| C0002064 |
BXGD000100 |
Alkalosis, Respiratory |
Nutritional and Metabolic Diseases; Respiratory Tract Diseases |
| C0005779 |
BXGD000336 |
Blood Coagulation Disorders |
Hemic and Lymphatic Diseases |
| C0009024 |
BXGD000578 |
Clonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009421 |
BXGD000608 |
Comatose |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009676 |
BXGD000619 |
Confusion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0019158 |
BXGD001293 |
Hepatitis |
Digestive System Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0026499 |
BXGD001905 |
Monosomy |
Pathological Conditions, Signs and Symptoms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0037771 |
BXGD002702 |
Paraparesis, Spastic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037772 |
BXGD002703 |
Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038525 |
BXGD002768 |
Subarachnoid Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0151891 |
BXGD003499 |
Retinal depigmentation |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases |
| C0154246 |
BXGD003709 |
Urea Cycle Disorders, Inborn |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0220994 |
BXGD004357 |
Hyperammonemia |
Pathological Conditions, Signs and Symptoms |
| C0231687 |
BXGD004509 |
Spastic gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0231835 |
BXGD004527 |
Tachypnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0232744 |
BXGD004561 |
Decreased liver function |
|
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0264611 |
BXGD005403 |
Apraxia of Phonation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0267797 |
BXGD005777 |
Acute hepatitis |
Digestive System Diseases |
| C0268128 |
BXGD005828 |
Orotic aciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0268540 |
BXGD005976 |
HHH syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268542 |
BXGD005977 |
Ornithine carbamoyltransferase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0424230 |
BXGD008522 |
Motor retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0563243 |
BXGD009479 |
Poor coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0599035 |
BXGD009675 |
Hyperornithinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1295585 |
BXGD012241 |
Decreased vibratory sense |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1306587 |
BXGD012368 |
Acute encephalopathy |
Nervous System Diseases |
| C1739135 |
BXGD013733 |
Progression of prostate cancer |
|
| C1833434 |
BXGD013925 |
Multifocal cerebral white matter abnormalities |
Pathological Conditions, Signs and Symptoms |
| C1838993 |
BXGD014351 |
Episodic vomiting |
Pathological Conditions, Signs and Symptoms |
| C1839531 |
BXGD014381 |
Protein avoidance |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1857640 |
BXGD015726 |
Decreased nerve conduction velocity |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021761 |
BXGD020763 |
Morphological abnormality of the pyramidal tract |
|
| C4022483 |
BXGD020904 |
Chorioretinal hypopigmentation |
|
| C4022738 |
BXGD020974 |
Neurodevelopmental delay |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4048273 |
BXGD021898 |
Chorioretinal atrophy |
Eye Diseases |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|