| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0005747 |
BXGD000332 |
Blepharospasm |
Eye Diseases |
| C0007789 |
BXGD000488 |
Cerebral Palsy |
Nervous System Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013423 |
BXGD000838 |
Dystonia Musculorum Deformans |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
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 |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0034152 |
BXGD002467 |
Henoch-Schoenlein Purpura |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037773 |
BXGD002704 |
Spastic Paraplegia, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0040485 |
BXGD002871 |
Torticollis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0152244 |
BXGD003571 |
Bone Cysts, Aneurysmal |
Neoplasms; Musculoskeletal Diseases |
| C0205711 |
BXGD004113 |
Pelizaeus-Merzbacher Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0231471 |
BXGD004494 |
Abnormal posture |
Nervous System Diseases |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0234979 |
BXGD004707 |
Dysdiadochokinesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0268575 |
BXGD005993 |
Isovaleryl-CoA dehydrogenase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0393556 |
BXGD008089 |
Complicated hereditary spastic paraplegia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| 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 |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0677932 |
BXGD009736 |
Progressive Neoplastic Disease |
|
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0742028 |
BXGD010051 |
Cerebellar vermis atrophy |
|
| C0751093 |
BXGD010317 |
Dystonia, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752203 |
BXGD010692 |
Dystonia, Primary |
Nervous System Diseases |
| C0752207 |
BXGD010695 |
Familial Dystonia |
Nervous System Diseases |
| C0949445 |
BXGD011575 |
Cervical Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1527344 |
BXGD013275 |
Dysphonia |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837463 |
BXGD014235 |
Narrow face |
|
| C1842364 |
BXGD014511 |
Central hypotonia |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848954 |
BXGD014989 |
Generalized dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1850573 |
BXGD015154 |
Slender build |
Pathological Conditions, Signs and Symptoms |
| C1851943 |
BXGD015248 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1853237 |
BXGD015319 |
Isolated cases |
|
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1860315 |
BXGD015976 |
Whispering dysphonia, hereditary |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1867138 |
BXGD016442 |
Upper limb postural tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1955869 |
BXGD016612 |
Malformations of Cortical Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1963946 |
BXGD016707 |
Laryngeal dystonia |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1997740 |
BXGD016863 |
Segmental dystonia |
Nervous System Diseases |
| C2676244 |
BXGD017329 |
Leukodystrophy, Hypomyelinating, 6 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2677328 |
BXGD017371 |
Cerebral hypomyelination |
|
| C2750737 |
BXGD017675 |
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3539781 |
BXGD019086 |
Progressive cGVHD |
|
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3888090 |
BXGD019948 |
Early onset torsion dystonia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4022595 |
BXGD020933 |
Tetraplegia/tetraparesis |
|
| C4022745 |
BXGD020977 |
Abnormal basal ganglia MRI signal intensity |
|
| C4024154 |
BXGD021291 |
Sunken cheeks |
|
| C4025569 |
BXGD021668 |
Eunuchoid habitus |
Pathological Conditions, Signs and Symptoms |
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4025882 |
BXGD021843 |
Movement abnormality of the tongue |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4520981 |
BXGD023051 |
Abnormality of the basal ganglia |
|
| C4551521 |
BXGD023337 |
Kinetic tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|