| 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 |
| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005956 |
BXGD000356 |
Bone Marrow Diseases |
Hemic and Lymphatic Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007192 |
BXGD000450 |
Cardiomyopathy, Alcoholic |
Chemically-Induced Disorders; Cardiovascular Diseases |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010036 |
BXGD000642 |
Corneal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0014378 |
BXGD000912 |
Enterovirus Infections |
Infections |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018021 |
BXGD001162 |
Goiter |
Endocrine System Diseases |
| C0018790 |
BXGD001221 |
Cardiac Arrest |
Cardiovascular Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0020550 |
BXGD001429 |
Hyperthyroidism |
Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022541 |
BXGD001550 |
Kearns-Sayre syndrome |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0022638 |
BXGD001567 |
Ketosis |
Nutritional and Metabolic Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| 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 |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027055 |
BXGD001964 |
Myocardial Reperfusion Injury |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028734 |
BXGD002080 |
Nocturia |
Pathological Conditions, Signs and Symptoms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030252 |
BXGD002199 |
Palpitations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037928 |
BXGD002713 |
Spinal Cord Diseases |
Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042571 |
BXGD002991 |
Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0085612 |
BXGD003204 |
Ventricular arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0086439 |
BXGD003284 |
Hypokinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151564 |
BXGD003440 |
Cogwheel Rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System 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 |
| C0152020 |
BXGD003519 |
Gastroparesis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0162292 |
BXGD003930 |
External Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162671 |
BXGD003971 |
MELAS Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0162672 |
BXGD003972 |
MERRF Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162674 |
BXGD003973 |
Chronic progressive external ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0206754 |
BXGD004289 |
Neuroendocrine Tumors |
Neoplasms |
| C0231528 |
BXGD004496 |
Myalgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0233565 |
BXGD004590 |
Bradykinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234379 |
BXGD004662 |
Resting Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238288 |
BXGD004905 |
Muscular Dystrophy, Facioscapulohumeral |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0239067 |
BXGD004961 |
Difficulty walking up stairs |
Pathological Conditions, Signs and Symptoms |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242422 |
BXGD005163 |
Parkinsonian Disorders |
Nervous System Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0342418 |
BXGD007478 |
Hypothalamic hamartomas |
Neoplasms; Nervous System Diseases |
| C0344424 |
BXGD007669 |
Ventricular Arrhythmia by ECG Finding |
|
| C0369183 |
BXGD007960 |
Erythrocyte Mean Corpuscular Hemoglobin Test |
|
| C0375023 |
BXGD007970 |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site |
|
| C0424551 |
BXGD008533 |
Impaired exercise tolerance |
|
| C0427063 |
BXGD008602 |
Shoulder girdle weakness |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0525045 |
BXGD009255 |
Mood Disorders |
Mental Disorders |
| C0558845 |
BXGD009459 |
Reflex, Ankle, Absent |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0577655 |
BXGD009536 |
Quadriceps weakness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0746674 |
BXGD010147 |
Generalized muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0795692 |
BXGD010730 |
Hyperlactatemia |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0813217 |
BXGD010854 |
Expressionless face |
Nervous System Diseases |
| C0850703 |
BXGD010905 |
Frequent falls |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0853897 |
BXGD010985 |
Diabetic Cardiomyopathies |
Endocrine System Diseases; Cardiovascular Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0949658 |
BXGD011582 |
Cardiomyopathy, Hypertrophic, Familial |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1261502 |
BXGD011856 |
Finding of Mean Corpuscular Hemoglobin |
|
| C1263857 |
BXGD011900 |
Peripheral axonal neuropathy |
Nervous System Diseases |
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1449563 |
BXGD013086 |
Cardiomyopathy, Familial Idiopathic |
Cardiovascular Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1834846 |
BXGD013997 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C1836003 |
BXGD014069 |
Facial diplegia |
Infections; Nervous System Diseases; Stomatognathic Diseases |
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1836460 |
BXGD014119 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1837098 |
BXGD014198 |
Easy fatigability |
|
| C1839839 |
BXGD014416 |
MAJOR AFFECTIVE DISORDER 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders |
| C1843156 |
BXGD014561 |
Progressive sensorineural hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1852197 |
BXGD015264 |
MAJOR AFFECTIVE DISORDER 1 |
Mental Disorders |
| C1854494 |
BXGD015409 |
Slow progression |
|
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859317 |
BXGD015874 |
Cataract and cardiomyopathy |
Eye Diseases; Cardiovascular Diseases |
| C1883529 |
BXGD016597 |
Ventricular Arrhythmia, CTCAE 3.0 |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1970943 |
BXGD016852 |
MAJOR AFFECTIVE DISORDER 4 |
Mental Disorders |
| C1970945 |
BXGD016853 |
MAJOR AFFECTIVE DISORDER 6 |
Mental Disorders |
| C1998028 |
BXGD016865 |
Photoreceptor degeneration |
Eye Diseases |
| C2676780 |
BXGD017346 |
Progeroid Syndrome, Congenital, Petty Type |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2700438 |
BXGD017469 |
MAJOR AFFECTIVE DISORDER 7 |
Mental Disorders |
| C2700439 |
BXGD017470 |
MAJOR AFFECTIVE DISORDER 8 |
Mental Disorders |
| C2700440 |
BXGD017471 |
MAJOR AFFECTIVE DISORDER 9 |
Mental Disorders |
| C2718001 |
BXGD017521 |
Protein Misfolding Disorders |
Nutritional and Metabolic Diseases |
| C2751582 |
BXGD017726 |
Mitochondrial respiratory chain defects |
|
| C3160712 |
BXGD018467 |
Palpitations, CTCAE |
|
| C3275417 |
BXGD018663 |
Ragged-red muscle fibers |
|
| C3277376 |
BXGD018713 |
Multiple mitochondrial DNA deletions |
|
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3809443 |
BXGD019589 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE |
|
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021724 |
BXGD020734 |
Cytochrome C oxidase-negative muscle fibers |
|
| C4021726 |
BXGD020735 |
EMG: myopathic abnormalities |
Musculoskeletal Diseases; Nervous System Diseases |
| C4021734 |
BXGD020742 |
Abnormality of mitochondrial metabolism |
|
| C4022792 |
BXGD020999 |
Reduced ejection fraction |
|
| C4023042 |
BXGD021081 |
Abnormality of the mitochondrion |
|
| C4024946 |
BXGD021493 |
Focal white matter lesions |
Pathological Conditions, Signs and Symptoms |
| C4025597 |
BXGD021685 |
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4310676 |
BXGD022621 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT |
|
| C4321247 |
BXGD022745 |
Mitochondrial DNA Depletion Syndrome 12 |
|
| C4552811 |
BXGD023526 |
Generalized Muscle Weakness, CTCAE |
|
| C4553764 |
BXGD023550 |
Ventricular Arrhythmia, CTCAE 5.0 |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|