Disease (OMIM:309000):
LOWE OCULOCEREBRORENAL SYNDROME
Lowe syndrome

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0004639
hpo_term: Elevated amniotic fluid alpha-fetoprotein
chpo_term: 羊水甲胎蛋白升高
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007109
hpo_term: Periventricular cysts
chpo_term: 脑室周围囊肿
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0025131
hpo_term: Finger swelling
chpo_term: 手指肿胀
id: HP:0007948
hpo_term: Dense posterior cortical cataract
chpo_term: 密集的后皮质性白内障
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011432
hpo_term: High maternal circulating alpha-fetoprotein concentration
chpo_term: 母体循环甲胎蛋白水平高
id: HP:6000615
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0003646
hpo_term: Bicarbonaturia
chpo_term: 尿重碳酸氢盐增多
id: HP:0001225
hpo_term: Wrist swelling
chpo_term: 腕肿胀
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0003148
hpo_term: Elevated serum acid phosphatase
chpo_term: 血清酸性磷酸酶升高
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0002049
hpo_term: Proximal renal tubular acidosis
chpo_term: 近端肾小管酸中毒