| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine 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 |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0037822 |
BXGD002706 |
Speech Disorders |
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 |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220697 |
BXGD004324 |
POLYDACTYLY, POSTAXIAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235095 |
BXGD004723 |
Visual field constriction |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0266295 |
BXGD005645 |
Congenital hypoplasia of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0333516 |
BXGD006957 |
Tumor necrosis |
Pathological Conditions, Signs and Symptoms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0392514 |
BXGD008051 |
Hereditary hemochromatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0398791 |
BXGD008233 |
Nijmegen Breakage Syndrome |
Nutritional and Metabolic Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0685840 |
BXGD009821 |
Congenital hypoplasia of ovary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0730290 |
BXGD009946 |
Cone Dystrophy |
Eye Diseases |
| C0752166 |
BXGD010684 |
Bardet-Biedl Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1408258 |
BXGD013037 |
Kidney damage |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1844562 |
BXGD014645 |
Medial flaring of the eyebrow |
|
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1855333 |
BXGD015489 |
External genital hypoplasia |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1859564 |
BXGD015910 |
Bardet-Biedl syndrome 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2675305 |
BXGD017283 |
BARDET-BIEDL SYNDROME 1, MODIFIER OF |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2936862 |
BXGD018148 |
Bardet-Biedl syndrome 1 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C3150808 |
BXGD018340 |
RETINITIS PIGMENTOSA 55 |
|
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| 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 |
| C4024818 |
BXGD021428 |
Progressive night blindness |
Eye Diseases |
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551492 |
BXGD023317 |
Micropenis |
|
| 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 |
|