CMS20
MCID: MYS068
MIFTS: 41

Myasthenic Syndrome, Congenital, 20, Presynaptic (CMS20)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 20, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 20, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 20, Presynaptic 56 73 29 6
Cms20 56 12 73
Congenital Myasthenic Syndrome 20 12 15
Myasthenic Syndrome, Congenital, Type 20, Presynaptic 39
Congenital Myasthenic Syndrome 20 Presynaptic 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
death in infancy may occur
onset at birth or in utero
fluctuating disease course
favorable response to ache inhibitors


HPO:

31
myasthenic syndrome, congenital, 20, presynaptic:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 20, Presynaptic

OMIM : 56 Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (617143)

MalaCards based summary : Myasthenic Syndrome, Congenital, 20, Presynaptic, also known as cms20, is related to properdin deficiency, x-linked and ventricular tachycardia, catecholaminergic polymorphic, 3. An important gene associated with Myasthenic Syndrome, Congenital, 20, Presynaptic is SLC5A7 (Solute Carrier Family 5 Member 7), and among its related pathways/superpathways are Cardiac conduction and Cardiac Progenitor Differentiation. Related phenotypes are cognitive impairment and polyhydramnios

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has material basis in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 20, presynaptic: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS20 is an autosomal recessive, pre-synaptic form characterized by severe hypotonia and episodic apnea soon after birth, generalized limb fatigability and weakness, delayed walking, ptosis, poor sucking and swallowing.

Related Diseases for Myasthenic Syndrome, Congenital, 20, Presynaptic

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic
Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic
Myasthenic Syndrome, Congenital, 23, Presynaptic Myasthenic Syndrome, Congenital, 24, Presynaptic
Myasthenic Syndrome, Congenital, 25, Presynaptic

Diseases related to Myasthenic Syndrome, Congenital, 20, Presynaptic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 properdin deficiency, x-linked 10.2 MESP1 CD2AP
2 ventricular tachycardia, catecholaminergic polymorphic, 3 10.2 KCNJ2 CD2AP
3 long qt syndrome 15 10.1 KCNJ2 CD2AP
4 timothy syndrome 10.1 KCNJ2 CD2AP
5 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 KCNJ2 CD2AP
6 myasthenic syndrome, congenital, 5 10.0 KCNJ2 CD2AP
7 long qt syndrome 2 10.0 KCNJ2 CD2AP
8 familial isolated restrictive cardiomyopathy 9.9 TNNT2 MYL2
9 noonan syndrome with multiple lentigines 9.8 TNNT2 CD2AP
10 congenital myasthenic syndrome 9.8 SLC5A7 KCNJ2 CD2AP
11 congenital fiber-type disproportion 9.8 TNNI1 MYL2 CD2AP
12 cardiomyopathy, dilated, 1m 9.8 TCAP MYL2
13 catecholaminergic polymorphic ventricular tachycardia 9.8 TNNT2 KCNJ2 CD2AP
14 long qt syndrome 1 9.8 TNNT2 KCNJ2 CD2AP
15 familial isolated dilated cardiomyopathy 9.7 TNNT2 TCAP
16 heart conduction disease 9.7 TNNT2 KCNJ2
17 primary cutaneous amyloidosis 9.7 TNNT2 TNNI1 MYL2
18 familial atrial fibrillation 9.6 TCAP KCNJ2 CD2AP
19 wolff-parkinson-white syndrome 9.6 TNNT2 KCNJ2
20 atrial standstill 1 9.5 TNNT2 TCAP MYL2
21 brugada syndrome 9.3 TNNT2 TCAP KCNJ2 CD2AP
22 intrinsic cardiomyopathy 8.9 TNNT2 TCAP MYL2 KCNJ2 CD2AP
23 hypertrophic cardiomyopathy 8.9 TNNT2 TNNI1 TCAP MYL2 KCNJ2
24 dilated cardiomyopathy 8.8 TNNT2 TNNI1 TCAP MYL2 KCNJ2
25 left ventricular noncompaction 8.7 TNNT2 TCAP MYL2 MESP1 KCNJ2 CD2AP

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 20, Presynaptic:



Diseases related to Myasthenic Syndrome, Congenital, 20, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 20, Presynaptic

Human phenotypes related to Myasthenic Syndrome, Congenital, 20, Presynaptic:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 31 occasional (7.5%) HP:0100543
2 polyhydramnios 31 occasional (7.5%) HP:0001561
3 arthrogryposis multiplex congenita 31 occasional (7.5%) HP:0002804
4 scoliosis 31 HP:0002650
5 kyphosis 31 HP:0002808
6 dysphagia 31 HP:0002015
7 ptosis 31 HP:0000508
8 facial palsy 31 HP:0010628
9 apnea 31 HP:0002104
10 dysphonia 31 HP:0001618
11 ophthalmoparesis 31 HP:0000597
12 poor suck 31 HP:0002033
13 stridor 31 HP:0010307
14 generalized hypotonia 31 HP:0001290
15 proximal muscle weakness 31 HP:0003701
16 bulbar palsy 31 HP:0001283
17 neck muscle weakness 31 HP:0000467
18 hypoventilation 31 HP:0002791
19 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis

Abdomen Gastrointestinal:
dysphagia
poor feeding
poor swallowing
poor sucking

Voice:
dysphonia

Head And Neck Neck:
neck muscle weakness

Neurologic Central Nervous System:
cognitive impairment (in some patients)

Prenatal Manifestations Amniotic Fluid:
hydramnios (in some patients)

Muscle Soft Tissue:
muscle weakness
hypotonia
delayed walking
bulbar muscle weakness
muscle fatigability
more
Head And Neck Eyes:
ptosis
ophthalmoparesis

Respiratory:
stridor
episodic apnea due to muscle weakness
chronic hypoventilation

Head And Neck Face:
facial weakness

Skeletal:
arthrogryposis (in some patients)

Clinical features from OMIM:

617143

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 20, Presynaptic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 CD2AP CTBS KCNJ2 MESP1 MYL2 SLC5A7
2 homeostasis/metabolism MP:0005376 9.76 CD2AP CTBS KCNJ2 MESP1 MYL2 SLC5A7
3 mortality/aging MP:0010768 9.56 CD2AP KCNJ2 MESP1 MYL2 PHF5A SLC5A7
4 muscle MP:0005369 9.02 KCNJ2 MESP1 MYL2 TCAP TNNT2

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 20, Presynaptic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects of the Mulligan Mobilisation Sustained Natural Apophyseal Glide (SNAG) in the Lumbar Flexion Range of Asymptomatic Subjects as Measured by the Zebris CMS20 3-D Motion Analysis System Completed NCT00678093

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 20, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 20, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 20, Presynaptic:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 20, Presynaptic 29 SLC5A7

Anatomical Context for Myasthenic Syndrome, Congenital, 20, Presynaptic

Publications for Myasthenic Syndrome, Congenital, 20, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 20, Presynaptic:

# Title Authors PMID Year
1
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 56 6
27569547 2016
2
Congenital Myasthenic Syndromes 6
20301347 2003
3
Medial stabilized and posterior stabilized TKA affect patellofemoral kinematics and retropatellar pressure distribution differently. 61
29124287 2018
4
Atlanto-axial facet displacement during rotational high-velocity low-amplitude thrust: An in vitro 3D kinematic analysis. 61
25841563 2015
5
Reproducibility of kinematic motion coupling parameters during manual upper cervical axial rotation mobilization: a 3-dimensional in vitro study of the atlanto-axial joint. 61
17728151 2009
6
The effects of the Mulligan Sustained Natural Apophyseal Glide (SNAG) mobilisation in the lumbar flexion range of asymptomatic subjects as measured by the Zebris CMS20 3-D motion analysis system. 61
18828921 2008

Variations for Myasthenic Syndrome, Congenital, 20, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 20, Presynaptic:

