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Xeroderma pigmentosum

ORPHA:910 · Disease · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(20)

  • Abnormality of the dentitionHP:0000164
  • ArthralgiaHP:0002829
  • Cognitive impairmentHP:0100543
  • Conjunctival telangiectasiaHP:0000524
  • Cutaneous photosensitivityHP:0000992
  • Developmental regressionHP:0002376
  • Dry skinHP:0000958
  • EEG abnormalityHP:0002353
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • FeverHP:0001945
  • FrecklingHP:0001480
  • HypogonadismHP:0000135
  • Intellectual disability, progressiveHP:0006887
  • Optic atrophyHP:0000648
  • PoikilodermaHP:0001029
  • TelangiectasiaHP:0001009
  • Telangiectasia of the skinHP:0100585
  • Thickened skinHP:0001072
  • Thin skinHP:0000963

Frequent (79-30%)(13)

  • CataractHP:0000518
  • CryptorchidismHP:0000028
  • Dermal atrophyHP:0004334
  • ErythemaHP:0010783
  • HyperkeratosisHP:0000962
  • Hypermelanotic maculeHP:0001034
  • Hypopigmented skin patchesHP:0001053
  • KeratitisHP:0000491
  • MaculeHP:0012733
  • MelanomaHP:0002861
  • PapillomaHP:0012740
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486

Occasional (29-5%)(26)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • AlopeciaHP:0001596
  • AminoaciduriaHP:0003355
  • AnkyloblepharonHP:0009755
  • AtaxiaHP:0001251
  • BlepharitisHP:0000498
  • Cerebral cortical atrophyHP:0002120
  • Craniofacial hyperostosisHP:0004493
  • Decreased testicular sizeHP:0008734
  • Delayed skeletal maturationHP:0002750
  • Diminished deep tendon reflexHP:0001315
  • EctropionHP:0000656
  • EntropionHP:0000621
  • Flat nasal alaeHP:0010649
  • Hearing impairmentHP:0000365
  • Melanocytic nevusHP:0000995
  • MicrocephalyHP:0000252
  • NeoplasmHP:0002664
  • Neoplasm of the eyeHP:0100012
  • Opacification of the corneal stromaHP:0007759
  • Peripheral neuropathyHP:0009830
  • PhotophobiaHP:0000613
  • PterygiumHP:0001059
  • SeizureHP:0001250
  • Short statureHP:0004322
  • SpasticityHP:0001257