| C0002875 |
BXGD000135 |
Cooley's anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0005283 |
BXGD000308 |
beta Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007786 |
BXGD000486 |
Brain Ischemia |
Nervous System Diseases; Cardiovascular Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010709 |
BXGD000689 |
Cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0011991 |
BXGD000766 |
Diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014550 |
BXGD000930 |
Myoclonic Epilepsy |
Nervous System Diseases |
| C0014553 |
BXGD000931 |
Absence Epilepsy |
Nervous System Diseases |
| C0014556 |
BXGD000932 |
Epilepsy, Temporal Lobe |
Nervous System Diseases |
| C0015652 |
BXGD001010 |
Fascioliasis |
Digestive System Diseases; Infections |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017536 |
BXGD001114 |
Giardiasis |
Digestive System Diseases; Infections |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0019151 |
BXGD001290 |
Hepatic Encephalopathy |
Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020501 |
BXGD001409 |
Primary Hyperoxaluria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C0021345 |
BXGD001497 |
Infectious Mononucleosis |
Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0035126 |
BXGD002509 |
Reperfusion Injury |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0220994 |
BXGD004357 |
Hyperammonemia |
Pathological Conditions, Signs and Symptoms |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265354 |
BXGD005529 |
CHARGE Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0268576 |
BXGD005994 |
Hyperleucinemia |
|
| C0270824 |
BXGD006113 |
Visual seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0271710 |
BXGD006245 |
Reactive hypoglycemia |
Nutritional and Metabolic Diseases |
| C0275524 |
BXGD006376 |
Coinfection |
Infections |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0343386 |
BXGD007620 |
Clostridium difficile infection |
Infections |
| C0345905 |
BXGD007746 |
Intrahepatic Cholangiocarcinoma |
Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0474808 |
BXGD008959 |
Follicular neoplasm |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0687720 |
BXGD009844 |
Central Diabetes Insipidus |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0877056 |
BXGD011334 |
Hypoglycemic seizures |
Nutritional and Metabolic Diseases |
| C1257963 |
BXGD011818 |
Endogenous Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C1257964 |
BXGD011819 |
Exogenous Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C1257965 |
BXGD011820 |
Compensatory Hyperinsulinemia |
Nutritional and Metabolic Diseases |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1411966 |
BXGD013047 |
Clostridium; difficile (disorder) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1720983 |
BXGD013698 |
Channelopathies |
Pathological Conditions, Signs and Symptoms |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1846142 |
BXGD014785 |
HOYERAAL-HREIDARSSON SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms |
| C1847555 |
BXGD014875 |
Hyperinsulinemic hypoglycemia, familial, 6 |
Nutritional and Metabolic Diseases |
| C1864903 |
BXGD016270 |
Hyperinsulinemic hypoglycemia |
Nutritional and Metabolic Diseases |
| C1864954 |
BXGD016278 |
Fasting hyperinsulinemia |
Nutritional and Metabolic Diseases |
| C1876187 |
BXGD016565 |
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3805278 |
BXGD019474 |
Extrahepatic Cholangiocarcinoma |
Neoplasms |
| C3888018 |
BXGD019942 |
Congenital Hyperinsulinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases |
| C4021552 |
BXGD020668 |
Asymptomatic hyperammonemia |
Pathological Conditions, Signs and Symptoms |
| C4022915 |
BXGD021036 |
Increased urine alpha-ketoglutarate concentration |
|
| C4023476 |
BXGD021197 |
EEG with generalized epileptiform discharges |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551976 |
BXGD023460 |
HYPOTRICHOSIS 1 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4728082 |
BXGD023886 |
Severe hypoglycaemia |
|