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General Information
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| Term |
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 |
ID (Ontology) |
DOID:0061184 (Human Disease) |
| Definition |
A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | 1 | for disease ribbon | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | 1 | model of | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | 1 |
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