| C0000833 |
BXGD000014 |
Abscess |
Pathological Conditions, Signs and Symptoms; Infections |
| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006111 |
BXGD000369 |
Brain Diseases |
Nervous System Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017979 |
BXGD001159 |
Glycosuria |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018799 |
BXGD001224 |
Heart Diseases |
Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023886 |
BXGD001712 |
Liver Abscess, Amebic |
Digestive System Diseases; Infections |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026896 |
BXGD001946 |
Myasthenia Gravis |
Neoplasms; Immune System Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0030499 |
BXGD002232 |
Parasitic Diseases |
Infections |
| C0033247 |
BXGD002402 |
Proctocolitis |
Digestive System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0086565 |
BXGD003295 |
Liver Dysfunction |
Digestive System Diseases |
| C0151747 |
BXGD003471 |
Renal tubular disorder |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0162557 |
BXGD003956 |
Liver Failure, Acute |
Digestive System Diseases |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0232744 |
BXGD004561 |
Decreased liver function |
|
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0268070 |
BXGD005808 |
Hypocupremia |
|
| C0268237 |
BXGD005861 |
Cytochrome-c Oxidase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270975 |
BXGD006148 |
Infantile encephalopathy AND lactic acidosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0282201 |
BXGD006799 |
Phosphate Diabetes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0341703 |
BXGD007419 |
Adult Fanconi syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0398703 |
BXGD008219 |
Immunoglobulin G3 deficiency |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0398704 |
BXGD008220 |
Immunoglobulin G4 deficiency |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0424551 |
BXGD008533 |
Impaired exercise tolerance |
|
| C0427055 |
BXGD008601 |
Facial Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0747256 |
BXGD010168 |
Parasitic infection |
Pathological Conditions, Signs and Symptoms; Infections |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0949855 |
BXGD011587 |
Electron Transport Chain Deficiencies, Mitochondrial |
Nutritional and Metabolic Diseases |
| C0949856 |
BXGD011588 |
Oxidative Phosphorylation Deficiencies |
Nutritional and Metabolic Diseases |
| C0949857 |
BXGD011589 |
Mitochondrial Respiratory Chain Deficiencies |
Nutritional and Metabolic Diseases |
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858424 |
BXGD015790 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C4020730 |
BXGD020473 |
Increased intramyocellular lipid droplets |
|
| C4021724 |
BXGD020734 |
Cytochrome C oxidase-negative muscle fibers |
|
| C4025021 |
BXGD021528 |
Increased hepatocellular lipid droplets |
|
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |