| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007820 |
BXGD000491 |
Cerebrovascular Disorders |
Nervous System Diseases; Cardiovascular Diseases |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine 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 |
| 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 |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020578 |
BXGD001434 |
Hyperventilation |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020672 |
BXGD001461 |
Hypothermia, natural |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System 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 |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
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 |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0032915 |
BXGD002380 |
Preexcitation Syndrome |
Cardiovascular Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085580 |
BXGD003191 |
Essential Hypertension |
Cardiovascular Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0151744 |
BXGD003469 |
Myocardial Ischemia |
Cardiovascular Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0152191 |
BXGD003556 |
Scotoma, Central |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0154835 |
BXGD003748 |
Retinal telangiectasia |
Cardiovascular Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234378 |
BXGD004661 |
Static Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0268630 |
BXGD006016 |
Hyper-beta-alaninemia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270922 |
BXGD006134 |
Peripheral demyelinating neuropathy |
Immune System Diseases; Nervous System Diseases |
| C0271196 |
BXGD006171 |
Scotoma, Centrocecal |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0339573 |
BXGD007271 |
Glaucoma, Primary Open Angle |
Eye Diseases |
| C0340100 |
BXGD007304 |
High altitude pulmonary edema |
Respiratory Tract Diseases |
| C0344232 |
BXGD007659 |
Blurred vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0559106 |
BXGD009465 |
Ventricular preexcitation |
Pathological Conditions, Signs and Symptoms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0700613 |
BXGD009896 |
Anxiety state |
Mental Disorders; Behavior and Behavior Mechanisms |
| C0751401 |
BXGD010427 |
Ophthalmoparesis |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0917796 |
BXGD011408 |
Optic Atrophy, Hereditary, Leber |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0948444 |
BXGD011539 |
Mitochondrial DNA mutation |
|
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1279420 |
BXGD012122 |
Anxiety neurosis (finding) |
Mental Disorders |
| C1445953 |
BXGD013080 |
Poor eye contact |
Mental Disorders |
| C1557375 |
BXGD013360 |
Blurred Vision, CTCAE |
|
| 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 |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| 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 |
| C1838990 |
BXGD014350 |
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL |
|
| C1838993 |
BXGD014351 |
Episodic vomiting |
Pathological Conditions, Signs and Symptoms |
| C1839532 |
BXGD014382 |
Low plasma citrulline |
|
| C1839603 |
BXGD014388 |
Proximal tubulopathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1842820 |
BXGD014538 |
Cardiac conduction abnormality |
|
| C1843077 |
BXGD014553 |
Segmental peripheral demyelination/remyelination |
|
| C1844945 |
BXGD014698 |
Episodic respiratory distress |
|
| C1847515 |
BXGD014869 |
Paroxysmal involuntary eye movements |
|
| C1849488 |
BXGD015058 |
Increased serum pyruvate |
|
| C1853141 |
BXGD015307 |
Slow decrease in visual acuity |
|
| C1856507 |
BXGD015614 |
Bulbar signs |
|
| C1860475 |
BXGD015985 |
Retinal vascular tortuosity |
|
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2677650 |
BXGD017382 |
Decreased activity of mitochondrial complex I |
|
| C2751582 |
BXGD017726 |
Mitochondrial respiratory chain defects |
|
| C2931092 |
BXGD017955 |
Maternally Inherited Leigh Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C3275417 |
BXGD018663 |
Ragged-red muscle fibers |
|
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665386 |
BXGD019284 |
Abnormal vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4021546 |
BXGD020663 |
Abnormal mitochondria in muscle tissue |
|
| C4021569 |
BXGD020677 |
Central retinal vessel vascular tortuosity |
|
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021795 |
BXGD020785 |
Abnormality of Krebs cycle metabolism |
|
| C4022013 |
BXGD020869 |
Multiple glomerular cysts |
|
| C4022748 |
BXGD020979 |
Focal T2 hyperintense brainstem lesion |
|
| C4024926 |
BXGD021478 |
Focal T2 hyperintense basal ganglia lesion |
|
| C4025585 |
BXGD021678 |
Lacticaciduria |
Nutritional and Metabolic Diseases |
| C4531122 |
BXGD023190 |
Abnormal speech prosody |
|
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |