| C0000731 |
BXGD000002 |
Abdomen distended |
Digestive System Diseases |
| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003504 |
BXGD000202 |
Aortic Valve Insufficiency |
Cardiovascular Diseases |
| C0003507 |
BXGD000203 |
Aortic Valve Stenosis |
Cardiovascular Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004245 |
BXGD000264 |
Atrioventricular Block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0006384 |
BXGD000395 |
Bundle-Branch Block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010308 |
BXGD000661 |
Congenital Hypothyroidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| 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 |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013404 |
BXGD000833 |
Dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0013481 |
BXGD000846 |
Ebstein Anomaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0014145 |
BXGD000901 |
Yolk Sac Tumor |
Neoplasms |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| 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 |
| C0016522 |
BXGD001067 |
Foramen Ovale, Patent |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018794 |
BXGD001222 |
Heart Block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018799 |
BXGD001224 |
Heart Diseases |
Cardiovascular Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018808 |
BXGD001229 |
Heart murmur |
Pathological Conditions, Signs and Symptoms |
| C0018816 |
BXGD001234 |
Heart Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022346 |
BXGD001537 |
Icterus |
Pathological Conditions, Signs and Symptoms |
| C0023269 |
BXGD001627 |
leiomyosarcoma |
Neoplasms |
| C0024314 |
BXGD001767 |
Lymphoproliferative Disorders |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0026269 |
BXGD001897 |
Mitral Valve Stenosis |
Cardiovascular Diseases |
| C0026499 |
BXGD001905 |
Monosomy |
Pathological Conditions, Signs and Symptoms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027126 |
BXGD001976 |
Myotonic Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0031269 |
BXGD002297 |
Peutz-Jeghers Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0039070 |
BXGD002787 |
Syncope |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040761 |
BXGD002883 |
Transposition of Great Vessels |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0041207 |
BXGD002898 |
Truncus Arteriosus, Persistent |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0042571 |
BXGD002991 |
Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0085207 |
BXGD003140 |
Gestational Diabetes |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0085298 |
BXGD003155 |
Sudden Cardiac Death |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0085612 |
BXGD003204 |
Ventricular arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0149630 |
BXGD003334 |
Bicuspid aortic valve |
Cardiovascular Diseases |
| C0151516 |
BXGD003430 |
Thyroid Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases |
| C0151517 |
BXGD003431 |
Complete atrioventricular block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| 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 |
| C0206762 |
BXGD004290 |
Limb Deformities, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220697 |
BXGD004324 |
POLYDACTYLY, POSTAXIAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235480 |
BXGD004751 |
Paroxysmal atrial fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0238198 |
BXGD004893 |
Gastrointestinal Stromal Tumors |
Digestive System Diseases; Neoplasms |
| C0238415 |
BXGD004926 |
SCLERODERMA, PULMONARY |
|
| C0264886 |
BXGD005432 |
Conduction disorder of the heart |
Cardiovascular Diseases |
| C0265264 |
BXGD005490 |
Holt-Oram syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0265843 |
BXGD005581 |
Congenital atresia of aortic valve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0265881 |
BXGD005583 |
Congenital hypoplasia of aortic arch |
Cardiovascular Diseases |
| C0266283 |
BXGD005642 |
Ectopic thyroid tissue (disorder) |
|
| C0266610 |
BXGD005699 |
Preauricular dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0278607 |
BXGD006548 |
Adult Leiomyosarcoma |
Neoplasms |
| C0279986 |
BXGD006705 |
Childhood Leiomyosarcoma |
Neoplasms |
| C0340427 |
BXGD007329 |
Familial dilated cardiomyopathy |
Cardiovascular Diseases |
| C0340489 |
BXGD007336 |
Lone atrial fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0344724 |
BXGD007701 |
Ostium secundum atrial septal defect |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0344760 |
BXGD007703 |
Congenital atresia of mitral valve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0410226 |
BXGD008421 |
Congenital Myotonic Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0428791 |
BXGD008635 |
Aortic valve calcification |
Nutritional and Metabolic Diseases; Cardiovascular Diseases |
| C0431109 |
BXGD008658 |
Choroid Plexus Carcinoma |
Neoplasms; Nervous System Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0456132 |
BXGD008869 |
