| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0017639 |
BXGD001133 |
Gliosis |
Pathological Conditions, Signs and Symptoms |
| C0017661 |
BXGD001139 |
IGA Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0017921 |
BXGD001152 |
Glycogen storage disease type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020555 |
BXGD001431 |
Hypertrichosis |
Skin and Connective Tissue Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0024748 |
BXGD001800 |
alpha-Mannosidosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
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 |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038016 |
BXGD002727 |
Spondylolisthesis |
Musculoskeletal Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0750937 |
BXGD010259 |
Ataxia, Appendicular |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1257960 |
BXGD011817 |
Mannosidase Deficiency Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1836855 |
BXGD014170 |
Vacuolated lymphocytes |
|
| C1837402 |
BXGD014228 |
Flat occiput |
|
| C1837458 |
BXGD014233 |
Impaired smooth pursuit |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1844383 |
BXGD014628 |
Recurrent bacterial infection |
Infections |
| C1844813 |
BXGD014679 |
Widely spaced teeth |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1855114 |
BXGD015460 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1855418 |
BXGD015495 |
Thoracolumbar kyphosis |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858452 |
BXGD015796 |
Thickened calvaria |
|
| C1859461 |
BXGD015895 |
Femoral bowing |
Musculoskeletal Diseases |
| C1864853 |
BXGD016261 |
Increased vertebral height |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4024919 |
BXGD021473 |
Spinocerebellar tract disease in lower limbs |
|
| C4025763 |
BXGD021783 |
Abnormality of the rib cage |
|
| C4048270 |
BXGD021897 |
Decreased antibody level in blood |
|
| C4317149 |
BXGD022731 |
Vacuolated Lymphocyte Count |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|