| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0002514 |
BXGD000118 |
Amino Acid Metabolism, Inborn Errors |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004930 |
BXGD000294 |
Behavior Disorders |
Mental Disorders |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007398 |
BXGD000465 |
Catatonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0012236 |
BXGD000772 |
DiGeorge Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0020617 |
BXGD001446 |
Hypoglycemic coma |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024591 |
BXGD001789 |
Malignant hyperpyrexia due to anesthesia |
Pathological Conditions, Signs and Symptoms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027854 |
BXGD002050 |
Neurologic Manifestations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0036337 |
BXGD002598 |
Schizoaffective Disorder |
Mental Disorders |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0201874 |
BXGD004054 |
Amino acids measurement |
|
| C0202174 |
BXGD004078 |
blood phenylalanine measurement by Guthrie microbiologic assay |
|
| C0220620 |
BXGD004299 |
Gastrointestinal Carcinoid Tumor |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0220704 |
BXGD004327 |
Shprintzen syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0268528 |
BXGD005972 |
Hyperprolinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268529 |
BXGD005973 |
Proline dehydrogenase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268534 |
BXGD005975 |
Prolinuria |
|
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0337446 |
BXGD007163 |
Tyrosine measurement |
|
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0398626 |
BXGD008204 |
Heparin cofactor II deficiency (disorder) |
Cardiovascular Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0428209 |
BXGD008621 |
Leucine measurement |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0523459 |
BXGD009208 |
Alanine measurement |
|
| C0523852 |
BXGD009222 |
Proline measurement |
|
| C0523920 |
BXGD009225 |
Threonine measurement |
|
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0543541 |
BXGD009285 |
HYPERGLYCINURIA (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0543918 |
BXGD009302 |
SCHIZOPHRENIA 10 |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0740457 |
BXGD010000 |
Malignant neoplasm of kidney |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0750905 |
BXGD010243 |
Amino Acid Metabolism, Inherited Disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0948585 |
BXGD011541 |
Hydroxyprolinuria |
|
| C1302790 |
BXGD012313 |
Congenital malformation syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1321551 |
BXGD012436 |
Shprintzen-Goldberg syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1378703 |
BXGD012933 |
Renal carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1561643 |
BXGD013363 |
Chronic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1833247 |
BXGD013907 |
SCHIZOPHRENIA 4 (disorder) |
|
| C1855496 |
BXGD015502 |
Contiguous gene syndrome |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2936346 |
BXGD018108 |
22q11 Deletion Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C2986717 |
BXGD018241 |
Anti-N-Methyl-D-Aspartate Receptor Encephalitis |
Neoplasms; Immune System Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4082937 |
BXGD022095 |
Necrotizing enterocolitis in fetus OR newborn |
Digestive System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|