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Large/giant congenital melanocytic nevus

ORPHA:626 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(3)

  • Abnormal skin pigmentationHP:0001000
  • Congenital giant melanocytic nevusHP:0005600
  • NevusHP:0003764

Frequent (79-30%)(3)

  • AnhidrosisHP:0000970
  • Dry skinHP:0000958
  • Poor wound healingHP:0001058

Occasional (29-5%)(12)

  • Atypical behaviorHP:0000708
  • Cutaneous melanomaHP:0012056
  • HeadacheHP:0002315
  • HydrocephalusHP:0000238
  • HypertrichosisHP:0000998
  • Hypopigmented skin patchesHP:0001053
  • Increased intracranial pressureHP:0002516
  • Neurodevelopmental delayHP:0012758
  • PruritusHP:0000989
  • SeizureHP:0001250
  • Spinal cord compressionHP:0002176
  • Subcutaneous noduleHP:0001482

Very rare (<4-1%)(3)

  • CryptorchidismHP:0000028
  • Hypophosphatemic ricketsHP:0004912
  • Premature thelarcheHP:0010314