MCID: MSC022
MIFTS: 45

Mosaic Variegated Aneuploidy Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Mosaic Variegated Aneuploidy Syndrome

MalaCards integrated aliases for Mosaic Variegated Aneuploidy Syndrome:

Name: Mosaic Variegated Aneuploidy Syndrome 53 25 59 6 73
Warburton-Anyane-Yeboa Syndrome 53 25 59
Mva Syndrome 53 25
Mosaic Variegated Aneuplody Microcephaly Syndrome 25
Mosaic Variegated Aneuploidy Syndrome 37
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 Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and lung, and related phenotypes are multicystic kidney dysplasia and ambiguous genitalia

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 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
2 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
3 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
5 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
6 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
7 sloping forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000340
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
12 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
13 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
14 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
15 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
16 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
17 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
18 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
19 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
20 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
21 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
22 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
23 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
24 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
25 dandy-walker malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001305
26 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
27 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
28 ascites 59 32 hallmark (90%) Very frequent (99-80%) HP:0001541
29 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
30 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
31 aortic regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001659
32 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
33 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
34 abnormal lung lobation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002101
35 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
36 duodenal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002247
37 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
38 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
39 rhabdomyosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002859
40 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
41 colon cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0003003
42 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
43 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
44 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
45 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
46 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
47 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
48 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
49 increased nuchal translucency 59 32 hallmark (90%) Very frequent (99-80%) HP:0010880
50 abnormality of immune system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0010978

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 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, Lung, Skin, Kidney, Colon, Heart

Publications for Mosaic Variegated Aneuploidy Syndrome

Articles related to Mosaic Variegated Aneuploidy Syndrome:

# Title Authors Year
1
Polycystic ovary syndrome: A new phenotype in mosaic variegated aneuploidy syndrome? ( 27931980 )
2016
2
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. ( 24259107 )
2014
3
Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome. ( 23916859 )
2013
4
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. ( 21552266 )
2011
5
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. ( 16182441 )
2006
6
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. ( 16059936 )
2005
7
High risk of malignancy in mosaic variegated aneuploidy syndrome. ( 12567425 )
2003
8
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 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 BUB1B NM_001211.5(BUB1B): c.1046A> G (p.Gln349Arg) single nucleotide variant Benign rs1801376 GRCh38 Chromosome 15, 40185630: 40185630
2 BUB1B NM_001211.5(BUB1B): c.1046A> G (p.Gln349Arg) single nucleotide variant Benign rs1801376 GRCh37 Chromosome 15, 40477831: 40477831
3 BUB1B NM_001211.5(BUB1B): c.2856C> T (p.Asp952=) single nucleotide variant Benign rs1802286 GRCh38 Chromosome 15, 40218461: 40218461
4 BUB1B NM_001211.5(BUB1B): c.2856C> T (p.Asp952=) single nucleotide variant Benign rs1802286 GRCh37 Chromosome 15, 40510662: 40510662
5 BUB1B NM_001211.5(BUB1B): c.2385+4G> C single nucleotide variant Uncertain significance rs202108787 GRCh37 Chromosome 15, 40502415: 40502415
6 BUB1B NM_001211.5(BUB1B): c.2385+4G> C single nucleotide variant Uncertain significance rs202108787 GRCh38 Chromosome 15, 40210214: 40210214
7 BUB1B NM_001211.5(BUB1B): c.348T> C (p.Tyr116=) single nucleotide variant Benign/Likely benign rs28989189 GRCh37 Chromosome 15, 40462846: 40462846
8 BUB1B NM_001211.5(BUB1B): c.348T> C (p.Tyr116=) single nucleotide variant Benign/Likely benign rs28989189 GRCh38 Chromosome 15, 40170645: 40170645
9 BUB1B NM_001211.5(BUB1B): c.1630C> T (p.Pro544Ser) single nucleotide variant Uncertain significance rs138332995 GRCh37 Chromosome 15, 40494791: 40494791
10 BUB1B NM_001211.5(BUB1B): c.1630C> T (p.Pro544Ser) single nucleotide variant Uncertain significance rs138332995 GRCh38 Chromosome 15, 40202590: 40202590
11 BUB1B NM_001211.5(BUB1B): c.9G> T (p.Ala3=) single nucleotide variant Benign rs7168394 GRCh37 Chromosome 15, 40453430: 40453430
12 BUB1B NM_001211.5(BUB1B): c.9G> T (p.Ala3=) single nucleotide variant Benign rs7168394 GRCh38 Chromosome 15, 40161229: 40161229
13 BUB1B NM_001211.5(BUB1B): c.1623T> C (p.Asn541=) single nucleotide variant Benign rs1129352 GRCh37 Chromosome 15, 40494661: 40494661
14 BUB1B NM_001211.5(BUB1B): c.1623T> C (p.Asn541=) single nucleotide variant Benign rs1129352 GRCh38 Chromosome 15, 40202460: 40202460
15 BUB1B NM_001211.5(BUB1B): c.2523C> T (p.Cys841=) single nucleotide variant Benign rs34999621 GRCh38 Chromosome 15, 40212636: 40212636
16 BUB1B NM_001211.5(BUB1B): c.2523C> T (p.Cys841=) single nucleotide variant Benign rs34999621 GRCh37 Chromosome 15, 40504837: 40504837
17 BUB1B NM_001211.5(BUB1B): c.3099A> G (p.Lys1033=) single nucleotide variant Benign rs35611758 GRCh38 Chromosome 15, 40220705: 40220705
18 BUB1B NM_001211.5(BUB1B): c.3099A> G (p.Lys1033=) single nucleotide variant Benign rs35611758 GRCh37 Chromosome 15, 40512906: 40512906
19 BUB1B NM_001211.5(BUB1B): c.772C> T (p.Leu258Phe) single nucleotide variant Likely benign rs146387899 GRCh37 Chromosome 15, 40477386: 40477386
20 BUB1B NM_001211.5(BUB1B): c.772C> T (p.Leu258Phe) single nucleotide variant Likely benign rs146387899 GRCh38 Chromosome 15, 40185185: 40185185
21 BUB1B NM_001211.5(BUB1B): c.1628+9T> C single nucleotide variant Likely benign rs112600564 GRCh37 Chromosome 15, 40494675: 40494675
22 BUB1B NM_001211.5(BUB1B): c.1628+9T> C single nucleotide variant Likely benign rs112600564 GRCh38 Chromosome 15, 40202474: 40202474
23 BUB1B NM_001211.5(BUB1B): c.3094A> C (p.Asn1032His) single nucleotide variant Uncertain significance rs34700927 GRCh37 Chromosome 15, 40512901: 40512901
24 BUB1B NM_001211.5(BUB1B): c.3094A> C (p.Asn1032His) single nucleotide variant Uncertain significance rs34700927 GRCh38 Chromosome 15, 40220700: 40220700
25 BUB1B NM_001211.5(BUB1B): c.391T> G (p.Leu131Val) single nucleotide variant Uncertain significance rs946027171 GRCh38 Chromosome 15, 40176483: 40176483
26 BUB1B NM_001211.5(BUB1B): c.391T> G (p.Leu131Val) single nucleotide variant Uncertain significance rs946027171 GRCh37 Chromosome 15, 40468684: 40468684
27 BUB1B NM_001211.5(BUB1B): c.1230C> T (p.Phe410=) single nucleotide variant Benign rs61733369 GRCh38 Chromosome 15, 40196716: 40196716
28 BUB1B NM_001211.5(BUB1B): c.1230C> T (p.Phe410=) single nucleotide variant Benign rs61733369 GRCh37 Chromosome 15, 40488917: 40488917
29 BUB1B NM_001211.5(BUB1B): c.1382A> C (p.Gln461Pro) single nucleotide variant Uncertain significance rs747886467 GRCh38 Chromosome 15, 40199708: 40199708
30 BUB1B NM_001211.5(BUB1B): c.1382A> C (p.Gln461Pro) single nucleotide variant Uncertain significance rs747886467 GRCh37 Chromosome 15, 40491909: 40491909
31 BUB1B NM_001211.5(BUB1B): c.2351C> T (p.Ala784Val) single nucleotide variant Uncertain significance rs142705245 GRCh38 Chromosome 15, 40210176: 40210176
32 BUB1B NM_001211.5(BUB1B): c.2351C> T (p.Ala784Val) single nucleotide variant Uncertain significance rs142705245 GRCh37 Chromosome 15, 40502377: 40502377
33 BUB1B NM_001211.5(BUB1B): c.180-3C> T single nucleotide variant Benign rs200483866 GRCh38 Chromosome 15, 40170059: 40170059
34 BUB1B NM_001211.5(BUB1B): c.180-3C> T single nucleotide variant Benign rs200483866 GRCh37 Chromosome 15, 40462260: 40462260
35 CEP57 NM_001243776.1(CEP57): c.697delA (p.Arg233Aspfs) deletion Pathogenic GRCh37 Chromosome 11, 95555059: 95555059
36 CEP57 NM_001243776.1(CEP57): c.697delA (p.Arg233Aspfs) deletion Pathogenic GRCh38 Chromosome 11, 95821895: 95821895
37 BUB1B NM_001211.5(BUB1B): c.242A> G (p.Tyr81Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 40462740: 40462740
38 BUB1B NM_001211.5(BUB1B): c.242A> G (p.Tyr81Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 40170539: 40170539
39 BUB1B NM_001211.5(BUB1B): c.1289-8G> A single nucleotide variant Likely benign rs375564551 GRCh38 Chromosome 15, 40199607: 40199607
40 BUB1B NM_001211.5(BUB1B): c.1289-8G> A single nucleotide variant Likely benign rs375564551 GRCh37 Chromosome 15, 40491808: 40491808
41 BUB1B NM_001211.5(BUB1B): c.1875A> G (p.Ile625Met) single nucleotide variant Uncertain significance rs541881263 GRCh37 Chromosome 15, 40498525: 40498525
42 BUB1B NM_001211.5(BUB1B): c.1875A> G (p.Ile625Met) single nucleotide variant Uncertain significance rs541881263 GRCh38 Chromosome 15, 40206324: 40206324
43 BUB1B NM_001211.5(BUB1B): c.2179C> T (p.Arg727Cys) single nucleotide variant Uncertain significance rs577591919 GRCh37 Chromosome 15, 40501871: 40501871
44 BUB1B NM_001211.5(BUB1B): c.2179C> T (p.Arg727Cys) single nucleotide variant Uncertain significance rs577591919 GRCh38 Chromosome 15, 40209670: 40209670
45 BUB1B NM_001211.5(BUB1B): c.2256G> A (p.Lys752=) single nucleotide variant Likely benign GRCh37 Chromosome 15, 40501948: 40501948
46 BUB1B NM_001211.5(BUB1B): c.2256G> A (p.Lys752=) single nucleotide variant Likely benign GRCh38 Chromosome 15, 40209747: 40209747
47 BUB1B NM_001211.5(BUB1B): c.2337G> A (p.Lys779=) single nucleotide variant Likely benign GRCh38 Chromosome 15, 40210162: 40210162
48 BUB1B NM_001211.5(BUB1B): c.2337G> A (p.Lys779=) single nucleotide variant Likely benign GRCh37 Chromosome 15, 40502363: 40502363
49 BUB1B NM_001211.5(BUB1B): c.2513A> G (p.Tyr838Cys) single nucleotide variant Uncertain significance rs753916523 GRCh38 Chromosome 15, 40212626: 40212626
50 BUB1B NM_001211.5(BUB1B): c.2513A> G (p.Tyr838Cys) single nucleotide variant Uncertain significance rs753916523 GRCh37 Chromosome 15, 40504827: 40504827

