The-Welcomer/rare_bench_dataset · Datasets at Hugging Face

RareDisease stringclasses 74 values	Phenotype stringlengths 46 1.23k
Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	['Microcephaly', 'Intellectual disability', 'Lethargy', 'Death in infancy', 'Bradycardia', 'Hyperammonemia', 'Apnea', 'Cerebral edema', 'Drowsiness', 'Sleep disturbance', 'Hypotension', 'Hyperglutaminemia', 'Low plasma citrulline', 'Neonatal death', 'Recurrent viral infections']
PMM2-CDG/Congenital disorder of glycosylation, type Ia	['Strabismus', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Cerebellar atrophy', 'Obesity', 'Death in infancy', 'Thromboembolism', 'Death in childhood', 'Cerebellar agenesis']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Hernia']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']
PMM2-CDG/Congenital disorder of glycosylation, type Ia	['Cerebellar atrophy', 'Failure to thrive', 'Death in infancy', 'Thromboembolism', 'Neonatal death', 'Cerebellar agenesis']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	['Apathy', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Hyperammonemia', 'Vomiting', 'Pneumonia', 'Hepatomegaly', 'Dicarboxylic aciduria', '3-Methylglutaconic aciduria', 'Decreased plasma free carnitine', 'Abnormal circulating glycine concentration', 'Abnormal circulating acetylcarnitine concentration', 'Elevated urinary carboxylic acid']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia	['Lethargy', 'Coma', 'Generalized hypotonia', 'Death in infancy', 'Thrombocytopenia', 'Anemia', 'Vomiting', 'Dyspnea', 'Drowsiness', 'Sleep disturbance', 'Hypocalcemia', 'Neonatal death', 'Abnormality of acid-base homeostasis', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']
PMM2-CDG/Congenital disorder of glycosylation, type Ia	['Intellectual disability', 'Ataxia', 'Cerebellar atrophy', 'Death in infancy', 'Thromboembolism', 'Death in childhood', 'Cerebellar agenesis']
Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	['Death in infancy', 'Hyperammonemia', 'Oroticaciduria', 'Neonatal death']
Classic galactosemia/GALACTOSEMIA	['Microcephaly', 'Delayed speech and language development', 'Syndactyly', 'Intellectual disability', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Failure to thrive', 'Death in infancy', 'Premature birth', 'Anemia', 'Abnormal facial shape', 'Opisthotonus', 'Abnormal calvaria morphology', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating porphyrin concentration', 'Hypergalactosemia']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Ataxia', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria']
酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I	['Hyperinsulinemia', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypoglycemia', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration']
Isolated glycerol kinase deficiency/Glycerol kinase deficiency	['Spasticity', 'Hyporeflexia', 'Generalized hypotonia', 'Death in infancy', 'Neonatal death', 'Abnormal circulating creatine kinase concentration', 'Increased urinary glycerol']
PMM2-CDG/Congenital disorder of glycosylation, type Ia	['Rod-cone dystrophy', 'Ophthalmoplegia', 'Abnormality of visual evoked potentials', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Death in infancy', 'Cerebellar agenesis']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']
原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary	['Cardiomyopathy', 'Fever', 'Abnormality of urine homeostasis', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine']
Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	['Abnormal saccadic eye movements', 'Lethargy', 'Spasticity', 'Death in infancy', 'Bradycardia', 'Hyperammonemia', 'Vomiting', 'Apnea', 'Drowsiness', 'Sleep disturbance', 'Hyperglutaminemia', 'Oroticaciduria', 'Low plasma citrulline', 'Neonatal death']
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	['Death in infancy', 'Metabolic acidosis', 'Decreased methylmalonyl-CoA mutase activity']
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome	['Hypospadias', 'Microcephaly', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia']
3-Methylcrotonyl-CoA carboxylase 1 deficiency	['Hyperhidrosis', 'Death in infancy', 'Cardiomyopathy', 'Cardiomegaly', 'Hypotension', 'Tachypnea', 'Aminoaciduria', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']
生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset	['Eczematoid dermatitis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Generalized hypotonia', 'Death in infancy', 'Increased serum lactate', 'Neonatal death', 'Death in childhood']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Hypercholesterolemia', 'Hypertyrosinemia', 'Aminoaciduria', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood']
PMM2-CDG/Congenital disorder of glycosylation, type Ia	['Nephritis', 'Syncope', 'Death in infancy', 'Premature birth', 'Vomiting', 'Diarrhea', 'Elevated hepatic transaminase', 'Neonatal death', 'Death in childhood']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	['Hypertension', 'Secondary hyperparathyroidism', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Cardiomyopathy', 'Anemia', 'Acute kidney injury', 'Hyperammonemia', 'Vomiting', 'Hyperuricemia', 'Hyperglycinemia', 'Tachypnea', 'Methylmalonic acidemia', 'Increased blood urea nitrogen', 'Decreased methylmalonyl-CoA mutase activity', 'Elevated circulating creatinine concentration', 'Hyperalaninemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Decreased plasma free carnitine', 'Abnormal circulating porphyrin concentration', 'Death in adolescence', 'Feeding difficulties', 'Methylmalonic aciduria', 'Chronic kidney disease']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Seizure', 'Lethargy', 'Areflexia', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Fever', 'Dyspnea', 'Hyperglycinemia', 'Opisthotonus', 'Drowsiness', 'Sleep disturbance', 'Fasciculations', 'Glutaric aciduria', 'Hyperglutaminemia', 'Elevated circulating glutaric acid concentration', 'Abnormal circulating carnitine concentration', 'Feeding difficulties']
Citrullinemia type I/Citrullinemia, classic	['Lethargy', 'Death in infancy', 'Fever', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Neonatal death', 'Recurrent viral infections', 'Elevated plasma citrulline']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']
生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset	['Macrocephaly', 'Hypohidrosis', 'Eczematoid dermatitis', 'Skin rash', 'Generalized hypotonia', 'Death in infancy', 'Alopecia', 'Metabolic acidosis', 'Neonatal death', 'Arrhythmia', 'Elevated urinary carboxylic acid']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Eczematoid dermatitis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']
Acute intermittent porphyria/Porphyria, acute intermittent	['Vomiting', 'Abdominal pain', 'Death in childhood']
全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency	['Apathy', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Increased serum lactate', 'Tachypnea', 'Decreased pyruvate carboxylase activity', 'Propionyl-CoA carboxylase deficiency', 'Aminoaciduria', 'Decreased plasma free carnitine', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']
3-Methylcrotonyl-CoA carboxylase 1 deficiency	['Death in infancy', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid']
异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia	['Intellectual disability', 'Obesity', 'Hyperalaninemia', 'Abnormal circulating glycine concentration', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Abnormal circulating carnitine concentration', 'Death in adolescence']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Increased total bilirubin', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']
PMM2-CDG/Congenital disorder of glycosylation, type Ia	['Intellectual disability', 'Motor delay', 'Cerebellar atrophy', 'Death in infancy', 'Hypoproteinemia', 'Hypocholesterolemia', 'Lipodystrophy', 'Cerebellar agenesis', 'Acute hepatitis', 'Chronic hepatitis']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Ataxia', 'Spasticity', 'Death in infancy', 'Fever', 'Glutaric aciduria']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Seborrheic dermatitis', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Nystagmus', 'Ataxia', 'Reduced tendon reflexes', 'Increased serum lactate', 'Increased CSF lactate', 'Glutaric aciduria', 'Increased serum pyruvate', 'Decreased plasma free carnitine', 'Abnormal immunoglobulin level', 'Hyperalbuminemia', 'Occipital neuralgia', 'Death in early adulthood']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Decreased circulating ferritin concentration']
Carnitine-acylcarnitine translocase deficiency/Carnitine-acylcarnitine translocase deficiency	['Apathy', 'Cyanosis', 'Generalized hypotonia', 'Death in infancy', 'Bradycardia', 'Hypoglycemia', 'Hyperammonemia', 'Dicarboxylic aciduria', 'Neonatal death']
生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset	['Lethargy', 'Spasticity', 'Generalized hypotonia', 'Death in infancy', 'Anemia', 'Organic aciduria', 'Drowsiness', 'Sleep disturbance']
PMM2-CDG/Congenital disorder of glycosylation, type Ia	['Congenital diaphragmatic hernia', 'Intellectual disability', 'Motor delay', 'Failure to thrive', 'Death in infancy', 'Hiatus hernia', 'Cerebral atrophy', 'Lipodystrophy', 'Abnormal muscle physiology']
Argininosuccinic aciduria/Argininosuccinic aciduria	['Seizure', 'Coma', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Increased serum lactate', 'Hepatomegaly', 'Tachypnea', 'Neonatal death', 'Feeding difficulties', 'Functional abnormality of the gastrointestinal tract', 'Metabolic alkalosis']
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	['Cataract', 'Hip dysplasia', 'Small for gestational age', 'Death in infancy', 'Premature birth', 'Anemia', 'Hyperammonemia', 'Elevated circulating creatinine concentration', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Methylmalonic aciduria', 'Death in early adulthood']
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency	['Delayed speech and language development', 'Hyperactivity', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Difficulty walking', 'Difficulty climbing stairs', 'Death in childhood', 'Difficulty running', 'Elevated urinary carboxylic acid']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid', 'Death in early adulthood']
Krabbe disease	['Petechiae', 'Intellectual disability', 'Spastic diplegia', 'Motor delay', 'Areflexia', 'Generalized hypotonia', 'Failure to thrive', 'Death in infancy', 'Vomiting', 'Diarrhea', 'Opisthotonus', 'Abnormal cerebral white matter morphology', 'Spastic tetraplegia', 'Increased CSF protein concentration', 'Neonatal death', 'Death in childhood', 'Decreased beta-galactosidase activity', 'Peripheral demyelination', 'Feeding difficulties', 'Dyskinesia']
鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to	['Atypical behavior', 'Hyperactivity', 'Intellectual disability', 'Coma', 'Motor delay', 'Hepatic failure', 'Weight loss', 'Fever', 'Hyperammonemia', 'Vomiting', 'Cerebral cortical atrophy', 'Difficulty walking', 'Hyperglutaminemia', 'Oroticaciduria', 'Difficulty climbing stairs', 'Death in childhood', 'Difficulty running', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Death in adolescence']
中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of	['Coma', 'Hepatic steatosis', 'Death in infancy', 'Vomiting', 'Cerebral edema', 'Abnormal circulating acetylcarnitine concentration']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Hypospadias', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Esophageal atresia', 'Upper airway obstruction', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Chronic pulmonary obstruction', 'Death in adolescence', 'Death in early adulthood']
中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of	['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Microcephaly', 'Self-mutilation', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Death in infancy', 'Hypertyrosinemia', 'Severe short stature', 'Hyperphenylalaninemia', 'Death in adolescence']
Mitochondrial complex IV deficiency, nuclear type 1	['Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Respiratory insufficiency', 'Increased serum lactate', 'Drowsiness', 'Sleep disturbance', 'Dicarboxylic aciduria', 'Cytochrome C oxidase-negative muscle fibers', 'Neonatal death', 'Elevated urinary carboxylic acid']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']
Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset	['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Elevated plasma citrulline']
酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I	['Polyuria', 'Hyperactivity', 'Abnormality of prenatal development or birth', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Tachycardia', 'Hypoglycemia', 'Hypophosphatemia', 'Hyperglycinemia', 'Hypokalemia', 'Hyponatremia', 'Hypomagnesemia', 'Hypochloremia', 'Elevated circulating alkaline phosphatase concentration', '4-Hydroxyphenylpyruvic aciduria', 'Hyperglutaminemia', 'Hypertyrosinemia', 'Hypermethioninemia', 'Paresthesia', 'Elevated calcitonin', '4-hydroxyphenylacetic aciduria', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration', 'Paraplegia/paraparesis', 'Death in adolescence']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Delayed speech and language development', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia', 'Abnormal circulating porphyrin concentration', 'Death in adolescence']
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria	['Macrocephaly', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Obesity', 'Large for gestational age', 'Death in infancy', 'Abnormal cerebral morphology', 'Neonatal death', 'Death in childhood', 'Abnormal circulating lysine concentration', 'L-2-hydroxyglutaric aciduria']
Citrullinemia type I/Citrullinemia, classic	['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Motor delay', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Death in adolescence', 'Elevated plasma citrulline']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Delayed speech and language development', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Hypertyrosinemia', 'Severe short stature', 'Death in childhood', 'Hyperphenylalaninemia']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']
生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset	['Seborrheic dermatitis', 'Death in infancy', 'Increased serum lactate', 'Fair hair', 'Brittle hair', 'Hyperalaninemia', 'Neonatal death', 'Death in childhood', 'White hair', 'Death in adolescence']
Carnitine palmitoyl transferase 1A deficiency/Carnitine palmitoyltransferase I deficiency	['Hypertelorism', 'Low-set ears', 'Wide nasal bridge', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Excessive salivation', 'Neonatal death', 'Abnormal circulating acetylcarnitine concentration', 'Severe hearing impairment', 'Abnormal circulating creatine kinase concentration']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']
鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to	['Seizure', 'Spasticity', 'Death in infancy', 'Hyperammonemia', 'Increased serum lactate', 'Tachypnea', 'Oroticaciduria', 'Neonatal death', 'Elevated circulating acylcarnitine concentration']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Generalized hypotonia', 'Death in infancy', 'Athetosis', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Recurrent viral infections', 'Feeding difficulties']
鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to	['Death in infancy', 'Hyperammonemia', 'Oroticaciduria', 'Short stature']
极长链酰基辅酶 A 脱氢酶缺乏症/Very long chain acyl-CoA dehydrogenasedeficiency; VLCADD/Very long chain acyl-CoA dehydrogenase deficiency/Very long-chain acyl-CoA dehydrogenase deficiency	['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Abnormal circulating carnitine concentration']
Citrullinemia type I/Citrullinemia, classic	['Hyperactivity', 'Lethargy', 'Coma', 'Encephalopathy', 'Abnormal cerebellum morphology', 'Dystonia', 'Tachycardia', 'Acute kidney injury', 'Fever', 'Leukocytosis', 'Hyperammonemia', 'Abnormal cerebral morphology', 'Abnormality of extrapyramidal motor function', 'Hyperkalemia', 'Drowsiness', 'Sleep disturbance', 'Elevated hepatic transaminase', 'Hypernatremia', 'Death in childhood', 'Fatigue', 'Chronic kidney disease', 'Dyskinesia']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Fever', 'Diarrhea', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Abnormal circulating aspartate family amino acid concentration', 'Elevated urinary carboxylic acid']
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome	['Low-set ears', 'Anteverted nares', 'Ptosis', 'Delayed speech and language development', 'Hyperactivity', 'Syndactyly', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'High, narrow palate', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Polydactyly', 'Elevated 7-dehydrocholesterol']
Argininosuccinic aciduria/Argininosuccinic aciduria	['Macrocephaly', 'Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Death in infancy', 'Hyperammonemia', 'Opisthotonus', 'Hepatomegaly', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Abnormal circulating proline concentration', 'Abnormal circulating arginine concentration', 'Elevated plasma citrulline', 'Uraciluria']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Obesity', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in early adulthood']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Abnormal circulating porphyrin concentration', 'Death in adolescence', 'Decreased circulating ferritin concentration', 'Elevated urinary carboxylic acid']
Classic galactosemia/GALACTOSEMIA	['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Spasticity', 'Death in infancy', 'Hyperammonemia', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Feeding difficulties', 'Hypergalactosemia']
原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary	['Death in infancy', 'Premature birth', 'Hyperammonemia', 'Hepatomegaly', 'Increased total bilirubin', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating creatine kinase concentration', 'Preeclampsia']
中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of	['Death in infancy', 'Premature birth', 'Hypertriglyceridemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration']
Citrullinemia type I/Citrullinemia, classic	['Coma', 'Hyporeflexia', 'Generalized hypotonia', 'Death in infancy', 'Tachycardia', 'Metabolic acidosis', 'Hyperammonemia', 'Respiratory distress', 'Cerebral edema', 'Fasciculations', 'Increased total bilirubin', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating glutamine concentration', 'Abnormal circulating citrulline concentration']
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency	['Delayed speech and language development', 'Hyperactivity', 'Intellectual disability', 'Death in childhood', 'Death in adolescence', 'Elevated urinary carboxylic acid']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Polycystic ovaries', 'Eczematoid dermatitis', 'Skin rash', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Hypertyrosinemia', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood', 'Pustule']
Acute intermittent porphyria/Porphyria, acute intermittent	['Obesity', 'Abdominal pain', 'Death in childhood']
Isolated glycerol kinase deficiency/Glycerol kinase deficiency	['Cerebellar atrophy', 'Generalized hypotonia', 'Tachycardia', 'Cardiac arrest', 'Skeletal muscle atrophy', 'Death in childhood', 'Recurrent viral infections', 'Aplasia/Hypoplasia involving the musculature of the extremities', 'Cerebellar agenesis', 'Increased urinary glycerol']
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria	['Acne', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence']
中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of	['Coma', 'Death in infancy', 'Premature birth', 'Metabolic acidosis', 'Hypoglycemia', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Death in adolescence', 'Hypoxemia']
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia	['Hyperammonemia', 'Hyperglycinemia', 'Hyperalaninemia', 'Decreased plasma free carnitine']
21-羟化酶缺乏症/21-hydroxylase deficiency; 21-OHD/Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	['Cryptorchidism', 'Self-mutilation', 'Delayed speech and language development', 'Cyanosis', 'Abnormality of skin pigmentation', 'Abnormality of prenatal development or birth', 'Seizure', 'Death in infancy', 'Dehydration', 'Fever', 'Hyperkalemia', 'Hypokalemia', 'Hyponatremia', 'Neonatal death', 'Death in childhood', 'Pigmentation of the sclera', 'Severe hearing impairment', 'Elevated circulating 17-hydroxyprogesterone concentration']
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	['Seizure', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Neonatal death', 'Methylmalonic aciduria']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Macrocephaly', 'Hyperhidrosis', 'Lethargy', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Dyspnea', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria', 'Dyskinesia']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Hydrocephalus', 'High forehead', 'Spasticity', 'Generalized hypotonia', 'Death in infancy', 'Cerebral atrophy', 'Athetosis', 'Glutaric aciduria', 'Death in childhood']
Citrullinemia type I/Citrullinemia, classic	['Hyperactivity', 'Hypertrichosis', 'Intellectual disability', 'Spasticity', 'Coma', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Hyperammonemia', 'Pneumonia', 'Oroticaciduria', 'Ornithinuria', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating glutamine concentration', 'Abnormal circulating arginine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Feeding difficulties', 'Hyperornithinemia', 'Uraciluria', 'Hypoammonemia', 'Death in early adulthood', 'Acute hepatitis', 'Chronic hepatitis']
鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to	['Vomiting', 'Migraine', 'Hyperglutaminemia', 'Oroticaciduria', 'Hyperalaninemia', 'Low plasma citrulline', 'Death in childhood', 'Death in adolescence', 'Uraciluria', 'Decreased circulating ferritin concentration', 'Abnormal vitamin B12 level']
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I	['Macrocephaly', 'Cystic hygroma', 'Death in infancy', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration']

Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to

['Microcephaly', 'Intellectual disability', 'Lethargy', 'Death in infancy', 'Bradycardia', 'Hyperammonemia', 'Apnea', 'Cerebral edema', 'Drowsiness', 'Sleep disturbance', 'Hypotension', 'Hyperglutaminemia', 'Low plasma citrulline', 'Neonatal death', 'Recurrent viral infections']

PMM2-CDG/Congenital disorder of glycosylation, type Ia

['Strabismus', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Cerebellar atrophy', 'Obesity', 'Death in infancy', 'Thromboembolism', 'Death in childhood', 'Cerebellar agenesis']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Hernia']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']

PMM2-CDG/Congenital disorder of glycosylation, type Ia

['Cerebellar atrophy', 'Failure to thrive', 'Death in infancy', 'Thromboembolism', 'Neonatal death', 'Cerebellar agenesis']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']

3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency

['Apathy', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Hyperammonemia', 'Vomiting', 'Pneumonia', 'Hepatomegaly', 'Dicarboxylic aciduria', '3-Methylglutaconic aciduria', 'Decreased plasma free carnitine', 'Abnormal circulating glycine concentration', 'Abnormal circulating acetylcarnitine concentration', 'Elevated urinary carboxylic acid']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']

丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia

['Lethargy', 'Coma', 'Generalized hypotonia', 'Death in infancy', 'Thrombocytopenia', 'Anemia', 'Vomiting', 'Dyspnea', 'Drowsiness', 'Sleep disturbance', 'Hypocalcemia', 'Neonatal death', 'Abnormality of acid-base homeostasis', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']

PMM2-CDG/Congenital disorder of glycosylation, type Ia

['Intellectual disability', 'Ataxia', 'Cerebellar atrophy', 'Death in infancy', 'Thromboembolism', 'Death in childhood', 'Cerebellar agenesis']

Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to

['Death in infancy', 'Hyperammonemia', 'Oroticaciduria', 'Neonatal death']

Classic galactosemia/GALACTOSEMIA

['Microcephaly', 'Delayed speech and language development', 'Syndactyly', 'Intellectual disability', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Failure to thrive', 'Death in infancy', 'Premature birth', 'Anemia', 'Abnormal facial shape', 'Opisthotonus', 'Abnormal calvaria morphology', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating porphyrin concentration', 'Hypergalactosemia']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Ataxia', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria']

酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I

['Hyperinsulinemia', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypoglycemia', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration']

Isolated glycerol kinase deficiency/Glycerol kinase deficiency

['Spasticity', 'Hyporeflexia', 'Generalized hypotonia', 'Death in infancy', 'Neonatal death', 'Abnormal circulating creatine kinase concentration', 'Increased urinary glycerol']

PMM2-CDG/Congenital disorder of glycosylation, type Ia

['Rod-cone dystrophy', 'Ophthalmoplegia', 'Abnormality of visual evoked potentials', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Death in infancy', 'Cerebellar agenesis']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']

原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary

['Cardiomyopathy', 'Fever', 'Abnormality of urine homeostasis', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine']

Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to

['Abnormal saccadic eye movements', 'Lethargy', 'Spasticity', 'Death in infancy', 'Bradycardia', 'Hyperammonemia', 'Vomiting', 'Apnea', 'Drowsiness', 'Sleep disturbance', 'Hyperglutaminemia', 'Oroticaciduria', 'Low plasma citrulline', 'Neonatal death']

Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

['Death in infancy', 'Metabolic acidosis', 'Decreased methylmalonyl-CoA mutase activity']

Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome

['Hypospadias', 'Microcephaly', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia']

3-Methylcrotonyl-CoA carboxylase 1 deficiency

['Hyperhidrosis', 'Death in infancy', 'Cardiomyopathy', 'Cardiomegaly', 'Hypotension', 'Tachypnea', 'Aminoaciduria', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']

生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset

['Eczematoid dermatitis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Generalized hypotonia', 'Death in infancy', 'Increased serum lactate', 'Neonatal death', 'Death in childhood']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Hypercholesterolemia', 'Hypertyrosinemia', 'Aminoaciduria', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood']

PMM2-CDG/Congenital disorder of glycosylation, type Ia

['Nephritis', 'Syncope', 'Death in infancy', 'Premature birth', 'Vomiting', 'Diarrhea', 'Elevated hepatic transaminase', 'Neonatal death', 'Death in childhood']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']

Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

['Hypertension', 'Secondary hyperparathyroidism', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Cardiomyopathy', 'Anemia', 'Acute kidney injury', 'Hyperammonemia', 'Vomiting', 'Hyperuricemia', 'Hyperglycinemia', 'Tachypnea', 'Methylmalonic acidemia', 'Increased blood urea nitrogen', 'Decreased methylmalonyl-CoA mutase activity', 'Elevated circulating creatinine concentration', 'Hyperalaninemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Decreased plasma free carnitine', 'Abnormal circulating porphyrin concentration', 'Death in adolescence', 'Feeding difficulties', 'Methylmalonic aciduria', 'Chronic kidney disease']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Seizure', 'Lethargy', 'Areflexia', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Fever', 'Dyspnea', 'Hyperglycinemia', 'Opisthotonus', 'Drowsiness', 'Sleep disturbance', 'Fasciculations', 'Glutaric aciduria', 'Hyperglutaminemia', 'Elevated circulating glutaric acid concentration', 'Abnormal circulating carnitine concentration', 'Feeding difficulties']

