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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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, Brain, Kidney, Thyroid, Testes

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
Open-stent grafting with a GORE TAG thoracic endoprosthesis for an extended severely atheromatous thoracic aortic aneurysm: report of a case. (22983735)
2013
2
Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin. (23993239)
2013
3
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm. (24193348)
2013
4
CASE 0-2013Successful Open Repair of an Extensive Descending Thoracic Aortic Aneurysm in a Complex Patient. (24094566)
2013
5
Very rare survival case of elective surgery for a ruptured thoracic aortic aneurysm. (23610852)
2012
6
In search of a new therapeutic target for the treatment of genetically triggered thoracic aortic aneurysms and cardiovascular conditions: insights from human and animal lathyrism. (20547706)
2010
7
Long-term result of hybrid procedure for an extensive thoracic aortic aneurysm in Takayasu arteritis: a case report. (20406457)
2010
8
Endovascular repair of thoracic aortic aneurysm. (22419919)
2010
9
Single-stage repair of extended thoracic aortic aneurysm. (19074457)
2009
10
Acute aortic syndromes and thoracic aortic aneurysm. (19411444)
2009
11
Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis. (18765947)
2009
12
Endovascular thoracic aortic aneurysm repair without angiography. (22436901)
2009
13
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). (19639654)
2009
14
Primary aortoesophageal fistula due to thoracic aortic aneurysm: successful surgical treatment. (20069092)
2009
15
Aortic angiosarcoma masquerading as a thoracic aortic aneurysm. (19703752)
2009
16
Catastrophic gastrointestinal bleeding caused by aortoesophageal fistula secondary to mycotic thoracic aortic aneurysm. (21887161)
2009
17
I-131 visualization of thoracic aortic aneurysm after radioiodine administration for thyroid carcinoma. (18645377)
2008
18
Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. (18954631)
2008
19
Population-based outcomes of open descending thoracic aortic aneurysm repair. (18586435)
2008
20
Descending thoracic aortic aneurysm presenting as left sided hemorrhagic pleural effusion. (17694792)
2007
21
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (17994018)
2007
22
Temporal disparity in the induction of matrix metalloproteinases and tissue inhibitors of metalloproteinases after thoracic aortic aneurysm formation. (17000289)
2006
23
Postoperative chylothorax in patients with a thoracic aortic aneurysm. (16702933)
2006
24
Paraplegia and paraparesis after descending thoracic aortic aneurysm repair: a risk factor analysis. (16823330)
2006
25
Thoracic aortic compliance as a determinant of rupture of abdominal aortic aneurysms. (17182957)
2006
26
An asymptomatic thoracic aortic aneurysm mimicking an intrathoracic goiter. (17199444)
2006
27
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13. (15998682)
2005
28
Endovascular repair of descending thoracic aortic aneurysm: an evidence-based analysis. (23074469)
2005
29
Genetic basis of thoracic aortic aneurysms and aortic dissections. (16273536)
2005
30
Descending thoracic aortic aneurysm repair with the aid of partial cardiopulmonary bypass: heparin-coated circuits versus nonheparin-coated circuits. (15787624)
2005
31
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. (14722581)
2004
32
Surgical resection of sequential thoracic aortic aneurysms in Wiskott-Aldrich syndrome. (17670256)
2004
33
Thoracic aortic aneurysm associated with pseudocoarctation of the aorta. (12561094)
2002
34
Surgical treatment for a ruptured thoracic aortic aneurysm. (11233245)
2001
35
One-stage operation for descending thoracic aortic aneurysm and left lung cancer: a case report. (11578266)
2001
36
Endovascular thoracic aortic aneurysm repair using a single catheter for spinal anesthesia and cerebrospinal fluid drainage. (11254848)
2001
37
Combined grafting of thoracic aortic aneurysm and cardiac repair using continuous cold-blood coronary perfusion. (11257764)
2001
38
A novel modification of elephant trunk technique using a single four-branched arch graft for extensive thoracic aortic aneurysm. (10925238)
2000
39
Subarachnoid venous hemorrhage in a patient with retrograde cerebral perfusion during surgery for a thoracic aortic aneurysm. (14564571)
2000
40
Right axillary cannulation in the left thoracotomy for thoracic aortic aneurysm. (10921741)
2000
41
Analysis of the elephant trunk method in patients with extensive thoracic aortic aneurysm. (10658378)
1999
42
Thoracic aortic aneurysm: a new etiology of pulmonary cavity. (10350119)
1999
43
Hypothermic circulatory arrest does not increase the risk of ascending thoracic aortic aneurysm resection. (9605661)
1998
44
A case of ruptured descending thoracic aortic aneurysm into the right pleural cavity: importance of preoperative drainage of the right pleural cavity. (9972919)
1998
45
Endovascular covered stent repair of an intercostal artery patch dehiscence from a descending thoracic aortic aneurysm graft. (8800234)
1996
46
Rupture of a dissecting thoracic aortic aneurysm into the pulmonary artery: successful surgical repair. (8745196)
1995
47
Laryngeal compression and stridor as the presenting feature of ruptured thoracic aortic aneurysm. Report of two cases. (2808511)
1989
48
Ruptured thoracic aortic aneurysm with aorto-esophageal fistula. (3950966)
1986
49
Thoracic aortic aneurysm causing acute bronchospasm. (7226871)
1981
50
Thoracic aortic aneurysm. Case report of fatal rupture. (13886476)
1961

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