OBO ID: DOID:0111253
Term Name: neurofibromatosis 1 Search Ontology:
Synonyms:
  • familial spinal neurofibromatosis
  • FSNF
  • neurofibromatosis type I
  • NF1
  • Peripheral Neurofibromatosis
  • von Recklinghausen Disease
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. (2)
References:
Ontology: Human Disease   (DOID:0111253)
OTHER neurofibromatosis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NF1 Neurofibromatosis, familial spinal 162210
Neurofibromatosis, type 1 162200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None