DISEASES

Disease-gene associations mined from literature

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 ...