AOVD2
MCID: ART101
MIFTS: 53

Aortic Valve Disease 2 (AOVD2) malady

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

Aliases & Classifications for Aortic Valve Disease 2

Aliases & Descriptions for Aortic Valve Disease 2:

Name: Aortic Valve Disease 2 54 24 66 29 13 69
Aortic Valve Stenosis 12 50 24 66 29 42 14 69
Aortic Stenosis 12 50 52 14
Congenital Aortic Valve Stenosis 12 56
Rheumatic Aortic Stenosis 12 69
Bicuspid Aortic Valve 24 66
Aovd2 24 66
Rheumatic Aortic Valve Stenosis 12
Valvular Aortic Stenosis 50
As 12

Characteristics:

HPO:

32
aortic valve disease 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614823
Disease Ontology 12 DOID:1712
ICD9CM 35 395.0 746.3
MeSH 42 D001024
NCIt 47 C50462
Orphanet 56 ORPHA3093
ICD10 via Orphanet 34 Q23.0
UMLS via Orphanet 70 C0152417

Summaries for Aortic Valve Disease 2

NIH Rare Diseases : 50 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 based summary : Aortic Valve Disease 2, also known as aortic valve stenosis, is related to supravalvar aortic stenosis and familial bicuspid aortic valve, and has symptoms including bicuspid aortic valve, coarctation of aorta and calcification of the aorta. An important gene associated with Aortic Valve Disease 2 is SMAD6 (SMAD Family Member 6), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Captopril and Trandolapril have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 Aortic valve disease 2: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.

Disease Ontology : 12 An aortic valve disease that has physical basis in incomplete opening of the aortic valve.

Description from OMIM: 614823

Related Diseases for Aortic Valve Disease 2

Diseases in the Aortic Valve Insufficiency family:

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

Diseases related to Aortic Valve Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)
id Related Disease Score Top Affiliating Genes
1 supravalvar aortic stenosis 12.5
2 familial bicuspid aortic valve 12.3
3 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.2
4 subvalvular aortic stenosis 12.1
5 aortic valves stenosis of the child 12.0
6 smoking as a quantitative trait locus 1 11.8
7 smoking as a quantitative trait locus 2 11.8
8 williams-beuren syndrome 11.8
9 angelman syndrome 11.5
10 osteochondrosis 11.3
11 antisynthetase syndrome 11.2
12 spondyloarthropathy 1 11.2
13 hepatocellular carcinoma 11.1
14 lip cancer 11.1
15 aortic valve disease 1 11.0
16 left ventricular outflow tract obstruction 11.0
17 acute gonococcal salpingitis 10.7
18 lung cancer susceptibility 2 10.7
19 mucopolysaccharidosis is 10.7
20 bronchitis 10.7
21 breast cancer 10.7
22 prostate cancer 10.7
23 lymphoma 10.7
24 melanoma 10.6
25 schizophrenia 10.6
26 asperger syndrome 10.6
27 alzheimer disease 10.6
28 eclampsia 10.6
29 essential tremor 10.6
30 foot drop 10.6
31 lung cancer 10.6
32 mercury poisoning 10.6
33 asthma 10.6
34 renal cell carcinoma 10.6
35 fatty liver disease 10.6
36 stiff-person syndrome 10.6
37 rickets 10.6
38 epilepsy 10.6
39 colorectal cancer 10.6
40 pick disease 10.6
41 arthritis 10.6
42 neuroblastoma 10.6
43 ovarian cancer 10.6
44 creutzfeldt-jakob disease 10.6
45 adenocarcinoma 10.6
46 nephrolithiasis 10.6
47 cerebritis 10.6
48 acute disseminated encephalomyelitis 10.6
49 diarrhea 10.6
50 adrenoleukodystrophy 10.6

Comorbidity relations with Aortic Valve Disease 2 via Phenotypic Disease Network (PDN):


Familial Atrial Fibrillation Heart Disease
Intermediate Coronary Syndrome Ischemic Heart Disease
Left Ventricular Outflow Tract Obstruction Rheumatic Heart Disease

Graphical network of the top 20 diseases related to Aortic Valve Disease 2:



Diseases related to Aortic Valve Disease 2

Symptoms & Phenotypes for Aortic Valve Disease 2

Symptoms by clinical synopsis from OMIM:

614823

Clinical features from OMIM:

614823

Human phenotypes related to Aortic Valve Disease 2:

32
id Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 32 HP:0001647
2 coarctation of aorta 32 HP:0001680
3 calcification of the aorta 32 HP:0004963

MGI Mouse Phenotypes related to Aortic Valve Disease 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 NKX2-6 NPPA REN SMAD6 SPP1 TBX5
2 homeostasis/metabolism MP:0005376 10 ACE AGT BMP2 HGD MYL4 NKX2-6
3 hematopoietic system MP:0005397 9.96 ACE BMP2 IBSP NPPA PDLIM1 REN
4 immune system MP:0005387 9.65 ACE AGT BMP2 HGD IBSP REN
5 muscle MP:0005369 9.23 TBX5 TNFSF11 AGT MYH7 NPPA REN

Drugs & Therapeutics for Aortic Valve Disease 2

Drugs for Aortic Valve Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 344)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Captopril Approved Phase 4 62571-86-2 44093
2
Trandolapril Approved Phase 4 87679-37-6 5484727
3
Desflurane Approved Phase 4 57041-67-5 42113
4
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
7
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
8
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
9
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
10
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
11
Warfarin Approved Phase 4,Phase 2,Phase 3,Phase 1 81-81-2 6691 54678486
12
Fluvastatin Approved Phase 4,Phase 2 93957-54-1 1548972
13
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
14
Remifentanil Approved Phase 4 132875-61-7 60815
15
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
16
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
17
Dobutamine Approved Phase 4 34368-04-2 36811
18
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
19
Norepinephrine Approved Phase 4,Phase 3 51-41-2 439260
20
Cefazolin Approved Phase 4 25953-19-9 656510 33255
21
Vancomycin Approved Phase 4 1404-90-6 441141 14969
22
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
23
Cabergoline Approved Phase 4 81409-90-7 54746
24
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
25
Salicylic acid Approved, Vet_approved Phase 4 69-72-7 338
26
Calcium acetate Approved Phase 4 62-54-4
27
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
28
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
29
Acetylcysteine Approved, Investigational Phase 4,Phase 1 616-91-1 12035
30
Morphine Approved, Investigational Phase 4 57-27-2 5288826
31
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
32
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
33
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
34
Acenocoumarol Approved Phase 4 152-72-7 9052 54676537
35
Rivaroxaban Approved Phase 4,Phase 3,Phase 2 366789-02-8
36
Ticagrelor Approved Phase 4,Phase 3,Early Phase 1 274693-27-5 9871419
37
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
38
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
39
Phenprocoumon Approved Phase 4 435-97-2 9908 54680692
40
Acetaminophen Approved Phase 4 103-90-2 1983
41
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
42
Bisoprolol Approved Phase 4 66722-44-9 2405
43
Menadione Approved, Nutraceutical Phase 4,Phase 2,Phase 3 58-27-5 4055
44
Phytonadione Approved, Nutraceutical Phase 4,Phase 2,Phase 3 84-80-0 4812 5284607
45
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Early Phase 1 120202-66-6, 113665-84-2 60606
46 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
47 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
48 Atorvastatin Calcium Phase 4,Phase 3 134523-03-8
49 Calcium, Dietary Phase 4,Phase 2,Phase 3
50 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 659)
id Name Status NCT ID Phase
1 The Effect of Lipitor on Aortic Stenosis Unknown status NCT00590135 Phase 4
2 Acute Haemodynamic Effects of Treatment With Angiotensin Converting Enzyme (ACE)-Inhibitors in Patients With Symptomatic Aortic Stenosis Unknown status NCT00252317 Phase 4
3 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4
4 Endothelial Progenitors in Aortic Stenosis: Association With Aortic Stenosis Progression and Severity Unknown status NCT02060071 Phase 4
5 Desflurane-induced Myocardial Protection Unknown status NCT02019797 Phase 4
6 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4
7 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4
8 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Unknown status NCT01536717 Phase 4
9 Acute Hemodynamic Effects of Sildenafil in Patients With Severe Aortic Stenosis Completed NCT01060020 Phase 4
10 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4
11 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4