6 (show top 50) (show all 102) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC5A7 NM_021815.5(SLC5A7):c.1082G>A (p.Arg361Gln)SNV Pathogenic 265763 rs147656110 2:108625107-108625107 2:108008651-108008651
2 SLC5A7 NM_021815.5(SLC5A7):c.143A>G (p.Asp48Gly)SNV Pathogenic 265765 rs886039768 2:108604754-108604754 2:107988298-107988298
3 SLC5A7 NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)deletion Likely pathogenic 265764 rs886039767 2:108604733-108604736 2:107988277-107988280
4 covers 15 genes, none of which curated to show dosage sensitivity duplication Uncertain significance 464169 2:107988136-108963283
5 SLC5A7 NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe)SNV Uncertain significance 464173 rs60964124 2:108608658-108608658 2:107992202-107992202
6 SLC5A7 NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val)SNV Uncertain significance 464176 rs1553459529 2:108622641-108622641 2:108006185-108006185
7 SLC5A7 NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)SNV Uncertain significance 440281 rs148535388 2:108626880-108626880 2:108010424-108010424
8 SLC5A7 NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser)SNV Uncertain significance 450240 rs747026995 2:108627247-108627247 2:108010791-108010791
9 SLC5A7 NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val)SNV Uncertain significance 464172 rs1553460067 2:108627264-108627264 2:108010808-108010808
10 SLC5A7 NM_021815.5(SLC5A7):c.177A>G (p.Thr59=)SNV Uncertain significance 532817 rs1553457528 2:108604788-108604788 2:107988332-107988332
11 SLC5A7 NM_021815.5(SLC5A7):c.178+6T>CSNV Uncertain significance 532816 rs1553457530 2:108604795-108604795 2:107988339-107988339
12 SLC5A7 NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu)SNV Uncertain significance 532812 rs770003632 2:108626828-108626828 2:108010372-108010372
13 SLC5A7 NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala)SNV Uncertain significance 532815 rs770628227 2:108604730-108604730 2:107988274-107988274
14 SLC5A7 NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=)SNV Uncertain significance 532811 rs1553459987 2:108626840-108626840 2:108010384-108010384
15 SLC5A7 NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile)SNV Uncertain significance 532813 rs754211137 2:108627027-108627027 2:108010571-108010571
16 SLC5A7 NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)SNV Uncertain significance 532814 rs199864231 2:108627217-108627217 2:108010761-108010761
17 SLC5A7 NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)SNV Uncertain significance 549706 rs773393717 2:108627123-108627123 2:108010667-108010667
18 SLC5A7 NC_000002.11:g.(?_108604592)_(108627337_?)dupduplication Uncertain significance 583584 2:108604592-108627337 2:107988136-108010881
19 SLC5A7 NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr)SNV Uncertain significance 567377 rs1057353436 2:108604646-108604646 2:107988190-107988190
20 SLC5A7 NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu)SNV Uncertain significance 575621 rs1558857378 2:108604653-108604653 2:107988197-107988197
21 SLC5A7 NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val)SNV Uncertain significance 572195 rs1558859918 2:108608643-108608643 2:107992187-107992187
22 SLC5A7 NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe)SNV Uncertain significance 572646 rs748901270 2:108609520-108609520 2:107993064-107993064
23 SLC5A7 NM_021815.5(SLC5A7):c.463G>A (p.Val155Met)SNV Uncertain significance 581054 rs775903161 2:108614308-108614308 2:107997852-107997852
24 SLC5A7 NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe)SNV Uncertain significance 566845 rs778161682 2:108618471-108618471 2:108002015-108002015
25 SLC5A7 NM_021815.5(SLC5A7):c.1113+6A>GSNV Uncertain significance 566138 rs766515861 2:108625144-108625144 2:108008688-108008688
26 SLC5A7 NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser)SNV Uncertain significance 570704 rs1558872383 2:108626776-108626776 2:108010320-108010320
27 SLC5A7 NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys)SNV Uncertain significance 581108 rs760447400 2:108604729-108604729 2:107988273-107988273
28 SLC5A7 NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys)SNV Uncertain significance 565655 rs1558860651 2:108609554-108609554 2:107993098-107993098
29 SLC5A7 NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys)SNV Uncertain significance 579210 rs1274120636 2:108627010-108627010 2:108010554-108010554
30 SLC5A7 NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala)SNV Uncertain significance 570904 rs1558872967 2:108627127-108627127 2:108010671-108010671
31 SLC5A7 NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys)SNV Uncertain significance 571313 rs757211775 2:108609508-108609508 2:107993052-107993052
32 SLC5A7 NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr)SNV Uncertain significance 574169 rs1558860658 2:108609562-108609562 2:107993106-107993106
33 SLC5A7 NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala)SNV Uncertain significance 578654 rs1446985615 2:108626893-108626893 2:108010437-108010437
34 SLC5A7 NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe)SNV Uncertain significance 580577 rs754554826 2:108626896-108626896 2:108010440-108010440
35 SLC5A7 NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser)SNV Uncertain significance 579028 rs1558872670 2:108626961-108626961 2:108010505-108010505
36 SLC5A7 NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe)SNV Uncertain significance 571973 rs780371731 2:108627204-108627204 2:108010748-108010748
37 SLC5A7 NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser)SNV Uncertain significance 582728 rs1558873189 2:108627244-108627244 2:108010788-108010788
38 SLC5A7 NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val)SNV Uncertain significance 582726 rs911790588 2:108604642-108604642 2:107988186-107988186
39 SLC5A7 NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile)SNV Uncertain significance 580407 rs759833850 2:108626820-108626820 2:108010364-108010364
40 SLC5A7 NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys)SNV Uncertain significance 650043 2:108622551-108622551 2:108006095-108006095
41 SLC5A7 NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys)SNV Uncertain significance 650165 2:108624998-108624998 2:108008542-108008542
42 SLC5A7 NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe)SNV Uncertain significance 648681 2:108627052-108627052 2:108010596-108010596
43 SLC5A7 NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile)SNV Uncertain significance 641212 2:108627091-108627091 2:108010635-108010635
44 SLC5A7 NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile)SNV Uncertain significance 663054 2:108627103-108627103 2:108010647-108010647
45 SLC5A7 NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr)SNV Uncertain significance 660132 2:108627273-108627273 2:108010817-108010817
46 SLC5A7 NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly)SNV Uncertain significance 654254 2:108604721-108604721 2:107988265-107988265
47 SLC5A7 NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu)SNV Uncertain significance 660026 2:108608613-108608613 2:107992157-107992157
48 SLC5A7 NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His)SNV Uncertain significance 660446 2:108608621-108608621 2:107992165-107992165
49 SLC5A7 NM_021815.5(SLC5A7):c.534G>A (p.Val178=)SNV Uncertain significance 654175 2:108614379-108614379 2:107997923-107997923
50 SLC5A7 NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala)SNV Uncertain significance 663865 2:108618434-108618434 2:108001978-108001978

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 20, Presynaptic:

73
# Symbol AA change Variation ID SNP ID
1 SLC5A7 p.Asp48Gly VAR_077854 rs886039768
2 SLC5A7 p.Gly65Glu VAR_077855 rs886039765
3 SLC5A7 p.Pro105Ser VAR_077856 rs886039766
4 SLC5A7 p.Tyr111His VAR_077857
5 SLC5A7 p.Arg361Gln VAR_077861 rs147656110
6 SLC5A7 p.Arg446Gly VAR_077863

Expression for Myasthenic Syndrome, Congenital, 20, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 20, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 20, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 20, Presynaptic

Cellular components related to Myasthenic Syndrome, Congenital, 20, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 troponin complex GO:0005861 9.16 TNNT2 TNNI1
2 cardiac myofibril GO:0097512 8.96 TNNT2 MYL2
3 sarcomere GO:0030017 8.8 TNNT2 TCAP MYL2

Biological processes related to Myasthenic Syndrome, Congenital, 20, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart morphogenesis GO:0003007 9.46 MYL2 MESP1
2 somitogenesis GO:0001756 9.43 TCAP MESP1
3 skeletal muscle contraction GO:0003009 9.43 TNNT2 TNNI1 TCAP
4 sarcomere organization GO:0045214 9.4 TNNT2 TCAP
5 cardiac myofibril assembly GO:0055003 9.37 TCAP MYL2
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.33 TNNT2 TNNI1 MYL2
7 regulation of striated muscle contraction GO:0006942 9.32 TNNI1 MYL2
8 cardiac muscle contraction GO:0060048 9.26 TNNT2 TNNI1 TCAP MYL2
9 muscle filament sliding GO:0030049 8.92 TNNT2 TNNI1 TCAP MYL2

Molecular functions related to Myasthenic Syndrome, Congenital, 20, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 TCAP MYL2

Sources for Myasthenic Syndrome, Congenital, 20, Presynaptic

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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28 GO
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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