Terminology Service for NFDI4Health

neurofibromatosis

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A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. [ http://en.wikipedia.org/wiki/Neurofibromatosis ]

Term info

Label

neurofibromatosis

Synonyms
  • Recklinghausen's neurofibromatosis
  • acoustic neurofibromatosis
  • central Neurofibromatosis
  • neurofibromatosis
  • neurofibromatosis syndrome
  • peripheral Neurofibromatosis
  • type IV neurofibromatosis of riccardi
  • von Reklinghausen disease
database cross reference
comment

Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis.

definition citation

https://doi.org/10.1590/abd1806-4841.20132125

exactMatch

http://linkedlifedata.com/resource/umls/id/C0162678, http://purl.obolibrary.org/obo/DOID_8712, http://identifiers.org/mesh/D017253, http://purl.obolibrary.org/obo/NCIT_C6727, http://identifiers.org/snomedct/19133005

has narrow synonym

neurofibromatosis type IV, neurofibromatosis type 4, neurofibromatosis type 2

id

EFO:0008514

term editor

Laura Huerta