| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0002448 |
BXGD000115 |
Ameloblastoma |
Neoplasms |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0002893 |
BXGD000150 |
Refractory anemias |
Hemic and Lymphatic Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004610 |
BXGD000281 |
Bacteremia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0004779 |
BXGD000291 |
Basal Cell Nevus Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0005411 |
BXGD000313 |
Biliary Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System 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 |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007129 |
BXGD000439 |
Merkel cell carcinoma |
Neoplasms; Infections |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007138 |
BXGD000446 |
Carcinoma, Transitional Cell |
Neoplasms |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008350 |
BXGD000531 |
Cholelithiasis |
Digestive System Diseases |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| 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 |
| C0010036 |
BXGD000642 |
Corneal dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010276 |
BXGD000659 |
Craniopharyngioma |
Neoplasms |
| C0011649 |
BXGD000746 |
Dermoid Cyst |
Neoplasms |
| C0011882 |
BXGD000761 |
Diabetic Neuropathies |
Nervous System Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014013 |
BXGD000877 |
Empyema, Pleural |
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases |
| C0014072 |
BXGD000888 |
Experimental Autoimmune Encephalomyelitis |
Immune System Diseases; Nervous System Diseases |
| C0014474 |
BXGD000917 |
Ependymoma |
Neoplasms |
| C0014556 |
BXGD000932 |
Epilepsy, Temporal Lobe |
Nervous System Diseases |
| C0014850 |
BXGD000957 |
Esophageal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015393 |
BXGD000981 |
Eye Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016325 |
BXGD001053 |
Fluoride Poisoning |
Chemically-Induced Disorders |
| C0017152 |
BXGD001096 |
Gastritis |
Digestive System Diseases |
| C0017154 |
BXGD001097 |
Gastritis, Atrophic |
Digestive System Diseases |
| C0017185 |
BXGD001104 |
Gastrointestinal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018552 |
BXGD001202 |
Hamartoma |
Neoplasms |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0019284 |
BXGD001312 |
Diaphragmatic Hernia |
Pathological Conditions, Signs and Symptoms |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020476 |
BXGD001398 |
Hyperlipoproteinemias |
Nutritional and Metabolic Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023015 |
BXGD001601 |
Language Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025500 |
BXGD001874 |
Mesothelioma |
Neoplasms |
| C0025568 |
BXGD001877 |
Metaplasia |
Pathological Conditions, Signs and Symptoms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026267 |
BXGD001896 |
Mitral Valve Prolapse Syndrome |
Cardiovascular Diseases |
| C0026499 |
BXGD001905 |
Monosomy |
Pathological Conditions, Signs and Symptoms |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027055 |
BXGD001964 |
Myocardial Reperfusion Injury |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027794 |
BXGD002036 |
Neural Tube Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0028840 |
BXGD002089 |
Ocular Hypertension |
Eye Diseases |
| C0028860 |
BXGD002093 |
Oculocerebrorenal Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases |
| C0028880 |
BXGD002097 |
Odontogenic Tumors |
Neoplasms |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0030305 |
BXGD002206 |
Pancreatitis |
Digestive System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0030569 |
BXGD002242 |
Secondary Parkinson Disease |
Nervous System Diseases |
| C0032019 |
BXGD002321 |
Pituitary Neoplasms |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0032584 |
BXGD002363 |
polyps |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0035934 |
BXGD002572 |
Rubinstein-Taybi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037221 |
BXGD002673 |
Situs Inversus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0038525 |
BXGD002768 |
Subarachnoid Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0040588 |
BXGD002879 |
Tracheoesophageal Fistula |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases |
| C0042341 |
BXGD002975 |
Varicocele |
Male Urogenital Diseases; Cardiovascular Diseases |
| C0078982 |
BXGD003060 |
Arhinencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0079541 |
BXGD003081 |
Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085207 |
BXGD003140 |
Gestational Diabetes |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0085390 |
BXGD003160 |
Li-Fraumeni Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases |
| C0149782 |
BXGD003365 |
Squamous cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0149925 |
BXGD003387 |
Small cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151744 |
BXGD003469 |
Myocardial Ischemia |
Cardiovascular Diseases |
| C0152021 |
BXGD003520 |
Congenital heart disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0153452 |
BXGD003647 |
Malignant neoplasm of gallbladder |
Digestive System Diseases; Neoplasms |
| C0153633 |
BXGD003674 |
Malignant neoplasm of brain |
Neoplasms; Nervous System Diseases |
| C0158733 |
BXGD003903 |
Hand polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0158734 |
BXGD003904 |
Polydactyly of toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175694 |
BXGD004002 |
