Disease (ORPHA:20):
Hydroxymethylglutaric aciduria
HMG-CoA lyase deficiency
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Associated phenotypes (HPO):
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001958
hpo_term: Nonketotic hypoglycemia
chpo_term: 非酮症性低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0003344
hpo_term: 3-Methylglutaric aciduria
chpo_term: 3-甲基戊二酸尿症
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
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:0006561
hpo_term: Lipid accumulation in hepatocytes
chpo_term: 肝细胞内脂质堆积
id: HP:0006582
hpo_term: Reye syndrome-like episodes
chpo_term: Reye综合征样发作
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001325
hpo_term: Hypoglycemic coma
chpo_term: 低血糖昏迷
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0011099
hpo_term: Spastic hemiparesis
chpo_term: 痉挛性偏瘫