Disease (OMIM:619991):
LIVER DISEASE, SEVERE CONGENITAL
Liver disease, severe congenital

Associated phenotypes (HPO):
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0100814
hpo_term: Blue nevus
chpo_term: 蓝痣
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0005231
hpo_term: Chronic gastritis
chpo_term: 慢性胃炎
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0033193
hpo_term: Ballooning hepatocyte degeneration
chpo_term: 气球样肝细胞变性
id: HP:0033196
hpo_term: Portal inflammation
chpo_term: 门脉区炎症
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
id: HP:0006698
hpo_term: Dilatation of the ventricular cavity
chpo_term: 心室腔扩张
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0025631
hpo_term: Alpha-aminobutyric aciduria
chpo_term: α-氨基丁酸尿
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0033994
hpo_term: Dependency on parenteral nutrition
chpo_term: 依赖肠外营养
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0006560
hpo_term: Biliary hyperplasia
chpo_term: 胆管增生
id: HP:0009797
hpo_term: Cholesteatoma
chpo_term: 胆脂瘤
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0004488
hpo_term: Macrocephaly at birth
chpo_term: 出生时巨头畸形
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0031508
hpo_term: Abnormal circulating thyroid hormone concentration
chpo_term: 循环甲状腺素异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0100327
hpo_term: Cow milk allergy
chpo_term: 牛奶过敏
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0025053
hpo_term: Elevated brain N-acetyl aspartate level by MRS
chpo_term: MRS分析大脑N-乙酰天门冬氨酸水平升高
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012653
hpo_term: Status asthmaticus
chpo_term: 哮喘持续状态
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
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:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0031142
hpo_term: Abnormal hepatic echogenicity
chpo_term: 肝脏回声异常
id: HP:0004905
hpo_term: Low levels of vitamin A
chpo_term: 维生素A缺乏症
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损