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Infantile myofibromatosis

ORPHA:2591 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(7)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormality of the musculatureHP:0003011
  • Bone cystHP:0012062
  • FibromaHP:0010614
  • Neoplasm of the skinHP:0008069
  • SarcomaHP:0100242
  • Subcutaneous noduleHP:0001482

Frequent (79-30%)(8)

  • Abnormal hair morphologyHP:0001595
  • Abnormal intestine morphologyHP:0002242
  • Abnormal skull morphologyHP:0000929
  • Abnormal thorax morphologyHP:0000765
  • Abnormality of the faceHP:0000271
  • ChondrocalcinosisHP:0000934
  • Gingival fibromatosisHP:0000169
  • Neoplasm of the lungHP:0100526

Occasional (29-5%)(13)

  • Abnormal sacrum morphologyHP:0005107
  • Abnormality of the eyeHP:0000478
  • Abnormality of the kidneyHP:0000077
  • Benign neoplasm of the central nervous systemHP:0100835
  • Hemiplegia/hemiparesisHP:0004374
  • HypercalcemiaHP:0003072
  • Intestinal obstructionHP:0005214
  • Irregular hyperpigmentationHP:0007400
  • Limitation of joint mobilityHP:0001376
  • Neoplasm of the pancreasHP:0002894
  • OsteolysisHP:0002797
  • Skin ulcerHP:0200042
  • Tracheoesophageal fistulaHP:0002575