| C0009398 |
BXGD000604 |
Color vision defect |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous 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 |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028077 |
BXGD002069 |
Nyctalopia |
Eye Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0154860 |
BXGD003752 |
Hereditary retinal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0162666 |
BXGD003967 |
Mitochondrial Encephalomyopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0235095 |
BXGD004723 |
Visual field constriction |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0271388 |
BXGD006196 |
Pendular Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0339525 |
BXGD007258 |
Autosomal dominant retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0339527 |
BXGD007260 |
Leber Congenital Amaurosis |
Eye Diseases |
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0410000 |
BXGD008406 |
Overlap syndrome |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0423421 |
BXGD008484 |
Atrophic macular change |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0730290 |
BXGD009946 |
Cone Dystrophy |
Eye Diseases |
| C0730362 |
BXGD009961 |
Disorder of macula of retina |
Eye Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0917796 |
BXGD011408 |
Optic Atrophy, Hereditary, Leber |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C1285162 |
BXGD012167 |
Degenerative disorder |
Pathological Conditions, Signs and Symptoms |
| C1288283 |
BXGD012175 |
Atrophoderma maculatum |
Skin and Connective Tissue 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 |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1854065 |
BXGD015379 |
LATE-ONSET RETINAL DEGENERATION (disorder) |
Eye Diseases |
| C1855676 |
BXGD015528 |
Aplasia/Hypoplasia of the cerebellar vermis |
|
| C1858386 |
BXGD015786 |
Leber Congenital Amaurosis 4 |
Eye Diseases |
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1879328 |
BXGD016573 |
Blindness both eyes NOS (disorder) |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1998028 |
BXGD016865 |
Photoreceptor degeneration |
Eye Diseases |
| C2751763 |
BXGD017737 |
Retinitis Pigmentosa, Juvenile, Aipl1-Related |
Eye Diseases |
| C2751764 |
BXGD017738 |
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) |
Eye Diseases |
| C2931258 |
BXGD017991 |
Amaurosis congenita of Leber, type 1 |
Eye Diseases |
| C2931387 |
BXGD018015 |
Leber congenital amaurosis, type 4 |
Eye Diseases |
| C3278975 |
BXGD018749 |
Attenuation of retinal blood vessels |
|
| C3489532 |
BXGD018934 |
Cone-Rod Dystrophy 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System 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 |
|
| C4021570 |
BXGD020678 |
Undetectable light- and dark-adapted electroretinogram |
|
| C4085590 |
BXGD022119 |
Cone-Rod Dystrophies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4703439 |
BXGD023647 |
Abnormality of fundus pigmentation |
|