OBO ID: DOID:0060255
Term Name: rippling muscle disease 2 Search Ontology:
Synonyms:
  • autosomal dominant limb-girdle muscular dystrophy type 1C
Definition: A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (2)
References:
  • GARD:9164
  • OMIM:606072
  • ORDO:265
  • ORDO:97238
  • SNOMEDCT_US_2023_03_01:709281006
  • UMLS_CUI:C1853698
Ontology: Human Disease   ( DOID:0060255 )
Relationships
is a type of:
OTHER rippling muscle disease 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CAV3 Rippling muscle disease 2 606072
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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