1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070482 | spinal neurofibromatosis | A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0111253 | neurofibromatosis 1 | 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. |