Citrullinemia type I/Citrullinemia, classic

['Lethargy', 'Death in infancy', 'Fever', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Neonatal death', 'Recurrent viral infections', 'Elevated plasma citrulline']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']

生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset

['Macrocephaly', 'Hypohidrosis', 'Eczematoid dermatitis', 'Skin rash', 'Generalized hypotonia', 'Death in infancy', 'Alopecia', 'Metabolic acidosis', 'Neonatal death', 'Arrhythmia', 'Elevated urinary carboxylic acid']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Eczematoid dermatitis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']

Acute intermittent porphyria/Porphyria, acute intermittent

['Vomiting', 'Abdominal pain', 'Death in childhood']

全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency

['Apathy', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Increased serum lactate', 'Tachypnea', 'Decreased pyruvate carboxylase activity', 'Propionyl-CoA carboxylase deficiency', 'Aminoaciduria', 'Decreased plasma free carnitine', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']

3-Methylcrotonyl-CoA carboxylase 1 deficiency

['Death in infancy', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid']

异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia

['Intellectual disability', 'Obesity', 'Hyperalaninemia', 'Abnormal circulating glycine concentration', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Abnormal circulating carnitine concentration', 'Death in adolescence']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Increased total bilirubin', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']

PMM2-CDG/Congenital disorder of glycosylation, type Ia

['Intellectual disability', 'Motor delay', 'Cerebellar atrophy', 'Death in infancy', 'Hypoproteinemia', 'Hypocholesterolemia', 'Lipodystrophy', 'Cerebellar agenesis', 'Acute hepatitis', 'Chronic hepatitis']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Ataxia', 'Spasticity', 'Death in infancy', 'Fever', 'Glutaric aciduria']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Seborrheic dermatitis', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Nystagmus', 'Ataxia', 'Reduced tendon reflexes', 'Increased serum lactate', 'Increased CSF lactate', 'Glutaric aciduria', 'Increased serum pyruvate', 'Decreased plasma free carnitine', 'Abnormal immunoglobulin level', 'Hyperalbuminemia', 'Occipital neuralgia', 'Death in early adulthood']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Decreased circulating ferritin concentration']

Carnitine-acylcarnitine translocase deficiency/Carnitine-acylcarnitine translocase deficiency

['Apathy', 'Cyanosis', 'Generalized hypotonia', 'Death in infancy', 'Bradycardia', 'Hypoglycemia', 'Hyperammonemia', 'Dicarboxylic aciduria', 'Neonatal death']

生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset

['Lethargy', 'Spasticity', 'Generalized hypotonia', 'Death in infancy', 'Anemia', 'Organic aciduria', 'Drowsiness', 'Sleep disturbance']

PMM2-CDG/Congenital disorder of glycosylation, type Ia

['Congenital diaphragmatic hernia', 'Intellectual disability', 'Motor delay', 'Failure to thrive', 'Death in infancy', 'Hiatus hernia', 'Cerebral atrophy', 'Lipodystrophy', 'Abnormal muscle physiology']

Argininosuccinic aciduria/Argininosuccinic aciduria

['Seizure', 'Coma', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Increased serum lactate', 'Hepatomegaly', 'Tachypnea', 'Neonatal death', 'Feeding difficulties', 'Functional abnormality of the gastrointestinal tract', 'Metabolic alkalosis']

Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

['Cataract', 'Hip dysplasia', 'Small for gestational age', 'Death in infancy', 'Premature birth', 'Anemia', 'Hyperammonemia', 'Elevated circulating creatinine concentration', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Methylmalonic aciduria', 'Death in early adulthood']

Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency

['Delayed speech and language development', 'Hyperactivity', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Difficulty walking', 'Difficulty climbing stairs', 'Death in childhood', 'Difficulty running', 'Elevated urinary carboxylic acid']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid', 'Death in early adulthood']

Krabbe disease

['Petechiae', 'Intellectual disability', 'Spastic diplegia', 'Motor delay', 'Areflexia', 'Generalized hypotonia', 'Failure to thrive', 'Death in infancy', 'Vomiting', 'Diarrhea', 'Opisthotonus', 'Abnormal cerebral white matter morphology', 'Spastic tetraplegia', 'Increased CSF protein concentration', 'Neonatal death', 'Death in childhood', 'Decreased beta-galactosidase activity', 'Peripheral demyelination', 'Feeding difficulties', 'Dyskinesia']

鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to

['Atypical behavior', 'Hyperactivity', 'Intellectual disability', 'Coma', 'Motor delay', 'Hepatic failure', 'Weight loss', 'Fever', 'Hyperammonemia', 'Vomiting', 'Cerebral cortical atrophy', 'Difficulty walking', 'Hyperglutaminemia', 'Oroticaciduria', 'Difficulty climbing stairs', 'Death in childhood', 'Difficulty running', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Death in adolescence']

中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of

['Coma', 'Hepatic steatosis', 'Death in infancy', 'Vomiting', 'Cerebral edema', 'Abnormal circulating acetylcarnitine concentration']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Hypospadias', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Esophageal atresia', 'Upper airway obstruction', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Chronic pulmonary obstruction', 'Death in adolescence', 'Death in early adulthood']

中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of

['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Microcephaly', 'Self-mutilation', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Death in infancy', 'Hypertyrosinemia', 'Severe short stature', 'Hyperphenylalaninemia', 'Death in adolescence']

Mitochondrial complex IV deficiency, nuclear type 1

['Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Respiratory insufficiency', 'Increased serum lactate', 'Drowsiness', 'Sleep disturbance', 'Dicarboxylic aciduria', 'Cytochrome C oxidase-negative muscle fibers', 'Neonatal death', 'Elevated urinary carboxylic acid']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']

Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset

['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Elevated plasma citrulline']

酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I

['Polyuria', 'Hyperactivity', 'Abnormality of prenatal development or birth', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Tachycardia', 'Hypoglycemia', 'Hypophosphatemia', 'Hyperglycinemia', 'Hypokalemia', 'Hyponatremia', 'Hypomagnesemia', 'Hypochloremia', 'Elevated circulating alkaline phosphatase concentration', '4-Hydroxyphenylpyruvic aciduria', 'Hyperglutaminemia', 'Hypertyrosinemia', 'Hypermethioninemia', 'Paresthesia', 'Elevated calcitonin', '4-hydroxyphenylacetic aciduria', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration', 'Paraplegia/paraparesis', 'Death in adolescence']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Delayed speech and language development', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia', 'Abnormal circulating porphyrin concentration', 'Death in adolescence']

L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria

['Macrocephaly', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Obesity', 'Large for gestational age', 'Death in infancy', 'Abnormal cerebral morphology', 'Neonatal death', 'Death in childhood', 'Abnormal circulating lysine concentration', 'L-2-hydroxyglutaric aciduria']

Citrullinemia type I/Citrullinemia, classic

['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Motor delay', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Death in adolescence', 'Elevated plasma citrulline']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Delayed speech and language development', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Hypertyrosinemia', 'Severe short stature', 'Death in childhood', 'Hyperphenylalaninemia']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']

生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset

['Seborrheic dermatitis', 'Death in infancy', 'Increased serum lactate', 'Fair hair', 'Brittle hair', 'Hyperalaninemia', 'Neonatal death', 'Death in childhood', 'White hair', 'Death in adolescence']

Carnitine palmitoyl transferase 1A deficiency/Carnitine palmitoyltransferase I deficiency

['Hypertelorism', 'Low-set ears', 'Wide nasal bridge', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Excessive salivation', 'Neonatal death', 'Abnormal circulating acetylcarnitine concentration', 'Severe hearing impairment', 'Abnormal circulating creatine kinase concentration']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']

鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to

['Seizure', 'Spasticity', 'Death in infancy', 'Hyperammonemia', 'Increased serum lactate', 'Tachypnea', 'Oroticaciduria', 'Neonatal death', 'Elevated circulating acylcarnitine concentration']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Generalized hypotonia', 'Death in infancy', 'Athetosis', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Recurrent viral infections', 'Feeding difficulties']

鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to

['Death in infancy', 'Hyperammonemia', 'Oroticaciduria', 'Short stature']

极长链酰基辅酶 A 脱氢酶缺乏症/Very long chain acyl-CoA dehydrogenasedeficiency; VLCADD/Very long chain acyl-CoA dehydrogenase deficiency/Very long-chain acyl-CoA dehydrogenase deficiency

['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Abnormal circulating carnitine concentration']

Citrullinemia type I/Citrullinemia, classic

['Hyperactivity', 'Lethargy', 'Coma', 'Encephalopathy', 'Abnormal cerebellum morphology', 'Dystonia', 'Tachycardia', 'Acute kidney injury', 'Fever', 'Leukocytosis', 'Hyperammonemia', 'Abnormal cerebral morphology', 'Abnormality of extrapyramidal motor function', 'Hyperkalemia', 'Drowsiness', 'Sleep disturbance', 'Elevated hepatic transaminase', 'Hypernatremia', 'Death in childhood', 'Fatigue', 'Chronic kidney disease', 'Dyskinesia']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Fever', 'Diarrhea', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Abnormal circulating aspartate family amino acid concentration', 'Elevated urinary carboxylic acid']

Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome

['Low-set ears', 'Anteverted nares', 'Ptosis', 'Delayed speech and language development', 'Hyperactivity', 'Syndactyly', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'High, narrow palate', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Polydactyly', 'Elevated 7-dehydrocholesterol']

