MCID: MYS051
MIFTS: 47

Myasthenic Syndrome, Congenital, 5

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 5

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 5:

Name: Myasthenic Syndrome, Congenital, 5 57 75
Endplate Acetylcholinesterase Deficiency 57 75 29 13 55 6 73
Engel Congenital Myasthenic Syndrome 57 12 75
Cms5 57 12 75
Ead 57 12 75
Myasthenic Syndrome, Congenital, Engel Type 57 75
Congenital Myasthenic Syndrome Type Ic 12 75
Congenital Myasthenic Syndrome 5 12 15
Cms Ic 12 75
Congenital Myasthenic Syndrome Type Ic, Formerly; Cms1c, Formerly 57
Congenital Myasthenic Syndrome Type Ic, Formerly 57
Endplate Acetylcholinesterase Deficiency; Ead 57
Myasthenic Syndrome, Congenital, Type 5 ) 40
Congenital Myasthenic Syndrome Engel Type 12
End Plate Acetylcholinesterase Deficiency 12
End-Plate Acetylcholinesterase Deficiency 75
Synaptic Congenital Myasthenic Syndromes 59
Congenital Myasthenic Syndrome Type 1c 75
Cms Ic, Formerly 57
Cms1c, Formerly 57
Cms1c 75
Cmse 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in infancy
later childhood onset has been reported
phenotypic variation in severity and symptoms
no response or worsening with acetylcholinesterase inhibitors
symptoms progress with worsening myopathy


HPO:

32
myasthenic syndrome, congenital, 5:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 5

OMIM : 57 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (603034)

MalaCards based summary : Myasthenic Syndrome, Congenital, 5, also known as endplate acetylcholinesterase deficiency, is related to congenital myasthenic syndrome and schwartz-jampel syndrome, type 1, and has symptoms including ophthalmoparesis An important gene associated with Myasthenic Syndrome, Congenital, 5 is COLQ (Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase), and among its related pathways/superpathways are Signaling by FGFR2 in disease and mRNA Splicing - Minor Pathway. The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are ptosis and ophthalmoparesis

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has material basis in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 5: 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 affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive.

Related Diseases for Myasthenic Syndrome, Congenital, 5

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 5:



Diseases related to Myasthenic Syndrome, Congenital, 5

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
ophthalmoparesis
slow, delayed pupillary light reflex

Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

Respiratory:
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
muscle biopsy shows type 2 fiber atrophy
underdeveloped muscles
muscle biopsy shows endplate myopathy (see details under neurologic heading)

Neurologic Peripheral Nervous System:
dysarthria
easy fatigability
hypotonia
limb weakness
prolonged miniature endplate potentials (mepp)
more
Skeletal Spine:
scoliosis
lordosis

Voice:
weak cry

Immunology:
absence of acetylcholine receptor (achr) autoantibodies


Clinical features from OMIM:

603034

Human phenotypes related to Myasthenic Syndrome, Congenital, 5:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 ophthalmoparesis 32 HP:0000597
3 muscular hypotonia 32 HP:0001252
4 dysarthria 32 HP:0001260
5 generalized hypotonia 32 HP:0001290
6 weak cry 32 HP:0001612
7 dysphagia 32 HP:0002015
8 respiratory insufficiency 32 HP:0002093
9 scoliosis 32 HP:0002650
10 abnormality of the immune system 32 HP:0002715
11 respiratory insufficiency due to muscle weakness 32 HP:0002747
12 decreased muscle mass 32 HP:0003199
13 hyperlordosis 32 HP:0003307
14 generalized muscle weakness 32 HP:0003324
15 easy fatigability 32 HP:0003388
16 emg 32 HP:0003403
17 prolonged miniature endplate currents 32 HP:0003436
18 decreased size of nerve terminals 32 HP:0003443
19 fatigable weakness 32 HP:0003473
20 type 2 muscle fiber atrophy 32 HP:0003554
21 limb muscle weakness 32 HP:0003690
22 feeding difficulties in infancy 32 HP:0008872

UMLS symptoms related to Myasthenic Syndrome, Congenital, 5:


ophthalmoparesis

GenomeRNAi Phenotypes related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.61 POLR2E POLR2G POLR2D
2 Decreased homologous recombination repair frequency GR00236-A-2 9.61 POLR2E POLR2G POLR2D
3 Decreased homologous recombination repair frequency GR00236-A-3 9.61 POLR2E POLR2G POLR2D
4 Increased caspase activity GR00400-S-1 9.17 HRASLS5 POLR2D POLR2G
5 Increased caspase activity GR00400-S-2 9.17 HRASLS5 PGAM1 POLR2D POLR2G

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 5

Drugs for Myasthenic Syndrome, Congenital, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
2
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
3 Adrenergic Agents Phase 1, Phase 2
4 Anti-Asthmatic Agents Phase 1, Phase 2
5 Autonomic Agents Phase 1, Phase 2
6 Bronchodilator Agents Phase 1, Phase 2
7 Central Nervous System Stimulants Phase 1, Phase 2
8 Nasal Decongestants Phase 1, Phase 2
9 Neurotransmitter Agents Phase 1, Phase 2
10 Peripheral Nervous System Agents Phase 1, Phase 2
11 Respiratory System Agents Phase 1, Phase 2
12 Vasoconstrictor Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2 Ephedrine

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 5

Genetic Tests for Myasthenic Syndrome, Congenital, 5

Genetic tests related to Myasthenic Syndrome, Congenital, 5:

# Genetic test Affiliating Genes
1 Endplate Acetylcholinesterase Deficiency 29 COLQ

Anatomical Context for Myasthenic Syndrome, Congenital, 5

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 5:

41
Eye

Publications for Myasthenic Syndrome, Congenital, 5

Articles related to Myasthenic Syndrome, Congenital, 5:

# Title Authors Year
1
Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome. ( 29150079 )
2018
2
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction. ( 23553736 )
2013
3
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. ( 21952943 )
2011
4
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. ( 18647752 )
2008
5
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. ( 16009904 )
2005
6
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. ( 12609505 )
2003
7
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. ( 9689136 )
1998
8
Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade. ( 8807428 )
1996
9
Congenital endplate acetylcholinesterase deficiency. ( 8390325 )
1993

Variations for Myasthenic Syndrome, Congenital, 5

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 5:

75
# Symbol AA change Variation ID SNP ID
1 COLQ p.Pro59Gln VAR_010133
2 COLQ p.Asp342Glu VAR_010134 rs758554049
3 COLQ p.Arg410Gln VAR_010135 rs1025361623Myasthenic
4 COLQ p.Tyr430Ser VAR_010136 rs121908923
5 COLQ p.Cys444Tyr VAR_010137
6 COLQ p.Ile337Thr VAR_071710

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 5:

6
(show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 COLQ COLQ, 215-BP DEL, NT107 deletion Pathogenic
2 COLQ NM_005677.3(COLQ): c.640G> T (p.Glu214Ter) single nucleotide variant Pathogenic rs104893733 GRCh37 Chromosome 3, 15512120: 15512120
3 COLQ NM_005677.3(COLQ): c.640G> T (p.Glu214Ter) single nucleotide variant Pathogenic rs104893733 GRCh38 Chromosome 3, 15470613: 15470613
4 COLQ NM_005677.3(COLQ): c.506C> G (p.Ser169Ter) single nucleotide variant Pathogenic rs104893734 GRCh37 Chromosome 3, 15516954: 15516954
5 COLQ NM_005677.3(COLQ): c.506C> G (p.Ser169Ter) single nucleotide variant Pathogenic rs104893734 GRCh38 Chromosome 3, 15475447: 15475447
6 COLQ NM_005677.3(COLQ): c.844A> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908922 GRCh37 Chromosome 3, 15499803: 15499803
7 COLQ NM_005677.3(COLQ): c.844A> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908922 GRCh38 Chromosome 3, 15458296: 15458296
8 COLQ NM_005677.3(COLQ): c.1082delC (p.Pro361Leufs) deletion Pathogenic rs769982050 GRCh37 Chromosome 3, 15497519: 15497519
9 COLQ NM_005677.3(COLQ): c.1082delC (p.Pro361Leufs) deletion Pathogenic rs769982050 GRCh38 Chromosome 3, 15456012: 15456012
10 COLQ NM_005677.3(COLQ): c.788dupC (p.Pro265Alafs) duplication Pathogenic rs759911990 GRCh37 Chromosome 3, 15507874: 15507874
11 COLQ NM_005677.3(COLQ): c.788dupC (p.Pro265Alafs) duplication Pathogenic rs759911990 GRCh38 Chromosome 3, 15466367: 15466367
12 COLQ NM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser) single nucleotide variant Pathogenic rs121908923 GRCh37 Chromosome 3, 15495345: 15495345
13 COLQ NM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser) single nucleotide variant Pathogenic rs121908923 GRCh38 Chromosome 3, 15453838: 15453838
14 COLQ NM_005677.3(COLQ): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs121908924 GRCh37 Chromosome 3, 15499704: 15499704
15 COLQ NM_005677.3(COLQ): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs121908924 GRCh38 Chromosome 3, 15458197: 15458197
16 COLQ COLQ, IVS16DS, A-G, +3 single nucleotide variant Pathogenic
17 COLQ NM_005677.3(COLQ): c.718G> T (p.Gly240Ter) single nucleotide variant Pathogenic rs104893735 GRCh37 Chromosome 3, 15507944: 15507944
18 COLQ NM_005677.3(COLQ): c.718G> T (p.Gly240Ter) single nucleotide variant Pathogenic rs104893735 GRCh38 Chromosome 3, 15466437: 15466437
19 COLQ NM_005677.3(COLQ): c.291G> A (p.Ser97=) single nucleotide variant Benign/Likely benign rs115201284 GRCh37 Chromosome 3, 15529743: 15529743
20 COLQ NM_005677.3(COLQ): c.291G> A (p.Ser97=) single nucleotide variant Benign/Likely benign rs115201284 GRCh38 Chromosome 3, 15488236: 15488236
21 COLQ NM_005677.3(COLQ): c.1338C> A (p.Ile446=) single nucleotide variant Benign/Likely benign rs73818504 GRCh38 Chromosome 3, 15451674: 15451674
22 COLQ NM_005677.3(COLQ): c.1338C> A (p.Ile446=) single nucleotide variant Benign/Likely benign rs73818504 GRCh37 Chromosome 3, 15493181: 15493181
23 COLQ NM_005677.3(COLQ): c.1108G> A (p.Asp370Asn) single nucleotide variant Benign rs116373583 GRCh38 Chromosome 3, 15455986: 15455986
24 COLQ NM_005677.3(COLQ): c.1108G> A (p.Asp370Asn) single nucleotide variant Benign rs116373583 GRCh37 Chromosome 3, 15497493: 15497493
25 COLQ NM_005677.3(COLQ): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs111339593 GRCh37 Chromosome 3, 15563061: 15563061
26 COLQ NM_005677.3(COLQ): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs111339593 GRCh38 Chromosome 3, 15521554: 15521554
27 COLQ NM_005677.3(COLQ): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs770045897 GRCh37 Chromosome 3, 15512081: 15512081
28 COLQ NM_005677.3(COLQ): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs770045897 GRCh38 Chromosome 3, 15470574: 15470574
29 COLQ NM_005677.3(COLQ): c.529-2A> G single nucleotide variant Pathogenic rs755236236 GRCh37 Chromosome 3, 15516460: 15516460
30 COLQ NM_005677.3(COLQ): c.529-2A> G single nucleotide variant Pathogenic rs755236236 GRCh38 Chromosome 3, 15474953: 15474953
31 COLQ NM_005677.3(COLQ): c.23C> G (p.Thr8Ser) single nucleotide variant Benign/Likely benign rs189427175 GRCh37 Chromosome 3, 15563110: 15563110
32 COLQ NM_005677.3(COLQ): c.23C> G (p.Thr8Ser) single nucleotide variant Benign/Likely benign rs189427175 GRCh38 Chromosome 3, 15521603: 15521603
33 COLQ NM_005677.3(COLQ): c.106+6T> C single nucleotide variant Uncertain significance rs201376373 GRCh37 Chromosome 3, 15563021: 15563021
34 COLQ NM_005677.3(COLQ): c.106+6T> C single nucleotide variant Uncertain significance rs201376373 GRCh38 Chromosome 3, 15521514: 15521514
35 COLQ NM_005677.3(COLQ): c.1081C> T (p.Pro361Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116828761 GRCh37 Chromosome 3, 15497520: 15497520
36 COLQ NM_005677.3(COLQ): c.1081C> T (p.Pro361Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116828761 GRCh38 Chromosome 3, 15456013: 15456013
37 COLQ NM_005677.3(COLQ): c.912C> T (p.Tyr304=) single nucleotide variant Conflicting interpretations of pathogenicity rs886058099 GRCh38 Chromosome 3, 15458228: 15458228
38 COLQ NM_005677.3(COLQ): c.912C> T (p.Tyr304=) single nucleotide variant Conflicting interpretations of pathogenicity rs886058099 GRCh37 Chromosome 3, 15499735: 15499735
39 COLQ NM_005677.3(COLQ): c.561C> T (p.Ser187=) single nucleotide variant Conflicting interpretations of pathogenicity rs149370622 GRCh38 Chromosome 3, 15474267: 15474267
40 COLQ NM_005677.3(COLQ): c.561C> T (p.Ser187=) single nucleotide variant Conflicting interpretations of pathogenicity rs149370622 GRCh37 Chromosome 3, 15515774: 15515774
41 COLQ NM_005677.3(COLQ): c.788C> T (p.Pro263Leu) single nucleotide variant Uncertain significance rs146619514 GRCh37 Chromosome 3, 15507874: 15507874
42 COLQ NM_005677.3(COLQ): c.788C> T (p.Pro263Leu) single nucleotide variant Uncertain significance rs146619514 GRCh38 Chromosome 3, 15466367: 15466367
43 COLQ NM_005677.3(COLQ): c.1321A> G (p.Thr441Ala) single nucleotide variant Likely pathogenic rs375215281 GRCh37 Chromosome 3, 15493198: 15493198
44 COLQ NM_005677.3(COLQ): c.1321A> G (p.Thr441Ala) single nucleotide variant Likely pathogenic rs375215281 GRCh38 Chromosome 3, 15451691: 15451691
45 COLQ NM_005677.3(COLQ): c.1162G> A (p.Asp388Asn) single nucleotide variant Uncertain significance rs1008156537 GRCh38 Chromosome 3, 15455932: 15455932
46 COLQ NM_005677.3(COLQ): c.1162G> A (p.Asp388Asn) single nucleotide variant Uncertain significance rs1008156537 GRCh37 Chromosome 3, 15497439: 15497439
47 COLQ NM_005677.3(COLQ): c.484G> T (p.Gly162Cys) single nucleotide variant Uncertain significance rs376385207 GRCh38 Chromosome 3, 15475469: 15475469
48 COLQ NM_005677.3(COLQ): c.484G> T (p.Gly162Cys) single nucleotide variant Uncertain significance rs376385207 GRCh37 Chromosome 3, 15516976: 15516976
49 COLQ NM_005677.3(COLQ): c.432G> A (p.Gly144=) single nucleotide variant Likely benign rs993225440 GRCh38 Chromosome 3, 15477159: 15477159
50 COLQ NM_005677.3(COLQ): c.432G> A (p.Gly144=) single nucleotide variant Likely benign rs993225440 GRCh37 Chromosome 3, 15518666: 15518666

Expression for Myasthenic Syndrome, Congenital, 5

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 5.

Pathways for Myasthenic Syndrome, Congenital, 5

Pathways related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 POLR2D POLR2E POLR2G
2 11.06 POLR2D POLR2E POLR2G
3
Show member pathways
10.82 POLR2D POLR2E POLR2G
4 10.26 POLR2D POLR2E POLR2G

GO Terms for Myasthenic Syndrome, Congenital, 5

Cellular components related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed RNA polymerase II, core complex GO:0005665 9.33 POLR2D POLR2E POLR2G
2 DNA-directed RNA polymerase complex GO:0000428 9.26 POLR2E POLR2G
3 basal lamina GO:0005605 9.13 ACHE COLQ LAMB2
4 synaptic cleft GO:0043083 8.8 ACHE COLQ LAMB2

Biological processes related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.71 POLR2D POLR2E POLR2G
2 transcription elongation from RNA polymerase II promoter GO:0006368 9.69 POLR2D POLR2E POLR2G
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 POLR2D POLR2E POLR2G
4 regulation of gene silencing by miRNA GO:0060964 9.65 POLR2D POLR2E POLR2G
5 transcription-coupled nucleotide-excision repair GO:0006283 9.61 POLR2D POLR2E POLR2G
6 snRNA transcription by RNA polymerase II GO:0042795 9.54 POLR2D POLR2E POLR2G
7 positive regulation of translational initiation GO:0045948 9.52 POLR2D POLR2G
8 somatic stem cell population maintenance GO:0035019 9.5 POLR2D POLR2E POLR2G
9 neurotransmitter catabolic process GO:0042135 9.46 ACHE COLQ
10 RNA metabolic process GO:0016070 9.43 POLR2D POLR2E POLR2G
11 phosphorelay signal transduction system GO:0000160 9.4 KCNH1 KCNH2
12 7-methylguanosine mRNA capping GO:0006370 9.33 POLR2D POLR2E POLR2G
13 positive regulation of viral transcription GO:0050434 9.13 POLR2D POLR2E POLR2G
14 acetylcholine catabolic process in synaptic cleft GO:0001507 8.62 ACHE COLQ

Molecular functions related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 delayed rectifier potassium channel activity GO:0005251 9.26 KCNH1 KCNH2
2 translation initiation factor binding GO:0031369 9.16 POLR2D POLR2G
3 phosphorelay sensor kinase activity GO:0000155 8.96 KCNH1 KCNH2
4 DNA-directed 5-3 RNA polymerase activity GO:0003899 8.8 POLR2D POLR2E POLR2G

Sources for Myasthenic Syndrome, Congenital, 5

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