1987
46
Correction of thoracic aortic aneurysm-bronchial fistula. (2979956)
1987
47
Application and limitation of somatosensory evoked potential monitoring during thoracic aortic aneurysm surgery: a case report. (4061927)
1985
48
Esophageal obstruction secondary to a tortuous thoracic aortic aneurysm: case report. (7254171)
1981
49
Angiographic demonstration of a thoracic aortic aneurysm with rupture into the pulmonary artery. (956266)
1976
50
Posttraumatic thoracic aortic aneurysm: recognition and treatment. (5031592)
1972

Genetic Variations for Thoracic Aortic Aneurysm

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Expression for genes affiliated with Thoracic Aortic Aneurysm

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thoracic Aortic Aneurysm

Search GEO for disease gene expression data for Thoracic Aortic Aneurysm.

Pathways for genes affiliated with Thoracic Aortic Aneurysm

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Sources:
51QIAGEN, 29KEGG, 53Reactome, 52R&D Systems, 59Tocris Bioscience, 37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore
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Pathways related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3TGFBR2, TGFBR1
2
Hide members
10.3TGFBR2, TGFBR1
3
Hide members
10.3TGFBR1, TGFBR2
410.3TGFBR1, TGFBR2
510.3TGFBR1, TGFBR2
610.3TGFBR1, TGFBR2
7
Hide members
10.3TGFBR1, TGFBR2
8
Hide members
10.3TGFBR1, TGFBR2
9
Hide members
10.3TGFBR2, TGFBR1
10
Hide members
10.3TGFBR1, TGFBR2
1110.3ACTA2, ACTA1
1210.2SMAD3, TGFBR2, TGFBR1
1310.2TGFBR1, TGFBR2, SMAD3
1410.2SMAD3, TGFBR2, TGFBR1
15
Hide members
10.2TGFBR1, TGFBR2, SMAD3
16
Transcription Androgen Receptor nuclear signaling
Hide members
10.2TGFBR1, TGFBR2, SMAD3
17
Development TGF-beta receptor signaling
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10.2TGFBR1, TGFBR2, SMAD3
1810.2TGFBR1, TGFBR2, SMAD3
19
Hide members
10.2SMAD3, TGFBR2, TGFBR1
20
Cytokine production by Th17 cells in CF (Mouse model)
10.2SMAD3, TGFBR2, TGFBR1
2110.2TGFBR1, TGFBR2, SMAD3
22
Hide members
10.2TGFBR1, TGFBR2, SMAD3
2310.2TGFBR1, TGFBR2, SMAD3
2410.2ACTA2, MYH11, MYLK
25
Hide members
10.1MMP19, MMP8, COL3A1
2610.1TGFBR1, TGFBR2, ACTA2, ACTA1
27
Hide members
10.1THBS2, MMP19, MMP8
28
Hide members
10.1MYH11, ACTA1, ACTA2, TGFBR2
29
Cell adhesion Integrin-mediated cell adhesion and migration
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10.0MYLK, MYH11, ACTA1, ACTA2
30
Hide members
10.0MYLK, MYH11, ACTA1, ACTA2
31
Hide members
10.0MYLK, MYH11, ACTA1, ACTA2
32
Hide members
10.0MYLK, MYH11, ACTA1, ACTA2
33
Hide members
10.0MMP19, MMP8, FBN1, COL3A1
34
Hide members
9.9COL3A1, FBN1, ACTA1, ACTA2, TGFBR1
35
Cell adhesion ECM remodeling
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9.9COL3A1, MMP8, MMP19, ADAMTS1
36
Hide members
9.9CASP4, MYLK, ACTA1, ACTA2, TGFBR1
37
Hide members
9.8MMP8, MMP19, ACTA1, ACTA2, TGFBR2, TGFBR1
38
Hide members
9.7CASP4, MYLK, MYH11, ACTA1, ACTA2, TGFBR2
39
Hide members
9.6COL3A1, FBN1, MYLK, MYH11, ACTA1, ACTA2
40
Hide members
9.6ACTA2, COL3A1, FBN1, MYLK, MYH11, MMP8

Compounds for genes affiliated with Thoracic Aortic Aneurysm

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB
See all sources

Compounds related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1taad4410.5TGFBR2, FBN1
2thymosin beta45910.3ACTA1, ACTA2
3ck 6665910.2ACTA1, ACTA2
4tgf beta14410.1TGFBR1, FBN1, THBS2, SMAD3, ADAMTS1, TGFBR2
5ly2940024410.1TGFBR1, TGFBR2, SMAD3, MYH11
6progesterone44 59 28 11 2414.0FBN1, MYH11, MMP8, ADAMTS1, TGFBR2, TGFBR1
7latrunculin a59 1111.0ACTA2, ACTA1
8nitric oxide44 11 2411.9MYLK, MYH11, MMP8, GPX1, SMAD3, TGFBR2
9vegf449.9MPL, MYH11, MMP8, THBS2, SMAD3, TGFBR2
10threonine449.9MPL, MYLK, GPX1, SMAD3, TGFBR2, TGFBR1
11oligonucleotide449.9S100A12, MMP8, THBS2, SMAD3, TGFBR2, TGFBR1
12alanine449.9FBN1, MPL, MYLK, MMP8, GPX1, SMAD3
13serine449.8FBN1, MPL, MYLK, MYH11, MMP8, ACTA1
14glucose449.8S100A12, MYLK, MMP8, GPX1, SMAD3, TGFBR2
15cysteine449.8CASP4, FBN1, MPL, MMP8, GPX1, THBS2
16lipid449.7MFGE8, FBN1, MMP8, GPX1, ACTA1, SMAD3
17calcium44 49 11 2412.3CASP4, S100A12, FBN1, MYLK, MMP8, MMP19

GO Terms for genes affiliated with Thoracic Aortic Aneurysm

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16Gene Ontology
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Cellular components related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:07002210.3TGFBR2, TGFBR1
2receptor complexGO:04323510.3TGFBR1, TGFBR2, SMAD3
3smooth muscle contractile fiberGO:03048510.3MYH11, ACTA2
4stress fiberGO:00172510.0ACTA1, MYH11, MYLK
5basement membraneGO:0056049.8FBN1, THBS2, ADAMTS1
6extracellular regionGO:0055769.5THBS2, MMP19, MMP8, FBN1, MFGE8, S100A12

Biological processes related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:07072310.5TGFBR1, TGFBR2
2embryonic cranial skeleton morphogenesisGO:04870110.4TGFBR1, TGFBR2, SMAD3
3negative regulation of transforming growth factor beta receptor signaling pathwayGO:03051210.4SMAD3, TGFBR2, TGFBR1
4ovulation from ovarian follicleGO:00154210.4ADAMTS1, MMP19
5wound healingGO:04206010.3TGFBR1, TGFBR2, SMAD3, COL3A1
6muscle contractionGO:00693610.3MYLK, MYH11, ACTA1, ACTA2
7transforming growth factor beta receptor signaling pathwayGO:00717910.3COL3A1, SMAD3, TGFBR2, TGFBR1
8heart developmentGO:00750710.3TGFBR1, TGFBR2, FBN1, COL3A1
9pathway-restricted SMAD protein phosphorylationGO:06038910.3TGFBR2, TGFBR1
10collagen catabolic processGO:03057410.2COL3A1, MMP8, MMP19
11extracellular matrix disassemblyGO:02261710.2MMP19, MMP8, COL3A1
12skeletal system developmentGO:00150110.2TGFBR1, FBN1, COL3A1
13skeletal muscle fiber developmentGO:04874110.1GPX1, ACTA1
14extracellular matrix organizationGO:03019810.1COL3A1, FBN1, MMP8, MMP19
15regulation of neuron apoptotic processGO:0435239.9SIGMAR1, GPX1

Molecular functions related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:00467510.3TGFBR1, TGFBR2
2transforming growth factor beta bindingGO:05043110.3TGFBR1, TGFBR2
3SMAD bindingGO:04633210.3TGFBR1, TGFBR2, COL3A1
4transforming growth factor beta-activated receptor activityGO:00502410.2TGFBR2, TGFBR1
5calcium ion bindingGO:0055099.8THBS2, MMP19, MMP8, FBN1, S100A12
6metalloendopeptidase activityGO:0042229.8ADAMTS1, MMP19, MMP8

Products for genes affiliated with Thoracic Aortic Aneurysm

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  • Antibodies
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Sources for Thoracic Aortic Aneurysm

About this section
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