Argininosuccinic aciduria/Argininosuccinic aciduria

['Macrocephaly', 'Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Death in infancy', 'Hyperammonemia', 'Opisthotonus', 'Hepatomegaly', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Abnormal circulating proline concentration', 'Abnormal circulating arginine concentration', 'Elevated plasma citrulline', 'Uraciluria']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Obesity', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in early adulthood']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Abnormal circulating porphyrin concentration', 'Death in adolescence', 'Decreased circulating ferritin concentration', 'Elevated urinary carboxylic acid']

Classic galactosemia/GALACTOSEMIA

['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Spasticity', 'Death in infancy', 'Hyperammonemia', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Feeding difficulties', 'Hypergalactosemia']

原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary

['Death in infancy', 'Premature birth', 'Hyperammonemia', 'Hepatomegaly', 'Increased total bilirubin', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating creatine kinase concentration', 'Preeclampsia']

中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of

['Death in infancy', 'Premature birth', 'Hypertriglyceridemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration']

Citrullinemia type I/Citrullinemia, classic

['Coma', 'Hyporeflexia', 'Generalized hypotonia', 'Death in infancy', 'Tachycardia', 'Metabolic acidosis', 'Hyperammonemia', 'Respiratory distress', 'Cerebral edema', 'Fasciculations', 'Increased total bilirubin', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating glutamine concentration', 'Abnormal circulating citrulline concentration']

Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency

['Delayed speech and language development', 'Hyperactivity', 'Intellectual disability', 'Death in childhood', 'Death in adolescence', 'Elevated urinary carboxylic acid']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Polycystic ovaries', 'Eczematoid dermatitis', 'Skin rash', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Hypertyrosinemia', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood', 'Pustule']

Acute intermittent porphyria/Porphyria, acute intermittent

['Obesity', 'Abdominal pain', 'Death in childhood']

Isolated glycerol kinase deficiency/Glycerol kinase deficiency

['Cerebellar atrophy', 'Generalized hypotonia', 'Tachycardia', 'Cardiac arrest', 'Skeletal muscle atrophy', 'Death in childhood', 'Recurrent viral infections', 'Aplasia/Hypoplasia involving the musculature of the extremities', 'Cerebellar agenesis', 'Increased urinary glycerol']

苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria

['Acne', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence']

中链酰基辅酶 A 脱氢酶缺乏症/Medium chain acyl-CoA dehydrogenase deficiency; MCADD/Medium chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, medium-chain, deficiency of

['Coma', 'Death in infancy', 'Premature birth', 'Metabolic acidosis', 'Hypoglycemia', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Death in adolescence', 'Hypoxemia']

丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia

['Hyperammonemia', 'Hyperglycinemia', 'Hyperalaninemia', 'Decreased plasma free carnitine']

21-羟化酶缺乏症/21-hydroxylase deficiency; 21-OHD/Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency/Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

['Cryptorchidism', 'Self-mutilation', 'Delayed speech and language development', 'Cyanosis', 'Abnormality of skin pigmentation', 'Abnormality of prenatal development or birth', 'Seizure', 'Death in infancy', 'Dehydration', 'Fever', 'Hyperkalemia', 'Hypokalemia', 'Hyponatremia', 'Neonatal death', 'Death in childhood', 'Pigmentation of the sclera', 'Severe hearing impairment', 'Elevated circulating 17-hydroxyprogesterone concentration']

Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

['Seizure', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Neonatal death', 'Methylmalonic aciduria']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Macrocephaly', 'Hyperhidrosis', 'Lethargy', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Dyspnea', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria', 'Dyskinesia']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Hydrocephalus', 'High forehead', 'Spasticity', 'Generalized hypotonia', 'Death in infancy', 'Cerebral atrophy', 'Athetosis', 'Glutaric aciduria', 'Death in childhood']

Citrullinemia type I/Citrullinemia, classic

['Hyperactivity', 'Hypertrichosis', 'Intellectual disability', 'Spasticity', 'Coma', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Hyperammonemia', 'Pneumonia', 'Oroticaciduria', 'Ornithinuria', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating glutamine concentration', 'Abnormal circulating arginine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Feeding difficulties', 'Hyperornithinemia', 'Uraciluria', 'Hypoammonemia', 'Death in early adulthood', 'Acute hepatitis', 'Chronic hepatitis']

鸟氨酸氨甲酰胺基转移酶缺乏症/Ornithine transcarbamylase deficiency; OTCD/Ornithine transcarbamylase deficiency/Ornithine transcarbamylase deficiency, hyperammonemia due to

['Vomiting', 'Migraine', 'Hyperglutaminemia', 'Oroticaciduria', 'Hyperalaninemia', 'Low plasma citrulline', 'Death in childhood', 'Death in adolescence', 'Uraciluria', 'Decreased circulating ferritin concentration', 'Abnormal vitamin B12 level']

戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I

['Macrocephaly', 'Cystic hygroma', 'Death in infancy', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration']