| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003499 |
BXGD000201 |
Supravalvular aortic stenosis |
Cardiovascular Diseases |
| C0003803 |
BXGD000220 |
Arnold Chiari Malformation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003862 |
BXGD000230 |
Arthralgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0003872 |
BXGD000235 |
Arthritis, Psoriatic |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0008350 |
BXGD000531 |
Cholelithiasis |
Digestive System Diseases |
| C0008497 |
BXGD000549 |
Choriocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011847 |
BXGD000749 |
Diabetes |
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 |
| C0012811 |
BXGD000790 |
Colon diverticulum anatomic structure |
Pathological Conditions, Signs and Symptoms; Digestive 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 |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018536 |
BXGD001201 |
Hallux Valgus |
Musculoskeletal Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
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 |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020437 |
BXGD001381 |
Hypercalcemia |
Nutritional and Metabolic Diseases |
| C0020438 |
BXGD001382 |
Hypercalciuria |
Pathological Conditions, Signs and Symptoms |
| C0020545 |
BXGD001427 |
Hypertension, Renovascular |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0024523 |
BXGD001781 |
Malabsorption Syndrome |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0024636 |
BXGD001793 |
Malocclusion |
Stomatognathic 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 |
| C0026266 |
BXGD001895 |
Mitral Valve Insufficiency |
Cardiovascular Diseases |
| C0026267 |
BXGD001896 |
Mitral Valve Prolapse Syndrome |
Cardiovascular Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027709 |
BXGD002026 |
Nephrocalcinosis |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0029464 |
BXGD002161 |
Osteosclerosis |
Musculoskeletal Diseases |
| C0030920 |
BXGD002263 |
Peptic Ulcer |
Digestive System Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0034880 |
BXGD002488 |
Hyperacusis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0034888 |
BXGD002492 |
Rectal Prolapse |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040588 |
BXGD002879 |
Tracheoesophageal Fistula |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041974 |
BXGD002945 |
Urethral Stenosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0080174 |
BXGD003106 |
Spina Bifida Occulta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0085298 |
BXGD003155 |
Sudden Cardiac Death |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149630 |
BXGD003334 |
Bicuspid aortic valve |
Cardiovascular Diseases |
| C0151205 |
BXGD003406 |
Periorbital edema |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0156273 |
BXGD003847 |
Bladder Diverticulum |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0175702 |
BXGD004008 |
Williams Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C0221209 |
BXGD004405 |
Pelvic kidney |
|
| C0234133 |
BXGD004624 |
Extrapyramidal sign |
|
| C0234144 |
BXGD004625 |
Dysgraphia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235752 |
BXGD004766 |
Port-Wine Stain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240340 |
BXGD005031 |
Microdontia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0262655 |
BXGD005264 |
Recurrent urinary tract infection |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0265886 |
BXGD005585 |
Overriding aorta |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C0266061 |
BXGD005618 |
Open Bite |
Stomatognathic Diseases |
| C0266295 |
BXGD005645 |
Congenital hypoplasia of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266298 |
BXGD005646 |
Accessory kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266623 |
BXGD005702 |
Congenital anomaly of neck |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0271441 |
BXGD006203 |
Chronic otitis media |
Otorhinolaryngologic Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0332606 |
BXGD006897 |
Elfin facies |
|
| C0342257 |
BXGD007447 |
Complications of Diabetes Mellitus |
Endocrine System Diseases |
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0344529 |
BXGD007687 |
Cornea plana |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0344530 |
BXGD007688 |
Congenital keratoglobus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0345030 |
BXGD007715 |
Peripheral pulmonary artery stenosis |
Cardiovascular Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0392525 |
BXGD008052 |
Nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0431718 |
BXGD008708 |
Multiple renal cysts |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0432163 |
BXGD008729 |
Defect of vertebral segmentation |
Musculoskeletal Diseases |
| C0432333 |
BXGD008778 |
Abnormal dermatoglyphic pattern |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0546967 |
BXGD009349 |
Posterior embryotoxon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0578626 |
BXGD009551 |
blue iris (physical finding) |
|
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0600104 |
BXGD009690 |
Obsessive compulsive behavior |
Behavior and Behavior Mechanisms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0751466 |
BXGD010452 |
Phonophobia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0856748 |
BXGD011113 |
Aneurysm of aortic arch |
Cardiovascular Diseases |
| C0917798 |
BXGD011409 |
Cerebral Ischemia |
Nervous System Diseases; Cardiovascular Diseases |
| C0917801 |
BXGD011412 |
Sleeplessness |
Nervous System Diseases; Mental Disorders |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1527344 |
BXGD013275 |
Dysphonia |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1800706 |
BXGD013755 |
Idiopathic Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C1836150 |
BXGD014082 |
Gait imbalance |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837279 |
BXGD014217 |
Hypoplastic toenails |
|
| C1837463 |
BXGD014235 |
Narrow face |
|
| C1839326 |
BXGD014367 |
Abnormal form of the vertebral bodies |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1843517 |
BXGD014593 |
Retinal arteriolar tortuosity |
|
| C1844505 |
BXGD014633 |
Pointed chin |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1855925 |
BXGD015561 |
Hyperopia, High |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1856872 |
BXGD015647 |
Down-sloping shoulders |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857656 |
BXGD015731 |
Prematurely aged appearance |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931618 |
BXGD018040 |
Gestational trophoblastic disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3554617 |
BXGD019228 |
Adducted thumb |
Musculoskeletal Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C4020847 |
BXGD020486 |
Abnormality of pelvic girdle bone morphology |
|
| C4021242 |
BXGD020592 |
Hypoplasia of the zygomatic bone |
|
| C4021662 |
BXGD020726 |
Abnormal endocardium morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4021801 |
BXGD020791 |
Lacrimation abnormality |
|
| C4022012 |
BXGD020868 |
Death in early adulthood |
|
| C4022386 |
BXGD020894 |
Overfriendliness |
|
| C4023676 |
BXGD021237 |
Increased nuchal translucency |
Pathological Conditions, Signs and Symptoms |
| C4023752 |
BXGD021258 |
Abnormality of the diencephalon |
|
| C4024748 |
BXGD021402 |
Aplasia/Hypoplasia of the iris |
|
| C4024897 |
BXGD021462 |
Atrophy/Degeneration involving the corticospinal tracts |
|
| C4025211 |
BXGD021592 |
Abnormal carotid artery morphology |
|
| C4025362 |
BXGD021653 |
Abnormality of the gastric mucosa |
|
| C4025660 |
BXGD021715 |
Abnormality of the ankles |
|
| C4025732 |
BXGD021764 |
Tubulointerstitial abnormality |
|
| C4025788 |
BXGD021789 |
Nystagmus-induced head nodding |
Eye Diseases; Nervous System Diseases |
| C4025898 |
BXGD021853 |
Functional abnormality of male internal genitalia |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4553313 |
BXGD023540 |
Periorbital Edema, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|