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Monogenic disease

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Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndromes
Elejalde disease
Ellis-van Creveld disease Image
Emery-Dreifuss muscular dystrophies
encephalomyopathic mtDNA depletion syndrome with (...)
enzymatic diseases
EPCAM-associated congenital tufting enteropathy
epidermolysis bullosa with pyloric atresia
exercise-induced hypoglycemia