| Metadata | |
|---|---|
| ID | DOID:0111253 |
| Name | neurofibromatosis 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/34012067/, https://pubmed.ncbi.nlm.nih.gov/35698197/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:92824003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
neurofibromatosis type I [EXACT] NF1 [EXACT] Peripheral Neurofibromatosis [EXACT] Recklinghausen's neurofibromatosis [EXACT] von Recklinghausen Disease [EXACT] |
| Parent Relationships |
is_a neurofibromatosis |