RareDisease
stringclasses 74
values | Phenotype
stringlengths 46
1.23k
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Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
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['Death in infancy', 'Metabolic acidosis', 'Decreased methylmalonyl-CoA mutase activity', 'Death in childhood']
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Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency
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['Motor delay', 'Generalized hypotonia', 'Death in infancy', 'Pneumonia', 'Elevated urinary carboxylic acid']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']
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PMM2-CDG/Congenital disorder of glycosylation, type Ia
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['Congenital diaphragmatic hernia', 'Motor delay', 'Cerebellar atrophy', 'Failure to thrive', 'Death in infancy', 'Hiatus hernia', 'Lipodystrophy', 'Abnormal muscle physiology', 'Cerebellar agenesis']
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枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease
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['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']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['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']
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生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset
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['Eczematoid dermatitis', 'Skin rash', 'Death in infancy', 'Alopecia', 'Increased serum lactate', 'Increased CSF lactate']
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PMM2-CDG/Congenital disorder of glycosylation, type Ia
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['Rod-cone dystrophy', 'Intellectual disability', 'Cerebellar atrophy', 'Death in infancy', 'Thromboembolism', 'Abnormal facial shape', 'Abnormal calvaria morphology', 'Lipodystrophy', 'Cerebellar agenesis', 'Acute hepatitis', 'Chronic hepatitis']
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戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I
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['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']
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异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia
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['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']
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PMM2-CDG/Congenital disorder of glycosylation, type Ia
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['Microcephaly', 'Strabismus', 'Nystagmus', 'Intellectual disability', 'Ataxia', 'Hyporeflexia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Encephalopathy', 'Growth delay', 'Death in infancy', 'Cerebellar agenesis']
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Methylmalonic acidemia with homocystinuria, type cblC/Methylmalonic aciduria and homocystinuria, Cblc type
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['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']
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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
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['Death in infancy', 'Hypoglycemia', 'Vomiting', 'Diarrhea', 'Elevated hepatic transaminase', 'Abnormal circulating carnitine concentration']
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Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency
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['Coma', 'Death in infancy', 'Hyperkalemia', 'Hyponatremia', 'Neonatal death', 'Respiratory acidosis', 'Elevated urinary carboxylic acid']
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Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency
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['Ptosis', 'Ectopia lentis', 'Large hands', 'Intellectual disability', 'Motor delay', 'Long foot', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Death in childhood', 'Death in adolescence', 'Fatigue']
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Hyperinsulinemic hypoglycemia, familial, 2
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['Wide mouth', 'Epicanthus', 'Carious teeth', 'Hyperinsulinemia', 'Sparse hair', 'Seizure', 'Death in infancy', 'Hypoglycemia', 'Neonatal death', 'Death in childhood', 'Abnormal hemoglobin', 'Feeding difficulties']
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丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia
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['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']
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Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
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['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']
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原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary
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['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']
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3-Methylcrotonyl-CoA carboxylase 1 deficiency
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['Lethargy', 'Death in infancy', 'Clumsiness', 'Drowsiness', 'Sleep disturbance', 'Poor coordination', 'Neonatal death', 'Death in childhood', 'Decreased plasma free carnitine', 'Feeding difficulties']
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Mitochondrial complex IV deficiency, nuclear type 1
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['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']
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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
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Abnormal circulating carnitine concentration']
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戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I
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['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']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence']
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L-2-hydroxyglutaric aciduria/L-2-hydroxyglutaric aciduria
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['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']
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枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease
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['Apathy', 'Spasticity', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Hypoglycemia', 'Neonatal death', 'Hypervalinemia', 'Hyperleucinemia', 'Hyperisoleucinemia', 'Death in early adulthood']
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Classic galactosemia/GALACTOSEMIA
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['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']
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3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
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['Death in infancy', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Vomiting', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Abnormal circulating glycine concentration', 'Elevated urinary carboxylic acid']
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Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency
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['Jaundice', 'Generalized hypotonia', 'Anemia', 'Hyperhomocystinemia', 'Progressive neurologic deterioration', 'Hypomethioninemia', 'Death in childhood', 'Recurrent viral infections', 'Abnormal circulating porphyrin concentration', 'Abnormality of folate metabolism']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['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']
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生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset
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['Apathy', 'Seizure', 'Spasticity', 'Death in infancy', 'Alopecia', 'Dyspnea', 'Fatigue', 'Elevated urinary carboxylic acid']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Obesity', 'Death in infancy', 'Fever', 'Vomiting', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Gastrointestinal inflammation', 'Hyperphenylalaninemia', 'Death in adolescence']
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生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset
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['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']
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Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
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['Death in infancy', 'Dehydration', 'Decreased methylmalonyl-CoA mutase activity', 'Neonatal death', 'Feeding difficulties']
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生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset
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['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']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']
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3-hydroxy-3-methylglutaric aciduria/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
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['Death in infancy', 'Dicarboxylic aciduria', '3-Methylglutaric aciduria', 'Elevated urinary carboxylic acid']
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肝豆状核变性; 威尔逊氏病/Hepatolenticular degeneration; Wilson disease/Wilson disease/Wilson disease
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['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']
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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
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Abnormal circulating carnitine concentration']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Death in infancy', 'Hypertyrosinemia', 'Death in childhood', 'Recurrent viral infections', 'Hyperphenylalaninemia']
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3-Methylcrotonyl-CoA carboxylase 1 deficiency
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['Aminoaciduria', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid']
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Carbamoyl-phosphate synthetase 1 deficiency/Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to
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['Generalized hypotonia', 'Death in infancy', 'Hepatomegaly', 'Tachypnea', '3-Methylglutaconic aciduria', 'Neonatal death', 'Feeding difficulties']
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Citrullinemia type I/Citrullinemia, classic
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['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']
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戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I
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['Macrocephaly', 'Abnormality of visual evoked potentials', 'Irritability', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Athetosis', 'Glutaric aciduria', 'Neonatal death']
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酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I
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['Delayed speech and language development', '4-Hydroxyphenylpyruvic aciduria', 'Elevated urinary delta-aminolevulinic acid', 'Hypertyrosinemia', 'Death in childhood', 'Abnormal circulating phenylalanine concentration']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Abnormality of prenatal development or birth', 'Obesity', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Elevated urinary carboxylic acid']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Hyperactivity', 'Intellectual disability', 'Seizure', 'Obesity', 'Hypertyrosinemia', 'Severe short stature', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid', 'Death in early adulthood']
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Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
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['Seizure', 'Generalized hypotonia', 'Death in infancy', 'Thrombocytopenia', 'Leukopenia', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Methylmalonic acidemia', 'Neonatal death', 'Methylmalonic aciduria']
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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
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Abnormal circulating carnitine concentration']
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Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
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['Death in infancy', 'Metabolic acidosis', 'Hyperammonemia', 'Vomiting', 'Methylmalonic aciduria']
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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
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['Seizure', 'Death in infancy', 'Hyperammonemia', 'Cerebral edema', 'Oroticaciduria', 'Neonatal death']
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生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset
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['Seizure', 'Generalized hypotonia', 'Growth delay', 'Death in infancy', 'Alopecia', 'Fasciculations', 'Elevated urinary carboxylic acid']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Obesity', 'Hypercholesterolemia', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Hypospadias', 'Death in infancy', 'Premature birth', 'Hypertyrosinemia', 'Severe short stature', 'Neonatal death', 'Hyperphenylalaninemia', 'Hernia']
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Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome
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['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']
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戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I
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['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']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Abnormality of prenatal development or birth', 'Motor delay', 'Generalized hypotonia', 'Hip dysplasia', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Retrognathia', 'Abnormality of prenatal development or birth', 'Seizure', 'Generalized hypotonia', 'Death in infancy', 'Apnea', 'Opisthotonus', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia']
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酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I
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['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']
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Classic galactosemia/GALACTOSEMIA
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['Death in infancy', 'Vomiting', 'Increased total bilirubin', 'Neonatal death', 'Hypergalactosemia']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia', 'Abnormal circulating tyrosine concentration']
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生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset
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['Obesity', 'Death in childhood', 'Abnormal circulating carnitine concentration', 'Death in adolescence']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Abnormality of prenatal development or birth', 'Intellectual disability', 'Death in infancy', 'Hypertyrosinemia', 'Neonatal death', 'Hyperphenylalaninemia', 'Death in adolescence']
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Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome
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['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']
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Canavan disease/Canavan disease
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['Strabismus', 'Hyporeflexia', 'Generalized hypotonia', 'Obesity', 'Death in infancy', 'Fever', 'Cerebral atrophy', 'Abnormal circulating aspartate family amino acid concentration']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Obesity', 'Death in infancy', 'Coarctation of aorta', 'Fever', 'Pneumonia', 'Hypertyrosinemia', 'Neonatal death', 'Death in childhood', 'Hyperphenylalaninemia', 'Death in adolescence', 'Death in early adulthood']
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Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Aminoaciduria', 'Neonatal death', 'Death in childhood']
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Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency
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['Ataxia', 'Generalized hypotonia', 'Death in childhood', 'Abnormal circulating pyrimidine concentration', 'Uraciluria']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in early adulthood']
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Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency
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['Death in infancy', 'Respiratory insufficiency', 'Neonatal death', 'Abnormal circulating pyrimidine concentration', 'Uraciluria']
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酪氨酸血症I型/Tyrosinemia I; hepatorenal hyrosinemia; HT-1/Tyrosinemia type 1/Tyrosinemia, type I
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['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']
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Canavan disease/Canavan disease
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['Seizure', 'Motor delay', 'Death in infancy', 'Abnormal circulating aspartate family amino acid concentration']
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异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia
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['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']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Hypertension', 'Intellectual disability', 'Obesity', 'Hypertyrosinemia', 'Hyperphenylalaninemia', 'Death in adolescence', 'Elevated urinary carboxylic acid', 'Death in early adulthood']
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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
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['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']
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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
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['Lethargy', 'Death in infancy', 'Drowsiness', 'Sleep disturbance', 'Oroticaciduria', 'Abnormal circulating ornithine concentration']
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戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I
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['Ataxia', 'Dystonia', 'Abnormal cerebral morphology', 'Glutaric aciduria', 'Death in childhood', 'Decreased plasma free carnitine', 'Abnormal myelination']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['Death in infancy', 'Neonatal death', 'Hyperphenylalaninemia']
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原发性肉碱缺乏症/Primary carnitine deficiency; PCD/Systemic primary carnitine deficiency/Carnitine deficiency, systemic primary
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['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']
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PMM2-CDG/Congenital disorder of glycosylation, type Ia
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['Strabismus', 'Nystagmus', 'Ataxia', 'Hyporeflexia', 'Motor delay', 'Cerebellar atrophy', 'Generalized hypotonia', 'Encephalopathy', 'Growth delay', 'Death in infancy', 'Cerebellar agenesis']
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Classic homocystinuria/Homocystinuria due to cystathionine beta-synthase deficiency
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['Myopia', 'Delayed speech and language development', 'Ectopia lentis', 'Intellectual disability', 'Death in infancy', 'Hyperhomocystinemia', 'Hypermethioninemia', 'Aminoaciduria', 'Death in childhood', 'Abnormal circulating alanine concentration', 'Dyskinesia']
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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
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['Seizure', 'Ataxia', 'Lethargy', 'Hyperreflexia', 'Metabolic acidosis', 'Fever', 'Hyperammonemia', 'Diarrhea', 'Drowsiness', 'Sleep disturbance', 'Fasciculations', 'Oroticaciduria', 'Death in childhood', 'Death in adolescence']
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Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome
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['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']
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Glycogen storage disease due to glycogen debranching enzyme deficiency/Glycogen storage disease III
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['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']
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戊二酸血症 I 型/Glutaric acidemia type I; GA-I/Glutaryl-CoA dehydrogenase deficiency/Glutaric acidemia I
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['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']
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丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia
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['Death in infancy', 'Hyperammonemia', 'Vomiting', 'Hyperglycinemia', 'Hyperglycinuria', 'Hyperalaninemia', 'Death in childhood', 'Ichthyosis', 'Abnormal circulating glutamine concentration', 'Abnormal circulating carnitine concentration', 'Elevated urinary carboxylic acid']
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Succinic semialdehyde dehydrogenase deficiency/Succinic semialdehyde dehydrogenase deficiency
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['Intellectual disability', 'Motor delay', 'Abnormal facial shape', 'Abnormal calvaria morphology', 'Death in childhood', 'Abnormal circulating monocarboxylic acid concentration', 'Elevated urinary carboxylic acid']
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Classic galactosemia/GALACTOSEMIA
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['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']
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Neonatal intrahepatic cholestasis due to citrin deficiency/Citrullinemia, type II, neonatal-onset
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperammonemia', 'Aminoaciduria', 'Neonatal death', 'Death in childhood', 'Abnormal circulating proline concentration', 'Elevated plasma citrulline']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['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']
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枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease
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['Lethargy', 'Generalized hypotonia', 'Tremor', 'Death in infancy', 'Opisthotonus', 'Drowsiness', 'Sleep disturbance', 'Neonatal death', 'Abnormal circulating leucine concentration', 'Elevated urinary carboxylic acid', 'Body odor']
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苯丙酮尿症/Phenylketonuria; PKU;/Phenylketonuria/Phenylketonuria
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['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']
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Smith-Lemli-Opitz syndrome/Smith-Lemli-Opitz syndrome
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['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']
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Vitamin B12-unresponsive methylmalonic acidemia/Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
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['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']
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Dihydropyrimidine dehydrogenase deficiency/Dihydropyrimidine dehydrogenase deficiency
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['Ataxia', 'Lethargy', 'Generalized hypotonia', 'Death in infancy', 'Drowsiness', 'Sleep disturbance', 'Abnormal circulating pyrimidine concentration', 'Uraciluria']
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异戊酸血症/Isovaleric acedemia; IVA/Isovaleric acidemia/Isovaleric acidemia
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['Abnormality of prenatal development or birth', 'Death in infancy', 'Hyperammonemia', 'Neonatal death', 'Death in childhood', 'Abnormal circulating glycine concentration', 'Abnormal circulating carnitine concentration']
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生物素酶缺乏症/Biotinidase deficiency; BTDD/Biotinidase deficiency/Biotinidase deficiencymultiple carboxylase deficiency, late-onset
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['Seizure', 'Generalized hypotonia', 'Death in infancy', 'Elevated urinary carboxylic acid']
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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
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['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']
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枫糖尿症/Maple syrup urine disease; MSUD/Maple syrup urine disease/Maple syrup urine disease
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['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']
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丙酸血症/Propionic acidemia; PA/Propionic acidemia/Propionic acidemia
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['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']
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