Disease (OMIM:219800):
CYSTINOSIS, NEPHROPATHIC
Cystinosis, nephropathic

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0032639
hpo_term: Elevated leukocyte cystine
chpo_term: 白细胞胱氨酸升高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0000832
hpo_term: Primary hypothyroidism
chpo_term: 原发性甲状腺功能减退症
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0004911
hpo_term: Episodic metabolic acidosis
chpo_term: 阵发性代谢性酸中毒
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002909
hpo_term: Generalized aminoaciduria
chpo_term: 全谱氨基酸尿
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0003358
hpo_term: Elevated intracellular cystine
chpo_term: 胞内胱氨酸浓度升高
id: HP:0030190
hpo_term: Oral motor hypotonia
chpo_term: 口腔运动肌张力减退
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0031969
hpo_term: Reduced blood urea nitrogen
chpo_term: 血液尿素氮降低
id: HP:0012408
hpo_term: Medullary nephrocalcinosis
chpo_term: 肾髓质钙化症
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000897
hpo_term: Rachitic rosary
chpo_term: 佝偻病念珠
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:6001033
id: HP:6001032
id: HP:6001031
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石