| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine 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 |
| C0016506 |
BXGD001062 |
Foot Deformities |
Musculoskeletal Diseases |
| C0018099 |
BXGD001172 |
Gout |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; 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 |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035243 |
BXGD002522 |
Respiratory Tract Infections |
Infections; Respiratory Tract Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| 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 |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0205710 |
BXGD004112 |
Alpers Syndrome (disorder) |
Immune System Diseases; Nervous System Diseases |
| C0231686 |
BXGD004508 |
Gait, Unsteady |
Pathological Conditions, Signs and Symptoms; 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 |
| C0234518 |
BXGD004683 |
Slurred speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0240991 |
BXGD005069 |
Ataxia, Sensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338474 |
BXGD007183 |
Central nervous system demyelination |
|
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0427065 |
BXGD008604 |
Distal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0427190 |
BXGD008611 |
Ataxia, Truncal |
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 |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0748903 |
BXGD010206 |
spinal cord involvement |
|
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0949857 |
BXGD011589 |
Mitochondrial Respiratory Chain Deficiencies |
Nutritional and Metabolic Diseases |
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1263857 |
BXGD011900 |
Peripheral axonal neuropathy |
Nervous System Diseases |
| C1321329 |
BXGD012430 |
Slowed saccades |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1720189 |
BXGD013668 |
Episodic Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836150 |
BXGD014082 |
Gait imbalance |
|
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1836843 |
BXGD014168 |
Progressive inability to walk |
|
| C1836904 |
BXGD014176 |
Spastic/hyperactive bladder |
|
| C1838114 |
BXGD014297 |
Generalized limb muscle atrophy |
|
| C1849134 |
BXGD015010 |
Impaired vibration sensation in the lower limbs |
|
| C1849156 |
BXGD015017 |
Spastic Ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854494 |
BXGD015409 |
Slow progression |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System 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 |
| C1859520 |
BXGD015907 |
Progressive spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1867864 |
BXGD016472 |
Poor fine motor coordination |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1969084 |
BXGD016755 |
Pontocerebellar Hypoplasia Type 6 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1969722 |
BXGD016791 |
Impaired pursuit initiation and maintenance |
|
| C1970180 |
BXGD016813 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3278204 |
BXGD018732 |
Dysmyelinating leukodystrophy |
|
| C3532239 |
BXGD019055 |
Mitochondrial cardiomyopathy |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3809008 |
BXGD019570 |
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY |
|
| C4021585 |
BXGD020687 |
Impaired distal proprioception |
|
| C4023376 |
BXGD021168 |
Abnormality of the dorsal column of the spinal cord |
|
| C4023701 |
BXGD021248 |
Impaired visuospatial constructive cognition |
|
| C4024610 |
BXGD021341 |
Leg muscle stiffness |
|
| C4025609 |
BXGD021691 |
EMG: axonal abnormality |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|