Disease (ORPHA:23):
ASL deficiency
Argininosuccinic aciduria
ASA deficiency
Argininosuccinase deficiency
Argininosuccinic acid lyase deficiency
Argininosuccinatelyase deficiency

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001950
hpo_term: Respiratory alkalosis
chpo_term: 呼吸性碱中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0011966
hpo_term: Elevated plasma citrulline
chpo_term: 血浆瓜氨酸升高
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0025630
hpo_term: Argininosuccinic aciduria
chpo_term: 精氨酸琥珀酸酯尿症
id: HP:0032470
hpo_term: Monilethrix
chpo_term: 念珠状发
id: HP:0032491
hpo_term: Increased circulating argininosuccinic acid
chpo_term: 血液精氨酸琥珀酸增加
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003218
hpo_term: Oroticaciduria
chpo_term: 乳清酸尿症
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0006280
hpo_term: Chronic pancreatitis
chpo_term: 慢性胰腺炎
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007183
hpo_term: Focal T2 hyperintense basal ganglia lesion
chpo_term: 基底节局灶性T2高信号病变
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0003217
hpo_term: Hyperglutaminemia
chpo_term: 高谷氨酰胺血症
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症