About   Help   FAQ
Disease Ontology Browser
neurofibromatosis 1 (DOID:0111253)
Alliance: disease page
Synonyms: neurofibromatosis type I; NF1; Peripheral Neurofibromatosis; Recklinghausen's neurofibromatosis; von Recklinghausen Disease
Alt IDs: OMIM:162200, ICD10CM:Q85.01, MESH:D009456, NCI:C3273, ORDO:636, UMLS_CUI:C0027831
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.

Disease References using Mouse Models (29)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory