Disease (ORPHA:89936):
X-linked hypophosphatemic rickets
X-linked hypophosphatemia
XLH

Associated phenotypes (HPO):
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0008117
hpo_term: Shortening of the talar neck
chpo_term: 距骨颈短缩
id: HP:0008144
hpo_term: Flattening of the talar dome
chpo_term: 扁平的距骨圆顶
id: HP:0010299
hpo_term: Abnormal dentin morphology
chpo_term: 牙本质形态异常
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0030757
hpo_term: Tooth abscess
chpo_term: 牙脓肿
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000867
hpo_term: Secondary hyperparathyroidism
chpo_term: 继发性甲状旁腺功能亢进症
id: HP:0000920
hpo_term: Enlargement of the costochondral junction
chpo_term: 肋软骨交界处膨大
id: HP:0006640
hpo_term: Multiple rib fractures
chpo_term: 多发性肋骨骨折
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0006432
hpo_term: Trapezoidal distal femoral condyles
chpo_term: 股骨远端楔形髁突
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0008442
hpo_term: Vertebral hyperostosis
chpo_term: 椎体骨质增生
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012449
hpo_term: Sacroiliac joint synovitis
chpo_term: 骶髂关节滑膜炎
id: HP:0025369
hpo_term: Thick growth plates
chpo_term: 生长板增厚
id: HP:0100686
hpo_term: Enthesitis
chpo_term: 附着点炎
id: HP:6000407
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0005789
hpo_term: Generalized osteosclerosis
chpo_term: 周身性骨硬化
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0000117
hpo_term: Renal phosphate wasting
chpo_term: 肾源性磷酸盐流失
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0003127
hpo_term: Hypocalciuria
chpo_term: 低钙尿症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0006490
hpo_term: Abnormal lower-limb metaphysis morphology
chpo_term: 下肢干骺端形态异常
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000694
hpo_term: Odontodysplasia
chpo_term: 空壳牙
id: HP:0000897
hpo_term: Rachitic rosary
chpo_term: 佝偻病念珠
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0003856
hpo_term: Upper limb metaphyseal widening
chpo_term: 上肢干骺端增宽
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常