PedAM
Pediatric Disease Annotations & Medicines
| myotonia | ||||
| Disease ID | 1852 |
|---|---|
| Disease | myotonia |
| Definition | Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS. |
| Synonym | delayed relaxation of muscle fibers after contraction myotonia (finding) myotonia [disease/finding] myotonias |
| UMLS | C0027125 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0270911 | charcot-marie-tooth disease type 1a | 1 C0038379 | strabismus | 1 C0085655 | polymyositis | 1 C0878544 | cardiomyopathy | 1 C0007959 | charcot-marie-tooth disease | 1 C0001622 | hyperadrenocorticism | 1 C0043202 | wolff-parkinson-white syndrome | 1 C0410528 | skeletal dysplasia | 1 C0017921 | acid maltase deficiency | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1852 |
|---|---|
| Disease | myotonia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0001324 | Muscular weakness | 3 HP:0000486 | Squint eyes | 1 HP:0012378 | Fatigue | 1 HP:0000737 | Irritability | 1 HP:0004322 | Stature below 3rd percentile | 1 HP:0009025 | Increased connective tissue | 1 HP:0001716 | Wolff-Parkinson-White syndrome | 1 HP:0012899 | Grip myotonia | 1 HP:0003690 | Limb weakness | 1 HP:0002652 | Skeletal dysplasia | 1 HP:0001371 | Flexion contractures of joints | 1 HP:0001638 | Cardiomyopathy | 1 |
| Disease ID | 1852 |
|---|---|
| Disease | myotonia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0027125 | colchicine | D003078 | 64-86-8 | myotonia | MESH:D009222 | marker/mechanism | 8965841 | ||
| C0027125 | pravastatin | D017035 | 81093-37-0 | myotonia | MESH:D009222 | marker/mechanism | 10367184 | ||
| C0027125 | propranolol | D011433 | 525-66-6 | myotonia | MESH:D009222 | marker/mechanism | 876285 | ||
| C0027125 | succinylcholine | D013390 | 306-40-1 | myotonia | MESH:D009222 | marker/mechanism | 5477651 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |