| C0009398 |
BXGD000604 |
Color vision defect |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0015398 |
BXGD000984 |
Eye Diseases, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C0024440 |
BXGD001774 |
Macular Edema, Cystoid |
Eye Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028077 |
BXGD002069 |
Nyctalopia |
Eye 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 |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0035333 |
BXGD002538 |
Retinitis |
Eye Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036454 |
BXGD002616 |
Scotoma |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0042164 |
BXGD002965 |
Uveitis |
Eye 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 |
| C0152191 |
BXGD003556 |
Scotoma, Central |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0205710 |
BXGD004112 |
Alpers Syndrome (disorder) |
Immune System Diseases; Nervous System Diseases |
| C0239119 |
BXGD004963 |
Lenticonus |
|
| C0241688 |
BXGD005107 |
Peripheral visual field loss |
|
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0311338 |
BXGD006878 |
Fundus Albipunctatus |
Eye Diseases |
| C0339526 |
BXGD007259 |
Autosomal recessive retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0423420 |
BXGD008483 |
Absent foveal reflex |
|
| C0423421 |
BXGD008484 |
Atrophic macular change |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0730290 |
BXGD009946 |
Cone Dystrophy |
Eye Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C1288283 |
BXGD012175 |
Atrophoderma maculatum |
Skin and Connective Tissue Diseases |
| C1405854 |
BXGD013028 |
Retinitis punctata albescens (disorder) |
Eye Diseases |
| C1568247 |
BXGD013418 |
Usher Syndrome, Type I |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1839364 |
BXGD014371 |
Progressive visual loss |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843815 |
BXGD014608 |
Newfoundland Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1843816 |
BXGD014609 |
Bothnia Retinal Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1857644 |
BXGD015728 |
Retinal pigment epithelial mottling |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1865866 |
BXGD016345 |
Congenital sensorineural hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2751492 |
BXGD017718 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2931205 |
BXGD017977 |
Usher syndrome, type 1A |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C3151111 |
BXGD018397 |
Abnormal light- and dark-adapted electroretinogram |
|
| C3278975 |
BXGD018749 |
Attenuation of retinal blood vessels |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021786 |
BXGD020779 |
Atypical scarring of skin |
Pathological Conditions, Signs and Symptoms |
| C4024760 |
BXGD021408 |
Progressive visual field defects |
|
| C4024818 |
BXGD021428 |
Progressive night blindness |
Eye Diseases |
| C4072991 |
BXGD022029 |
Yellow/white lesions of the retina |
|
| C4551633 |
BXGD023378 |
Pigmentary retinal dystrophy |
Eye Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4703439 |
BXGD023647 |
Abnormality of fundus pigmentation |
|