| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009024 |
BXGD000578 |
Clonus |
Pathological Conditions, Signs and Symptoms; 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 |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023882 |
BXGD001710 |
Little's Disease |
Nervous System Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027746 |
BXGD002032 |
Nerve Degeneration |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038450 |
BXGD002759 |
Stridor |
Pathological Conditions, Signs and Symptoms |
| C0043094 |
BXGD003026 |
Weight Gain |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151891 |
BXGD003499 |
Retinal depigmentation |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases |
| C0232462 |
BXGD004542 |
Decrease in appetite |
Digestive System Diseases; Nervous System Diseases; Mental Disorders |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239815 |
BXGD004996 |
Hand clenching |
|
| C0241910 |
BXGD005123 |
Autoimmune Chronic Hepatitis |
Digestive System Diseases; Immune System Diseases |
| C0262665 |
BXGD005267 |
Abnormal vocal cord morphology |
|
| C0266468 |
BXGD005677 |
Congenital pontocerebellar hypoplasia |
Nervous System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0276434 |
BXGD006424 |
Acute type A viral hepatitis |
Digestive System Diseases; Infections |
| C0332615 |
BXGD006898 |
Myopathic facies |
|
| 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 |
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0860207 |
BXGD011220 |
Drug-Induced Liver Disease |
Digestive System Diseases; Chemically-Induced Disorders |
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1321325 |
BXGD012429 |
Elliptical nystagmus |
Eye Diseases; Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1839630 |
BXGD014391 |
Severe muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1850055 |
BXGD015102 |
PEHO syndrome |
Eye Diseases; Nervous System Diseases |
| C1850056 |
BXGD015103 |
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome |
Eye Diseases; Nervous System Diseases |
| C1850456 |
BXGD015146 |
Progressive microcephaly |
|
| C1855330 |
BXGD015487 |
Cerebral hypoplasia |
|
| C1858025 |
BXGD015760 |
Spinal rigidity |
|
| C1969879 |
BXGD016799 |
Limb joint contracture |
|
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2673431 |
BXGD017202 |
Abnormality of the periventricular white matter |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2677328 |
BXGD017371 |
Cerebral hypomyelination |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2932714 |
BXGD018099 |
Pontocerebellar Hypoplasia Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3151140 |
BXGD018399 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D |
|
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3808046 |
BXGD019538 |
Breathing dysregulation |
|
| C3808249 |
BXGD019541 |
Abnormality of the optic disc |
|
| C3887784 |
BXGD019920 |
Decreased urine output |
|
| C4021216 |
BXGD020580 |
EEG with persistent abnormal rhythmic activity |
|
| C4023342 |
BXGD021158 |
Gastrostomy tube feeding in infancy |
|
| C4025701 |
BXGD021741 |
Abnormality of the cerebral cortex |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4048329 |
BXGD021904 |
Immunosuppression |
|
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4721555 |
BXGD023755 |
Autoimmune hepatitis |
Digestive System Diseases |