Disease (OMIM:608836):
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Carnitine palmitoyltransferase II deficiency, lethal neonatal

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011936
hpo_term: Decreased plasma total carnitine
chpo_term: 血浆总肉碱降低
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0008293
hpo_term: Long-chain dicarboxylic aciduria
chpo_term: 长链二羧基酸尿症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0006799
hpo_term: Basal ganglia cysts
chpo_term: 基底节囊肿
id: HP:0001403
hpo_term: Macrovesicular hepatic steatosis
chpo_term: 大泡性肝脂肪变性
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0003455
hpo_term: Elevated circulating long chain fatty acid concentration
chpo_term: 长链脂肪酸水平升高
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0032066
hpo_term: Decreased serum bicarbonate concentration
chpo_term: 血清碳酸氢盐浓度降低
id: HP:0007023
hpo_term: Antenatal intracerebral hemorrhage
chpo_term: 产前脑出血
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008315
hpo_term: Decreased plasma free carnitine
chpo_term: 血浆游离肉碱降低
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0007229
hpo_term: Intracerebral periventricular calcifications
chpo_term: 颅内脑室周围钙化
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0006559
hpo_term: Hepatic calcification
chpo_term: 肝钙化
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0011309
hpo_term: Tapered toe
chpo_term: 锥形趾
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0001958
hpo_term: Nonketotic hypoglycemia
chpo_term: 非酮症性低血糖
id: HP:0006561
hpo_term: Lipid accumulation in hepatocytes
chpo_term: 肝细胞内脂质堆积
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高