Term Name:	neurofibromatosis 1
Synonyms:	familial spinal neurofibromatosis, neurofibromatosis type I, NF1, Peripheral Neurofibromatosis, von Recklinghausen Disease
Definition:	A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
Ontology:	Human Disease [DOID:0111253]   ( DOID:0111253 )