loading...| Preferred Name |
inherited rippling muscle disease |
|
| Synonyms |
RMD rippling muscle disease |
|
| Definitions |
A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020704 |
|
| has_broad_synonym |
RMD rippling muscle disease |
|
| label |
inherited rippling muscle disease |
|
| prefixIRI |
MONDO:0020704 |
|
| prefLabel |
inherited rippling muscle disease |
|
| textual definition |
A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0020704 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0020704 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0020704 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0020704 | MONDO | LOOM |