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Disease Ontology Browser
central core disease (DOID:3529)
Alliance: disease page
Synonyms: central core myopathy
Alt IDs: OMIM:117000, ICD10CM:G71.29, MESH:D020512, NCI:C83010, ORDO:597, UMLS_CUI:C0751951
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory