loading...| Preferred Name | rippling muscle disease 1 | |
| Synonyms |
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| Definitions |
A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0070308 |
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| created by |
apujar |
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| database_cross_reference |
OMIM:600332 MESH:C535686 |
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| definition |
A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. |
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| has symptom | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0070308 |
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| label |
rippling muscle disease 1 |
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| notation |
DOID:0070308 |
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| note |
A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. |
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| preferred label |
rippling muscle disease 1 |
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| prefLabel |
rippling muscle disease 1 |
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| subClassOf |