| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002622 |
BXGD000119 |
Amnesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0002726 |
BXGD000125 |
Amyloidosis |
Nutritional and Metabolic Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004158 |
BXGD000261 |
Athetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0009241 |
BXGD000595 |
Cognition Disorders |
Mental Disorders |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011269 |
BXGD000710 |
Dementia, Vascular |
Nervous System Diseases; Mental Disorders; Cardiovascular Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| 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 |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018889 |
BXGD001243 |
Helminthiasis |
Infections |
| C0019270 |
BXGD001311 |
Hernia |
Pathological Conditions, Signs and Symptoms |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0020443 |
BXGD001385 |
Hypercholesterolemia |
Nutritional and Metabolic Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022336 |
BXGD001535 |
Creutzfeldt-Jakob disease |
Infections; Nervous System Diseases; Mental Disorders |
| C0023264 |
BXGD001625 |
Leigh Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023530 |
BXGD001683 |
Leukopenia |
Hemic and Lymphatic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
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 |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0030200 |
BXGD002193 |
Pain, Intractable |
Pathological Conditions, Signs and Symptoms |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0085220 |
BXGD003142 |
Cerebral Amyloid Angiopathy |
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0155550 |
BXGD003800 |
Neural hearing loss |
Otorhinolaryngologic Diseases |
| C0162568 |
BXGD003959 |
Erythropoietic Protoporphyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0162666 |
BXGD003967 |
Mitochondrial Encephalomyopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0232197 |
BXGD004536 |
Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235162 |
BXGD004727 |
Difficulty sleeping |
Mental Disorders |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0268583 |
BXGD005997 |
Methylmalonic acidemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0276496 |
BXGD006426 |
Familial Alzheimer Disease (FAD) |
Nervous System Diseases; Mental Disorders |
| C0333463 |
BXGD006954 |
Senile Plaques |
Pathological Conditions, Signs and Symptoms |
| C0338451 |
BXGD007176 |
Frontotemporal dementia |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0342782 |
BXGD007549 |
Depletion of mitochondrial DNA |
|
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0494463 |
BXGD009029 |
Alzheimer Disease, Late Onset |
Nervous System Diseases; Mental Disorders |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0542476 |
BXGD009276 |
Forgetful |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0751295 |
BXGD010383 |
Memory Loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0752347 |
BXGD010721 |
Lewy Body Disease |
Nervous System Diseases; Mental Disorders |
| C0852733 |
BXGD010952 |
Completed Suicide |
|
| C1261502 |
BXGD011856 |
Finding of Mean Corpuscular Hemoglobin |
|
| C1270972 |
BXGD012006 |
Mild cognitive disorder |
Mental Disorders |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1835993 |
BXGD014068 |
Loss of ability to walk in early childhood |
|
| C1836003 |
BXGD014069 |
Facial diplegia |
Infections; Nervous System Diseases; Stomatognathic Diseases |
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1838578 |
BXGD014322 |
Progressive encephalopathy |
Nervous System Diseases |
| C1838951 |
BXGD014347 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1842937 |
BXGD014546 |
AURAL ATRESIA, CONGENITAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1843013 |
BXGD014549 |
Alzheimer disease, familial, type 3 |
Nervous System Diseases; Mental Disorders |
| C1846149 |
BXGD014786 |
Intellectual disability, progressive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| 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 |
| C1855119 |
BXGD015463 |
Methylmalonic aciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1855126 |
BXGD015464 |
3-Methylglutaconic Aciduria Type IV |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| 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 |
| C1857640 |
BXGD015726 |
Decreased nerve conduction velocity |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2749864 |
BXGD017636 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) |
|
| C2900450 |
BXGD017854 |
Other Creutzfeldt-Jakob disease |
Infections; Nervous System Diseases; Mental Disorders |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2919758 |
BXGD017879 |
Deficiency of succinate-CoA ligase |
|
| C2931891 |
BXGD018091 |
Necrotizing encephalopathy, infantile subacute, of Leigh |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2936349 |
BXGD018109 |
Plaque, Amyloid |
Pathological Conditions, Signs and Symptoms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3501372 |
BXGD019022 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3711369 |
BXGD019379 |
Succinate-Coa Ligase Deficiency |
Nutritional and Metabolic Diseases |
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3811915 |
BXGD019663 |
SUCLA2 |
|
| C3887506 |
BXGD019886 |
Hyperkinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4024609 |
BXGD021340 |
Decreased activity of mitochondrial respiratory chain |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4302061 |
BXGD022521 |
Ischemic vascular dementia |
Nervous System Diseases; Mental Disorders; Cardiovascular Diseases |
| C4317109 |
BXGD022725 |
Epileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4520981 |
BXGD023051 |
Abnormality of the basal ganglia |
|
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4551511 |
BXGD023330 |
X-linked sideroblastic anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4721773 |
BXGD023768 |
Postoperative cognitive dysfunction |
|