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
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
Translations

Von Recklinghausen's disease

n. enfermedad de Von Recklinghausen. V.: neurofibromatosis
English-Spanish Medical Dictionary © Farlex 2012
References in periodicals archive ?
Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type I. J Gastroenterol 2016;51:571-8.
Approximately 40% of patients with neurofibromatosis type I suffer from skeletal malformations, including primary bone hypoplasia and neurofibroma erosion; however, in actual case analysis, the latter is rare (Raj et al., 2009; Arrington et al., 2013).
Li et al., "Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study," Orphanet Journal of Rare Diseases, vol.
Neurofibromatosis type I (NF1) is a neurocutaneous disorder that involves autosomal dominant transmission.
Neurofibromatosis type I (NF-1), also named von Recklinghausen's disease, is a genetic disorder caused by a mutation of the NF-1 gene.
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
[1] It is distinctly separated clinically and radiologically from Neurofibromatosis type I. It occurs approximately 1 in 50,000 live births.