| C0002514 |
BXGD000118 |
Amino Acid Metabolism, Inborn Errors |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0015230 |
BXGD000969 |
Exanthema |
Skin and Connective Tissue Diseases |
| C0017574 |
BXGD001122 |
Gingivitis |
Infections; Stomatognathic Diseases |
| C0017675 |
BXGD001146 |
Glossitis |
Stomatognathic Diseases |
| C0018524 |
BXGD001200 |
Hallucinations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0018609 |
BXGD001208 |
Hartnup Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024523 |
BXGD001781 |
Malabsorption Syndrome |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0031485 |
BXGD002303 |
Phenylketonurias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0033975 |
BXGD002447 |
Psychotic Disorders |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0085407 |
BXGD003167 |
Microsporidiosis |
Infections |
| C0085633 |
BXGD003216 |
Mood swings |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268534 |
BXGD005975 |
Prolinuria |
|
| C0268654 |
BXGD006025 |
Iminoglycinuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0427460 |
BXGD008616 |
Red cell distribution width determination |
|
| C0522153 |
BXGD009192 |
Urine Discoloration |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0543541 |
BXGD009285 |
HYPERGLYCINURIA (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0948585 |
BXGD011541 |
Hydroxyprolinuria |
|
| C1304746 |
BXGD012343 |
RDW - Red blood cell distribution width result |
|
| C1720189 |
BXGD013668 |
Episodic Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1833683 |
BXGD013938 |
NEPHROLITHIASIS, CALCIUM OXALATE |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1836735 |
BXGD014155 |
hypopigmented skin patch |
Skin and Connective Tissue Diseases |
| C1856194 |
BXGD015584 |
Neutral hyperaminoaciduria |
|
| C1860236 |
BXGD015969 |
Irregular hyperpigmentation |
Skin and Connective Tissue Diseases |
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2132198 |
BXGD016930 |
Abnormal blistering of the skin |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3148959 |
BXGD018273 |
IMINOGLYCINURIA, DIGENIC |
|
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4316870 |
BXGD022707 |
Abnormality of the eye |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|