| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0002514 |
BXGD000118 |
Amino Acid Metabolism, Inborn Errors |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004135 |
BXGD000257 |
Ataxia Telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004936 |
BXGD000295 |
Mental disorders |
Mental Disorders |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| C0005689 |
BXGD000321 |
Bladder Exstrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009782 |
BXGD000631 |
Connective Tissue Diseases |
Skin and Connective Tissue Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0010691 |
BXGD000685 |
Cystinuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0011175 |
BXGD000701 |
Dehydration |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0011253 |
BXGD000706 |
Delusions |
Behavior and Behavior Mechanisms |
| C0011311 |
BXGD000714 |
Dengue Fever |
Infections |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011644 |
BXGD000744 |
Scleroderma |
Skin and Connective Tissue Diseases |
| C0013069 |
BXGD000796 |
Double Outlet Right Ventricle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013264 |
BXGD000808 |
Muscular Dystrophy, Duchenne |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0013404 |
BXGD000833 |
Dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0013743 |
BXGD000862 |
Eisenmenger Complex |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0014850 |
BXGD000957 |
Esophageal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016952 |
BXGD001085 |
Galactosemias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018524 |
BXGD001200 |
Hallucinations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018799 |
BXGD001224 |
Heart Diseases |
Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018834 |
BXGD001238 |
Heartburn |
Pathological Conditions, Signs and Symptoms |
| C0018991 |
BXGD001264 |
Hemiplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0019193 |
BXGD001299 |
Hepatitis, Toxic |
Digestive System Diseases; Chemically-Induced Disorders |
| C0019202 |
BXGD001302 |
Hepatolenticular Degeneration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022595 |
BXGD001562 |
Keratosis Follicularis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024408 |
BXGD001768 |
Machado-Joseph Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0024776 |
BXGD001802 |
Maple Syrup Urine Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic 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 |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030486 |
BXGD002229 |
Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031039 |
BXGD002274 |
Pericardial effusion |
Cardiovascular Diseases |
| C0031485 |
BXGD002303 |
Phenylketonurias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0033975 |
BXGD002447 |
Psychotic Disorders |
Mental Disorders |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041341 |
BXGD002918 |
Tuberous Sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0042900 |
BXGD003012 |
Vitiligo |
Skin and Connective Tissue Diseases |
| C0085271 |
BXGD003148 |
Self-Injurious Behavior |
Behavior and Behavior Mechanisms |
| C0085547 |
BXGD003182 |
Phenylketonuria, Maternal |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0152021 |
BXGD003520 |
Congenital heart disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0152101 |
BXGD003540 |
Hypoplastic Left Heart Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0152171 |
BXGD003552 |
Idiopathic pulmonary hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0162739 |
BXGD003979 |
HELLP Syndrome |
Female Urogenital Diseases and Pregnancy Complications |
| C0162835 |
BXGD003989 |
Hypopigmentation disorder |
Skin and Connective Tissue Diseases |
| C0201874 |
BXGD004054 |
Amino acids measurement |
|
| C0202174 |
BXGD004078 |
blood phenylalanine measurement by Guthrie microbiologic assay |
|
| C0202202 |
BXGD004082 |
Protein measurement |
|
| C0206062 |
BXGD004148 |
Lung Diseases, Interstitial |
Respiratory Tract Diseases |
| C0206138 |
BXGD004158 |
CREST Syndrome |
Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235527 |
BXGD004753 |
Heart Failure, Right-Sided |
Cardiovascular Diseases |
| C0239801 |
BXGD004993 |
Blonde hair |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0268138 |
BXGD005833 |
Xeroderma Pigmentosum, Complementation Group D |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0268151 |
BXGD005838 |
Classical galactosemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268461 |
BXGD005953 |
Disorder of phenylalanine metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268464 |
BXGD005954 |
Transient hyperphenylalaninemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268465 |
BXGD005955 |
Phenylketonuria II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268583 |
BXGD005997 |
Methylmalonic acidemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0339573 |
BXGD007271 |
Glaucoma, Primary Open Angle |
Eye Diseases |
| C0340543 |
BXGD007344 |
Familial primary pulmonary hypertension |
Respiratory Tract Diseases |
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0542476 |
BXGD009276 |
Forgetful |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0549397 |
BXGD009375 |
Deviated nasal septum |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0578626 |
BXGD009551 |
blue iris (physical finding) |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600104 |
BXGD009690 |
Obsessive compulsive behavior |
Behavior and Behavior Mechanisms |
| C0677932 |
BXGD009736 |
Progressive Neoplastic Disease |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0686347 |
BXGD009832 |
Tardive Dyskinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0751434 |
BXGD010439 |
Classical phenylketonuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751435 |
BXGD010440 |
Hyperphenylalaninaemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751436 |
BXGD010441 |
Hyperphenylalaninemia, Non-Phenylketonuric |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0752121 |
BXGD010669 |
Spinocerebellar Ataxia Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0853888 |
BXGD010983 |
Hypocomplementaemia |
Hemic and Lymphatic Diseases |
| C0856169 |
BXGD011096 |
Endothelial dysfunction |
|
| C0860207 |
BXGD011220 |
Drug-Induced Liver Disease |
Digestive System Diseases; Chemically-Induced Disorders |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0878676 |
BXGD011385 |
6-pyruvoyl-tetrahydropterin synthase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1096184 |
BXGD011607 |
West Nile viral infection |
Infections; Nervous System Diseases |
| C1262760 |
BXGD011886 |
Hepatitis, Drug-Induced |
Digestive System Diseases; Chemically-Induced Disorders |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1275808 |
BXGD012094 |
Congenital central hypoventilation |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1318485 |
BXGD012394 |
Liver regeneration disorder |
Digestive System Diseases |
| C1402315 |
BXGD013017 |
Vascular lesions |
|
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1701938 |
BXGD013524 |
Associated Pulmonary Arterial Hypertension |
Respiratory Tract Diseases |
| C1701939 |
BXGD013525 |
Familial pulmonary arterial hypertension |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842681 |
BXGD014530 |
Hypoplastic helices |
|
| C1847835 |
BXGD014892 |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) |
Skin and Connective Tissue Diseases |
| C1849221 |
BXGD015024 |
Fair hair |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849923 |
BXGD015088 |
Generalized hypopigmentation |
Skin and Connective Tissue Diseases |
| C1849926 |
BXGD015089 |
Phenylpyruvic acidemia |
Nutritional and Metabolic Diseases |
| C1851920 |
BXGD015246 |
Dopa-Responsive Dystonia |
Nervous System Diseases |
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1860162 |
BXGD015960 |
Bifid distal phalanx of the thumb |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865916 |
BXGD016355 |
Bilateral ptosis |
Eye Diseases |
| C1866284 |
BXGD016394 |
Motor deterioration |
Mental Disorders |
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963167 |
BXGD016686 |
Memory Impairment, CTCAE 3.0 |
|
| C2363973 |
BXGD017121 |
Chronic thromboembolic pulmonary hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C2678416 |
BXGD017409 |
Hyperphenylalaninemia, Non-Pku Mild |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2718001 |
BXGD017521 |
Protein Misfolding Disorders |
Nutritional and Metabolic Diseases |
| C2939465 |
BXGD018182 |
Deficiency of glucose-6-phosphate dehydrogenase |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3278401 |
BXGD018739 |
Hypopigmentation of hair |
|
| C3539781 |
BXGD019086 |
Progressive cGVHD |
|
| C3658290 |
BXGD019256 |
Drug-Induced Acute Liver Injury |
Digestive System Diseases; Chemically-Induced Disorders |
| C3697119 |
BXGD019352 |
Pulmonary arterial hypertension associated with congenital heart disease |
|
| C3697982 |
BXGD019364 |
Pulmonary arterial hypertension associated with connective tissue disease |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714760 |
BXGD019432 |
Drug-induced tardive dyskinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders |
| C3887658 |
BXGD019913 |
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C4021998 |
BXGD020862 |
Lack of skin elasticity |
|
| C4022014 |
BXGD020870 |
Maternal hyperphenylalaninemia |
|
| C4025094 |
BXGD021555 |
Reduced phenylalanine hydroxylase activity |
|
| C4025273 |
BXGD021616 |
Atypical hyperphenylalaninemia |
|
| C4025690 |
BXGD021734 |
Prenatal maternal abnormality |
|
| C4048329 |
BXGD021904 |
Immunosuppression |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4268744 |
BXGD022328 |
Atypical femoral fracture |
|
| C4277682 |
BXGD022376 |
Chemical and Drug Induced Liver Injury |
Digestive System Diseases; Chemically-Induced Disorders |
| C4279912 |
BXGD022378 |
Chemically-Induced Liver Toxicity |
Digestive System Diseases; Chemically-Induced Disorders |
| C4285807 |
BXGD022455 |
Behavioral and psychological symptoms of dementia |
|
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551596 |
BXGD023368 |
Abnormal renal morphology |
|
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4553765 |
BXGD023551 |
Memory Impairment, CTCAE 5.0 |
|
| C4703632 |
BXGD023670 |
Increased level of hippuric acid in urine |
|
| C4722419 |
BXGD023802 |
Extrapulmonary Small Cell Carcinoma |
Neoplasms |
| C4732730 |
BXGD023895 |
Blood spots |
|