AOVD1
MCID: ART115
MIFTS: 50

Aortic Valve Disease 1 (AOVD1) malady

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

Aliases & Classifications for Aortic Valve Disease 1

Aliases & Descriptions for Aortic Valve Disease 1:

Name: Aortic Valve Disease 1 54 24 66 42 69
Aortic Valve Disease 12 66 29 13 52 14
Bicuspid Aortic Valve 24 66 29 52
Aovd1 24 66
Aortic Valve, Calcification of 24
Calcification of Aortic Valve 66
Aortic Valve Calcification 69
Aortic Stenosis, Calcific 24
Calcific Aortic Stenosis 66
Aortic Valve Disease 2 69
Aortic Valve Disorder 69
Bav 66

Characteristics:

HPO:

32
aortic valve disease 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 109730
Disease Ontology 12 DOID:62
ICD9CM 35 395 424.1
NCIt 47 C78650
SNOMED-CT 64 194988001 8722008
ICD10 33 I39.1
UMLS 69 C1260873

Summaries for Aortic Valve Disease 1

OMIM : 54 Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al.,... (109730) more...

MalaCards based summary : Aortic Valve Disease 1, also known as aortic valve disease, is related to lupus erythematosus and aortic valve disease 2, and has symptoms including bicuspid aortic valve and aortic valve stenosis. An important gene associated with Aortic Valve Disease 1 is NOTCH1 (Notch 1), and among its related pathways/superpathways are Angiogenesis (CST) and Elastic fibre formation. The drugs Desflurane and Isoflurane 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 1: 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.

Related Diseases for Aortic Valve Disease 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
id Related Disease Score Top Affiliating Genes
1 lupus erythematosus 29.6 ACE CRP TNNI3 VWF
2 aortic valve disease 2 12.4
3 familial bicuspid aortic valve 12.3
4 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 12.2
5 aortic valve insufficiency 11.3
6 left ventricular outflow tract obstruction 11.1
7 mucopolysaccharidosis is 10.9
8 linear focal dermal elastosis 10.4 ELN FBN1
9 acute sensory ataxic neuropathy 10.4 ELN FBN1
10 acute pure sensory neuropathy 10.4 ELN FBN1
11 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.3 ELN FBN1
12 anal margin squamous cell carcinoma 10.3 ELN VWF
13 familial progressive hyperpigmentation 10.3 ACE ELN
14 hypotrichosis simplex 10.3 ACE REN
15 aplasia cutis congenita recessive 10.3 ACE FBN1 NOTCH1
16 pericardium disease 10.3 FBN1 NKX2-6 NPPB
17 chronic inflammatory demyelinating polyneuropathy 10.3 NPPB REN
18 hyperinsulinemic hypoglycemia, familial, 3 10.3 ACE REN
19 houlston ironton temple syndrome 10.3 CRP ELN FBN1
20 secretory diarrhea myopathy and deafness 10.2 ACE CRP VWF
21 cerebral convexity meningioma 10.2 ACE FBN1 NPPB
22 listeriosis 10.2 ACE REN VWF
23 carbohydrate metabolic disorder 10.2 ACE REN
24 chromosome 16p11.2 deletion syndrome, 220kb 10.2 ELN GTF2IRD1 NKX2-6
25 joint disorders 10.2 ACE CRP NPPB
26 toxic myocarditis 10.2 ACE CRP NPPB
27 ischemic optic neuropathy 10.2 ACE CRP VWF
28 eastern equine encephalitis 10.2 ACE NPPB REN
29 petrositis 10.2 ACE NPPB REN
30 lymphadenitis 10.2 ACE NPPB REN
31 familial periodic paralysis 10.2 ACE CRP NPPB
32 chronic polyneuropathy 10.2 ELN FBN1 NOTCH1 REN
33 hypothyroidism, congenital nongoitrous, 5 10.2 ACE REN
34 schizotypal personality disorder 10.2 ACE CRP REN
35 intra-abdominal lymph node mast cell malignancy 10.2 ACE CRP SPP1
36 dysbaric osteonecrosis 10.2 BMP2 RUNX2 SPP1
37 secernentea infections 10.2 FBN1 POMC
38 urinary bladder posterior wall cancer 10.2 CRP NPPB REN
39 clivus meningioma 10.2 ACE ELN FBN1 SPP1
40 heterophyiasis 10.2 CRP NOTCH1
41 ichthyosis lamellar 3 10.2 NOTCH1 NPPB TNNI3
42 congenital chloride diarrhea 10.2 ACE CRP VWF
43 limb ischemia 10.2 ACE CRP REN
44 bile duct mucoepidermoid carcinoma 10.1 CRP SPP1 VWF
45 myelophthisic anemia 10.1 ACE CRP ELN SPP1
46 pervasive developmental disorder 10.1 ACE NPPB TNNI3
47 cervix small cell carcinoma 10.1 ACE CRP REN VWF
48 pyelonephritis 10.1 ACE CRP NPPB REN
49 diabetic encephalopathy 10.1 ACE CRP NPPB REN
50 testicular germ cell tumor non-seminomatous 10.1 FBN1 IL4I1 NKX2-6 NOTCH1

Graphical network of the top 20 diseases related to Aortic Valve Disease 1:



Diseases related to Aortic Valve Disease 1

Symptoms & Phenotypes for Aortic Valve Disease 1

Symptoms by clinical synopsis from OMIM:

109730

Clinical features from OMIM:

109730

Human phenotypes related to Aortic Valve Disease 1:

32
id Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 32 HP:0001647
2 aortic valve stenosis 32 HP:0001650

MGI Mouse Phenotypes related to Aortic Valve Disease 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ACE BMP2 CRP FBN1 GTF2IRD1 HCK
2 homeostasis/metabolism MP:0005376 10.1 ACE BMP2 CRP FBN1 GTF2IRD1 HCK
3 hematopoietic system MP:0005397 10.06 PDLIM1 POMC REN RUNX2 SPP1 VWF
4 immune system MP:0005387 9.9 REN RUNX2 SPP1 VWF ACE BMP2
5 mortality/aging MP:0010768 9.8 HCK NKX2-6 NOTCH1 POMC REN RUNX2
6 respiratory system MP:0005388 9.28 FBN1 GLS GTF2IRD1 HCK NKX2-6 NOTCH1

Drugs & Therapeutics for Aortic Valve Disease 1

Drugs for Aortic Valve Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 300)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desflurane Approved Phase 4 57041-67-5 42113
2
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Captopril Approved Phase 4 62571-86-2 44093
5
Trandolapril Approved Phase 4 87679-37-6 5484727
6
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
7
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
8
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
9
Warfarin Approved Phase 4,Phase 2,Phase 3,Phase 1 81-81-2 6691 54678486
10
Cefazolin Approved Phase 4 25953-19-9 656510 33255
11
Vancomycin Approved Phase 4 1404-90-6 441141 14969
12
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
13
Cabergoline Approved Phase 4 81409-90-7 54746
14
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
15
Dobutamine Approved Phase 4 34368-04-2 36811
16
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
17
Norepinephrine Approved Phase 4,Phase 3 51-41-2 439260
18
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
19
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
20
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
21
Salicylic acid Approved, Vet_approved Phase 4 69-72-7 338
22
Calcium acetate Approved Phase 4 62-54-4
23
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
24
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
25
Acetylcysteine Approved, Investigational Phase 4,Phase 1 616-91-1 12035
26
Morphine Approved, Investigational Phase 4 57-27-2 5288826
27
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
28
Ticagrelor Approved Phase 4,Phase 3,Early Phase 1 274693-27-5 9871419
29
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
30
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
31
Acenocoumarol Approved Phase 4 152-72-7 9052 54676537
32
Phenprocoumon Approved Phase 4 435-97-2 9908 54680692
33
Rivaroxaban Approved Phase 4,Phase 3 366789-02-8
34
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
35
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
36
Acetaminophen Approved Phase 4 103-90-2 1983
37
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
38
Bisoprolol Approved Phase 4 66722-44-9 2405
39
Fluvastatin Approved Phase 4 93957-54-1 1548972
40
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
41
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Early Phase 1 59-30-3 6037
42
Menadione Approved, Nutraceutical Phase 4,Phase 2,Phase 3 58-27-5 4055
43
Phytonadione Approved, Nutraceutical Phase 4,Phase 2,Phase 3 84-80-0 4812 5284607
44
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Early Phase 1 120202-66-6, 113665-84-2 60606
45 Anesthetics Phase 4,Phase 3,Phase 2
46 Anesthetics, General Phase 4
47 Anesthetics, Inhalation Phase 4
48 Anesthetics, Intravenous Phase 4
49 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
50 Hypnotics and Sedatives Phase 4

Interventional clinical trials:

(show top 50) (show all 299)
id Name Status NCT ID Phase
1 Desflurane-induced Myocardial Protection Unknown status NCT02019797 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 Intracoronary Administration of Levosimendan in Cardiac Surgery Patients Unknown status NCT01500785 Phase 4
4 Study of Administration Of Antithrombin in Patients With Low Plasmatic Levels of Antithrombin After Cardiac Surgery Unknown status NCT01201070 Phase 4
5 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4
6 Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients Completed NCT01619982 Phase 4
7 Aspirin Versus Aspirin + ClopidogRel Following Transcatheter Aortic Valve Implantation: the ARTE Trial Completed NCT01559298 Phase 4
8 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4
9 Glutamate and Diastolic Function in Patients Undergoing Aortic Valve Repair Completed NCT01144039 Phase 4
10 The Effects of Levosimendan During Mitral Valve Surgery Completed NCT01969071 Phase 4
11 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4
12 Effect of Beta Blockade on Left Ventricular Remodeling and Function in Moderate to Severe Asymptomatic Aortic Regurgitation Completed NCT01157572 Phase 4
13 Anticoagulant After Implantation of Biological Aortic Valve Comparing With Aspirin Completed NCT01452568 Phase 4
14 CARE-2 (Calcium Acetate [PhosLo®]/Sevelamer[Renagel®] Evaluation Study 2) for Heart Calcification in Dialysis Patients Completed NCT00211939 Phase 4
15 Pleiotropic Effects of Atorvastatin in High Cardiovascular Risk Patients Completed NCT01013103 Phase 4
16 Randomized Isoflurane and Sevoflurane Comparison in Cardiac Surgery Completed NCT01477151 Phase 4
17 Clinical Evaluation on Advanced Resynchronization Completed NCT00658203 Phase 4
18 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
19 Preventing contrAst Induced Nephropathy After TranscathEter Aortic Valve Replacement Recruiting NCT03121053 Phase 4
20 Antiplatelet Therapy for Patients Undergoing Transcatheter Aortic Valve Implantation Recruiting NCT02247128 Phase 4
21 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
22 TAVI Protocol - Paravertebral Block Study Recruiting NCT01404975 Phase 4
23 The Effect of the Forced Diuresis With Matched Hydration in Reducing Acute Kidney Injury During TAVI Recruiting NCT01866800 Phase 4
24 The Pacing vs No Pacing Study - PNP Study Recruiting NCT02498639 Phase 4
25 Aortic Stenosis and PhosphodiEsterase Type 5 iNhibition (ASPEN): A Pilot Study Recruiting NCT01275339 Phase 4
26 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography (RETORIC) Recruiting NCT02826200 Phase 4
27 Rivaroxaban Compared to Vitamin K Antagonist Upon Development of Cardiovascular Calcification Recruiting NCT02066662 Phase 4
28 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
29 Dexmedetomidine and IV Acetaminophen for the Prevention of Postoperative Delirium Following Cardiac Surgery Recruiting NCT02546765 Phase 4
30 Protamine Sulfate During Transcatheter Aortic Valve Implantation Not yet recruiting NCT02974660 Phase 4
31 Randomized Study to Evaluate the Efficacy of Fluvastatin on Inflammatory Markers in Patients With Aortic Stenosis. Suspended NCT00404287 Phase 4
32 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4
33 Aortic Stenosis and PhosphodiEsterase iNhibition With Aortic Valve Replacement (ASPEN-AVR): A Pilot Study Terminated NCT01272388 Phase 4
34 Effects of Levosimendan in Patients Eligible for Aortic Valve Replacement With Left Ventricular Hypertrophy Terminated NCT01188369 Phase 4
35 Effect of Bisoprolol on Progression of Aortic Stenosis Terminated NCT01579058 Phase 4
36 TRANscatheter or SurgIcal Aortic Valve ReplacemenT in All-Comers With Severe Aortic Valve Stenosis Withdrawn NCT02838199 Phase 4
37 The Potential of Candesartan to Retard the Progression of Aortic Stenosis Unknown status NCT00699452 Phase 3
38 Erythropoietin + Iron Therapy for Anemic Patients Undergoing Aortic Valve Replacement Unknown status NCT02390102 Phase 3
39 Effect of Angiotensin II Receptor Blockers (ARB) on Left Ventricular Reverse Remodelling After Aortic Valve Replacement in Severe Valvular Aortic Stenosis Unknown status NCT00294775 Phase 3
40 Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients Unknown status NCT00683124 Phase 3
41 SOLAR & ATRILAZE Atrial Fibrillation Trial Unknown status NCT00734058 Phase 3
42 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
43 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Unknown status NCT02431221 Phase 3
44 Comparison of ATI-5923, a Novel Vitamin K Antagonist, With Warfarin in Patients Requiring Chronic Anticoagulation Unknown status NCT00691470 Phase 2, Phase 3
45 Glutamate for Metabolic Intervention in Coronary Surgery Unknown status NCT00489827 Phase 3
46 Effects Of Losartan On Myocardial Structure In Diabetic Hypertensive Patients With Left Ventricular Unknown status NCT00659451 Phase 3
47 Beta Blockers and Angiotensin Receptor Blockers in Bicuspid Aortic Valve Disease Aortopathy (BAV Study) Completed NCT01202721 Phase 3
48 Vitamin K Supplement for Inhibition of the Progress in Aortic Valve Calcification Completed NCT00785109 Phase 3
49 Conservative Aortic Valve Surgery for Aortic Insufficiency and Aneurysms of the Aortic Root. CAVIAAR Completed NCT00478803 Phase 3
50 Effects of Rosuvastatin on Aortic Stenosis Progression Completed NCT00800800 Phase 3

Search NIH Clinical Center for Aortic Valve Disease 1

Cochrane evidence based reviews: aortic valve disease 1

Genetic Tests for Aortic Valve Disease 1

Genetic tests related to Aortic Valve Disease 1:

id Genetic test Affiliating Genes
1 Aortic Valve Disorder 29
2 Bicuspid Aortic Valve 29
3 Abnormality of the Aortic Valve 29
4 Aortic Valve Disease 1 24 NOTCH1

Anatomical Context for Aortic Valve Disease 1

MalaCards organs/tissues related to Aortic Valve Disease 1:

39
Heart

Publications for Aortic Valve Disease 1

Variations for Aortic Valve Disease 1

ClinVar genetic disease variations for Aortic Valve Disease 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH1 NM_017617.4(NOTCH1): c.3319C> T (p.Arg1107Ter) single nucleotide variant Pathogenic rs41309764 GRCh37 Chromosome 9, 139402690: 139402690
2 NOTCH1 NM_017617.4(NOTCH1): c.4512delC (p.Cys1505Valfs) deletion Pathogenic rs41309766 GRCh38 Chromosome 9, 136505384: 136505384
3 NOTCH1 NM_017617.4(NOTCH1): c.2380delG (p.Glu794Serfs) deletion Likely pathogenic rs863224901 GRCh37 Chromosome 9, 139407560: 139407560
4 NOTCH1 NM_017617.4(NOTCH1): c.3765C> A (p.Cys1255Ter) single nucleotide variant Pathogenic rs1057515423 GRCh37 Chromosome 9, 139401304: 139401304
5 NOTCH1 NM_017617.4(NOTCH1): c.2439C> G (p.Tyr813Ter) single nucleotide variant Pathogenic rs1057515422 GRCh37 Chromosome 9, 139407501: 139407501
6 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
7 NOTCH1 NM_017617.4(NOTCH1): c.6348C> G (p.Tyr2116Ter) single nucleotide variant Pathogenic rs1057518661 GRCh38 Chromosome 9, 136497391: 136497391

Expression for Aortic Valve Disease 1

Search GEO for disease gene expression data for Aortic Valve Disease 1.

Pathways for Aortic Valve Disease 1

Pathways related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.27 NOTCH1 REN VWF
2
Show member pathways
11 BMP2 ELN FBN1
3 10.91 BMP2 RUNX2 SPP1 TNNI3

GO Terms for Aortic Valve Disease 1

Cellular components related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 ACE BMP2 CRP FBN1 NPPB POMC
2 extracellular region GO:0005576 9.4 ACE BMP2 CRP ELN FBN1 IL4I1

Biological processes related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.76 BMP2 RUNX2 SPP1
2 kidney development GO:0001822 9.75 ACE FBN1 REN
3 extracellular matrix disassembly GO:0022617 9.65 ELN FBN1 SPP1
4 endocardial cushion morphogenesis GO:0003203 9.57 BMP2 NOTCH1
5 heart contraction GO:0060047 9.56 ACE TNNI3
6 extracellular matrix organization GO:0030198 9.56 ELN FBN1 SPP1 VWF
7 beta-amyloid metabolic process GO:0050435 9.55 ACE REN
8 regulation of vasodilation GO:0042312 9.54 ACE NPPB
9 cardiac epithelial to mesenchymal transition GO:0060317 9.52 BMP2 NOTCH1
10 angiotensin maturation GO:0002003 9.51 ACE REN
11 cardiac muscle tissue morphogenesis GO:0055008 9.49 BMP2 NOTCH1
12 atrioventricular valve morphogenesis GO:0003181 9.46 BMP2 NOTCH1
13 positive regulation of astrocyte differentiation GO:0048711 9.43 BMP2 NOTCH1
14 regulation of blood vessel diameter GO:0097746 9.4 ACE NPPB
15 pericardium development GO:0060039 9.37 BMP2 NKX2-6
16 heart development GO:0007507 9.35 BMP2 FBN1 NKX2-6 NOTCH1 TNNI3
17 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.32 BMP2 RUNX2
18 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.16 BMP2 RUNX2
19 regulation of blood pressure GO:0008217 8.92 ACE NPPB POMC REN

Molecular functions related to Aortic Valve Disease 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 FBN1 NPPB POMC
2 receptor binding GO:0005102 9.02 BMP2 HCK NPPB POMC REN

Sources for Aortic Valve Disease 1

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
Content
Loading form....