PG4D
MCID: PLT004
MIFTS: 44

Platelet Glycoprotein Iv Deficiency (PG4D)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Platelet Glycoprotein Iv Deficiency

MalaCards integrated aliases for Platelet Glycoprotein Iv Deficiency:

Name: Platelet Glycoprotein Iv Deficiency 58 12 76 30 13 6 74
Cd36 Deficiency 58 12 76 38
Bdplt10 58 12 76
Platelet-Type Bleeding Disorder 10 12 15
Bleeding Disorder, Platelet-Type, 10; Bdplt10 58
Bleeding Disorder, Platelet-Type, 10 58
Deficiency, Platelet Glycoprotein Iv 41
Bleeding Disorder Platelet-Type 10 76
Pg4d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two types of platelet gpiv deficiency - type i, absence gpiv on monocytes and type ii, presence gpiv on monocytes


HPO:

33
platelet glycoprotein iv deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111046
OMIM 58 608404
KEGG 38 H01108
MeSH 45 D013921
MedGen 43 C1842090
UMLS 74 C1842090

Summaries for Platelet Glycoprotein Iv Deficiency

UniProtKB/Swiss-Prot : 76 Platelet glycoprotein IV deficiency: A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency. Platelet glycoprotein IV deficiency can be divided into 2 subgroups. The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting complete CD36 deficiency. The type II phenotype lacks the surface expression of CD36 in platelets, but expression in monocytes/macrophages is near normal.

MalaCards based summary : Platelet Glycoprotein Iv Deficiency, also known as cd36 deficiency, is related to diabetes mellitus, noninsulin-dependent and hypertrophic cardiomyopathy. An important gene associated with Platelet Glycoprotein Iv Deficiency is CD36 (CD36 Molecule), and among its related pathways/superpathways are PPAR signaling pathway and Phagosome. Affiliated tissues include monocytes, heart and neutrophil, and related phenotypes are thrombocytopenia and abnormality of the endocrine system

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material basis in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.

Description from OMIM: 608404

Related Diseases for Platelet Glycoprotein Iv Deficiency

Diseases related to Platelet Glycoprotein Iv Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, noninsulin-dependent 10.3
2 hypertrophic cardiomyopathy 10.1
3 atrial standstill 1 9.8
4 takayasu arteritis 9.8
5 diabetes mellitus 9.8
6 dilated cardiomyopathy 9.8
7 hepatitis 9.8
8 thrombocytopenia 9.8
9 heart disease 9.8
10 hypoglycemia 9.8
11 broken heart syndrome 9.8
12 fasting hypoglycemia 9.8
13 seizure disorder 9.8
14 osteochondrosis 9.8 CD36 GNPTAB
15 babesiosis 9.7 CD36 THBS1
16 corneal neovascularization 9.6 CD36 THBS1

Graphical network of the top 20 diseases related to Platelet Glycoprotein Iv Deficiency:



Diseases related to Platelet Glycoprotein Iv Deficiency

Symptoms & Phenotypes for Platelet Glycoprotein Iv Deficiency

Human phenotypes related to Platelet Glycoprotein Iv Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 HP:0001873
2 abnormality of the endocrine system 33 HP:0000818
3 prolonged bleeding time 33 HP:0003010
4 giant platelets 33 HP:0001902

Symptoms via clinical synopsis from OMIM:

58
Hematology:
thrombocytopenia
giant platelets
variable bleeding tendencies
no neutrophil inclusions
low-to-normal platelet count (45 x 10(9)/l)
more

Clinical features from OMIM:

608404

MGI Mouse Phenotypes related to Platelet Glycoprotein Iv Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 ABCG1 CD36 GNPTAB PDK4 THBS1
2 hematopoietic system MP:0005397 9.8 ABCG1 CD36 GNPTAB PDK4 SCARB2 THBS1
3 growth/size/body region MP:0005378 9.77 ABCG1 CD36 GNPTAB SCARB2 THBS1
4 homeostasis/metabolism MP:0005376 9.73 ABCG1 CD36 GNPTAB PDK4 SCARB2 THBS1
5 immune system MP:0005387 9.63 ABCG1 CD36 GNPTAB PDK4 SCARB2 THBS1
6 renal/urinary system MP:0005367 9.35 ABCG1 CD36 GNPTAB SCARB2 THBS1
7 skeleton MP:0005390 9.02 ABCG1 CD36 GNPTAB PDK4 THBS1

Drugs & Therapeutics for Platelet Glycoprotein Iv Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metabolic and Cardiovascular Impact of CD36 Deficiency in African Americans Completed NCT02126735

Search NIH Clinical Center for Platelet Glycoprotein Iv Deficiency

Genetic Tests for Platelet Glycoprotein Iv Deficiency

Genetic tests related to Platelet Glycoprotein Iv Deficiency:

# Genetic test Affiliating Genes
1 Platelet Glycoprotein Iv Deficiency 30 CD36

Anatomical Context for Platelet Glycoprotein Iv Deficiency

MalaCards organs/tissues related to Platelet Glycoprotein Iv Deficiency:

42
Monocytes, Heart, Neutrophil, Brain, Lymph Node, Small Intestine, T Cells

Publications for Platelet Glycoprotein Iv Deficiency

Articles related to Platelet Glycoprotein Iv Deficiency:

(show top 50) (show all 72)
# Title Authors Year
1
A string of 12 mutations in Intron 3 is a new clue associated with Type II CD36 deficiency. ( 30840330 )
2019
2
2-Year follow-up of a patient with CD36 deficiency and takotsubo cardiomyopathy. ( 30187241 )
2018
3
CD36 deficiency attenuates immune-mediated hepatitis in mice by modulating the proapoptotic effects of CXC chemokine ligand 10. ( 29220536 )
2018
4
CD36 deficiency impairs the small intestinal barrier and induces subclinical inflammation in mice. ( 28066800 )
2017
5
CD36 Deficiency Suppresses Epileptic Seizures. ( 29111364 )
2017
6
Cluster Differentiating 36 (CD36) Deficiency Attenuates Obesity-Associated Oxidative Stress in the Heart. ( 27195707 )
2016
7
Incidence and molecular basis of CD36 deficiency in Shanghai population. ( 25330908 )
2015
8
CD36 deficiency blunts effects of diet on regulatory T cells in murine gonadal adipose tissue and mesenteric lymph nodes. ( 26344897 )
2015
9
Free fatty acid uptake in humans with CD36 deficiency. ( 24917573 )
2014
10
Studies on CD36 deficiency in South China: Two cases demonstrating the clinical impact of anti-CD36 antibodies. ( 23966019 )
2013
11
The Whole Genome Expression Analysis using Two Microarray Technologies to Identify Gene Networks That Mediate the Myocardial Phenotype of CD36 Deficiency. ( 24250110 )
2013
12
Patients with CD36 deficiency are associated with enhanced atherosclerotic cardiovascular diseases. ( 22075538 )
2012
13
CD36 deficiency predisposing young children to fasting hypoglycemia. ( 20947105 )
2011
14
Refractory platelet transfusion in a patient with CD36 deficiency due to pseudothrombocytopenia. ( 21143025 )
2011
15
CD36 deficiency attenuates experimental mycobacterial infection. ( 20950462 )
2010
16
Chylomicron remnants are increased in the postprandial state in CD36 deficiency. ( 18753675 )
2009
17
CD36 deficiency protects against malarial anaemia in children by reducing Plasmodium falciparum-infected red blood cell adherence to vascular endothelium. ( 19413744 )
2009
18
CD36 deficiency leads to choroidal involution via COX2 down-regulation in rodents. ( 18288886 )
2008
19
Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene. ( 18462250 )
2008
20
Elevated plasma plasminogen activator inhibitor-1 in CD36 deficiency. ( 18820218 )
2008
21
Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol. ( 18305138 )
2008
22
Thiamine attenuates the hypertension and metabolic abnormalities in CD36-defective SHR: uncoupling of glucose oxidation from cellular entry accompanied with enhanced protein O-GlcNAcylation in CD36 deficiency. ( 16645728 )
2007
23
CD36 deficiency rescues lipotoxic cardiomyopathy. ( 17363697 )
2007
24
Attenuated aerobic exercise capacity in CD36 deficiency. ( 17412877 )
2007
25
Type I CD36 deficiency associated with metabolic syndrome and vasospastic angina: a case report. ( 16886497 )
2006
26
CD36 deficiency impairs intestinal lipid secretion and clearance of chylomicrons from the blood. ( 15841205 )
2005
27
Takotsubo-shaped cardiomyopathy with type I CD36 deficiency. ( 15912310 )
2005
28
CD36 deficiency in mice impairs lipoprotein lipase-mediated triglyceride clearance. ( 16024917 )
2005
29
CD36 expression and brain function: does CD36 deficiency impact learning ability? ( 16099393 )
2005
30
Four unrelated cases with Takayasu arteritis and CD36 deficiency: possible link between these disorders. ( 15147534 )
2004
31
Fatty acid translocase/CD36 deficiency does not energetically or functionally compromise hearts before or after ischemia. ( 15023869 )
2004
32
Influence of CD36 deficiency on heart disease in children. ( 15118284 )
2004
33
Genotype in human CD36 deficiency and diabetes mellitus. ( 15270806 )
2004
34
Type I CD36 deficiency in hematologic disorder. ( 15339698 )
2004
35
Insulin sensitivity and lipid metabolism in human CD36 deficiency. ( 12547883 )
2003
36
CD36 deficiency and absent myocardial iodine-123-(R,S)-15-(p-iodophenyl)-3-methylpentadecanoic acid uptake in a girl with cardiomyopathy. ( 12647201 )
2003
37
Lipoprotein abnormalities in human genetic CD36 deficiency associated with insulin resistance and abnormal fatty acid metabolism. ( 12716848 )
2003
38
Pathophysiology of human genetic CD36 deficiency. ( 12732446 )
2003
39
CD36 deficiency increases insulin sensitivity in muscle, but induces insulin resistance in the liver in mice. ( 12923231 )
2003
40
CD36 polymorphism is associated with protection from cerebral malaria. ( 12506336 )
2003
41
CD36 deficiency induced by antiretroviral therapy. ( 11834946 )
2002
42
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency. ( 11950861 )
2002
43
Genomic heterogeneity of type II CD36 deficiency. ( 12031598 )
2002
44
CD36 deficiency associated with insulin resistance. ( 11247555 )
2001
45
CD36 deficiency and insulin resistance. ( 11480435 )
2001
46
CD36 deficiency and insulin resistance. ( 11480436 )
2001
47
CD36 deficiency and insulin resistance. ( 11480437 )
2001
48
Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man. ( 11499670 )
2001
49
A patient with type I CD36 deficiency whose myocardium accumulated 123I-BMIPP after 4 years. ( 11545201 )
2001
50
Erythroid involvement in CD36 deficiency. ( 11602321 )
2001

Variations for Platelet Glycoprotein Iv Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Platelet Glycoprotein Iv Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 CD36 p.Pro90Ser VAR_017913 rs75326924
2 CD36 p.Phe254Leu VAR_017917 rs142186404
3 CD36 p.Ile413Leu VAR_017919 rs121918035

ClinVar genetic disease variations for Platelet Glycoprotein Iv Deficiency:

6 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD36 NM_001001547.2(CD36): c.268C> T (p.Pro90Ser) single nucleotide variant Pathogenic rs75326924 GRCh37 Chromosome 7, 80286003: 80286003
2 CD36 NM_001001547.2(CD36): c.268C> T (p.Pro90Ser) single nucleotide variant Pathogenic rs75326924 GRCh38 Chromosome 7, 80656687: 80656687
3 CD36 NM_001001547.2(CD36): c.975T> G (p.Tyr325Ter) single nucleotide variant Benign rs3211938 GRCh37 Chromosome 7, 80300449: 80300449
4 CD36 NM_001001547.2(CD36): c.975T> G (p.Tyr325Ter) single nucleotide variant Benign rs3211938 GRCh38 Chromosome 7, 80671133: 80671133
5 CD36 CD36, G1439C, 1-BP DEL, 1444A deletion Pathogenic,risk factor
6 CD36 NM_001001547.2(CD36): c.120+399TG[12] short repeat Pathogenic,protective GRCh37 Chromosome 7, 80276575: 80276575
7 CD36 NM_001001547.2(CD36): c.120+399TG[12] short repeat Pathogenic,protective GRCh38 Chromosome 7, 80647259: 80647259
8 CD36 NM_001001547.2(CD36): c.949dup (p.Ile317Asnfs) duplication Pathogenic rs70961716 GRCh37 Chromosome 7, 80300423: 80300423
9 CD36 NM_001001547.2(CD36): c.949dup (p.Ile317Asnfs) duplication Pathogenic rs70961716 GRCh38 Chromosome 7, 80671107: 80671107
10 CD36 NM_001001547.2(CD36): c.760T> C (p.Phe254Leu) single nucleotide variant Pathogenic rs142186404 GRCh37 Chromosome 7, 80299280: 80299280
11 CD36 NM_001001547.2(CD36): c.760T> C (p.Phe254Leu) single nucleotide variant Pathogenic rs142186404 GRCh38 Chromosome 7, 80669964: 80669964
12 CD36 NM_001001547.2(CD36): c.1237A> C (p.Ile413Leu) single nucleotide variant Pathogenic rs121918035 GRCh37 Chromosome 7, 80302708: 80302708
13 CD36 NM_001001547.2(CD36): c.1237A> C (p.Ile413Leu) single nucleotide variant Pathogenic rs121918035 GRCh38 Chromosome 7, 80673392: 80673392
14 CD36 NM_001001547.2(CD36): c.332_333delCA (p.Thr111Serfs) deletion Pathogenic rs572295823 GRCh37 Chromosome 7, 80290429: 80290430
15 CD36 NM_001001547.2(CD36): c.332_333delCA (p.Thr111Serfs) deletion Pathogenic rs572295823 GRCh38 Chromosome 7, 80661113: 80661114
16 CD36 NM_001001547.2(CD36): c.1228_1239del12 (p.Ile410_Ile413del) deletion Likely pathogenic rs550565800 GRCh37 Chromosome 7, 80302699: 80302710
17 CD36 NM_001001547.2(CD36): c.1228_1239del12 (p.Ile410_Ile413del) deletion Likely pathogenic rs550565800 GRCh38 Chromosome 7, 80673383: 80673394
18 CD36 NM_001001547.2(CD36): c.-211C> T single nucleotide variant Uncertain significance rs151218598 GRCh37 Chromosome 7, 80231668: 80231668
19 CD36 NM_001001547.2(CD36): c.-211C> T single nucleotide variant Uncertain significance rs151218598 GRCh38 Chromosome 7, 80602352: 80602352
20 CD36 NM_001001547.2(CD36): c.-209C> T single nucleotide variant Uncertain significance rs539733007 GRCh37 Chromosome 7, 80231670: 80231670
21 CD36 NM_001001547.2(CD36): c.-209C> T single nucleotide variant Uncertain significance rs539733007 GRCh38 Chromosome 7, 80602354: 80602354
22 CD36 NM_001001547.2(CD36): c.282-14T> A single nucleotide variant Uncertain significance rs754938089 GRCh38 Chromosome 7, 80661049: 80661049
23 CD36 NM_001001547.2(CD36): c.282-14T> A single nucleotide variant Uncertain significance rs754938089 GRCh37 Chromosome 7, 80290365: 80290365
24 CD36 NM_001001547.2(CD36): c.682G> A (p.Asp228Asn) single nucleotide variant Uncertain significance rs774794181 GRCh38 Chromosome 7, 80664478: 80664478
25 CD36 NM_001001547.2(CD36): c.682G> A (p.Asp228Asn) single nucleotide variant Uncertain significance rs774794181 GRCh37 Chromosome 7, 80293794: 80293794
26 CD36 NM_001001547.2(CD36): c.*47A> G single nucleotide variant Uncertain significance rs759397538 GRCh38 Chromosome 7, 80674194: 80674194
27 CD36 NM_001001547.2(CD36): c.*47A> G single nucleotide variant Uncertain significance rs759397538 GRCh37 Chromosome 7, 80303510: 80303510
28 CD36 NM_001001547.2(CD36): c.-375G> C single nucleotide variant Likely benign rs1194182 GRCh37 Chromosome 7, 80231504: 80231504
29 CD36 NM_001001547.2(CD36): c.-375G> C single nucleotide variant Likely benign rs1194182 GRCh38 Chromosome 7, 80602188: 80602188
30 CD36 NM_001001547.2(CD36): c.-325G> A single nucleotide variant Uncertain significance rs886062448 GRCh37 Chromosome 7, 80231554: 80231554
31 CD36 NM_001001547.2(CD36): c.-325G> A single nucleotide variant Uncertain significance rs886062448 GRCh38 Chromosome 7, 80602238: 80602238
32 CD36 NM_001001547.2(CD36): c.-208C> T single nucleotide variant Uncertain significance rs886062451 GRCh37 Chromosome 7, 80231671: 80231671
33 CD36 NM_001001547.2(CD36): c.-208C> T single nucleotide variant Uncertain significance rs886062451 GRCh38 Chromosome 7, 80602355: 80602355
34 CD36 NM_001001547.2(CD36): c.121-6T> C single nucleotide variant Likely benign rs3173798 GRCh37 Chromosome 7, 80285850: 80285850
35 CD36 NM_001001547.2(CD36): c.121-6T> C single nucleotide variant Likely benign rs3173798 GRCh38 Chromosome 7, 80656534: 80656534
36 CD36 NM_001001547.2(CD36): c.159T> C (p.Asn53=) single nucleotide variant Uncertain significance rs886062452 GRCh38 Chromosome 7, 80656578: 80656578
37 CD36 NM_001001547.2(CD36): c.159T> C (p.Asn53=) single nucleotide variant Uncertain significance rs886062452 GRCh37 Chromosome 7, 80285894: 80285894
38 CD36 NM_001001547.2(CD36): c.390A> T (p.Thr130=) single nucleotide variant Uncertain significance rs148114593 GRCh38 Chromosome 7, 80661171: 80661171
39 CD36 NM_001001547.2(CD36): c.390A> T (p.Thr130=) single nucleotide variant Uncertain significance rs148114593 GRCh37 Chromosome 7, 80290487: 80290487
40 CD36 NM_001001547.2(CD36): c.1133G> T (p.Gly378Val) single nucleotide variant Uncertain significance rs146027667 GRCh38 Chromosome 7, 80672777: 80672777
41 CD36 NM_001001547.2(CD36): c.1133G> T (p.Gly378Val) single nucleotide variant Uncertain significance rs146027667 GRCh37 Chromosome 7, 80302093: 80302093
42 CD36 NM_001001547.2(CD36): c.1220_1222delGGA (p.Arg407del) deletion Uncertain significance rs773274847 GRCh38 Chromosome 7, 80673375: 80673377
43 CD36 NM_001001547.2(CD36): c.1220_1222delGGA (p.Arg407del) deletion Uncertain significance rs773274847 GRCh37 Chromosome 7, 80302691: 80302693
44 CD36 NM_001001547.2(CD36): c.*202G> T single nucleotide variant Uncertain significance rs143304806 GRCh38 Chromosome 7, 80674349: 80674349
45 CD36 NM_001001547.2(CD36): c.*202G> T single nucleotide variant Uncertain significance rs143304806 GRCh37 Chromosome 7, 80303665: 80303665
46 CD36 NM_001001547.2(CD36): c.*226A> G single nucleotide variant Uncertain significance rs8956 GRCh38 Chromosome 7, 80674373: 80674373
47 CD36 NM_001001547.2(CD36): c.*226A> G single nucleotide variant Uncertain significance rs8956 GRCh37 Chromosome 7, 80303689: 80303689
48 CD36 NM_001001547.2(CD36): c.-286C> A single nucleotide variant Uncertain significance rs886062450 GRCh37 Chromosome 7, 80231593: 80231593
49 CD36 NM_001001547.2(CD36): c.-286C> A single nucleotide variant Uncertain significance rs886062450 GRCh38 Chromosome 7, 80602277: 80602277
50 CD36 NM_001001547.2(CD36): c.374C> T (p.Ser125Leu) single nucleotide variant Uncertain significance rs886062453 GRCh38 Chromosome 7, 80661155: 80661155

Expression for Platelet Glycoprotein Iv Deficiency

Search GEO for disease gene expression data for Platelet Glycoprotein Iv Deficiency.

Pathways for Platelet Glycoprotein Iv Deficiency

Pathways related to Platelet Glycoprotein Iv Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 PPAR signaling pathway hsa03320
2 Phagosome hsa04145
3 Adipocytokine signaling pathway hsa04920
4 Fat digestion and absorption hsa04975

Pathways related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 CD36 THBS1
2
Show member pathways
11.34 CD36 THBS1
3 11.05 GNPTAB SCARB2
4 10.31 CD36 THBS1

GO Terms for Platelet Glycoprotein Iv Deficiency

Cellular components related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.16 CD36 THBS1
2 Golgi membrane GO:0000139 9.13 ABCG1 GNPTAB SCARB2
3 external side of plasma membrane GO:0009897 8.8 ABCG1 CD36 THBS1

Biological processes related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.32 CD36 THBS1
2 positive regulation of reactive oxygen species metabolic process GO:2000379 9.26 CD36 THBS1
3 cholesterol transport GO:0030301 9.16 ABCG1 CD36
4 response to lipid GO:0033993 8.96 ABCG1 CD36
5 positive regulation of blood coagulation GO:0030194 8.62 CD36 THBS1

Molecular functions related to Platelet Glycoprotein Iv Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 9.16 CD36 SCARB2
2 transforming growth factor beta binding GO:0050431 8.96 CD36 THBS1
3 low-density lipoprotein particle binding GO:0030169 8.62 CD36 THBS1

Sources for Platelet Glycoprotein Iv Deficiency

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
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45 MeSH
46 MESH via Orphanet
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50 NCI
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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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