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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease palmoplantar keratosis
Symptom C0878544|cardiomyopathy
Sentences 2
PubMedID- 21668431 cardiomyopathy with alopecia and palmoplantar keratoderma (capk) is caused by a jup mutation.
PubMedID- 21929534 Recent desmosomal genodermatoses described include lethal congenital epidermolysis bullosa (plakoglobin), cardiomyopathy with alopecia and palmoplantar keratoderma (plakoglobin), hypotrichosis with scalp vesicles (desmocollin 3), and generalized peeling skin disease (corneodesmosin).

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