| C0001339 |
BXGD000041 |
Acute pancreatitis |
Digestive System Diseases |
| C0002514 |
BXGD000118 |
Amino Acid Metabolism, Inborn Errors |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0003129 |
BXGD000182 |
Anoxemia |
Pathological Conditions, Signs and Symptoms |
| C0003130 |
BXGD000183 |
Anoxia |
Pathological Conditions, Signs and Symptoms |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| 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 |
| C0008479 |
BXGD000544 |
Chondrosarcoma |
Neoplasms |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019202 |
BXGD001302 |
Hepatolenticular Degeneration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0020305 |
BXGD001374 |
Hydrops Fetalis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023290 |
BXGD001631 |
Leishmaniasis, Visceral |
Infections |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024143 |
BXGD001741 |
Lupus Nephritis |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0033860 |
BXGD002438 |
Psoriasis |
Skin and Connective Tissue Diseases |
| C0035410 |
BXGD002546 |
Rhabdomyolysis |
Musculoskeletal Diseases |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0151872 |
BXGD003493 |
Prothrombin time increased |
Hemic and Lymphatic Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0162871 |
BXGD003996 |
Aortic Aneurysm, Abdominal |
Cardiovascular Diseases |
| C0239981 |
BXGD005011 |
Hypoalbuminemia |
Hemic and Lymphatic Diseases |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242184 |
BXGD005140 |
Hypoxia |
Pathological Conditions, Signs and Symptoms |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0262630 |
BXGD005262 |
Reduced concentration span |
Behavior and Behavior Mechanisms |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0268621 |
BXGD006012 |
Hepatic methionine adenosyltransferase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0272375 |
BXGD006359 |
Antithrombin III Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0349653 |
BXGD007946 |
Congenital disorder of glycosylation type 1A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0398650 |
BXGD008212 |
Immune thrombocytopenic purpura |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0400966 |
BXGD008266 |
Non-alcoholic Fatty Liver Disease |
Digestive System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0553681 |
BXGD009406 |
Hypofibrinogenemia |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598608 |
BXGD009668 |
Hyperhomocysteinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0700292 |
BXGD009884 |
Hypoxemia |
Pathological Conditions, Signs and Symptoms |
| C0740391 |
BXGD009987 |
Middle Cerebral Artery Occlusion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0750905 |
BXGD010243 |
Amino Acid Metabolism, Inherited Disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0751202 |
BXGD010347 |
Cystathionine beta-Synthase Deficiency Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0856169 |
BXGD011096 |
Endothelial dysfunction |
|
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0919677 |
BXGD011435 |
Protein C measurement |
|
| C0936215 |
BXGD011476 |
Vitamin B 6 Deficiency |
Nutritional and Metabolic Diseases |
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1168438 |
BXGD011793 |
Protein C antigen measurement |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1527352 |
BXGD013278 |
Hepatic Form of Wilson Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1846151 |
BXGD014787 |
Widened subarachnoid space |
|
| C1847720 |
BXGD014883 |
Hypermethioninemia due to deficiency of glycine N-methyltransferase |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1848529 |
BXGD014935 |
Hypoplasia of the pons |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2938912 |
BXGD018165 |
Hyperintensity of cerebral white matter on MRI |
Pathological Conditions, Signs and Symptoms |
| C3151058 |
BXGD018379 |
S-adenosylhomocysteine hydrolase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3241937 |
BXGD018578 |
Nonalcoholic Steatohepatitis |
Digestive System Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806347 |
BXGD019506 |
Hyperhomocystinemia |
|
| C4021106 |
BXGD020556 |
Elevated coagulation factor V activity |
|
| C4023722 |
BXGD021253 |
Abnormality of hair texture |
|
| C4024722 |
BXGD021385 |
Reduced factor VII activity |
|
| C4025616 |
BXGD021697 |
CNS hypomyelination |
|
| C4048705 |
BXGD021907 |
Hypermethioninemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4316812 |
BXGD022704 |
Fibrinogen Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C4510276 |
BXGD022983 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4529962 |
BXGD023178 |
Fatty Liver Disease |
|
| C4551463 |
BXGD023300 |
Colon adenoma |
Digestive System Diseases; Neoplasms |