MCID: MSC035
MIFTS: 49

Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 57 12 13
Mdc1c 57 12 75 55
Mddgb5 57 12 75
Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 29 6
Muscular Dystrophy-Dystroglycanopathy Type B5 12 15
Muscular Dystrophy, Congenital, 1c 57 73
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 75
Dystrophy, Muscular, Dystroglycanopathy , Type B5 40
Muscular Dystrophy, Congenital, Fkrp-Related 57
Fkrp-Related Congenital Muscular Dystrophy 12
Muscular Dystrophy, Congenital, 1c; Mdc1c 57
Muscular Dystrophy Congenital Type 1c 75
Congenital Muscular Dystrophy Type 1c 37
Congenital Muscular Dystrophy 1c 12
Muscular Dystrophy Fkrp-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
variable age of onset (range 1-40 years)
some patients never gain ambulation or become wheelchair-bound


HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 5:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

OMIM : 57 MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (606612)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 5, also known as mdc1c, is related to muscular dystrophy, congenital, lmna-related and limb-girdle muscular dystrophy, and has symptoms including muscle cramp, myalgia and facial paresis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism of proteins. Affiliated tissues include brain and testes, and related phenotypes are macroglossia and microcephaly

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 28.1 DAG1 FKRP FKTN LAMA2 LMNA POMGNT1
2 limb-girdle muscular dystrophy 27.1 CAV3 DMD FKRP FKTN LMNA POMGNT1
3 muscular dystrophy-dystroglycanopathy , type a, 4 27.0 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
4 muscular dystrophy 24.3 AGRN CAV3 DAG1 DMD FKRP FKTN
5 muscular dystrophy-dystroglycanopathy , type a, 5 11.4
6 congenital muscular dystrophy without intellectual disability 10.5 FKRP FKTN POMT1
7 muscular dystrophy-dystroglycanopathy , type c, 1 10.5 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type c, 2 10.5 POMT1 POMT2
9 congenital nervous system abnormality 10.4 FKTN POMGNT1 POMT1
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.4 FKRP LAMA2 POMGNT2
11 muscular dystrophy, limb-girdle, type 1c 10.4 CAV3 FKRP
12 muscular dystrophy-dystroglycanopathy , type c, 4 10.4 FKRP FKTN POMT2
13 congenital muscular dystrophy with intellectual disability 10.4 FKRP POMT1 POMT2
14 polyglucosan body myopathy 1 with or without immunodeficiency 10.4 DMD FKRP
15 autosomal dominant limb-girdle muscular dystrophy type 1c 10.3 CAV3 FKRP
16 lissencephaly 10.3 DAG1 FKRP FKTN
17 muscular dystrophy, limb-girdle, type 1e 10.2 CAV3 FKRP
18 ablepharon-macrostomia syndrome 10.2 FKRP FKTN POMGNT1 POMT1
19 muscular dystrophy, limb-girdle, type 1a 10.2 CAV3 FKRP
20 muscular dystrophy, limb-girdle, type 2c 10.2 DAG1 DMD
21 autosomal recessive limb-girdle muscular dystrophy 10.1 DMD FKRP POMT1
22 muscular dystrophy-dystroglycanopathy , type a, 1 10.1 FKRP FKTN POMT1 POMT2
23 muscular dystrophy, becker type 10.1 DMD FKTN LAMA2
24 muscular dystrophy, limb-girdle, type 2l 10.1 FKRP FKTN POMT1 POMT2
25 congenital muscular dystrophy with cerebellar involvement 10.1 FKRP POMGNT1 POMT1 POMT2
26 myopathy, x-linked, with excessive autophagy 10.1 DMD LAMA2
27 muscular dystrophy, limb-girdle, type 2f 10.0 DMD FKRP
28 cardiomyopathy, dilated, 1d 10.0 DAG1 DMD LAMA2
29 muscular dystrophy, limb-girdle, type 2b 9.8 CAV3 DMD FKRP
30 creatine phosphokinase, elevated serum 9.8 CAV3 DMD LAMA2
31 cardiomyopathy, dilated, 1b 9.8 DAG1 DMD FKTN LAMA2
32 muscular dystrophy-dystroglycanopathy 9.7 FKRP POMGNT1 POMGNT2 POMT1 POMT2
33 isolated hyperckemia 9.6 CAV3 DMD FKRP LAMA2
34 muscular dystrophy, limb-girdle, type 1b 9.6 CAV3 LMNA
35 muscular dystrophy, congenital, 1b 9.5 DAG1 DMD FKRP FKTN LAMA2
36 atrial standstill 1 9.4 DMD FKRP LMNA
37 distal muscular dystrophy 9.3 CAV3 DMD
38 autosomal dominant limb-girdle muscular dystrophy 9.2 CAV3 LMNA
39 cardiomyopathy, dilated, 1a 9.1 DAG1 DMD LAMA2 LMNA
40 dilated cardiomyopathy 8.5 DAG1 DMD FKRP FKTN LAMA2 LMNA
41 muscular dystrophy, congenital merosin-deficient, 1a 8.3 AGRN DAG1 DMD FKTN LAMA2 LMNA
42 muscle eye brain disease 8.1 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
43 myopathy 8.1 CAV3 DAG1 DMD FKRP LAMA2 LMNA
44 muscle tissue disease 8.0 CAV3 DAG1 DMD FKRP FKTN LAMA2
45 muscular dystrophy-dystroglycanopathy , type b, 6 7.5 AGRN DAG1 DMD FKRP FKTN LAMA2
46 walker-warburg syndrome 7.1 AGRN DAG1 DMD FKRP FKTN LAMA2

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 5

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
lordosis
spinal fusion

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Head:
microcephaly (less common)

Skeletal Feet:
achilles tendon contractures

Muscle Soft Tissue:
neonatal hypotonia
generalized muscle weakness
myalgia
muscle cramps
difficulty walking
more
Neurologic Central Nervous System:
cerebellar atrophy
mental retardation
cerebellar cysts
pachygyria (rare)
some patients have neurologic involvement
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
facial weakness


Clinical features from OMIM:

606612

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 microcephaly 32 HP:0000252
3 intellectual disability 32 HP:0001249
4 cerebellar atrophy 32 HP:0001272
5 pachygyria 32 occasional (7.5%) HP:0001302
6 neonatal hypotonia 32 HP:0001319
7 achilles tendon contracture 32 HP:0001771
8 restrictive deficit on pulmonary function testing 32 HP:0002111
9 ventriculomegaly 32 occasional (7.5%) HP:0002119
10 delayed gross motor development 32 HP:0002194
11 cerebellar cyst 32 HP:0002350
12 difficulty walking 32 HP:0002355
13 frequent falls 32 HP:0002359
14 abnormality of the cerebral white matter 32 HP:0002500
15 scoliosis 32 HP:0002650
16 kyphosis 32 HP:0002808
17 vertebral fusion 32 HP:0002948
18 elevated serum creatine phosphokinase 32 HP:0003236
19 hyperlordosis 32 HP:0003307
20 generalized muscle weakness 32 HP:0003324
21 myalgia 32 HP:0003326
22 muscle cramps 32 HP:0003394
23 emg 32 HP:0003458
24 shoulder girdle muscle weakness 32 HP:0003547
25 difficulty climbing stairs 32 HP:0003551
26 proximal muscle weakness 32 HP:0003701
27 shoulder girdle muscle atrophy 32 HP:0003724
28 thigh hypertrophy 32 HP:0003733
29 congenital muscular dystrophy 32 HP:0003741
30 proximal amyotrophy 32 HP:0007126
31 feeding difficulties in infancy 32 HP:0008872
32 calf muscle hypertrophy 32 HP:0008981
33 facial palsy 32 HP:0010628
34 toe walking 32 HP:0040083

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:


muscle cramp, myalgia, facial paresis, generalized muscle weakness

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 AGRN CANX DAG1 DMD FKRP FKTN
2 cellular MP:0005384 10.14 POMT2 CAV3 DAG1 DMD FKRP FKTN
3 behavior/neurological MP:0005386 10.11 DAG1 DMD FKRP FKTN LAMA2 LMNA
4 cardiovascular system MP:0005385 10.09 AGRN CAV3 DAG1 DMD FKRP GLG1
5 homeostasis/metabolism MP:0005376 10.06 AGRN CAV3 DAG1 DMD FKRP FKTN
6 mortality/aging MP:0010768 9.97 AGRN CANX DAG1 DMD FKRP FKTN
7 immune system MP:0005387 9.91 CANX CAV3 DMD FKRP FKTN GLG1
8 muscle MP:0005369 9.65 POMGNT1 POMT1 AGRN CAV3 DAG1 DMD
9 nervous system MP:0003631 9.36 CANX DAG1 DMD FKRP FKTN LAMA2

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 29

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

41
Brain, Testes

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

75 (show all 13)
# Symbol AA change Variation ID SNP ID
1 FKRP p.Pro217Thr VAR_018283
2 FKRP p.Ser221Arg VAR_018284 rs28937902
3 FKRP p.Tyr309Cys VAR_018286 rs104894679
4 FKRP p.Pro315Thr VAR_018288
5 FKRP p.Pro316Arg VAR_018289 rs752582904
6 FKRP p.Tyr328Ser VAR_018290
7 FKRP p.Arg339His VAR_018292
8 FKRP p.Asp401Asn VAR_018293
9 FKRP p.Pro448Leu VAR_018294 rs104894681
10 FKRP p.Tyr465Ser VAR_018295
11 FKRP p.Val405Leu VAR_022854 rs28937904
12 FKRP p.Ala455Asp VAR_022855 rs28937903
13 FKRP p.Asn463Asp VAR_065063 rs121908110

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs104894679 GRCh37 Chromosome 19, 47259633: 47259633
2 FKRP NM_024301.4(FKRP): c.926A> G (p.Tyr309Cys) single nucleotide variant Pathogenic rs104894679 GRCh38 Chromosome 19, 46756376: 46756376
3 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh37 Chromosome 19, 47259861: 47259861
4 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh38 Chromosome 19, 46756604: 46756604
5 FKRP NM_024301.4(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Likely pathogenic rs104894681 GRCh37 Chromosome 19, 47260050: 47260050
6 FKRP NM_024301.4(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Likely pathogenic rs104894681 GRCh38 Chromosome 19, 46756793: 46756793
7 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
8 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
9 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
10 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
11 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh37 Chromosome 19, 47259648: 47259648
12 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh38 Chromosome 19, 46756391: 46756391
13 FKRP NM_024301.4(FKRP): c.162_165dupGGAG (p.Phe56Glyfs) duplication Pathogenic rs886042506 GRCh37 Chromosome 19, 47258869: 47258872
14 FKRP NM_024301.4(FKRP): c.162_165dupGGAG (p.Phe56Glyfs) duplication Pathogenic rs886042506 GRCh38 Chromosome 19, 46755612: 46755615
15 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 47258835: 47258835
16 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 46755578: 46755578

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 5.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to KEGG:

37
# Name Kegg Source Accession
1 Mannose type O-glycan biosynthesis hsa00515

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.91 CANX CAV3 FKRP FKTN POMGNT2 POMT1
2 Golgi apparatus GO:0005794 9.8 CAV3 DMD FKRP FKTN GLG1 MGAT4C
3 Golgi membrane GO:0000139 9.63 CAV3 FKRP FKTN GLG1 MGAT4C POMGNT1
4 costamere GO:0043034 9.46 DAG1 DMD
5 basal lamina GO:0005605 9.43 AGRN LAMA2
6 sarcolemma GO:0042383 9.35 CAV3 DAG1 DMD FKRP LAMA2
7 dystrophin-associated glycoprotein complex GO:0016010 8.92 CAV3 DAG1 DMD FKRP
8 membrane GO:0016020 10.22 AGRN CANX CAV3 DAG1 DMD FKRP
9 integral component of membrane GO:0016021 10.1 AGRN CANX CAV3 DAG1 FKRP FKTN

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.73 CANX DAG1 DMD
2 extracellular matrix organization GO:0030198 9.73 AGRN DAG1 LAMA2 POMT1
3 regulation of heart rate GO:0002027 9.57 CAV3 DMD
4 muscle organ development GO:0007517 9.56 CAV3 DMD FKTN LAMA2
5 negative regulation of MAPK cascade GO:0043409 9.55 CAV3 DAG1
6 protein O-linked glycosylation GO:0006493 9.55 DAG1 POMGNT1 POMGNT2 POMT1 POMT2
7 skeletal muscle tissue regeneration GO:0043403 9.54 DAG1 DMD
8 muscle cell cellular homeostasis GO:0046716 9.52 CAV3 DMD
9 mannosylation GO:0097502 9.51 POMT1 POMT2
10 protein glycosylation GO:0006486 9.5 FKRP FKTN MGAT4C POMGNT1 POMGNT2 POMT1
11 ER-associated misfolded protein catabolic process GO:0071712 9.49 POMT1 POMT2
12 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DAG1 DMD
13 Schwann cell differentiation GO:0014037 9.46 DAG1 LAMA2
14 nucleus localization GO:0051647 9.4 CAV3 DMD
15 regulation of skeletal muscle contraction GO:0014819 9.37 CAV3 DMD
16 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT1 POMT2
17 protein O-linked mannosylation GO:0035269 9.02 FKRP FKTN POMGNT2 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.87 FKRP FKTN MGAT4C POMGNT1 POMGNT2 POMT1
2 acetylglucosaminyltransferase activity GO:0008375 9.46 POMGNT1 POMGNT2
3 laminin binding GO:0043236 9.43 AGRN DAG1
4 mannosyltransferase activity GO:0000030 9.4 POMT1 POMT2
5 nitric-oxide synthase binding GO:0050998 9.37 CAV3 DMD
6 transferase activity, transferring glycosyl groups GO:0016757 9.35 MGAT4C POMGNT1 POMGNT2 POMT1 POMT2
7 vinculin binding GO:0017166 9.26 DAG1 DMD
8 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
9 dystroglycan binding GO:0002162 8.8 AGRN DAG1 DMD

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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