MCID: ART018
MIFTS: 42

Aortic Valve Insufficiency

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Aortic Valve Insufficiency

MalaCards integrated aliases for Aortic Valve Insufficiency:

Name: Aortic Valve Insufficiency 12 44 15 73
Aortic Regurgitation 12 29 55 6
Rheumatic Aortic Regurgitation 12 73
Rheumatic Aortic Valve Insufficiency 12
Rheumatic Aortic Valve Regurgitation 12
Rheumatic Aortic Insufficiency 12
Aortic Insufficiency 12
Aortic Incompetence 12
Corrigan's Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:57
ICD10 33 I06.1 I35.1
ICD9CM 35 395.1 396.3
MeSH 44 D001022

Summaries for Aortic Valve Insufficiency

Disease Ontology : 12 An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.

MalaCards based summary : Aortic Valve Insufficiency, also known as aortic regurgitation, is related to aortic aneurysm, familial thoracic 1 and aortic aneurysm. An important gene associated with Aortic Valve Insufficiency is NPPB (Natriuretic Peptide B). The drugs Metoprolol and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and bone.

Wikipedia : 76 Aortic insufficiency (AI), also known as aortic regurgitation (AR), is the leaking of the aortic valve... more...

Related Diseases for Aortic Valve Insufficiency

Diseases in the Aortic Valve Insufficiency family:

Aortic Valve Disease 1 Aortic Valve Disease 2
Congenital Aortic Valve Insufficiency

Diseases related to Aortic Valve Insufficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 1 32.2 ELN FBN1
2 aortic aneurysm 29.8 ELN FBN1 NOTCH1
3 aortic valve disease 2 27.7 ACE ELN FBN1 NKX2-6 NOTCH1 NPPB
4 congenital aortic valve insufficiency 12.3
5 laubry-pezzi syndrome 11.5
6 marfan syndrome 11.4
7 congenital heart defects, multiple types, 2 11.0
8 ehlers-danlos syndrome, cardiac valvular type 10.9
9 pulmonary valve insufficiency 10.7 NKX2-6 NPPB
10 ebstein anomaly 10.7 NKX2-6 NPPB
11 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.6 ELN FBN1
12 late-onset focal dermal elastosis 10.6 ELN FBN1
13 familial abdominal aortic aneurysm 10.6 ELN FBN1
14 chronic actinic dermatitis 10.6 ELN FBN1
15 tricuspid valve insufficiency 10.6 FBN1 NPPB
16 mid-dermal elastolysis 10.6 ELN FBN1
17 phacogenic glaucoma 10.5 ELN FBN1
18 patent ductus arteriosus 1 10.5 NKX2-6 NPPB
19 syndrome of inappropriate antidiuretic hormone 10.5 ACE NPPB
20 hepatoportal sclerosis 10.5 ACE ELN
21 sorsby fundus dystrophy 10.5 ELN FBN1
22 diastolic heart failure 10.5 ACE NPPB
23 supravalvular aortic stenosis 10.4 ELN FBN1
24 ischemic heart disease 10.4 ACE NPPB
25 idiopathic edema 10.4 ACE NPPB
26 aortic atherosclerosis 10.4 ACE PON1
27 chromosomal deletion syndrome 10.4 ELN NKX2-6
28 diaphragmatic eventration 10.4 FBN1 NKX2-6
29 renal hypertension 10.4 ACE NPPB
30 tricuspid valve disease 10.3 FBN1 NKX2-6 NPPB
31 systolic heart failure 10.3 ACE NPPB
32 aneurysm 10.3
33 arteries, anomalies of 10.2 ACE NPPB PON1
34 optic disk drusen 10.2 ELN NOTCH1
35 hypersensitivity reaction type iv disease 10.2 ACE MRAP
36 hypertensive heart disease 10.2 ACE NPPB
37 arteriosclerosis 10.2 ACE ELN PON1
38 mitral valve insufficiency 10.1 ACE FBN1 NPPB
39 hypoplastic left heart syndrome 10.0 NKX2-6 NOTCH1 NPPB
40 endocarditis 10.0
41 connective tissue disease 10.0 ACE ELN FBN1
42 heart conduction disease 10.0 ACE NPPB
43 stroke, ischemic 10.0 ACE FBN1 PON1
44 tricuspid valve stenosis 9.9 FBN1 NKX2-6 NOTCH1
45 rheumatoid arthritis 9.9
46 arthritis 9.9
47 ventricular septal defect 9.9
48 aortic disease 9.9 ELN FBN1 NOTCH1
49 bardet-biedl syndrome 2 9.9
50 bardet-biedl syndrome 10 9.9

Comorbidity relations with Aortic Valve Insufficiency via Phenotypic Disease Network (PDN):


Aortic Valve Disease 1 Familial Atrial Fibrillation
Heart Disease Ischemic Heart Disease
Rheumatic Heart Disease Tricuspid Valve Disease

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



Diseases related to Aortic Valve Insufficiency

Symptoms & Phenotypes for Aortic Valve Insufficiency

Drugs & Therapeutics for Aortic Valve Insufficiency

Drugs for Aortic Valve Insufficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Rivaroxaban Approved Phase 4 366789-02-8
4
Serine Approved, Nutraceutical Phase 4,Not Applicable 56-45-1 5951
5
protease inhibitors Phase 4,Not Applicable
6 Adrenergic Agents Phase 4,Phase 3
7 Adrenergic Antagonists Phase 4,Phase 3
8 Serine Proteinase Inhibitors Phase 4,Not Applicable
9 Adrenergic beta-Antagonists Phase 4,Phase 3
10 Neurotransmitter Agents Phase 4,Phase 3
11 HIV Protease Inhibitors Phase 4,Not Applicable
12 Anti-Arrhythmia Agents Phase 4,Phase 3
13 Antihypertensive Agents Phase 4,Phase 3
14 Anticoagulants Phase 4
15 Protective Agents Phase 4,Not Applicable
16 Antithrombin III Phase 4
17 Antithrombins Phase 4
18 Adrenergic beta-1 Receptor Antagonists Phase 4
19 Sympatholytics Phase 4
20 Peripheral Nervous System Agents Phase 4
21 Autonomic Agents Phase 4
22 Fluorides Phase 4
23 Analgesics Phase 4
24 Fibrinolytic Agents Phase 4
25 Fluorodeoxyglucose F18 Phase 4
26 Cyclooxygenase Inhibitors Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Platelet Aggregation Inhibitors Phase 4
29 Factor Xa Inhibitors Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Antipyretics Phase 4
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4
33 Radiopharmaceuticals Phase 4
34 Antirheumatic Agents Phase 4
35 Bone Density Conservation Agents Phase 4
36 Cariostatic Agents Phase 4
37 Calcium, Dietary Phase 4,Phase 3
38
Losartan Approved Phase 3 114798-26-4 3961
39
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
40
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
41
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 3,Not Applicable 439-14-5 3016
42 Adrenergic Agonists Phase 3
43 Mitogens Phase 3
44 Adrenergic beta-Agonists Phase 3
45 Angiotensin II Type 1 Receptor Blockers Phase 3
46 Angiotensin Receptor Antagonists Phase 3
47 Angiotensinogen Phase 3
48 Vasodilator Agents Phase 3
49 Atorvastatin Calcium Phase 3 134523-03-8
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 144)
# Name Status NCT ID Phase Drugs
1 The Pacing vs No Pacing Study - PNP Study Unknown status NCT02498639 Phase 4
2 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4 antithrombin III
3 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4 Metoprolol;Placebo
4 Rivaroxaban or Aspirin for Biological Aortic Prosthesis Recruiting NCT02974920 Phase 4 Rivaroxaban 10 MG;Aspirin
5 Assessment of Osteoblastic Activity With 18F-Fluoride in Aortic Bioprosthesis Structural Valve Dysfunction (SVD) Recruiting NCT03015818 Phase 4
6 TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis Withdrawn NCT02838199 Phase 4
7 Study of Aortic Root Reimplantation Procedure Unknown status NCT01787604 Phase 3
8 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
9 The Medtronic CoreValve™ Evolut R™ CE Mark Clinical Study Unknown status NCT01876420 Phase 3
10 Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients Unknown status NCT00683124 Phase 3 Losartan and nebivolol;Losartan;Nebivolol
11 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3 Losartan;Placebo
12 Conservative Aortic Valve Surgery for Aortic Insufficiency and Aneurysms of the Aortic Root. CAVIAAR Completed NCT00478803 Phase 3
13 Freedom SOLO Stentless Heart Valve Study Completed NCT01115907 Phase 3
14 Interest of Cardiac Computed Tomography to Optimize and Improve the Procedure of TAVI Completed NCT01672268 Phase 3
15 Assessment of the St Jude Medical Portico Resheathable Aortic Valve System-Alternative Access Recruiting NCT03056573 Phase 2, Phase 3
16 A Comparison of Transcatheter Heart Valves in High Risk Patients With Severe Aortic Stenosis: The CHOICE Trial Active, not recruiting NCT01645202 Phase 3
17 Evaluating the Effectiveness of Atorvastatin on the Progression of Aortic Dilatation and Valvular Degeneration in Patients With Bicuspid Aortic Valve Active, not recruiting NCT02679261 Phase 3 Atorvastatin;Placebo
18 The PARTNER II Trial: Placement of AoRTic TraNscathetER Valves Active, not recruiting NCT01314313 Phase 3
19 Safety and Efficacy of TP10, a Complement Inhibitor, in Adult Women Undergoing Cardiopulmonary Bypass Surgery Completed NCT00082121 Phase 2 TP10
20 TranScatheter Aortic Valve RepLacement System US Feasibility Trial Active, not recruiting NCT01932099 Phase 2
21 NHLBI DIR LAMPOON Study: Intentional Laceration of the Anterior Mitral Leaflet to Prevent Left Ventricular Outflow Tract Obstruction During Transcatheter Mitral Valve Implantation Enrolling by invitation NCT03015194 Phase 2
22 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
23 Extravalvular Procedure for Surgical Treatment of Ascending Aorta Aneurism Unknown status NCT01456975 Not Applicable
24 Investigation of Patients With BAV Requiring Valve and/or Aortic Repair (GISSI Outliers VAR) Unknown status NCT02283970
25 The Italian Society of Invasive Cardiology Registry on Percutaneous Aortic Valve Unknown status NCT02713932
26 Mechanism and Early Intervention Research on ALI During Emergence Surgery of Acute Stanford A Aortic Dissection Unknown status NCT01894334 Not Applicable Ulinastatin;Tranexamic acid;Edaravone
27 Calibrating Cardiac Output Measurement of Electrical Cardiometry With Transthoracic Echocardiography Unknown status NCT02702063 Not Applicable
28 Transapical Implantation of Ventor Embracer™ Valve in Patients With Severe Aortic Valve Disease Unknown status NCT00677638 Not Applicable
29 Transcatheter Aortic Valve Implantation Without Predilation Unknown status NCT01539746 Not Applicable
30 Velocity Vector Imaging in Patients With Moderate-to-Severe Aortic Regurgitation Completed NCT00624884
31 Diastolic Dysfunction in Aortic Regurgitation Completed NCT00976625 Not Applicable
32 HAART 200 Aortic Valve Annuloplasty Trial Completed NCT02071849 Not Applicable
33 The HAART 300 Annuloplasty Ring Trial Extended Safety and Performance Completed NCT01732835 Not Applicable
34 HAART Model 300 Annuloplasty Ring Completed NCT01400841 Not Applicable
35 Investigation of Heart Function in Patients With Heart Valve Defects Completed NCT00001314
36 CryoValve® SG Aortic Human Heart Valve Combination Study Completed NCT01236469
37 German TAVI-Register Completed NCT02815514
38 Clinical Investigation Of The Mitroflow Aortic Pericardial Heart Valve Completed NCT00630916 Not Applicable
39 An Observational, Prospective Evaluation of the Trifecta™ Valve Completed NCT00727181 Not Applicable
40 Aortic Valve Replacement With Trifecta(TM) Completed NCT00475709 Not Applicable
41 Aortic Valve Replacement With Trifecta(TM) Completed NCT00475267 Not Applicable
42 Cerebral Oxymetry at Elective Coronary and Valve Surgery. Completed NCT01940874
43 CoreValve® System Australia/New Zealand Clinical Study Completed NCT01015612 Not Applicable
44 Examination of Valve Insufficiency Before and After MitraClip or TAVI Procedure by 3D Echocardiography Compared to MRI Completed NCT01966146 Not Applicable
45 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
46 Aortic or Mitral Valve Replacement With the Biocor and Biocor Supra Completed NCT00636987 Not Applicable
47 Transfemoral Placement of Aortic Balloon Expandable Transcatheter Valves Trial (Europe) Completed NCT00820599 Not Applicable
48 Abnormal 3-D MRI Flow Patterns in Adolescents Patients With Bicuspid Aortic Valve Completed NCT00412386
49 REpositionable Percutaneous Replacement of Stenotic Aortic Valve Through Implantation of Lotus™ Valve SystEm Completed NCT01383720 Not Applicable
50 HeartMate PHP™ CE Mark Clinical Investigation Plan Completed NCT02156609 Not Applicable