12 Medtronic CoreValve REDO Study Completed NCT01051310 Phase 4
13 REST Study: Left Ventricular Regression European Study Completed NCT00256165 Phase 4
14 EDWARDS INTUITY Valve System CADENCE-MIS Study Completed NCT02672553 Phase 4
15 Cerebral Embolic Load in Patients Undergoing Surgical Aortic Valve Replacement: A Comparison of the Conventional With the Minimized Extracorporeal Circulation Technique Using Transcranial Doppler Ultrasound Completed NCT02308566 Phase 4
16 Glutamate and Diastolic Function in Patients Undergoing Aortic Valve Repair Completed NCT01144039 Phase 4
17 Rosuvastatin Affecting Aortic Valve Endothelium Completed NCT00114491 Phase 4
18 Remifentanil/Sufentanil for CABG+/-AVR Evaluated by Recovery, Cognitive Function, Haemodynamics and Biochemical Markers. Completed NCT02053818 Phase 4
19 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4
20 The Effects of Levosimendan During Mitral Valve Surgery Completed NCT01969071 Phase 4
21 Beating Versus Arrested Heart for Mitral Valve Replacement Completed NCT01641614 Phase 4
22 Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients Completed NCT01619982 Phase 4
23 Aspirin Versus Aspirin + ClopidogRel Following Transcatheter Aortic Valve Implantation: the ARTE Trial Completed NCT01559298 Phase 4
24 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4
25 Anticoagulant After Implantation of Biological Aortic Valve Comparing With Aspirin Completed NCT01452568 Phase 4
26 CARE-2 (Calcium Acetate [PhosLo®]/Sevelamer[Renagel®] Evaluation Study 2) for Heart Calcification in Dialysis Patients Completed NCT00211939 Phase 4
27 Randomized Isoflurane and Sevoflurane Comparison in Cardiac Surgery Completed NCT01477151 Phase 4
28 Pleiotropic Effects of Atorvastatin in High Cardiovascular Risk Patients Completed NCT01013103 Phase 4
29 Clinical Evaluation on Advanced Resynchronization Completed NCT00658203 Phase 4
30 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Recruiting NCT01275339 Phase 4
31 The Pacing vs No Pacing Study - PNP Study Recruiting NCT02498639 Phase 4
32 SecOnd-generation seLf-expandable Versus Balloon-expandable Valves and gEneral Versus Local Anesthesia in TAVI Recruiting NCT02737150 Phase 4
33 TAVI Protocol - Paravertebral Block Study Recruiting NCT01404975 Phase 4
34 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
35 Dual Antiplatelet Therapy Versus Oral Anticoagulation for a Short Time to Prevent Cerebral Embolism After TAVI Recruiting NCT01642134 Phase 4
36 The Effect of the Forced Diuresis With Matched Hydration in Reducing Acute Kidney Injury During TAVI Recruiting NCT01866800 Phase 4
37 Rivaroxaban or Aspirin for Biological Aortic Prosthesis Recruiting NCT02974920 Phase 4
38 Assessment of Osteoblastic Activity With 18F-Fluoride in Aortic Bioprosthesis Structural Valve Dysfunction (SVD) Recruiting NCT03015818 Phase 4
39 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB)After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Recruiting NCT02482844 Phase 4
40 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Recruiting NCT02247128 Phase 4
41 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
42 Effect on Vascular Calcification of Replacing Warfarin by Rivaroxaban With or Without VitK2 in Hemodialysis Patients Recruiting NCT02610933 Phase 4
43 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography (RETORIC) Recruiting NCT02826200 Phase 4
44 Rivaroxaban Compared to Vitamin K Antagonist Upon Development of Cardiovascular Calcification Recruiting NCT02066662 Phase 4
45 Dexmedetomidine and IV Acetaminophen for the Prevention of Postoperative Delirium Following Cardiac Surgery Recruiting NCT02546765 Phase 4
46 Early Surgery Versus Conventional Treatment in Very Severe Aortic Stenosis Active, not recruiting NCT01161732 Phase 4
47 EDWARDS INTUITY Valve System CADENCE Study Active, not recruiting NCT02688153 Phase 4
48 Platelet Reactivity After TAVI: A Multicenter Pilot Study Active, not recruiting NCT02224066 Phase 4
49 The PARTNER TRIAL - Post Approval Study Part II Active, not recruiting NCT02184442 Phase 4
50 Carpentier-Edwards PERIMOUNT Magna Ease Pericardial Bioprosthesis, Model 3300TFX Active, not recruiting NCT01171625 Phase 4

Search NIH Clinical Center for Aortic Valve Disease 2

Cochrane evidence based reviews: aortic valve stenosis

Genetic Tests for Aortic Valve Disease 2

Genetic tests related to Aortic Valve Disease 2:

id Genetic test Affiliating Genes
1 Aortic Valve Disease 2 29 24 SMAD6
2 Aortic Valve Stenosis 29

Anatomical Context for Aortic Valve Disease 2

MalaCards organs/tissues related to Aortic Valve Disease 2:

39
Heart

Publications for Aortic Valve Disease 2

Variations for Aortic Valve Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Aortic Valve Disease 2:

66
id Symbol AA change Variation ID SNP ID
1 SMAD6 p.Pro415Leu VAR_068075 rs387907284
2 SMAD6 p.Cys484Phe VAR_068076 rs387907283

ClinVar genetic disease variations for Aortic Valve Disease 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX5 NM_000192.3(TBX5): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894378 GRCh37 Chromosome 12, 114823326: 114823326
2 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 GRCh37 Chromosome 12, 114823327: 114823327
3 SMAD6 NM_005585.4(SMAD6): c.1451G> T (p.Cys484Phe) single nucleotide variant Pathogenic rs387907283 GRCh37 Chromosome 15, 67073833: 67073833
4 SMAD6 NM_005585.4(SMAD6): c.1244C> T (p.Pro415Leu) single nucleotide variant Pathogenic rs387907284 GRCh37 Chromosome 15, 67073626: 67073626
5 TBX5 NM_000192.3(TBX5): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic rs863223788 GRCh38 Chromosome 12, 114366312: 114366312
6 TBX5 NM_000192.3(TBX5): c.958delA (p.Ile320Phefs) deletion Pathogenic rs878853750 GRCh38 Chromosome 12, 114366189: 114366189
7 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
8 TBX5 NM_000192.3(TBX5): c.456delC (p.Val153Serfs) deletion Pathogenic rs1057520136 GRCh37 Chromosome 12, 114836432: 114836432
9 TBX5 NM_000192.3(TBX5): c.278dupG (p.Leu94Profs) duplication Pathogenic GRCh38 Chromosome 12, 114399597: 114399597
10 TBX5 NM_000192.3(TBX5): c.443G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1060503154 GRCh38 Chromosome 12, 114398640: 114398640

Expression for Aortic Valve Disease 2

Search GEO for disease gene expression data for Aortic Valve Disease 2.

Pathways for Aortic Valve Disease 2

GO Terms for Aortic Valve Disease 2

Cellular components related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 ACE AGT BMP2 IBSP NPPA NPPB
2 extracellular region GO:0005576 9.4 ACE AGT BMP2 ELN IBSP NPPA

Biological processes related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.77 BMP2 IBSP SPP1
2 kidney development GO:0001822 9.76 ACE AGT REN
3 extracellular matrix organization GO:0030198 9.72 ELN IBSP SPP1 TNFRSF11B VWF
4 cell-substrate adhesion GO:0031589 9.6 SMAD6 VWF
5 cardiac muscle hypertrophy in response to stress GO:0014898 9.58 MYH7 NPPA
6 beta-amyloid metabolic process GO:0050435 9.57 ACE REN
7 regulation of vasodilation GO:0042312 9.56 ACE NPPB
8 positive regulation of renal sodium excretion GO:0035815 9.55 AGT NPPB
9 positive regulation of bone resorption GO:0045780 9.54 SPP1 TNFSF11
10 atrioventricular valve morphogenesis GO:0003181 9.52 BMP2 TBX5
11 receptor guanylyl cyclase signaling pathway GO:0007168 9.51 NPPA NPPB
12 regulation of blood vessel diameter GO:0097746 9.49 ACE NPPB
13 cell growth involved in cardiac muscle cell development GO:0061049 9.48 AGT NPPA
14 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.46 ACE AGT
15 renin-angiotensin regulation of aldosterone production GO:0002018 9.43 AGT REN
16 regulation of blood vessel size GO:0050880 9.43 AGT NPPA NPPB
17 regulation of blood volume by renin-angiotensin GO:0002016 9.4 AGT REN
18 regulation of renal output by angiotensin GO:0002019 9.37 ACE AGT
19 angiotensin maturation GO:0002003 9.33 ACE AGT REN
20 pericardium development GO:0060039 9.13 BMP2 NKX2-6 TBX5
21 regulation of blood pressure GO:0008217 9.02 ACE AGT NPPA NPPB REN

Molecular functions related to Aortic Valve Disease 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 AGT NPPA NPPB
2 cytokine activity GO:0005125 8.92 BMP2 SPP1 TNFRSF11B TNFSF11

Sources for Aortic Valve Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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