| C0002986 |
BXGD000165 |
Fabry Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0021704 |
BXGD001510 |
Intelligence |
Behavior and Behavior Mechanisms |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024236 |
BXGD001752 |
Lymphedema |
Hemic and Lymphatic Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| 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 |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; 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 |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030554 |
BXGD002239 |
Paresthesia |
Pathological Conditions, Signs and Symptoms; Nervous System 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 |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040264 |
BXGD002857 |
Tinnitus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0040921 |
BXGD002888 |
Trichomonas Infections |
Infections |
| C0042571 |
BXGD002991 |
Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151811 |
BXGD003478 |
Subcutaneous nodule |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234133 |
BXGD004624 |
Extrapyramidal sign |
|
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270724 |
BXGD006092 |
Infantile Neuroaxonal Dystrophy |
Nervous System Diseases |
| C0282160 |
BXGD006797 |
Aplasia Cutis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0332563 |
BXGD006894 |
Papule |
Pathological Conditions, Signs and Symptoms |
| C0338473 |
BXGD007182 |
Neuroaxonal Dystrophies |
Nervous System Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0427065 |
BXGD008604 |
Distal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0751716 |
BXGD010565 |
Adult Neuroaxonal Dystrophy |
Nervous System Diseases |
| C0751717 |
BXGD010566 |
Juvenile Neuroaxonal Dystrophy |
Nervous System Diseases |
| C0751718 |
BXGD010567 |
Late Infantile Neuroaxonal Dystrophy |
Nervous System Diseases |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C1263857 |
BXGD011900 |
Peripheral axonal neuropathy |
Nervous System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1389113 |
BXGD012965 |
Generalized amyotrophy |
|
| C1519353 |
BXGD013236 |
Skin Papule |
Skin and Connective Tissue Diseases |
| C1836522 |
BXGD014125 |
Schindler Disease, Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1836525 |
BXGD014126 |
White mater abnormalities in the posterior periventricular region |
Pathological Conditions, Signs and Symptoms |
| C1836527 |
BXGD014127 |
Distal sensory impairment of all modalities |
|
| C1836533 |
BXGD014128 |
Increased urinary O-linked sialopeptides |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1836544 |
BXGD014131 |
Schindler Disease, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1836545 |
BXGD014132 |
Schindler Disease, Type III |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837496 |
BXGD014240 |
Axonal degeneration |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1847584 |
BXGD014876 |
Distal sensory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1850601 |
BXGD015159 |
Abnormality of brainstem morphology |
|
| C1857697 |
BXGD015739 |
Lip telangiectasia |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4022018 |
BXGD020872 |
Telangiectasia of the skin |
Cardiovascular Diseases |
| C4024882 |
BXGD021455 |
Telangiectasia of the oral mucosa |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4048329 |
BXGD021904 |
Immunosuppression |
|
| C4316870 |
BXGD022707 |
Abnormality of the eye |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |