Disease (ORPHA:731):
Autosomal recessive polycystic kidney disease
AR-PKD

Associated phenotypes (HPO):
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0004905
hpo_term: Low levels of vitamin A
chpo_term: 维生素A缺乏症
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0006560
hpo_term: Biliary hyperplasia
chpo_term: 胆管增生
id: HP:0011040
hpo_term: Abnormal intrahepatic bile duct morphology
chpo_term: 肝内胆管形态异常
id: HP:0011892
hpo_term: Low levels of vitamin K
chpo_term: 维生素K缺乏症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0100513
hpo_term: Low levels of vitamin E
chpo_term: 维生素E缺乏症
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0002884
hpo_term: Hepatoblastoma
chpo_term: 肝母细胞瘤
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0030153
hpo_term: Cholangiocarcinoma
chpo_term: 胆管癌
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害