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X-linked hypophosphatemia
ORPHA:89936 · Disease · Disorder
HPO 表現型（共 52 項）
Very frequent (99-80%)(6)
- Abnormal lower-limb metaphysis morphologyHP:0006490
- Elevated circulating alkaline phosphatase concentrationHP:0003155
- HypocalciuriaHP:0003127
- HypophosphatemiaHP:0002148
- Renal phosphate wastingHP:0000117
- RicketsHP:0002748
Frequent (79-30%)(20)
- Abnormal dentin morphologyHP:0010299
- Abnormal epiphysis morphologyHP:0005930
- ArthralgiaHP:0002829
- Bone painHP:0002653
- Bowing of the legsHP:0002979
- Bowing of the long bonesHP:0006487
- Delayed ability to standHP:0025335
- Delayed ability to walkHP:0031936
- Disproportionate short statureHP:0003498
- Flattening of the talar domeHP:0008144
- Genu valgumHP:0002857
- Genu varumHP:0002970
- Growth delayHP:0001510
- NephrocalcinosisHP:0000121
- OdontodysplasiaHP:0000694
- Rachitic rosaryHP:0000897
- Reduced bone mineral densityHP:0004349
- Shortening of the talar neckHP:0008117
- Tooth abscessHP:0030757
- Upper limb metaphyseal wideningHP:0003856
Occasional (29-5%)(23)
- ArthritisHP:0001369
- Chiari type I malformationHP:0007099
- CraniosynostosisHP:0001363
- DysphagiaHP:0002015
- Elevated circulating fibroblast growth factor 23 concentrationHP:6000407
- Enlargement of the costochondral junctionHP:0000920
- EnthesitisHP:0100686
- FatigueHP:0012378
- Flared iliac wingHP:0002869
- Frontal bossingHP:0002007
- Kidney stoneHP:0000787
- Limitation of joint mobilityHP:0001376
- Multiple rib fracturesHP:0006640
- Muscle weaknessHP:0001324
- Sacroiliac joint synovitisHP:0012449
- Secondary hyperparathyroidismHP:0000867
- Sleep disturbanceHP:0002360
- Spinal canal stenosisHP:0003416
- Spinal cord compressionHP:0002176
- Thick growth platesHP:0025369
- TinnitusHP:0000360
- Trapezoidal distal femoral condylesHP:0006432
- Vertebral hyperostosisHP:0008442
Very rare (<4-1%)(3)
- CellulitisHP:0100658
- Generalized osteosclerosisHP:0005789
- Sensorineural hearing impairmentHP:0000407