Large fontanelle |
|
| C0521533 |
BXGD009142 |
Atrial septal aneurysm |
Cardiovascular Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0578038 |
BXGD009542 |
Thin lips |
|
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600031 |
BXGD009681 |
Congenital absence of spleen |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0600125 |
BXGD009694 |
Prolonged PR interval |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0685707 |
BXGD009814 |
Muscular ventricular septum defect |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0685889 |
BXGD009823 |
Splenic Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases |
| C0700639 |
BXGD009899 |
Pyloric Stenosis, Hypertrophic |
Digestive System Diseases |
| C0741916 |
BXGD010044 |
Cardiac defects |
|
| C0744669 |
BXGD010104 |
Complex congenital heart disease |
|
| C0749420 |
BXGD010216 |
Thyroid Agenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases |
| C0751956 |
BXGD010653 |
Acute Cerebrovascular Accidents |
Nervous System Diseases; Cardiovascular Diseases |
| C0856169 |
BXGD011096 |
Endothelial dysfunction |
|
| C0856747 |
BXGD011112 |
Aneurysm of ascending aorta |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C0856748 |
BXGD011113 |
Aneurysm of aortic arch |
Cardiovascular Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917799 |
BXGD011410 |
Hypersomnia |
Nervous System Diseases; Mental Disorders |
| C0948008 |
BXGD011499 |
Ischemic stroke |
Nervous System Diseases; Cardiovascular Diseases |
| C1260873 |
BXGD011835 |
Aortic valve disorder |
Cardiovascular Diseases |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1383860 |
BXGD012935 |
Cardiac Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C1389016 |
BXGD012962 |
ATRIOVENTRICULAR CANAL DEFECT |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1389018 |
BXGD012963 |
Atrioventricular Septal Defect |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1409792 |
BXGD013040 |
Coronary sinus defect |
|
| C1449563 |
BXGD013086 |
Cardiomyopathy, Familial Idiopathic |
Cardiovascular Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1563716 |
BXGD013390 |
Thyroid Dysgenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases |
| C1836653 |
BXGD014143 |
Ascending aortic dissection |
Cardiovascular Diseases |
| C1843687 |
BXGD014602 |
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1846149 |
BXGD014786 |
Intellectual disability, progressive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1857586 |
BXGD015719 |
CONOTRUNCAL HEART MALFORMATIONS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1861869 |
BXGD016088 |
Underdeveloped supraorbital ridges |
|
| C1862389 |
BXGD016126 |
ATRIAL SEPTAL DEFECT 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1867131 |
BXGD016440 |
Broad hallux |
|
| C1879286 |
BXGD016570 |
Hereditary bundle branch system defect |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1969292 |
BXGD016770 |
Thoracic aorta calcification |
|
| C2585653 |
BXGD017139 |
Persistent atrial fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C2673630 |
BXGD017216 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C2910126 |
BXGD017861 |
Patent or persistent ostium secundum defect (type II) |
|
| C2910127 |
BXGD017862 |
Patent or persistent sinus venosus defect |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931574 |
BXGD018036 |
Chromosome 5, monosomy 5q35 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2931689 |
BXGD018049 |
Dystrophia myotonica 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3250443 |
BXGD018584 |
MYOTONIC DYSTROPHY 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3276096 |
BXGD018683 |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS |
|
| C3280785 |
BXGD018861 |
VENTRICULAR SEPTAL DEFECT 3 |
|
| C3280795 |
BXGD018862 |
HYPOPLASTIC LEFT HEART SYNDROME 2 |
|
| C3468561 |
BXGD018908 |
familial atrial fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C3495549 |
BXGD018991 |
Patent ductus arteriosus - persisting type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases |
| C3502353 |
BXGD019044 |
Atrial Septal Defect with Atrioventricular Conduction Defects |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C3715208 |
BXGD019451 |
AV Block First Degree by ECG Finding |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C3887892 |
BXGD019924 |
Aortic Valve Disease 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4021133 |
BXGD020563 |
Left ventricular noncompaction cardiomyopathy |
Pathological Conditions, Signs and Symptoms |
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4025252 |
BXGD021607 |
Abnormal nasal morphology |
|
| C4025670 |
BXGD021721 |
Abnormality of chromosome segregation |
|
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4324548 |
BXGD022769 |
Non-compaction cardiomyopathy |
Cardiovascular Diseases |
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4551854 |
BXGD023422 |
HYPOPLASTIC LEFT HEART SYNDROME 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |