| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0006114 |
BXGD000371 |
Cerebral Edema |
Nervous System Diseases |
| C0008370 |
BXGD000534 |
Cholestasis |
Digestive System Diseases |
| C0008372 |
BXGD000535 |
Intrahepatic Cholestasis |
Digestive System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| 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 |
| C0011206 |
BXGD000703 |
Delirium |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0011253 |
BXGD000706 |
Delusions |
Behavior and Behavior Mechanisms |
| C0011991 |
BXGD000766 |
Diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0013144 |
BXGD000800 |
Drowsiness |
Mental Disorders |
| C0013528 |
BXGD000851 |
Echolalia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014394 |
BXGD000914 |
Enuresis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017181 |
BXGD001103 |
Gastrointestinal Hemorrhage |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0018524 |
BXGD001200 |
Hallucinations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0019151 |
BXGD001290 |
Hepatic Encephalopathy |
Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019214 |
BXGD001307 |
Hepatosplenomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0020433 |
BXGD001379 |
Hyperbilirubinemia |
Pathological Conditions, Signs and Symptoms |
| C0020443 |
BXGD001385 |
Hypercholesterolemia |
Nutritional and Metabolic Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0020639 |
BXGD001457 |
Hypoproteinemia |
Hemic and Lymphatic Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022346 |
BXGD001537 |
Icterus |
Pathological Conditions, Signs and Symptoms |
| C0022354 |
BXGD001540 |
Jaundice, Obstructive |
Pathological Conditions, Signs and Symptoms |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0027613 |
BXGD002004 |
Neonatal hepatitis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028081 |
BXGD002070 |
Night sweats |
|
| C0030286 |
BXGD002201 |
Pancreatic Diseases |
Digestive System Diseases |
| C0030305 |
BXGD002206 |
Pancreatitis |
Digestive System Diseases |
| C0033975 |
BXGD002447 |
Psychotic Disorders |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149904 |
BXGD003383 |
Cholestatic hepatitis |
Digestive System Diseases |
| C0151691 |
BXGD003460 |
Decreased HDL cholesterol concentration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0151849 |
BXGD003486 |
Alkaline phosphatase raised |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0151872 |
BXGD003493 |
Prothrombin time increased |
Hemic and Lymphatic Diseases |
| C0162275 |
BXGD003924 |
Ketonuria |
Nutritional and Metabolic Diseases |
| C0175683 |
BXGD003998 |
Citrullinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0220994 |
BXGD004357 |
Hyperammonemia |
Pathological Conditions, Signs and Symptoms |
| C0231255 |
BXGD004489 |
Decreased body mass index |
Pathological Conditions, Signs and Symptoms |
| C0232462 |
BXGD004542 |
Decrease in appetite |
Digestive System Diseases; Nervous System Diseases; Mental Disorders |
| C0232766 |
BXGD004562 |
Asterixis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0232939 |
BXGD004568 |
Primary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0235971 |
BXGD004795 |
Elevated alpha-fetoprotein |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0239981 |
BXGD005011 |
Hypoalbuminemia |
Hemic and Lymphatic Diseases |
| C0268307 |
BXGD005892 |
Conjugated hyperbilirubinemia |
Pathological Conditions, Signs and Symptoms |
| C0268312 |
BXGD005894 |
Progressive intrahepatic cholestasis (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0268457 |
BXGD005952 |
Aminoacidemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268483 |
BXGD005959 |
Tyrosinemias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268553 |
BXGD005981 |
Hyperlysinemias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270217 |
BXGD006069 |
Perinatal jaundice due to inspissated bile syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0338831 |
BXGD007216 |
Manic |
Mental Disorders |
| C0400966 |
BXGD008266 |
Non-alcoholic Fatty Liver Disease |
Digestive System Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0542476 |
BXGD009276 |
Forgetful |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0549399 |
BXGD009376 |
Low density lipoprotein increased |
Nutritional and Metabolic Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0810364 |
BXGD010846 |
Cleft Lip with or without Cleft Palate |
|
| C0917801 |
BXGD011412 |
Sleeplessness |
Nervous System Diseases; Mental Disorders |
| C0949173 |
BXGD011572 |
Delayed menarche |
Endocrine System Diseases |
| C1314665 |
BXGD012386 |
Serum alkaline phosphatase raised |
|
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1848861 |
BXGD014978 |
Hyperthreoninemia |
|
| C1851959 |
BXGD015251 |
Fluctuations in consciousness |
|
| C1853942 |
BXGD015368 |
CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1859506 |
BXGD015904 |
Acute hyperammonemia |
Pathological Conditions, Signs and Symptoms |
| C1863844 |
BXGD016200 |
Adult-onset citrullinemia type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C1963167 |
BXGD016686 |
Memory Impairment, CTCAE 3.0 |
|
| C1997910 |
BXGD016864 |
Citrin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2673558 |
BXGD017211 |
Increased urinary glycerol |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2830004 |
BXGD017804 |
Somnolence |
Pathological Conditions, Signs and Symptoms |
| C3887612 |
BXGD019905 |
Psychomotor Agitation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C4021982 |
BXGD020856 |
Abnormal eating behavior |
|
| C4023071 |
BXGD021096 |
Hypergalactosemia |
|
| C4023102 |
BXGD021107 |
Elevated plasma citrulline |
|
| C4048270 |
BXGD021897 |
Decreased antibody level in blood |
|
| C4048705 |
BXGD021907 |
Hypermethioninemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C4476869 |
BXGD022882 |
Elevated gamma-glutamyltransferase activity |
|
| C4477095 |
BXGD022922 |
Increased lactate dehydrogenase activity |
|
| C4551898 |
BXGD023434 |
Cholestasis, progressive familial intrahepatic 1 |
Digestive System Diseases |
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4553765 |
BXGD023551 |
Memory Impairment, CTCAE 5.0 |
|
| C4688318 |
BXGD023585 |
Refractory Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C4721769 |
BXGD023765 |
Citrullinemia Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|