MCID: MSC108
MIFTS: 37

Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Mental diseases, Eye diseases, Fetal 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 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-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
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:
highly variable severity
onset in infancy
two patients have been reported


HPO:

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


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 , type a, 1 and autosomal recessive limb-girdle muscular dystrophy type 2e. 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 skeletal muscle, and related phenotypes are motor delay and elevated serum creatine phosphokinase

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.

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.

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 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 C, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 POMT1 POMT2
2 autosomal recessive limb-girdle muscular dystrophy type 2e 9.9 HNRNPDL TRAPPC11
3 muscular dystrophy-dystroglycanopathy , type b, 6 9.7 POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type c, 4 9.7 HNRNPDL POMT2 TRAPPC11
5 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 POMT1 POMT2
6 muscular dystrophy, limb-girdle, type 1h 9.6 HNRNPDL TNPO3
7 autosomal dominant limb-girdle muscular dystrophy type 1c 9.5 HNRNPDL TNPO3
8 muscular dystrophy, limb-girdle, type 2l 9.5 POMT1 POMT2 TRAPPC11
9 congenital muscular dystrophy with intellectual disability 9.5 GMPPB POMT1 POMT2
10 congenital muscular dystrophy with cerebellar involvement 9.5 GMPPB POMT1 POMT2
11 muscular dystrophy, limb-girdle, type 1b 9.4 HNRNPDL TNPO3
12 muscular dystrophy-dystroglycanopathy 9.4 GMPPB POMT1 POMT2
13 muscle eye brain disease 9.4 GMPPB POMT1 POMT2
14 muscular dystrophy-dystroglycanopathy , type b, 5 9.4 POMT1 POMT2
15 walker-warburg syndrome 9.4 GMPPB POMT1 POMT2
16 autosomal dominant limb-girdle muscular dystrophy type 1g 9.2 HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy, limb-girdle, type 2q 9.2 HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy, limb-girdle, type 1f 9.1 HNRNPDL TNPO3 TRAPPC11
19 muscular dystrophy-dystroglycanopathy , type c, 9 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
20 muscular dystrophy, limb-girdle, type 2w 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
21 muscular dystrophy, limb-girdle, type 2r 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
22 muscular dystrophy-dystroglycanopathy , type c, 14 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
23 muscular dystrophy-dystroglycanopathy , type c, 7 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
24 muscular dystrophy-dystroglycanopathy , type c, 3 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
25 muscular dystrophy, limb-girdle, type 1e 8.6 GMPPB HNRNPDL TNPO3 TRAPPC11
26 limb-girdle muscular dystrophy 8.4 HNRNPDL POMT1 TNPO3 TRAPPC11
27 muscular dystrophy-dystroglycanopathy , type c, 1 7.4 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
28 muscular dystrophy 7.4 GMPPB 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
Cardiovascular Heart:
right bundle branch block (1 patient)

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

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

Laboratory Abnormalities:
increased serum creatine kinase


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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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
Skeletal Muscle

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 114)
# 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.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
8 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh38 Chromosome 14, 77302898: 77302898
9 POMT2 NM_013382.5(POMT2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic rs267606971 GRCh37 Chromosome 14, 77769283: 77769283
10 POMT2 NM_013382.5(POMT2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic rs267606971 GRCh38 Chromosome 14, 77302940: 77302940
11 POMT2 NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs267606967 GRCh37 Chromosome 14, 77743729: 77743729
12 POMT2 NM_013382.5(POMT2): c.2243G> C (p.Trp748Ser) single nucleotide variant Pathogenic rs267606967 GRCh38 Chromosome 14, 77277386: 77277386
13 POMT2 NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys) single nucleotide variant Likely pathogenic rs587780423 GRCh37 Chromosome 14, 77765840: 77765840
14 POMT2 NM_013382.5(POMT2): c.881A> G (p.Tyr294Cys) single nucleotide variant Likely pathogenic rs587780423 GRCh38 Chromosome 14, 77299497: 77299497
15 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Uncertain significance rs727502855 GRCh38 Chromosome 14, 77286815: 77286815
16 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Uncertain significance rs727502855 GRCh37 Chromosome 14, 77753158: 77753158
17 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh37 Chromosome 14, 77746777: 77746777
18 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh38 Chromosome 14, 77280434: 77280434
19 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh37 Chromosome 14, 77753157: 77753157
20 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh38 Chromosome 14, 77286814: 77286814
21 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh37 Chromosome 14, 77751904: 77751904
22 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh38 Chromosome 14, 77285561: 77285561
23 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh37 Chromosome 14, 77746759: 77746759
24 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh38 Chromosome 14, 77280416: 77280416
25 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 GRCh37 Chromosome 14, 77746176: 77746176
26 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 GRCh38 Chromosome 14, 77279833: 77279833
27 POMT2 NM_013382.5(POMT2): c.1903G> A (p.Val635Ile) single nucleotide variant Uncertain significance rs142299878 GRCh37 Chromosome 14, 77745201: 77745201
28 POMT2 NM_013382.5(POMT2): c.1903G> A (p.Val635Ile) single nucleotide variant Uncertain significance rs142299878 GRCh38 Chromosome 14, 77278858: 77278858
29 POMT2 NM_013382.5(POMT2): c.652G> A (p.Asp218Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140785104 GRCh37 Chromosome 14, 77769182: 77769182
30 POMT2 NM_013382.5(POMT2): c.652G> A (p.Asp218Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140785104 GRCh38 Chromosome 14, 77302839: 77302839
31 POMT2 NM_013382.5(POMT2): c.1537A> G (p.Asn513Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117173425 GRCh38 Chromosome 14, 77284989: 77284989
32 POMT2 NM_013382.5(POMT2): c.1537A> G (p.Asn513Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117173425 GRCh37 Chromosome 14, 77751332: 77751332
33 POMT2 NM_013382.5(POMT2): c.1170_1171delTA (p.His390Glnfs) deletion no interpretation for the single variant rs764210532 GRCh38 Chromosome 14, 77291326: 77291327
34 POMT2 NM_013382.5(POMT2): c.1170_1171delTA (p.His390Glnfs) deletion no interpretation for the single variant rs764210532 GRCh37 Chromosome 14, 77757669: 77757670
35 POMT2 NM_013382.5(POMT2): c.1250A> G (p.Lys417Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147268052 GRCh38 Chromosome 14, 77288765: 77288765
36 POMT2 NM_013382.5(POMT2): c.1250A> G (p.Lys417Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147268052 GRCh37 Chromosome 14, 77755108: 77755108
37 POMT2 NM_013382.5(POMT2): c.1920C> T (p.Gly640=) single nucleotide variant Uncertain significance rs150755807 GRCh37 Chromosome 14, 77745184: 77745184
38 POMT2 NM_013382.5(POMT2): c.1920C> T (p.Gly640=) single nucleotide variant Uncertain significance rs150755807 GRCh38 Chromosome 14, 77278841: 77278841
39 POMT2 NM_013382.5(POMT2): c.2057G> A (p.Arg686Gln) single nucleotide variant Benign/Likely benign rs200163818 GRCh37 Chromosome 14, 77744827: 77744827
40 POMT2 NM_013382.5(POMT2): c.2057G> A (p.Arg686Gln) single nucleotide variant Benign/Likely benign rs200163818 GRCh38 Chromosome 14, 77278484: 77278484
41 POMT2 NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs) insertion Pathogenic rs886042401 GRCh37 Chromosome 14, 77757715: 77757716
42 POMT2 NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs) insertion Pathogenic rs886042401 GRCh38 Chromosome 14, 77291372: 77291373
43 POMT2 NM_013382.5(POMT2): c.649G> A (p.Ala217Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144748043 GRCh37 Chromosome 14, 77769185: 77769185
44 POMT2 NM_013382.5(POMT2): c.649G> A (p.Ala217Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144748043 GRCh38 Chromosome 14, 77302842: 77302842
45 POMT2 NM_013382.5(POMT2): c.1935C> T (p.Leu645=) single nucleotide variant Conflicting interpretations of pathogenicity rs141193672 GRCh37 Chromosome 14, 77745169: 77745169
46 POMT2 NM_013382.5(POMT2): c.1935C> T (p.Leu645=) single nucleotide variant Conflicting interpretations of pathogenicity rs141193672 GRCh38 Chromosome 14, 77278826: 77278826
47 POMT2 NM_013382.5(POMT2): c.66C> T (p.Gly22=) single nucleotide variant Conflicting interpretations of pathogenicity rs200670377 GRCh37 Chromosome 14, 77786959: 77786959
48 POMT2 NM_013382.5(POMT2): c.66C> T (p.Gly22=) single nucleotide variant Conflicting interpretations of pathogenicity rs200670377 GRCh38 Chromosome 14, 77320616: 77320616
49 POMT2 NM_013382.5(POMT2): c.1658dupA (p.Asn553Lysfs) duplication Pathogenic rs886043110 GRCh37 Chromosome 14, 77746802: 77746802
50 POMT2 NM_013382.5(POMT2): c.1658dupA (p.Asn553Lysfs) duplication Pathogenic rs886043110 GRCh38 Chromosome 14, 77280459: 77280459

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 9.37 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.32 POMT1 POMT2
3 mannosylation GO:0097502 9.26 POMT1 POMT2
4 protein O-linked mannosylation GO:0035269 9.16 POMT1 POMT2
5 ER-associated misfolded protein catabolic process GO:0071712 8.96 POMT1 POMT2
6 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 mannosyltransferase activity GO:0000030 8.96 POMT1 POMT2
2 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 2

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