| Preferred Name |
rippling muscle disease 1 |
| 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0070308 |
| created_by |
apujar |
| database_cross_reference |
MESH:C535686 OMIM:600332 |
| 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. |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0070308 |
| label |
rippling muscle disease 1 |
| notation |
DOID:0070308 |
| prefLabel |
rippling muscle disease 1 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/600332 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C535686 | Medical Subject Headings | LOOM |