OBO ID: DOID:0111253 |
Term Name: | neurofibromatosis 1 | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111253 ) |
OTHER neurofibromatosis 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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