MCID: CNG021
MIFTS: 52

Congenital Toxoplasmosis

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

Aliases & Classifications for Congenital Toxoplasmosis

MalaCards integrated aliases for Congenital Toxoplasmosis:

Name: Congenital Toxoplasmosis 12 75 53 59 15 17 33
Toxoplasmosis, Congenital 75 44 72
Mother-to-Child Transmission of Toxoplasmosis 59
Toxoplasma Embryofetopathy 59
Toxoplasmosis Congenital 55
Toxoplasmosis - Congen. 12
Toxoplasma Embryopathy 59

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Disease Ontology 12 DOID:13336
MeSH 44 D014125
NCIt 50 C50503
SNOMED-CT 68 73893000
ICD10 33 P37.1
MESH via Orphanet 45 D014125
ICD10 via Orphanet 34 P37.1
UMLS via Orphanet 73 C0040560
Orphanet 59 ORPHA858
UMLS 72 C0040560

Summaries for Congenital Toxoplasmosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 858DefinitionCongenital 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-Goutieres 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.

MalaCards based summary : Congenital Toxoplasmosis, also known as toxoplasmosis, congenital, is related to toxoplasmosis and ocular toxoplasmosis. 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 leucovorin have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related phenotypes are abnormality of retinal pigmentation and premature birth

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 : 75 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 209)
# Related Disease Score Top Affiliating Genes
1 toxoplasmosis 31.5 HLA-DQB1 HLA-DQA1 CD79A CD40LG
2 ocular toxoplasmosis 31.1 CD79A CD40LG
3 syphilis 30.6 CD79A CD40LG
4 immune deficiency disease 30.3 CD79A CD40LG
5 congenital syphilis 30.3 CD79A CD40LG
6 meningoencephalitis 30.3 CD79A CD40LG
7 rubella 29.3 HLA-DQB1 CD40LG
8 myocarditis 29.3 HLA-DQB1 CD40LG
9 chorioretinitis 10.7
10 hydrocephalus 10.6
11 congenital hydrocephalus 10.6
12 c1q nephropathy 10.5 CD79A CD40LG
13 immunoglobulin g deficiency 10.5 CD79A CD40LG
14 cryofibrinogenemia 10.5 CD79A CD40LG
15 heparin-induced thrombocytopenia 10.5 CD79A CD40LG
16 sporotrichosis 10.4 CD79A CD40LG
17 immunoglobulin a deficiency 1 10.4 CD79A CD40LG
18 secondary syphilis 10.4 CD79A CD40LG
19 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.4 CD79A CD40LG
20 persistent generalized lymphadenopathy 10.4 CD79A CD40LG
21 immunodeficiency with hyper-igm, type 1 10.4 CD79A CD40LG
22 cryptosporidiosis 10.4 CD79A CD40LG
23 pustulosis palmaris et plantaris 10.4 CD79A CD40LG
24 dysgerminoma of ovary 10.3 CD79A CD40LG
25 legg-calve-perthes disease 10.3 COL2A1 CD40LG
26 marginal zone b-cell lymphoma 10.3 CD79A CD40LG
27 microphthalmia 10.3
28 agammaglobulinemia, x-linked 10.3 CD79A CD40LG
29 strabismus 10.3
30 yemenite deaf-blind hypopigmentation syndrome 10.3
31 mechanical strabismus 10.3
32 cryoglobulinemia 10.2 CD79A CD40LG
33 microcephaly 10.2
34 diabetes insipidus 10.2
35 cataract 10.2
36 iga glomerulonephritis 10.2 CD79A CD40LG
37 retinal detachment 10.2
38 hydrocephalus, congenital, 1 10.2
39 encephalitis 10.2
40 splenomegaly 10.1
41 phenylketonuria 10.1
42 branchiootic syndrome 1 10.1
43 choroiditis 10.1
44 neutropenia 10.1
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
46 sensorineural hearing loss 10.0
47 neuroretinitis 10.0
48 retinitis 10.0
49 hydranencephaly 10.0
50 eye disease 10.0

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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
2 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
7 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
8 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
9 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
10 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
15 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
16 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
17 macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0012733
18 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
19 failure to thrive in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001531
20 elevated hepatic transaminase 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
21 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
22 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
23 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
24 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
25 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
26 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716

MGI Mouse Phenotypes related to Congenital Toxoplasmosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 ABCA4 CD40LG CD79A HLA-DQA1 HLA-DQB1 NLRP1
2 immune system MP:0005387 9.5 ABCA4 CD40LG CD79A COL2A1 HLA-DQA1 HLA-DQB1
3 nervous system MP:0003631 9.1 ABCA4 CD40LG CD79A COL2A1 HLA-DQB1 PRDM13

Drugs & Therapeutics for Congenital Toxoplasmosis

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 4 68538-85-2
2
leucovorin Approved Phase 4 58-05-9 143 6006
3
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
4
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
5
Spiramycin Approved Phase 4 24916-50-5
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
8 Folic Acid Antagonists Phase 4
9 Anti-Infective Agents Phase 4
10 Antiparasitic Agents Phase 4
11 Vitamin B9 Phase 4
12 Folate Phase 4
13 Vitamin B Complex Phase 4
14 Anti-Bacterial Agents Phase 4
15 Antimalarials Phase 4
16 Antiprotozoal Agents Phase 4
17 Hormones Phase 4
18 Micronutrients Phase 4
19 Trace Elements Phase 4
20 Antidotes Phase 4
21 Vitamins Phase 4
22 Protective Agents Phase 4
23 Nutrients Phase 4
24 Calcium, Dietary Phase 4
25 Bone Density Conservation Agents Phase 4
26 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase IV Randomized Study of Pyrimethamine, Sulfadiazine, and Leucovorin Calcium for Congenital Toxoplasmosis Recruiting NCT00004317 Phase 4 Leucovorin calcium;Pyrimethamine;Spiramycin;Sulfadiazine
2 Multicentre, Randomised Study to Determine the Relative Efficacy of Two Therapeutic Strategies in the Treatment of Children With Congenital Toxoplasmosis Unknown status NCT01202500 Phase 3
3 Multicenter, Randomized Clinical Trial to Compare the Efficacy and Tolerance of Prenatal Therapy With Pyrimethamine + Sulfadiazine vs Spiramycine to Reduce Vertical Transmission of Toxoplasma Gondii Following Primary Infection in Pregnancy Completed NCT01189448 Phase 3 Pyrimethamine/Sulfadiazine;Spiramycine
4 Lyon Clinical Research Program on Maternal and Congenital Toxoplasmosis Based on the Toxo-Ly Cohort: Risks and Clinical Consequences, Prevention, Diagnosis and Treatment Recruiting NCT02936921
5 TOXODIAG: New Diagnostic Approach for Congenital Toxoplasmosis Recruiting NCT03385499
6 Protocol Study for a Randomized Controlled Trial of the Effects of Transcranial Direct Current Stimulation (tDCS) Associated With Proprioceptive Training in Blind People Not yet recruiting NCT03173105

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:

41
Testes, Brain, Eye, Lymph Node, Placenta, Bone, T Cells

Publications for Congenital Toxoplasmosis

Articles related to Congenital Toxoplasmosis:

(show top 50) (show all 1834)
# Title Authors PMID Year
1
Recovery of anti-Toxoplasma gondii immunoglobulin M in stored guthrie card blood spots. 9 38
19494076 2009
2
Comparative immunoglobulin G antibody profiles between mother and child (CGMC test) for early diagnosis of congenital toxoplasmosis. 9 38
11015373 2000
3
Three children with congenital toxoplasmosis: early report from a Swedish prospective screening study. 9 38
10419255 1999
4
Detection of Toxoplasma gondii in 94 placentae from infected women by polymerase chain reaction, in vivo, and in vitro cultures. 9 38
9778129 1998
5
Early neonatal diagnosis of congenital toxoplasmosis: value of comparative enzyme-linked immunofiltration assay immunological profiles and anti-Toxoplasma gondii immunoglobulin M (IgM) or IgA immunocapture and implications for postnatal therapeutic strategies. 9 38
8904418 1996
6
Immunoglobulin-A detection and the investigation of clinical toxoplasmosis. 9 38
8474118 1993
7
Platelia-Toxo IgA, a new kit for early diagnosis of congenital toxoplasmosis by detection of anti-P30 immunoglobulin A antibodies. 9 38
1939586 1991
8
Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1). 38
31367689 2019
9
Toxoplasma Screening Results of 84587 Pregnant Women in a Tertiary Referral Center in Turkey. 38
30912697 2019
10
Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies. 38
31043363 2019
11
Study of brainstem auditory evoked potentials in early diagnosis of congenital toxoplasmosis. 38
29929810 2019
12
Incidence of toxoplasmosis in pregnancy in Campania: A population-based study on screening, treatment, and outcome. 38
31404785 2019
13
Efficacy of sulfadiazine and pyrimetamine for treatment of experimental toxoplasmosis with strains obtained from human cases of congenital disease in Brazil. 38
31077733 2019
14
Toxoplasmosis in Germany. 38
31423982 2019
15
Detection and genotypic characterization of Toxoplasma gondii DNA within the milk of Mongolian livestock. 38
30982139 2019
16
Risk of congenital toxoplasmosis in women with low or indeterminate anti-Toxoplasma IgG avidity index in the first trimester of pregnancy: an observational retrospective study. 38
30315959 2019
17
Susceptibility of human villous (BeWo) and extravillous (HTR-8/SVneo) trophoblast cells to Toxoplasma gondii infection is modulated by intracellular iron availability. 38
30796516 2019
18
Congenital toxoplasmosis: the challenge of early diagnosis of a complex and neglected disease. 38
30994797 2019
19
Sero-epidemiological status and risk factors of toxoplasmosis in pregnant women in Northern Vietnam. 38
30999869 2019
20
Resveratrol as a Therapy to Restore Neurogliogenesis of Neural Progenitor Cells Infected by Toxoplasma gondii. 38
30027338 2019
21
Seasonality of births in horizontal strabismus: comparison with birth seasonality in schizophrenia and other disease conditions. 38
30898179 2019
22
How does toxoplasmosis affect the maternal-foetal immune interface and pregnancy? 38
30471137 2019
23
Congenital toxoplasmosis and proposal of a new classification for the likelihood of primary maternal infection: analysis of 375 cases in Southeast Italy. 38
30835583 2019
24
Maternal and Congenital Toxoplasmosis: Diagnosis and Treatment Recommendations of a French Multidisciplinary Working Group. 38
30781652 2019
25
Congenital human toxoplasmosis caused by non-clonal Toxoplasma gondii genotypes in Argentina. 38
30304711 2019
26
Interpretation of very low avidity indices acquired with the Liaison XL Toxo IgG avidity assay in dating toxoplasmosis infection. 38
30411219 2019
27
Potential public health benefits from cat eradications on islands. 38
30763304 2019
28
Detection of Toxoplasma gondii B1 gene in placenta does not prove congenital toxoplasmosis. 38
30103311 2019
29
Congenital toxoplasmosis among Iranian neonates: a systematic review and meta-analysis. 38
31096746 2019
30
Congenital toxoplasmosis in the United States: clinical and serologic findings in infants born to mothers treated during pregnancy. 38
30838974 2019
31
Brazilian strains of Toxoplasma gondii are controlled by azithromycin and modulate cytokine production in human placental explants. 38
30665403 2019
32
Prevalence and Risk Factors of Toxoplasma gondii Infection among Pregnant Women in Hormozgan Province, South of Iran. 38
31123482 2019
33
Maternal Immune Response During Pregnancy and Vertical Transmission in Human Toxoplasmosis. 38
30846989 2019
34
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies. 38
30891027 2019
35
Congenital toxoplasmosis: An overview of the neurological and ocular manifestations. 38
30041005 2018
36
On being a pathologist: a pathway to pathology practice; the added value of supplemental vocational training and mentoring in college and medical school. 38
30267777 2018
37
Zika virus exposure in pregnancy and its association with newborn visual anomalies and hearing loss. 38
30191558 2018
38
Patient and treatment pathways for toxoplasmosis in the United States: data analysis of the Vizient Health Systems Data from 2011 to 2017. 38
30526421 2018
39
Evaluating of Wistar rat and BALB/c mouse as animal models for congenital, cerebral and ocular toxoplasmosis. 38
30367763 2018
40
Genotyping of Toxoplasma gondii: The advantages of variable number tandem repeats within coding regions. 38
30048811 2018
41
Secondary prophylaxis of toxoplasmosis in pregnancy in an HIV-positive woman. 38
29749872 2018
42
Decline of Seroprevalence and Incidence of Congenital Toxoplasmosis Despite Changing Prevention Policy-Three Decades of Cord-blood Screening in North-western Switzerland. 38
29561516 2018
43
Neonatal fever: A puzzling case. 38
30249489 2018
44
Evaluation of five automated and one manual method for Toxoplasma and human DNA extraction from artificially spiked amniotic fluid. 38
29373837 2018
45
Treatment of Toxoplasmosis: Historical Perspective, Animal Models, and Current Clinical Practice. 38
30209035 2018
46
Evaluation of Three Point-of-Care Tests for Detection of Toxoplasma Immunoglobulin IgG and IgM in the United States: Proof of Concept and Challenges. 38
30393749 2018
47
Prenatal therapy with pyrimethamine + sulfadiazine vs spiramycin to reduce placental transmission of toxoplasmosis: a multicenter, randomized trial. 38
29870736 2018
48
Global initiative for congenital toxoplasmosis: an observational and international comparative clinical analysis. 38
30262847 2018
49
The Utility of Head Computed Tomography in the Evaluation of Apparent Life-Threatening Event. 38
27741078 2018
50
Cellular immunopathogenesis in primary Toxoplasma gondii infection during pregnancy. 38
29971806 2018

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 endocytic vesicle membrane GO:0030666 9.37 HLA-DQB1 HLA-DQA1
2 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DQB1 HLA-DQA1
3 transport vesicle membrane GO:0030658 9.26 HLA-DQB1 HLA-DQA1
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DQB1 HLA-DQA1
5 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQB1 HLA-DQA1
6 MHC class II protein complex GO:0042613 8.62 HLA-DQB1 HLA-DQA1

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

# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 9.32 CD79A CD40LG
2 interferon-gamma-mediated signaling pathway GO:0060333 9.26 HLA-DQB1 HLA-DQA1
3 antigen processing and presentation GO:0019882 9.16 HLA-DQB1 HLA-DQA1
4 B cell proliferation GO:0042100 8.96 CD79A CD40LG
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.62 HLA-DQB1 HLA-DQA1

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-DQB1 HLA-DQA1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DQA1

Sources for Congenital Toxoplasmosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....