VWD1
MCID: VNW005
MIFTS: 48

Von Willebrand Disease, Type 1 (VWD1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Von Willebrand Disease, Type 1

MalaCards integrated aliases for Von Willebrand Disease, Type 1:

Name: Von Willebrand Disease, Type 1 58 13 45 41 74
Von Willebrand Disease Type 1 12 60 30 6
Vwd1 58 12 76
Von Willebrand Disease Type I 12 76
Von Willebrand's Disease 1 12 15
Von Willebrand Disease, Type 1, Susceptibility to 6
Von Willebrand Factor Deficiency Type 1 76
Von Willebrand Disease, Type I 58
Von Willebrand Disease 1 76
Vwd, Type 1 58
Vwd Type 1 12

Characteristics:

Orphanet epidemiological data:

60
von willebrand disease type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
variably expressivity
most common inherited bleeding disorder


HPO:

33
von willebrand disease, type 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060573
OMIM 58 193400
MeSH 45 D056725
NCIt 51 C131685
MESH via Orphanet 46 D056725
ICD10 via Orphanet 35 D68.0
UMLS via Orphanet 75 C1264039
Orphanet 60 ORPHA166078
MedGen 43 C1264039
UMLS 74 C1264039

Summaries for Von Willebrand Disease, Type 1

OMIM : 58 Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. The disorder results from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8; 300841). F8 is mutated in hemophilia A (summary by Goodeve, 2010). For a review of the various forms of von Willebrand disease, see Leebeek and Eikenboom (2016). (193400)

MalaCards based summary : Von Willebrand Disease, Type 1, also known as von willebrand disease type 1, is related to von willebrand disease, type 2 and von willebrand's disease. An important gene associated with Von Willebrand Disease, Type 1 is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Tranexamic Acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include whole blood, and related phenotypes are gastrointestinal angiodysplasia and mitral valve prolapse

Disease Ontology : 12 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material basis in heterozygous mutation in the VWF gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 76 von Willebrand disease 1: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.

Related Diseases for Von Willebrand Disease, Type 1

Diseases in the Von Willebrand's Disease family:

Pseudo-Von Willebrand Disease Von Willebrand Disease, Type 1
Von Willebrand Disease, Type 3 Von Willebrand Disease, Type 2
Acquired Von Willebrand Syndrome

Diseases related to Von Willebrand Disease, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 31.1 F3 F8 GP6 VWF
2 von willebrand's disease 30.2 F2 F3 F8 VWF
3 hemophilia 29.2 F2 F3 F8 VWF
4 von willebrand disease, type 3 29.1 F3 F8 GP6 VWF
5 fainting 10.2 F8 VWF
6 cerebral arteritis 10.2 F8 VWF
7 active peptic ulcer disease 10.1 F2 VWF
8 acquired von willebrand syndrome 10.1 F8 VWF
9 hemarthrosis 10.1 F8 VWF
10 spotted fever 10.1 F2 VWF
11 cardiac tamponade 10.1 F2 F8
12 livedoid vasculitis 10.1 F2 F8
13 thrombophlebitis 10.1 F2 F8
14 post-thrombotic syndrome 10.1 F2 F8
15 compartment syndrome 10.1 F2 F8
16 lymphangiosarcoma 10.1 F8 VWF
17 venous insufficiency 10.1 F2 VWF
18 retinal artery occlusion 10.1 F2 F8
19 intermittent claudication 10.1 F2 VWF
20 primary thrombocytopenia 10.1 GP6 VWF
21 factor xii deficiency 10.0
22 ehlers-danlos syndrome 10.0
23 classic ehlers-danlos syndrome 10.0
24 varicose veins 10.0 F2 VWF
25 thrombasthenia 10.0 F2 F3
26 gray platelet syndrome 10.0 GP6 VWF
27 portal hypertension 9.9 F2 VWF
28 cerebral falx meningioma 9.9 F2 F3
29 acquired hemophilia 9.9 F3 F8
30 acquired hemophilia a 9.9 F3 F8
31 leech infestation 9.9 F2 F3
32 prothrombin deficiency 9.9 F2 F3
33 intestinal impaction 9.9 F2 F3
34 cerebral sinovenous thrombosis 9.9 F2 F3
35 giant hemangioma 9.9 F2 F3
36 grange syndrome 9.9 F3 VWF
37 sagittal sinus thrombosis 9.9 F2 F3
38 blue toe syndrome 9.9 F2 F3
39 femoral neuropathy 9.9 F2 F3
40 hantavirus pulmonary syndrome 9.9 F2 F3
41 anterior cranial fossa meningioma 9.9 F2 F3
42 marantic endocarditis 9.9 F2 F3
43 vascular hemostatic disease 9.9 F2 F3
44 intermediate coronary syndrome 9.9 F3 VWF
45 splenic disease 9.9 F2 F3
46 purpura fulminans 9.9 F2 F3
47 hepatic infarction 9.9 F2 F3
48 factor xiii deficiency 9.9 F3 F8
49 peripheral vertigo 9.9 F2 F3
50 blood protein disease 9.9 F2 F3

