MCID: MYT002
MIFTS: 48

Myotonic Dystrophy malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Myotonic Dystrophy

Aliases & Descriptions for Myotonic Dystrophy:

Name: Myotonic Dystrophy 71 50 25 29 52 69
Dystrophia Myotonica 50 25
Myotonia Dystrophica 50 25
Myotonia Atrophica 50 25
Myotonic Dystrophy 1 69

Classifications:



Summaries for Myotonic Dystrophy

NIH Rare Diseases : 50 myotonic dystrophy is an inherited condition that affects the muscles and other body systems. it is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. this condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. people with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. the severity of the condition varies widely among affected people, even among members of the same family. there are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. the symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. myotonic dystrophy type 1 is caused by mutations in the dmpk gene, while type 2 is caused by mutations in the cnbp gene. last updated: 3/12/2014

MalaCards based summary : Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy 1 and myotonic dystrophy 2, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy is DMPK (Dystrophia Myotonica Protein Kinase). The drugs Dopamine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain, and related phenotypes are Condensed cis-Golgi and Increased cell viability after pRB stimulation

Genetics Home Reference : 25 Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

Wikipedia : 71 Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include... more...

Related Diseases for Myotonic Dystrophy

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 2 Myotonic Dystrophy 1

Diseases related to Myotonic Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 159)
id Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 1 12.5
2 myotonic dystrophy 2 12.5
3 myotonia atrophica 11.5
4 dysphagia 11.2
5 floppy infant syndrome 10.9
6 hypotonia 10.9
7 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.9
8 infantile hypotonia 10.9
9 swallowing disorders 10.9
10 myotonia 10.4
11 myopathy 10.3
12 muscular dystrophy 10.2
13 neuropathy 10.2
14 cerebritis 10.2
15 atrial fibrillation 10.1
16 paresthesia 10.1 CLCN1 DMPK
17 hypersomnia 10.1
18 cataract 10.1
19 neuronitis 10.1
20 sleep disorder 10.1
21 polyhydramnios 10.0
22 myotonia congenita 10.0
23 cardiomyopathy 10.0
24 ataxia 10.0
25 premature ovarian failure 5 10.0 CLCN1 CNBP DMPK
26 hypogonadism 10.0
27 myasthenia gravis 10.0
28 sudden cardiac death 10.0
29 muscular atrophy 10.0
30 chromosome 3q13.31 deletion syndrome 9.9 CLCN1 CNBP DMPK MBNL1
31 b cell deficiency 9.9 CLCN1 CNBP DMPK
32 intestinal pseudo-obstruction 9.9
33 hydrocephalus 9.9
34 cholelithiasis 9.9
35 neuromuscular disease 9.9
36 duchenne muscular dystrophy 9.9
37 becker muscular dystrophy 9.9
38 respiratory failure 9.9
39 talipes equinovarus 9.9
40 fragile x syndrome 9.9
41 restless legs syndrome 9.9
42 thymoma 9.9
43 laryngitis 9.9
44 epilepsy 9.9
45 cerebral angioma 9.9 CLCN1 DMPK MBNL1
46 esophagitis 9.8
47 hydrops fetalis 9.8
48 hypoaldosteronism 9.8
49 liver disease 9.8
50 lateral sclerosis 9.8

Graphical network of the top 20 diseases related to Myotonic Dystrophy:



Diseases related to Myotonic Dystrophy

Symptoms & Phenotypes for Myotonic Dystrophy

UMLS symptoms related to Myotonic Dystrophy:


excessive daytime somnolence, weakness

GenomeRNAi Phenotypes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.13 DMPK CDC42BPA CKM
2 Increased cell viability after pRB stimulation GR00230-A-1 8.92 CDC42BPA CDC42BPB CKM DMPK

MGI Mouse Phenotypes related to Myotonic Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 MBNL3 SIX5 ATP2A1 CKM CLCN1 DMPK

