| C0002312 |
BXGD000107 |
alpha-Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005941 |
BXGD000353 |
Bone Diseases, Developmental |
Musculoskeletal Diseases |
| C0006012 |
BXGD000360 |
Borderline Personality Disorder |
Mental Disorders |
| C0006287 |
BXGD000390 |
Bronchopulmonary Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0007789 |
BXGD000488 |
Cerebral Palsy |
Nervous System Diseases |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0009241 |
BXGD000595 |
Cognition Disorders |
Mental Disorders |
| C0009952 |
BXGD000639 |
Febrile Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011603 |
BXGD000734 |
Dermatitis |
Skin and Connective Tissue Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013132 |
BXGD000799 |
Drooling |
Stomatognathic Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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 |
| C0014070 |
BXGD000887 |
Encephalomyelitis |
Infections; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014547 |
BXGD000927 |
Epilepsies, Partial |
Nervous System Diseases |
| C0014550 |
BXGD000930 |
Myoclonic Epilepsy |
Nervous System Diseases |
| C0014553 |
BXGD000931 |
Absence Epilepsy |
Nervous System Diseases |
| C0014556 |
BXGD000932 |
Epilepsy, Temporal Lobe |
Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015732 |
BXGD001018 |
Fecal Incontinence |
Digestive System Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018524 |
BXGD001200 |
Hallucinations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0019372 |
BXGD001329 |
Herpesviridae Infections |
Infections |
| C0020445 |
BXGD001386 |
Hypercholesterolemia, Familial |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0021125 |
BXGD001483 |
Impulsive Behavior |
Behavior and Behavior Mechanisms |
| C0022575 |
BXGD001555 |
Keratoconjunctivitis Sicca |
Eye Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026760 |
BXGD001927 |
Multiple Epiphyseal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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 |
| C0026837 |
BXGD001937 |
Muscle Rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027796 |
BXGD002037 |
Neuralgia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030499 |
BXGD002232 |
Parasitic Diseases |
Infections |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031069 |
BXGD002279 |
Familial Mediterranean Fever |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0032768 |
BXGD002370 |
Postherpetic neuralgia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037140 |
BXGD002667 |
B Virus Infection |
Infections |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0039445 |
BXGD002810 |
Hereditary hemorrhagic telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040827 |
BXGD002886 |
Saturnine Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042024 |
BXGD002949 |
Urinary Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0086237 |
BXGD003273 |
Epilepsy, Cryptogenic |
Nervous System Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0149840 |
BXGD003371 |
Senile Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
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 |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0205748 |
BXGD004117 |
Dysplastic Nevus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C0205858 |
BXGD004135 |
General Paralysis |
Infections; Nervous System Diseases |
| C0220669 |
BXGD004318 |
Familial benign neonatal epilepsy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0220726 |
BXGD004333 |
Diastrophic dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231686 |
BXGD004508 |
Gait, Unsteady |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| 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 |
| C0234166 |
BXGD004628 |
Hyperexplexia |
Nervous System Diseases |
| C0234357 |
BXGD004650 |
Adiadochokinesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234370 |
BXGD004653 |
Persistent Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234371 |
BXGD004654 |
Continuous Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234372 |
BXGD004655 |
Intermittent Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234373 |
BXGD004656 |
Fine Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234374 |
BXGD004657 |
Coarse Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234375 |
BXGD004658 |
Massive Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234376 |
BXGD004659 |
Action Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234377 |
BXGD004660 |
Passive Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234378 |
BXGD004661 |
Static Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234379 |
BXGD004662 |
Resting Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234381 |
BXGD004663 |
Darkness Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234428 |
BXGD004666 |
Disturbance of consciousness |
|
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235078 |
BXGD004719 |
Tremor, Perioral |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235081 |
BXGD004720 |
Tremor, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235082 |
BXGD004721 |
Tremor, Muscle |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235083 |
BXGD004722 |
Nerve Tremors |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235843 |
BXGD004777 |
Tremor, Neonatal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0236018 |
BXGD004804 |
Aura |
Nervous System Diseases |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0240479 |
BXGD005039 |
Neck muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0240991 |
BXGD005069 |
Ataxia, Sensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270736 |
BXGD006096 |
Essential Tremor |
Nervous System Diseases |
| C0270823 |
BXGD006112 |
Petit mal status |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270834 |
BXGD006114 |
Complex partial seizure with impairment of consciousness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270844 |
BXGD006115 |
Tonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0271616 |
BXGD006220 |
Precocious female puberty |
Endocrine System Diseases |
| C0272002 |
BXGD006292 |
alpha^0^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0278161 |
BXGD006504 |
Ataxia, Motor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0311335 |
BXGD006877 |
Grand Mal Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0343284 |
BXGD007613 |
Chondrodysplasia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0392699 |
BXGD008064 |
Dysesthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0393706 |
BXGD008126 |
Early infantile epileptic encephalopathy with suppression bursts |
Nervous System Diseases |
| C0393734 |
BXGD008131 |
Complex Partial Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0410538 |
BXGD008434 |
Pseudoachondroplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0427190 |
BXGD008611 |
Ataxia, Truncal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0438696 |
BXGD008805 |
Suicidal |
Behavior and Behavior Mechanisms |
| C0454455 |
BXGD008835 |
Mirror movements disorder |
Nervous System Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0472761 |
BXGD008916 |
Homozygous alpha thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0520679 |
BXGD009101 |
Sleep Apnea, Obstructive |
Respiratory Tract Diseases; Nervous System Diseases |
| C0520966 |
BXGD009128 |
Abnormal coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0542476 |
BXGD009276 |
Forgetful |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0543888 |
BXGD009300 |
Epileptic encephalopathy |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0700292 |
BXGD009884 |
Hypoxemia |
Pathological Conditions, Signs and Symptoms |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0742028 |
BXGD010051 |
Cerebellar vermis atrophy |
|
| C0745103 |
BXGD010114 |
Hyperlipoproteinemia Type IIa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0750937 |
BXGD010259 |
Ataxia, Appendicular |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0750940 |
BXGD010260 |
Tremor, Rubral |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0750994 |
BXGD010280 |
Cerebellar Hemiataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751111 |
BXGD010319 |
Awakening Epilepsy |
Nervous System Diseases |
| C0751122 |
BXGD010325 |
Infantile Severe Myoclonic Epilepsy |
Nervous System Diseases |
| C0751494 |
BXGD010472 |
Convulsive Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751522 |
BXGD010488 |
Status Epilepticus, Subclinical |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751523 |
BXGD010489 |
Non-Convulsive Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751524 |
BXGD010490 |
Simple Partial Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751564 |
BXGD010502 |
Pill Rolling Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751565 |
BXGD010503 |
Tremor, Semirhythmic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752210 |
BXGD010697 |
Dyskinesias, Paroxysmal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0876973 |
BXGD011322 |
Infectious Lung Disorder |
Infections; Respiratory Tract Diseases |
| C0877430 |
BXGD011347 |
Asthma chronic |
|
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0973461 |
BXGD011595 |
Dysphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1270972 |
BXGD012006 |
Mild cognitive disorder |
Mental Disorders |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1456873 |
BXGD013129 |
alpha^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1527366 |
BXGD013280 |
Salaam Seizures |
Nervous System Diseases |
| C1527384 |
BXGD013283 |
Involuntary Quiver |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1536075 |
BXGD013333 |
Sudden unexplained death in epilepsy |
|
| C1561643 |
BXGD013363 |
Chronic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1740801 |
BXGD013744 |
Exaggerated startle response |
|
| C1834055 |
BXGD013953 |
Underdeveloped nasal alae |
|
| C1835807 |
BXGD014051 |
Prominent fingertip pads |
|
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836308 |
BXGD014107 |
Generalized joint laxity |
|
| C1836508 |
BXGD014124 |
Generalized tonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836829 |
BXGD014164 |
Developmental stagnation at onset of seizures |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1838391 |
BXGD014313 |
Limb hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1839333 |
BXGD014369 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
Nervous System Diseases |
| C1842581 |
BXGD014525 |
Abnormal corpus callosum morphology |
Pathological Conditions, Signs and Symptoms |
| C1843146 |
BXGD014560 |
Normal interictal EEG |
|
| C1845251 |
BXGD014734 |
Facial hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1846176 |
BXGD014791 |
Hyperactive deep tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848980 |
BXGD014993 |
Developmental stagnation |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849683 |
BXGD015076 |
No social interaction |
Mental Disorders |
| C1850456 |
BXGD015146 |
Progressive microcephaly |
|
| C1851936 |
BXGD015247 |
Paroxysmal choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855496 |
BXGD015502 |
Contiguous gene syndrome |
|
| C1857483 |
BXGD015707 |
Decreased palmar creases |
|
| C1857704 |
BXGD015741 |
Abnormal myelination |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1864580 |
BXGD016235 |
Type 2 muscle fiber atrophy |
|
| C1865926 |
BXGD016357 |
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1866129 |
BXGD016375 |
Abnormality of the cerebellum |
Nervous System Diseases |
| C1866231 |
BXGD016388 |
Full cheeks |
|
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C1869117 |
BXGD016550 |
Paroxysmal nonkinesigenic dyskinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1963167 |
BXGD016686 |
Memory Impairment, CTCAE 3.0 |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2220255 |
BXGD016956 |
Motor disturbances |
|
| C2243051 |
BXGD017008 |
Large head (disorder) |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3160814 |
BXGD018477 |
Cannabis use |
|
| C3161174 |
BXGD018505 |
Hemoglobin H Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3278975 |
BXGD018749 |
Attenuation of retinal blood vessels |
|
| C3280415 |
BXGD018827 |
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA |
|
| C3281191 |
BXGD018886 |
SCN8A-related epilepsy with encephalopathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3494976 |
BXGD018977 |
Migrating partial seizures in infancy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3668822 |
BXGD019319 |
Hypermetria (finding) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806604 |
BXGD019520 |
Infantile axial hypotonia |
|
| C3839460 |
BXGD019773 |
Nonprogressive |
|
| C4014430 |
BXGD020146 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 |
|
| C4021219 |
BXGD020582 |
Multifocal epileptiform discharges |
|
| C4021975 |
BXGD020851 |
Abnormality of the tonsils |
|
| C4022761 |
BXGD020988 |
Reduced brain N-acetyl aspartate level by MRS |
|
| C4022919 |
BXGD021038 |
Appendicular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4023342 |
BXGD021158 |
Gastrostomy tube feeding in infancy |
|
| C4023491 |
BXGD021203 |
Interictal epileptiform activity |
|
| C4023687 |
BXGD021243 |
EEG with multifocal slow activity |
|
| C4024934 |
BXGD021484 |
Cerebellar medulloblastoma |
Neoplasms |
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4082299 |
BXGD022088 |
Bulbar palsy |
Nervous System Diseases |
| C4310728 |
BXGD022641 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 |
|
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317109 |
BXGD022725 |
Epileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317146 |
BXGD022730 |
Acid reflux |
|
| C4477055 |
BXGD022912 |
Limb myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4505072 |
BXGD022953 |
Epileptic Syndromes |
Nervous System Diseases |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4551686 |
BXGD023391 |
Malignant neoplasm of soft tissue |
Neoplasms |
| C4552072 |
BXGD023482 |
X-linked infantile spasms |
Nervous System Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4553765 |
BXGD023551 |
Memory Impairment, CTCAE 5.0 |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4692845 |
BXGD023591 |
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO |
|
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |