rare_bench.csv

RareDisease,Phenotype
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Death in infancy', 'Metabolic acidosis', 'Decreased methylmalonyl-CoA mutase activity', 'Death in childhood']"
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency,"['Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Pneumonia', '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']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Congenital diaphragmatic hernia', 'Motor delay', 'Cerebellar atrophy', 'Failure to thrive', 'Death in infancy', 'Hiatus hernia', 'Lipodystrophy', 'Abnormal muscle physiology', 'Cerebellar agenesis']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Hydronephrosis', 'Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Fever', 'Opisthotonus', 'Athetosis', 'Kyphoscoliosis', 'Neonatal death', 'Death in childhood', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Death in adolescence', 'Feeding difficulties', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Skin rash', 'Abnormality of prenatal development or birth', 'Obesity', 'Death in infancy', 'Diarrhea', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule', 'Hernia']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Eczematoid dermatitis', 'Skin rash', 'Death in infancy', 'Alopecia', 'Increased serum lactate', 'Increased CSF lactate']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Rod-cone dystrophy', 'Intellectual disability', 'Cerebellar atrophy', 'Death in infancy', 'Thromboembolism', 'Abnormal facial shape', 'Abnormal calvaria morphology', '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,"['Macrocephaly', 'Cystic hygroma', 'Lethargy', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Dyspnea', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria', 'Neonatal death', 'Decreased plasma free carnitine', 'Dyskinesia']"
异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia,"['Abnormality of prenatal development or birth', 'Lethargy', 'Death in infancy', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Feeding difficulties']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Microcephaly', 'Strabismus', 'Nystagmus', 'Intellectual disability', 'Ataxia', 'Hyporeflexia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Encephalopathy', 'Growth delay', 'Death in infancy', 'Cerebellar agenesis']"
"Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type","['Strabismus', 'Nystagmus', 'Optic atrophy', 'Abnormality of prenatal development or birth', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Ventricular septal defect', 'Hyperammonemia', 'Hyperhomocystinemia', 'Hyperalaninemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Methylmalonic aciduria', 'Elevated urinary carboxylic acid']"
"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', 'Hypoglycemia', 'Vomiting', 'Diarrhea', 'Elevated hepatic transaminase', 'Abnormal circulating carnitine concentration']"
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency,"['Coma', 'Death in infancy', 'Hyperkalemia', 'Hyponatremia', 'Neonatal death', 'Respiratory acidosis', 'Elevated urinary carboxylic acid']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Ptosis', 'Ectopia lentis', 'Large hands', 'Intellectual disability', 'Motor delay', 'Long foot', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Death in childhood', 'Death in adolescence', 'Fatigue']"
"Hyperinsulinemic hypoglycemia, familial, 2","['Wide mouth', 'Epicanthus', 'Carious teeth', 'Hyperinsulinemia', 'Sparse hair', 'Seizure', 'Death in infancy', 'Hypoglycemia', 'Neonatal death', 'Death in childhood', 'Abnormal hemoglobin', 'Feeding difficulties']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Abnormality of prenatal development or birth', 'Intellectual disability', 'Seizure', 'Motor delay', 'Death in infancy', 'Anemia', 'Hyperammonemia', 'Hyperglycinemia', 'Hepatomegaly', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Hypoglycinemia']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Generalized hypotonia', 'Death in infancy', 'Thrombocytopenia', 'Leukopenia', 'Metabolic acidosis', 'Apnea', 'Decreased methylmalonyl-CoA mutase activity', 'Neonatal death', 'Feeding difficulties', 'Methylmalonic aciduria', 'Abnormal nervous system physiology']"
"原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary","['Coma', 'Death in infancy', 'Sudden death', 'Hypoglycemia', 'Vomiting', 'Elevated circulating alkaline phosphatase concentration', 'Decreased plasma free carnitine', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Increased circulating lactate dehydrogenase concentration']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Lethargy', 'Death in infancy', 'Clumsiness', 'Drowsiness', 'Sleep disturbance', 'Poor coordination', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Feeding difficulties']"
"Mitochondrial complex IV deficiency, nuclear type 1","['Delayed speech and language development', 'Hypothyroidism', 'Dysarthria', 'Spastic diplegia', 'Encephalopathy', 'Hyperreflexia', 'Spastic tetraplegia', 'Ethylmalonic aciduria', 'Cytochrome C oxidase-negative muscle fibers', 'Recurrent viral infections', 'Abnormal circulating glycine concentration', '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', 'Abnormal circulating carnitine concentration']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Cystic hygroma', 'Hyperhidrosis', 'Lethargy', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Metabolic acidosis', 'Fever', 'Vomiting', 'Diarrhea', 'Dyspnea', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Dyskinesia']"
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']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Delayed speech and language development', 'Intellectual disability', 'Hyperreflexia', 'Death in infancy', 'Difficulty walking', 'Abnormal cerebral white matter morphology', 'Difficulty climbing stairs', 'Death in childhood', 'Difficulty running']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Apathy', 'Spasticity', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Hypoglycemia', 'Neonatal death', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Death in early adulthood']"
Classic galactosemia/GALACTOSEMIA,"['Delayed speech and language development', 'Obesity', 'Death in infancy', 'Hyperalaninemia', 'Aminoaciduria', 'Increased total bilirubin', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating tyrosine concentration', 'Death in adolescence', 'Hypergalactosemia']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Death in infancy', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Vomiting', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Jaundice', 'Generalized hypotonia', 'Anemia', 'Hyperhomocystinemia', 'Progressive neurologic deterioration', 'Hypomethioninemia', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating porphyrin concentration', 'Abnormality of folate metabolism']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Upper airway obstruction', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Chronic pulmonary obstruction', 'Death in adolescence', 'Death in early adulthood']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Apathy', 'Seizure', 'Spasticity', 'Death in infancy', 'Alopecia', 'Dyspnea', 'Fatigue', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Obesity', 'Death in infancy', 'Fever', 'Vomiting', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Hyperphenylalaninemia', 'Death in adolescence']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Skin rash', 'Death in infancy', 'Alopecia', 'Metabolic acidosis', 'Increased CSF lactate', 'Aminoaciduria', 'Abnormal circulating glycine concentration', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule', 'Elevated urinary carboxylic acid']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Death in infancy', 'Dehydration', 'Decreased methylmalonyl-CoA mutase activity', 'Neonatal death', 'Feeding difficulties']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Fever', 'Increased serum lactate', 'Drowsiness', 'Sleep disturbance', 'Decreased pyruvate carboxylase activity', 'Propionyl-CoA carboxylase deficiency', 'Aminoaciduria', 'Stomatitis', 'Stridor', 'Abnormal circulating glycine concentration', 'Fatigue', 'Elevated urinary carboxylic acid', 'Gangrene']"
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']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Death in infancy', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Elevated urinary carboxylic acid']"
肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease,"['Carious teeth', 'Obesity', 'Elevated hepatic transaminase', 'Death in childhood', 'Abnormal circulating porphyrin concentration', 'Decreased circulating ceruloplasmin concentration', 'Increased urinary copper concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Decreased circulating copper concentration', 'Decreased serum iron']"
"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', 'Abnormal circulating carnitine concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Aminoaciduria', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Generalized hypotonia', 'Death in infancy', 'Hepatomegaly', 'Tachypnea', '3-Methylglutaconic aciduria', 'Neonatal death', 'Feeding difficulties']"
"Citrullinemia type I/Citrullinemia, classic","['Delayed speech and language development', 'Hyperhidrosis', 'Abnormality of prenatal development or birth', 'Lethargy', 'Motor delay', 'Obesity', 'Death in infancy', 'Hypoglycemia', 'Respiratory alkalosis', 'Hyperammonemia', 'Hypothermia', 'Drowsiness', 'Sleep disturbance', 'Tachypnea', 'Oroticaciduria', 'Neonatal death', 'Death in childhood', 'Elevated plasma citrulline', 'Pustule', 'Acute hepatitis', 'Chronic hepatitis']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Abnormality of visual evoked potentials', 'Irritability', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Athetosis', 'Glutaric aciduria', 'Neonatal death']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Delayed speech and language development', '4-Hydroxyphenylpyruvic aciduria', 'Elevated urinary delta-aminolevulinic acid', 'Hypertyrosinemia', 'Death in childhood', 'Abnormal circulating phenylalanine concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Obesity', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hyperactivity', 'Intellectual disability', 'Seizure', 'Obesity', 'Hypertyrosinemia', 'Severe short stature', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid', 'Death in early adulthood']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Seizure', 'Generalized hypotonia', 'Death in infancy', 'Thrombocytopenia', 'Leukopenia', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Methylmalonic acidemia', 'Neonatal death', 'Methylmalonic aciduria']"
"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', 'Abnormal circulating carnitine concentration']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Methylmalonic aciduria']"
"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', 'Death in infancy', 'Hyperammonemia', 'Cerebral edema', 'Oroticaciduria', 'Neonatal death']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Seizure', 'Generalized hypotonia', 'Growth delay', 'Death in infancy', 'Alopecia', 'Fasciculations', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Obesity', 'Hypercholesterolemia', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypospadias', 'Death in infancy', 'Premature birth', 'Hypertyrosinemia', 'Severe short stature', 'Neonatal death', 'Hyperphenylalaninemia', 'Hernia']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Microcephaly', 'Low-set ears', 'Wide nasal bridge', 'Strabismus', 'Delayed speech and language development', 'Syndactyly', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Difficulty walking', 'Elevated 8-dehydrocholesterol', 'Severe short stature', 'Difficulty climbing stairs', 'Neonatal death', 'Death in childhood', 'Difficulty running', 'Elevated 7-dehydrocholesterol', 'Severe hearing impairment']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Ataxia', 'Death in infancy', 'Dehydration', 'Fever', 'Diarrhea', 'Opisthotonus', 'Athetosis', 'Progressive neurologic deterioration', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormal circulating acetylcarnitine concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Motor delay', 'Generalized hypotonia', 'Hip dysplasia', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Retrognathia', 'Abnormality of prenatal development or birth', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Apnea', 'Opisthotonus', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Autistic behavior', 'Self-mutilation', 'Hyperactivity', 'Intellectual disability', 'Seizure', 'Motor delay', 'Obesity', 'Death in infancy', 'Elevated circulating alkaline phosphatase concentration', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Decreased serum iron']"
Classic galactosemia/GALACTOSEMIA,"['Death in infancy', 'Vomiting', 'Increased total bilirubin', 'Neonatal death', 'Hypergalactosemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia', 'Abnormal circulating tyrosine concentration']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Obesity', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Death in adolescence']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Intellectual disability', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Cryptorchidism', 'Hypospadias', 'Microcephaly', 'Low-set ears', 'Strabismus', 'Ptosis', 'Hypermetropia', 'Eczematoid dermatitis', 'Skin rash', 'Syndactyly', 'Intellectual disability', 'Lethargy', 'Motor delay', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Vomiting', 'Constipation', 'Drowsiness', 'Sleep disturbance', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties', 'Hypoxemia', 'Severe hearing impairment']"
Canavan disease/Canavan disease,"['Strabismus', 'Hyporeflexia', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Fever', 'Cerebral atrophy', 'Abnormal circulating aspartate family amino acid concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Obesity', 'Death in infancy', 'Coarctation of aorta', 'Fever', 'Pneumonia', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Aminoaciduria', 'Neonatal death', 'Death in childhood']"
Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency,"['Ataxia', 'Generalized hypotonia', 'Death in childhood', 'Abnormal circulating pyrimidine concentration', 'Uraciluria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']"
Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency,"['Death in infancy', 'Respiratory insufficiency', 'Neonatal death', 'Abnormal circulating pyrimidine concentration', 'Uraciluria']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Pallor', 'Death in infancy', 'Ascites', 'Thrombocytosis', 'Anemia', 'Hypoalbuminemia', 'Hypoproteinemia', 'Elevated circulating alkaline phosphatase concentration', 'Hypertyrosinemia', 'Aminoaciduria', 'Elevated circulating alpha-fetoprotein concentration', 'Abnormal circulating porphyrin concentration', 'Hernia']"
Canavan disease/Canavan disease,"['Seizure', 'Motor delay', 'Death in infancy', 'Abnormal circulating aspartate family amino acid concentration']"
异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia,"['Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Abdominal pain', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Body odor']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertension', 'Intellectual disability', 'Obesity', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid', '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', 'Small for gestational age', 'Death in infancy', 'Hyperalaninemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Severe hearing impairment']"
"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","['Lethargy', 'Death in infancy', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Abnormal circulating ornithine concentration']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Ataxia', 'Dystonia', 'Abnormal cerebral morphology', 'Glutaric aciduria', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormal myelination']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
"原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary","['Irritability', 'Coma', 'Generalized hypotonia', 'Encephalopathy', 'Cardiomyopathy', 'Anemia', 'Hypoglycemia', 'Vomiting', 'Hepatomegaly', 'Elevated hepatic transaminase', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Strabismus', 'Nystagmus', 'Ataxia', 'Hyporeflexia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Encephalopathy', 'Growth delay', 'Death in infancy', 'Cerebellar agenesis']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Myopia', 'Delayed speech and language development', 'Ectopia lentis', 'Intellectual disability', 'Death in infancy', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Aminoaciduria', 'Death in childhood', 'Abnormal circulating alanine concentration', '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","['Seizure', 'Ataxia', 'Lethargy', 'Hyperreflexia', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Diarrhea', 'Drowsiness', 'Sleep disturbance', 'Fasciculations', 'Oroticaciduria', 'Death in childhood', 'Death in adolescence']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Microcephaly', 'Pointed chin', 'Short chin', 'Strabismus', 'Ptosis', 'Hyperactivity', 'Syndactyly', 'Intellectual disability', 'Ataxia', 'Generalized hypotonia', 'Hyperreflexia', 'Failure to thrive', 'Death in infancy', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Death in childhood', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties', 'Fatigue']"
Glycogen storage disease due to glycogen debranching enzyme deficiency/Glycogen storage disease III,"['Generalized hypotonia', 'Death in infancy', 'Increased serum lactate', 'Hypertriglyceridemia', 'Hepatomegaly', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Increased circulating lactate dehydrogenase concentration', 'Abnormal circulating creatine kinase concentration']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Microcephaly', 'Generalized hypotonia', 'Death in infancy', 'Cerebral cortical atrophy', 'Athetosis', 'Glutaric aciduria', 'Neonatal death', 'Decreased plasma free carnitine', 'Death in adolescence', 'Abnormal circulating acetylcarnitine concentration']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Death in infancy', 'Hyperammonemia', 'Vomiting', 'Hyperglycinemia', 'Hyperglycinuria', 'Hyperalaninemia', 'Death in childhood', 'Ichthyosis', 'Abnormal circulating glutamine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid']"
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency,"['Intellectual disability', 'Motor delay', 'Abnormal facial shape', 'Abnormal calvaria morphology', 'Death in childhood', 'Abnormal circulating monocarboxylic acid concentration', 'Elevated urinary carboxylic acid']"
Classic galactosemia/GALACTOSEMIA,"['Delayed speech and language development', 'Intellectual disability', 'Motor delay', 'Hepatic failure', 'Death in infancy', 'Premature birth', 'Diarrhea', 'Increased total bilirubin', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Hypergalactosemia']"
"Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset","['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperammonemia', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Abnormal circulating proline concentration', 'Elevated plasma citrulline']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Fever', 'Hypertyrosinemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Abnormal circulating porphyrin concentration', 'Death in adolescence', 'Decreased circulating ferritin concentration', 'Elevated urinary carboxylic acid']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Lethargy', 'Generalized hypotonia', 'Tremor', 'Death in infancy', 'Opisthotonus', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Abnormal circulating leucine concentration', 'Elevated urinary carboxylic acid', 'Body odor']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Generalized hypotonia', 'Death in infancy', 'Premature birth', 'Anemia', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Decreased circulating ferritin concentration', 'Pregnancy exposure', 'Decreased serum iron', 'Abnormality of vitamin D metabolism']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Hypertelorism', 'Anteverted nares', 'Self-mutilation', 'Delayed speech and language development', 'Hyperactivity', 'Syndactyly', 'Intellectual disability', 'Seizure', 'Motor delay', 'Death in infancy', 'Abnormal foot morphology', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Elevated 7-dehydrocholesterol', 'Severe hearing impairment']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Microcephaly', 'Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Failure to thrive', 'Small for gestational age', 'Death in infancy', 'Splenomegaly', 'Anemia', 'Acute kidney injury', 'Metabolic acidosis', 'Hypoglycemia', 'Dehydration', 'Fever', 'Hyperammonemia', 'Hypothermia', 'Pneumonia', 'Hyperuricemia', 'Increased serum lactate', 'Hyperglycinemia', 'Hepatomegaly', 'Methylmalonic acidemia', 'Hyperglycinuria', 'Increased blood urea nitrogen', 'Elevated circulating alkaline phosphatase concentration', 'Decreased methylmalonyl-CoA mutase activity', 'Elevated circulating creatinine concentration', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating homocysteine concentration', 'Elevated circulating C-reactive protein concentration', 'Feeding difficulties', 'Methylmalonic aciduria', 'Chronic kidney disease', 'Elevated urinary carboxylic acid']"
Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency,"['Ataxia', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Drowsiness', 'Sleep disturbance', 'Abnormal circulating pyrimidine concentration', 'Uraciluria']"
异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Seizure', 'Generalized hypotonia', 'Death in infancy', 'Elevated urinary carboxylic acid']"
"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","['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Seizure', 'Spastic diplegia', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Dyspnea', 'Apnea', 'Opisthotonus', 'Spastic tetraplegia', 'Neonatal death', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Feeding difficulties', 'Body odor']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Psychosis', 'Osteoporosis', 'Intellectual disability', 'Anemia', 'Hyperammonemia', 'Cerebral atrophy', 'Hyperglycinemia', 'Kyphoscoliosis', 'Increased blood urea nitrogen', 'Elevated circulating creatinine concentration', 'Hyperalaninemia', 'Severe short stature', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Severe hearing impairment', 'Elevated urinary carboxylic acid', 'Death in early adulthood', 'Body odor']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Intellectual disability', 'Seizure', 'Ataxia', 'Tremor', 'Death in childhood', 'L-2-hydroxyglutaric aciduria']"
Canavan disease/Canavan disease,"['Motor delay', 'Death in infancy', 'Abnormal circulating aspartate family amino acid concentration']"
"Citrullinemia type I/Citrullinemia, classic","['Death in infancy', 'Hyperammonemia', 'Increased total bilirubin', 'Neonatal death', 'Elevated plasma citrulline']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Lethargy', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Hyperammonemia', 'Vomiting', 'Diarrhea', 'Hepatomegaly', 'Drowsiness', 'Sleep disturbance', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Death in childhood', 'Recurrent viral infections', 'Elevated urinary carboxylic acid']"
Cystinuria/Cystinuria,"['Seizure', 'Death in infancy', 'Splenomegaly', 'Respiratory insufficiency']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Hypoproteinemia', 'Increased blood urea nitrogen', 'Hyperthreoninemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hypervalinemia', 'Abnormal circulating isoleucine concentration', 'Abnormal circulating carnitine concentration', 'Feeding difficulties', 'Decreased serum creatinine', 'Methylmalonic aciduria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Strabismus', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Obesity', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood']"
"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', 'Abnormal bleeding', 'Hyperammonemia', 'Vomiting', 'Oroticaciduria', 'Abnormality of the coagulation cascade']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Intellectual disability', 'Generalized hypotonia', 'Hyperreflexia', 'Hyperammonemia', 'Abnormal cerebral morphology', 'Death in childhood', 'Abnormal myelination', 'L-2-hydroxyglutaric acidemia']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Intellectual disability', 'Ataxia', 'Cerebellar atrophy', 'Death in infancy', 'Thromboembolism', 'Stroke-like episode', 'Cerebellar agenesis']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Premature birth', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Lethargy', 'Motor delay', 'Generalized hypotonia', 'Tremor', 'Death in infancy', 'Leukopenia', 'Fever', 'Hyperammonemia', 'Vomiting', 'Gastroesophageal reflux', 'Pneumonia', 'Increased serum lactate', 'Hyperglycinemia', 'Drowsiness', 'Difficulty walking', 'Sleep disturbance', 'Tachypnea', 'Increased blood urea nitrogen', 'Hypertyrosinemia', 'Hyperalaninemia', 'Difficulty climbing stairs', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperprolinemia', 'Difficulty running', 'Stomatitis', 'Hypervalinemia', 'Abnormal circulating carnitine concentration', 'Hypoglycinemia', 'Severe hearing impairment']"
肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease,"['Polydipsia', 'Elevated hepatic transaminase', 'Decreased circulating ceruloplasmin concentration', 'Death in adolescence', 'Decreased circulating copper concentration']"
"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', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Vomiting', 'Drowsiness', 'Sleep disturbance', 'Hyperglutaminemia', 'Oroticaciduria', 'Neonatal death']"
Classic galactosemia/GALACTOSEMIA,"['Microcephaly', 'Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Anemia', 'Elevated circulating alkaline phosphatase concentration', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating porphyrin concentration', 'Feeding difficulties', 'Hypergalactosemia', 'Decreased circulating ferritin concentration', 'Decreased serum iron']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Obesity', 'Abnormal foot morphology', 'Hyperammonemia', 'Death in childhood']"
Canavan disease/Canavan disease,"['Hyperactivity', 'Death in infancy', 'Abnormal circulating aspartate family amino acid concentration', 'Feeding difficulties', 'Abnormal myelination']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
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', 'Death in early adulthood']"
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency/Glycogen storage disease type IXb,"['Nephritis', 'Generalized hypotonia', 'Death in infancy', 'Ventricular septal defect', 'Cardiomyopathy', 'Pulmonic stenosis']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Irritability', 'Spasticity', 'Hyperreflexia', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', '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","['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Abnormal circulating carnitine concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Generalized hypotonia', '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,"['Seizure', 'Encephalopathy', 'Death in infancy', 'Opisthotonus', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Death in childhood', 'Decreased plasma free carnitine', 'Elevated urinary carboxylic acid']"
Glutathione synthetase deficiency,"['Strabismus', 'Nystagmus', 'Hyperactivity', 'Cyanosis', 'Edema', 'Intellectual disability', 'Seizure', 'Spastic diplegia', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Diarrhea', 'Pneumonia', 'Dyspnea', 'Hyperkalemia', 'Opisthotonus', 'Hepatomegaly', 'Fair hair', 'Spastic tetraplegia', 'Hypocalcemia', 'Neonatal death', 'Stridor', 'White hair', 'Severe hearing impairment']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Strabismus', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Cirrhosis', 'Hepatic fibrosis', 'Death in infancy', 'Thromboembolism', 'Reduced antithrombin III activity', 'Death in childhood', 'Lipodystrophy', 'Death in adolescence', 'Cerebellar agenesis']"
Canavan disease/Canavan disease,"['Irritability', 'Seizure', 'Generalized hypotonia', 'Hyperreflexia', 'Death in infancy', 'Opisthotonus', 'Abnormal circulating aspartate family amino acid concentration', 'Feeding difficulties']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Gastrointestinal inflammation', 'Hyperphenylalaninemia']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Ataxia', 'Coma', 'Reduced tendon reflexes', 'Alopecia', 'Metabolic acidosis', 'Cerebral edema', 'Abnormal cerebral white matter morphology', 'Death in childhood', 'Recurrent viral infections', 'Hyperleucinemia', 'Death in adolescence']"
"Acute intermittent porphyria/Porphyria, acute intermittent","['Abdominal pain', 'Elevated urinary delta-aminolevulinic acid', 'Death in childhood']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Seizure', 'Death in infancy', 'Metabolic acidosis', 'Neonatal death', 'Methylmalonic aciduria']"
Alkaptonuria/Alkaptonuria,"['Seizure', 'Lethargy', 'Generalized hypotonia', 'Growth delay', 'Drowsiness', 'Sleep disturbance', 'Death in childhood', 'Dark urine']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Seizure', 'Death in infancy', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating leucine concentration', 'Abnormal circulating isoleucine concentration', 'Abnormal circulating valine concentration']"
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,"['Death in infancy', 'Cardiomegaly', 'Hypoglycemia', 'Increased serum lactate', 'Hepatomegaly', 'Tachypnea', 'Dicarboxylic aciduria', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating carnitine concentration']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Seizure', 'Lethargy', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Fever', 'Vomiting', 'Drowsiness', 'Progressive neurologic deterioration', 'Sleep disturbance', 'Glutaric aciduria', '3-Methylglutaric aciduria', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']"
"Maturity-onset diabetes of the young, type 1","['Hypoglycemia', 'Glycosuria', 'Abnormal circulating porphyrin concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Hydrocephalus', 'Macrocephaly', 'Hyperhidrosis', 'Seizure', 'Lethargy', 'Dystonia', 'Hyperreflexia', 'Death in infancy', 'Anemia', 'Fever', 'Vomiting', 'Cerebral atrophy', 'Opisthotonus', 'Drowsiness', 'Sleep disturbance', 'Fasciculations', 'Upper airway obstruction', 'Increased CSF protein concentration', 'Glutaric aciduria', 'Death in childhood', 'Recurrent viral infections', 'Chronic pulmonary obstruction', 'Death in adolescence']"
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']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Preeclampsia', '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', 'Elevated urinary carboxylic acid', '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', 'Death in childhood', 'Hyperphenylalaninemia']"
Hereditary orotic aciduria/Orotic aciduria,"['Skin rash', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Splenomegaly', 'Fever', 'Vomiting', 'Pneumonia', 'Hepatomegaly', 'Drowsiness', 'Sleep disturbance', 'Hyperglycinuria', 'Cystinuria', 'Oroticaciduria', 'Ornithinuria', 'Death in childhood', 'Abnormal circulating alanine concentration', 'Feeding difficulties', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule']"
全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency,"['Cyanosis', 'Eczematoid dermatitis', 'Skin rash', 'Generalized hypotonia', 'Death in infancy', 'Anemia', 'Metabolic acidosis', 'Hyperammonemia', 'Diarrhea', 'Tachypnea', 'Decreased pyruvate carboxylase activity', 'Propionyl-CoA carboxylase deficiency', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Abnormal circulating monocarboxylic acid concentration', 'Elevated urinary carboxylic acid']"
"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","['Apathy', 'Ataxia', 'Lethargy', 'Hyperammonemia', 'Vomiting', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Death in adolescence']"
"Short chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, short-chain, deficiency of","['Vomiting', 'Ethylmalonic aciduria', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Low-set ears', 'Wide nasal bridge', 'Anteverted nares', 'Ptosis', 'Syndactyly', 'Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Intellectual disability', 'Ataxia', 'Tremor', 'Death in infancy', 'Cerebral atrophy', 'Abnormal basal ganglia morphology', 'Neonatal death', 'Death in childhood', 'L-2-hydroxyglutaric aciduria']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Irritability', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Opisthotonus', 'Dicarboxylic aciduria', '3-Methylglutaconic aciduria', 'Neonatal death', 'Death in childhood', 'Elevated urinary carboxylic acid']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Eczematoid dermatitis', 'Skin rash', 'Seizure', 'Death in infancy', 'Fever', 'Elevated circulating C-reactive protein concentration', 'L-2-hydroxyglutaric aciduria', 'Decreased serum iron']"
"X-linked hypophosphatemia/Hypophosphatemic rickets, X-linked dominant","['Nephritis', 'Death in infancy', 'Hypophosphatemia', 'Abnormality of limb bone morphology', 'Abnormal circulating hormone concentration', 'Elevated circulating alkaline phosphatase concentration', 'Death in childhood']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Delayed speech and language development', 'Eczematoid dermatitis', 'Skin rash', 'Death in infancy', 'Leukopenia', 'Hyperammonemia', 'Hyperglycinemia', 'Hyperglycinuria', 'Elevated circulating alkaline phosphatase concentration', 'Death in childhood', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Abnormal circulating serine concentration', 'Elevated urinary carboxylic acid']"
"Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type","['Delayed speech and language development', 'Generalized hypotonia', 'Death in infancy', 'Hyperhomocystinemia', 'Abnormal cerebral white matter morphology', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Methylmalonic aciduria']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Death in infancy', 'Neonatal death', 'Elevated urinary carboxylic acid']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Lethargy', 'Spasticity', 'Generalized hypotonia', 'Hyperreflexia', 'Death in infancy', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Feeding difficulties']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Death in infancy', 'Metabolic acidosis', 'Decreased methylmalonyl-CoA mutase activity', 'Death in childhood']"
Glutathione synthetase deficiency,"['Hyperactivity', 'Spasticity', 'Death in infancy', 'Hemolytic anemia', 'Metabolic acidosis', 'Increased total bilirubin', 'Neonatal death', 'Recurrent viral infections', 'Abnormal circulating porphyrin concentration', 'Increased circulating lactate dehydrogenase concentration']"
"Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset","['Death in infancy', 'Premature birth', 'Hyperammonemia', 'Respiratory distress', 'Apnea', 'Neonatal death', 'Respiratory acidosis', 'Elevated plasma citrulline', 'Hypoxemia']"
"Methylmalonic aciduria, vitamin B12-responsive, cblB type","['Autistic behavior', 'Hypertension', 'Edema', 'Intellectual disability', 'Seizure', 'Coma', 'Generalized hypotonia', 'Death in infancy', 'Pancreatitis', 'Leukopenia', 'Anemia', 'Acute kidney injury', 'Hyperammonemia', 'Gout', 'Vomiting', 'Hyperuricemia', 'Increased serum lactate', 'Hyperglycinemia', 'Clumsiness', 'Poor coordination', 'Kyphoscoliosis', 'Hyponatremia', 'Methylmalonic acidemia', 'Hypoproteinemia', 'Short femur', 'Increased blood urea nitrogen', 'Elevated circulating alkaline phosphatase concentration', 'Decreased methylmalonyl-CoA mutase activity', 'Elevated circulating creatinine concentration', 'Increased circulating ferritin concentration', 'Death in childhood', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating valine concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Methylmalonic aciduria', 'Atransferrinemia', 'Chronic kidney disease', 'Death in early adulthood']"
"Dihydropteridine reductase deficiency/Hyperphenylalaninemia, bh4-deficient, C","['Microcephaly', 'Nystagmus', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Alopecia', 'Cerebral atrophy', 'Abnormal cerebral white matter morphology', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']"
"Mitochondrial complex IV deficiency, nuclear type 1","['Skin rash', 'Death in infancy', 'Glycosuria', 'Ethylmalonic aciduria', 'Cytochrome C oxidase-negative muscle fibers', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Functional abnormality of the gastrointestinal tract', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Cyanosis', 'Seizure', 'Death in infancy', 'Hyperammonemia', 'Cerebral edema', 'Fasciculations', 'Oroticaciduria', 'Low plasma citrulline', 'Neonatal death', 'Hypoargininemia']"
Canavan disease/Canavan disease,"['Skin rash', 'Seizure', 'Death in infancy', 'Hyperammonemia', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Seizure', 'Death in infancy', 'Respiratory insufficiency', 'Opisthotonus', 'Neonatal death', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Feeding difficulties', 'Sepsis']"
"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', 'Obesity', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Intellectual disability', 'Seizure', 'Motor delay', 'Death in infancy', 'Abnormal cerebral white matter morphology', 'Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in early adulthood', 'Dyskinesia']"
肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease,"['Generalized hypotonia', 'Splenomegaly', 'Hepatomegaly', 'Elevated hepatic transaminase', 'Death in childhood', 'Decreased circulating ceruloplasmin concentration', 'Increased urinary copper concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Death in adolescence', 'Decreased circulating copper concentration', 'Copper accumulation in liver']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Strabismus', 'Intellectual disability', 'Ataxia', 'Cerebellar atrophy', 'Generalized hypotonia', 'Death in infancy', 'Abnormal facial shape', 'Abnormal calvaria morphology', 'Cerebellar agenesis']"
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']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Generalized hypotonia', 'Death in infancy', 'Abnormal cerebral morphology', 'Increased serum lactate', 'Hypercalcemia', 'Glutaric aciduria', 'Abnormal circulating lysine concentration', 'Abnormal circulating carnitine concentration']"
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']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Microcephaly', 'Abnormality of prenatal development or birth', 'Small for gestational age', 'Death in infancy', 'Pericardial effusion', 'Pleural effusion', 'Hypertyrosinemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', '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","['Hyperammonemia', 'Vomiting', 'Hyperglutaminemia', 'Oroticaciduria', 'Death in childhood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Obesity', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia', 'Abnormal circulating tyrosine concentration', 'Elevated urinary carboxylic acid', 'Death in early adulthood']"
Pearson综合征/Pearson syndrome/Pearson syndrome/Pearson marrow-pancreas syndrome,"['Enlarged kidney', 'Ptosis', 'Photophobia', 'Lethargy', 'Coma', 'Generalized hypotonia', 'Death in infancy', 'Congestive heart failure', 'Exocrine pancreatic insufficiency', 'Thrombocytopenia', 'Neutropenia', 'Anemia', 'Acute kidney injury', 'Hypoglycemia', 'Renal Fanconi syndrome', 'Vomiting', 'Increased serum lactate', 'Drowsiness', 'Sleep disturbance', '3-Methylglutaric aciduria', 'Increased serum pyruvate', 'Neonatal death', 'Death in childhood', 'Short stature', 'Recurrent viral infections', 'Decreased plasma free carnitine', 'Abnormal circulating monocarboxylic acid concentration', 'Localized skin lesion', 'Feeding difficulties', 'Chronic kidney disease', 'Elevated urinary 3-hydroxybutyric acid']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Broad philtrum', 'Long philtrum', 'Anteverted nares', 'Syndactyly', 'Generalized hypotonia', 'Death in infancy', 'Deep philtrum', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties']"
"Acute intermittent porphyria/Porphyria, acute intermittent","['Vomiting', 'Abdominal pain', 'Death in childhood', 'Recurrent viral infections']"
"Citrullinemia type I/Citrullinemia, classic","['Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Hyperglycinuria', 'Hyperglutaminemia', 'Argininuria', 'Neonatal death', 'Abnormal circulating arginine concentration', 'Elevated plasma citrulline']"
"Methylmalonic aciduria, vitamin B12-responsive, cblB type","['Delayed speech and language development', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Dehydration', 'Hyperammonemia', 'Hyperhomocystinemia', 'Drowsiness', 'Sleep disturbance', 'Methylmalonic acidemia', 'Decreased plasma free carnitine', 'Methylmalonic aciduria']"
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,"['Hyperactivity', 'Generalized hypotonia', 'Death in infancy', 'Premature birth', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating creatine kinase concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Upper airway obstruction', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Chronic pulmonary obstruction']"
"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","['Spasticity', 'Death in infancy', 'Premature birth', 'Ileus', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Decreased circulating ferritin concentration', 'Hypoxemia', 'Peritoneal effusion', 'Abnormal vitamin B12 level', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Death in adolescence']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Death in infancy', 'Aminoaciduria', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']"
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency,"['Delayed speech and language development', 'Hyperactivity', 'Seizure', 'Ataxia', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Death in childhood', 'Elevated urinary carboxylic acid']"
Argininosuccinic aciduria/Argininosuccinic aciduria,"['Death in infancy', 'Tachycardia', 'Metabolic acidosis', 'Vomiting', 'Hepatomegaly', 'Tachypnea', 'Neonatal death']"
Gyrate atrophy of choroid and retina/Gyrate atrophy of choroid and retina with or without ornithinemia,"['Blindness', 'Anemia', 'Hyperammonemia', 'Malabsorption', 'Hyperglycinemia', 'Headache', 'Severe short stature', 'Death in childhood', 'Hypoargininemia', 'Death in adolescence', 'Feeding difficulties', 'Hyperornithinemia', 'Abnormal circulating serine concentration', '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', 'Death in childhood', 'Hyperphenylalaninemia']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Apathy', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Cerebral edema', 'Neonatal death', 'Feeding difficulties']"
Canavan disease/Canavan disease,"['Blindness', 'Nystagmus', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Opisthotonus', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal myelination', 'Severe hearing impairment']"
"Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type","['Hydrocephalus', 'Microcephaly', 'Strabismus', 'Nystagmus', 'Intellectual disability', 'Death in infancy', 'Premature birth', 'Respiratory insufficiency', 'Hyperhomocystinemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Methylmalonic aciduria', 'Dyskinesia']"
"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', 'Vomiting', 'Neonatal death', 'Gastrointestinal inflammation', 'Abnormal circulating carnitine concentration', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Generalized hypotonia', 'Death in infancy', 'Leukopenia', 'Metabolic acidosis', 'Hyperammonemia', 'Neonatal death']"
Tyrosinemia type 2/Tyrosine transaminase deficiency,"['Keratitis', 'Conjunctivitis', 'Photophobia', 'Hyperkeratosis', 'Intellectual disability', 'Seizure', 'Hypertyrosinemia', 'Death in childhood', 'Epiphora']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia', 'Abnormal circulating tyrosine concentration', 'Death in early adulthood']"
糖原累积病Ia型/Glycogen storage disease Ia/Glycogen storage disease Ia,"['Cyanosis', 'Seizure', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', '3-hydroxydicarboxylic aciduria']"
Alkaptonuria/Alkaptonuria,"['Death in infancy', 'Vomiting', 'Dark urine']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Seizure', 'Lethargy', 'Growth delay', 'Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Feeding difficulties', 'Severe hearing impairment', 'Elevated urinary carboxylic acid']"
"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","['Eczematoid dermatitis', 'Skin rash', 'Coma', 'Generalized hypotonia', 'Death in infancy', 'Hypoglycemia', 'Fever', 'Hyperammonemia', 'Vomiting', 'Cerebral edema', 'Athetosis', 'Hyperglutaminemia', 'Oroticaciduria', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Abnormal circulating proline concentration', 'Abnormal circulating arginine concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Uraciluria', 'Myocarditis', 'Abnormal circulating creatine kinase 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']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Spastic diplegia', 'Death in infancy', 'Cerebral cortical atrophy', 'Opisthotonus', 'Athetosis', 'Spastic tetraplegia', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Decreased plasma free carnitine']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Seizure', 'Death in infancy', 'Hypoglycemia', 'Hepatomegaly', 'Elevated hepatic transaminase', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Abnormality of acid-base homeostasis', 'Decreased plasma free carnitine', 'Elevated urinary carboxylic acid']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Seizure', 'Death in infancy', 'Anemia', 'Fever', 'Glutaric aciduria', 'Death in childhood']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Seizure', 'Death in infancy', 'Neonatal death', 'Elevated urinary carboxylic acid']"
Classic galactosemia/GALACTOSEMIA,"['Generalized hypotonia', 'Death in infancy', 'Elevated hepatic transaminase', 'Elevated circulating alkaline phosphatase concentration', 'Increased total bilirubin', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Hypergalactosemia', 'Decreased circulating ferritin concentration', 'Acute hepatitis', 'Chronic hepatitis']"
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']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']"
"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', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
"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","['Hypertension', 'Increased circulating renin level', 'Generalized hypotonia', 'Failure to thrive', 'Obesity', 'Death in infancy', 'Vomiting', 'Hyperkalemia', 'Hyponatremia', 'Decreased circulating renin level', 'Neonatal death', 'Death in childhood', 'Decreased circulating cortisol level', 'Feeding difficulties', 'Elevated circulating 17-hydroxyprogesterone concentration']"
Canavan disease/Canavan disease,"['Generalized hypotonia', 'Death in infancy', 'Abnormal circulating aspartate family amino acid concentration']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Cryptorchidism', 'Hypospadias', 'Microcephaly', 'Pointed chin', 'Short chin', 'Anteverted nares', 'Torticollis', 'Strabismus', 'Hypermetropia', 'Syndactyly', 'Intellectual disability', 'Hyporeflexia', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Premature birth', 'Bradycardia', 'Apnea', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Polydactyly', 'Elevated 7-dehydrocholesterol', '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","['Irritability', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Hyperglycinemia', 'Hyperglutaminemia', 'Oroticaciduria', 'Hyperalaninemia', 'Aminoaciduria', 'Abnormal circulating pyrimidine concentration', 'Decreased plasma free carnitine', 'Hyperprolinemia', 'Abnormal circulating arginine concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Uraciluria', 'Death in early adulthood']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Failure to thrive', 'Death in infancy', 'Hepatomegaly', 'Elevated hepatic transaminase', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', 'Hypermethioninemia', 'Aminoaciduria', '4-hydroxyphenylacetic aciduria', 'Prolonged partial thromboplastin time', 'Hyperphenylalaninemia', 'Abnormal circulating alanine concentration', 'Acute hepatitis', 'Chronic hepatitis']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Intellectual disability', 'Obesity', 'Death in infancy', 'Abnormal cerebral morphology', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Cerebellar atrophy', 'Death in childhood', 'Cerebellar agenesis']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Macrocephaly', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Death in infancy', 'Fever', 'Abnormal cerebral morphology', 'Severe hearing impairment', 'L-2-hydroxyglutaric aciduria', 'L-2-hydroxyglutaric acidemia']"
D-2-Hydroxyglutaric aciduria 1,"['Delayed speech and language development', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Opisthotonus', 'Neonatal death', 'Death in childhood', 'D-2-hydroxyglutaric aciduria']"
"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","['Conjunctivitis', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
"Maturity-onset diabetes of the young, type 1","['Proteinuria', 'Retinopathy', 'Hypertension', 'Acute kidney injury', 'Chronic kidney disease', 'Elevated hemoglobin A1c', 'Death in early adulthood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Intellectual disability', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Failure to thrive', 'Death in infancy', 'Hyperphenylalaninemia']"
异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia,"['Intellectual disability', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Increased serum lactate', 'Hyperglycinemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Feeding difficulties']"
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']"
"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","['Skin rash', 'Lethargy', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Diarrhea', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Decreased plasma free carnitine', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Obesity', 'Death in infancy', 'Fever', 'Diarrhea', 'Pneumonia', 'Upper airway obstruction', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Chronic pulmonary obstruction', 'Death in adolescence', 'Elevated urinary carboxylic acid']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Intellectual disability', 'Ataxia', 'Motor delay', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Pancreatitis', 'Thrombocytopenia', 'Abnormal erythrocyte morphology', 'Leukopenia', 'Metabolic acidosis', 'Dehydration', 'Hyperammonemia', 'Vomiting', 'Diarrhea', 'Pneumonia', 'Hyperuricemia', 'Increased serum lactate', 'Hyperglycinemia', 'Kyphoscoliosis', 'Methylmalonic acidemia', 'Hypoproteinemia', 'Increased blood urea nitrogen', 'Elevated circulating creatinine concentration', 'Hyperalaninemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Feeding difficulties', 'Methylmalonic aciduria', 'Severe hearing impairment', 'Sepsis']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Seizure', 'Areflexia', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Death in infancy', 'Severe hearing impairment', 'Elevated urinary carboxylic acid']"
Alkaptonuria/Alkaptonuria,"['Abnormal vertebral morphology', 'Death in childhood', 'Dark urine']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Microcephaly', 'Epicanthus', 'Low-set ears', 'Wide nasal bridge', 'Anteverted nares', 'Ptosis', 'Syndactyly', 'Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Failure to thrive', 'Death in infancy', 'Vomiting', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Polydactyly', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Apathy', 'Generalized hypotonia', 'Death in infancy', 'Vomiting', 'Diarrhea', 'Cerebral atrophy', 'Glutaric aciduria', 'Feeding difficulties']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Conjunctivitis', 'Delayed speech and language development', 'Growth delay', 'Obesity', 'Small for gestational age', 'Death in infancy', 'Premature birth', 'Abnormal erythrocyte morphology', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Abnormal circulating porphyrin concentration', 'Hypoxemia']"
精氨酸酶缺乏症/Arginase deficiency/Argininemia/Argininemia,"['Intellectual disability', 'Seizure', 'Spastic diplegia', 'Motor delay', 'Obesity', 'Anemia', 'Hyperammonemia', 'Progressive neurologic deterioration', 'Difficulty walking', 'Spastic tetraplegia', 'Oroticaciduria', 'Aminoaciduria', 'Difficulty climbing stairs', 'Prolonged partial thromboplastin time', 'Death in childhood', 'Difficulty running', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating proline concentration', 'Abnormal circulating arginine concentration', 'Abnormal circulating alanine concentration', 'Death in adolescence', 'Hyperornithinemia', 'Uraciluria', 'Increased circulating lactate dehydrogenase concentration', 'Death in early adulthood', 'Acute hepatitis', 'Chronic hepatitis']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Abnormality of the eye', 'Arachnodactyly', 'Peripheral arterial stenosis', 'Death in adolescence', 'Abnormal nervous system physiology']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Apathy', 'Generalized hypotonia', 'Death in infancy', 'Acute kidney injury', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Hyperuricemia', 'Hyperglycinemia', 'Tachypnea', 'Methylmalonic acidemia', 'Hyperglycinuria', 'Increased blood urea nitrogen', 'Elevated circulating creatinine concentration', 'Neonatal death', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Methylmalonic aciduria', 'Chronic kidney disease', 'Elevated urinary carboxylic acid']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Microcephaly', 'Intellectual disability', 'Seizure', 'Lethargy', 'Spasticity', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Neonatal death']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Seizure', 'Coma', 'Hepatic steatosis', 'Death in infancy', 'Hypoglycemia', 'Hyperammonemia', 'Vomiting', 'Gastrointestinal hemorrhage', 'Hypokalemia', 'Elevated hepatic transaminase', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating glycine concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Apathy', 'Seizure', 'Lethargy', 'Death in infancy', 'Metabolic acidosis', 'Vomiting', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Methylmalonic aciduria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Ventricular septal defect', 'Hypertyrosinemia', 'Neonatal death', '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']"
"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', 'Vomiting', 'Neonatal death', 'Abnormal circulating carnitine concentration', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
"3-methylglutaconic aciduria type 1/3-methylglutaconic aciduria, type I","['Delayed speech and language development', 'Motor delay', 'Death in infancy', '3-Methylglutaric aciduria', 'Death in childhood', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Microcephaly', 'Single transverse palmar crease', 'Pallor', 'Abnormality of prenatal development or birth', 'Motor delay', 'Failure to thrive', 'Small for gestational age', 'Death in infancy', 'Anemia', 'Metabolic acidosis', 'Hypoglycemia', 'Hyperammonemia', 'Vomiting', 'Pneumonia', 'Increased serum lactate', 'Increased CSF lactate', 'Hypocholesterolemia', 'Decreased methylmalonyl-CoA mutase activity', 'Neonatal death', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Feeding difficulties', 'Methylmalonic aciduria']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Seizure', 'Cerebral cortical atrophy', 'Death in adolescence', 'Methylmalonic aciduria', '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', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
"原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary","['Hypoglycemia', 'Death in childhood', 'Decreased plasma free carnitine', 'Acute hepatitis', 'Chronic hepatitis']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Ataxia', 'Tremor', 'Athetosis', 'Death in adolescence', 'L-2-hydroxyglutaric aciduria', 'Death in early adulthood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']"
"Maturity-onset diabetes of the young, type 1","['Diabetes mellitus', 'Abnormal nervous system physiology', 'Impaired glucose tolerance', 'Death in early adulthood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Ataxia', 'Obesity', 'Death in infancy', 'Apnea', 'Hypertyrosinemia', 'Paresthesia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in early adulthood']"
"Acute intermittent porphyria/Porphyria, acute intermittent","['Headache', 'Elevated urinary delta-aminolevulinic acid', 'Death in childhood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Carious teeth', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
"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","['Apathy', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Premature birth', 'Hypoglycemia', 'Leukocytosis', 'Hyperammonemia', 'Hypertriglyceridemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating carnitine concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Intellectual disability', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Bradycardia', 'Apnea', 'Opisthotonus', 'Neonatal death', 'Recurrent viral infections', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Fatigue', 'Body odor']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Generalized hypotonia', 'Death in infancy', 'Tachycardia', 'Fever', 'Hyperammonemia', 'Abnormality of urine homeostasis', 'Neonatal death', 'Feeding difficulties']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']"
Cystinuria/Cystinuria,"['Eczematoid dermatitis', 'Skin rash', 'Death in infancy', 'Cystinuria', 'Argininuria', 'Hyperlysinuria', 'Ornithinuria']"
"Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset","['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Elevated plasma citrulline']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Generalized hypotonia', 'Growth delay', 'Death in infancy', 'Tachycardia', 'Anemia', 'Tachypnea', 'Neonatal death', 'Abnormal nervous system physiology', 'Elevated urinary carboxylic acid']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Seizure', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Feeding difficulties', 'Methylmalonic aciduria']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Death in infancy', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Delayed speech and language development', 'Obesity', 'Death in infancy', 'Premature birth', 'Glutaric aciduria', 'Hyperalaninemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating lysine concentration', 'Hypervalinemia', 'Abnormal circulating carnitine concentration', 'Elevated plasma citrulline', 'Hypoxemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hyperactivity', 'Acne', 'Intellectual disability', 'Obesity', 'Hypertyrosinemia', 'Severe short stature', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Ataxia', 'Lethargy', 'Generalized hypotonia', 'Drowsiness', 'Sleep disturbance', 'Abnormal cerebral white matter morphology', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Death in childhood', 'Feeding difficulties']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Occipital neuralgia']"
"Citrullinemia type I/Citrullinemia, classic","['Dementia', 'Skin rash', 'Spasticity', 'Areflexia', 'Death in infancy', 'Fever', 'Hyperammonemia', 'Diarrhea', 'Cerebral edema', 'Hepatomegaly', 'Progressive neurologic deterioration', 'Hyperlysinuria', 'Hypoargininemia', 'Abnormal circulating methionine concentration', 'Abnormal circulating glutamine concentration', 'Abnormal circulating alanine concentration', 'Elevated plasma citrulline', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule']"
"3-methylglutaconic aciduria type 4/3-@methylglutaconic aciduria, type IV","['Spasticity', 'Pneumonia', '3-Methylglutaric aciduria', 'Death in childhood', 'Abnormality of acid-base homeostasis']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Death in infancy', 'Abnormal erythrocyte morphology', 'Thrombocytosis', 'Hypercalcemia', 'Hypoalbuminemia', 'Hypoproteinemia', 'Elevated circulating alkaline phosphatase concentration', 'Hypertyrosinemia', 'Increased total bilirubin', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration', 'Abnormal circulating porphyrin concentration', 'Hypergalactosemia']"
Gyrate atrophy of choroid and retina/Gyrate atrophy of choroid and retina with or without ornithinemia,"['Myopia', 'Nyctalopia', 'Hyperammonemia', 'Death in childhood', 'Death in adolescence', 'Hyperornithinemia']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypoglycemia', 'Hypophosphatemia', 'Hepatomegaly', 'Hypokalemia', 'Prolonged bleeding time', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Seizure', 'Generalized hypotonia', 'Growth delay', 'Death in infancy', 'Ventricular septal defect', 'Abnormal vertebral morphology', 'Stomatitis', 'Regional abnormality of skin', 'Gangrene']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Intellectual disability', 'Seizure', 'Spastic diplegia', 'Motor delay', 'Dystonia', 'Death in infancy', 'Athetosis', 'Spastic tetraplegia', 'Glutaric aciduria', 'Severe short stature', 'Paraplegia/paraparesis', 'Death in adolescence']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Intellectual disability', 'Seizure', 'Ataxia', 'Death in infancy', 'Fever', 'Death in adolescence', 'L-2-hydroxyglutaric aciduria']"
全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency,"['Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Tachypnea', 'Decreased pyruvate carboxylase activity', 'Propionyl-CoA carboxylase deficiency', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Abnormal renal tubule morphology', 'Enlarged kidney', 'Nephritis', 'Hematuria', 'Hypertension', 'Seizure', 'Cirrhosis', 'Hepatic fibrosis', 'Death in infancy', 'Polydipsia', 'Vomiting', 'Anorexia', 'Hepatomegaly', '4-Hydroxyphenylpyruvic aciduria', 'Abdominal distention', 'Aminoaciduria', 'Death in childhood', 'Elevated circulating alpha-fetoprotein concentration', 'Abnormal circulating tyrosine concentration', 'Abdominal mass']"
"Maturity-onset diabetes of the young, type 1","['Retinopathy', 'Cataract', 'Hypertension', 'Congestive heart failure', 'Myocardial infarction', 'Acute kidney injury', 'Progressive neurologic deterioration', 'Glycosuria', 'Chronic kidney disease', 'Elevated hemoglobin A1c', 'Death in early adulthood', 'Sepsis']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hyperphenylalaninemia', 'Abnormal circulating tyrosine concentration', 'Death in early adulthood']"
"Tyrosinemia, type III","['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']"
"Fructose-1,6-bisphosphatase deficiency/Fructose-1,6-bisphosphatase deficiency","['Apathy', 'Lethargy', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Drowsiness', 'Sleep disturbance', 'Glycosuria', 'Death in childhood', 'Impairment of fructose metabolism']"
Isolated glycerol kinase deficiency/Glycerol kinase deficiency,"['Delayed speech and language development', 'Death in infancy', 'Vomiting', 'Clumsiness', 'Poor coordination', 'Neonatal death', 'Death in childhood', 'Increased urinary glycerol']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Cerebellar atrophy', 'Encephalopathy', 'Death in infancy', 'Abnormal facial shape', 'Abnormal calvaria morphology', 'Neonatal death', 'Death in adolescence', 'Cerebellar agenesis', 'Acute hepatitis', 'Chronic hepatitis']"
Classic galactosemia/GALACTOSEMIA,"['Cataract', 'Abnormality of prenatal development or birth', 'Hepatic failure', 'Death in infancy', 'Atrial septal defect', 'Hyperammonemia', 'Conjugated hyperbilirubinemia', 'Increased total bilirubin', '4-hydroxyphenylacetic aciduria', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Hypergalactosemia']"
"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', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
"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', 'Abnormal circulating carnitine concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Intellectual disability', 'Ataxia', 'Death in infancy', 'Abnormal heart valve morphology', 'Hyperammonemia', 'Hyperglycinemia', 'Severe short stature', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Severe hearing impairment', 'Death in early adulthood']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Strabismus', 'Apathy', 'Delayed speech and language development', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Alopecia', 'Abdominal distention', 'Propionyl-CoA carboxylase deficiency', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Severe hearing impairment', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
N-乙酰谷氨酸合成酶缺乏症/N-acetylglutamate synthase deficiency; NAGSD/Hyperammonemia due to N-acetylglutamate synthase deficiency/N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY,"['Microcephaly', 'Strabismus', 'Delayed speech and language development', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Premature birth', 'Hyperammonemia', 'Neonatal death', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Abnormal circulating glutamine concentration', 'Feeding difficulties']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Acute kidney injury', 'Methylmalonic acidemia', 'Decreased plasma free carnitine', 'Abnormal circulating porphyrin concentration', 'Death in adolescence', 'Abnormal circulating creatinine concentration', 'Methylmalonic aciduria', 'Chronic kidney disease', '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', 'Death in childhood', 'Hyperphenylalaninemia']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Microcephaly', 'Strabismus', 'Apathy', 'Hyperactivity', 'Intellectual disability', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Hyperglycinemia', 'Hyperalaninemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Hyperleucinemia', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Feeding difficulties']"
Argininosuccinic aciduria/Argininosuccinic aciduria,"['Delayed speech and language development', 'Motor delay', 'Generalized hypotonia', 'Small for gestational age', 'Death in infancy', 'Premature birth', 'Fever', 'Hyperammonemia', 'Vomiting', 'Increased serum lactate', 'Elevated circulating alkaline phosphatase concentration', 'Oroticaciduria', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating proline concentration', 'Abnormal circulating arginine concentration', 'Hyperleucinemia', 'Abnormal circulating alanine concentration', 'Abnormal circulating carnitine concentration', 'Elevated plasma citrulline', 'Feeding difficulties', 'Fatigue']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Irritability', 'Hyperhidrosis', 'Lethargy', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Dehydration', 'Fever', 'Vomiting', 'Diarrhea', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Feeding difficulties', 'Dyskinesia']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Death in infancy', 'Cardiac arrest', 'Glutaric aciduria']"
Classic galactosemia/GALACTOSEMIA,"['Macrocephaly', 'Epistaxis', 'Carious teeth', 'Death in infancy', 'Tachycardia', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Seborrheic dermatitis', 'Seizure', 'Hyporeflexia', 'Generalized hypotonia', 'Death in infancy', 'Aminoaciduria', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid', 'Body odor']"
精氨酸酶缺乏症/Arginase deficiency/Argininemia/Argininemia,"['Irritability', 'Seizure', 'Lethargy', 'Motor delay', 'Failure to thrive', 'Death in infancy', 'Weight loss', 'Hyperammonemia', 'Cerebral edema', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Argininuria', 'Recurrent viral infections', 'Abnormal circulating arginine concentration', 'Feeding difficulties', 'Uraciluria']"
Classic galactosemia/GALACTOSEMIA,"['Cataract', 'Delayed speech and language development', 'Cholelithiasis', 'Intellectual disability', 'Spasticity', 'Failure to thrive', 'Death in infancy', 'Abnormal foot morphology', 'Vomiting', 'Hepatomegaly', 'Elevated hepatic transaminase', 'Elevated circulating alkaline phosphatase concentration', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Death in adolescence', 'Feeding difficulties', 'Hypergalactosemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Death in infancy', 'Hyperammonemia', 'Dyspnea', 'Abnormality of urine homeostasis', 'Neonatal death', 'Abnormal nervous system physiology']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death']"
肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease,"['Hepatic steatosis', 'Elevated hepatic transaminase', 'Death in childhood', 'Hyperphenylalaninemia', 'Decreased circulating ceruloplasmin concentration', 'Increased urinary copper concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Decreased circulating copper concentration']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Irritability', 'Ataxia', 'Coma', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Diarrhea', 'Increased serum lactate', 'Stroke-like episode', 'Recurrent viral infections', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Death in adolescence']"
"Autosomal dominant dopa-responsive dystonia/Dystonia, DOPA-responsive, with or without hyperphenylalaninemia","['Dystonia', 'Abnormal foot morphology', 'Difficulty walking', 'Skeletal muscle atrophy', 'Hypertyrosinemia', 'Difficulty climbing stairs', 'Death in childhood', 'Hyperphenylalaninemia', 'Contractures of the large joints', 'Difficulty running', 'Aplasia/Hypoplasia involving the musculature of the extremities', 'Abnormal circulating porphyrin concentration', 'Death in adolescence']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Generalized hypotonia', 'Obesity', 'Death in infancy', 'Ventricular septal defect', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia']"
"Mucopolysaccharidosis type 2/Mucopolysaccharidosis, type II","['Macroglossia', 'Macrocephaly', 'Coarse facial features', 'Hyperactivity', 'Splenomegaly', 'Hepatomegaly', 'Death in childhood', 'Recurrent viral infections', 'Death in adolescence', 'Feeding difficulties']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Cryptorchidism', 'Hypertension', 'Osteoporosis', 'Lethargy', 'Spastic diplegia', 'Generalized hypotonia', 'Hyperreflexia', 'Tachycardia', 'Abnormal foot morphology', 'Anemia', 'Acute kidney injury', 'Fever', 'Hyperammonemia', 'Vomiting', 'Hyperuricemia', 'Hyperkalemia', 'Hyperglycinemia', 'Sparse scalp hair', 'Drowsiness', 'Difficulty walking', 'Sleep disturbance', 'Spastic tetraplegia', 'Hypercalcemia', 'Hypoproteinemia', 'Increased blood urea nitrogen', 'Decreased methylmalonyl-CoA mutase activity', 'Hypernatremia', 'Elevated circulating creatinine concentration', 'Hyperalaninemia', 'Severe short stature', 'Difficulty climbing stairs', 'Death in childhood', 'Abnormal circulating leucine concentration', 'Recurrent viral infections', 'Difficulty running', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating isoleucine concentration', 'Abnormal circulating valine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Methylmalonic aciduria', 'Atransferrinemia', 'Chronic kidney disease', 'Severe hearing impairment', 'Abnormal circulating creatine kinase concentration', 'Death in early adulthood']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Vomiting', 'Hyperglutaminemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperleucinemia', 'Feeding difficulties', 'Methylmalonic aciduria']"
"Citrullinemia type I/Citrullinemia, classic","['Conjunctivitis', 'Death in infancy', 'Neonatal death', 'Elevated plasma citrulline']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hyperkeratosis', 'Eczematoid dermatitis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Pulmonic stenosis', 'Gastrointestinal hemorrhage', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Hyperphenylalaninemia']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Hypervalinemia', 'Hyperleucinemia', 'Abnormal circulating cysteine concentration', 'Sepsis', 'Metabolic alkalosis']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Obesity', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Cerebellar atrophy', 'Failure to thrive', 'Death in infancy', 'Elevated hepatic transaminase', 'Feeding difficulties', 'Cerebellar agenesis']"
Refsum disease/Refsum disease,"['Macroglossia', 'Wide nasal bridge', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Areflexia', 'Generalized hypotonia', 'Death in infancy', 'Abnormal foot morphology', 'Pneumonia', 'Difficulty walking', 'Kyphoscoliosis', 'Skeletal muscle atrophy', 'Abdominal distention', 'Difficulty climbing stairs', 'Death in childhood', 'Ichthyosis', 'Difficulty running', 'Aplasia/Hypoplasia involving the musculature of the extremities', 'Elevated circulating phytanic acid concentration', 'Death in adolescence', 'Severe hearing impairment']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Cleft palate', 'Microcephaly', 'Epicanthus', 'Low-set ears', 'Anteverted nares', 'Strabismus', 'Ptosis', 'Nystagmus', 'Delayed speech and language development', 'Nevus flammeus', 'Syndactyly', 'Intellectual disability', 'Lethargy', 'Motor delay', 'Generalized hypotonia', 'Failure to thrive', 'Death in infancy', 'Athetosis', 'Drowsiness', 'Sleep disturbance', 'Hypercholesterolemia', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Seizure', 'Spastic diplegia', 'Encephalopathy', 'Death in infancy', 'Fever', 'Spastic tetraplegia', 'Tachypnea', 'Glutaric aciduria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Seizure', 'Death in infancy', 'Ventricular septal defect', 'Atrial septal defect', 'Anemia', 'Hypoglycemia', 'Hepatomegaly', 'Tachypnea', 'Dicarboxylic aciduria', '3-Methylglutaconic aciduria', 'Neonatal death', 'Feeding difficulties', 'Elevated urinary carboxylic acid']"
"Methylmalonic aciduria, vitamin B12-responsive, cblA type","['Delayed speech and language development', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Dehydration', 'Fever', 'Vomiting', 'Respiratory distress', 'Methylmalonic acidemia', 'Hyperglycinuria', 'Hypercholesterolemia', 'Hyperalaninemia', 'Death in childhood', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Methylmalonic aciduria']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Seizure', 'Death in infancy', 'Alopecia', 'Death in childhood', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Gastroesophageal reflux', 'Increased serum lactate', 'Hematemesis', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Death in infancy', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Vomiting', 'Hepatomegaly', 'Tachypnea', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Neonatal death', 'Elevated urinary carboxylic acid']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Ataxia', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Metabolic acidosis', 'Glutaric aciduria', 'Decreased plasma free carnitine', 'Dyskinesia']"
Classic galactosemia/GALACTOSEMIA,"['Death in infancy', 'Neonatal death', 'Hypergalactosemia']"
Cystinuria/Cystinuria,"['Cystinuria', 'Argininuria', 'Ornithinuria', 'Abnormal circulating lysine concentration', 'Death in adolescence']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Strabismus', 'Intellectual disability', 'Seizure', 'Motor delay', 'Cerebellar atrophy', 'Death in infancy', 'Hepatomegaly', 'Hypoproteinemia', 'Hypocholesterolemia', 'Lipodystrophy', 'Cerebellar agenesis', 'Acute hepatitis', 'Chronic hepatitis']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Osteoporosis', 'Generalized hypotonia', 'Obesity', 'Abnormal foot morphology', 'Leukopenia', 'Hyperammonemia', 'Hyperglycinemia', 'Clumsiness', 'Poor coordination', 'Hyperalaninemia', 'Severe short stature', 'Death in childhood', 'Gastrointestinal inflammation', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Hyperleucinemia', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Severe hearing impairment', 'Death in early adulthood']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Pallor', 'Death in infancy', 'Ascites', 'Thrombocytosis', 'Anemia', 'Hepatomegaly', 'Hypoalbuminemia', 'Hypoproteinemia', 'Elevated circulating alkaline phosphatase concentration', 'Hypertyrosinemia', 'Aminoaciduria', 'Elevated circulating alpha-fetoprotein concentration', 'Abnormal circulating porphyrin concentration', 'Pustule']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Strabismus', 'Intellectual disability', 'Motor delay', 'Cerebellar atrophy', 'Tremor', 'Death in childhood', 'Cerebellar agenesis']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Generalized hypotonia', 'Death in infancy', 'Vomiting', 'Dicarboxylic aciduria', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating leucine concentration', 'Abnormal circulating isoleucine concentration', 'Elevated urinary carboxylic acid']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Cleft palate', 'Broad philtrum', 'Long philtrum', 'Wide nasal bridge', 'Anteverted nares', 'Glaucoma', 'Cataract', 'Abnormal external genitalia', 'Syndactyly', 'Generalized hypotonia', 'Death in infancy', 'Deep philtrum', 'Vomiting', 'Pyloric stenosis', 'High, narrow palate', 'Hypocholesterolemia', 'Abdominal distention', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Elevated 7-dehydrocholesterol', 'Feeding difficulties']"