Drugs & Therapeutics for Myotonic Dystrophy

Drugs for Myotonic Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
4
Fesoterodine Approved Phase 3 286930-02-7, 286930-03-8 6918558
5
Levodopa Approved Phase 3 59-92-7 6047
6
Apomorphine Approved, Investigational Phase 3 41372-20-7, 58-00-4 6005
7
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
8 Acyclovir Phase 3
9 calcium channel blockers Phase 3
10 Muscarinic Antagonists Phase 3
11 Cholinergic Agents Phase 3
12 Adjuvants, Immunologic Phase 2, Phase 3
13 Cholinergic Antagonists Phase 3
14 Sodium Channel Blockers Phase 3,Phase 2
15 Neurotransmitter Agents Phase 2, Phase 3
16 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
17 Diuretics, Potassium Sparing Phase 3,Phase 2
18 Dopamine Agents Phase 2, Phase 3
19 Dopamine Uptake Inhibitors Phase 2, Phase 3
20 Excitatory Amino Acid Antagonists Phase 3
21 Excitatory Amino Acids Phase 3
22 Anti-Infective Agents Phase 3
23 Anticonvulsants Phase 3
24 Antiviral Agents Phase 3
25 Calcium, Dietary Phase 3
26 Central Nervous System Stimulants Phase 2, Phase 3
27 Dopamine agonists Phase 3
28 Gastrointestinal Agents Phase 3
29 Peripheral Nervous System Agents Phase 3
30 Emetics Phase 3
31 Autonomic Agents Phase 3
32 DHEA (Dehydroepiandrosterone) Nutraceutical Phase 2, Phase 3
33
Zinc Approved Phase 2 7440-66-6 32051 23994
34
Mexiletine Approved Phase 2 31828-71-4 4178
35
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
36
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
37
Exemestane Approved, Investigational Phase 2 107868-30-4 60198
38
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
39
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
40
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
41
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
42 insulin Phase 2,Phase 1
43 Mitogens Phase 2,Phase 1
44 Complement Factor I Phase 2
45 Hypoglycemic Agents Phase 2
46 Insulin, Globin Zinc Phase 2,Phase 1
47 Anti-Arrhythmia Agents Phase 2
48 Steroid Synthesis Inhibitors Phase 2
49 Hormone Antagonists Phase 2
50 Hormones Phase 2

Interventional clinical trials:

(show all 49)
id Name Status NCT ID Phase
1 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
2 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3
3 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3
4 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3
5 Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder Syndrome Completed NCT00220402 Phase 3
6 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3
7 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
8 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
9 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3
10 An Open-Label Phase 3 Study to Examine the Long-Term Safety, Tolerability and Efficacy of APL-130277 for the Acute Treatment of "OFF" Episodes in Patients With Parkinson's Disease Recruiting NCT02542696 Phase 3
11 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
12 Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2
13 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2
14 Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2
15 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2
16 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Recruiting NCT02858908 Phase 2
17 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Recruiting NCT02251457 Phase 2
18 NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast Cancer Recruiting NCT02689921 Phase 2
19 Stromal Vascular Fraction for Treatment of Xerostomia Not yet recruiting NCT03061110 Phase 1, Phase 2
20 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
21 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
22 A Clinical Trial to Evaluate the Safety and Effectiveness of the Raindrop Near Vision Inlay for Pseudophakic Subjects Terminated NCT03017612 Phase 1
23 Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy Unknown status NCT02269865
24 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238
25 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
26 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
27 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
28 DM1 Heart Registry - DM1 Respiratory Registry Completed NCT01136330
29 Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy Completed NCT01530841
30 Venous Thromboembolism in DM1 Completed NCT03141749
31 Quality of Life in Neuromuscular Disease Completed NCT02895763
32 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Recruiting NCT02831504
33 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
34 Myotonic Dystrophy Family Registry Recruiting NCT02398786
35 Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy Recruiting NCT02880735
36 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Recruiting NCT02375087
37 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
38 Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders Recruiting NCT02339402
39 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Recruiting NCT02833168
40 Prospective Assessment of Allogeneic Hematopoietic Cell Transplantation in Patients With Myelofibrosis Recruiting NCT02934477
41 Observational Prolonged Trial in Myotonic Dystrophy Type 1 Active, not recruiting NCT02118779
42 Multicenter Observational Study of Myotonic Dystrophy Type 1 Active, not recruiting NCT02308657
43 Arrhythmias in Myotonic Muscular Dystrophy Active, not recruiting NCT00622453
44 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Enrolling by invitation NCT02708784
45 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
46 NIPD on CFTC for Triplet Repeat Diseases Not yet recruiting NCT03087526
47 Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects Terminated NCT02930408
48 Development of New Prenatal Diagnostic Tests From Maternal Blood Terminated NCT00314691
49 European Home Mechanical Ventilation Registry Terminated NCT02315339

Search NIH Clinical Center for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

Genetic tests related to Myotonic Dystrophy:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy 29

Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

39
Heart, Skeletal Muscle, Brain, Testes, Lung, Liver, Endothelial

Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(show top 50) (show all 1278)
id Title Authors Year
1
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I. ( 28067669 )
2017
2
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. ( 28257691 )
2017
3
Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1. ( 28078570 )
2017
4
Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1. ( 27933692 )
2017
5
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study. ( 27919548 )
2017
6
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. ( 28078562 )
2017
7
Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat. ( 28102759 )
2017
8
Comments on Letter to the Editor entitled: "Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy". ( 28291654 )
2017
9
Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type 1 and Emery Dreifuss Muscular Dystrophy. ( 28237579 )
2017
10
50 Years Ago in TheJournal ofPediatrics: Myotonic Dystrophy: A Neglected Form of Mental Retardation. ( 26922763 )
2016
11
Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study. ( 27611986 )
2016
12
Myotonic dystrophy type 1. ( 27270116 )
2016
13
Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy. ( 27126921 )
2016
14
Muscle MRI of the Upper Extremity in the Myotonic Dystrophy Type 1. ( 27466802 )
2016
15
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis. ( 28065683 )
2016
16
Body composition and clinical outcome measures in patients with myotonic dystrophy type 1. ( 28082208 )
2016
17
Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association? ( 27225277 )
2016
18
Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases. ( 27489983 )
2016
19
Staufen1 Impairs Stress Granule Formation in Skeletal Muscle Cells from Myotonic Dystrophy type 1 Patients. ( 27030674 )
2016
20
Pilomatrixoma of the breast in a patient with type 1 myotonic dystrophy: successful surgical approach. ( 27373126 )
2016
21
Quality of life in patients with myotonic dystrophy type 2. ( 27206898 )
2016
22
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. ( 27665240 )
2016
23
Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy. ( 27164920 )
2016
24
Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy. ( 27595026 )
2016
25
Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy. ( 27133661 )
2016
26
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1. ( 27941019 )
2016
27
Knowledge of Sub-Types Important to Understanding of the Prevalence of Myotonic Dystrophy. ( 26974673 )
2016
28
Variable genetic penetrance of myotonic dystrophy following the diagnosis of idiopathic polyhydramnios. ( 27039051 )
2016
29
Supraventricular and Ventricular Arrhythmias Are Related to the Type of Myotonic Dystrophy but Not to Disease Duration or Neurological Status. ( 27444982 )
2016
30
Targeting the Heart for Risk Assessment in Myotonic Dystrophy: An Application for Cardiac Magnetic Resonance. ( 27363858 )
2016
31
Overweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1. ( 27015655 )
2016
32
Using digital technologies to engage with medical research: views of myotonic dystrophy patients in Japan. ( 27553007 )
2016
33
Opioid-free general anesthesia in patient with Steinert syndrome (myotonic dystrophy): Case report. ( 27631259 )
2016
34
Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort. ( 27854230 )
2016
35
A Molecular Signature of Myalgia in Myotonic Dystrophy 2. ( 27322473 )
2016
36
Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1. ( 27437180 )
2016
37
Peripheral neuropathy in patients with myotonic dystrophy type 2. ( 27401721 )
2016
38
Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study. ( 27088471 )
2016
39
Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study. ( 27911338 )
2016
40
Renal dysfunction can be a common complication in patients with myotonic dystrophy 1. ( 27538647 )
2016
41
Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort. ( 27542439 )
2016
42
Ritodrine-induced rhabdomyolysis, infantile myotonic dystrophy, and maternal myotonic dystrophy unveiled. ( 27987333 )
2016
43
Molecular Diagnosis of Myotonic Dystrophy. ( 27727437 )
2016
44
Genome therapy of myotonic dystrophy type 1 iPS cells for development of autologous stem cell therapy. ( 27203440 )
2016
45
Myotonic dystrophy type 2 presenting as inflammatory myopathy. ( 27625258 )
2016
46
Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood. ( 26756355 )
2016
47
Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation. ( 27609169 )
2016
48
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. ( 27222292 )
2016
49
Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2. ( 27896491 )
2016
50
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. ( 26994442 )
2016

Variations for Myotonic Dystrophy

Expression for Myotonic Dystrophy

Search GEO for disease gene expression data for Myotonic Dystrophy.

Pathways for Myotonic Dystrophy

GO Terms for Myotonic Dystrophy

Cellular components related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.4 CDC42BPA CDC42BPB CELF1 CKM CNBP DMPK
2 sarcoplasmic reticulum GO:0016529 9.32 ATP2A1 DMPK
3 cell leading edge GO:0031252 9.26 CDC42BPA CDC42BPB
4 sarcoplasmic reticulum membrane GO:0033017 9.16 ATP2A1 DMPK
5 actomyosin GO:0042641 8.96 CDC42BPA CDC42BPB

Biological processes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.46 CELF1 MBNL1 MBNL2 MBNL3
2 actin cytoskeleton reorganization GO:0031532 9.32 CDC42BPA CDC42BPB
3 actomyosin structure organization GO:0031032 9.26 CDC42BPA CDC42BPB
4 RNA splicing GO:0008380 9.26 CELF1 MBNL1 MBNL2 MBNL3
5 regulation of RNA splicing GO:0043484 8.92 CELF1 MBNL1 MBNL2 MBNL3

Molecular functions related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.28 ATP2A1 CDC42BPA CDC42BPB CNBP DMPK MBNL1

Sources for Myotonic Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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60 QIAGEN
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70 UMLS via Orphanet
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