Human genes for neurofibromatosis 1
Neurofibromatosis 1 [DOID:0111253]
A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2.
Synonyms: neurofibromatosis 1, DOID:0111253, familial spinal neurofibromatosis, FSNF, neurofibromatosis type I ...