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Summary Literature (0)
MIM:117000 - CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA; CMYP1A


Xenbase Genes: ryr1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007294 - central core myopathy
MONDO:0015793 - moderate multiminicore disease with hand involvement
MONDO:0018948 - multiminicore myopathy

Disease Ontology (DO):
DOID:3529 - congenital myopathy 1A