| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004158 |
BXGD000261 |
Athetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007384 |
BXGD000463 |
Cataplexy |
Nervous System Diseases; Mental Disorders |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0007760 |
BXGD000476 |
Cerebellar Diseases |
Nervous System Diseases |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009952 |
BXGD000639 |
Febrile Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0012569 |
BXGD000777 |
Diplopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013405 |
BXGD000834 |
Dyspnea, Paroxysmal |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014556 |
BXGD000932 |
Epilepsy, Temporal Lobe |
Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0018564 |
BXGD001204 |
Hand deformities |
Musculoskeletal Diseases |
| C0018681 |
BXGD001214 |
Headache |
Pathological Conditions, Signs and Symptoms |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0024591 |
BXGD001789 |
Malignant hyperpyrexia due to anesthesia |
Pathological Conditions, Signs and Symptoms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
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 |
| C0027125 |
BXGD001975 |
Myotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027497 |
BXGD001993 |
Nausea |
Pathological Conditions, Signs and Symptoms |
| C0027854 |
BXGD002050 |
Neurologic Manifestations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041960 |
BXGD002943 |
Ureterocele |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042571 |
BXGD002991 |
Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0085271 |
BXGD003148 |
Self-Injurious Behavior |
Behavior and Behavior Mechanisms |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151723 |
BXGD003466 |
Hypomagnesemia |
Nutritional and Metabolic Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0231687 |
BXGD004509 |
Spastic gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| 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 |
| C0234518 |
BXGD004683 |
Slurred speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235831 |
BXGD004773 |
Renal Cell Dysplasia |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0239594 |
BXGD004987 |
Short finger |
|
| C0239815 |
BXGD004996 |
Hand clenching |
|
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242287 |
BXGD005145 |
Isaacs syndrome |
Musculoskeletal Diseases; Nervous System Diseases |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0270824 |
BXGD006113 |
Visual seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270846 |
BXGD006116 |
Epileptic drop attack |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270851 |
BXGD006118 |
Benign neonatal epilepsy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0270862 |
BXGD006125 |
Hemiplegic migraine |
Nervous System Diseases |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344232 |
BXGD007659 |
Blurred vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0375023 |
BXGD007970 |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site |
|
| C0393576 |
BXGD008096 |
Chorea Acanthocytosis Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0393706 |
BXGD008126 |
Early infantile epileptic encephalopathy with suppression bursts |
Nervous System Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0476403 |
BXGD008992 |
Electromyogram abnormal |
|
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0520966 |
BXGD009128 |
Abnormal coordination |
Pathological Conditions, Signs and Symptoms; 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 |
| C0544645 |
BXGD009309 |
Focal Sensory Seizure |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0563243 |
BXGD009479 |
Poor coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0598275 |
BXGD009664 |
Diffuse cerebral atrophy |
Nervous System Diseases; Mental Disorders |
| C0598589 |
BXGD009667 |
Inherited neuropathies |
Nervous System Diseases |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684219 |
BXGD009789 |
Myokymia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0748607 |
BXGD010201 |
Recurrent seizure |
Nervous System Diseases |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1557375 |
BXGD013360 |
Blurred Vision, CTCAE |
|
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1719788 |
BXGD013661 |
Episodic ataxia type 1 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1720189 |
BXGD013668 |
Episodic Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1720416 |
BXGD013672 |
Episodic ataxia type 2 (disorder) |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1834559 |
BXGD013979 |
Continuous Muscle Fiber Activity, Hereditary |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836508 |
BXGD014124 |
Generalized tonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843057 |
BXGD014552 |
Calf muscle hypertrophy |
|
| C1843570 |
BXGD014595 |
Tip-toe gait |
|
| C1843921 |
BXGD014620 |
Postural instability |
Nervous System Diseases |
| C1844548 |
BXGD014642 |
Hypoplastic finger |
|
| C1844906 |
BXGD014692 |
Broad finger |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854387 |
BXGD015396 |
Type 1 muscle fiber predominance |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1867114 |
BXGD016439 |
Craniofacial disproportion |
|
| C1868682 |
BXGD016525 |
Paroxysmal kinesigenic choreoathetosis |
Nervous System Diseases |
| C1956415 |
BXGD016635 |
Paroxysmal nocturnal dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases |
| C1969156 |
BXGD016761 |
EEG with burst suppression |
|
| C2674766 |
BXGD017259 |
Myokymia 1 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2677843 |
BXGD017389 |
Episodic Ataxia, Type 7 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3502809 |
BXGD019049 |
Generalized Epilepsy with Febrile Seizures Plus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3536714 |
BXGD019069 |
Renal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4016334 |
BXGD020310 |
MYOKYMIA 1 WITH HYPOMAGNESEMIA |
|
| C4022849 |
BXGD021012 |
Absent thumbnail |
|
| C4023484 |
BXGD021201 |
Uni- and bilateral multifocal epileptiform discharges |
|
| C4023499 |
BXGD021204 |
Generalized clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4023683 |
BXGD021240 |
EEG with spike-wave complexes |
|
| C4023986 |
BXGD021282 |
Broad phalanx of the toes |
|
| C4024923 |
BXGD021476 |
Diffuse white matter abnormalities |
Pathological Conditions, Signs and Symptoms |
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4049830 |
BXGD021953 |
Focal seizures, afebril |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4316810 |
BXGD022702 |
Writer's Cramp |
Nervous System Diseases |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4511005 |
BXGD022994 |
Autosomal dominant primary hypomagnesemia with hypocalciuria |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4552000 |
BXGD023473 |
Episodic Kinesigenic Dyskinesia 1 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|