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 BUB1 BUB1B BUB3
2
Show member pathways
11.97 BUB1 BUB1B BUB3
3 11.49 BUB1 BUB1B BUB3
4
Show member pathways
10.87 BUB1 BUB1B
5 10.53 BUB1 BUB1B BUB3

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 chromosome GO:0005694 9.5 BUB1 BUB1B BUB3
2 kinetochore GO:0000776 9.43 BUB1 BUB1B BUB3
3 chromosome, centromeric region GO:0000775 9.33 BUB1 BUB1B BUB3
4 condensed chromosome kinetochore GO:0000777 9.13 BUB1 BUB1B BUB3
5 condensed nuclear chromosome kinetochore GO:0000778 8.62 BUB1 BUB1B

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.58 BUB1 BUB1B BUB3
2 chromosome segregation GO:0007059 9.51 BUB1 BUB3
3 spermatid development GO:0007286 9.49 CEP57 TRIP13
4 anaphase-promoting complex-dependent catabolic process GO:0031145 9.48 BUB1B BUB3
5 obsolete positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition GO:0051437 9.46 BUB1B BUB3
6 obsolete negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle GO:0051436 9.43 BUB1B BUB3
7 mitotic cell cycle checkpoint GO:0007093 9.37 BUB1 BUB1B
8 sister chromatid cohesion GO:0007062 9.33 BUB1 BUB1B BUB3
9 mitotic sister chromatid segregation GO:0000070 9.32 BUB3 CEP57
10 regulation of chromosome segregation GO:0051983 9.26 BUB1 BUB3
11 mitotic spindle assembly checkpoint GO:0007094 9.02 BUB1 BUB1B BUB1B-PAK6 BUB3 TRIP13
12 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 serine/threonine kinase activity GO:0004674 8.8 BUB1 BUB1B BUB1B-PAK6

Sources for Mosaic Variegated Aneuploidy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....