RYR-1-related diseases are conditions caused by changes (mutations) in the RYR-1 gene. RYR-1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. [ https://rarediseases.org/rare-diseases/ryr-1-related-diseases/ ]. The disease is EFO_0009143 (ryr1-related disorders).