OBO ID: DOID:3529
Term Name: central core disease Search Ontology:
Synonyms:
  • central core myopathy
Definition: A congenital structural myopathy that is characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. (2)
References:
  • GARD:6014
  • ICD10CM:G71.29
  • MESH:D020512
  • NCI:C83010
  • OMIM:117000
  • ORDO:597
  • SNOMEDCT_US_2022_03_01:43152001
  • UMLS_CUI:C0751951
Ontology: Human Disease   (DOID:3529)
OTHER central core disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RYR1 Neuromuscular disease, congenital, with uniform type 1 fiber 117000
Central core disease 117000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)