OBO ID: DOID:8712
Term Name: neurofibromatosis Search Ontology:
Synonyms:
  • Acoustic neurofibromatosis
  • central Neurofibromatosis
  • Neurofibromatosis 1
  • neurofibromatosis type 1
  • neurofibromatosis type 2
  • neurofibromatosis type 4
  • neurofibromatosis type IV
  • peripheral Neurofibromatosis
  • Recklinghausen's neurofibromatosis
  • type IV neurofibromatosis of riccardi
  • von Reklinghausen disease
Definition:
References:
  • CSP2005:2012-7338
  • GARD:10420
  • ICD10CM:Q85.00
  • ICD10CM:Q85.01
  • ICD10CM:Q85.02
  • ICD9CM:237.7
  • ICD9CM:237.70
  • ICD9CM:237.71
  • ICD9CM:237.72
  • MESH:C537392
  • MESH:D009456
  • MESH:D016518
  • MESH:D017253
  • MTH:U003314
  • MTHICD9_2006:237.72
  • NCI2004_11_17:C3273
  • NCI2004_11_17:C3274
  • NCI:C3273
  • NCI:C3274
  • NCI:C6727
  • OMIM:101000
  • OMIM:162200
  • OMIM:162210
  • OMIM:162260
  • OMIM:162270
  • ORDO:636
  • ORDO:637
  • ORDO:93921
  • SNOMEDCT_US_2018_03_01:19133005
  • SNOMEDCT_US_2018_03_01:81669005
  • SNOMEDCT_US_2018_03_01:92503002
  • SNOMEDCT_US_2018_03_01:92824003
  • UMLS_CUI:C0027831
  • UMLS_CUI:C0027832
  • UMLS_CUI:C0162678
  • UMLS_CUI:C0220695
Ontology: Human Disease   (DOID:8712)
Relationships
is a type of:
OTHER neurofibromatosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NF1 Neurofibromatosis, familial spinal 162210
Neurofibromatosis, type 1 162200
NF2 Neurofibromatosis, type 2 101000
ZEBRAFISH MODELS
Fish Conditions Citations
nf1ap301/p301; nf1bp303/p303 standard conditions Wolman et al., 2014
PHENOTYPE No data available

CITATIONS (2)