NOUN | state | von Recklinghausen's disease, neurofibromatosis | autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities |
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Meaning | autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities. | |
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Synonym | neurofibromatosis | |
Broader | autosomal dominant disease, autosomal dominant disorder | A disease caused by a dominant mutant gene on an autosome |
monogenic disorder, monogenic disease | An inherited disease controlled by a single pair of genes | |
Spanish | neurofibromatosis | |
Catalan | neurofibromatosi |
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