OBO ID: DOID:0111253
Term Name: neurofibromatosis 1 Search Ontology:
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
  • NCI:C3273
  • OMIM:162200
  • ORDO:636
  • SNOMEDCT_US_2023_03_01:92824003
  • UMLS_CUI:C0027831
Ontology: Human Disease   ( DOID:0111253 )
Relationships
is a type of:
has subtype:
OTHER neurofibromatosis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NF1 Neurofibromatosis, type 1 162200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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