Disease (OMIM:222470):
TRICHOHEPATOENTERIC SYNDROME 1
Trichohepatoenteric syndrome 1

Associated phenotypes (HPO):
id: HP:0003235
hpo_term: Hypermethioninemia
chpo_term: 高甲硫胺酸血症
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0012023
hpo_term: Galactosuria
chpo_term: 半乳糖尿症
id: HP:0012024
hpo_term: Hypergalactosemia
chpo_term: 高半乳糖血症
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001732
hpo_term: Abnormality of the pancreas
chpo_term: 胰腺异常
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001194
hpo_term: Abnormalities of placenta or umbilical cord
chpo_term: 胎盘和脐带的异常
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002041
hpo_term: Intractable diarrhea
chpo_term: 顽固性腹泻
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011877
hpo_term: Increased mean platelet volume
chpo_term: 平均血小板体积增大
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0004734
hpo_term: Renal cortical microcysts
chpo_term: 肾皮质微小囊肿
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0011031
hpo_term: Abnormality of iron homeostasis
chpo_term: 铁紊乱
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