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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

ICD10CM:Q85.01

ICD9CM:237.71

MESH:D009456

MIM:162200

NCI:C3273

ORDO:636

SNOMEDCT_US_2023_03_01:92824003

UMLS_CUI:C0027831

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

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