| C0003126 |
BXGD000180 |
Anosmia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018794 |
BXGD001222 |
Heart Block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0020580 |
BXGD001435 |
Hypesthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0024143 |
BXGD001741 |
Lupus Nephritis |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026205 |
BXGD001891 |
Miosis disorder |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0026760 |
BXGD001927 |
Multiple Epiphyseal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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 |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034960 |
BXGD002499 |
Refsum Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
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 |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0162309 |
BXGD003934 |
Adrenoleukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0375206 |
BXGD007973 |
Hemiplegia/hemiparesis |
|
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0497552 |
BXGD009067 |
Congenital neurologic anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0587246 |
BXGD009616 |
Muscle weakness of limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0598589 |
BXGD009667 |
Inherited neuropathies |
Nervous System Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1136179 |
BXGD011712 |
Hammer Toe |
Musculoskeletal Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1720802 |
BXGD013682 |
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1806780 |
BXGD013759 |
Increased CSF protein |
|
| C1834405 |
BXGD013970 |
Nail dysplasia |
Pathological Conditions, Signs and Symptoms |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837084 |
BXGD014195 |
Short metacarpal |
|
| C1839364 |
BXGD014371 |
Progressive visual loss |
|
| C1848514 |
BXGD014931 |
Short fourth metatarsal |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1962966 |
BXGD016678 |
Retinopathy, CTCAE |
|
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2749345 |
BXGD017618 |
Refsum Disease, Adult, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2750440 |
BXGD017660 |
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 |
|
| C2750441 |
BXGD017661 |
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 |
|
| C3150651 |
BXGD018316 |
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 |
|
| C3279947 |
BXGD018789 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
|
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4023786 |
BXGD021261 |
Elevated levels of phytanic acid |
|
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |