Disease (ORPHA:1454):
Joubert syndrome with congenital hepatic fibrosis
JS-H
Joubert syndrome with hepatic defect
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
COACH syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0005248
hpo_term: Intrahepatic biliary atresia
chpo_term: 肝内胆道闭锁
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0100626
hpo_term: Chronic hepatic failure
chpo_term: 慢性肝功能衰竭