EDMD3
MCID: EMR020
MIFTS: 45

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive (EDMD3)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

Name: Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 56 12 73 29 6
Edmd3 56 12 58 73
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3 12 15
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 58 71
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive 39
Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive 73
Emery-Dreifuss Muscular Dystrophy 3 71

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive emery-dreifuss muscular dystrophy
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
variable age at onset, usually first or second decade
heterozygous mutation carriers may have late-onset cardiac arrhythmias
three unrelated families have been reported (last curated august 2015)


HPO:

31
emery-dreifuss muscular dystrophy 3, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

OMIM : 56 Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012). For a discussion of genetic heterogeneity of EDMD, see 310300. (616516)

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive, also known as edmd3, is related to familial partial lipodystrophy and muscular dystrophy, and has symptoms including torticollis An important gene associated with Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include adipocyte, and related phenotypes are pectus excavatum and joint stiffness

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal recessive mutation of LMNA on chromosome 1q22.

UniProtKB/Swiss-Prot : 73 Emery-Dreifuss muscular dystrophy 3, autosomal recessive: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

Related Diseases for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Diseases related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 familial partial lipodystrophy 30.4 LMNA EMD
2 muscular dystrophy 28.3 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
3 emery-dreifuss muscular dystrophy 27.4 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
4 lipodystrophy, familial partial, type 2 10.4
5 limb-girdle muscular dystrophy 10.4
6 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 TMEM43 LMNA
7 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 TMEM43 LMNA
8 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TMEM43 LMNA
9 first-degree atrioventricular block 10.2 LMNA EMD
10 left bundle branch hemiblock 10.2 TMEM43 LMNA
11 autosomal dominant limb-girdle muscular dystrophy 10.2 LMNA EMD
12 muscular dystrophy, congenital merosin-deficient, 1a 10.1 LMNA EMD
13 emerinopathy 9.9 SUN2 LMNA EMD
14 arrhythmogenic right ventricular cardiomyopathy 9.9 TMEM43 LMNA EMD
15 myopathy, x-linked, with postural muscle atrophy 9.9 TMEM43 SUN2 EMD
16 x-linked emery-dreifuss muscular dystrophy 9.8 SYNE2 SYNE1 LMNA EMD
17 long qt syndrome 9.7 TMEM43 SYNE2 LMNA
18 nonencapsulated sclerosing carcinoma 9.7 LMNB2 LMNB1 LMNA
19 neuromuscular disease 9.7 SUN2 LMNA EMD
20 osteopoikilosis 9.6 LMNA LEMD3 EMD
21 lipodystrophy, familial partial, type 5 9.5 LMNB2 LMNB1 LMNA EMD
22 muscle tissue disease 9.5 LMNB2 LMNB1 LMNA EMD
23 laminopathy 9.4 SYNE2 SUN2 SUN1 LMNA EMD
24 reynolds syndrome 9.3 SUN2 LMNB2 LMNB1 LMNA
25 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.3 SYNE1 LMNB2 LMNB1 LMNA EMD
26 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.2 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
27 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.2 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
28 dilated cardiomyopathy 9.1 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
29 charcot-marie-tooth disease 8.8 SUN2 SUN1 LMNB2 LMNB1 LMNA EMD
30 charcot-marie-tooth disease, axonal, type 2b1 8.8 TMEM43 SYNE1 SUN1 LMNB2 LMNB1 LMNA
31 emery-dreifuss muscular dystrophy 7, autosomal dominant 8.3 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
32 cardiomyopathy, dilated, 1h 8.2 SYNE3 SYNE1 SUN2 SUN1 LMNB2 LMNB1
33 cardiomyopathy, dilated, 1a 8.1 TMEM43 SYNE3 SYNE2 SYNE1 SUN1 LMNB2
34 pelger-huet anomaly 8.1 SYNE2 SYNE1 SUN1 LMNB2 LMNB1 LMNA
35 muscular disease 7.7 SYNE2 SYNE1 SUN2 SUN1 LMNB2 LMNB1
36 emery-dreifuss muscular dystrophy 1, x-linked 7.7 TMEM43 SYNE4 SYNE2 SYNE1 SUN2 SUN1
37 hutchinson-gilford progeria syndrome 7.0 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1
38 muscular dystrophy, congenital, lmna-related 6.8 TMEM43 SYNE4 SYNE3 SYNE2 SYNE1 SUN2
39 emery-dreifuss muscular dystrophy 2, autosomal dominant 6.8 TMEM43 SYNE4 SYNE3 SYNE2 SYNE1 SUN2

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:



Diseases related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
4 limb-girdle muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006785
5 hyporeflexia of lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0002600
6 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
7 sudden cardiac death 58 31 frequent (33%) Frequent (79-30%) HP:0001645
8 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
9 hypertriglyceridemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002155
10 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
11 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
12 achilles tendon contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001771
13 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
14 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
15 increased ldl cholesterol concentration 58 31 occasional (7.5%) Frequent (79-30%) HP:0003141
16 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
17 back pain 58 31 frequent (33%) Frequent (79-30%) HP:0003418
18 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
19 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
20 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
21 decreased cervical spine flexion due to contractures of posterior cervical muscles 58 31 frequent (33%) Frequent (79-30%) HP:0004631
22 proximal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008948
23 proximal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008956
24 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
25 proximal muscle weakness in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008997
26 type 1 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011807
27 absent muscle fiber emerin 58 31 frequent (33%) Frequent (79-30%) HP:0030117
28 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
29 supraventricular arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0005115
30 ventricular escape rhythm 58 31 frequent (33%) Frequent (79-30%) HP:0005155
31 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
32 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
33 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
34 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
35 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
36 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
37 lipodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009125
38 gait disturbance 58 31 Frequent (79-30%) HP:0001288
39 intellectual disability 58 Excluded (0%)
40 muscle weakness 31 HP:0001324
41 myopathy 58 Very frequent (99-80%)
42 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
43 arrhythmia 31 HP:0011675
44 muscular dystrophy 31 HP:0003560

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis (in some patients)

Skeletal Limbs:
elbow contractures

Muscle Soft Tissue:
gait difficulties
muscle biopsy shows dystrophic changes
muscle weakness, proximal, upper and lower limbs
muscle atrophy, proximal, upper and lower limbs
partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

Skeletal Feet:
heel cord contractures

Laboratory Abnormalities:
increased serum creatine kinase
increased triglycerides (1 family)
increased ldl cholesterol (1 family)

Cardiovascular Heart:
arrhythmias
premature supraventricular and ventricular contractions

Head And Neck Neck:
neck contractures

Neurologic Peripheral Nervous System:
loss of reflexes in the lower limbs

Clinical features from OMIM:

616516

UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:


torticollis

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 EMD LEMD3 LMNA LMNB1 LMNB2 SUN1
2 cardiovascular system MP:0005385 9.87 EMD LEMD3 LMNA SUN1 SYNE1 SYNE2
3 mortality/aging MP:0010768 9.81 LEMD3 LMNA LMNB1 LMNB2 SUN1 SUN2
4 muscle MP:0005369 9.56 EMD LMNA LMNB1 LMNB2 SUN1 SUN2
5 nervous system MP:0003631 9.23 LMNA LMNB1 LMNB2 SUN1 SUN2 SYNE1

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 29 LMNA

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

40
Adipocyte

Publications for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Articles related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

# Title Authors PMID Year
1
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 56 6 61
23313286 2013
2
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 56 6 61
22431096 2012
3
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 56 6 61
10739764 2000
4
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
5
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 6
16415042 2006
6
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
7
Drawing the line in progeria syndromes. 6
12927424 2003
8
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 6
10655060 2000
9
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 6
10587585 2000
10
[Autosomal recessive Emery-Dreifuss muscular dystrophy(AR-EDMD)]. 61
11555962 2001

Variations for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
2 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr)SNV Pathogenic 14492 rs28928901 1:156104620-156104620 1:156134829-156134829
3 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)SNV Pathogenic 41234 rs199474724 1:156104630-156104630 1:156134839-156134839
4 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
5 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
6 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)SNV Uncertain significance 66797 rs267607606 1:156106090-156106090 1:156136299-156136299
7 LMNA NM_170707.4(LMNA):c.1381-5G>ASNV Uncertain significance 180405 rs730880133 1:156106707-156106707 1:156136916-156136916
8 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)SNV Uncertain significance 245964 rs200466188 1:156106818-156106818 1:156137027-156137027
9 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met)SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545
10 LMNA NM_170707.4(LMNA):c.1338T>C (p.Asp446=)SNV Benign 48037 rs505058 1:156106185-156106185 1:156136394-156136394
11 LMNA NM_005572.3(LMNA):c.1698C>T (p.His566=)SNV Benign 48048 rs4641 1:156107534-156107534 1:156137743-156137743

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 LMNA p.Arg225Gln VAR_067697 rs199474724
2 LMNA p.Thr24Ser VAR_076562

Expression for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive.

Pathways for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Pathways related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
2
Show member pathways
12.46 LMNB1 LMNA LEMD3 EMD
3
Show member pathways
12.29 LMNB1 LMNA LEMD3 EMD
4 12.11 LMNB2 LMNB1 LMNA EMD
5 11.9 LMNB2 LMNB1 LMNA
6
Show member pathways
11.9 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
7
Show member pathways
11.84 LMNB2 LMNB1 LMNA
8
Show member pathways
11.14 LMNB1 LMNA
9
Show member pathways
11.12 LMNB2 LMNB1 LMNA
10
Show member pathways
10.44 LMNB1 LMNA LEMD3 EMD

GO Terms for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Cellular components related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.21 TMEM43 SYNE4 SYNE3 SYNE2 SYNE1 SUN2
2 membrane GO:0016020 10.2 TMEM43 SYNE4 SYNE3 SYNE2 SYNE1 SUN2
3 integral component of membrane GO:0016021 10.16 TMEM43 SYNE4 SYNE3 SYNE2 SYNE1 SUN2
4 cell GO:0005623 9.89 SYNE3 SYNE2 SYNE1 SUN2 SUN1
5 nuclear inner membrane GO:0005637 9.8 TMEM43 SUN2 SUN1 LMNB2 LMNB1 LEMD3
6 nuclear outer membrane GO:0005640 9.72 SYNE4 SYNE3 SYNE2 SYNE1 EMD
7 integral component of nuclear inner membrane GO:0005639 9.67 TMEM43 SUN2 SUN1 LEMD3
8 intermediate filament GO:0005882 9.65 LMNB2 LMNB1 LMNA
9 nuclear membrane GO:0031965 9.65 SYNE3 SYNE2 SYNE1 SUN2 SUN1 LMNB2
10 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.63 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1
11 lamin filament GO:0005638 9.58 LMNB2 LMNB1 LMNA
12 nuclear envelope GO:0005635 9.32 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1

Biological processes related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.58 SYNE1 LMNA LEMD3
2 nuclear envelope organization GO:0006998 9.54 SUN2 SUN1 LMNA
3 centrosome localization GO:0051642 9.5 SYNE2 SUN2 SUN1
4 mitotic nuclear envelope reassembly GO:0007084 9.46 LMNA EMD
5 nuclear migration along microfilament GO:0031022 9.43 SYNE2 SUN2
6 nuclear migration GO:0007097 9.43 SYNE3 SYNE2 SUN2
7 nuclear matrix anchoring at nuclear membrane GO:0090292 9.33 SYNE1 SUN2 SUN1
8 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.13 SYNE2 SUN2 SUN1
9 cytoskeletal anchoring at nuclear membrane GO:0090286 9.02 SYNE3 SYNE2 SYNE1 SUN2 SUN1

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 TMEM43 SYNE4 SYNE3 SYNE2 SYNE1 SUN2
2 actin filament binding GO:0051015 9.43 SYNE3 SYNE2 SYNE1
3 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
4 lamin binding GO:0005521 8.8 SYNE1 SUN2 SUN1

Sources for Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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