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Neurofibroma

ORPHA:252183 · Disease · Disorder

HPO 表現型（共 28 項）

Obligate (100%)(1)

  • NeurofibromaHP:0001067

Frequent (79-30%)(4)

  • Enlarged peripheral nerveHP:0012645
  • Periarticular subcutaneous nodulesHP:0007470
  • Plexiform neurofibromaHP:0009732
  • Subcutaneous neurofibromaHP:0100698

Occasional (29-5%)(6)

  • Abnormal cranial nerve morphologyHP:0001291
  • Paraspinal neurofibromaHP:0006751
  • Peripheral nerve compressionHP:0003406
  • Spinal canal stenosisHP:0003416
  • Spinal neurofibromaHP:0009735
  • Symmetric spinal nerve root neurofibromasHP:0006851

Very rare (<4-1%)(15)

  • Abnormal biliary tract morphologyHP:0012440
  • Atypical neurofibromatosisHP:0007524
  • Enlargement of parotid glandHP:0011801
  • Facial neoplasmHP:0012289
  • Intestinal bleedingHP:0002584
  • KyphoscoliosisHP:0002751
  • MacrocephalyHP:0000256
  • Multiple intestinal neurofibromatosisHP:0005220
  • Neoplasia of the pleuraHP:0100527
  • Neoplasm of the breastHP:0100013
  • Neoplasm of the tracheaHP:0100551
  • Palmar neurofibromaHP:0007576
  • Peripheral schwannomaHP:0009593
  • Recurrent otitis mediaHP:0000403
  • Spinal meningiomaHP:0100010

Excluded (0%)(2)

  • Melanocytic nevusHP:0000995
  • Skin tagsHP:0010609