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Metadata
ID DOID:0111253
Name neurofibromatosis 1
Definition A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2.
https://www.ncbi.nlm.nih.gov/pubmed/19117870, https://www.ncbi.nlm.nih.gov/pubmed/8825042
Xrefs

ICD10CM:Q85.01

ICD9CM:237.71

MESH:D009456

NCI:C3273

OMIM:162200

OMIM:162210

ORDO:636

SNOMEDCT_US_2021_09_01:92824003

UMLS_CUI:C0027831

Synonyms

familial spinal neurofibromatosis [EXACT]

FSNF [EXACT]

neurofibromatosis type I [EXACT]

NF1 [EXACT]

Peripheral Neurofibromatosis [EXACT]

von Recklinghausen Disease [EXACT]

Parent Relationships

is_a neurofibromatosis

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