| C0001122 |
BXGD000023 |
Acidosis |
Nutritional and Metabolic Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0017639 |
BXGD001133 |
Gliosis |
Pathological Conditions, Signs and Symptoms |
| C0017979 |
BXGD001159 |
Glycosuria |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020617 |
BXGD001446 |
Hypoglycemic coma |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0022346 |
BXGD001537 |
Icterus |
Pathological Conditions, Signs and Symptoms |
| C0022680 |
BXGD001576 |
Polycystic Kidney Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027497 |
BXGD001993 |
Nausea |
Pathological Conditions, Signs and Symptoms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0268238 |
BXGD005862 |
Triglyceride storage disease with ichthyosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0268594 |
BXGD005998 |
Glutaric aciduria |
|
| C0268596 |
BXGD006000 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0342788 |
BXGD007552 |
Renal carnitine transport defect |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0342790 |
BXGD007553 |
Carnitine palmitoyl transferase 2 deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0369183 |
BXGD007960 |
Erythrocyte Mean Corpuscular Hemoglobin Test |
|
| C0410214 |
BXGD008420 |
Myopathy with Abnormal Lipid Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0410916 |
BXGD008452 |
Neonatal Death |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0476237 |
BXGD008983 |
Metabolic symptoms |
|
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0546389 |
BXGD009336 |
Hepatic periportal necrosis |
|
| C0744356 |
BXGD010094 |
Abnormality of the genital system |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C1261502 |
BXGD011856 |
Finding of Mean Corpuscular Hemoglobin |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1839603 |
BXGD014388 |
Proximal tubulopathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1843920 |
BXGD014619 |
COENZYME Q10 DEFICIENCY |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1847868 |
BXGD014893 |
Generalized aminoaciduria |
|
| C1853136 |
BXGD015305 |
Neutral Lipid Storage Disease with Myopathy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1856401 |
BXGD015600 |
Glutaric Aciduria IIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1856403 |
BXGD015601 |
Glutaric Aciduria IIB |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1856405 |
BXGD015602 |
Glutaric Aciduria IIC |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1859308 |
BXGD015871 |
PREMATURE CENTROMERE DIVISION |
|
| C1865353 |
BXGD016318 |
Ethylmalonic aciduria |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1969144 |
BXGD016760 |
Renal cortical cysts |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3278156 |
BXGD018731 |
GLUTARIC ACIDEMIA IIC |
|
| C4016438 |
BXGD020334 |
GLUTARIC ACIDEMIA IIC, LATE-ONSET |
|
| C4025586 |
BXGD021679 |
Electron transfer flavoprotein-ubiquinone oxidoreductase defect |
|
| C4025603 |
BXGD021689 |
Glutaric acidemia |
Nutritional and Metabolic Diseases |
| C4551720 |
BXGD023400 |
Primary Ciliary Dyskinesia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |