| 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 |
| 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 |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| 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 |
| 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 |
| 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 |
| C0019693 |
BXGD001346 |
HIV Infections |
Infections; Immune 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 |
| C0024814 |
BXGD001809 |
Marinesco-Sjogren syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| 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 |
| 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 |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036220 |
BXGD002587 |
Kaposi Sarcoma |
Neoplasms; Infections |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0041408 |
BXGD002923 |
Turner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085633 |
BXGD003216 |
Mood swings |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0153446 |
BXGD003646 |
Malignant neoplasm of anus |
Digestive System Diseases; Neoplasms |
| C0155626 |
BXGD003806 |
Acute myocardial infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0220981 |
BXGD004348 |
Metabolic acidosis |
Nutritional and Metabolic Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234133 |
BXGD004624 |
Extrapyramidal sign |
|
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270736 |
BXGD006096 |
Essential Tremor |
Nervous System Diseases |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279637 |
BXGD006665 |
Anal carcinoma |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0282666 |
BXGD006824 |
Very Low Birth Weight |
|
| C0334583 |
BXGD007124 |
Pilocytic Astrocytoma |
Neoplasms |
| C0342776 |
BXGD007546 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
|
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0348374 |
BXGD007870 |
Malignant Central Nervous System Neoplasm |
Neoplasms; Nervous System Diseases |
| C0349081 |
BXGD007889 |
Dementia in Parkinson's disease |
|
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0520459 |
BXGD009084 |
Necrotizing Enterocolitis |
Digestive System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0751229 |
BXGD010359 |
Hypersomnolence |
Nervous System Diseases; Mental Disorders |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0856825 |
BXGD011118 |
Acute GVH disease |
Immune System Diseases |
| C0867389 |
BXGD011300 |
Chronic graft-versus-host disease |
Immune System Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917801 |
BXGD011412 |
Sleeplessness |
Nervous System Diseases; Mental Disorders |
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1270972 |
BXGD012006 |
Mild cognitive disorder |
Mental Disorders |
| C1297883 |
BXGD012245 |
Radial scar |
Pathological Conditions, Signs and Symptoms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| 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 |
|
| 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 |
| 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 |
| C1960398 |
BXGD016658 |
HER2-positive carcinoma of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| 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 |
| 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 |
|
| C4082937 |
BXGD022095 |
Necrotizing enterocolitis in fetus OR newborn |
Digestive System Diseases |
| 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 |
| C4748752 |
BXGD024014 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 |
|