MDDGC4
MCID: MSC103
MIFTS: 44

Muscular Dystrophy-Dystroglycanopathy , Type C, 4 (MDDGC4)

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, 4

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 4 57 20 72 13
Lgmd2m 57 12 20 58 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m 12 20 58 15
Mddgc4 57 12 72
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C4 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13 57 72
Fukutin-Related Limb-Girdle Muscular Dystrophy R13 20 58
Muscular Dystrophy, Limb-Girdle, Type 2m 57 70
Limb-Girdle Muscular Dystrophy Type 2m 20 72
Autosomal Recessive Lgmd Type 2m 20 58
Fukutin-Related Lgmd R13 20 58
Lgmd Type 2m 20 58
Lgmdr13 57 72
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 4c 72
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13; Lgmdr13 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4 72
Muscular Dystrophy, Limb-Girdle, Type 2m; Lgmd2m 57
Muscular Dystrophy-Dystroglycanopathy Type C 4 12
Dystrophy, Muscular, Limb-Girdle, Type 2m 39
Mdgd4c 72

Characteristics:

Orphanet epidemiological data:

58
fukutin-related limb-girdle muscular dystrophy r13
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder
symptoms are aggravated by febrile illness
good response to steroid treatment


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110296
OMIM® 57 611588
OMIM Phenotypic Series 57 PS253600 PS609308
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1969040
Orphanet 58 ORPHA206554
MedGen 41 C1969040
UMLS 70 C1969040

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

OMIM® : 57 MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). 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., 2009). (611588) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 4, also known as lgmd2m, is related to muscular dystrophy, becker type and dilated cardiomyopathy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 4 is FKTN (Fukutin), and among its related pathways/superpathways are Metabolism of proteins and O-linked glycosylation. Affiliated tissues include skeletal muscle, and related phenotypes are talipes equinovarus and hyperlordosis

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy limb-girdle C4: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

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
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 29.7 FKTN FKRP DYSF DAG1 CAPN3 B3GNT2
2 dilated cardiomyopathy 29.5 MYOT FKTN FKRP DPM3 DAG1 ANO5
3 limb-girdle muscular dystrophy 29.3 TRAPPC11 POMT1 POMGNT1 MYOT FKTN FKRP
4 muscular dystrophy 27.2 TRAPPC11 POMT2 POMT1 POMGNT1 MYOT GMPPB
5 muscle hypertrophy 10.3
6 congenital muscular dystrophy-dystroglycanopathy a7 10.2 FKTN FKRP
7 cardiomyopathy, dilated, 1x 10.2 FKTN DAG1
8 fukuyama type muscular dystrophy 10.2 FKTN FKRP
9 paresthesia 10.2 FKRP CAPN3
10 congenital muscular dystrophy without intellectual disability 10.2 POMT1 FKTN FKRP
11 congenital muscular dystrophy-dystroglycanopathy type a5 10.1 FKRP DAG1 B3GNT2
12 limb-girdle muscular dystrophy type 1c 10.1 FKRP DYSF
13 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 FKRP CAPN3
14 muscular dystrophy, limb-girdle, type 1h 10.1 TRAPPC11 MYOT
15 epidermolysis bullosa simplex with mottled pigmentation 10.1 POMT2 POMT1
16 foot drop 10.1 MYOT DYSF
17 autosomal dominant limb-girdle muscular dystrophy 10.1 MYOT CAPN3
18 cardiomyopathy, dilated, 3b 10.1 DYSF DAG1
19 muscular dystrophy, limb-girdle, autosomal dominant 3 10.1 TRAPPC11 MYOT
20 myopathy, myofibrillar, 1 10.0 MYOT CAPN3
21 epidermolysis bullosa simplex with muscular dystrophy 10.0 TRAPPC11 FKRP
22 ablepharon-macrostomia syndrome 10.0 POMT1 POMGNT1 FKTN FKRP
23 dysferlinopathy 10.0 DYSF CAPN3
24 myopathy, myofibrillar, 9, with early respiratory failure 10.0 MYOT CAPN3
25 autosomal recessive disease 10.0 FKTN FKRP B3GNT2
26 congenital muscular dystrophy due to dystroglycanopathy 10.0 GMPPB FKRP
27 glycogen storage disease ii 9.9 FKRP CAPN3 ANO5
28 retinal lattice degeneration 9.9 POMT2 POMT1 FKTN DAG1
29 congenital muscular dystrophy-dystroglycanopathy a14 9.9 GMPPB DAG1
30 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 POMT2 POMT1 FKTN FKRP
31 muscular dystrophy, limb-girdle, autosomal recessive 4 9.9 FKRP DYSF CAPN3
32 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 FKRP DYSF CAPN3
33 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 FKRP DYSF CAPN3
34 congenital muscular dystrophy-dystroglycanopathy type a2 9.9 POMT2 POMT1 DPM3
35 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 FKRP DYSF CAPN3
36 myopathy, myofibrillar, 3 9.9 MYOT DYSF CAPN3
37 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 MYOT DYSF CAPN3
38 miyoshi muscular dystrophy 3 9.8 DYSF CAPN3 ANO5
39 muscular dystrophy, limb-girdle, autosomal recessive 1 9.8 TRAPPC11 CAPN3
40 atrial standstill 1 9.8 MYOT FKRP DPM3
41 cardiomyopathy, dilated, 1d 9.8 POMT2 POMT1 POMGNT1 FKRP DAG1
42 peters-plus syndrome 9.8 POMT2 POMT1 POMGNT1 DAG1 B3GNT2
43 congenital muscular dystrophy-dystroglycanopathy type a3 9.8 POMT2 POMT1 POMGNT1 DPM3
44 limb-girdle muscular dystrophy type 1a 9.7 MYOT FKRP DYSF CAPN3
45 muscular dystrophy, limb-girdle, autosomal recessive 7 9.7 MYOT FKRP DYSF CAPN3
46 muscular dystrophy, limb-girdle, autosomal dominant 2 9.7 MYOT FKRP DYSF CAPN3
47 muscular dystrophy, congenital, 1b 9.7 GMPPB FKTN FKRP DAG1
48 emery-dreifuss muscular dystrophy 9.7 MYOT FKRP DYSF CAPN3
49 facioscapulohumeral muscular dystrophy 1 9.7 MYOT FKRP DYSF CAPN3
50 hydrocephalus 9.7 POMT2 POMT1 POMGNT1

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 4

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 occasional (7.5%) HP:0001762
2 hyperlordosis 31 HP:0003307
3 flexion contracture 31 HP:0001371
4 pectus excavatum 31 HP:0000767
5 elevated serum creatine kinase 31 HP:0003236
6 motor delay 31 HP:0001270
7 hyporeflexia 31 HP:0001265
8 skeletal muscle hypertrophy 31 HP:0003712
9 muscular dystrophy 31 HP:0003560
10 generalized hypotonia 31 HP:0001290
11 gowers sign 31 HP:0003391
12 abnormal glycosylation 31 HP:0012345
13 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Chest External Features:
pectus excavatum

Muscle Soft Tissue:
muscular dystrophy
proximal muscle weakness
gowers sign
hypotonia
delayed motor development
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
pes equinovarus (1 patient)

Neurologic Peripheral Nervous System:
hyporeflexia

Skeletal Spine:
lordosis

Skeletal:
contractures

Neurologic Central Nervous System:
no central nervous system abnormalities

Clinical features from OMIM®:

611588 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 ANO5 B3GNT2 DAG1 DPM3 DYSF FKRP
2 muscle MP:0005369 9.23 ANO5 CAPN3 DAG1 DYSF FKRP FKTN

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C4 29 FKTN

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

40
Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

(show all 18)
# Title Authors PMID Year
1
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 6 57 61
19179078 2009
2
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
3
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. 6 57
19342235 2009
4
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57
17878207 2007
5
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 57 6
17044012 2006
6
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 6
18177472 2008
7
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 57
17008331 2007
8
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 6
14627679 2003
9
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. 6
11165248 2001
10
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). 6
10545611 1999
11
[A case of limb-girdle muscular dystrophy 2M diagnosed by the occurence of dilated cardiomyopathy]. 61
26050665 2015
12
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
13
A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy. 61
23746544 2013
14
Other limb-girdle muscular dystrophies. 61
21496628 2011
15
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 61
20961758 2011
16
[Limb-girdle muscular dystrophy type 2M with adult-onset loss of ambulation. A case report]. 61
20960933 2010
17
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 61
18195152 2008
18
Ins and outs of therapy in limb girdle muscular dystrophies. 61
17339125 2007

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKTN NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) SNV Pathogenic 3204 rs119463996 GRCh37: 9:108366653-108366653
GRCh38: 9:105604372-105604372
2 FKTN NM_001079802.2(FKTN):c.1363del (p.Asp455fs) Deletion Pathogenic 3207 rs587777814 GRCh37: 9:108397520-108397520
GRCh38: 9:105635239-105635239
3 FKTN NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) SNV Pathogenic 3213 rs119463995 GRCh37: 9:108363600-108363600
GRCh38: 9:105601319-105601319
4 FKTN NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) SNV Pathogenic 3208 rs119463992 GRCh37: 9:108380249-108380249
GRCh38: 9:105617968-105617968
5 FKTN NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) SNV Pathogenic 225359 rs746763506 GRCh37: 9:108366733-108366733
GRCh38: 9:105604452-105604452
6 FKTN NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) Duplication Pathogenic 3203 rs398123555 GRCh37: 9:108382330-108382331
GRCh38: 9:105620049-105620050
7 FKTN NM_006731.2(FKTN):c.648-1243G>T SNV Likely pathogenic 496331 rs1554754182 GRCh37: 9:108368857-108368857
GRCh38: 9:105606576-105606576
8 FKTN NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) SNV Uncertain significance 450015 rs1187674499 GRCh37: 9:108366685-108366685
GRCh38: 9:105604404-105604404
9 FKTN NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) SNV Uncertain significance 286471 rs146049441 GRCh37: 9:108366509-108366509
GRCh38: 9:105604228-105604228
10 FKTN NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) SNV Uncertain significance 283469 rs146272618 GRCh37: 9:108397387-108397387
GRCh38: 9:105635106-105635106
11 FKTN NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) SNV Uncertain significance 499551 rs374912618 GRCh37: 9:108397496-108397496
GRCh38: 9:105635215-105635215
12 FKTN NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) SNV Benign 93522 rs34787999 GRCh37: 9:108366734-108366734
GRCh38: 9:105604453-105604453

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 4:

72
# Symbol AA change Variation ID SNP ID
1 FKTN p.Arg307Gln VAR_039288 rs119463992
2 FKTN p.Ala114Thr VAR_065050 rs119463995
3 FKTN p.Phe176Ser VAR_065052 rs119463996

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 4.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 POMT2 POMT1 POMGNT1 GMPPB DPM3 DAG1
2
Show member pathways
11.62 POMT2 POMT1 POMGNT1 DAG1 B3GNT2
3 10.38 POMT2 POMT1 POMGNT1 FKTN FKRP

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.65 POMT2 POMT1 POMGNT1 FKTN FKRP DYSF
2 endoplasmic reticulum GO:0005783 9.63 POMT2 POMT1 FKTN FKRP DPM3 ANO5
3 sarcolemma GO:0042383 8.92 MYOT FKRP DYSF DAG1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.54 MYOT DAG1 B3GNT2
2 protein glycosylation GO:0006486 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
3 protein O-linked glycosylation GO:0006493 9.46 POMT2 POMT1 POMGNT1 FKTN
4 mannosylation GO:0097502 9.32 POMT2 POMT1
5 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
6 protein O-linked mannosylation GO:0035269 9.02 POMT2 POMT1 FKTN FKRP DPM3

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.87 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
2 acetylglucosaminyltransferase activity GO:0008375 9.43 POMGNT1 B3GNT2
3 mannosyltransferase activity GO:0000030 9.4 POMT2 POMT1
4 alpha-actinin binding GO:0051393 9.37 MYOT DAG1
5 dystroglycan binding GO:0002162 9.26 FKRP DAG1
6 transferase activity, transferring glycosyl groups GO:0016757 9.26 POMT2 POMT1 POMGNT1 B3GNT2
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT2 POMT1
8 structural constituent of muscle GO:0008307 8.8 MYOT DAG1 CAPN3

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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