MDDGC2
MCID: MSC108
MIFTS: 37

Muscular Dystrophy-Dystroglycanopathy , Type C, 2 (MDDGC2)

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 2 57 53 75 13 73
Lgmd2n 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n 12 53 59 15
Mddgc2 57 12 75
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related 57 53
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related 12 75
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C2 29 6
Limb-Girdle Muscular Dystrophy Type 2n 53 75
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14; Lgmdr14 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2 75
Muscular Dystrophy, Limb-Girdle, Type 2n; Lgmd2n 57
Muscular Dystrophy-Dystroglycanopathy Type C 2 12
Dystrophy, Muscular, Limb-Girdle, Type 2n ) 40
Muscular Dystrophy, Limb-Girdle, Type 2n 57
Lgmdr14 57
Mdgd2c 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2n
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable severity
two patients have been reported


HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 2:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613158
Disease Ontology 12 DOID:0110298
ICD10 33 G71.0
Orphanet 59 ORPHA206559
ICD10 via Orphanet 34 G71.0
MedGen 42 C3150418
MeSH 44 D049288
UMLS 73 C3150418

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

OMIM : 57 MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (613158)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 2, also known as lgmd2n, is related to muscular dystrophy-dystroglycanopathy and autosomal recessive limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 2 is POMT2 (Protein O-Mannosyltransferase 2), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are elevated serum creatine phosphokinase and motor delay

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy limb-girdle C2: An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha- dystroglycan. Cognition is normal.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy 10.1 POMT1 POMT2
2 autosomal recessive limb-girdle muscular dystrophy 10.1 ANO5 POMT1
3 congenital muscular dystrophy with intellectual disability 10.1 POMT1 POMT2
4 congenital muscular dystrophy with cerebellar involvement 10.1 POMT1 POMT2
5 muscular dystrophy-dystroglycanopathy , type a, 1 10.0 POMT1 POMT2
6 muscular dystrophy-dystroglycanopathy , type a, 4 10.0 POMT1 POMT2
7 muscular dystrophy-dystroglycanopathy , type b, 6 10.0 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 POMT1 POMT2
9 glaucoma 3, primary congenital, a 10.0 POMT1 POMT2
10 muscle eye brain disease 9.9 POMT1 POMT2
11 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 ANO5 POMT1 POMT2
12 muscular dystrophy, congenital, lmna-related 9.9 POMT1 POMT2
13 muscular dystrophy-dystroglycanopathy , type c, 4 9.9 ANO5 POMT1 POMT2
14 muscular dystrophy, limb-girdle, type 1h 9.9 HNRNPDL TNPO3
15 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 HNRNPDL TNPO3
16 autosomal dominant limb-girdle muscular dystrophy type 1f 9.9 HNRNPDL TNPO3
17 autosomal dominant limb-girdle muscular dystrophy type 1b 9.9 HNRNPDL TNPO3
18 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 HNRNPDL TNPO3
19 muscular disease 9.9 ANO5 POMT1 POMT2
20 walker-warburg syndrome 9.8 POMT1 POMT2
21 autosomal recessive limb-girdle muscular dystrophy type 2w 9.7 HNRNPDL TNPO3 TRAPPC11
22 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 HNRNPDL TNPO3 TRAPPC11
23 muscular dystrophy-dystroglycanopathy , type c, 9 9.7 HNRNPDL TNPO3 TRAPPC11
24 muscular dystrophy-dystroglycanopathy , type c, 14 9.7 HNRNPDL TNPO3 TRAPPC11
25 muscular dystrophy-dystroglycanopathy , type c, 7 9.7 HNRNPDL TNPO3 TRAPPC11
26 autosomal recessive limb-girdle muscular dystrophy type 2r 9.7 HNRNPDL TNPO3 TRAPPC11
27 muscular dystrophy, limb-girdle, autosomal dominant 1 9.7 HNRNPDL TNPO3 TRAPPC11
28 muscular dystrophy-dystroglycanopathy , type c, 3 9.5 ANO5 HNRNPDL TNPO3 TRAPPC11
29 limb-girdle muscular dystrophy 9.3 ANO5 HNRNPDL POMT1 TNPO3 TRAPPC11
30 muscular dystrophy-dystroglycanopathy , type c, 1 9.2 ANO5 HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
31 muscular dystrophy 9.2 ANO5 HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 2

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscular dystrophy
muscle hypertrophy
decreased glycosylation of alpha-dystroglycan
muscle weakness, proximal, mild

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
delayed motor development
decreased iq (1 patient)
normal cognition (1 patient)

Cardiovascular Heart:
right bundle branch block (1 patient)


Clinical features from OMIM:

613158

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 motor delay 32 HP:0001270
3 proximal muscle weakness 32 HP:0003701
4 skeletal muscle hypertrophy 32 HP:0003712
5 muscular dystrophy 32 HP:0003560
6 right bundle branch block 32 occasional (7.5%) HP:0011712

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C2 29 POMT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

41
Eye, Skeletal Muscle, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

75
# Symbol AA change Variation ID SNP ID
1 POMT2 p.Thr184Met VAR_065037 rs267606971
2 POMT2 p.Trp748Ser VAR_065049 rs267606967

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 2:

6 (show top 50) (show all 197)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMT2 NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs119463989 GRCh37 Chromosome 14, 77745192: 77745192
2 POMT2 NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs119463989 GRCh38 Chromosome 14, 77278849: 77278849
3 POMT2 NM_013382.5(POMT2): c.1006+1G> A single nucleotide variant Pathogenic rs533916138 GRCh37 Chromosome 14, 77765031: 77765031
4 POMT2 NM_013382.5(POMT2): c.1006+1G> A single nucleotide variant Pathogenic rs533916138 GRCh38 Chromosome 14, 77298688: 77298688
5 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
6 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh38 Chromosome 14, 77278764: 77278764
7 POMT2 NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg) single nucleotide variant Uncertain significance rs267606964 GRCh37 Chromosome 14, 77743730: 77743730
8 POMT2 NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg) single nucleotide variant Uncertain significance rs267606964 GRCh38 Chromosome 14, 77277387: 77277387
9 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
10 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh38 Chromosome 14, 77302898: 77302898
11 POMT2 NM_013382.5(POMT2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic rs267606971 GRCh37 Chromosome 14, 77769283: 77769283
12 POMT2 NM_013382.5(POMT2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic rs267606971 GRCh38 Chromosome 14, 77302940: 77302940
13 POMT2 NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs267606967 GRCh37 Chromosome 14, 77743729: 77743729
14 POMT2 NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs267606967 GRCh38 Chromosome 14, 77277386: 77277386
15 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 GRCh37 Chromosome 14, 77762578: 77762578
16 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 GRCh38 Chromosome 14, 77296235: 77296235
17 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 NCBI36 Chromosome 14, 76832331: 76832331
18 POMT2 NM_013382.5(POMT2): c.1417C> T (p.Arg473Ter) single nucleotide variant Pathogenic rs368817785 GRCh37 Chromosome 14, 77751891: 77751891
19 POMT2 NM_013382.5(POMT2): c.1417C> T (p.Arg473Ter) single nucleotide variant Pathogenic rs368817785 GRCh38 Chromosome 14, 77285548: 77285548
20 POMT2 NM_013382.5(POMT2): c.232G> C (p.Glu78Gln) single nucleotide variant Uncertain significance rs151103906 GRCh37 Chromosome 14, 77786793: 77786793
21 POMT2 NM_013382.5(POMT2): c.232G> C (p.Glu78Gln) single nucleotide variant Uncertain significance rs151103906 GRCh38 Chromosome 14, 77320450: 77320450
22 POMT2 NM_013382.5(POMT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs368034790 GRCh37 Chromosome 14, 77778332: 77778332
23 POMT2 NM_013382.5(POMT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs368034790 GRCh38 Chromosome 14, 77311989: 77311989
24 POMT2 NM_013382.5(POMT2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs398124264 GRCh37 Chromosome 14, 77778305: 77778305
25 POMT2 NM_013382.5(POMT2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs398124264 GRCh38 Chromosome 14, 77311962: 77311962
26 POMT2 NM_013382.5(POMT2): c.924-10C> T single nucleotide variant Benign/Likely benign rs142122657 GRCh37 Chromosome 14, 77765124: 77765124
27 POMT2 NM_013382.5(POMT2): c.924-10C> T single nucleotide variant Benign/Likely benign rs142122657 GRCh38 Chromosome 14, 77298781: 77298781
28 POMT2 NM_013382.5(POMT2): c.1911G> T (p.Leu637=) single nucleotide variant Benign rs3209079 GRCh38 Chromosome 14, 77278850: 77278850
29 POMT2 NM_013382.5(POMT2): c.1911G> T (p.Leu637=) single nucleotide variant Benign rs3209079 GRCh37 Chromosome 14, 77745193: 77745193
30 POMT2 NM_013382.5(POMT2): c.1006+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs587780422 GRCh37 Chromosome 14, 77765027: 77765027
31 POMT2 NM_013382.5(POMT2): c.1006+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs587780422 GRCh38 Chromosome 14, 77298684: 77298684
32 POMT2 NM_013382.5(POMT2): c.161C> A (p.Ala54Glu) single nucleotide variant Benign/Likely benign rs8177536 GRCh37 Chromosome 14, 77786864: 77786864
33 POMT2 NM_013382.5(POMT2): c.161C> A (p.Ala54Glu) single nucleotide variant Benign/Likely benign rs8177536 GRCh38 Chromosome 14, 77320521: 77320521
34 POMT2 NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys) single nucleotide variant Likely pathogenic rs587780423 GRCh37 Chromosome 14, 77765840: 77765840
35 POMT2 NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys) single nucleotide variant Likely pathogenic rs587780423 GRCh38 Chromosome 14, 77299497: 77299497
36 POMT2 NM_013382.5(POMT2): c.1383A> G (p.Arg461=) single nucleotide variant Benign rs2270419 GRCh37 Chromosome 14, 77751925: 77751925
37 POMT2 NM_013382.5(POMT2): c.1383A> G (p.Arg461=) single nucleotide variant Benign rs2270419 GRCh38 Chromosome 14, 77285582: 77285582
38 POMT2 NM_013382.5(POMT2): c.2175C> T (p.Tyr725=) single nucleotide variant Benign rs116434191 GRCh37 Chromosome 14, 77743797: 77743797
39 POMT2 NM_013382.5(POMT2): c.2175C> T (p.Tyr725=) single nucleotide variant Benign rs116434191 GRCh38 Chromosome 14, 77277454: 77277454
40 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Uncertain significance rs727502855 GRCh38 Chromosome 14, 77286815: 77286815
41 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Uncertain significance rs727502855 GRCh37 Chromosome 14, 77753158: 77753158
42 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh37 Chromosome 14, 77746777: 77746777
43 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh38 Chromosome 14, 77280434: 77280434
44 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh37 Chromosome 14, 77753157: 77753157
45 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh38 Chromosome 14, 77286814: 77286814
46 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh37 Chromosome 14, 77751904: 77751904
47 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh38 Chromosome 14, 77285561: 77285561
48 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh37 Chromosome 14, 77746759: 77746759
49 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh38 Chromosome 14, 77280416: 77280416
50 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 GRCh37 Chromosome 14, 77746176: 77746176

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 2.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.32 POMT1 POMT2
2 9.97 POMT1 POMT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.32 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.26 POMT1 POMT2
3 mannosylation GO:0097502 9.16 POMT1 POMT2
4 protein O-linked mannosylation GO:0035269 8.96 POMT1 POMT2
5 positive regulation of protein O-linked glycosylation GO:1904100 8.62 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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