| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0007570 |
BXGD000467 |
Celiac Disease |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0009447 |
BXGD000613 |
Common Variable Immunodeficiency |
Immune System Diseases |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| 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 |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; 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 |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0021053 |
BXGD001476 |
Immune System Diseases |
Immune System Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024440 |
BXGD001774 |
Macular Edema, Cystoid |
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 |
| 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 |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0033860 |
BXGD002438 |
Psoriasis |
Skin and Connective Tissue Diseases |
| C0035305 |
BXGD002529 |
Retinal Detachment |
Eye 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 |
| C0038013 |
BXGD002725 |
Ankylosing spondylitis |
Musculoskeletal Diseases |
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149745 |
BXGD003356 |
Oral Ulcer |
Stomatognathic Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152200 |
BXGD003557 |
Achromatopsia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0154832 |
BXGD003747 |
Exudative retinopathy |
Eye Diseases; Cardiovascular Diseases |
| C0154835 |
BXGD003748 |
Retinal telangiectasia |
Cardiovascular Diseases |
| C0154860 |
BXGD003752 |
Hereditary retinal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0202123 |
BXGD004075 |
Luteinizing hormone measurement |
|
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0271091 |
BXGD006160 |
Retinoschisis, Juvenile, X-Linked |
Eye Diseases |
| C0271093 |
BXGD006162 |
Stargardt's disease |
|
| C0271388 |
BXGD006196 |
Pendular Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0339508 |
BXGD007256 |
Hereditary macular dystrophy |
|
| C0339526 |
BXGD007259 |
Autosomal recessive retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0339527 |
BXGD007260 |
Leber Congenital Amaurosis |
Eye Diseases |
| C0339546 |
BXGD007268 |
Retinal Pigment Epithelial Detachment |
Eye Diseases |
| C0344290 |
BXGD007662 |
Vitreoretinal degeneration |
|
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0523688 |
BXGD009216 |
Hemopexin measurement |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0730292 |
BXGD009947 |
Macular dystrophy |
Eye Diseases |
| C0730362 |
BXGD009961 |
Disorder of macula of retina |
Eye Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0871470 |
BXGD011316 |
Systolic Pressure |
|
| C0920350 |
BXGD011466 |
Autoimmune thyroiditis |
Immune System Diseases; Endocrine System Diseases |
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1285162 |
BXGD012167 |
Degenerative disorder |
Pathological Conditions, Signs and Symptoms |
| C1301509 |
BXGD012294 |
Severe visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1305855 |
BXGD012348 |
Body mass index |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1836926 |
BXGD014179 |
Bone spicule pigmentation of the retina |
|
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837352 |
BXGD014223 |
Childhood onset |
|
| C1838647 |
BXGD014329 |
RETINITIS PIGMENTOSA 12 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1848172 |
BXGD014908 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849394 |
BXGD015048 |
Enhanced S-Cone Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1849397 |
BXGD015049 |
Retinoschisis of Fovea |
Eye Diseases |
| C1849792 |
BXGD015085 |
Achromatopsia 3 |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1855465 |
BXGD015498 |
STARGARDT DISEASE 1 (disorder) |
|
| C1855676 |
BXGD015528 |
Aplasia/Hypoplasia of the cerebellar vermis |
|
| C1855685 |
BXGD015531 |
Undetectable electroretinogram |
|
| C1855925 |
BXGD015561 |
Hyperopia, High |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1858080 |
BXGD015768 |
Retinal Dystrophy, Early Onset Severe |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1868310 |
BXGD016496 |
Pigmented Paravenous Chorioretinal Atrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1998028 |
BXGD016865 |
Photoreceptor degeneration |
Eye Diseases |
| C2239219 |
BXGD016966 |
von Willebrand's factor (lab test) |
|
| C2931258 |
BXGD017991 |
Amaurosis congenita of Leber, type 1 |
Eye Diseases |
| C2932677 |
BXGD018097 |
Idiopathic Juxtafoveal Retinal Telangiectasia |
Eye Diseases; Cardiovascular Diseases |
| C3150797 |
BXGD018337 |
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 |
|
| C3151202 |
BXGD018406 |
LEBER CONGENITAL AMAUROSIS 8 |
|
| C3275758 |
BXGD018675 |
Choriocapillaris atrophy |
|
| C3489532 |
BXGD018934 |
Cone-Rod Dystrophy 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3495559 |
BXGD018994 |
Juvenile arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C3540662 |
BXGD019091 |
Congenital Amaurosis of Retinal Origin |
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 |
|
| C3888198 |
BXGD019958 |
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4014795 |
BXGD020166 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 |
|
| C4021786 |
BXGD020779 |
Atypical scarring of skin |
Pathological Conditions, Signs and Symptoms |
| C4024818 |
BXGD021428 |
Progressive night blindness |
Eye Diseases |
| C4072868 |
BXGD022007 |
Paravenous chorioretinal atrophy |
|
| C4085590 |
BXGD022119 |
Cone-Rod Dystrophies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4310768 |
BXGD022658 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 |
|
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|