| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004245 |
BXGD000264 |
Atrioventricular Block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; 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 |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007124 |
BXGD000437 |
Noninfiltrating Intraductal Carcinoma |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008479 |
BXGD000544 |
Chondrosarcoma |
Neoplasms |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0012236 |
BXGD000772 |
DiGeorge Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0015826 |
BXGD001022 |
Fenestration (morphologic abnormality) |
|
| C0016057 |
BXGD001042 |
Fibrosarcoma |
Neoplasms |
| C0018798 |
BXGD001223 |
Congenital Heart 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 |
| C0019296 |
BXGD001316 |
Inguinal Hernia, Indirect |
Pathological Conditions, Signs and Symptoms |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0020636 |
BXGD001456 |
underdevelopment |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| 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 |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0035436 |
BXGD002550 |
Rheumatic Fever |
Infections; Musculoskeletal Diseases |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0040128 |
BXGD002844 |
Thyroid Diseases |
Endocrine System Diseases |
| C0040427 |
BXGD002864 |
Tooth Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0041207 |
BXGD002898 |
Truncus Arteriosus, Persistent |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0149925 |
BXGD003387 |
Small cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0152436 |
BXGD003591 |
Hymen, Imperforate |
Pathological Conditions, Signs and Symptoms |
| C0152438 |
BXGD003592 |
Sprengel deformity |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0178664 |
BXGD004032 |
Glomerulosclerosis (disorder) |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206624 |
BXGD004190 |
Hepatoblastoma |
Neoplasms |
| C0206762 |
BXGD004290 |
Limb Deformities, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0220697 |
BXGD004324 |
POLYDACTYLY, POSTAXIAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220704 |
BXGD004327 |
Shprintzen syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0235480 |
BXGD004751 |
Paroxysmal atrial fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238441 |
BXGD004932 |
Subglottic stenosis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0262374 |
BXGD005230 |
Stricture of anus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0264303 |
BXGD005379 |
Laryngomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0264490 |
BXGD005394 |
Acute respiratory failure |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases |
| 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 |
| C0265594 |
BXGD005553 |
Congenital absence of hand |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266009 |
BXGD005604 |
Congenital absence of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266013 |
BXGD005606 |
Congenital hypoplasia of breast |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266231 |
BXGD005633 |
Ectopic anus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266295 |
BXGD005645 |
Congenital hypoplasia of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266383 |
BXGD005660 |
Uterine Anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0269269 |
BXGD006058 |
Inversion of nipple (disorder) |
Skin and Connective Tissue Diseases |
| C0271561 |
BXGD006213 |
Somatotropin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0278488 |
BXGD006515 |
Carcinoma breast stage IV |
|
| C0278595 |
BXGD006545 |
Adult Fibrosarcoma |
Neoplasms |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0345905 |
BXGD007746 |
Intrahepatic Cholangiocarcinoma |
Neoplasms |
| C0346629 |
BXGD007831 |
Malignant neoplasm of large intestine |
Digestive System Diseases; Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0426799 |
BXGD008578 |
Congenital hypoplasia of clavicle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0426807 |
BXGD008581 |
Short clavicle |
|
| C0426868 |
BXGD008591 |
Absence of hand |
|
| C0428908 |
BXGD008641 |
Sinus Node Dysfunction (disorder) |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0496956 |
BXGD009052 |
Neoplasm of uncertain or unknown behavior of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0520927 |
BXGD009124 |
Decreased fertility |
|
| C0524730 |
BXGD009243 |
Odontome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0559106 |
BXGD009465 |
Ventricular preexcitation |
Pathological Conditions, Signs and Symptoms |
| C0574785 |
BXGD009506 |
Lower Urinary Tract Symptoms |
Pathological Conditions, Signs and Symptoms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0685381 |
BXGD009809 |
Congenital hypoplasia of radius |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0740404 |
BXGD009991 |
Limb defects |
|
| C0741916 |
BXGD010044 |
Cardiac defects |
|
| C0751956 |
BXGD010653 |
Acute Cerebrovascular Accidents |
Nervous System Diseases; Cardiovascular Diseases |
| C0853879 |
BXGD010982 |
Invasive carcinoma of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0854778 |
BXGD011033 |
Pancreatic carcinoma resectable |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0858252 |
BXGD011172 |
Breast adenocarcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0948364 |
BXGD011530 |
Periprosthetic osteolysis |
Musculoskeletal Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1257931 |
BXGD011815 |
Mammary Neoplasms, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1319315 |
BXGD012415 |
Adenocarcinoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1321551 |
BXGD012436 |
Shprintzen-Goldberg syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1334274 |
BXGD012695 |
Invasive Carcinoma |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1378703 |
BXGD012933 |
Renal carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1405984 |
BXGD013029 |
Absent radius |
|
| C1442978 |
BXGD013065 |
Hernia of abdominal wall |
Pathological Conditions, Signs and Symptoms |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1704272 |
BXGD013537 |
Benign Prostatic Hyperplasia |
Male Urogenital Diseases |
| C1708349 |
BXGD013597 |
Hereditary Diffuse Gastric Cancer |
Digestive System Diseases; Neoplasms |
| C1827293 |
BXGD013768 |
Carcinoma of urinary bladder, invasive |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1832117 |
BXGD013798 |
Short humerus |
|
| C1832160 |
BXGD013803 |
Abnormality of temperature regulation |
|
| C1837218 |
BXGD014207 |
Cleft palate, isolated |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1837279 |
BXGD014217 |
Hypoplastic toenails |
|
| C1837315 |
BXGD014218 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 |
|
| C1839829 |
BXGD014413 |
Short distal phalanx of finger |
|
| C1846434 |
BXGD014814 |
Hypoplastic scapulae |
|
| C1853238 |
BXGD015320 |
Conotruncal defect |
|
| C1857206 |
BXGD015684 |
Sparse lateral eyebrow |
|
| C1858539 |
BXGD015803 |
Shawl scrotum |
|
| C1858574 |
BXGD015810 |
Sparse axillary hair |
|
| C1859392 |
BXGD015885 |
Absent axillary hair |
|
| C1859775 |
BXGD015930 |
Anterior pituitary hypoplasia |
|
| C1860614 |
BXGD015992 |
ULNAR HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1862083 |
BXGD016099 |
Short 4th toe |
|
| C1865571 |
BXGD016330 |
Aplasia/Hypoplasia of the ulna |
|
| C1866994 |
BXGD016431 |
Ulnar-mammary syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1867000 |
BXGD016432 |
Hypoplastic/absent/deformed radius |
|
| C1867003 |
BXGD016433 |
Axillary apocrine gland hypoplasia |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2675481 |
BXGD017292 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 |
|
| C2677123 |
BXGD017364 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 |
|
| C2678397 |
BXGD017406 |
Aplasia of the ulna |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3279571 |
BXGD018763 |
Ectopic posterior pituitary |
|
| C3554460 |
BXGD019215 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C4021111 |
BXGD020558 |
Short 5th toe |
|
| C4021742 |
BXGD020750 |
Abnormality of the humerus |
|
| C4021744 |
BXGD020751 |
Abnormality of the wrist |
|
| C4021785 |
BXGD020778 |
Abnormality of the metacarpal bones |
Musculoskeletal Diseases |
| C4021792 |
BXGD020783 |
Abnormality of the clavicle |
|
| C4024213 |
BXGD021304 |
Aplasia of the pectoralis major muscle |
|
| C4025467 |
BXGD021662 |
Deformed radius |
|
| C4025675 |
BXGD021726 |
Abnormality of the radius |
|
| C4228778 |
BXGD022292 |
Abnormality of radial ray |
|
| C4551936 |
BXGD023442 |
Anal Stenosis, CTCAE |
|
| C4552011 |
BXGD023477 |
Gonadotropin deficiency |
|
| C4704874 |
BXGD023682 |
Mammary Carcinoma, Human |
Neoplasms; Skin and Connective Tissue Diseases |