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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 (31)
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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory