| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0016506 |
BXGD001062 |
Foot Deformities |
Musculoskeletal Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0026703 |
BXGD001919 |
Mucopolysaccharidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0079504 |
BXGD003080 |
Hermanski-Pudlak Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C0086795 |
BXGD003311 |
Pfaundler-Hurler Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0151332 |
BXGD003415 |
Active tuberculosis |
Infections |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0241165 |
BXGD005083 |
Thick skin |
|
| C0242994 |
BXGD005205 |
Hantavirus Infections |
Infections |
| C0277959 |
BXGD006487 |
Coarse hair |
|
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837256 |
BXGD014212 |
Macrovesicular hepatic steatosis |
Digestive System Diseases |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854718 |
BXGD015427 |
J-shaped sella turcica |
|
| C1858395 |
BXGD015789 |
Tubular atrophy |
|
| C1859722 |
BXGD015925 |
Arthrogryposis, renal dysfunction, and cholestasis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C1865841 |
BXGD016343 |
Flared iliac wings |
|
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C4310627 |
BXGD022605 |
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME |
|
| C4521759 |
BXGD023067 |
Tubular Atrophy Assessment |
|
| C4551649 |
BXGD023382 |
Congenital Dysplasia Of The Hip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |