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Dyskeratosis congenita

ORPHA:1775 · Disease · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(9)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal fingernail morphologyHP:0001231
  • Abnormality of neutrophilsHP:0001874
  • AnemiaHP:0001903
  • Hypermelanotic maculeHP:0001034
  • MaculeHP:0012733
  • Nail dystrophyHP:0008404
  • Oral leukoplakiaHP:0002745
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(29)

  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormality of coagulationHP:0001928
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the pharynxHP:0000600
  • Anorectal anomalyHP:0012732
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Aplastic/hypoplastic toenailHP:0010624
  • Bone marrow hypocellularityHP:0005528
  • Carious teethHP:0000670
  • Cellular immunodeficiencyHP:0005374
  • Coarse metaphyseal trabecularizationHP:0100670
  • Esophageal stenosisHP:0010450
  • Global developmental delayHP:0001263
  • HyperhidrosisHP:0000975
  • HypodontiaHP:0000668
  • Hypopigmented skin patchesHP:0001053
  • Intrauterine growth retardationHP:0001511
  • MalabsorptionHP:0002024
  • NeoplasmHP:0002664
  • PeriodontitisHP:0000704
  • Recurrent fracturesHP:0002757
  • Recurrent respiratory infectionsHP:0002205
  • Short statureHP:0004322
  • Skin ulcerHP:0200042
  • Sparse hairHP:0008070
  • TaurodontiaHP:0000679
  • Telangiectasia of the skinHP:0100585
  • Tracheoesophageal fistulaHP:0002575
  • Urethral stenosisHP:0008661

Occasional (29-5%)(24)

  • Abnormal eyebrow morphologyHP:0000534
  • Abnormal eyelash morphologyHP:0000499
  • Abnormal testis morphologyHP:0000035
  • AlopeciaHP:0001596
  • Avascular necrosisHP:0010885
  • BlepharitisHP:0000498
  • CataractHP:0000518
  • Cerebral calcificationHP:0002514
  • CirrhosisHP:0001394
  • Diabetes mellitusHP:0000819
  • Displacement of the urethral meatusHP:0100627
  • Hearing impairmentHP:0000365
  • Hepatic failureHP:0001399
  • HepatomegalyHP:0002240
  • Hypoplasia of the maxillaHP:0000327
  • LymphomaHP:0002665
  • Neoplasm of the pancreasHP:0002894
  • OsteoporosisHP:0000939
  • Palmoplantar keratodermaHP:0000982
  • Premature graying of hairHP:0002216
  • ScoliosisHP:0002650
  • Skin vesicleHP:0200037
  • SplenomegalyHP:0001744
  • White hairHP:0011364