MCID: CNG021
MIFTS: 57

Congenital Toxoplasmosis

Categories: Rare diseases, Fetal diseases, Infectious diseases, Neuronal diseases

Aliases & Classifications for Congenital Toxoplasmosis

MalaCards integrated aliases for Congenital Toxoplasmosis:

Name: Congenital Toxoplasmosis 12 72 49 55 14
Toxoplasmosis, Congenital 72 41 69
Toxoplasma Embryofetopathy 55
Toxoplasmosis Congenital 51
Toxoplasmosis - Congen. 12
Toxoplasma Embryopathy 55

Characteristics:

Orphanet epidemiological data:

55
congenital toxoplasmosis
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United States); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal;

Classifications:



Summaries for Congenital Toxoplasmosis

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 858Disease definitionCongenital toxoplasmosis (CTX) is an embryo-fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by Toxoplasma gondii (Tg).EpidemiologyGiven its infectious origin, incidence of CTX is variable over time and geographically. Screening policies and methods also influence prevalence calculation. A low estimate of the overall prevalence might be of 1:3,030 births, with symptomatic cases at 1:29,000 births.Clinical descriptionClinical presentation is highly variable. Earlier infection is generally more severe but less frequent. Infections in the first trimester may result in miscarriage or fetal death in utero, whereas later ones may be limited to ocular anomalies. Intracranial calcifications, micro- or macrocephaly, ventricular dilatation and hydrocephalus, hepatomegaly, splenomegaly, cardiomegaly, ascites and intrauterine growth retardation can be observed in infected fetuses. When present, clinical manifestations at birth are maculopapular rash, jaundice, generalized lymphadenopathy, organomegaly, central nervous system anomalies and hyperbilirubinemia, anemia, and thrombocytopenia. The first neurologic manifestation is seizures; nystagmus, hypotonia and, later, delay of developmental milestones acquisition can be seen. The chorioretinitis - intracranial calcifications - hydrocephalus triad is present in 10% of cases. Ocular involvement may develop after months or years, most frequently with chorioretinitis, followed by microphthalmia and strabismus. Visual impairment is highly dependent on the parasite genotype, and probably on prenatal and postnatal treatments.EtiologyCTX is caused by the mother's primo-infection by Tg, an intracellular protozoan parasite of the Apicomplexa phylum, and transmission to the fetus by trans-placental infection. Nearly 25% of exposed fetuses are infected. Mother is infected by Tg through ingestion of ooccysts present in cat faeces and soil, or of cysts present in uncooked meat.Diagnostic methodsDiagnosis relies on evidence of infection in the fetus, the infant or the child with a history of maternal primo-infection during pregnancy or up to 6 months before conception. Given the poor specificity of clinical signs observed in Tg infection, serological findings and PCR amplification of Tg specific sequences are the main diagnostic clues. RT-PCR targeting repetitive DNA segments was reported to be more sensitive and not less specific than previous tests.Differential diagnosisDifferential diagnosis includes other congenital infections (rubella, CMV, HSV1 and HSV2, regrouped with Tg infection in the TORCH syndrome) and pseudo-TORCH and Aicardi-Goutières syndromes (see these terms).Antenatal diagnosisFetal ultrasonography and/or magnetic resonance imaging (MRI) detect and characterize brain, cardiac or placental anomalies. Diagnosis is confirmed only with serological or PCR findings of Tg infection in the mother and the amniotic fluid. Amniocentesis should be performed at least 4 weeks after the mother's seroconversion to avoid false negative results due to latency.Management and treatmentIn several countries, a systematic serological status follow-up of each pregnant woman is organized in order to diagnose and treat early maternal and fetal infections. Seronegative pregnant women are tested regularly to detect seroconversion, with, if needed, a spiramycin-based treatment, expected to reduce vertical transmission. A pyrimethamine-sulphonamide combination is recommended in case of confirmed fetal infection. Neonates should also be treated even if they are asymptomatic at birth since complications may occur later. The benefits of prenatal and postnatal treatment remain to be assessed.PrognosisPrognosis is highly dependent on the parasite genotype, the gestational age at maternal infection and on the timing of prenatal and postnatal treatment.Visit the Orphanet disease page for more resources. Last updated: 2/1/2012

MalaCards based summary : Congenital Toxoplasmosis, also known as toxoplasmosis, congenital, is related to toxoplasmosis and chorioretinitis, and has symptoms including hydrocephalus, microcephaly and hearing impairment. An important gene associated with Congenital Toxoplasmosis is CD40LG (CD40 Ligand), and among its related pathways/superpathways are NF-kappaB Signaling and ICos-ICosL Pathway in T-Helper Cell. The drugs Levoleucovorin and Pyrimethamine have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.

Wikipedia : 72 Toxoplasmosis is a parasitic disease caused by Toxoplasma gondii. Infections with toxoplasmosis usually... more...

Related Diseases for Congenital Toxoplasmosis

Diseases in the Toxoplasmosis family:

Congenital Toxoplasmosis

Diseases related to Congenital Toxoplasmosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 215)
# Related Disease Score Top Affiliating Genes
1 toxoplasmosis 31.5 CD40LG CD79A HLA-DQA1 HLA-DQB1
2 chorioretinitis 30.7 CD40LG CD79A
3 selective igg deficiency disease 10.4 CD40LG CD79A
4 c1q nephropathy 10.4 CD40LG CD79A
5 meningovascular neurosyphilis 10.4 CD40LG CD79A
6 alpha chain disease 10.4 CD40LG CD79A
7 brill-zinsser disease 10.4 CD40LG CD79A
8 exudative glomerulonephritis 10.4 CD40LG CD79A
9 cork-handlers' disease 10.4 CD40LG CD79A
10 salpingo-oophoritis 10.4 CD40LG CD79A
11 early yaws 10.4 CD40LG CD79A
12 ventilation pneumonitis 10.4 CD40LG CD79A
13 chronic interstitial cystitis 10.4 CD40LG CD79A
14 axillary adenitis 10.4 CD40LG CD79A
15 cryofibrinogenemia 10.4 CD40LG CD79A
16 trichostrongyloidiasis 10.4 CD40LG CD79A
17 subacute bacterial endocarditis 10.4 CD40LG CD79A
18 heterophyiasis 10.4 CD40LG CD79A
19 immunoglobulin g deficiency 10.4 CD40LG CD79A
20 orbital granuloma 10.4 CD40LG CD79A
21 transient hypogammaglobulinemia of infancy 10.4 CD40LG CD79A
22 hyperglobulinemic purpura 10.4 CD40LG CD79A
23 gastroduodenitis 10.4 CD40LG CD79A
24 bacterial conjunctivitis 10.4 CD40LG CD79A
25 heavy chain disease 10.4 CD40LG CD79A
26 ophthalmia neonatorum 10.4 CD40LG CD79A
27 immunoglobulin a deficiency 1 10.4 CD40LG CD79A
28 parotid disease 10.4 CD40LG CD79A
29 cerebral arteritis 10.4 CD40LG CD79A
30 selective immunoglobulin deficiency disease 10.4 CD40LG CD79A
31 geniculate herpes zoster 10.4 CD40LG CD79A
32 erythema elevatum diutinum 10.4 CD40LG CD79A
33 sporotrichosis 10.4 CD40LG CD79A
34 fallopian tube disease 10.4 CD40LG CD79A
35 hyperimmunoglobulin syndrome 10.4 CD40LG CD79A
36 congenital syphilis 10.4 CD40LG CD79A
37 polyclonal hypergammaglobulinemia 10.4 CD40LG CD79A
38 monoclonal paraproteinemia 10.4 CD40LG CD79A
39 salpingitis 10.4 CD40LG CD79A
40 ocular toxoplasmosis 10.4 CD40LG CD79A
41 parasitic ichthyosporea infectious disease 10.4 CD40LG CD79A
42 dysgammaglobulinemia 10.4 CD40LG CD79A
43 congenital hypogammaglobulinemia 10.4 CD40LG CD79A
44 acute maxillary sinusitis 10.4 CD40LG CD79A
45 rhinosporidiosis 10.4 CD40LG CD79A
46 chronic polyneuropathy 10.4 CD40LG CD79A
47 spinocerebellar ataxia, autosomal recessive 10 10.4 CD40LG CD79A
48 cd40 ligand deficiency 10.4 CD40LG CD79A
49 secondary syphilis 10.4 CD40LG CD79A
50 yellow nail syndrome 10.4 CD40LG CD79A

