| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000889 |
BXGD000018 |
Acanthosis Nigricans |
Skin and Connective Tissue Diseases |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001420 |
BXGD000051 |
Papillary adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0001973 |
BXGD000095 |
Alcoholic Intoxication, Chronic |
Chemically-Induced Disorders; Mental Disorders |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002448 |
BXGD000115 |
Ameloblastoma |
Neoplasms |
| C0002893 |
BXGD000150 |
Refractory anemias |
Hemic and Lymphatic Diseases |
| C0003076 |
BXGD000171 |
Aniridia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003857 |
BXGD000228 |
Congenital arteriovenous malformation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0003962 |
BXGD000244 |
Ascites |
Pathological Conditions, Signs and Symptoms |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004763 |
BXGD000289 |
Barrett Esophagus |
Digestive System Diseases; Neoplasms |
| C0004903 |
BXGD000293 |
Beckwith-Wiedemann Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| 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 |
| C0005699 |
BXGD000325 |
Blast Phase |
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005941 |
BXGD000353 |
Bone Diseases, Developmental |
Musculoskeletal Diseases |
| C0005967 |
BXGD000357 |
Bone neoplasms |
Neoplasms; Musculoskeletal Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006145 |
BXGD000376 |
Breast Diseases |
Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007112 |
BXGD000429 |
Adenocarcinoma of prostate |
Neoplasms; Male Urogenital Diseases |
| C0007113 |
BXGD000430 |
Rectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0007114 |
BXGD000431 |
Malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007121 |
BXGD000436 |
Bronchogenic Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007129 |
BXGD000439 |
Merkel cell carcinoma |
Neoplasms; Infections |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007133 |
BXGD000442 |
Carcinoma, Papillary |
Neoplasms |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007138 |
BXGD000446 |
Carcinoma, Transitional Cell |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007621 |
BXGD000468 |
Neoplastic Cell Transformation |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007873 |
BXGD000500 |
Uterine Cervical Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008370 |
BXGD000534 |
Cholestasis |
Digestive System Diseases |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0009363 |
BXGD000599 |
Congenital ocular coloboma (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0009373 |
BXGD000600 |
Colonic Diseases |
Digestive System Diseases |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010495 |
BXGD000674 |
Cutis Laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0010633 |
BXGD000679 |
Cystadenoma |
Neoplasms |
| C0010823 |
BXGD000690 |
Cytomegalovirus Infections |
Infections |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011071 |
BXGD000696 |
Sudden death |
Pathological Conditions, Signs and Symptoms |
| C0011853 |
BXGD000752 |
Diabetes Mellitus, Experimental |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011884 |
BXGD000762 |
Diabetic Retinopathy |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013403 |
BXGD000832 |
Dysplastic Nevus Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C0013404 |
BXGD000833 |
Dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0014060 |
BXGD000882 |
Encephalitis, St. Louis |
Infections; Nervous System Diseases |
| C0014170 |
BXGD000902 |
Endometrial Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0016057 |
BXGD001042 |
Fibrosarcoma |
Neoplasms |
| C0016382 |
BXGD001054 |
Flushing |
Pathological Conditions, Signs and Symptoms |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0017662 |
BXGD001140 |
Glomerulonephritis, Membranoproliferative |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0017665 |
BXGD001141 |
Membranous glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System 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 |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0018920 |
BXGD001246 |
Hemangioma, Cavernous |
Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0018923 |
BXGD001248 |
Hemangiosarcoma |
Neoplasms |
| C0018939 |
BXGD001253 |
Hematological Disease |
Hemic and Lymphatic Diseases |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019207 |
BXGD001303 |
Hepatoma, Morris |
Digestive System Diseases; Neoplasms |
| C0019208 |
BXGD001304 |
Hepatoma, Novikoff |
Digestive System Diseases; Neoplasms |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020305 |
BXGD001374 |
Hydrops Fetalis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020502 |
BXGD001410 |
Hyperparathyroidism |
Endocrine System Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020678 |
BXGD001463 |
Hypotrichosis |
Skin and Connective Tissue Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0022572 |
BXGD001553 |
keratoacanthoma |
Skin and Connective Tissue Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0022593 |
BXGD001560 |
Keratosis |
Skin and Connective Tissue Diseases |
| C0022596 |
BXGD001563 |
Palmoplantar Keratosis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0022602 |
BXGD001564 |
Actinic keratosis |
Neoplasms; Skin and Connective Tissue Diseases |
| C0023267 |
BXGD001626 |
Fibroid Tumor |
Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023440 |
BXGD001646 |
Acute Erythroblastic Leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023452 |
BXGD001651 |
Childhood Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023470 |
BXGD001659 |
Myeloid Leukemia |
Neoplasms |
| C0023473 |
BXGD001661 |
Myeloid Leukemia, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023480 |
BXGD001664 |
Leukemia, Myelomonocytic, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023530 |
BXGD001683 |
Leukopenia |
Hemic and Lymphatic Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0023904 |
BXGD001721 |
Liver Neoplasms, Experimental |
Digestive System Diseases; Neoplasms |
| C0023976 |
BXGD001724 |
Long QT Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024214 |
BXGD001745 |
Lymphangiectasis |
Hemic and Lymphatic Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024301 |
BXGD001759 |
Lymphoma, Follicular |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024305 |
BXGD001763 |
Lymphoma, Non-Hodgkin |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0024667 |
BXGD001794 |
Animal Mammary Neoplasms |
Neoplasms; Animal Diseases |
| C0024668 |
BXGD001795 |
Mammary Neoplasms, Experimental |
Neoplasms |
| C0024814 |
BXGD001809 |
Marinesco-Sjogren syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025267 |
BXGD001845 |
Multiple Endocrine Neoplasia Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases |
| C0025286 |
BXGD001850 |
Meningioma |
Neoplasms; Nervous System Diseases |
| 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 |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026267 |
BXGD001896 |
Mitral Valve Prolapse Syndrome |
Cardiovascular Diseases |
| C0026277 |
BXGD001899 |
Mixed Salivary Gland Tumor |
Neoplasms |
| C0026470 |
BXGD001903 |
Monoclonal Gammopathy of Undetermined Significance |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0026640 |
BXGD001912 |
Mouth Neoplasms |
Neoplasms; Stomatognathic Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0026948 |
BXGD001952 |
Mycosis Fungoides |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027439 |
BXGD001990 |
Nasopharyngeal Neoplasms |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0027497 |
BXGD001993 |
Nausea |
Pathological Conditions, Signs and Symptoms |
| C0027533 |
BXGD001995 |
Neck Neoplasms |
Neoplasms |
| C0027626 |
BXGD002005 |
Neoplasm Invasiveness |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027659 |
BXGD002012 |
Neoplasms, Experimental |
Neoplasms |
| C0027708 |
BXGD002025 |
Nephroblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027831 |
BXGD002047 |
Neurofibromatosis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0027859 |
BXGD002052 |
Acoustic Neuroma |
Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| C0027960 |
BXGD002062 |
Nevus |
Neoplasms |
| C0027962 |
BXGD002064 |
Melanocytic nevus |
Neoplasms |
| C0028326 |
BXGD002075 |
Noonan Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030286 |
BXGD002201 |
Pancreatic Diseases |
Digestive System Diseases |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0030305 |
BXGD002206 |
Pancreatitis |
Digestive System Diseases |
| C0030354 |
BXGD002214 |
Papilloma |
Neoplasms |
| C0030421 |
BXGD002218 |
Paraganglioma |
Neoplasms |
| C0030793 |
BXGD002253 |
Pelvic Neoplasms |
Neoplasms |
| C0030849 |
BXGD002262 |
Penile Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0031511 |
BXGD002304 |
Pheochromocytoma |
Neoplasms |
| C0032326 |
BXGD002351 |
Pneumothorax |
Respiratory Tract Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0032568 |
BXGD002360 |
Inflammatory polyp |
Pathological Conditions, Signs and Symptoms |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0032584 |
BXGD002363 |
polyps |
Pathological Conditions, Signs and Symptoms |
| C0032927 |
BXGD002381 |
Precancerous Conditions |
Neoplasms |
| C0033141 |
BXGD002400 |
Cardiomyopathies, Primary |
Cardiovascular Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0034885 |
BXGD002490 |
Rectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036631 |
BXGD002626 |
Seminoma |
Neoplasms |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0036920 |
BXGD002645 |
Sezary Syndrome |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0037268 |
BXGD002675 |
Skin Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0037286 |
BXGD002681 |
Skin Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C0037999 |
BXGD002722 |
Splenic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0038362 |
BXGD002749 |
Stomatitis |
Stomatognathic Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038987 |
BXGD002785 |
Sweat Gland Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C0039590 |
BXGD002822 |
Testicular Neoplasms |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C0039743 |
BXGD002827 |
Thanatophoric Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0040100 |
BXGD002840 |
Thymoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0040137 |
BXGD002846 |
Thyroid Nodule |
Neoplasms; Endocrine System Diseases |
| C0040411 |
BXGD002859 |
Tongue Neoplasms |
Neoplasms; Stomatognathic Diseases |
| C0040427 |
BXGD002864 |
Tooth Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0041341 |
BXGD002918 |
Tuberous Sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0041409 |
BXGD002924 |
Turner Syndrome, Male |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0042063 |
BXGD002953 |
Urogenital Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042133 |
BXGD002960 |
Uterine Fibroids |
Neoplasms |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0043346 |
BXGD003043 |
Xeroderma Pigmentosum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0079588 |
BXGD003084 |
Ichthyosis, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0079772 |
BXGD003099 |
T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085435 |
BXGD003176 |
Arthritis, Reactive |
Infections; Musculoskeletal Diseases |
| C0085682 |
BXGD003238 |
Hypophosphatemia |
Nutritional and Metabolic Diseases |
| C0086404 |
BXGD003278 |
Experimental Hepatoma |
Digestive System Diseases; Neoplasms |
| C0086692 |
BXGD003306 |
Benign Neoplasm |
Neoplasms |
| C0086942 |
BXGD003315 |
Rous Sarcoma |
Neoplasms; Infections; Animal Diseases |
| C0149521 |
BXGD003328 |
Pancreatitis, Chronic |
Digestive System Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0149782 |
BXGD003365 |
Squamous cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0149826 |
BXGD003370 |
Gastric adenoma |
Digestive System Diseases; Neoplasms |
| C0149925 |
BXGD003387 |
Small cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0151468 |
BXGD003424 |
Thyroid Gland Follicular Adenoma |
Neoplasms; Endocrine System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151779 |
BXGD003473 |
Cutaneous Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0151860 |
BXGD003490 |
Acquired porencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0152235 |
BXGD003567 |
Congenital genu recurvatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0153349 |
BXGD003621 |
Malignant neoplasm of tongue |
Neoplasms; Stomatognathic Diseases |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0153470 |
BXGD003654 |
Malignant neoplasm of spleen |
Neoplasms; Hemic and Lymphatic Diseases |
| C0153574 |
BXGD003667 |
Malignant Uterine Corpus Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0153601 |
BXGD003670 |
Malignant neoplasm of penis |
Neoplasms; Male Urogenital Diseases |
| C0153633 |
BXGD003674 |
Malignant neoplasm of brain |
Neoplasms; Nervous System Diseases |
| C0153676 |
BXGD003679 |
Secondary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0154017 |
BXGD003692 |
Benign neoplasm of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0154091 |
BXGD003702 |
Carcinoma in situ of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0158486 |
BXGD003888 |
Acquired genu recurvatum |
Musculoskeletal Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0162834 |
BXGD003988 |
Hyperpigmentation |
Skin and Connective Tissue Diseases |
| C0162835 |
BXGD003989 |
Hypopigmentation disorder |
Skin and Connective Tissue Diseases |
| C0175704 |
BXGD004010 |
LEOPARD Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205647 |
BXGD004099 |
Follicular adenoma |
Neoplasms |
| C0205696 |
BXGD004107 |
Anaplastic carcinoma |
Neoplasms |
| C0205697 |
BXGD004108 |
Carcinoma, Spindle-Cell |
Neoplasms |
| C0205698 |
BXGD004109 |
Undifferentiated carcinoma |
Neoplasms |
| C0205699 |
BXGD004110 |
Carcinomatosis |
Neoplasms |
| C0205851 |
BXGD004132 |
Germ cell tumor |
Neoplasms |
| C0205874 |
BXGD004136 |
Papilloma, Squamous Cell |
Neoplasms |
| C0205875 |
BXGD004137 |
Papillomatosis |
Neoplasms |
| C0205969 |
BXGD004143 |
Thymic Carcinoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0206093 |
BXGD004154 |
Neuroectodermal Tumors |
Neoplasms |
| C0206115 |
BXGD004157 |
WAGR Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0206656 |
BXGD004219 |
Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0206663 |
BXGD004225 |
Neuroectodermal Tumor, Primitive |
Neoplasms |
| C0206667 |
BXGD004228 |
Adrenal Cortical Adenoma |
Neoplasms; Endocrine System Diseases |
| C0206669 |
BXGD004229 |
Hepatocellular Adenoma |
Digestive System Diseases; Neoplasms |
