Search Ontology:
Human Disease

neurofibromatosis 1

Term ID
DOID:0111253
Synonyms
  • familial spinal neurofibromatosis
  • neurofibromatosis type I
  • NF1
  • Peripheral Neurofibromatosis
  • von Recklinghausen Disease
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. (2)
References
  • ICD10CM:Q85.01
  • ICD9CM:237.71
  • MESH:D009456
  • MIM:162200
  • NCI:C3273
  • ORDO:636
  • SNOMEDCT_US_2023_03_01:92824003
  • UMLS_CUI:C0027831
Ontology
Human Disease   ( DOID:0111253 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models