β-酮硫解酶缺乏症/β-ketothiolase deficiency; BKD; Mitochondrial acetoacetyl-CoA thiolase [3-oxothiolase] deficiency/Beta-ketothiolase deficiency/Alpha-Methylacetoacetic aciduria,"['Intellectual disability', 'Coma', 'Motor delay', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Hyperammonemia', 'Respiratory distress', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Seizure', 'Dystonia', 'Death in infancy', 'Glutaric aciduria', 'Paraplegia/paraparesis', 'Feeding difficulties']"
"Ceroid lipofuscinosis, neuronal, 1","['Microcephaly', 'Facial asymmetry', 'Torticollis', 'Macular degeneration', 'Delayed speech and language development', 'Hyperactivity', 'Seizure', 'Ataxia', 'Spastic diplegia', 'Death in infancy', 'Diarrhea', 'Cerebral atrophy', 'Pneumonia', 'Opisthotonus', 'Athetosis', 'Spastic tetraplegia', 'Abnormal cerebral cortex morphology', 'Neonatal death', 'Death in childhood', 'Dyskinesia']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Generalized hypotonia', 'Death in infancy', 'Bradycardia', 'Hypothermia', 'Apnea', 'Propionic acidemia', 'Neonatal death', 'Feeding difficulties', 'Fatigue']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Abnormality of prenatal development or birth', 'Death in infancy', 'Increased serum lactate', 'Neonatal death']"
"Mitochondrial complex IV deficiency, nuclear type 1","['Eczematoid dermatitis', 'Skin rash', 'Seizure', 'Lethargy', 'Death in infancy', 'Constipation', 'Respiratory insufficiency', 'Drowsiness', 'Sleep disturbance', 'Ethylmalonic aciduria', 'Cytochrome C oxidase-negative muscle fibers', 'Abnormal circulating glycine concentration']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Cyanosis', 'Seizure', 'Death in infancy', 'Bradycardia', 'Acute kidney injury', 'Vomiting', 'Respiratory insufficiency', 'Increased serum lactate', 'Hyperkalemia', 'Hematemesis', 'Dicarboxylic aciduria', '3-Methylglutaconic aciduria', 'Excessive salivation', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Hypoxemia', 'Chronic kidney disease', 'Increased circulating lactate dehydrogenase concentration', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
Cystinuria/Cystinuria,"['Recurrent urinary tract infections', 'Nephritis', 'Hematuria', 'Death in infancy', 'Cystinuria', 'Argininuria', 'Hyperlysinuria', 'Ornithinuria']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Aminoaciduria', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Lethargy', 'Generalized hypotonia', 'Dystonia', 'Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Dyspnea', 'Athetosis', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Dyskinesia']"
异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia,"['Lethargy', 'Death in infancy', 'Thrombocytopenia', 'Leukopenia', 'Hypoglycemia', 'Dehydration', 'Fever', 'Hyperammonemia', 'Abdominal pain', 'Hypothermia', 'Pneumonia', 'Hyperglycinemia', 'Drowsiness', 'Sleep disturbance', 'Hyperalaninemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Abnormality of bone marrow cell morphology', 'Hypervalinemia', 'Hyperisoleucinemia', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Feeding difficulties', 'Fatigue', 'Body odor']"
"Homocystinuria due to methylene tetrahydrofolate reductase deficiency/Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity","['Microcephaly', 'Optic atrophy', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Ataxia', 'Spastic diplegia', 'Thromboembolism', 'Hyperhomocystinemia', 'Spastic tetraplegia', 'Hypomethioninemia', 'Death in childhood', '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","['Abnormality of prenatal development or birth', 'Death in infancy', 'Vomiting', 'Diarrhea', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Abnormal circulating carnitine concentration']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypoglycemia', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Abnormal nervous system physiology', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Strabismus', 'Delayed speech and language development', 'Intellectual disability', 'Cirrhosis', 'Hepatic fibrosis', 'Death in infancy', 'Hyperuricemia', 'Neoplasm of the liver', 'Elevated circulating alkaline phosphatase concentration', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Elevated circulating alpha-fetoprotein concentration', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Death in adolescence', 'Decreased circulating ferritin concentration', 'Decreased serum iron']"
"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","['Lethargy', 'Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Hypothermia', 'Pneumonia', 'Hyperglycinemia', 'Hepatomegaly', 'Drowsiness', 'Sleep disturbance', 'Elevated hepatic transaminase', 'Hyperglycinuria', 'Elevated circulating alkaline phosphatase concentration', 'Dicarboxylic aciduria', 'Hyperglutaminemia', 'Oroticaciduria', 'Hyperalaninemia', 'Prolonged partial thromboplastin time', 'Death in childhood', 'Abnormal circulating pyrimidine concentration', 'Recurrent viral infections', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating proline concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Uraciluria', 'Fatigue', 'Increased circulating lactate dehydrogenase concentration', 'Acute hepatitis', 'Chronic hepatitis']"
"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', 'Hypoglycemia', 'Dehydration', 'Fever', 'Vomiting', 'Diarrhea', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Fatigue']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Delayed speech and language development', 'Eczematoid dermatitis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Fever', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Motor delay', 'Obesity', 'Death in infancy', 'Premature birth', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Generalized hypotonia', 'Growth delay', 'Death in infancy', 'Vomiting', 'Neonatal death', 'Feeding difficulties', 'Elevated urinary carboxylic acid', 'Body odor']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Hypospadias', 'Microcephaly', 'Abnormality of prenatal development or birth', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', '4-hydroxyphenylacetic aciduria', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration']"
"遗传性果糖不耐受症/Hereditary fructose intoleranc; HFI/Hereditary fructose intolerance/Fructose intolerance, hereditary","['Hyporeflexia', 'Generalized hypotonia', 'Hepatic steatosis', 'Death in infancy', 'Tachycardia', 'Dehydration', 'Fever', 'Vomiting', 'Abdominal pain', 'Dyspnea', 'Increased serum lactate', 'Hypertriglyceridemia', 'Hepatomegaly', 'Tachypnea', 'Skeletal muscle atrophy', 'Hyperalaninemia', 'Aminoaciduria', 'Neonatal death', 'Aplasia/Hypoplasia involving the musculature of the extremities', 'Feeding difficulties', 'Abnormal myelination', 'Abdominal mass']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Athetosis', 'Glutaric aciduria', 'Elevated circulating acylcarnitine concentration', 'Dyskinesia']"
"Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset","['Death in infancy', 'Premature birth', 'Hyperammonemia', 'Pneumonia', 'Pregnancy history', 'Neonatal death', 'Death in childhood', 'Hypoargininemia', 'Elevated plasma citrulline', 'Hernia']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Intellectual disability', 'Thromboembolism', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Death in adolescence', 'Death in early adulthood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Obesity', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid', '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","['Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Hypoglycemia', 'Hyperammonemia', 'Vomiting', 'Drowsiness', 'Sleep disturbance', 'Death in childhood', 'Decreased plasma free carnitine']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Death in infancy', 'Glutaric aciduria', 'Neonatal death']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Hypospadias', 'Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Generalized hypotonia', 'Death in infancy', 'Difficulty walking', 'Difficulty climbing stairs', 'Neonatal death', 'Death in childhood', 'Difficulty running']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Lethargy', 'Drowsiness', 'Sleep disturbance', 'Bone pain', 'Hypertyrosinemia', '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","['Intellectual disability', 'Lethargy', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Drowsiness', 'Sleep disturbance', 'Hyperglutaminemia', 'Oroticaciduria', 'Hyperalaninemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating arginine concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Feeding difficulties']"
"Maturity-onset diabetes of the young, type 1","['Death in childhood', 'Death in adolescence', 'Impaired glucose tolerance', 'Death in early adulthood']"
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', 'Metabolic acidosis', 'Glutaric aciduria', 'Neonatal death', 'Decreased plasma free carnitine']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Hypertyrosinemia', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Psychosis', 'Eczematoid dermatitis', 'Skin rash', 'Intellectual disability', 'Death in infancy', 'Abdominal pain', 'Vertigo', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Occipital neuralgia', 'Elevated urinary carboxylic acid', 'Death in early adulthood', 'Pustule']"
Classic galactosemia/GALACTOSEMIA,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Abnormal erythrocyte morphology', 'Thrombocytosis', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating porphyrin concentration', 'Abnormality of vitamin D metabolism']"
"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', 'Vomiting', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Decreased plasma free carnitine', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
"Citrullinemia type I/Citrullinemia, classic","['Seizure', 'Death in infancy', 'Tachycardia', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Increased serum lactate', 'Fasciculations', 'Tachypnea', 'Neonatal death', 'Abnormal circulating citrulline concentration', 'Feeding difficulties']"
"Citrullinemia type I/Citrullinemia, classic","['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Elevated plasma citrulline', 'Uraciluria']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Carious teeth', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Spastic diplegia', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Diarrhea', 'Respiratory insufficiency', 'Difficulty walking', 'Spastic tetraplegia', 'Difficulty climbing stairs', 'Excessive salivation', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Difficulty running', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Death in adolescence', 'Death in early adulthood']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Abnormality of prenatal development or birth', 'Small for gestational age', 'Death in infancy', 'Hyperammonemia', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Intellectual disability', 'Paresthesia', 'Hyperphenylalaninemia', 'Death in early adulthood', 'Acute hepatitis', 'Chronic hepatitis']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Seizure', 'Death in childhood', 'Elevated urinary carboxylic acid']"
Classic galactosemia/GALACTOSEMIA,"['Delayed speech and language development', 'Intellectual disability', 'Death in infancy', 'Hyperthreoninuria', 'Neonatal death', 'Death in childhood', 'Abnormality of galactoside metabolism', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating tyrosine concentration', 'Galactosuria', 'Hypergalactosemia']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Death in infancy', 'Anemia', 'Hyperhomocystinemia', 'Abnormal circulating porphyrin concentration', 'Abnormal blood folate concentration', 'Abnormal vitamin B12 level']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia']"
Hawkinsinuria/Hawkinsinuria,"['Nephritis', 'Failure to thrive', 'Death in infancy', 'Vomiting', 'Diarrhea', 'Hepatomegaly', 'Abnormal circulating tyrosine concentration', 'Elevated urinary carboxylic acid']"
Argininosuccinic aciduria/Argininosuccinic aciduria,"['Apathy', 'Death in infancy', 'Oroticaciduria', 'Neonatal death', 'Feeding difficulties', 'Sepsis']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Jaundice', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Conjugated hyperbilirubinemia', 'Elevated circulating alkaline phosphatase concentration', 'Hypertyrosinemia', 'Increased total bilirubin', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Petechiae', 'Abnormality of skin pigmentation', 'Death in infancy', 'Thrombocytopenia', 'Hypoglycemia', 'Hyperammonemia', 'Elevated circulating alkaline phosphatase concentration', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', 'Hypermethioninemia', 'Prolonged partial thromboplastin time', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration', 'Pigmentation of the sclera', 'Ichthyosis', 'Abnormal circulating porphyrin concentration']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Cryptorchidism', 'Hypospadias', 'Intellectual disability', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Encephalopathy', 'Failure to thrive', 'Obesity', 'Death in infancy', 'Leukopenia', 'Leukocytosis', 'Hyperammonemia', 'Pyloric stenosis', 'Respiratory insufficiency', 'Hyperglycinemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Feeding difficulties', 'Sepsis']"
"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', 'Decreased plasma free carnitine']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Abnormal saccadic eye movements', 'Abnormality of visual evoked potentials', 'Seizure', 'Spasticity', 'Death in infancy', 'Hypoglycemia', 'Fever', 'Hyperammonemia', 'Abnormal cerebral morphology', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Decreased plasma free carnitine', 'Paraplegia/paraparesis', 'Elevated circulating acylcarnitine concentration']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Abnormality of urine homeostasis', 'Neonatal death', 'Death in childhood']"
"Mitochondrial complex IV deficiency, nuclear type 1","['Delayed speech and language development', 'Ataxia', 'Dysarthria', 'Spastic diplegia', 'Motor delay', 'Generalized hypotonia', 'Hyperreflexia', 'Growth delay', 'Death in infancy', 'Abnormal foot morphology', 'Diarrhea', 'Abnormal basal ganglia morphology', 'Increased serum lactate', 'Spastic tetraplegia', 'Ethylmalonic aciduria', 'Increased serum pyruvate', 'Cytochrome C oxidase-negative muscle fibers', 'Death in childhood', 'Death in adolescence']"
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', 'Fever', 'Abnormal cerebral morphology', 'Glutaric aciduria', 'Decreased plasma free carnitine', 'Prominent forehead', 'Feeding difficulties']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Strabismus', 'Intellectual disability', 'Ataxia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Death in childhood', 'Cerebellar agenesis']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Seizure', 'Death in infancy', 'Metabolic acidosis', 'Tachypnea', '3-Methylglutaric aciduria', 'Neonatal death']"
