| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002874 |
BXGD000134 |
Aplastic Anemia |
Hemic and Lymphatic Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004138 |
BXGD000258 |
Ataxias, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0004277 |
BXGD000266 |
Tooth Attrition |
Stomatognathic Diseases |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0012569 |
BXGD000777 |
Diplopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0022340 |
BXGD001536 |
Late-Infantile Neuronal Ceroid Lipfuscinosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0022797 |
BXGD001586 |
Adult Neuronal Ceroid Lipofuscinosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023473 |
BXGD001661 |
Myeloid Leukemia, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027877 |
BXGD002055 |
Neuronal Ceroid-Lipofuscinoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0027888 |
BXGD002056 |
Hereditary Motor and Sensory Neuropathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030283 |
BXGD002200 |
Pancreatic Cyst |
Digestive System Diseases; Neoplasms |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034067 |
BXGD002456 |
Pulmonary Emphysema |
Respiratory Tract Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0036391 |
BXGD002608 |
Schwartz-Jampel Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038325 |
BXGD002745 |
Stevens-Johnson Syndrome |
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0079680 |
BXGD003085 |
Lentivirus Infections |
Infections |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0151449 |
BXGD003419 |
Primary Sjögren's syndrome |
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0162672 |
BXGD003972 |
MERRF Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0233844 |
BXGD004620 |
Clumsiness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234378 |
BXGD004661 |
Static Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0241210 |
BXGD005086 |
Speech Delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0241816 |
BXGD005115 |
Global brain atrophy |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265965 |
BXGD005592 |
Dyskeratosis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C0268274 |
BXGD005877 |
Gangliosidoses, GM2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268281 |
BXGD005882 |
Infantile neuronal ceroid lipofuscinosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268468 |
BXGD005957 |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0271270 |
BXGD006178 |
Oculovestibuloauditory syndrome |
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0271385 |
BXGD006193 |
Horizontal Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0272170 |
BXGD006312 |
Shwachman syndrome |
|
| C0276496 |
BXGD006426 |
Familial Alzheimer Disease (FAD) |
Nervous System Diseases; Mental Disorders |
| C0278184 |
BXGD006506 |
Scanning speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0339143 |
BXGD007226 |
Thyroid associated opthalmopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases |
| C0347959 |
BXGD007865 |
Lactic acidemia |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0423083 |
BXGD008469 |
Hypermetric saccades |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0494463 |
BXGD009029 |
Alzheimer Disease, Late Onset |
Nervous System Diseases; Mental Disorders |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0546126 |
BXGD009328 |
Acute Confusional Senile Dementia |
Nervous System Diseases; Mental Disorders |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0750900 |
BXGD010241 |
Alzheimer's Disease, Focal Onset |
Nervous System Diseases; Mental Disorders |
| C0750901 |
BXGD010242 |
Alzheimer Disease, Early Onset |
Nervous System Diseases; Mental Disorders |
| C0750937 |
BXGD010259 |
Ataxia, Appendicular |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751383 |
BXGD010422 |
Juvenile Neuronal Ceroid Lipofuscinosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751783 |
BXGD010592 |
Lafora Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752125 |
BXGD010673 |
Spinocerebellar Ataxia Type 7 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C1148551 |
BXGD011766 |
X-Linked Dyskeratosis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1285498 |
BXGD012171 |
Vegetation |
|
| C1291230 |
BXGD012204 |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1295585 |
BXGD012241 |
Decreased vibratory sense |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1334274 |
BXGD012695 |
Invasive Carcinoma |
Neoplasms |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1834207 |
BXGD013961 |
Ceroid Lipofuscinosis, Neuronal, Parry Type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1836392 |
BXGD014111 |
Dysmetric saccades |
|
| C1836474 |
BXGD014120 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1836479 |
BXGD014121 |
Saccadic smooth pursuit |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1836852 |
BXGD014169 |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
| C1839364 |
BXGD014371 |
Progressive visual loss |
|
| C1843885 |
BXGD014616 |
Progressive gait ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1846142 |
BXGD014785 |
HOYERAAL-HREIDARSSON SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms |
| C1850041 |
BXGD015098 |
Facial hirsutism |
|
| C1850451 |
BXGD015145 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1851400 |
BXGD015210 |
Facial Hypertrichosis |
Skin and Connective Tissue Diseases |
| C1853241 |
BXGD015321 |
Flat face |
|
| C1854494 |
BXGD015409 |
Slow progression |
|
| C1855685 |
BXGD015531 |
Undetectable electroretinogram |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859828 |
BXGD015934 |
Increased extraneuronal autofluorescent lipopigment |
|
| C1876161 |
BXGD016555 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C3273225 |
BXGD018648 |
Hereditary Neurodegenerative Disorder |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3489733 |
BXGD018945 |
Oculomotor apraxia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases |
| C3541994 |
BXGD019100 |
Drug Hypersensitivity Syndrome |
Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3896673 |
BXGD020041 |
Familial Nonmedullary Thyroid Gland Carcinoma |
|
| C4021219 |
BXGD020582 |
Multifocal epileptiform discharges |
|
| C4021727 |
BXGD020736 |
EMG: neuropathic changes |
|
| C4021781 |
BXGD020776 |
Abnormal nervous system electrophysiology |
|
| C4022738 |
BXGD020974 |
Neurodevelopmental delay |
|
| C4024710 |
BXGD021381 |
Cerebellar cortical atrophy |
|
| C4025728 |
BXGD021760 |
Increased neuronal autofluorescent lipopigment |
|
| C4025860 |
BXGD021833 |
Hearing abnormality |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4551584 |
BXGD023362 |
Brain atrophy |
Nervous System Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|