MVA1
MCID: MSC109
MIFTS: 34

Mosaic Variegated Aneuploidy Syndrome 1 (MVA1) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome 1

Aliases & Descriptions for Mosaic Variegated Aneuploidy Syndrome 1:

Name: Mosaic Variegated Aneuploidy Syndrome 1 54 12 24 66 13
Mva Syndrome 24 66
Mosaic Variegated Aneuploidy Syndrome 69
Congenital Chromosomal Disease 69
Chromosome Disorders 42
Mva1 66

Characteristics:

HPO:

32
mosaic variegated aneuploidy syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 257300
Disease Ontology 12 DOID:0080141
MedGen 40 C1850343
MeSH 42 D025063

Summaries for Mosaic Variegated Aneuploidy Syndrome 1

OMIM : 54 Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly... (257300) more...

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome 1, also known as mva syndrome, is related to mosaic variegated aneuploidy syndrome and mosaic variegated aneuploidy syndrome 2, and has symptoms including malar flattening, hypertelorism and low-set ears. An important gene associated with Mosaic Variegated Aneuploidy Syndrome 1 is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B). The drugs Cetrorelix and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 Mosaic variegated aneuploidy syndrome 1: A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases.

Related Diseases for Mosaic Variegated Aneuploidy Syndrome 1

Diseases in the Mosaic Variegated Aneuploidy Syndrome family:

Mosaic Variegated Aneuploidy Syndrome 2 Mosaic Variegated Aneuploidy Syndrome 1

Diseases related to Mosaic Variegated Aneuploidy Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
id Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 11.5
2 mosaic variegated aneuploidy syndrome 2 10.9
3 chromosomal disease 10.6
4 diploid-triploid mosaicism 10.4
5 emanuel syndrome 10.4
6 tetrasomy x 10.4
7 trisomy 22 10.4
8 jacobsen syndrome 10.2
9 chromosome 9q deletion 10.2
10 chromosome 13q14 deletion syndrome 10.2
11 chromosome 9q duplication 10.2
12 chromosome 18p deletion syndrome 10.2
13 turner syndrome 10.2
14 distal chromosome 18q deletion syndrome 10.2
15 mosaic trisomy 14 10.2
16 cri-du-chat syndrome 10.2
17 mosaic trisomy 22 10.2
18 orofaciodigital syndrome viii 10.2
19 mbd5 haploinsufficiency 10.2
20 chromosome 3q29 deletion syndrome 10.2
21 16q24.3 microdeletion syndrome 10.2
22 proximal chromosome 18q deletion syndrome 10.2
23 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.2
24 chromosome 13q duplication 10.2
25 tetrasomy 9p 10.2
26 chromosome 14q deletion 10.2
27 chromosome 16p13.3 deletion syndrome 10.2
28 tracheoesophageal fistula 10.2
29 chromosome 16q deletion 10.2
30 trisomy 2 mosaicism 10.2
31 chromosome 1p36 deletion syndrome 10.2
32 chromosome 18p tetrasomy 10.2
33 chromosome 19p deletion 10.2
34 distal trisomy 10q 10.2
35 patau syndrome 10.2
36 chromosome 22q duplication 10.2
37 down syndrome 10.2
38 chromosome 9p duplication 10.2
39 ciliopathy 9.7
40 neural tube defects 9.5
41 gonadal dysgenesis 9.3
42 mixed gonadal dysgenesis 9.3
43 epilepsy 9.3
44 pelizaeus-merzbacher disease 9.3
45 infertility 9.3
46 48, xxxx 9.3
47 craniosynostosis 9.3
48 male infertility 9.3
49 primary ciliary dyskinesia 9.3
50 wolf-hirschhorn syndrome 9.3

Graphical network of the top 20 diseases related to Mosaic Variegated Aneuploidy Syndrome 1:



Diseases related to Mosaic Variegated Aneuploidy Syndrome 1

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome 1

Symptoms by clinical synopsis from OMIM:

257300

Clinical features from OMIM:

257300

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome 1:

32 (show top 50) (show all 51)
id Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 agenesis of corpus callosum 32 HP:0001274
6 hydrocephalus 32 HP:0000238
7 nystagmus 32 HP:0000639
8 cataract 32 HP:0000518
9 depressed nasal bridge 32 HP:0005280
10 short nose 32 HP:0003196
11 microcephaly 32 HP:0000252
12 anteverted nares 32 HP:0000463
13 short stature 32 HP:0004322
14 feeding difficulties in infancy 32 HP:0008872
15 brachycephaly 32 HP:0000248
16 cleft palate 32 HP:0000175
17 long philtrum 32 HP:0000343
18 micrognathia 32 HP:0000347
19 generalized myoclonic seizures 32 HP:0002123
20 epicanthus 32 HP:0000286
21 severe global developmental delay 32 HP:0011344
22 cryptorchidism 32 HP:0000028
23 postnatal growth retardation 32 HP:0008897
24 generalized tonic-clonic seizures 32 HP:0002069
25 ventriculomegaly 32 HP:0002119
26 cerebellar hypoplasia 32 HP:0001321
27 intrauterine growth retardation 32 HP:0001511
28 hypospadias 32 HP:0000047
29 upslanted palpebral fissure 32 HP:0000582
30 intellectual disability, profound 32 HP:0002187
31 high forehead 32 HP:0000348
32 midface retrusion 32 HP:0011800
33 oligohydramnios 32 HP:0001562
34 ambiguous genitalia 32 HP:0000062
35 bifid scrotum 32 HP:0000048
36 wide nose 32 HP:0000445
37 dandy-walker malformation 32 HP:0001305
38 nephroblastoma 32 HP:0002667
39 micropenis 32 HP:0000054
40 rhabdomyosarcoma 32 HP:0002859
41 renal cyst 32 HP:0000107
42 generalized hypotonia 32 HP:0001290
43 small for gestational age 32 HP:0001518
44 posteriorly rotated ears 32 HP:0000358
45 leukemia 32 HP:0001909
46 triangular mouth 32 HP:0000207
47 cerebral hypoplasia 32 HP:0006872
48 short sternum 32 HP:0000879
49 premature chromatid separation 32 HP:0200024
50 combined immunodeficiency 32 HP:0005387

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome 1

Drugs for Mosaic Variegated Aneuploidy Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 554)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetrorelix Approved, Investigational Phase 4,Phase 3 120287-85-6 16129715 25074887
2
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994
3
Asparaginase Approved Phase 4,Phase 3,Phase 2,Phase 1 9015-68-3
4
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
5
Daunorubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 20830-81-3 30323
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
7
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 58957-92-9 42890
8
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
9
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
10
Bortezomib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 179324-69-7 387447 93860
11
Doxorubicin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23214-92-8 31703
12
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
13
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
14
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
15
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-23-7 5754 657311
16
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
17
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
18
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
19
Dasatinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 302962-49-8 3062316
20
Lenalidomide Approved Phase 4,Phase 3,Phase 2,Phase 1 191732-72-6 216326
21
Ganirelix Approved Phase 4,Phase 3 123246-29-7, 124904-93-4 25081094
22
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
23
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
24
Dalteparin Approved Phase 4 9041-08-1
25
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
26
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
27
Celiprolol Approved, Investigational Phase 4 56980-93-9
28
Mitoxantrone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 65271-80-9 4212
29
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
30
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
31
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
32
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
33
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
34
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
35
Liraglutide Approved Phase 4,Phase 3 204656-20-2
36
Teniposide Approved Phase 4 29767-20-2 34698
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
38
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
39
Doxil Approved June 1999 Phase 4,Phase 3,Phase 2,Phase 1 31703
40
Pirarubicin Investigational Phase 4 72496-41-4
41
Butyric Acid Experimental Phase 4,Phase 3,Phase 2 107-92-6 264
42 Fertility Agents Phase 4,Phase 3
43 Follicle Stimulating Hormone Phase 4
44 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
45 Hormones Phase 4,Phase 3,Phase 2,Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
47 Progestins Phase 4,Phase 3
48 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
50 BB 1101 Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 1116)
id Name Status NCT ID Phase
1 Assessment of Implantation Potential of Embryos by Time-lapse Technology Unknown status NCT01760278 Phase 4
2 Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia Unknown status NCT01990807 Phase 4
3 Compliance: Role Emerges for Success in Chronic Myelogenous Leukaemia (CML): Evaluation aND Optimisation Unknown status NCT01243489 Phase 4
4 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
5 Treatment of Infertility by Collagen Scaffold Loaded With Autologous Bone Marrow Stem Cells Unknown status NCT02204358 Phase 4
6 Efficacy Study of PAD and TAD in Newly Diagnosed Multiple Myeloma Unknown status NCT01249690 Phase 4
7 Impact of Raltegravir on the Viral Reservoirs Unknown status NCT01249560 Phase 4
8 Embryo Aneuploidies and Ovarian Stimulation Completed NCT00707525 Phase 4
9 Near Infrared Spectroscopy (NIRS) and Superior Mesenteric Artery (SMA) Doppler Patterns as Predictor of Feeding Tolerance in Very Low Birth Weight (VLBW) IntraUterine Growth Restricted (IUGR) and NON IUGR Infants Completed NCT01341236 Phase 4
10 Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies Completed NCT01608347 Phase 4
11 Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase Completed NCT01061177 Phase 4
12 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4
13 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4
14 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
15 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
16 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
17 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
18 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
19 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4
20 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4
21 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
22 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
23 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
24 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4
25 Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia (CML) Completed NCT00171899 Phase 4
26 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
27 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 Phase 4
28 LAL-Ph-2000: Treatment of Acute Lymphoblastic Leukemia Chromosome Philadelphia Positive Completed NCT00526305 Phase 4
29 Study of Molecular Response in Adult Patients on Nilotinib With Philadelphia Chromosome Positive Chronic Myelogenous Leukemia (Ph+ CML) in Chronic Phase and a Suboptimal Molecular Response to Imatinib Completed NCT00644878 Phase 4
30 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
31 Linkage Consortium for End-Stage Renal Disease Completed NCT00301249 Phase 4
32 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
33 Sequential vs. Monophasic Media Impact Trial (SuMMIT) Completed NCT01917240 Phase 4
34 CMR Rate of Newly Diagnosed CML-CP Patients Treated With Nilotinib Completed NCT01227577 Phase 4
35 An Exploratory Trial to Assess the Improvement of Adverse Events in Chronic Myelogenous Leukemia Patients Treated With Imatinib When Switched to Nilotinib Treatment Completed NCT00980018 Phase 4
36 Tasigna in Glivec-resistant or Intolerant Patients in CML Completed NCT01206088 Phase 4
37 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4
38 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Recruiting NCT02408445 Phase 4
39 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4
40 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
41 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
42 Safety And Efficacy Study Of Bosutinib In Patients With Philadelphia Chromosome Positive Chronic Myeloid Leukemia Previously Treated With One Or More Tyrosine Kinase Inhibitors Recruiting NCT02228382 Phase 4
43 Chemotherapy and Imatinib in Young Adults With Acute Lymphoblastic Leukemia Ph (BCR-ABL) POSITIVE Recruiting NCT01491763 Phase 4
44 Study Assessing Deep Molecular Response in Adult Patients With CML in Chronic Phase Treated With Nilotinib Firstline. Recruiting NCT02546674 Phase 4
45 Treatment of High Risk Adult Acute Lymphoblastic Leukemia Active, not recruiting NCT00853008 Phase 4
46 Multicenter, PhaseⅣ, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib Not yet recruiting NCT02389920 Phase 4
47 Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age Suspended NCT00646893 Phase 4
48 Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib Terminated NCT00461929 Phase 4
49 LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML) Terminated NCT01198054 Phase 4
50 A Study of the Effects of a Novel Ovarian Stimulation Regimen on Embryo Aneuploidy Rates in In Vitro Fertilization (IVF) Terminated NCT00866008 Phase 4

Search NIH Clinical Center for Mosaic Variegated Aneuploidy Syndrome 1

Cochrane evidence based reviews: chromosome disorders

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome 1

Genetic tests related to Mosaic Variegated Aneuploidy Syndrome 1:

id Genetic test Affiliating Genes
1 Mosaic Variegated Aneuploidy Syndrome 1 24 BUB1B

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome 1

MalaCards organs/tissues related to Mosaic Variegated Aneuploidy Syndrome 1:

39
Eye

Publications for Mosaic Variegated Aneuploidy Syndrome 1

Variations for Mosaic Variegated Aneuploidy Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 1:

66
id Symbol AA change Variation ID SNP ID
1 BUB1B p.Arg550Gln VAR_028923 rs28989187
2 BUB1B p.Arg814His VAR_028924 rs28989182
3 BUB1B p.Leu844Phe VAR_028925 rs28989181
4 BUB1B p.Ile909Thr VAR_028926 rs28989184
5 BUB1B p.Gln921His VAR_028927 rs28989183
6 BUB1B p.Leu1012Pro VAR_028928 rs28989185

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome 1:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 BUB1B NM_001211.5(BUB1B): c.580C> T (p.Arg194Ter) single nucleotide variant Pathogenic rs28989186 GRCh37 Chromosome 15, 40468873: 40468873
2 BUB1B NM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe) single nucleotide variant Pathogenic rs28989181 GRCh37 Chromosome 15, 40504844: 40504844
3 BUB1B NM_001211.5(BUB1B): c.2763G> C (p.Gln921His) single nucleotide variant Pathogenic rs28989183 GRCh37 Chromosome 15, 40509781: 40509781
4 BUB1B BUB1B, 4-BP INS, 2211GTTA insertion Pathogenic
5 BUB1B NM_001211.5(BUB1B): c.2441G> A (p.Arg814His) single nucleotide variant Pathogenic rs28989182 GRCh37 Chromosome 15, 40504755: 40504755
6 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh37 Chromosome 15, 40512842: 40512842
7 BUB1B BUB1B, IVS10, G-T, -1 single nucleotide variant Pathogenic
8 BUB1B BUB1B, 1-BP DEL, 1833T deletion Pathogenic
9 BUB1B BUB1B, IVS10AS, A-G, -5 single nucleotide variant Pathogenic
10 BUB1B BUB1B, IVS18AS, A-G, -11 single nucleotide variant Pathogenic
11 BUB1B NM_001211.5(BUB1B): c.2308C> T (p.Arg770Ter) single nucleotide variant Pathogenic rs750364303 GRCh38 Chromosome 15, 40210133: 40210133

Expression for Mosaic Variegated Aneuploidy Syndrome 1

Search GEO for disease gene expression data for Mosaic Variegated Aneuploidy Syndrome 1.

Pathways for Mosaic Variegated Aneuploidy Syndrome 1

GO Terms for Mosaic Variegated Aneuploidy Syndrome 1

Sources for Mosaic Variegated Aneuploidy Syndrome 1

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