Graphical network of the top 20 diseases related to Congenital Toxoplasmosis:



Diseases related to Congenital Toxoplasmosis

Symptoms & Phenotypes for Congenital Toxoplasmosis

Human phenotypes related to Congenital Toxoplasmosis:

55 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
2 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
3 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
4 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
5 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
6 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
7 jaundice 55 31 occasional (7.5%) Occasional (29-5%) HP:0000952
8 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
9 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
10 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
12 failure to thrive in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001531
13 ascites 55 31 occasional (7.5%) Occasional (29-5%) HP:0001541
14 premature birth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001622
15 cardiomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001640
16 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
17 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
18 diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002014
19 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
20 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
21 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0002514
22 lymphadenopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002716
23 elevated hepatic transaminases 55 31 occasional (7.5%) Occasional (29-5%) HP:0002910
24 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007703
25 macule 55 31 occasional (7.5%) Occasional (29-5%) HP:0012733
26 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543

MGI Mouse Phenotypes related to Congenital Toxoplasmosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 ABCA4 CD40LG CD79A HLA-DQA1 HLA-DQB1 NLRP1
2 immune system MP:0005387 9.17 ABCA4 CD40LG CD79A COL2A1 HLA-DQA1 HLA-DQB1

Drugs & Therapeutics for Congenital Toxoplasmosis

Drugs for Congenital Toxoplasmosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 4,Phase 3 68538-85-2
2
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3 58-14-0 4993
3
Spiramycin Approved Phase 4,Phase 3 24916-50-5
4
Sulfadiazine Approved, Investigational, Vet_approved Phase 4,Phase 3 68-35-9 5215
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
6
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 143 6006
7 Anti-Bacterial Agents Phase 4,Phase 3
8 Anti-Infective Agents Phase 4,Phase 3
9 Antimalarials Phase 4,Phase 3
10 Antiparasitic Agents Phase 4,Phase 3
11 Antiprotozoal Agents Phase 4,Phase 3
12 Folic Acid Antagonists Phase 4,Phase 3
13 Vitamin B Complex Phase 4,Phase 3
14 Antidotes Phase 4
15 Bone Density Conservation Agents Phase 4
16 Calcium, Dietary Phase 4
17 Micronutrients Phase 4
18 Protective Agents Phase 4
19 Trace Elements Phase 4
20 Vitamins Phase 4
21 Folate Nutraceutical Phase 4,Phase 3
22 Vitamin B9 Nutraceutical Phase 4,Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis Recruiting NCT00004317 Phase 4 Leucovorin calcium;Pyrimethamine;Spiramycin;Sulfadiazine
2 Assessment of Two Therapeutic Strategies in the Treatment of Children With Congenital Toxoplasmosis Unknown status NCT01202500 Phase 3
3 Prevention of Congenital Toxoplasmosis With Pyrimethamine + Sulfadiazine Versus Spiramycine During Pregnancy Completed NCT01189448 Phase 3 Pyrimethamine/Sulfadiazine;Spiramycine
4 Lyon Cohort of Maternal and Congenital Toxoplasma Infections Recruiting NCT02936921
5 New Diagnostic Approach for Congenital Toxoplasmosis Not yet recruiting NCT03385499

Search NIH Clinical Center for Congenital Toxoplasmosis

Cochrane evidence based reviews: toxoplasmosis, congenital

Genetic Tests for Congenital Toxoplasmosis

Anatomical Context for Congenital Toxoplasmosis

MalaCards organs/tissues related to Congenital Toxoplasmosis:

38
Testes, Brain, Eye, Lymph Node, Bone, Placenta, Temporal Lobe

Publications for Congenital Toxoplasmosis

Articles related to Congenital Toxoplasmosis:

(show top 50) (show all 579)
# Title Authors Year
1
High heterogeneity, mixed infections and new genotypes in human congenital toxoplasmosis cases in the mega-metropolis of Central Mexico. ( 29170005 )
2018
2
Large macular scar secondary to congenital toxoplasmosis. ( 29290459 )
2018
3
Congenital Toxoplasmosis, Cytomegalovirus, and Zika Virus Infections. ( 29037967 )
2018
4
Author Response: Congenital Toxoplasmosis, Cytomegalovirus, and Zika Virus Infections: Emphasis on the Role of Neuroimaging in Screening, Prognostication, and Follow-Up. ( 29037966 )
2018
5
Congenital Toxoplasmosis. ( 28254246 )
2017
6
Diagnosis, Treatment, and Prevention of Congenital Toxoplasmosis in the United States. ( 28138010 )
2017
7
High Frequency of Bone Marrow Depression During Congenital Toxoplasmosis Therapy in a Cohort of Children Identified By Neonatal Screening in Minas Gerais, Brazil. ( 28151845 )
2017
8
Diagnosis of congenital toxoplasmosis in a renal transplant recipient mother. ( 28851620 )
2017
9
Development of a murine vertical transmission model for Toxoplasma gondii oocyst infection and studies on the efficacy of bumped kinase inhibitor (BKI)-1294 and the naphthoquinone buparvaquone against congenital toxoplasmosis. ( 28486633 )
2017
10
Establishing tools for early diagnosis of congenital toxoplasmosis: Flow cytometric IgG avidity assay as a confirmatory test for neonatal screening. ( 28827190 )
2017
11
Ocular Lesions in Congenital Toxoplasmosis in Santa Isabel do IvaA-, ParanA!, Brazil. ( 28640004 )
2017
12
Neuroimaging Findings of Congenital Toxoplasmosis, Cytomegalovirus, and Zika Virus Infections: A Comparison of Three Cases. ( 28780216 )
2017
13
Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving. ( 28692640 )
2017
14
Early serum biomarker networks in infants with distinct retinochoroidal lesion status of congenital toxoplasmosis. ( 28254558 )
2017
15
In Reply: Sulfadoxine-Pyrimethamine Combination in Congenital Toxoplasmosis. ( 28187119 )
2017
16
Sulfadoxine-Pyrimethamine Combination in Congenital Toxoplasmosis. ( 28187118 )
2017
17
Public Health Impact of Congenital Toxoplasmosis and Cytomegalovirus Infection in Belgium, 2013: A Systematic Review and Data Synthesis. ( 28605518 )
2017
18
Congenital Toxoplasmosis in France and the United States: One Parasite, Two Diverging Approaches. ( 28207736 )
2017
19
Association of Parasite Load Levels in Amniotic Fluid With Clinical Outcome in Congenital Toxoplasmosis. ( 28697120 )
2017
20
Genotyping of Toxoplasma gondii strain directly from human CSF samples of congenital toxoplasmosis clinical case. ( 28368078 )
2017
21
IgG Avidity Test in Congenital Toxoplasmosis Diagnoses in Newborns. ( 28629167 )
2017
22
Toxoplasma genotyping in congenital toxoplasmosis in Upper Egypt: evidence of type I strain. ( 28668985 )
2017
23
The disease burden of congenital toxoplasmosis in Denmark, 2014. ( 28558051 )
2017
24
Cytokine Signatures Associated With Early Onset, Active Lesions and Late Cicatricial Events of Retinochoroidal Commitment in Infants With Congenital Toxoplasmosis. ( 26946460 )
2016
25
Late diagnosis of congenital toxoplasmosis based on serological follow-up: A case report. ( 27956093 )
2016
26
Treatment of Congenital Toxoplasmosis: Safety of the Sulfadoxine-Pyrimethamine Combination in Children Based on a Method of Causality Assessment. ( 26906163 )
2016
27
Ocular manifestation of congenital toxoplasmosis, clinical implication - case report. ( 27306134 )
2016
28
Prognosis of Fetal Parenchymal Cerebral Lesions without Ventriculomegaly in Congenital Toxoplasmosis Infection. ( 27093552 )
2016
29
Evaluation of the western blotting method for the diagnosis of congenital toxoplasmosis. ( 27504975 )
2016
30
ANTI-TOXOPLASMA ACTIVITY OF ESTRAGOLE AND THYMOL IN MURINE MODELS OF CONGENITAL AND NON-CONGENITAL TOXOPLASMOSIS. ( 26836848 )
2016
31
IgA and IgG1 reactivities assessed by flow cytometry mirror clinical aspects of infants with ocular congenital toxoplasmosis. ( 26592658 )
2016
32
Laboratory diagnosis of congenital toxoplasmosis. ( 27147724 )
2016
33
Congenital Toxoplasmosis in Chronically Infected and Subsequently Challenged Ewes. ( 27788185 )
2016
34
Outbreak of ovine congenital toxoplasmosis in Iran, confirmed by different diagnostic methods. ( 27065616 )
2016
35
Possibilities for Immunomodulation in Congenital Toxoplasmosis. ( 27357341 )
2016
36
Performance of Polymerase Chain Reaction Analysis of the Amniotic Fluid of Pregnant Women for Diagnosis of Congenital Toxoplasmosis: A Systematic Review and Meta-Analysis. ( 27055272 )
2016
37
Incidence of Symptomatic Congenital Toxoplasmosis During 10 Years in a Brazilian Hospital. ( 27455439 )
2016
38
Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy. ( 26945416 )
2016
39
HLA-DQA1/B1 alleles as putative susceptibility markers in congenital toxoplasmosis. ( 26856406 )
2016
40
Vertical transmission and fetal damage in animal models of congenital toxoplasmosis: A systematic review. ( 27198800 )
2016
41
Effect of Antenatal Treatment on the Severity of Congenital Toxoplasmosis. ( 26689954 )
2016
42
Congenital toxoplasmosis: Clinical features, outcomes, treatment, and prevention. ( 27722099 )
2016
43
Macular scar secondary to congenital toxoplasmosis. ( 28154680 )
2016
44
Congenital toxoplasmosis: an uncommon disease in Thailand. ( 25547178 )
2015
45
Assessment of the IgA immunosorbent agglutination assay for the diagnosis of congenital toxoplasmosis on a series of 145 toxoplasmic seroconversions. ( 25673306 )
2015
46
Congenital toxoplasmosis: an in-depth density-equalizing mapping analysis to explore its global research architecture. ( 26691532 )
2015
47
Congenital Toxoplasmosis: A Review. ( 26802827 )
2015
48
Place of Interferon-I^ Assay for Diagnosis of Congenital Toxoplasmosis. ( 26780025 )
2015
49
Use of IgG in oral fluid to monitor infants with suspected congenital toxoplasmosis. ( 25651923 )
2015
50
Severe congenital toxoplasmosis: a case report and strain characterization. ( 25685568 )
2015

Variations for Congenital Toxoplasmosis

Expression for Congenital Toxoplasmosis

Search GEO for disease gene expression data for Congenital Toxoplasmosis.

Pathways for Congenital Toxoplasmosis

GO Terms for Congenital Toxoplasmosis

Cellular components related to Congenital Toxoplasmosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DQA1 HLA-DQB1
2 transport vesicle membrane GO:0030658 9.26 HLA-DQA1 HLA-DQB1
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DQA1 HLA-DQB1
4 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQA1 HLA-DQB1
5 MHC class II protein complex GO:0042613 8.62 HLA-DQA1 HLA-DQB1

Biological processes related to Congenital Toxoplasmosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation GO:0019882 9.26 HLA-DQA1 HLA-DQB1
2 B cell proliferation GO:0042100 9.16 CD40LG CD79A
3 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.96 HLA-DQA1 HLA-DQB1
4 T cell costimulation GO:0031295 8.8 CD40LG HLA-DQA1 HLA-DQB1

Molecular functions related to Congenital Toxoplasmosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.96 HLA-DQA1 HLA-DQB1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DQA1 HLA-DQB1

Sources for Congenital Toxoplasmosis

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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42 MESH via Orphanet
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47 NDF-RT
50 NINDS
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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