Rippling Muscle Disease 2

Preferred Label : Rippling Muscle Disease 2;

NCIt synonyms : RMD2;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.;

Details

Origin ID

C148325;

UMLS CUI

C1832560;

Automatic exact mappings (from CISMeF team)
- Regulator of microtubule dynamics 2 [OMIM gene]
- Rippling muscle disease 2 [OMIM Phenotype]
Currated CISMeF NLP mapping
- rippling muscle disease 2 [DO Concept]
- rippling muscle disease 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rippling muscle disease 2 [OMIM Phenotype]
- rippling muscle disease 2 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CAV3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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