|OBO ID: DOID:0111253|
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|Term Name:||neurofibromatosis 1||Search Ontology:|
|Definition:||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. (2)|
|Ontology:||Human Disease (DOID:0111253)|
|is a type of:||