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Cystinosis
ORPHA:213 · Disease · Disorder
HPO 表現型（共 56 項）
Very frequent (99-80%)(21)
- AminoaciduriaHP:0003355
- Corneal opacityHP:0007957
- DehydrationHP:0001944
- Delayed pubertyHP:0000823
- Failure to thriveHP:0001508
- FatigueHP:0012378
- HypokalemiaHP:0002900
- HypophosphatemiaHP:0002148
- HypothyroidismHP:0000821
- Muscle weaknessHP:0001324
- MyopathyHP:0003198
- Nephrogenic diabetes insipidusHP:0009806
- NephropathyHP:0000112
- PhotophobiaHP:0000613
- PolydipsiaHP:0001959
- ProteinuriaHP:0000093
- Renal Fanconi syndromeHP:0001994
- Renal tubular dysfunctionHP:0000124
- Short statureHP:0004322
- Type I diabetes mellitusHP:0100651
- VomitingHP:0002013
Frequent (79-30%)(18)
- AciduriaHP:0012072
- Band keratopathyHP:0000585
- Elevated circulating alkaline phosphatase concentrationHP:0003155
- EMG: myopathic abnormalitiesHP:0003458
- Feeding difficultiesHP:0011968
- GlycosuriaHP:0003076
- Growth delayHP:0001510
- HepatomegalyHP:0002240
- HyperphosphaturiaHP:0003109
- HypocalcemiaHP:0002901
- HypogonadismHP:0000135
- Kidney stoneHP:0000787
- NephrocalcinosisHP:0000121
- OsteomalaciaHP:0002749
- Renal insufficiencyHP:0000083
- RetinopathyHP:0000488
- RicketsHP:0002748
- SplenomegalyHP:0001744
Occasional (29-5%)(17)
- Abnormality of endocrine pancreas physiologyHP:0012093
- AphasiaHP:0002381
- AzoospermiaHP:0000027
- ConstipationHP:0002019
- Cranial nerve paralysisHP:0006824
- Decreased circulating carnitine concentrationHP:0003234
- Exocrine pancreatic insufficiencyHP:0001738
- FeverHP:0001945
- Gait disturbanceHP:0001288
- Glucose intoleranceHP:0001952
- HyponatremiaHP:0002902
- HypotoniaHP:0001252
- MalabsorptionHP:0002024
- Metabolic acidosisHP:0001942
- Mild intellectual disabilityHP:0001256
- Portal hypertensionHP:0001409
- Visual impairmentHP:0000505