| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0014065 |
BXGD000884 |
Congenital cerebral hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0311338 |
BXGD006878 |
Fundus Albipunctatus |
Eye Diseases |
| C0339525 |
BXGD007258 |
Autosomal dominant retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0339526 |
BXGD007259 |
Autosomal recessive retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0339527 |
BXGD007260 |
Leber Congenital Amaurosis |
Eye Diseases |
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C1288283 |
BXGD012175 |
Atrophoderma maculatum |
Skin and Connective Tissue Diseases |
| C1301509 |
BXGD012294 |
Severe visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1855676 |
BXGD015528 |
Aplasia/Hypoplasia of the cerebellar vermis |
|
| C1858080 |
BXGD015768 |
Retinal Dystrophy, Early Onset Severe |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2675186 |
BXGD017277 |
LEBER CONGENITAL AMAUROSIS 13 |
Eye Diseases |
| C2931258 |
BXGD017991 |
Amaurosis congenita of Leber, type 1 |
Eye Diseases |
| C3150208 |
BXGD018298 |
RETINITIS PIGMENTOSA 53 |
|
| C3489532 |
BXGD018934 |
Cone-Rod Dystrophy 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3808249 |
BXGD019541 |
Abnormality of the optic disc |
|
| C4021786 |
BXGD020779 |
Atypical scarring of skin |
Pathological Conditions, Signs and Symptoms |
| C4024818 |
BXGD021428 |
Progressive night blindness |
Eye Diseases |
| C4085590 |
BXGD022119 |
Cone-Rod Dystrophies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4316870 |
BXGD022707 |
Abnormality of the eye |
|
| C4551633 |
BXGD023378 |
Pigmentary retinal dystrophy |
Eye Diseases |
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4703503 |
BXGD023654 |
Mild hypermetropia |
Eye Diseases |