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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0020704 |
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| altLabel |
RMD rippling muscle disease
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|
| 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.
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| has_broad_synonym |
RMD rippling muscle disease
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|
| label |
inherited rippling muscle disease
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| prefixIRI |
MONDO:0020704
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| prefLabel |
inherited rippling muscle disease
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| 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.
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| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0020704 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020704 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020704 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020704 | MONDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0020704 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0020704 | EFO | LOOM |