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Summary Literature (1)
DOID:0111253 - neurofibromatosis 1


Disease 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.

Synonyms: FSNF, NF1, Peripheral Neurofibromatosis, familial spinal neurofibromatosis, neurofibromatosis type I, von Recklinghausen Disease

Xenbase Genes : nf1, msh2


OMIM:
OMIM:162200 - NEUROFIBROMATOSIS, TYPE I; NF1
OMIM:162210 - NEUROFIBROMATOSIS, FAMILIAL SPINAL

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): neurofibromatosis (is_a)