Graphical network of the top 20 diseases related to Von Willebrand Disease, Type 1:



Diseases related to Von Willebrand Disease, Type 1

Symptoms & Phenotypes for Von Willebrand Disease, Type 1

Human phenotypes related to Von Willebrand Disease, Type 1:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 gastrointestinal angiodysplasia 33 HP:0000471
2 mitral valve prolapse 33 HP:0001634
3 gastrointestinal hemorrhage 33 HP:0002239
4 epistaxis 33 HP:0000421
5 bruising susceptibility 33 HP:0000978
6 prolonged bleeding time 33 HP:0003010
7 menorrhagia 33 HP:0000132
8 aortic valve stenosis 33 HP:0001650
9 abnormality of the genitourinary system 33 HP:0000119
10 joint hemorrhage 33 HP:0005261
11 reduced factor viii activity 33 HP:0003125
12 impaired platelet aggregation 33 HP:0003540
13 prolonged whole-blood clotting time 33 HP:0005542

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
epistaxis

Hematology:
menorrhagia
prolonged bleeding time due to quantitative decrease of vwf protein
defect in platelet aggregation
mucocutaneous bleeding

Laboratory Abnormalities:
decreased levels of plasma vwf antigen
decreased levels of plasma factor viii

Genitourinary Internal Genitalia Female:
menorrhagia

Skin Nails Hair Skin:
easy bruisability

Clinical features from OMIM:

193400

MGI Mouse Phenotypes related to Von Willebrand Disease, Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 F2 F3 F8 GP6 VWF
2 homeostasis/metabolism MP:0005376 9.55 F2 F3 F8 GP6 VWF
3 immune system MP:0005387 9.35 F2 F3 F8 GP6 VWF
4 mortality/aging MP:0010768 9.02 F2 F3 F8 GP6 VWF

Drugs & Therapeutics for Von Willebrand Disease, Type 1

Drugs for Von Willebrand Disease, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2 Coagulants Phase 3,Phase 2
3 Hemostatics Phase 3,Phase 2
4 Antifibrinolytic Agents Phase 3
5
Oprelvekin Approved, Investigational Phase 2 145941-26-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
2 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2 Oprelvekin, Interleukin 11, IL-11
3 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2 recombinant interleukin-11;recombinant interleukin-11;recombinant interleukin-11
4 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2 Neumega (Oprelvekin, Interleukin 11, IL-11)
5 Evaluation of Bleeding Score in Egyptian Patients With vWD Type I and Correlate it With Laboratory Parameters Not yet recruiting NCT03915873

Search NIH Clinical Center for Von Willebrand Disease, Type 1

Cochrane evidence based reviews: von willebrand disease, type 1

Genetic Tests for Von Willebrand Disease, Type 1

Genetic tests related to Von Willebrand Disease, Type 1:

# Genetic test Affiliating Genes
1 Von Willebrand Disease Type 1 30 VWF

Anatomical Context for Von Willebrand Disease, Type 1

MalaCards organs/tissues related to Von Willebrand Disease, Type 1:

42
Whole Blood

Publications for Von Willebrand Disease, Type 1

Articles related to Von Willebrand Disease, Type 1:

