WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0111253
Child Term . Identifier  DOID:0070482 Direct  true
Redundant  false

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.