MCID: ABD003
MIFTS: 71

Abdominal Aortic Aneurysm malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Abdominal Aortic Aneurysm

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42NIH Rare Diseases, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Abdominal aortic aneurysms (aaas) are aneurysms that occur in the part of the aorta that passes through the abdomen. they may occur at any age, but are most common in men between 50 and 80 years of age. many people with an aaa have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. if the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. about 20% of aaas eventually rupture and are often fatal. the condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. when more than one family member is affected, it may be considered "familial abdominal aortic aneurysm." treatment depends on the size of the aneurysm and may include blood pressure medications, or surgery to repair the aneurysm. last updated: 2/25/2014

MalaCards: Abdominal Aortic Aneurysm, also known as aortic aneurysm, familial abdominal 1, is related to ruptured abdominal aortic aneurysm and aneurysm disease. An important gene associated with Abdominal Aortic Aneurysm is COL3A1 (collagen, type III, alpha 1), and among its related pathways are Collagen biosynthesis and modifying enzymes and Cell adhesion ECM remodeling. The compounds retinoic acid and cysteine have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and skin, and related mouse phenotypes are immune system and homeostasis/metabolism.

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.

Wikipedia:63 Abdominal aortic aneurysm (also known as AAA, pronounced \"triple-a\") is a localized dilatation... more...

Description from OMIM:46 611891,100070,614375,609782

Aliases & Classifications for Abdominal Aortic Aneurysm

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Aliases & Descriptions:

abdominal aortic aneurysm 8 42 10
aortic aneurysm, familial abdominal 1 8 9 46
aortic aneurysm, familial abdominal 46
familial abdominal aortic aneurysm 48
aortic aneurysm, abdominal 60
aneurysm, abdominal aortic 42
aortic aneurysm abdominal 44


External Ids:

Disease Ontology8 DOID:7693
MeSH34 D017544
NCIt39 C27000
ICD10 via Orphanet26 I71.4
ICD1025 I71.4

Related Diseases for Abdominal Aortic Aneurysm

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17GeneCards, 18GeneDecks
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Diseases in the Abdominal Aortic Aneurysm family:

Aortic Aneurysm, Familial Abdominal 2 Aortic Aneurysm, Familial Abdominal, 4

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

(show top 50)    (show all 222)
idRelated DiseaseScoreTop Affiliating Genes
1ruptured abdominal aortic aneurysm32.2AAAS
2aneurysm disease31.5ELANE, COL3A1, MMP9, MMP12, ELN, MMP2
3ischemia31.2MMP3, XDH
4hypertension30.9F2, MMP9
5thoracic aortic aneurysm30.9MMP2, ELN
6pancreatitis30.8IL6, ELANE
7vascular disease30.7F3, ELN, ELANE, XDH, MMP9
8obesity30.6IL6, MMP3
9coronary artery disease30.5MMP12, MMP13, MMP3, F3, IL6, COL3A1
10pneumonia30.5IL6, ELANE, MMP12, XDH
11myocardial infarction30.5MMP13, F3, COL3A1
12disseminated intravascular coagulation30.5ELANE, F2, F3
13atherosclerosis30.4MMP2, MMP12, MMP9, PLA2G10, MMP3, MMP13
14colorectal cancer30.4XDH, MMP2, MMP12, MMP13, MMP9
15intracranial aneurysm30.4COL3A1, ELANE, ELN
16peritonitis30.4F2, IL6, COL3A1
17colon cancer30.4MMP13, MMP9, MMP2, MMP3
18hyperhomocysteinemia30.4ELN, F2
19ehlers-danlos syndrome30.4ELN, ELANE
20arteriosclerosis30.4ELN
21hepatocellular carcinoma30.2ELANE, IL6, MMP2, F2, MMP12, MMP9
22bladder carcinoma30.2MMP9, MMP12, MMP2, MMP13, XDH
23acute myocardial infarction30.2XDH, MMP9, F3
24diabetes mellitus30.2IL6, MMP3, MMP9
25acute pancreatitis30.2ELANE, IL6
26antiphospholipid syndrome30.2F3, F2
27wegener's granulomatosis30.2ELANE, ELN
28marfan syndrome30.2COL3A1, ELN
29alpha 1-antitrypsin deficiency30.2ELANE
30aortic aneurysm11.7
31ruptured aortic aneurysm11.5
32aortic disease11.0
33duodenitis10.8
34duodenal obstruction10.7
35dissecting aortic aneurysm10.6
36spinal cord ischemia10.6
37coronary aneurysm10.6
38superior mesenteric artery syndrome10.6
39compartment syndrome10.6
40peripheral vascular disease10.5
41ureteral obstruction10.4
42aortitis10.4
43cholecystitis10.4
44neuropathy10.4
45kidney disease10.4
46aortic aneurysm, familial abdominal 210.4
47aortic aneurysm, familial abdominal, 410.4
48carotid stenosis10.3
49discitis10.3
50renovascular hypertension10.3

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



Diseases related to abdominal aortic aneurysm

Clinical Features for Abdominal Aortic Aneurysm

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46OMIM
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Clinical features from OMIM:

611891,100070,614375,609782

Clinical synopsis from OMIM:

100070

Drugs & Therapeutics for Abdominal Aortic Aneurysm

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

Search CenterWatch for Abdominal Aortic Aneurysm

Drug clinical trials:

Search ClinicalTrials for Abdominal Aortic Aneurysm

Search NIH Clinical Center for Abdominal Aortic Aneurysm

Search CenterWatch for Abdominal Aortic Aneurysm

Genetic Tests for Abdominal Aortic Aneurysm

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Anatomical Context for Abdominal Aortic Aneurysm

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

32
Kidney, Heart, Skin, Colon, Smooth muscle, Spinal cord, Endothelial, Monocytes, Lung, T cells, Testes, Bone, Small intestine, Whole blood, Pituitary

Animal Models for Abdominal Aortic Aneurysm or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Abdominal Aortic Aneurysm:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538711.6HELLS, MMP2, ELANE, TNFSF12, XDH, IL6
2MP:000537611.5AAAS, ELANE, PLA2G10, F2, MMP12, MMP13
3MP:001076811.3F2, COL3A1, HELLS, XDH, IL6, F3
4MP:001077111.2F2, MMP9, MMP12, MMP13, IL6, XDH
5MP:000536911.2PLA2G10, COL3A1, XDH, IL6, F3, ELN
6MP:000539711.2HELLS, TNFSF12, IL6, F3, MMP9, F2
7MP:000538411.1MMP13, AAAS, PLA2G10, F2, MMP9, F3
8MP:000538511.0F3, MMP13, MMP12, F2, PLA2G10
9MP:000538811.0ELN, MMP9, IL6, MMP2, COL3A1
10MP:000537810.9COL3A1, HELLS, XDH, F3, MMP13, MMP2
11MP:000539010.9HELLS, HOXA4, IL6, MMP13, MMP3

Publications for Abdominal Aortic Aneurysm

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50PubMed
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Articles related to Abdominal Aortic Aneurysm:

(show top 50)    (show all 1484)
idTitleAuthorsYear
1
Inflammatory abdominal aortic aneurysm: a case report and review of literature. (24226790)
2014
2
Single-stage repair of a complex type B aortic dissection associated with a pressurized infrarenal abdominal aortic aneurysm. (23988550)
2013
3
Strain measurement of abdominal aortic aneurysm with real-time 3D ultrasound speckle tracking. (23403222)
2013
4
Expectations and experiences of open abdominal aortic aneurysm repair patients: a mixed methods study. (23845072)
2013
5
Surgical repair of ruptured abdominal aortic aneurysm with non-bleeding aortocaval fistula. (23825505)
2013
6
MicroRNAs in Abdominal Aortic Aneurysm. (23713862)
2013
7
Current prevalence of abdominal aortic aneurysm in 70-year-old women. (23192439)
2013
8
Acute thrombosis of an abdominal aortic aneurysm presenting as cauda equina syndrome. (23063443)
2013
9
The place of endovascular treatment in abdominal aortic aneurysm. (23505399)
2013
10
Three trocars laparoscopic abdominal aortic aneurysm repair. (22795521)
2012
11
Hyperhomocysteinemia exaggerates adventitial inflammation and angiotensin II-induced abdominal aortic aneurysm in mice. (22912384)
2012
12
Ruptured abdominal aortic aneurysm: endovascular or open approach in a Dutch general hospital. (21577191)
2011
13
Interaction of the inflammasome genes CARD8 and NLRP3 in abdominal aortic aneurysms. (21621776)
2011
14
In vivo study on the expression pattern of resistin in patients with abdominal aortic aneurysm. (20810407)
2011
15
Can statins suppress the development of abdominal aortic aneurysms? A review of the current evidence. (19625274)
2010
16
Delayed permanent paraplegia after endovascular repair of abdominal aortic aneurysm. (20206815)
2010
17
Prevalence of abdominal aortic aneurysm and large infrarenal aorta in patients with acute coronary syndrome and proven coronary stenosis: a prospective monocenter study. (20371161)
2010
18
Wegener's granulomatosis presenting as an abdominal aortic aneurysm: a case report. (20066062)
2009
19
Regarding "National outcomes for the treatment of ruptured abdominal aortic aneurysm: comparison of open versus endovascular repairs". (19398184)
2009
20
Optimization of the model of abdominal aortic aneurysm by co-incubation of calcium chloride and collagenase in rats. (19668886)
2009
21
Activated protein C-protein C inhibitor complex in patients with abdominal aortic aneurysms: is it associated with diameter and growth rate? (18184931)
2008
22
Incidence of colonic ischemia after repair of ruptured abdominal aortic aneurysm with endograft. (17382218)
2007
23
Ruptured abdominal aortic aneurysm: endovascular repair does not confer any long-term survival advantage over open repair. (17714633)
2007
24
Regression of abdominal aortic aneurysms by simultaneous inhibition of nuclear factor kappaB and ets in a rabbit model. (17885220)
2007
25
Pathophysiology of abdominal aortic aneurysms: insights from the elastase-induced model in mice with different genetic backgrounds. (17182923)
2006
26
Abdominal aortic aneurysm rupture is associated with increased medial neovascularization and overexpression of proangiogenic cytokines. (16809548)
2006
27
Methylenetetrahydrofolate reductase mutation in subjects with abdominal aortic aneurysm subdivided for age. (16614466)
2006
28
Ruptured abdominal aortic aneurysm: endovascular treatment. (15759206)
2005
29
Functional outcome after open repair of ruptured abdominal aortic aneurysm. (15886656)
2005
30
Genetic approach to the role of cysteine proteases in the expansion of abdominal aortic aneurysms. (14716800)
2004
31
Incidence of fatal or repaired abdominal aortic aneurysm in relation to inflammation-sensitive plasma proteins. (14684427)
2004
32
Cytokine gene polymorphisms and the inflammatory response to abdominal aortic aneurysm repair. (12945076)
2003
33
Multisaccular aneurysm developing in association with abdominal aortic coarctation: report of a surgical case. (14672531)
2003
34
Ruptured abdominal aortic aneurysm presenting as groin pain. (11942452)
2002
35
Monocyte chemotactic activity in human abdominal aortic aneurysms: role of elastin degradation peptides and the 67-kD cell surface elastin receptor. (11854722)
2002
36
Ruptured abdominal aortic aneurysm: a novel method of outcome prediction using neural network technology. (10727369)
2000
37
Randomized, multicentre, double-blind, placebo-controlled trial of the use of aprotinin in the repair of ruptured abdominal aortic aneurysm. On behalf of the Joint Vascular Research Group. (10848853)
2000
38
Ruptured abdominal aortic aneurysm in the Huntingdon district: a 10-year experience. (10325681)
1999
39
An activated state of blood coagulation and fibrinolysis in patients with abdominal aortic aneurysm. (9568655)
1998
40
Ruptured abdominal aortic aneurysm: role of initial delay on survival. (9894191)
1998
41
The effect of tumor necrosis factor binding protein and interleukin-1 receptor antagonist on the development of abdominal aortic aneurysms in a rat model. (9737463)
1998
42
Evolution of the infected abdominal aortic aneurysm: CT observation of early aortitis. (8875873)
1996
43
Abdominal aortic aneurysms and alpha 1-antitrypsin deficiency. (7964438)
1994
44
The Einstein sign: the clinical picture of acute cholecystitis caused by ruptured abdominal aortic aneurysm. (6371539)
1984
45
Acute renal failure after ruptured abdominal aortic aneurysm: an improved clinical prognosis. (456000)
1979
46
Necrosis of the colon and the rectum after resection of ruptured abdominal aortic aneurysm. (507739)
1979
47
Ruptured abdominal aortic aneurysm. (1145431)
1975
48
Ruptured abdominal aortic aneurysm with aorta-caval fistula. (5084545)
1972
49
The G-suit. Its use in emergency surgery for ruptured abdominal aortic aneurysm. (4634749)
1972
50
Salmonella infection in ruptured abdominal aortic aneurysm. (16097283)
1967

Genetic Variations for Abdominal Aortic Aneurysm

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Expression for genes affiliated with Abdominal Aortic Aneurysm

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

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

Pathways for genes affiliated with Abdominal Aortic Aneurysm

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53Reactome, 51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.1COL3A1, F3, MMP13, MMP3, MMP2, MMP12
2
Cell adhesion ECM remodeling
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11.0ELN, COL3A1, MMP13, MMP3, MMP2, MMP12
3
Hide members
11.0COL3A1, MMP13, MMP3, MMP2, MMP12, MMP9
4
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10.9IL6, MMP13, MMP3, MMP2, MMP12, MMP9
5
Hide members
10.9MMP12, MMP2, MMP3, MMP13, COL3A1
6
Hide members
10.8MMP13, MMP3, MMP2, MMP12, MMP9
7
Cell adhesion Cell-matrix glycoconjugates
Hide members
10.8MMP3, MMP9, ELANE, ELN
810.8ELANE, MMP9, MMP2, IL6
910.8IL6, MMP3, MMP9, ELANE
1010.8MMP9, MMP12, MMP2, IL6
1110.7F2, IL6, XDH
1210.7MMP9, MMP2, IL6
1310.7IL6, MMP2, MMP9
1410.7MMP13, MMP2, MMP9
15
Hide members
10.7MMP2, MMP3, MMP13
16
Hide members
10.6ELN, ELANE
17
Hide members
10.6ELANE, MMP9

Compounds for genes affiliated with Abdominal Aortic Aneurysm

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 49PharmGKB
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Compounds related to Abdominal Aortic Aneurysm according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
1retinoic acid44 2412.5IL6, F3, ELN, HELLS, MMP9, MMP3
2cysteine4411.5ELANE, MMP2, MMP3, MMP13, F3, XDH
3hyaluronic acid44 2412.5ELANE, ELN, IL6, MMP13, MMP2, MMP3
4n acetylcysteine4411.5ELN, F2, MMP9, MMP12, MMP2, IL6
5fibrinogen4411.5IL6, F3, MMP13, MMP12, MMP9, F2
6lactate4411.5ELANE, IL6, ELN, F2, MMP2, MMP3
7vegf4411.4MMP2, MMP3, MMP12, MMP9, MMP13, IL6
8alanine4411.4ELN, HELLS, MMP2, MMP3, F2, F3
9genistein44 28 59 2 11 2416.4MMP9, MMP2, IL6, MMP13, MMP3, ELN
10batimastat44 59 1113.4MMP3, MMP13, MMP2, MMP9, ELANE, MMP12
11doxycycline44 1112.4MMP9, MMP2, MMP3, MMP13, ELN, ELANE
12creatinine4411.4MMP9, F3, MMP3, MMP2, IL6, F2
13tgf beta14411.3MMP9, IL6, MMP13, MMP3, ELN, MMP2
14serine4411.3MMP3, MMP2, MMP12, MMP13, HELLS, MMP9
15ribonucleic acid4411.3MMP2, MMP3, MMP13, HELLS, COL3A1, MMP9
16gi 254023x5911.3MMP3, MMP13, MMP12, MMP9, MMP2
17uk 3833675911.3MMP3, MMP2, MMP12, MMP9, MMP13
18gm 60015911.3MMP9, MMP12, MMP2, MMP3, MMP13
19hydroxamate4411.3MMP9, MMP12, MMP2, MMP3, MMP13
20marimastat44 59 1113.3MMP9, MMP12, MMP2, MMP3, MMP13
21sb 20358044 5912.3MMP9, MMP2, MMP3, MMP13, IL6, F3
22pdtc4411.3F3, XDH, MMP2, IL6, MMP9
23sp 60012544 5912.2MMP13, F3, IL6, MMP9, MMP2
24aprotinin44 1112.2F3, MMP13, MMP2, ELANE
25ilomastat4411.2MMP3, MMP2, ELANE, MMP9
26gabexate mesilate4411.2XDH, IL6, MMP9, ELANE
27thermolysin4411.2MMP13, MMP3, ELANE, ELN
28(4-aminophenyl)mercuric acetate4411.2MMP13, ELANE, MMP3
29simvastatin44 49 59 28 11 2416.1F3, MMP3, MMP9, F2, IL6
308-isoprostane4411.1IL6, MMP9, MMP2, XDH
31alginate4411.1ELN, MMP13, ELANE
32silymarin4411.1MMP2, XDH, F2, MMP9
33pge24411.1PLA2G10, MMP9, MMP2
34protamine4411.1IL6, F3, F2, ELANE
35epinephrine44 11 2413.1F3, ELANE, F2
36curcumin4411.0IL6, MMP3, MMP2, MMP9, MMP13
37dermatan sulfate4411.0F3, ELANE, ELN, F2
38gelfoam4411.0ELN, MMP9, MMP2
393,4-dichloroisocoumarin44 1112.0F3, ELANE, MMP9
40egcg4411.0ELANE
41hydroxyproline44 11 2413.0MMP13, MMP2, ELN, MMP9
42latanoprost44 1111.9MMP3, MMP2, MMP9
43cilomilast4410.9MMP2, ELANE, MMP9
44cycloheximide4410.9ELN
45pentoxifylline44 1111.8ELANE, MMP2, IL6, F3
46ibuprofen44 28 49 11 2414.8F3, MMP2, IL6, MMP3
47ivig4410.7ELN
48estrogen4410.6ELN
49coumarins4410.6F3, F2, XDH
50tannins4410.4XDH, ELANE, ELN

GO Terms for genes affiliated with Abdominal Aortic Aneurysm

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557611.3ELN, COL3A1, XDH, IL6, MMP13, MMP3
2proteinaceous extracellular matrixGO:00557810.9MMP13, MMP3, MMP2, MMP12, ELN, MMP9
3extracellular spaceGO:00561510.9MMP2, MMP3, MMP13, F3, IL6, TNFSF12

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:03057411.1ELANE, COL3A1, MMP13, MMP3, MMP2, MMP12
2extracellular matrix organizationGO:03019811.1COL3A1, MMP13, MMP3, MMP2, MMP12, MMP9
3extracellular matrix disassemblyGO:02261711.1COL3A1, MMP13, MMP3, MMP2, MMP12, MMP9
4proteolysisGO:00650810.9MMP13, MMP3, MMP2, MMP12, MMP9, F2
5negative regulation of chemokine biosynthetic processGO:04507910.6ELANE, IL6
6cellular response to amino acid stimulusGO:07123010.4MMP2, MMP3, COL3A1

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00422210.8MMP9, MMP12, MMP2, MMP3, MMP13

Products for genes affiliated with Abdominal Aortic Aneurysm

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  • Antibodies
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Sources for Abdominal Aortic Aneurysm

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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