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Echinobase
Summary Literature (0)
DOID:0111253 - neurofibromatosis 1

Disease Ontology 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.

Synonyms: neurofibromatosis type I, NF1, Peripheral Neurofibromatosis, Recklinghausen's neurofibromatosis, von Recklinghausen Disease

Echinobase Genes : nf1


MIM:
MIM:162200 - neurofibromatosis, type i; nf1

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

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