von Recklinghausen's disease

(redirected from Neurofibromatosis type I)
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Related to Neurofibromatosis type I: von Recklinghausen's disease, NF-1
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Noun1.von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
Translations

Von Recklinghausen's disease

n. enfermedad de Von Recklinghausen. V.: neurofibromatosis
References in periodicals archive ?
Neurofibromatosis type I (NF-1), also named von Recklinghausen's disease, is a genetic disorder caused by a mutation of the NF-1 gene.
1] It is distinctly separated clinically and radiologically from Neurofibromatosis type I.
Von Recklinghausen disease (VR) or neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by the propensity to form ectodermal and mesodermal tissue tumours, (1) affecting primarily the nervous system and the skin.