Smith-Lemli-Opitz Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206180 |
BXGD004170 |
Ki-1+ Anaplastic Large Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0206624 |
BXGD004190 |
Hepatoblastoma |
Neoplasms |
| C0206663 |
BXGD004225 |
Neuroectodermal Tumor, Primitive |
Neoplasms |
| C0206695 |
BXGD004246 |
Carcinoma, Neuroendocrine |
Neoplasms |
| C0220603 |
BXGD004293 |
Childhood Brain Neoplasm |
Neoplasms; Nervous System Diseases |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0220708 |
BXGD004328 |
VATER Association |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases |
| C0221023 |
BXGD004369 |
Cyclic neutropenia |
Hemic and Lymphatic Diseases |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0235782 |
BXGD004769 |
Gallbladder Carcinoma |
Digestive System Diseases; Neoplasms |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238198 |
BXGD004893 |
Gastrointestinal Stromal Tumors |
Digestive System Diseases; Neoplasms |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0240896 |
BXGD005059 |
Fundus coloboma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0241397 |
BXGD005095 |
Triphalangeal thumb |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0242343 |
BXGD005153 |
Panhypopituitarism |
Nervous System Diseases; Endocrine System Diseases |
| C0242350 |
BXGD005154 |
Erectile dysfunction |
Male Urogenital Diseases; Mental Disorders |
| C0242422 |
BXGD005163 |
Parkinsonian Disorders |
Nervous System Diseases |
| C0265581 |
BXGD005551 |
Longitudinal deficiency of radius |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265633 |
BXGD005556 |
Congenital absence of tibia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266174 |
BXGD005626 |
Duodenal atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0266484 |
BXGD005681 |
Schizencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266642 |
BXGD005705 |
Situs ambiguus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0266667 |
BXGD005707 |
Cyclocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0266981 |
BXGD005724 |
Torus palatinus |
Musculoskeletal Diseases; Stomatognathic Diseases |
| C0271561 |
BXGD006213 |
Somatotropin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278652 |
BXGD006554 |
Childhood Craniopharyngioma |
Neoplasms |
| C0278704 |
BXGD006567 |
Malignant Childhood Neoplasm |
Neoplasms |
| C0278874 |
BXGD006605 |
Adult Ependymoma |
Neoplasms |
| C0278875 |
BXGD006606 |
Adult Craniopharyngioma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0280313 |
BXGD006737 |
Squamous cell carcinoma of oropharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0281361 |
BXGD006774 |
Adenocarcinoma of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0300948 |
BXGD006828 |
Caudal Regression Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0333641 |
BXGD006961 |
Atrophic |
Pathological Conditions, Signs and Symptoms |
| C0333983 |
BXGD006975 |
Hyperplastic Polyp |
Pathological Conditions, Signs and Symptoms |
| C0334634 |
BXGD007144 |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0341154 |
BXGD007391 |
Esophageal atresia with tracheoesophageal fistula (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0344490 |
BXGD007680 |
Sacral agenesis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0345354 |
BXGD007728 |
Radial polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0374997 |
BXGD007967 |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0392514 |
BXGD008051 |
Hereditary hemochromatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0399440 |
BXGD008244 |
Hereditary gingival fibromatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0431362 |
BXGD008670 |
Lobar Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0431363 |
BXGD008671 |
Alobar Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0431414 |
BXGD008687 |
Sacral dysgenesis |
|
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0432215 |
BXGD008739 |
Progressive pseudorheumatoid dysplasia |
Musculoskeletal Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0549306 |
BXGD009368 |
Mesomelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677898 |
BXGD009735 |
invasive cancer |
Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0685682 |
BXGD009812 |
Single naris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0685869 |
BXGD009822 |
Monophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0687140 |
BXGD009840 |
Hemangioma of skin |
Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C0687720 |
BXGD009844 |
Central Diabetes Insipidus |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0751291 |
BXGD010379 |
Desmoplastic Medulloblastoma |
Neoplasms |
| C0751297 |
BXGD010384 |
Leptomeningeal Neoplasms |
Neoplasms; Nervous System Diseases |
| C0751414 |
BXGD010434 |
Parkinson Disease, Secondary Vascular |
Nervous System Diseases |
| C0751415 |
BXGD010435 |
Atherosclerotic Parkinsonism |
Nervous System Diseases |
| C0751617 |
BXGD010525 |
Semilobar Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0795803 |
BXGD010734 |
Chromosome 2, trisomy 2p |
Pathological Conditions, Signs and Symptoms |
| C0795839 |
BXGD010745 |
Chromosome 10, monosomy 10q |
Pathological Conditions, Signs and Symptoms |
| C0796611 |
BXGD010835 |
Newly Diagnosed Childhood Ependymoma |
Neoplasms |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0850666 |
BXGD010901 |
Infection caused by Helicobacter pylori |
Infections |
| C0948008 |
BXGD011499 |
Ischemic stroke |
Nervous System Diseases; Cardiovascular Diseases |
| C1266184 |
BXGD011991 |
Atypical Teratoid Rhabdoid Tumor |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1302401 |
BXGD012303 |
Adenoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1304508 |
BXGD012341 |
Spindle cell hemangioma |
Neoplasms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1367420 |
BXGD012882 |
Kaposiform Hemangioendothelioma |
Neoplasms; Infections; Hemic and Lymphatic Diseases |
| C1395852 |
BXGD012991 |
Polydactyly preaxial type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1609433 |
BXGD013438 |
Congenital absence of kidneys syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1691215 |
BXGD013491 |
Penile hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1704436 |
BXGD013564 |
Peripheral Arterial Diseases |
Cardiovascular Diseases |
| C1707400 |
BXGD013582 |
Classic medulloblastoma |
Neoplasms |
| C1735591 |
BXGD013712 |
VACTERL Association |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1838610 |
BXGD014326 |
Aplasia of the 1st metacarpal |
|
| C1839767 |
BXGD014404 |
Tented upper lip vermilion |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840235 |
BXGD014436 |
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C1840238 |
BXGD014437 |
Midnasal stenosis |
|
| C1840529 |
BXGD014474 |
HOLOPROSENCEPHALY 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1843496 |
BXGD014588 |
Bilateral microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1845108 |
BXGD014710 |
Prominent median palatal raphe |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1850259 |
BXGD015125 |
Short tibia |
|
| C1851584 |
BXGD015221 |
Childhood Ependymoma |
Neoplasms |
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855340 |
BXGD015490 |
Bowing of the long bones |
|
| C1856892 |
BXGD015652 |
Facial Dysmorphism with Multiple Malformations |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1857108 |
BXGD015677 |
Limitation of joint mobility |
|
| C1857479 |
BXGD015705 |
Short columella |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1859717 |
BXGD015924 |
Depressed nasal tip |
|
| C1861028 |
BXGD016010 |
Esophageal atresia with or without tracheoesophageal fistula |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1861355 |
BXGD016038 |
Syndactyly, Type IV |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1861360 |
BXGD016039 |
6 metacarpals |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1862151 |
BXGD016110 |
BRACHYDACTYLY, TYPE A1 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1868114 |
BXGD016489 |
POLYDACTYLY, PREAXIAL II (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases |
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1968843 |
BXGD016739 |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2347613 |
BXGD017039 |
Childhood Atypical Teratoid/Rhabdoid Tumor |
|
| C2363741 |
BXGD017100 |
HIV-1 infection |
|
| C2698045 |
BXGD017445 |
Merkel Cell Polyomavirus Infection |
Infections |
| C2699510 |
BXGD017460 |
Split-Hand/Foot Malformation |
Pathological Conditions, Signs and Symptoms |
| C2749463 |
BXGD017620 |
Aplasia/Hypoplasia of the radius |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931501 |
BXGD018031 |
Microphthalmia associated with colobomatous cyst |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases |
| C2931870 |
BXGD018086 |
Familial schizencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3179455 |
BXGD018552 |
Niemann-Pick Disease, Type C1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C3179508 |
BXGD018554 |
Aplasia/Hypoplasia of the thumb |
Musculoskeletal Diseases |
| C3241937 |
BXGD018578 |
Nonalcoholic Steatohepatitis |
Digestive System Diseases |
| C3276742 |
BXGD018695 |
Fibular duplication |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3495676 |
BXGD019000 |
Anorectal Malformations |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C3540764 |
BXGD019092 |
Coloboma of the Retina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C3811653 |
BXGD019662 |
Experimental Organism Basal Cell Carcinoma |
Neoplasms |
| C3828416 |
BXGD019740 |
Radiation Damage |
Wounds and Injuries |
| C3839990 |
BXGD019791 |
Congenital stenosis of nasal pyriform aperture |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C4021100 |
BXGD020554 |
Increased fibular diameter |
|
| C4021726 |
BXGD020735 |
EMG: myopathic abnormalities |
Musculoskeletal Diseases; Nervous System Diseases |
| C4023728 |
BXGD021254 |
1-5 finger syndactyly |
|
| C4024338 |
BXGD021320 |
Deviation of the hand or of fingers of the hand |
Musculoskeletal Diseases |
| C4025390 |
BXGD021656 |
Abnormality of the trapezium |
|
| C4025397 |
BXGD021657 |
Abnormality of the scaphoid |
|
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4082761 |
BXGD022092 |
Abnormality of limb bone morphology |
|
| C4330667 |
BXGD022804 |
Medulloblastoma, Non-WNT/Non-SHH |
|
| C4520983 |
BXGD023052 |
Congenital atresia of extrahepatic bile duct |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C4525297 |
BXGD023131 |
Stage 0 Gallbladder Cancer AJCC v8 |
|
| C4525300 |
BXGD023132 |
Stage IIA Gallbladder Cancer AJCC v8 |
|
| C4525301 |
BXGD023133 |
Stage IIB Gallbladder Cancer AJCC v8 |
|
| C4525302 |
BXGD023134 |
Stage III Gallbladder Cancer AJCC v8 |
|
| C4525305 |
BXGD023135 |
Stage IV Gallbladder Cancer AJCC v8 |
|
| C4529962 |
BXGD023178 |
Fatty Liver Disease |
|
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4551564 |
BXGD023352 |
Narrow nasal bridge |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|