| C0002875 |
BXGD000135 |
Cooley's anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003872 |
BXGD000235 |
Arthritis, Psoriatic |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0006112 |
BXGD000370 |
Brain Diseases, Metabolic |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0006114 |
BXGD000371 |
Cerebral Edema |
Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009421 |
BXGD000608 |
Comatose |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0013363 |
BXGD000818 |
Dysautonomia |
Nervous System Diseases |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014378 |
BXGD000912 |
Enterovirus Infections |
Infections |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015674 |
BXGD001012 |
Chronic Fatigue Syndrome |
Infections; Musculoskeletal Diseases; Nervous System Diseases |
| 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 |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016506 |
BXGD001062 |
Foot Deformities |
Musculoskeletal Diseases |
| C0017921 |
BXGD001152 |
Glycogen storage disease type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0017924 |
BXGD001155 |
Glycogen Storage Disease Type V |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0019158 |
BXGD001293 |
Hepatitis |
Digestive System Diseases |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020473 |
BXGD001396 |
Hyperlipidemia |
Nutritional and Metabolic Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0022638 |
BXGD001567 |
Ketosis |
Nutritional and Metabolic Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022680 |
BXGD001576 |
Polycystic Kidney Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027080 |
BXGD001969 |
Myoglobinuria |
Musculoskeletal Diseases |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027849 |
BXGD002049 |
Neuroleptic Malignant Syndrome |
Nervous System Diseases; Chemically-Induced Disorders |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035410 |
BXGD002546 |
Rhabdomyolysis |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0039239 |
BXGD002803 |
Sinus Tachycardia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0150055 |
BXGD003401 |
Chronic pain |
Pathological Conditions, Signs and Symptoms |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0154251 |
BXGD003710 |
Lipid Metabolism Disorders |
Nutritional and Metabolic Diseases |
| C0155626 |
BXGD003806 |
Acute myocardial infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0162297 |
BXGD003932 |
Respiratory arrest |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0162323 |
BXGD003937 |
Polyarthritis |
Musculoskeletal Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178417 |
BXGD004025 |
Anhedonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0220710 |
BXGD004329 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0220994 |
BXGD004357 |
Hyperammonemia |
Pathological Conditions, Signs and Symptoms |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0221365 |
BXGD004452 |
Double ureter |
|
| C0231528 |
BXGD004496 |
Myalgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242339 |
BXGD005150 |
Dyslipidemias |
Nutritional and Metabolic Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0268238 |
BXGD005862 |
Triglyceride storage disease with ichthyosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0268596 |
BXGD006000 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270984 |
BXGD006149 |
Metabolic myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0311335 |
BXGD006877 |
Grand Mal Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0332615 |
BXGD006898 |
Myopathic facies |
|
| C0342751 |
BXGD007542 |
Generalized glycogen storage disease of infants |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0342788 |
BXGD007552 |
Renal carnitine transport defect |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0342790 |
BXGD007553 |
Carnitine palmitoyl transferase 2 deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0400966 |
BXGD008266 |
Non-alcoholic Fatty Liver Disease |
Digestive System Diseases |
| C0409338 |
BXGD008381 |
Flexion contracture - elbow |
|
| C0410158 |
BXGD008408 |
Muscle damage |
|
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0542518 |
BXGD009278 |
Enlarged kidney |
|
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0741494 |
BXGD010035 |
Elevated total bilirubin |
|
| C0750968 |
BXGD010267 |
Central Nervous System Metabolic Disorders |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0751743 |
BXGD010570 |
Metabolic Disorder, Central Nervous System, Acquired |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751744 |
BXGD010571 |
Brain Diseases, Metabolic, Acquired |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0854530 |
BXGD011023 |
Infection by human herpesvirus 6 |
Infections |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C1135773 |
BXGD011699 |
Acquired Metabolic Diseases, Nervous System |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306587 |
BXGD012368 |
Acute encephalopathy |
Nervous System Diseases |
| C1398312 |
BXGD012999 |
Narrow palate |
|
| C1445957 |
BXGD013081 |
Serum total cholesterol measurement |
|
| C1449563 |
BXGD013086 |
Cardiomyopathy, Familial Idiopathic |
Cardiovascular Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1696466 |
BXGD013502 |
Hepatic calcification |
|
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1829703 |
BXGD013792 |
Carnitine palmitoyl transferase 1A deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1833508 |
BXGD013930 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1833511 |
BXGD013931 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases |
| C1833518 |
BXGD013932 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1836923 |
BXGD014178 |
Gastrointestinal dysmotility |
|
| C1837246 |
BXGD014208 |
Intracerebral periventricular calcifications |
|
| C1837247 |
BXGD014209 |
Antenatal intracerebral hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C1837251 |
BXGD014211 |
Basal ganglia cysts |
|
| C1837256 |
BXGD014212 |
Macrovesicular hepatic steatosis |
Digestive System Diseases |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837262 |
BXGD014215 |
Increased muscle lipid content |
|
| C1837273 |
BXGD014216 |
Long-chain dicarboxylic aciduria |
|
| C1837279 |
BXGD014217 |
Hypoplastic toenails |
|
| C1837731 |
BXGD014260 |
Overfolded helix |
|
| C1844577 |
BXGD014647 |
Hyperextensibility of the finger joints |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1855020 |
BXGD015451 |
Acute necrotizing encephalopathy |
|
| C1856438 |
BXGD015606 |
Hypoketotic hypoglycemia |
Nutritional and Metabolic Diseases |
| C1856877 |
BXGD015648 |
Hyperextensible hand joints |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1865292 |
BXGD016306 |
Nonketotic hypoglycemia |
Nutritional and Metabolic Diseases |
| C1881170 |
BXGD016583 |
Inappropriate sinus tachycardia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C1969443 |
BXGD016778 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2718017 |
BXGD017522 |
TDP-43 Proteinopathies |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3150613 |
BXGD018311 |
Long toe |
|
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3280160 |
BXGD018810 |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3854173 |
BXGD019824 |
Pre-renal acute kidney injury |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3887523 |
BXGD019891 |
Very long chain acyl-CoA dehydrogenase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C4015009 |
BXGD020177 |
Decreased plasma free carnitine |
|
| C4021167 |
BXGD020572 |
Tapered toe |
|
| C4022810 |
BXGD021005 |
Abnormality of nervous system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4023117 |
BXGD021114 |
Decreased plasma total carnitine |
|
| C4023808 |
BXGD021268 |
Hyperextensibility at elbow |
|
| C4529962 |
BXGD023178 |
Fatty Liver Disease |
|
| C4706387 |
BXGD023690 |
Acute necrotizing encephalopathy of childhood |
|
| C4707658 |
BXGD023720 |
Acute encephalopathy with biphasic seizures and late reduced diffusion |
Nervous System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|