Disease Term Disease ID Gene Symbol References
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET C3280679 MEGF10 22371254, 27460346, 22101682, 23453856, 23954233, 28498977, 27170117, 18056409
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT C3541476 MEGF10 22101682, 23453856