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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease epidermolysis bullosa simplex
Comorbidity C0878544|cardiomyopathy
Sentences 2
PubMedID- 25454730 Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and plec1 mutation.
PubMedID- 20016501 Plec1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

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