(show all 41)
# Title Authors Year
1
von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina. ( 29271313 )
2018
2
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
3
von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients. ( 27785872 )
2016
4
Droplet-Shaped Deep Intraretinal Hemorrhage as Initial Presentation of Von Willebrand Disease Type 1. ( 27842199 )
2016
5
The genetic basis of von Willebrand disease. ( 20409624 )
2010
6
Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. ( 19506353 )
2009
7
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. ( 19506356 )
2009
8
Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio. ( 19506359 )
2009
9
Managing patients with von Willebrand disease type 1, 2 and 3 with desmopressin and von Willebrand factor-factor VIII concentrate in surgical settings. ( 19506363 )
2009
10
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. ( 19372260 )
2009
11
Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. ( 19687512 )
2009
12
PFA-100 monitoring of von Willebrand factor (VWF) responses to desmopressin (DDAVP) and factor VIII/VWF concentrate substitution in von Willebrand disease type 1 and 2. ( 18766263 )
2008
13
Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3. ( 17164493 )
2007
14
Genetics of von Willebrand disease type 1. ( 17003254 )
2006
15
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. ( 16889557 )
2006
16
Inherited and de novo von Willebrand disease 'Vicenza' in UK families with the R1205H mutation: diagnostic pitfalls and new insights. ( 16925796 )
2006
17
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. ( 17080221 )
2006
18
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. ( 15755288 )
2005
19
Management quandary. Menorrhagia in a teenager: Von Willebrand disease type 1. ( 15010043 )
2004
20
Slippery criteria for von Willebrand disease type 1. ( 15456481 )
2004
21
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. ( 15461624 )
2004
22
An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. ( 14525793 )
2004
23
Von Willebrand disease type 1: a diagnosis in search of a disease. ( 12411289 )
2003
24
Platelet membrane glycoprotein polymorphisms do not influence the clinical expressivity of von Willebrand disease type 1. ( 14652648 )
2003
25
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. ( 12649144 )
2003
26
Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. ( 11756169 )
2002
27
The elusive pathogenesis of von Willebrand disease Vicenza. ( 12043692 )
2002
28
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. ( 11698279 )
2001
29
Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. ( 10669167 )
2000
30
Combination of von Willebrand disease type 1 and partial factor XII deficiency in children: clinical evidence for a diminished bleeding tendency. ( 10591425 )
1999
31
Preoperative screening for von Willebrand disease type 1: low yield and limited ability to predict bleeding. ( 10595788 )
1999
32
New families with von Willebrand disease type 2M (Vicenza). ( 9253800 )
1997
33
Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. ( 8903002 )
1996
34
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. ( 8839833 )
1996
35
The genetic defect of type I von Willebrand disease "Vicenza" is linked to the von Willebrand factor gene. ( 8456430 )
1993
36
A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. ( 1581215 )
1992
37
Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III. ( 1301136 )
1992
38
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. ( 1415226 )
1992
39
A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients. ( 1302613 )
1992
40
Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. ( 1832934 )
1991
41
von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. ( 3257148 )
1988

Variations for Von Willebrand Disease, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Type 1:

76
# Symbol AA change Variation ID SNP ID
1 VWF p.Arg273Trp VAR_010242 rs61753997
2 VWF p.Cys1149Arg VAR_064925 rs61748511

ClinVar genetic disease variations for Von Willebrand Disease, Type 1:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh37 Chromosome 12, 6143978: 6143978
2 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh38 Chromosome 12, 6034812: 6034812
3 VWF NM_000552.4(VWF): c.4975C> T (p.Arg1659Ter) single nucleotide variant Pathogenic rs61750595 GRCh37 Chromosome 12, 6127609: 6127609
4 VWF NM_000552.4(VWF): c.4975C> T (p.Arg1659Ter) single nucleotide variant Pathogenic rs61750595 GRCh38 Chromosome 12, 6018443: 6018443
5 VWF NM_000552.4(VWF): c.5557C> T (p.Arg1853Ter) single nucleotide variant Pathogenic rs61750612 GRCh37 Chromosome 12, 6122710: 6122710
6 VWF NM_000552.4(VWF): c.5557C> T (p.Arg1853Ter) single nucleotide variant Pathogenic rs61750612 GRCh38 Chromosome 12, 6013544: 6013544
7 VWF NM_000552.4(VWF): c.3614G> A (p.Arg1205His) single nucleotide variant Pathogenic rs121964895 GRCh37 Chromosome 12, 6131126: 6131126
8 VWF NM_000552.4(VWF): c.3614G> A (p.Arg1205His) single nucleotide variant Pathogenic rs121964895 GRCh38 Chromosome 12, 6021960: 6021960
9 VWF NM_000552.4(VWF): c.3445T> C (p.Cys1149Arg) single nucleotide variant Pathogenic rs61748511 GRCh37 Chromosome 12, 6131999: 6131999
10 VWF NM_000552.4(VWF): c.3445T> C (p.Cys1149Arg) single nucleotide variant Pathogenic rs61748511 GRCh38 Chromosome 12, 6022833: 6022833
11 VWF NM_000552.4(VWF): c.4751A> G (p.Tyr1584Cys) single nucleotide variant risk factor rs1800386 GRCh37 Chromosome 12, 6127833: 6127833
12 VWF NM_000552.4(VWF): c.4751A> G (p.Tyr1584Cys) single nucleotide variant risk factor rs1800386 GRCh38 Chromosome 12, 6018667: 6018667
13 VWF VWF, 8.6-KB DEL, EX4-5 deletion Pathogenic
14 VWF NM_000552.4(VWF): c.2279G> A (p.Arg760His) single nucleotide variant Pathogenic rs61748467 GRCh37 Chromosome 12, 6155891: 6155891
15 VWF NM_000552.4(VWF): c.2279G> A (p.Arg760His) single nucleotide variant Pathogenic rs61748467 GRCh38 Chromosome 12, 6046725: 6046725
16 VWF NM_000552.4(VWF): c.1922C> T (p.Ala641Val) single nucleotide variant Uncertain significance rs61754019 GRCh37 Chromosome 12, 6166046: 6166046
17 VWF NM_000552.4(VWF): c.1922C> T (p.Ala641Val) single nucleotide variant Uncertain significance rs61754019 GRCh38 Chromosome 12, 6056880: 6056880
18 VWF NM_000552.4(VWF): c.6859C> T (p.Arg2287Trp) single nucleotide variant Uncertain significance rs61750625 GRCh37 Chromosome 12, 6094771: 6094771
19 VWF NM_000552.4(VWF): c.6859C> T (p.Arg2287Trp) single nucleotide variant Uncertain significance rs61750625 GRCh38 Chromosome 12, 5985605: 5985605
20 VWF NM_000552.4(VWF): c.7940C> T (p.Thr2647Met) single nucleotide variant Uncertain significance rs61751302 GRCh37 Chromosome 12, 6062708: 6062708
21 VWF NM_000552.4(VWF): c.7940C> T (p.Thr2647Met) single nucleotide variant Uncertain significance rs61751302 GRCh38 Chromosome 12, 5953542: 5953542
22 VWF NM_000552.4(VWF): c.1625C> G (p.Ala542Gly) single nucleotide variant Uncertain significance rs141649383 GRCh37 Chromosome 12, 6167119: 6167119
23 VWF NM_000552.4(VWF): c.1625C> G (p.Ala542Gly) single nucleotide variant Uncertain significance rs141649383 GRCh38 Chromosome 12, 6057953: 6057953
24 VWF NM_000552.4(VWF): c.2570A> G (p.Asn857Ser) single nucleotide variant Uncertain significance rs765163545 GRCh37 Chromosome 12, 6143969: 6143969
25 VWF NM_000552.4(VWF): c.2570A> G (p.Asn857Ser) single nucleotide variant Uncertain significance rs765163545 GRCh38 Chromosome 12, 6034803: 6034803

Expression for Von Willebrand Disease, Type 1

Search GEO for disease gene expression data for Von Willebrand Disease, Type 1.

Pathways for Von Willebrand Disease, Type 1

Pathways related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 F2 F3 F8 GP6 VWF
2
Show member pathways
12.27 F2 F3 F8
3 11.55 GP6 VWF
4
Show member pathways
11.42 F2 VWF
5 11.4 F2 F3 F8 VWF
6 11.35 F3 VWF
7
Show member pathways
11.22 F2 F3 F8 GP6 VWF
8 11.04 F2 GP6 VWF
9 10.44 GP6 VWF

GO Terms for Von Willebrand Disease, Type 1

Cellular components related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

Biological processes related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.46 F2 F8 GP6 VWF
2 blood coagulation, intrinsic pathway GO:0007597 9.43 F2 F8 VWF
3 platelet degranulation GO:0002576 9.4 F8 VWF
4 response to wounding GO:0009611 9.37 F2 VWF
5 blood coagulation GO:0007596 9.35 F2 F3 F8 GP6 VWF
6 acute-phase response GO:0006953 9.32 F2 F8
7 hemostasis GO:0007599 9.02 F2 F3 F8 GP6 VWF

Molecular functions related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.96 F3 VWF
2 collagen binding GO:0005518 8.62 GP6 VWF

Sources for Von Willebrand Disease, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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