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Mixed connective tissue disease

ORPHA:809 · Disease · Disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(12)

  • ArthritisHP:0001369
  • AutoimmunityHP:0002960
  • Chest painHP:0100749
  • DyspneaHP:0002094
  • Elevated erythrocyte sedimentation rateHP:0003565
  • FatigueHP:0012378
  • GastritisHP:0005263
  • Gastroesophageal refluxHP:0002020
  • MyalgiaHP:0003326
  • Pulmonary fibrosisHP:0002206
  • SclerodermaHP:0100324
  • Skin rashHP:0000988

Frequent (79-30%)(19)

  • Anti-cyclic citrullinated peptide antibody positivityHP:0034092
  • Anti-dsDNA antibody positivityHP:0020151
  • Anti-ribosome Po antibody positivityHP:0034076
  • Anti-Ro52/TRIM21 antibody positivityHP:0034093
  • Anti-U1 ribonucleoprotein antibody positivityHP:0033028
  • ArthralgiaHP:0002829
  • Edema of the dorsum of handsHP:0007514
  • FeverHP:0001945
  • Increased circulating immunoglobulin concentrationHP:0010702
  • Joint swellingHP:0001386
  • Keratoconjunctivitis siccaHP:0001097
  • MyositisHP:0100614
  • PleuritisHP:0002102
  • PsychosisHP:0000709
  • Raynaud phenomenonHP:0030880
  • Rheumatoid factor positiveHP:0002923
  • SclerodactylyHP:0011838
  • Trigeminal neuralgiaHP:0100661
  • XerostomiaHP:0000217

Occasional (29-5%)(37)

  • Abnormal EKGHP:0003115
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Abnormality on pulmonary function testingHP:0030878
  • AlopeciaHP:0001596
  • AnasarcaHP:0012050
  • Avascular necrosisHP:0010885
  • Decreased total leukocyte countHP:0001882
  • DepressionHP:0000716
  • Erythema nodosumHP:0012219
  • Gastrointestinal hemorrhageHP:0002239
  • HeadacheHP:0002315
  • Hearing impairmentHP:0000365
  • Hemolytic anemiaHP:0001878
  • HypoproteinemiaHP:0003075
  • Ineffective esophageal peristalsisHP:0031857
  • Joint stiffnessHP:0001387
  • LymphadenopathyHP:0002716
  • MalaiseHP:0033834
  • Malar rashHP:0025300
  • Mediastinal lymphadenopathyHP:0100721
  • Membranous nephropathyHP:0012578
  • MyocarditisHP:0012819
  • NephropathyHP:0000112
  • Non-infectious meningitisHP:0033430
  • Oral ulcerHP:0000155
  • OsteolysisHP:0002797
  • Pericardial effusionHP:0001698
  • PericarditisHP:0001701
  • Peripheral neuropathyHP:0009830
  • Prolonged bleeding timeHP:0003010
  • ProteinuriaHP:0000093
  • Pulmonary arterial hypertensionHP:0002092
  • PurpuraHP:0000979
  • SeizureHP:0001250
  • SplenomegalyHP:0001744
  • TelangiectasiaHP:0001009
  • ThrombocytopeniaHP:0001873