| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003855 |
BXGD000227 |
Arteriovenous fistula |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0004093 |
BXGD000251 |
Asthenia |
Pathological Conditions, Signs and Symptoms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004604 |
BXGD000278 |
Back Pain |
Pathological Conditions, Signs and Symptoms |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006114 |
BXGD000371 |
Cerebral Edema |
Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007859 |
BXGD000494 |
Neck Pain |
Pathological Conditions, Signs and Symptoms |
| C0009421 |
BXGD000608 |
Comatose |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| 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 |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015930 |
BXGD001025 |
Fetal Distress |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020555 |
BXGD001431 |
Hypertrichosis |
Skin and Connective Tissue Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0023264 |
BXGD001625 |
Leigh Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System 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 |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027441 |
BXGD001991 |
Nasopharyngitis |
Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029132 |
BXGD002117 |
Disorder of the optic nerve |
Eye Diseases; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035204 |
BXGD002511 |
Respiration Disorders |
Respiratory Tract Diseases |
| C0035227 |
BXGD002514 |
Respiratory Function Tests |
|
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035242 |
BXGD002521 |
Respiratory Tract Diseases |
Respiratory Tract Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0035920 |
BXGD002570 |
Rubella |
Infections |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037090 |
BXGD002665 |
Signs and Symptoms, Respiratory |
Pathological Conditions, Signs and Symptoms |
| C0038013 |
BXGD002725 |
Ankylosing spondylitis |
Musculoskeletal Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0085633 |
BXGD003216 |
Mood swings |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0155002 |
BXGD003762 |
Sudden visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0158945 |
BXGD003913 |
Congenital cytomegalovirus infection |
Infections |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0162666 |
BXGD003967 |
Mitochondrial Encephalomyopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0239377 |
BXGD004980 |
Arm Pain |
Pathological Conditions, Signs and Symptoms |
| C0242339 |
BXGD005150 |
Dyslipidemias |
Nutritional and Metabolic Diseases |
| C0242422 |
BXGD005163 |
Parkinsonian Disorders |
Nervous System Diseases |
| C0242596 |
BXGD005181 |
Neoplasm, Residual |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0270549 |
BXGD006079 |
Generalized Anxiety Disorder |
Mental Disorders |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0342776 |
BXGD007546 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
|
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0347180 |
BXGD007850 |
Penile intraepithelial neoplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases |
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0424551 |
BXGD008533 |
Impaired exercise tolerance |
|
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0729665 |
BXGD009933 |
Arteriovenous graft |
|
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751267 |
BXGD010371 |
Encephalopathy, Subacute Necrotizing, Infantile |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751268 |
BXGD010372 |
Encephalopathy, Subacute Necrotizing, Juvenile |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0917801 |
BXGD011412 |
Sleeplessness |
Nervous System Diseases; Mental Disorders |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1367654 |
BXGD012886 |
Marginal Zone B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1445953 |
BXGD013080 |
Poor eye contact |
Mental Disorders |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1838951 |
BXGD014347 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1838979 |
BXGD014349 |
MITOCHONDRIAL COMPLEX I DEFICIENCY |
Nutritional and Metabolic Diseases |
| C1839603 |
BXGD014388 |
Proximal tubulopathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1839888 |
BXGD014424 |
Decreased activity of the pyruvate dehydrogenase complex |
|
| C1847515 |
BXGD014869 |
Paroxysmal involuntary eye movements |
|
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1849488 |
BXGD015058 |
Increased serum pyruvate |
|
| C1850597 |
BXGD015155 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1850598 |
BXGD015156 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1850599 |
BXGD015157 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1850600 |
BXGD015158 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1852373 |
BXGD015276 |
Mitochondrial encephalopathy |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1855020 |
BXGD015451 |
Acute necrotizing encephalopathy |
|
| C1855483 |
BXGD015501 |
Progressive spastic paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859896 |
BXGD015941 |
Progressive macrocephaly |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2677650 |
BXGD017382 |
Decreased activity of mitochondrial complex I |
|
| C2931891 |
BXGD018091 |
Necrotizing encephalopathy, infantile subacute, of Leigh |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C4021546 |
BXGD020663 |
Abnormal mitochondria in muscle tissue |
|
| C4022748 |
BXGD020979 |
Focal T2 hyperintense brainstem lesion |
|
| C4024609 |
BXGD021340 |
Decreased activity of mitochondrial respiratory chain |
|
| C4024926 |
BXGD021478 |
Focal T2 hyperintense basal ganglia lesion |
|
| C4049938 |
BXGD021956 |
Physical Activity Measurement |
|
| C4310735 |
BXGD022644 |
PORTAL HYPERTENSION, NONCIRRHOTIC |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |