MCID: MSC022
MIFTS: 43

Mosaic Variegated Aneuploidy Syndrome

Categories: Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome:

Name: Mosaic Variegated Aneuploidy Syndrome 53 25 59 37 6 73
Warburton-Anyane-Yeboa Syndrome 53 25 59
Mva Syndrome 53 25
Mosaic Variegated Aneuplody Microcephaly Syndrome 25
Warburton Anyane Yeboa Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
mosaic variegated aneuploidy syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



Summaries for Mosaic Variegated Aneuploidy Syndrome

NIH Rare Diseases : 53 Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described  in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma, Wilm's tumor, and leukemia reported in several cases.  MVA syndrome is an autosomal recessive condition. It can be caused by changes (mutations) in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function. The CEP57 gene is involved in microtubule stabilization. Both play a role in the process of cell division. Treatment depends on the symptoms present in each person, but may include growth hormone therapy. Individuals with a BUB1B mutations should also be offered cancer screening.

MalaCards based summary : Mosaic Variegated Aneuploidy Syndrome, also known as warburton-anyane-yeboa syndrome, is related to mosaic variegated aneuploidy syndrome 2 and mosaic variegated aneuploidy syndrome 1, and has symptoms including myoclonic seizures An important gene associated with Mosaic Variegated Aneuploidy Syndrome is CEP57 (Centrosomal Protein 57), and among its related pathways/superpathways are Cell cycle and Mitotic Metaphase and Anaphase. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney, and related phenotypes are frontal bossing and hypothyroidism

Genetics Home Reference : 25 Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.

Related Diseases for Mosaic Variegated Aneuploidy Syndrome

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



Diseases related to Mosaic Variegated Aneuploidy Syndrome

Symptoms & Phenotypes for Mosaic Variegated Aneuploidy Syndrome

Human phenotypes related to Mosaic Variegated Aneuploidy Syndrome:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
10 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
13 ascites 59 32 hallmark (90%) Very frequent (99-80%) HP:0001541
14 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
15 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
16 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
17 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
18 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
19 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
20 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
21 abnormality of immune system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0010978
22 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
23 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
24 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
25 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
26 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
27 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
28 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
29 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
30 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
31 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
32 colon cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0003003
33 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
34 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
35 increased nuchal translucency 59 32 hallmark (90%) Very frequent (99-80%) HP:0010880
36 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
37 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
38 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
39 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
40 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
41 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
42 stomach cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0012126
43 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
44 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
45 sloping forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000340
46 dandy-walker malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001305
47 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
48 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
49 rhabdomyosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002859
50 abnormal lung lobation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002101

UMLS symptoms related to Mosaic Variegated Aneuploidy Syndrome:


myoclonic seizures

GenomeRNAi Phenotypes related to Mosaic Variegated Aneuploidy Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Effect on mitosis GR00257-A-2 8.92 BUB1 BUB1B BUB3 FAM76B

Drugs & Therapeutics for Mosaic Variegated Aneuploidy Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1
2 Immunologic Factors Phase 1
3 Antioxidants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Study With MVA BN and Dryvax Completed NCT00082446 Phase 1
2 Role of Cytochrome P450 2D6 (CYP2D6) *4 Polymorphism,in Malignant Breast Diseases Completed NCT00539422

Search NIH Clinical Center for Mosaic Variegated Aneuploidy Syndrome

Genetic Tests for Mosaic Variegated Aneuploidy Syndrome

Anatomical Context for Mosaic Variegated Aneuploidy Syndrome

MalaCards organs/tissues related to Mosaic Variegated Aneuploidy Syndrome:

41
Eye, Brain, Kidney, Colon, Heart, Cerebellum, Ovary

Publications for Mosaic Variegated Aneuploidy Syndrome

Articles related to Mosaic Variegated Aneuploidy Syndrome:

(show all 11)
# Title Authors Year
1
A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax. ( 30010053 )
2018
2
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. ( 30035751 )
2018
3
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing. ( 30147898 )
2018
4
Polycystic ovary syndrome: A new phenotype in mosaic variegated aneuploidy syndrome? ( 27931980 )
2016
5
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. ( 24259107 )
2014
6
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome. ( 23916859 )
2013
7
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. ( 21552266 )
2011
8
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. ( 16182441 )
2006
9
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. ( 16059936 )
2005
10
High risk of malignancy in mosaic variegated aneuploidy syndrome. ( 12567425 )
2003
11
High risk of malignancy in mosaic variegated aneuploidy syndrome. ( 11932988 )
2002

Variations for Mosaic Variegated Aneuploidy Syndrome

ClinVar genetic disease variations for Mosaic Variegated Aneuploidy Syndrome:

6 (show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 BUB1B NM_001211.5(BUB1B): c.119C> T (p.Thr40Met) single nucleotide variant Benign rs56079734 GRCh37 Chromosome 15, 40457337: 40457337
2 BUB1B NM_001211.5(BUB1B): c.119C> T (p.Thr40Met) single nucleotide variant Benign rs56079734 GRCh38 Chromosome 15, 40165136: 40165136
3 BUB1B NM_001211.5(BUB1B): c.2763G> C (p.Gln921His) single nucleotide variant Uncertain significance rs28989183 GRCh37 Chromosome 15, 40509781: 40509781
4 BUB1B NM_001211.5(BUB1B): c.2763G> C (p.Gln921His) single nucleotide variant Uncertain significance rs28989183 GRCh38 Chromosome 15, 40217580: 40217580
5 BUB1B NM_001211.5(BUB1B): c.2441G> A (p.Arg814His) single nucleotide variant Uncertain significance rs28989182 GRCh37 Chromosome 15, 40504755: 40504755
6 BUB1B NM_001211.5(BUB1B): c.2441G> A (p.Arg814His) single nucleotide variant Uncertain significance rs28989182 GRCh38 Chromosome 15, 40212554: 40212554
7 BUB1B NM_001211.5(BUB1B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign rs28989187 GRCh37 Chromosome 15, 40494810: 40494810
8 BUB1B NM_001211.5(BUB1B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign rs28989187 GRCh38 Chromosome 15, 40202609: 40202609
9 BUB1B NM_001211.5(BUB1B): c.10G> A (p.Val4Met) single nucleotide variant Likely benign rs147549987 GRCh37 Chromosome 15, 40453431: 40453431
10 BUB1B NM_001211.5(BUB1B): c.10G> A (p.Val4Met) single nucleotide variant Likely benign rs147549987 GRCh38 Chromosome 15, 40161230: 40161230
11 BUB1B NM_001211.5(BUB1B): c.1478C> T (p.Thr493Ile) single nucleotide variant Uncertain significance rs146795655 GRCh37 Chromosome 15, 40492521: 40492521
12 BUB1B NM_001211.5(BUB1B): c.1478C> T (p.Thr493Ile) single nucleotide variant Uncertain significance rs146795655 GRCh38 Chromosome 15, 40200320: 40200320
13 BUB1B NM_001211.5(BUB1B): c.1853T> C (p.Val618Ala) single nucleotide variant Benign rs1801528 GRCh37 Chromosome 15, 40498503: 40498503
14 BUB1B NM_001211.5(BUB1B): c.1853T> C (p.Val618Ala) single nucleotide variant Benign rs1801528 GRCh38 Chromosome 15, 40206302: 40206302
15 BUB1B NM_001211.5(BUB1B): c.3011A> G (p.Asn1004Ser) single nucleotide variant Benign rs34998711 GRCh37 Chromosome 15, 40512818: 40512818
16 BUB1B NM_001211.5(BUB1B): c.3011A> G (p.Asn1004Ser) single nucleotide variant Benign rs34998711 GRCh38 Chromosome 15, 40220617: 40220617
17 BUB1B NM_001211.5(BUB1B): c.805A> G (p.Asn269Asp) single nucleotide variant Uncertain significance rs148159407 GRCh37 Chromosome 15, 40477419: 40477419
18 BUB1B NM_001211.5(BUB1B): c.805A> G (p.Asn269Asp) single nucleotide variant Uncertain significance rs148159407 GRCh38 Chromosome 15, 40185218: 40185218
19 BUB1B NM_001211.5(BUB1B): c.1001C> T (p.Pro334Leu) single nucleotide variant Uncertain significance rs141953425 GRCh37 Chromosome 15, 40477786: 40477786
20 BUB1B NM_001211.5(BUB1B): c.1001C> T (p.Pro334Leu) single nucleotide variant Uncertain significance rs141953425 GRCh38 Chromosome 15, 40185585: 40185585
21 BUB1B NM_001211.5(BUB1B): c.1170G> C (p.Glu390Asp) single nucleotide variant Benign rs1017842 GRCh37 Chromosome 15, 40488857: 40488857
22 BUB1B NM_001211.5(BUB1B): c.1170G> C (p.Glu390Asp) single nucleotide variant Benign rs1017842 GRCh38 Chromosome 15, 40196656: 40196656
23 BUB1B NM_001211.5(BUB1B): c.1046A> G (p.Gln349Arg) single nucleotide variant Benign rs1801376 GRCh38 Chromosome 15, 40185630: 40185630
24 BUB1B NM_001211.5(BUB1B): c.1046A> G (p.Gln349Arg) single nucleotide variant Benign rs1801376 GRCh37 Chromosome 15, 40477831: 40477831
25 BUB1B NM_001211.5(BUB1B): c.2856C> T (p.Asp952=) single nucleotide variant Benign rs1802286 GRCh38 Chromosome 15, 40218461: 40218461
26 BUB1B NM_001211.5(BUB1B): c.2856C> T (p.Asp952=) single nucleotide variant Benign rs1802286 GRCh37 Chromosome 15, 40510662: 40510662
27 BUB1B NM_001211.5(BUB1B): c.348T> C (p.Tyr116=) single nucleotide variant Benign/Likely benign rs28989189 GRCh37 Chromosome 15, 40462846: 40462846
28 BUB1B NM_001211.5(BUB1B): c.348T> C (p.Tyr116=) single nucleotide variant Benign/Likely benign rs28989189 GRCh38 Chromosome 15, 40170645: 40170645
29 BUB1B NM_001211.5(BUB1B): c.1630C> T (p.Pro544Ser) single nucleotide variant Uncertain significance rs138332995 GRCh37 Chromosome 15, 40494791: 40494791
30 BUB1B NM_001211.5(BUB1B): c.1630C> T (p.Pro544Ser) single nucleotide variant Uncertain significance rs138332995 GRCh38 Chromosome 15, 40202590: 40202590
31 BUB1B NM_001211.5(BUB1B): c.2385+4G> C single nucleotide variant Uncertain significance rs202108787 GRCh37 Chromosome 15, 40502415: 40502415
32 BUB1B NM_001211.5(BUB1B): c.2385+4G> C single nucleotide variant Uncertain significance rs202108787 GRCh38 Chromosome 15, 40210214: 40210214
33 BUB1B NM_001211.5(BUB1B): c.9G> T (p.Ala3=) single nucleotide variant Benign rs7168394 GRCh37 Chromosome 15, 40453430: 40453430
34 BUB1B NM_001211.5(BUB1B): c.9G> T (p.Ala3=) single nucleotide variant Benign rs7168394 GRCh38 Chromosome 15, 40161229: 40161229
35 BUB1B NM_001211.5(BUB1B): c.1623T> C (p.Asn541=) single nucleotide variant Benign rs1129352 GRCh37 Chromosome 15, 40494661: 40494661
36 BUB1B NM_001211.5(BUB1B): c.1623T> C (p.Asn541=) single nucleotide variant Benign rs1129352 GRCh38 Chromosome 15, 40202460: 40202460
37 BUB1B NM_001211.5(BUB1B): c.2523C> T (p.Cys841=) single nucleotide variant Benign rs34999621 GRCh38 Chromosome 15, 40212636: 40212636
38 BUB1B NM_001211.5(BUB1B): c.2523C> T (p.Cys841=) single nucleotide variant Benign rs34999621 GRCh37 Chromosome 15, 40504837: 40504837
39 BUB1B NM_001211.5(BUB1B): c.3099A> G (p.Lys1033=) single nucleotide variant Benign rs35611758 GRCh38 Chromosome 15, 40220705: 40220705
40 BUB1B NM_001211.5(BUB1B): c.3099A> G (p.Lys1033=) single nucleotide variant Benign rs35611758 GRCh37 Chromosome 15, 40512906: 40512906
41 BUB1B NM_001211.5(BUB1B): c.772C> T (p.Leu258Phe) single nucleotide variant Likely benign rs146387899 GRCh37 Chromosome 15, 40477386: 40477386
42 BUB1B NM_001211.5(BUB1B): c.772C> T (p.Leu258Phe) single nucleotide variant Likely benign rs146387899 GRCh38 Chromosome 15, 40185185: 40185185
43 BUB1B NM_001211.5(BUB1B): c.1171_1173delGAG (p.Glu391del) deletion Uncertain significance rs1060499943 GRCh37 Chromosome 15, 40488858: 40488860
44 BUB1B NM_001211.5(BUB1B): c.1171_1173delGAG (p.Glu391del) deletion Uncertain significance rs1060499943 GRCh38 Chromosome 15, 40196657: 40196659
45 BUB1B NM_001211.5(BUB1B): c.1628+9T> C single nucleotide variant Likely benign rs112600564 GRCh37 Chromosome 15, 40494675: 40494675
46 BUB1B NM_001211.5(BUB1B): c.1628+9T> C single nucleotide variant Likely benign rs112600564 GRCh38 Chromosome 15, 40202474: 40202474
47 BUB1B NM_001211.5(BUB1B): c.3094A> C (p.Asn1032His) single nucleotide variant Uncertain significance rs34700927 GRCh37 Chromosome 15, 40512901: 40512901
48 BUB1B NM_001211.5(BUB1B): c.3094A> C (p.Asn1032His) single nucleotide variant Uncertain significance rs34700927 GRCh38 Chromosome 15, 40220700: 40220700
49 BUB1B NM_001211.5(BUB1B): c.391T> G (p.Leu131Val) single nucleotide variant Uncertain significance rs946027171 GRCh38 Chromosome 15, 40176483: 40176483
50 BUB1B NM_001211.5(BUB1B): c.391T> G (p.Leu131Val) single nucleotide variant Uncertain significance rs946027171 GRCh37 Chromosome 15, 40468684: 40468684

Expression for Mosaic Variegated Aneuploidy Syndrome

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

Pathways for Mosaic Variegated Aneuploidy Syndrome

Pathways related to Mosaic Variegated Aneuploidy Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Cell cycle hsa04110

GO Terms for Mosaic Variegated Aneuploidy Syndrome

Cellular components related to Mosaic Variegated Aneuploidy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 BUB1 BUB1B BUB1B-PAK6 BUB3 CEP57 FAM76B
2 chromosome GO:0005694 9.62 BUB1 BUB1B BUB3 TRIP13
3 kinetochore GO:0000776 9.43 BUB1 BUB1B BUB3
4 chromosome, centromeric region GO:0000775 9.33 BUB1 BUB1B BUB3
5 condensed nuclear chromosome kinetochore GO:0000778 8.96 BUB1 BUB1B
6 condensed chromosome kinetochore GO:0000777 8.8 BUB1 BUB1B BUB3

Biological processes related to Mosaic Variegated Aneuploidy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.54 BUB1 BUB1B BUB3
2 spermatid development GO:0007286 9.43 CEP57 TRIP13
3 chromosome segregation GO:0007059 9.4 BUB1 BUB3
4 anaphase-promoting complex-dependent catabolic process GO:0031145 9.32 BUB1B BUB3
5 mitotic cell cycle checkpoint GO:0007093 9.26 BUB1 BUB1B
6 regulation of chromosome segregation GO:0051983 9.16 BUB1 BUB3
7 mitotic spindle assembly checkpoint GO:0007094 9.02 BUB1 BUB1B BUB1B-PAK6 BUB3 TRIP13
8 meiotic sister chromatid cohesion, centromeric GO:0051754 8.96 BUB1 BUB1B

Molecular functions related to Mosaic Variegated Aneuploidy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.13 BUB1 BUB1B BUB1B-PAK6
2 protein serine/threonine kinase activity GO:0004674 8.8 BUB1 BUB1B BUB1B-PAK6

Sources for Mosaic Variegated Aneuploidy Syndrome

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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