MCID: CNG112
MIFTS: 35

Congenital Muscular Dystrophy Type 1a

Categories: Rare diseases, Muscle diseases, Neuronal diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Congenital Muscular Dystrophy Type 1a

MalaCards integrated aliases for Congenital Muscular Dystrophy Type 1a:

Name: Congenital Muscular Dystrophy Type 1a 53
Merosin-Deficient Congenital Muscular Dystrophy 53 37
Merosin Deficient Congenital Muscular Dystrophy 29 6
Muscular Dystrophy, Congenital, Merosin-Deficient 53
Muscular Dystrophy Congenital, Merosin Negative 73
Merosin-Negative Congenital Muscular Dystrophy 53
Lama2-Related Muscular Dystrophy 53
Laminin Alpha-2 Deficiency 53
Mdc1a 53

Classifications:



Summaries for Congenital Muscular Dystrophy Type 1a

NIH Rare Diseases : 53 Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and includes a multidisciplinary approach.

MalaCards based summary : Congenital Muscular Dystrophy Type 1a, also known as merosin-deficient congenital muscular dystrophy, is related to lama2-related muscular dystrophy and muscular dystrophy, congenital merosin-deficient, 1a. An important gene associated with Congenital Muscular Dystrophy Type 1a is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways is ECM-receptor interaction. Affiliated tissues include eye, brain and tongue, and related phenotypes are macroglossia and open mouth

Related Diseases for Congenital Muscular Dystrophy Type 1a

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Type 1a

Diseases related to Congenital Muscular Dystrophy Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lama2-related muscular dystrophy 11.2
2 muscular dystrophy, congenital merosin-deficient, 1a 11.2
3 muscular dystrophy, congenital, lmna-related 10.5
4 muscular dystrophy 10.5
5 leigh syndrome 10.0
6 laryngitis 10.0

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy Type 1a:



Diseases related to Congenital Muscular Dystrophy Type 1a

Symptoms & Phenotypes for Congenital Muscular Dystrophy Type 1a

Human phenotypes related to Congenital Muscular Dystrophy Type 1a:

32 (show all 44)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 frequent (33%) HP:0000158
2 open mouth 32 occasional (7.5%) HP:0000194
3 abnormality of visual evoked potentials 32 occasional (7.5%) HP:0000649
4 intellectual disability 32 frequent (33%) HP:0001249
5 motor delay 32 hallmark (90%) HP:0001270
6 pachygyria 32 occasional (7.5%) HP:0001302
7 neonatal hypotonia 32 occasional (7.5%) HP:0001319
8 flexion contracture 32 frequent (33%) HP:0001371
9 weak cry 32 hallmark (90%) HP:0001612
10 cardiomyopathy 32 occasional (7.5%) HP:0001638
11 dysphagia 32 occasional (7.5%) HP:0002015
12 gastroesophageal reflux 32 hallmark (90%) HP:0002020
13 myopathic facies 32 occasional (7.5%) HP:0002058
14 pulmonary arterial hypertension 32 very rare (1%) HP:0002092
15 absence seizures 32 occasional (7.5%) HP:0002121
16 cerebral edema 32 frequent (33%) HP:0002181
17 hypokinesia 32 hallmark (90%) HP:0002375
18 astrocytosis 32 frequent (33%) HP:0002446
19 inability to walk 32 hallmark (90%) HP:0002540
20 scoliosis 32 occasional (7.5%) HP:0002650
21 recurrent lower respiratory tract infections 32 frequent (33%) HP:0002783
22 hypoventilation 32 occasional (7.5%) HP:0002791
23 aspiration 32 frequent (33%) HP:0002835
24 respiratory failure 32 hallmark (90%) HP:0002878
25 hyperlordosis 32 occasional (7.5%) HP:0003307
26 congenital muscular dystrophy 32 hallmark (90%) HP:0003741
27 decreased body weight 32 occasional (7.5%) HP:0004325
28 intercostal muscle weakness 32 occasional (7.5%) HP:0004878
29 impaired mastication 32 frequent (33%) HP:0005216
30 pontocerebellar atrophy 32 occasional (7.5%) HP:0006879
31 sensorimotor neuropathy 32 occasional (7.5%) HP:0007141
32 focal seizures 32 occasional (7.5%) HP:0007359
33 increased connective tissue 32 hallmark (90%) HP:0009025
34 facial palsy 32 frequent (33%) HP:0010628
35 abnormality of the temporomandibular joint 32 frequent (33%) HP:0010754
36 protruding tongue 32 occasional (7.5%) HP:0010808
37 arrhythmia 32 occasional (7.5%) HP:0011675
38 reduced ejection fraction 32 occasional (7.5%) HP:0012664
39 abnormal brainstem mri signal intensity 32 frequent (33%) HP:0012747
40 highly elevated creatine phosphokinase 32 hallmark (90%) HP:0030234
41 muscle fiber atrophy 32 hallmark (90%) HP:0100295
42 cognitive impairment 32 occasional (7.5%) HP:0100543
43 myositis 32 hallmark (90%) HP:0100614
44 atelectasis 32 occasional (7.5%) HP:0100750

Drugs & Therapeutics for Congenital Muscular Dystrophy Type 1a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
2 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028

Search NIH Clinical Center for Congenital Muscular Dystrophy Type 1a

Genetic Tests for Congenital Muscular Dystrophy Type 1a

Genetic tests related to Congenital Muscular Dystrophy Type 1a:

# Genetic test Affiliating Genes
1 Merosin Deficient Congenital Muscular Dystrophy 29 LAMA2

Anatomical Context for Congenital Muscular Dystrophy Type 1a

MalaCards organs/tissues related to Congenital Muscular Dystrophy Type 1a:

41
Eye, Brain, Tongue, Skeletal Muscle, Skin

Publications for Congenital Muscular Dystrophy Type 1a

Articles related to Congenital Muscular Dystrophy Type 1a:

(show top 50) (show all 62)
# Title Authors Year
1
Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report. ( 28804634 )
2017
2
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017
3
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. ( 28714989 )
2017
4
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. ( 26104111 )
2016
5
Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A. ( 26347253 )
2015
6
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. ( 25124546 )
2014
7
Laminin-111 improves muscle repair in a mouse model of merosin-deficient congenital muscular dystrophy. ( 24009313 )
2014
8
Congenital muscular dystrophy type 1A with residual merosin expression. ( 24778697 )
2014
9
Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. ( 24604798 )
2014
10
A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy. ( 24628934 )
2014
11
Hemodynamic instability during prone spine surgery in a patient with merosin-deficient congenital muscular dystrophy. ( 23279697 )
2013
12
Merosin-deficient congenital muscular dystrophy type 1A: A case report. ( 24223650 )
2013
13
Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy. ( 22322301 )
2012
14
Orthognathic surgery and partial glossectomy in a patient with merosin-deficient congenital muscular dystrophy. ( 22260916 )
2012
15
Merosin-deficient congenital muscular dystrophy (MDCMD): a case report with MRI, MRS and DTI findings. ( 23365711 )
2012
16
Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy. ( 20303224 )
2011
17
Transgenic overexpression of the I+7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. ( 21652631 )
2011
18
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. ( 21441569 )
2011
19
Improved muscle strength and mobility in the dy(2J)/dy(2J) mouse with merosin deficient congenital muscular dystrophy treated with Glatiramer acetate. ( 20304648 )
2010
20
[Merosin-deficient congenital muscular dystrophy]. ( 20607928 )
2010
21
Merosin-deficient congenital muscular dystrophy in Korea. ( 18723302 )
2009
22
Intrinsic laryngeal muscles are spared from degeneration in the dy3K/dy3K mouse model of congenital muscular dystrophy type 1A. ( 19086066 )
2009
23
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. ( 18406646 )
2009
24
Merosin-deficient congenital muscular dystrophy type 1A. ( 18516331 )
2008
25
Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China. ( 19294599 )
2008
26
Merosin-deficient congenital muscular dystrophy in an Omani boy. ( 21063346 )
2008
27
Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. ( 15750812 )
2005
28
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. ( 16084089 )
2005
29
Merosin-deficient congenital muscular dystrophy in two siblings. ( 15591603 )
2004
30
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. ( 12661054 )
2003
31
Sternohyoid muscle fatigue properties of dy/dy dystrophic mice, an animal model of merosin-deficient congenital muscular dystrophy. ( 12840158 )
2003
32
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. ( 12467726 )
2003
33
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). ( 11938437 )
2002
34
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. ( 11369186 )
2001
35
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. ( 11297945 )
2001
36
High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy. ( 10838257 )
2000
37
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. ( 11053680 )
2000
38
Merosin-deficient congenital muscular dystrophy: neuropathology case reports. ( 12067464 )
2000
39
Myocarditis associated with parvovirus B19 infection in two siblings with merosin-deficient congenital muscular dystrophy. ( 10653351 )
2000
40
Limitation of eye movement in merosin-deficient congenital muscular dystrophy. ( 9929033 )
1999
41
MR imaging findings in children with merosin-deficient congenital muscular dystrophy. ( 10094364 )
1999
42
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. ( 10220862 )
1999
43
Feeding problems in merosin deficient congenital muscular dystrophy. ( 10332004 )
1999
44
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? ( 10543397 )
1999
45
Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study. ( 10220863 )
1999
46
Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. ( 9631397 )
1998
47
Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models. ( 9710454 )
1998
48
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. ( 9736139 )
1998
49
Merosin-deficient congenital muscular dystrophy and cortical dysplasia. ( 10724100 )
1998
50
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. ( 9039983 )
1997

Variations for Congenital Muscular Dystrophy Type 1a

ClinVar genetic disease variations for Congenital Muscular Dystrophy Type 1a:

6
(show top 50) (show all 144)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA2 LAMA2, IVS30, A-T, -2 single nucleotide variant Pathogenic
2 LAMA2 NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic rs121913569 GRCh37 Chromosome 6, 129636783: 129636783
3 LAMA2 NM_000426.3(LAMA2): c.3718C> T (p.Gln1240Ter) single nucleotide variant Pathogenic rs121913569 GRCh38 Chromosome 6, 129315638: 129315638
4 LAMA2 LAMA2, 1-BP DEL, 8314A deletion Pathogenic
5 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh37 Chromosome 6, 129802526: 129802526
6 LAMA2 NM_000426.3(LAMA2): c.7691T> C (p.Leu2564Pro) single nucleotide variant Pathogenic rs121913570 GRCh38 Chromosome 6, 129481381: 129481381
7 LAMA2 LAMA2, 2-BP DEL, 2098AG deletion Pathogenic
8 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh37 Chromosome 6, 129802567: 129802567
9 LAMA2 NM_000426.3(LAMA2): c.7732C> T (p.Arg2578Ter) single nucleotide variant Pathogenic rs121913572 GRCh38 Chromosome 6, 129481422: 129481422
10 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh37 Chromosome 6, 129785589: 129785589
11 LAMA2 NM_000426.3(LAMA2): c.7147C> T (p.Arg2383Ter) single nucleotide variant Pathogenic rs121913576 GRCh38 Chromosome 6, 129464444: 129464444
12 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh37 Chromosome 6, 129618874: 129618874
13 LAMA2 NM_000426.3(LAMA2): c.2901C> A (p.Cys967Ter) single nucleotide variant Pathogenic rs121913577 GRCh38 Chromosome 6, 129297729: 129297729
14 LAMA1; LAMA2 LAMA, 1-BP DEL, 825C deletion Pathogenic
15 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh37 Chromosome 6, 129805906: 129810893
16 LAMA2 NM_000426.3(LAMA2): c.7750-1713_7899-2153del4987 deletion Pathogenic GRCh38 Chromosome 6, 129484761: 129489748
17 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh37 Chromosome 6, 129571328: 129571335
18 LAMA2 NM_000426.3(LAMA2): c.1854_1861dupACGTGTTC (p.Leu621Hisfs) duplication Pathogenic rs202247791 GRCh38 Chromosome 6, 129250183: 129250190
19 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Pathogenic/Likely pathogenic rs202247792 GRCh37 Chromosome 6, 129807750: 129807750
20 LAMA2 NM_000426.3(LAMA2): c.7881T> G (p.His2627Gln) single nucleotide variant Pathogenic/Likely pathogenic rs202247792 GRCh38 Chromosome 6, 129486605: 129486605
21 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic rs398123367 GRCh37 Chromosome 6, 129204503: 129204503
22 LAMA2 NM_000426.3(LAMA2): c.112+1G> A single nucleotide variant Pathogenic rs398123367 GRCh38 Chromosome 6, 128883358: 128883358
23 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh37 Chromosome 6, 129371134: 129371134
24 LAMA2 NM_000426.3(LAMA2): c.184G> T (p.Gly62Ter) single nucleotide variant Pathogenic rs398123368 GRCh38 Chromosome 6, 129049989: 129049989
25 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh37 Chromosome 6, 129612758: 129612758
26 LAMA2 NM_000426.3(LAMA2): c.2750-1G> C single nucleotide variant Pathogenic rs9492297 GRCh38 Chromosome 6, 129291613: 129291613
27 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs398123371 GRCh37 Chromosome 6, 129618935: 129618935
28 LAMA2 NM_000426.3(LAMA2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic rs398123371 GRCh38 Chromosome 6, 129297790: 129297790
29 LAMA2 NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs) deletion Pathogenic rs398123372 GRCh37 Chromosome 6, 129636695: 129636695
30 LAMA2 NM_000426.3(LAMA2): c.3630delT (p.Ile1210Metfs) deletion Pathogenic rs398123372 GRCh38 Chromosome 6, 129315550: 129315550
31 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh37 Chromosome 6, 129637234: 129637234
32 LAMA2 NM_000426.3(LAMA2): c.3976C> T (p.Arg1326Ter) single nucleotide variant Pathogenic rs398123373 GRCh38 Chromosome 6, 129316089: 129316089
33 LAMA2 NM_000426.3(LAMA2): c.4523+1G> A single nucleotide variant Pathogenic rs398123375 GRCh37 Chromosome 6, 129670530: 129670530
34 LAMA2 NM_000426.3(LAMA2): c.4523+1G> A single nucleotide variant Pathogenic rs398123375 GRCh38 Chromosome 6, 129349385: 129349385
35 LAMA2 NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter) single nucleotide variant Pathogenic rs201632009 GRCh37 Chromosome 6, 129704357: 129704357
36 LAMA2 NM_000426.3(LAMA2): c.5050G> T (p.Glu1684Ter) single nucleotide variant Pathogenic rs201632009 GRCh38 Chromosome 6, 129383212: 129383212
37 LAMA2 NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs) deletion Pathogenic rs398123377 GRCh37 Chromosome 6, 129723612: 129723618
38 LAMA2 NM_000426.3(LAMA2): c.5706_5712delCTCATCT (p.Asp1902Glufs) deletion Pathogenic rs398123377 GRCh38 Chromosome 6, 129402467: 129402473
39 LAMA2 NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter) single nucleotide variant Pathogenic rs398123378 GRCh37 Chromosome 6, 129748945: 129748945
40 LAMA2 NM_000426.3(LAMA2): c.5914C> T (p.Gln1972Ter) single nucleotide variant Pathogenic rs398123378 GRCh38 Chromosome 6, 129427800: 129427800
41 LAMA2 NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs) deletion Pathogenic rs398123379 GRCh37 Chromosome 6, 129759833: 129759833
42 LAMA2 NM_000426.3(LAMA2): c.6011delA (p.Asn2004Metfs) deletion Pathogenic rs398123379 GRCh38 Chromosome 6, 129438688: 129438688
43 LAMA2 NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs) deletion Pathogenic rs398123380 GRCh37 Chromosome 6, 129759860: 129759860
44 LAMA2 NM_000426.3(LAMA2): c.6038delT (p.Leu2013Terfs) deletion Pathogenic rs398123380 GRCh38 Chromosome 6, 129438715: 129438715
45 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh37 Chromosome 6, 129781432: 129781432
46 LAMA2 NM_000426.3(LAMA2): c.6955C> T (p.Arg2319Ter) single nucleotide variant Pathogenic rs398123383 GRCh38 Chromosome 6, 129460287: 129460287
47 LAMA2 NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs) deletion Pathogenic rs398123385 GRCh37 Chromosome 6, 129786413: 129786414
48 LAMA2 NM_000426.3(LAMA2): c.7279_7280delCT (p.Leu2427Valfs) deletion Pathogenic rs398123385 GRCh38 Chromosome 6, 129465268: 129465269
49 LAMA2 NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs) deletion Pathogenic rs398123387 GRCh37 Chromosome 6, 129799922: 129799922
50 LAMA2 NM_000426.3(LAMA2): c.7536delC (p.Asp2513Ilefs) deletion Pathogenic rs398123387 GRCh38 Chromosome 6, 129478777: 129478777

Expression for Congenital Muscular Dystrophy Type 1a

Search GEO for disease gene expression data for Congenital Muscular Dystrophy Type 1a.

Pathways for Congenital Muscular Dystrophy Type 1a

Pathways related to Congenital Muscular Dystrophy Type 1a according to KEGG:

37
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512

GO Terms for Congenital Muscular Dystrophy Type 1a

Sources for Congenital Muscular Dystrophy Type 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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