| C0000731 |
BXGD000002 |
Abdomen distended |
Digestive System Diseases |
| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0008370 |
BXGD000534 |
Cholestasis |
Digestive System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014867 |
BXGD000964 |
Esophageal Varices |
Digestive System Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0017495 |
BXGD001111 |
Gerstmann-Straussler-Scheinker Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases |
| C0017919 |
BXGD001150 |
Glycogen Storage Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0017920 |
BXGD001151 |
Glycogen Storage Disease Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020443 |
BXGD001385 |
Hypercholesterolemia |
Nutritional and Metabolic Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0022638 |
BXGD001567 |
Ketosis |
Nutritional and Metabolic Diseases |
| C0029438 |
BXGD002148 |
Massive Osteolyses |
Musculoskeletal Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0206669 |
BXGD004229 |
Hepatocellular Adenoma |
Digestive System Diseases; Neoplasms |
| C0232744 |
BXGD004561 |
Decreased liver function |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0268147 |
BXGD005837 |
Glycogen storage disease, type IX |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0271708 |
BXGD006244 |
Fasting Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0740394 |
BXGD009989 |
Hyperuricemia |
Pathological Conditions, Signs and Symptoms |
| C0877056 |
BXGD011334 |
Hypoglycemic seizures |
Nutritional and Metabolic Diseases |
| C1291390 |
BXGD012212 |
Deficiency of phosphorylase kinase |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2748941 |
BXGD017611 |
Glycogen Storage Disease, Type IXA2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2751643 |
BXGD017731 |
Glycogen Storage Disease IXC |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3694531 |
BXGD019339 |
GLYCOGEN STORAGE DISEASE IXa1 |
|
| C3694532 |
BXGD019340 |
Glycogen storage disease, type IXA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4022586 |
BXGD020927 |
Fatigable weakness of skeletal muscles |
|