| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000786 |
BXGD000010 |
Spontaneous abortion |
Female Urogenital Diseases and Pregnancy Complications |
| C0002452 |
BXGD000116 |
Amelogenesis Imperfecta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004144 |
BXGD000259 |
Atelectasis |
Respiratory Tract Diseases |
| C0006267 |
BXGD000383 |
Bronchiectasis |
Respiratory Tract Diseases |
| C0008677 |
BXGD000560 |
Bronchitis, Chronic |
Infections; Respiratory Tract Diseases |
| C0008780 |
BXGD000571 |
Ciliary Motility Disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0009080 |
BXGD000580 |
Clubbed Fingers |
Musculoskeletal Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0009398 |
BXGD000604 |
Color vision defect |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010036 |
BXGD000642 |
Corneal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010200 |
BXGD000653 |
Coughing |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011884 |
BXGD000762 |
Diabetic Retinopathy |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018520 |
BXGD001197 |
Halitosis |
Pathological Conditions, Signs and Symptoms |
| C0018681 |
BXGD001214 |
Headache |
Pathological Conditions, Signs and Symptoms |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018780 |
BXGD001218 |
Hearing Loss, High-Frequency |
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 |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020429 |
BXGD001378 |
Hyperalgesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0021359 |
BXGD001498 |
Infertility |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022521 |
BXGD001549 |
Kartagener Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0023976 |
BXGD001724 |
Long QT Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024437 |
BXGD001772 |
Macular degeneration |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027430 |
BXGD001988 |
Nasal Polyps |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; 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 |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029882 |
BXGD002177 |
Otitis Media |
Otorhinolaryngologic Diseases |
| C0029883 |
BXGD002178 |
Otitis Media with Effusion |
Otorhinolaryngologic Diseases |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0032987 |
BXGD002386 |
Ectopic Pregnancy |
Female Urogenital Diseases and Pregnancy Complications |
| C0035243 |
BXGD002522 |
Respiratory Tract Infections |
Infections; Respiratory Tract 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 |
| C0035455 |
BXGD002554 |
Rhinitis |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0039128 |
BXGD002794 |
Syphilis |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0041912 |
BXGD002937 |
Upper Respiratory Infections |
Infections; Respiratory Tract 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 |
| C0149516 |
BXGD003324 |
Chronic sinusitis |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0151514 |
BXGD003429 |
Atrophic condition of skin |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue 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 |
| C0152200 |
BXGD003557 |
Achromatopsia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0152439 |
BXGD003593 |
Retinoschisis |
Eye Diseases |
| C0154860 |
BXGD003752 |
Hereditary retinal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0155360 |
BXGD003788 |
Staphyloma posticum |
Eye Diseases |
| C0220701 |
BXGD004325 |
RETINITIS PIGMENTOSA 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0231835 |
BXGD004527 |
Tachypnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| 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 |
| C0268542 |
BXGD005977 |
Ornithine carbamoyltransferase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0271093 |
BXGD006162 |
Stargardt's disease |
|
| C0271097 |
BXGD006163 |
Usher Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0271183 |
BXGD006169 |
Severe myopia |
Eye Diseases |
| C0271388 |
BXGD006196 |
Pendular Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0271441 |
BXGD006203 |
Chronic otitis media |
Otorhinolaryngologic Diseases |
| C0339508 |
BXGD007256 |
Hereditary macular dystrophy |
|
| 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 |
| C0339528 |
BXGD007261 |
X-linked retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0339535 |
BXGD007263 |
Night blindness, congenital stationary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0339537 |
BXGD007264 |
Cone monochromatism |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0403553 |
BXGD008293 |
Renal dysplasia and retinal aplasia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases |
| C0403823 |
BXGD008315 |
Asthenozoospermia |
Male Urogenital Diseases |
| C0423428 |
BXGD008485 |
Scarred macula |
Pathological Conditions, Signs and Symptoms |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0559470 |
BXGD009471 |
Allergy to peanuts |
Immune System Diseases |
| C0600031 |
BXGD009681 |
Congenital absence of spleen |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0600260 |
BXGD009701 |
Lung Diseases, Obstructive |
Respiratory Tract Diseases |
| C0730290 |
BXGD009946 |
Cone Dystrophy |
Eye Diseases |
| C0730292 |
BXGD009947 |
Macular dystrophy |
Eye Diseases |
| C0741796 |
BXGD010041 |
Recurrent bronchitis |
Infections; Respiratory Tract Diseases |
| C0848676 |
BXGD010883 |
Subfertility, Male |
Male Urogenital Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0858618 |
BXGD011184 |
Dyschromatopsia |
|
| C0863094 |
BXGD011271 |
Recurrent respiratory tract infections |
|
| C0869220 |
BXGD011305 |
Adverse effects, not elsewhere classified |
|
| C0871189 |
BXGD011312 |
Psychotic symptom |
|
| 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 |
| C1320640 |
BXGD012427 |
Peripheral retinal degeneration |
Eye Diseases |
| C1333112 |
BXGD012597 |
Colorectal Intraepithelial Neoplasia |
Digestive System Diseases; Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1839364 |
BXGD014371 |
Progressive visual loss |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840457 |
BXGD014472 |
Retinal pigment epithelial atrophy |
|
| C1844776 |
BXGD014674 |
CONE-ROD DYSTROPHY, X-LINKED, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1844777 |
BXGD014675 |
CONE DYSTROPHY, X-LINKED, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1845667 |
BXGD014756 |
RETINITIS PIGMENTOSA 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1848172 |
BXGD014908 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1854065 |
BXGD015379 |
LATE-ONSET RETINAL DEGENERATION (disorder) |
Eye Diseases |
| C1855465 |
BXGD015498 |
STARGARDT DISEASE 1 (disorder) |
|
| C1855496 |
BXGD015502 |
Contiguous gene syndrome |
|
| C1855672 |
BXGD015527 |
Immotile cilia |
|
| C1856883 |
BXGD015649 |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1998028 |
BXGD016865 |
Photoreceptor degeneration |
Eye Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2673946 |
BXGD017234 |
Foveal hypoplasia (finding) |
|
| C2681923 |
BXGD017424 |
RETINITIS PIGMENTOSA 2 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C2749137 |
BXGD017615 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Eye Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C3151784 |
BXGD018450 |
MACULAR DEGENERATION, X-LINKED ATROPHIC |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| 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 |
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C4015344 |
BXGD020202 |
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER |
|
| C4016579 |
BXGD020343 |
RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021786 |
BXGD020779 |
Atypical scarring of skin |
Pathological Conditions, Signs and Symptoms |
| C4024799 |
BXGD021424 |
Granular macular appearance |
|
| C4024818 |
BXGD021428 |
Progressive night blindness |
Eye Diseases |
| C4025204 |
BXGD021590 |
Recurrent Haemophilus influenzae infections |
|
| C4085590 |
BXGD022119 |
Cone-Rod Dystrophies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4317124 |
BXGD022728 |
Polynesian Bronchiectasis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases |
| C4551493 |
BXGD023318 |
Situs inversus totalis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4551720 |
BXGD023400 |
Primary Ciliary Dyskinesia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C4551906 |
BXGD023439 |
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4703436 |
BXGD023646 |
Impaired nasal mucociliary clearance |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
