LGMD2E
MCID: MSC114
MIFTS: 43

Muscular Dystrophy, Limb-Girdle, Type 2e (LGMD2E) malady

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2e

Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2e:

Name: Muscular Dystrophy, Limb-Girdle, Type 2e 54 12 13
Beta-Sarcoglycanopathy 12 50 24 56 29 69
Lgmd2e 12 50 24 56 66 52
Lgmd2s 12 50 24 56 66
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 12 50 56 14
Muscular Dystrophy, Limb-Girdle, Type 2s 54 12 50 69
Lgmd2y 12 24 56 66
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 12 56 14
Muscular Dystrophy, Limb-Girdle, Type 2y 12 24 66
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency 12 56
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine 12 56
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 12 56
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency 12 56
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y 12 56
Limb-Girdle Muscular Dystrophy Type 2s 50 24
Limb-Girdle Muscular Dystrophy 2y 66 29
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 50
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 50
Limb-Girdle Muscular Dystrophy, Type 2e 69
Limb-Girdle Muscular Dystrophy Type 2e 50
Limb-Girdle Muscular Dystrophy Type 2y 24
Limb-Girdle Muscular Dystrophy 2e 66
Limb-Girdle Muscular Dystrophy 2s 66

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2s
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
autosomal recessive limb-girdle muscular dystrophy type 2y
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;
autosomal recessive limb-girdle muscular dystrophy type 2e
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United Kingdom),<1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult;

HPO:

32
muscular dystrophy, limb-girdle, type 2e:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset

muscular dystrophy, limb-girdle, type 2s:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

ICD10 33 G71.0
ICD10 via Orphanet 34 G71.0
MeSH 42 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2e

UniProtKB/Swiss-Prot : 66 Limb-girdle muscular dystrophy 2E: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. Limb-girdle muscular dystrophy 2S: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. Limb-girdle muscular dystrophy 2Y: An autosomal recessive form of limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2Y is characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2e, also known as beta-sarcoglycanopathy, is related to calpainopathy and muscular dystrophy, limb-girdle, type 2a, and has symptoms including ataxia, myalgia and tremor. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2e is SGCB (Sarcoglycan Beta), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy. Related phenotype is muscle.

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

OMIM : 54 LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in... (615356) more...

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2e

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
id Related Disease Score Top Affiliating Genes
1 calpainopathy 10.8
2 muscular dystrophy, limb-girdle, type 2a 10.8
3 nephronophthisis 2, infantile 10.2 FKRP TRAPPC11
4 sporadic hemiplegic migraine 10.2 CAPN3 FKRP
5 short-rib thoracic dysplasia 8 with or without polydactyly 10.1 FKRP TRAPPC11
6 rippling muscle disease 10.1 DYSF FKRP
7 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.1 CAPN3 DYSF
8 sarcoglycanopathies 10.1
9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.1 DYSF FKRP
10 cerebral hemorrhage 10.0 CAPN3 DYSF SGCB
11 ehlers-danlos syndrome, kyphoscoliotic form 10.0 CAPN3 DYSF
12 creatine phosphokinase, elevated serum 10.0 DYSF TTN
13 myopathy, spheroid body 10.0 CAPN3 FKRP TRIM32
14 deafness, autosomal recessive 18b 10.0 DYSF FKRP TRAPPC11
15 myopathy, early-onset, with fatal cardiomyopathy 10.0 CAPN3 FKRP TTN
16 lyme disease 9.9 CAPN3 DYSF TTN
17 autosomal recessive limb-girdle muscular dystrophy 9.9
18 muscular dystrophy 9.9
19 limb-girdle muscular dystrophy 9.9
20 muscular dystrophy, rigid spine, 1 9.9 DYSF TTN
21 vulvar eccrine adenocarcinoma 9.9 CAPN3 DYSF TTN
22 ullrich congenital muscular dystrophy 1 9.9 CAPN3 DYSF
23 prosthetic joint infection 9.9 FKRP SGCA
24 myasthenia gravis, limb-girdle 9.9 FKRP SGCA
25 sdhc-related paraganglioma and gastric stromal sarcoma 9.8 DYSF SGCA SGCB
26 myoglobinuria 9.8
27 pancreatic agenesis 1 9.8 CAPN3 DYSF SGCA
28 immunodeficiency 34, mycobacteriosis, x-linked 9.8 SGCA SGCB TTN
29 thrombocytopenia, x-linked 9.8 DYSF FKRP SGCA
30 walker-warburg syndrome 9.8
31 autosomal recessive limb-girdle muscular dystrophy type 2x 9.7 CAPN3 DYSF FKRP SGCA
32 cerebral angioma 9.6 CAPN3 DYSF FKRP SGCA
33 neurodegeneration with brain iron accumulation 6 9.6 CAPN3 DYSF FKRP TCAP TRIM32
34 asthma-related traits 6 9.5 CAPN3 DYSF FKRP SGCA SGCB
35 emery-dreifuss muscular dystrophy, dominant type 9.5 FKRP SGCA TCAP TTN
36 congenital heart defects, multiple types, 3 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
37 autosomal dominant limb-girdle muscular dystrophy type 1c 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
38 charcot-marie-tooth disease, type 2b2 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
39 malignant hyperthermia susceptibility 9.3 CAPN3 DYSF SGCA SGCB TCAP TRIM32
40 autosomal recessive limb-girdle muscular dystrophy type 2w 9.3 CAPN3 DYSF FKRP SGCA TCAP TRIM32
41 central corneal ulcer 9.1 CAPN3 DYSF FKRP SGCA SGCB TCAP
42 spinocerebellar ataxia 11 9.1 CAPN3 DYSF FKRP SGCA TCAP TRIM32
43 autosomal recessive limb-girdle muscular dystrophy type 2h 9.1 CAPN3 DYSF FKRP SGCA TCAP TRIM32
44 myopathy, distal, with anterior tibial onset 8.9 CAPN3 DYSF FKRP SGCA SGCB TCAP
45 hypereosinophilic syndrome, idiopathic, resistant to imatinib 8.7 CAPN3 DYSF FKRP SGCA SGCB TCAP

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2e:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2e

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2e

Symptoms by clinical synopsis from OMIM:

604286 615356

Clinical features from OMIM:

604286 615356

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2e:

32 (show all 27)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 myalgia 32 HP:0003326
3 tremor 32 HP:0001337
4 athetosis 32 HP:0002305
5 dystonia 32 HP:0001332
6 muscular hypotonia 32 HP:0001252
7 chorea 32 HP:0002072
8 scoliosis 32 HP:0002650
9 cataract 32 HP:0000518
10 global developmental delay 32 HP:0001263
11 hip dysplasia 32 HP:0001385
12 microcephaly 32 HP:0000252
13 short stature 32 HP:0004322
14 elevated serum creatine phosphokinase 32 HP:0003236
15 strabismus 32 HP:0000486
16 scapular winging 32 HP:0003691
17 myopia 32 HP:0000545
18 muscle cramps 32 HP:0003394
19 muscular dystrophy 32 HP:0003560
20 dilated cardiomyopathy 32 HP:0001644
21 proximal amyotrophy 32 HP:0007126
22 proximal muscle weakness 32 HP:0003701
23 shoulder girdle muscle atrophy 32 HP:0003724
24 calf muscle pseudohypertrophy 32 HP:0003707
25 limb-girdle muscular dystrophy 32 HP:0006785
26 limb-girdle muscle weakness 32 HP:0003325
27 pelvic girdle muscle atrophy 32 HP:0008988

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 2e:


ataxia, athetosis, muscle cramp, tremor, myalgia, waddling gait

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2e:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAPN3 DYSF FKRP SGCA SGCB TCAP

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2e

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2e

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2e

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2e:

id Genetic test Affiliating Genes
1 Beta-Sarcoglycanopathy 29 24 SGCB
2 Limb-Girdle Muscular Dystrophy, Type 2e 29
3 Limb-Girdle Muscular Dystrophy, Type 2s 29
4 Muscular Dystrophy, Limb-Girdle, Type 2y 29
5 Limb-Girdle Muscular Dystrophy Type 2s 24 TRAPPC11
6 Limb-Girdle Muscular Dystrophy Type 2y 24 TOR1AIP1

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2e

Publications for Muscular Dystrophy, Limb-Girdle, Type 2e

Variations for Muscular Dystrophy, Limb-Girdle, Type 2e

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2e:

66
id Symbol AA change Variation ID SNP ID
1 SGCB p.Arg91Leu VAR_010391 rs104893869
2 SGCB p.Arg91Pro VAR_010392 rs28936384
3 SGCB p.Met100Lys VAR_010393 rs28936386
4 SGCB p.Leu108Arg VAR_010394 rs104893870
5 SGCB p.Thr151Arg VAR_010395 rs28936383
6 SGCB p.Arg91Cys VAR_010422 rs555514820
7 SGCB p.Ile119Phe VAR_010424 rs762412447
8 SGCB p.Gly167Ser VAR_010426 rs779516489
9 TRAPPC11 p.Gly980Arg VAR_070158 rs397509417

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2e:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 SGCB NM_000232.4(SGCB): c.452C> G (p.Thr151Arg) single nucleotide variant Pathogenic rs28936383 GRCh37 Chromosome 4, 52895065: 52895065
2 SGCB NM_000232.4(SGCB): c.552T> G (p.Tyr184Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893868 GRCh37 Chromosome 4, 52894965: 52894965
3 SGCB SGCB, 8-BP DUP, NT383 duplication Pathogenic
4 SGCB SGCB, 2-BP DEL, NT465 deletion Pathogenic
5 SGCB NM_000232.4(SGCB): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
6 SGCB NM_000232.4(SGCB): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic rs104893870 GRCh37 Chromosome 4, 52895950: 52895950
7 SGCB NM_000232.4(SGCB): c.299T> A (p.Met100Lys) single nucleotide variant Pathogenic rs104893871 GRCh37 Chromosome 4, 52895974: 52895974
8 SGCB NM_000232.4(SGCB): c.272G> T (p.Arg91Leu) single nucleotide variant Pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
9 SGCB SGCB, 4-BP DEL, 243+3GAGT deletion Pathogenic
10 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic rs150518260 GRCh37 Chromosome 4, 52895932: 52895932
11 TRAPPC11 NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg) single nucleotide variant Pathogenic rs397509417 GRCh37 Chromosome 4, 184622936: 184622936
12 TRAPPC11 NM_021942.5(TRAPPC11): c.1287+5G> A single nucleotide variant Pathogenic rs397509418 GRCh37 Chromosome 4, 184605212: 184605212
13 SGCB NM_000232.4(SGCB): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs398123262 GRCh37 Chromosome 4, 52904425: 52904425
14 SGCB NM_000232.4(SGCB): c.32dupA (p.Gln12Alafs) duplication Pathogenic rs796065319 GRCh37 Chromosome 4, 52904394: 52904394
15 TOR1AIP1; TOR1AIP2 NM_001267578.1(TOR1AIP1): c.186delG (p.Glu62Aspfs) deletion Pathogenic rs879255612 GRCh38 Chromosome 1, 179882688: 179882688
16 TRAPPC11 NM_021942.5(TRAPPC11): c.661-1G> T single nucleotide variant Pathogenic rs886041052 GRCh38 Chromosome 4, 183675163: 183675163
17 TRAPPC11 NM_021942.5(TRAPPC11): c.1893+3A> G single nucleotide variant Pathogenic rs886041053 GRCh38 Chromosome 4, 183686751: 183686751
18 SGCB NM_000232.4(SGCB): c.1_2delAT (p.Met1Glyfs) deletion Pathogenic rs886042503 GRCh37 Chromosome 4, 52904424: 52904425
19 SGCB NM_000232.4(SGCB): c.572delT (p.Leu191Cysfs) deletion Pathogenic rs886042546 GRCh37 Chromosome 4, 52894945: 52894945
20 SGCB NM_000232.4(SGCB): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752492870 GRCh37 Chromosome 4, 52904395: 52904395
21 SGCB NM_000232.4(SGCB): c.699_702delCATT (p.Phe233Leufs) deletion Likely pathogenic rs1057516515 GRCh38 Chromosome 4, 52028019: 52028022
22 SGCB NM_000232.4(SGCB): c.622-2A> G single nucleotide variant Likely pathogenic rs780596734 GRCh37 Chromosome 4, 52894267: 52894267
23 SGCB NM_000232.4(SGCB): c.551_552delAT (p.Tyr184Terfs) deletion Likely pathogenic rs1057517051 GRCh38 Chromosome 4, 52028799: 52028800
24 SGCB NM_000232.4(SGCB): c.216_219delGTTT (p.Phe73Serfs) deletion Likely pathogenic rs1057516360 GRCh37 Chromosome 4, 52899621: 52899624
25 SGCB NM_000232.4(SGCB): c.85A> T (p.Arg29Ter) single nucleotide variant Likely pathogenic rs747809412 GRCh37 Chromosome 4, 52899755: 52899755
26 SGCB NM_000232.4(SGCB): c.29_33delAACAG (p.Glu10Alafs) deletion Likely pathogenic rs1057517064 GRCh38 Chromosome 4, 52038227: 52038231
27 SGCB NM_000232.4(SGCB): c.-15_8del23 deletion Likely pathogenic rs1057517205 GRCh37 Chromosome 4, 52904418: 52904440
28 TRAPPC11 NM_199053.2(TRAPPC11): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic rs150331292 GRCh37 Chromosome 4, 184585162: 184585162

Expression for Muscular Dystrophy, Limb-Girdle, Type 2e

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2e.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2e

Pathways related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 CAPN3 SGCA SGCB
2
Show member pathways
11.04 SGCA SGCB TTN

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2e

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.5 CAPN3 TCAP TTN
2 T-tubule GO:0030315 9.4 CAPN3 DYSF
3 I band GO:0031674 9.37 TCAP TTN
4 sarcoglycan complex GO:0016012 9.26 SGCA SGCB
5 sarcolemma GO:0042383 9.26 DYSF FKRP SGCA SGCB
6 dystroglycan complex GO:0016011 9.16 SGCA SGCB
7 dystrophin-associated glycoprotein complex GO:0016010 8.8 FKRP SGCA SGCB

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.71 SGCA SGCB TRAPPC11
2 muscle contraction GO:0006936 9.63 DYSF SGCA TTN
3 muscle organ development GO:0007517 9.61 CAPN3 SGCA SGCB
4 response to calcium ion GO:0051592 9.57 CAPN3 TTN
5 cardiac muscle contraction GO:0060048 9.56 TCAP TTN
6 muscle filament sliding GO:0030049 9.55 TCAP TTN
7 positive regulation of proteolysis GO:0045862 9.52 CAPN3 TRIM32
8 muscle cell cellular homeostasis GO:0046716 9.51 CAPN3 TRIM32
9 cardiac muscle tissue morphogenesis GO:0055008 9.49 TCAP TTN
10 cardiac myofibril assembly GO:0055003 9.48 TCAP TTN
11 cardiac muscle fiber development GO:0048739 9.4 TCAP TTN
12 cardiac muscle hypertrophy GO:0003300 9.37 TCAP TTN
13 skeletal muscle thin filament assembly GO:0030240 9.32 TCAP TTN
14 detection of muscle stretch GO:0035995 9.26 TCAP TTN
15 skeletal muscle myosin thick filament assembly GO:0030241 9.16 TCAP TTN
16 sarcomerogenesis GO:0048769 8.96 TCAP TTN
17 sarcomere organization GO:0045214 8.8 CAPN3 TCAP TTN

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 CAPN3 DYSF SGCA TTN
2 protein self-association GO:0043621 9.26 TRIM32 TTN
3 titin binding GO:0031432 8.96 CAPN3 TCAP
4 structural constituent of muscle GO:0008307 8.8 CAPN3 TCAP TTN

Sources for Muscular Dystrophy, Limb-Girdle, Type 2e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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