Search NIH Clinical Center for Aortic Valve Insufficiency

Cochrane evidence based reviews: aortic valve insufficiency

Genetic Tests for Aortic Valve Insufficiency

Genetic tests related to Aortic Valve Insufficiency:

# Genetic test Affiliating Genes
1 Aortic Regurgitation 29

Anatomical Context for Aortic Valve Insufficiency

MalaCards organs/tissues related to Aortic Valve Insufficiency:

41
Heart, Brain, Bone

Publications for Aortic Valve Insufficiency

Articles related to Aortic Valve Insufficiency:

(show top 50) (show all 81)
# Title Authors Year
1
Transcatheter valve with a hollow balloon for aortic valve insufficiency. ( 29629555 )
2018
2
Aortic valve insufficiency in aortic root aneurysms: consider every valve for repair. ( 29682470 )
2018
3
Aortic Valve Cusp Coaptation Surface Area Using 3-Dimensional Transesophageal Echocardiography Correlates with Severity of Aortic Valve Insufficiency. ( 29128482 )
2018
4
Morphologic and Functional Markers of Aortopathy in Patients With Bicuspid Aortic Valve Insufficiency Versus Stenosis. ( 27526648 )
2017
5
Reliability of transcardiopulmonary thermodilution cardiac output measurement in experimental aortic valve insufficiency. ( 29049339 )
2017
6
Mitral regurgitation after previous aortic valve surgery for bicuspid aortic valve insufficiency. ( 27012929 )
2017
7
Giant apparently not dissecting aneurysm and severe aortic valve insufficiency in an elite athlete. ( 26746634 )
2016
8
Transfemoral aortic valve implantation in pure native aortic valve insufficiency using the repositionable and retrievable lotus valve. ( 26110426 )
2016
9
An octogenarian with severe, highly symptomatic aortic valve insufficiency and a complex set of cardiovascular diagnoses. ( 27324728 )
2016
10
Relation of Aortic Valve Morphologic Characteristics to Aortic Valve Insufficiency and Residual Stenosis in Children With Congenital Aortic Stenosis Undergoing Balloon Valvuloplasty. ( 26805657 )
2016
11
Proximal thoracic aorta dimensions after continuous-flow left ventricular assist device implantation: Longitudinal changes and relation to aortic valve insufficiency. ( 26632029 )
2016
12
Aortic valve reimplantation using Kuban Cuff modification in a patient with acute type A aortic dissection and aortic valve insufficiency. ( 27563556 )
2016
13
Prevalence of De Novo Aortic Valve Insufficiency in Patients After HeartWare VAD Implantation with an Intermittent Low-Speed Algorithm. ( 27195744 )
2016
14
A huge saccular aortic aneurysm compressing right coronary artery 7 years after aortic valve replacement due to bicuspid aortic valve insufficiency: A rare case report. ( 27749539 )
2016
15
A porcine model for aortic valve insufficiency: If pigs could fly, they would teach surgeons to treat AI. ( 26210262 )
2015
16
Mechanism of Torrential Aortic Valve Insufficiency in Endocarditis: Leaflet Destruction, Restriction, Prolapse, or Perforation? ( 26275515 )
2015
17
Impact of aortic annular geometry on aortic valve insufficiency: Insights from a preclinical, exA vivo, porcine model. ( 26215361 )
2015
18
Heart valve disease: The role of calcidiol deficiency, elevated parathyroid hormone levels and oxidative stress in mitral and aortic valve insufficiency. ( 24192717 )
2014
19
Long-term results of aortic valve resuspension in patients with aortic valve insufficiency and aortic root aneurysm. ( 24399632 )
2014
20
Is there any difference in aortic wall quality between patients with bicuspid aortic valve stenosis and those with bicuspid aortic valve insufficiency? ( 24510908 )
2014
21
Resolution of an acute aortic syndrome with aortic valve insufficiency post-PCI. ( 25413612 )
2014
22
Constrictive pericarditis associated with an ascending aortic aneurysm and aortic valve insufficiency. ( 26336420 )
2014
23
Surgical correction of aortic valve insufficiency after left ventricular assist device implantation. ( 23870154 )
2013
24
Decreased paraoxonase 1, arylesterase enzyme activity, and enhanced oxidative stress in patients with mitral and aortic valve insufficiency. ( 23865359 )
2013
25
A case of microscopic polyangiitis associated with aortic valve insufficiency. ( 21120499 )
2013
26
Aortic valve insufficiency in the teenager and young adult: the role of prosthetic valve replacement. ( 24327634 )
2013
27
Aortic cusp extension for surgical correction of rheumatic aortic valve insufficiency in children. ( 24327632 )
2013
28
Echocardiographic predictors of early postsurgical myocardial dysfunction in pediatric patients with aortic valve insufficiency. ( 23389100 )
2013
29
Transcatheter aortic valve replacement for isolated aortic valve insufficiency: Experience with the Engager valve. ( 24433953 )
2013
30
Increased risk of late aortic events after isolated aortic valve replacement in patients with bicuspid aortic valve insufficiency versus stenosis. ( 24002396 )
2013
31
Surgical treatment of coronary arteriovenous fistulas and aortic valve insufficiency. ( 23594082 )
2013
32
Management of aortic valve insufficiency in patients supported by long-term continuous flow left ventricular assist devices. ( 23098948 )
2012
33
Congenital quadricuspid aortic valve: a rare valvular pathology leading to aortic valve insufficiency. ( 22227250 )
2012
34
Aortic valve insufficiency in antinuclear antibody positive large vessel vasculitis. ( 23124408 )
2012
35
First successful management of aortic valve insufficiency associated with HeartMate II left ventricular assist device support by transfemoral CoreValve implantation: the Columbus's egg? ( 22230158 )
2012
36
Midterm follow-up dynamic echocardiography evaluation after aortic valve repair for aortic valve insufficiency. ( 22368109 )
2012
37
Aortic valve insufficiency: leaflet reconstruction techniques. ( 22424501 )
2012
38
TAVI for pure aortic valve insufficiency in a patient with a left ventricular assist device. ( 22450111 )
2012
39
Ventricular septal defect with aortic valve insufficiency in a New Zealand White rabbit. ( 21730092 )
2011
40
Aortic valve insufficiency with extensive cusp pathology: repair with a pericardial patch. ( 20015658 )
2010
41
Basal cusp enlargement for repair of aortic valve insufficiency. ( 19660397 )
2010
42
A method for the measurement of left ventricular overload for aortic valve insufficiency. ( 19524244 )
2009
43
Left atrial appendage thrombus in a patient in sinus rhythm with endocarditis and a severe aortic valve insufficiency. ( 18841267 )
2008
44
Acute aortic valve insufficiency and cardiogenic shock due to an isolated giant cell inflammation of the aortic valve leaflets: case report and review of the literature. ( 18592933 )
2008
45
A case of tuberculous endocarditis with acute aortic valve insufficiency and annular subvalvular left ventricular aneurysm. ( 17444178 )
2007
46
Aortic valve insufficiency in patients with chronic rheumatic diseases. ( 16217592 )
2006
47
Native aortic valve insufficiency in patients with left ventricular assist devices. ( 16427821 )
2006
48
Results of valve preservation and repair for bicuspid aortic valve insufficiency. ( 16359055 )
2005
49
Aortic valve replacement concomitant with multiple extra-anatomical bypasses for a patient with aortic valve insufficiency having Takayasu's arteritis. ( 15896629 )
2005
50
Outcome of aortic valve repair in children with congenital aortic valve insufficiency. ( 15052192 )
2004

Variations for Aortic Valve Insufficiency

ClinVar genetic disease variations for Aortic Valve Insufficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh38 Chromosome 15, 48644631: 48644631
2 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh37 Chromosome 15, 48936828: 48936828
3 46;XY;inv(6)(p22q13)dn inversion Pathogenic

Expression for Aortic Valve Insufficiency

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

Pathways for Aortic Valve Insufficiency

GO Terms for Aortic Valve Insufficiency

Biological processes related to Aortic Valve Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.13 FBN1 NKX2-6 NOTCH1
2 regulation of blood vessel diameter GO:0097746 8.62 ACE NPPB

Sources for Aortic Valve Insufficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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