|
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: FSNF, NF1, Peripheral Neurofibromatosis, Recklinghausen's neurofibromatosis, familial spinal neurofibromatosis, neurofibromatosis type I, von Recklinghausen Disease,
Xenbase Genes
:
nf1,
msh2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neurofibromatosis (is_a)