全羧化酶合成酶缺乏症/Holocarboxylase synthetas deficiency; HLCS/Holocarboxylase synthetase deficiency/Holocarboxylase synthetase deficiency,"['Apathy', 'Eczematoid dermatitis', 'Skin rash', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Increased serum lactate', 'Hepatomegaly', 'Decreased pyruvate carboxylase activity', 'Propionyl-CoA carboxylase deficiency', 'Aminoaciduria', 'Abnormal circulating glycine concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']"
"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","['Generalized hypotonia', 'Death in infancy', 'Weight loss', 'Fever', 'Dyspnea', 'Oroticaciduria', 'Neonatal death', 'Inappropriate crying']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Encephalopathy', 'Death in infancy', 'Hypoglycemia', 'Hyperammonemia', 'Increased serum lactate', 'Abnormal cerebral white matter morphology', 'Glutaric aciduria', '3-Methylglutaric aciduria', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Abnormal circulating carnitine concentration', 'Abnormal circulating monocarboxylic acid concentration', 'Feeding difficulties', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Delayed speech and language development', 'Severe short stature', 'Death in childhood', 'Hyperphenylalaninemia']"
"酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I","['Irritability', 'Hyperinsulinemia', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Thrombocytopenia', 'Abnormal bleeding', 'Hypoglycemia', 'Hyperammonemia', 'Elevated circulating alkaline phosphatase concentration', '4-Hydroxyphenylpyruvic aciduria', 'Hypertyrosinemia', 'Hypermethioninemia', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated circulating alpha-fetoprotein concentration', 'Abnormal circulating porphyrin concentration', 'Hyperalbuminemia']"
Fanconi-Bickel syndrome/Fanconi-Bickel syndrome,"['Nephrocalcinosis', 'Epistaxis', 'Failure to thrive', 'Death in infancy', 'Pulmonic stenosis', 'Increased serum lactate', 'Hepatomegaly', 'Hypokalemia', 'Hypermagnesemia', 'Hypercholesterolemia', 'High serum calcitriol', 'Elevated circulating alkaline phosphatase concentration', 'Hyperalaninemia', 'Aminoaciduria', 'Increased serum iron', 'Severe short stature', 'Hypouricemia', 'Death in childhood', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Death in adolescence']"
糖原累积病Ia型/Glycogen storage disease Ia/Glycogen storage disease Ia,"['Seizure', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Dicarboxylic aciduria', 'Neonatal death', 'Feeding difficulties']"
"Fructose-1,6-bisphosphatase deficiency/Fructose-1,6-bisphosphatase deficiency","['Seizure', 'Lethargy', 'Death in infancy', 'Tachycardia', 'Metabolic acidosis', 'Hypoglycemia', 'Vomiting', 'Increased serum lactate', 'Drowsiness', 'Sleep disturbance', 'Tachypnea', 'Feeding difficulties', 'Elevated urinary 3-hydroxybutyric acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Intellectual disability', 'Spasticity', 'Motor delay', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Irritability', 'Intellectual disability', 'Motor delay', 'Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Hyperglycinemia', 'Opisthotonus', 'Methylmalonic acidemia', 'Decreased methylmalonyl-CoA mutase activity', 'Neonatal death', 'Hypervalinemia', 'Abnormal circulating carnitine concentration', 'Feeding difficulties', 'Abnormal circulating creatinine concentration', 'Methylmalonic aciduria', 'Abnormality of vitamin D metabolism', 'Death in early adulthood']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Microcephaly', 'Carious teeth', 'Delayed speech and language development', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']"
Hawkinsinuria/Hawkinsinuria,"['Nephritis', 'Failure to thrive', 'Growth delay', 'Death in infancy', 'Vomiting', 'Diarrhea', 'Abnormal circulating tyrosine concentration', 'Elevated urinary carboxylic acid']"
"Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type","['Microcephaly', 'Strabismus', 'Nystagmus', 'Optic atrophy', 'Self-mutilation', 'Severely reduced visual acuity', 'Intellectual disability', 'Seizure', 'Lethargy', 'Motor delay', 'Cholestasis', 'Failure to thrive', 'Death in infancy', 'Ventricular septal defect', 'Thrombocytopenia', 'Neutropenia', 'Leukopenia', 'Anemia', 'Hyperammonemia', 'Respiratory distress', 'Hyperhomocystinemia', 'Hepatomegaly', 'Drowsiness', 'Sleep disturbance', 'Abnormality of limb bone morphology', 'Hypermethioninemia', 'Hypomethioninemia', 'Neonatal death', 'Death in childhood', 'Abnormality of acid-base homeostasis', 'Decreased plasma free carnitine', 'Abnormal circulating dicarboxylic acid concentration', 'Methylmalonic aciduria', 'Dyskinesia']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Death in infancy', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Death in adolescence', 'Death in early adulthood', 'Pustule']"
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,"['Lethargy', 'Generalized hypotonia', 'Hepatic steatosis', 'Death in infancy', 'Cardiomegaly', 'Pericardial effusion', 'Metabolic acidosis', 'Hypoglycemia', 'Hyperammonemia', 'Vomiting', 'Diarrhea', 'Dyspnea', 'Hepatomegaly', 'Drowsiness', 'Sleep disturbance', 'Tachypnea', 'Paroxysmal tachycardia', 'Decreased plasma free carnitine', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Increased circulating lactate dehydrogenase concentration']"
Classic galactosemia/GALACTOSEMIA,"['Intellectual disability', 'Severe short stature', 'Death in childhood', 'Abnormality of galactoside metabolism']"
"Carnitine palmitoyl transferase II deficiency, myopathic form/Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced","['Difficulty walking', 'Myalgia', 'Difficulty climbing stairs', 'Episodic flaccid weakness', 'Death in childhood', 'Difficulty running', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating carnitine concentration', 'Abnormal circulating creatine kinase concentration', 'Episodic quadriplegia']"
Canavan disease/Canavan disease,"['Macrocephaly', 'Strabismus', 'Delayed speech and language development', 'Seizure', 'Ataxia', 'Lethargy', 'Death in infancy', 'Abnormal cerebral morphology', 'Increased serum lactate', 'Drowsiness', 'Progressive neurologic deterioration', 'Sleep disturbance', 'Death in childhood', 'Abnormal circulating aspartate family amino acid concentration']"
Cystinuria/Cystinuria,"['Recurrent urinary tract infections', 'Death in infancy', 'Cystinuria', 'Argininuria', 'Hyperlysinuria', 'Ornithinuria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Fever', 'Hypertyrosinemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Microcephaly', 'Diabetes mellitus', 'Intellectual disability', 'Seizure', 'Death in infancy', 'Abnormal cerebral white matter morphology', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood', 'Body odor']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Hematuria', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Diarrhea', 'Increased serum lactate', 'Increased CSF lactate', 'Feeding difficulties', 'Methylmalonic aciduria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Intellectual disability', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']"
"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","['Apathy', 'Intellectual disability', 'Obesity', 'Death in infancy', 'Splenomegaly', 'Hyperammonemia', 'Vomiting', 'Hyperlysinemia', 'Hepatomegaly', 'Elevated hepatic transaminase', 'Elevated circulating alkaline phosphatase concentration', 'Hyperglutaminemia', 'Oroticaciduria', 'Hyperalaninemia', 'Elevated circulating glutaric acid concentration', 'Low plasma citrulline', 'Prolonged partial thromboplastin time', 'Recurrent viral infections', 'Abnormal circulating arginine concentration', 'Death in adolescence', 'Abnormal circulating ornithine concentration', 'Uraciluria', 'Abnormal circulating creatine kinase concentration']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Delayed speech and language development', 'Pallor', 'Intellectual disability', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Leukopenia', 'Anemia', 'Hyperammonemia', 'Hyperglycinemia', 'Drowsiness', 'Sleep disturbance', 'Hyperalaninemia', 'Death in childhood', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Atransferrinemia', 'Severe hearing impairment', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
"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']"
Alkaptonuria/Alkaptonuria,"['Generalized hypotonia', 'Growth delay', 'Death in infancy', 'Facial palsy', 'Dark urine']"
"Citrullinemia type I/Citrullinemia, classic","['Apathy', 'Cyanosis', 'Seizure', 'Death in infancy', 'Hyperammonemia', 'Opisthotonus', 'Cerebral edema', 'Oroticaciduria', 'Neonatal death', 'Feeding difficulties']"
丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia,"['Apathy', 'Delayed speech and language development', 'Seizure', 'Motor delay', 'Generalized hypotonia', 'Hepatic failure', 'Growth delay', 'Death in infancy', 'Congestive heart failure', 'Pancreatitis', 'Exocrine pancreatic insufficiency', 'Thrombocytopenia', 'Leukopenia', 'Anemia', 'Acute kidney injury', 'Dehydration', 'Hyperammonemia', 'Pneumonia', 'Hyperuricemia', 'Increased serum lactate', 'Hyperglycinemia', 'Cerebral edema', 'Sparse scalp hair', 'Hepatomegaly', 'Elevated hepatic transaminase', 'Hyperglycinuria', 'Increased blood urea nitrogen', 'Elevated circulating creatinine concentration', 'Hyperalaninemia', 'Prolonged partial thromboplastin time', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating glutamine concentration', 'Abnormal circulating isoleucine concentration', 'Abnormal circulating valine concentration', 'Abnormal circulating cysteine concentration', 'Abnormal circulating carnitine concentration', 'Abnormal circulating monocarboxylic acid concentration', 'Chronic kidney disease', 'Increased circulating lactate dehydrogenase concentration', 'Elevated urinary carboxylic acid']"
"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', 'Lethargy', 'Hyperreflexia', 'Fever', 'Hyperammonemia', 'Vomiting', 'Cerebral edema', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Death in childhood', 'Abnormal circulating ornithine concentration']"
3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency,"['Cyanosis', 'Seizure', 'Death in infancy', 'Bradycardia', 'Vomiting', 'Dicarboxylic aciduria', 'Neonatal death']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Death in adolescence', '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']"
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency,"['Delayed speech and language development', 'Hyperactivity', 'Intellectual disability', 'Seizure', 'Generalized hypotonia', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormal circulating monocarboxylic acid concentration', 'Elevated urinary carboxylic acid']"
"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', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia', 'Pustule']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Microcephaly', 'Strabismus', 'Hypothyroidism', 'Intellectual disability', 'Seizure', 'Motor delay', 'Death in infancy', 'Constipation', 'Elevated circulating thyroid-stimulating hormone concentration', 'Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia']"
"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', 'Abnormal circulating carnitine concentration']"
"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', 'Abnormal foot morphology', 'Fever', 'Tachypnea', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence']"
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']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']"
"原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary","['Cardiomyopathy', 'Decreased plasma free carnitine', 'Death in adolescence', 'Abnormal circulating acetylcarnitine concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Intellectual disability', 'Obesity', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Abnormal vitamin B12 level', 'Elevated urinary carboxylic acid']"
"Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to","['Coma', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Vomiting', 'Diarrhea', 'Hypothermia', 'Dyspnea', 'Opisthotonus', 'Cerebral edema', 'Tachypnea', 'Glycosuria', 'Prolonged partial thromboplastin time', 'Neonatal death', 'Recurrent viral infections', 'Sepsis']"
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']"
"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', 'Failure to thrive', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Abnormal circulating carnitine concentration']"
Canavan disease/Canavan disease,"['Blindness', 'Motor delay', 'Hyperreflexia', 'Death in infancy', 'Opisthotonus', 'Abnormal circulating aspartate family amino acid concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Carious teeth', 'Intellectual disability', 'Death in childhood', 'Hyperphenylalaninemia', 'Ichthyosis', 'Abnormal circulating tyrosine concentration', 'Death in adolescence']"
"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency/Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency","['Hypospadias', 'Micropenis', 'Conjunctivitis', 'Large for gestational age', 'Death in infancy', 'Dehydration', 'Fever', 'Vomiting', 'Diarrhea', 'Hyperkalemia', 'Hyponatremia', 'Hypercalcemia', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Feeding difficulties', 'Occipital neuralgia', 'Increased serum testosterone level', 'Elevated circulating 17-hydroxyprogesterone concentration']"
"Short chain acyl-CoA dehydrogenase deficiency/Acyl-Coa dehydrogenase, short-chain, deficiency of","['Hyperhidrosis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Generalized hypotonia', 'Death in infancy', 'Elevated circulating alkaline phosphatase concentration', 'Ethylmalonic aciduria', 'Hypertyrosinemia', 'Hyperalaninemia', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating carnitine concentration', 'Erythematous plaque', 'Erythematous macule', 'Erythematous papule', 'Abnormal circulating creatine kinase concentration']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Nephrotic syndrome', 'Tremor', 'Death in childhood', 'L-2-hydroxyglutaric aciduria']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Generalized hypotonia', 'Death in infancy', 'Weight loss', 'Hyperammonemia', 'Vomiting', 'Increased serum lactate', 'Methylmalonic aciduria']"
L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria,"['Strabismus', 'Delayed speech and language development', 'Death in childhood', 'L-2-hydroxyglutaric aciduria']"
Fanconi-Bickel syndrome/Fanconi-Bickel syndrome,"['Carious teeth', 'Intellectual disability', 'Tetany', 'Generalized hypotonia', 'Failure to thrive', 'Death in infancy', 'Hepatomegaly', 'Bone pain', 'Hypokalemia', 'Hypercholesterolemia', 'High serum calcitriol', 'Elevated circulating alkaline phosphatase concentration', 'Severe short stature', 'Death in childhood', 'Decreased plasma free carnitine', 'Death in adolescence']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Hydrocephalus', 'Death in infancy', 'Anemia', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Decreased plasma free carnitine']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Abnormal saccadic eye movements', 'Cerebellar atrophy', 'Generalized hypotonia', 'Death in infancy', 'Thromboembolism', 'Neonatal death', 'Lipodystrophy', 'Abnormal skeletal morphology', 'Cerebellar agenesis']"
Tyrosinemia type 2/Tyrosine transaminase deficiency,"['Conjunctivitis', 'Photophobia', 'Hyperkeratosis', 'Intellectual disability', 'Seizure', 'Hypertyrosinemia', 'Death in childhood', 'Epiphora']"
"Mitochondrial complex IV deficiency, nuclear type 1","['Petechiae', 'Seizure', 'Lethargy', 'Generalized hypotonia', 'Reduced tendon reflexes', 'Death in infancy', 'Increased serum lactate', 'Drowsiness', 'Sleep disturbance', 'Glutaric aciduria', 'Skeletal muscle atrophy', 'Ethylmalonic aciduria', 'Cytochrome C oxidase-negative muscle fibers', 'Aplasia/Hypoplasia involving the musculature of the extremities']"
Glutathione synthetase deficiency,"['Low-set ears', 'Nystagmus', 'Spasticity', 'Death in infancy', 'Dyspnea', 'Fair hair', 'High, narrow palate', 'Increased total bilirubin', 'Neonatal death', 'Stridor', 'White hair', 'Feeding difficulties', 'Fatigue']"
精氨酸酶缺乏症/Arginase deficiency/Argininemia/Argininemia,"['Cystinuria', 'Argininuria', 'Abnormal circulating arginine concentration', 'Abnormal circulating citrulline concentration', 'Uraciluria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Cerebellar atrophy', 'Death in childhood', 'Cerebellar agenesis']"
"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","['Lethargy', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Drowsiness', 'Sleep disturbance', 'Hyperglutaminemia', 'Oroticaciduria', 'Abnormal circulating ornithine concentration']"
Canavan disease/Canavan disease,"['Strabismus', 'Irritability', 'Hyporeflexia', 'Death in infancy', 'Hyperammonemia', 'Opisthotonus', 'Athetosis', 'Abnormal circulating aspartate family amino acid concentration']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Generalized hypotonia', 'Reduced tendon reflexes', 'Death in infancy', 'Fever', 'Vomiting', 'Diarrhea', 'Glutaric aciduria']"
"Citrullinemia type I/Citrullinemia, classic","['Hyperactivity', 'Intellectual disability', 'Obesity', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Ichthyosis', 'Death in adolescence', 'Elevated plasma citrulline']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Hyperphenylalaninemia']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Death in infancy', 'Death in childhood', 'Hyperphenylalaninemia']"
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', 'Elevated urinary carboxylic acid']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Seizure', 'Coma', 'Fever', 'Vomiting', 'Tachypnea', 'Death in childhood', 'Hypervalinemia', 'Hyperisoleucinemia', 'Feeding difficulties']"
3-Methylcrotonyl-CoA carboxylase 1 deficiency,"['Hydrocephalus', 'Seizure', 'Ataxia', 'Generalized hypotonia', 'Death in infancy', 'Aminoaciduria', 'Neonatal death', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']"
Alkaptonuria/Alkaptonuria,"['Spastic diplegia', 'Death in infancy', 'Spastic tetraplegia', 'Dark urine']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Cryptorchidism', 'Delayed speech and language development', 'Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Abnormal erythrocyte morphology', 'Leukopenia', 'Metabolic acidosis', 'Hypoglycemia', 'Hyperammonemia', 'Abnormal basal ganglia morphology', 'Hyperuricemia', 'Hyperglycinemia', 'Hepatomegaly', 'Difficulty walking', 'Methylmalonic acidemia', 'Hypoproteinemia', 'Increased blood urea nitrogen', 'Severe short stature', 'Difficulty climbing stairs', 'Neonatal death', 'Death in childhood', 'Periventricular cysts', 'Difficulty running', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Methylmalonic aciduria', 'Abnormal myelination']"
"Citrullinemia type I/Citrullinemia, classic","['Death in infancy', 'Premature birth', 'Hyperammonemia', 'Neonatal death', 'Elevated plasma citrulline']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Strabismus', 'Myopia', 'Delayed speech and language development', 'Ectopia lentis', 'Motor delay', 'Encephalopathy', 'Joint dislocation', 'Joint hypermobility', 'Hyperhomocystinemia', 'Cerebral edema', 'Clumsiness', 'Poor coordination', 'Hypermethioninemia', 'Aminoaciduria', 'Death in childhood', 'Death in adolescence']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Abnormality of prenatal development or birth', 'Intellectual disability', 'Death in infancy', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence']"
"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","['Lethargy', 'Death in infancy', 'Weight loss', 'Dehydration', 'Hyperammonemia', 'Pneumonia', 'Dyspnea', 'Opisthotonus', 'Cerebral edema', 'Drowsiness', 'Sleep disturbance', 'Tachypnea', 'Hyperglutaminemia', 'Oroticaciduria', 'Hyperalaninemia', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Abnormal circulating pyrimidine concentration', 'Gastrointestinal inflammation', 'Recurrent viral infections', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating proline concentration', 'Abnormal circulating arginine concentration', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Uraciluria', 'Elevated urinary carboxylic acid']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Seizure', 'Death in infancy', 'Opisthotonus', 'Glutaric aciduria', 'Elevated circulating glutaric acid concentration', 'Neonatal death']"
"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', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating carnitine concentration', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Apathy', 'Cyanosis', 'Ataxia', 'Hyperreflexia', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Vomiting', 'Hypothermia', 'Hyperglycinemia', 'Methylmalonic acidemia', 'Decreased methylmalonyl-CoA mutase activity', 'Hyperalaninemia', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating arginine concentration', 'Hypervalinemia', 'Abnormal circulating carnitine concentration', 'Elevated plasma citrulline', 'Hyperornithinemia', 'Methylmalonic aciduria', 'Decreased circulating ferritin concentration', 'Dyskinesia']"
Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency,"['Macular degeneration', 'Delayed speech and language development', 'Intellectual disability', 'Seizure', 'Lethargy', 'Spasticity', 'Dystonia', 'Hyperreflexia', 'Growth delay', 'Death in infancy', 'Fever', 'Leukocytosis', 'Cerebral atrophy', 'Drowsiness', 'Sleep disturbance', 'Abnormal cerebral white matter morphology', 'Abnormality of limb bone morphology', 'Death in childhood', 'Abnormal circulating pyrimidine concentration', 'Paraplegia/paraparesis', 'Uraciluria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hearing impairment', 'Delayed speech and language development', 'Obesity', 'Death in infancy', 'Fever', 'Hypertyrosinemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']"
Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency,"['Blindness', 'Osteoporosis', 'Ectopia lentis', 'Cardiomyopathy', 'Coronary artery atherosclerosis', 'Abnormal foot morphology', 'Pneumonia', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Hyperalaninemia', 'Abnormal vertebral morphology', 'Death in adolescence', 'Death in early adulthood']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Generalized hypotonia', 'Death in infancy', 'Neonatal death', 'Methylmalonic aciduria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Microcephaly', 'Anteverted nares', 'Strabismus', 'Abnormality of the ear', 'Syndactyly', 'Ataxia', 'Coma', 'Motor delay', 'Death in infancy', 'Hypoglycemia', 'Hypocholesterolemia', 'Elevated 8-dehydrocholesterol', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Elevated 7-dehydrocholesterol']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Macrocephaly', 'Ataxia', 'Death in infancy', 'Dicarboxylic aciduria', 'Elevated circulating glutaric acid concentration', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormality of movement']"
"Maturity-onset diabetes of the young, type 1","['Diabetes mellitus', 'Constipation', 'Impaired glucose tolerance']"
"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","['Eczematoid dermatitis', 'Skin rash', 'Abnormality of prenatal development or birth', 'Death in infancy', 'Elevated hepatic transaminase', 'Neonatal death', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Abnormal circulating carnitine concentration', 'Decreased 3-hydroxyacyl-CoA dehydrogenase level']"
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency/Glycogen storage disease type IXb,"['Death in infancy', 'Ventricular septal defect', 'Cardiomyopathy', 'Leukocytosis', 'Vomiting', 'Respiratory distress', 'Hypoproteinemia', 'Abnormal circulating porphyrin concentration', 'Abnormal circulating aspartate family amino acid concentration', 'Feeding difficulties', 'Increased circulating lactate dehydrogenase concentration']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Death in childhood', 'Hyperphenylalaninemia']"
"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']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Spasticity', 'Death in infancy', 'Tachypnea', 'Decreased plasma free carnitine', 'Methylmalonic aciduria', 'Elevated urinary carboxylic acid', 'Elevated circulating acylcarnitine concentration']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Intellectual disability', 'Seizure', 'Motor delay', 'Cerebellar atrophy', 'Obesity', 'Death in infancy', 'Cerebellar agenesis']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Death in infancy', 'Increased serum lactate', 'Opisthotonus', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Feeding difficulties', 'Severe hearing impairment']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hip dysplasia', 'Death in infancy', 'Premature birth', 'Hypertyrosinemia', 'Severe short stature', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']"
Dihydropyrimidinuria,"['Delayed speech and language development', 'Hyporeflexia', 'Generalized hypotonia', 'Death in childhood', 'Abnormal circulating pyrimidine concentration', 'Uraciluria']"
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,"['Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Cardiomyopathy', 'Hypoglycemia', 'Hepatomegaly', 'Drowsiness', 'Sleep disturbance', 'Myopathy', 'Decreased plasma free carnitine', 'Abnormal circulating acetylcarnitine concentration']"
糖原累积病Ib型/Glycogen storage disease Ib/Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib/Glycogen storage disease Ib,"['Obesity', 'Death in infancy', 'Neutropenia', 'Hyperuricemia', 'Increased serum lactate', 'Hepatomegaly', 'Neonatal death', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating aspartate family amino acid concentration', 'Abnormal circulating alanine concentration', 'Pustule']"
戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I,"['Abnormal saccadic eye movements', 'Cyanosis', 'Seizure', 'Death in infancy', 'Vomiting', 'Abnormal cerebral morphology', 'Dyspnea', 'Glutaric aciduria', 'Feeding difficulties']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Abnormality of the kidney', 'Hypertension', 'Seizure', 'Coma', 'Death in infancy', 'Cardiomyopathy', 'Thrombocytopenia', 'Leukopenia', 'Anemia', 'Leukocytosis', 'Hyperammonemia', 'Vomiting', 'Hyperuricemia', 'Increased serum lactate', 'Hyperproteinemia', 'Hyperkalemia', 'Hyperglycinemia', 'Hypertriglyceridemia', 'Skeletal dysplasia', 'Tachypnea', 'Methylmalonic acidemia', 'Hypoproteinemia', 'Hypercholesterolemia', 'Increased blood urea nitrogen', 'Elevated circulating alkaline phosphatase concentration', 'Elevated circulating parathyroid hormone level', 'Decreased methylmalonyl-CoA mutase activity', 'Hypernatremia', 'Hypermethioninemia', 'Elevated circulating creatinine concentration', 'Hyperalaninemia', 'Severe short stature', 'Neonatal death', 'Death in childhood', 'Elevated systolic blood pressure', 'Elevated diastolic blood pressure', 'Abnormal circulating porphyrin concentration', 'Hyperhistidinemia', 'Hypervalinemia', 'Abnormal circulating carnitine concentration', 'Death in adolescence', 'Elevated plasma citrulline', 'Feeding difficulties', 'Hyperornithinemia', 'Methylmalonic aciduria', 'Death in early adulthood']"
Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome,"['Ptosis', 'Delayed speech and language development', 'Syndactyly', 'Intellectual disability', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Abnormal foot morphology', 'High, narrow palate', 'Elevated 8-dehydrocholesterol', 'Death in childhood', 'Elevated 7-dehydrocholesterol', 'Death in adolescence']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Kernicterus', 'Obesity', 'Death in infancy', 'Fever', 'Hypertyrosinemia', 'Neonatal death', 'Recurrent viral infections', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid']"
"Mitochondrial complex IV deficiency, nuclear type 1","['Seizure', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Dicarboxylic aciduria']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Metabolic acidosis', 'Decreased methylmalonyl-CoA mutase activity', 'Death in childhood']"
"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', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine']"
"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","['Lethargy', 'Death in infancy', 'Hyperammonemia', 'Vomiting', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Death in infancy', 'Increased susceptibility to fractures', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Abnormal circulating tyrosine concentration', 'Death in adolescence', 'Death in early adulthood']"
Classic galactosemia/GALACTOSEMIA,"['Atypical behavior', 'Delayed speech and language development', 'Hyperactivity', 'Intellectual disability', 'Death in infancy', 'Death in childhood', 'Abnormality of galactoside metabolism']"
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']"
"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', 'Decreased plasma free carnitine']"
β-酮硫解酶缺乏症/β-ketothiolase deficiency; BKD; Mitochondrial acetoacetyl-CoA thiolase [3-oxothiolase] deficiency/Beta-ketothiolase deficiency/Alpha-Methylacetoacetic aciduria,"['Coma', 'Death in infancy', 'Metabolic acidosis', 'Hypoglycemia', 'Fever', 'Vomiting', 'Diarrhea', 'Increased serum lactate', 'Ketonuria', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid', 'Pustule']"
"生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset","['Seborrheic dermatitis', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Metabolic acidosis', 'Increased serum lactate', 'Elevated urinary carboxylic acid']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']"
枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease,"['Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Hyperammonemia', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Feeding difficulties', 'Body odor']"
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type),"['Ptosis', 'Progressive visual loss', 'Ophthalmoplegia', 'Reduced tendon reflexes', 'Ragged-red muscle fibers', 'Generalized muscle weakness', 'Generalized amyotrophy', 'Acute hepatitis', 'Chronic hepatitis']"
Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency,"['Metabolic acidosis', 'Vomiting', 'Death in childhood', 'Methylmalonic aciduria']"
苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria,"['Alopecia', 'Vomiting', 'Diarrhea', 'Hyperphenylalaninemia', 'Death in early adulthood']"
Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency,"['Seizure', 'Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Pneumonia', 'Hepatomegaly', 'Decreased plasma free carnitine', 'Elevated urinary carboxylic acid']"
"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', 'Gastrointestinal inflammation', 'Decreased plasma free carnitine']"
"PMM2-CDG/Congenital disorder of glycosylation, type Ia","['Strabismus', 'Nystagmus', 'Intellectual disability', 'Ataxia', 'Hyporeflexia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Encephalopathy', 'Growth delay', 'Death in infancy', 'Cerebellar agenesis']"