| C0206674 |
BXGD004232 |
Adenoma, Villous |
Neoplasms |
| C0206682 |
BXGD004237 |
Follicular thyroid carcinoma |
Neoplasms |
| C0206685 |
BXGD004240 |
Acinar Cell Carcinoma |
Neoplasms |
| C0206686 |
BXGD004241 |
Adrenocortical carcinoma |
Neoplasms; Endocrine System Diseases |
| C0206687 |
BXGD004242 |
Carcinoma, Endometrioid |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0206698 |
BXGD004248 |
Cholangiocarcinoma |
Neoplasms |
| C0206704 |
BXGD004254 |
Carcinoma, Large Cell |
Neoplasms |
| C0206708 |
BXGD004256 |
Cervical Intraepithelial Neoplasia |
Neoplasms |
| C0206721 |
BXGD004267 |
Inverted Papilloma |
Neoplasms |
| C0206731 |
BXGD004276 |
Angiofibroma |
Neoplasms |
| C0206739 |
BXGD004283 |
Epithelioid and spindle cell nevus |
Neoplasms |
| C0206754 |
BXGD004289 |
Neuroendocrine Tumors |
Neoplasms |
| C0220605 |
BXGD004294 |
Adult Non-Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220612 |
BXGD004296 |
Childhood Non-Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0220613 |
BXGD004297 |
Adult Soft Tissue Sarcoma |
|
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0220645 |
BXGD004307 |
Childhood Soft Tissue Sarcoma |
|
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221261 |
BXGD004425 |
Koilonychia |
Skin and Connective Tissue Diseases |
| C0221353 |
BXGD004445 |
Horseshoe Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0231679 |
BXGD004507 |
Ulnar deviation of the fingers |
|
| C0235874 |
BXGD004781 |
Disease Exacerbation |
Pathological Conditions, Signs and Symptoms |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238348 |
BXGD004915 |
Squamous cell carcinoma of penis |
Neoplasms; Male Urogenital Diseases |
| C0238441 |
BXGD004932 |
Subglottic stenosis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0238461 |
BXGD004936 |
Anaplastic thyroid carcinoma |
Neoplasms |
| C0238462 |
BXGD004937 |
Medullary carcinoma of thyroid |
Neoplasms; Endocrine System Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239479 |
BXGD004982 |
Round face |
|
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241910 |
BXGD005123 |
Autoimmune Chronic Hepatitis |
Digestive System Diseases; Immune System Diseases |
| C0242292 |
BXGD005146 |
McCune-Albright Syndrome |
Musculoskeletal Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0259783 |
BXGD005221 |
mixed gliomas |
Neoplasms |
| C0262584 |
BXGD005256 |
Carcinoma, Small Cell |
Neoplasms |
| C0264172 |
BXGD005371 |
Barrel chest |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0264353 |
BXGD005382 |
Bronchomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases |
| C0265219 |
BXGD005468 |
Miller Dieker syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0265316 |
BXGD005513 |
Neurocutaneous Syndromes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases |
| C0265319 |
BXGD005514 |
Fibrous skin tumor of tuberous sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0265325 |
BXGD005516 |
Turcot syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases |
| C0265329 |
BXGD005518 |
Organoid Nevus Phakomatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0265529 |
BXGD005542 |
Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265962 |
BXGD005590 |
Ichthyosis linearis circumflexa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266617 |
BXGD005700 |
Congenital anomaly of face |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0268281 |
BXGD005882 |
Infantile neuronal ceroid lipofuscinosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0278061 |
BXGD006492 |
Abnormal mental state |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0278592 |
BXGD006544 |
Adult Angiosarcoma |
Neoplasms |
| C0278595 |
BXGD006545 |
Adult Fibrosarcoma |
Neoplasms |
| C0278701 |
BXGD006566 |
Gastric Adenocarcinoma |
Digestive System Diseases; Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0278996 |
BXGD006621 |
Malignant Head and Neck Neoplasm |
Neoplasms |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279543 |
BXGD006630 |
Philadelphia chromosome positive chronic myelogenous leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0279612 |
BXGD006650 |
Childhood Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0279663 |
BXGD006676 |
Serous cystadenocarcinoma ovary |
Neoplasms |
| C0279671 |
BXGD006677 |
Cervical Squamous Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0279672 |
BXGD006678 |
Cervical Adenocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0279680 |
BXGD006680 |
Transitional cell carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0279988 |
BXGD006707 |
Childhood Angiosarcoma |
Neoplasms |
| C0280313 |
BXGD006737 |
Squamous cell carcinoma of oropharynx |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0280630 |
BXGD006751 |
Uterine Carcinosarcoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0280781 |
BXGD006758 |
Adult Pilocytic Astrocytoma |
Neoplasms |
| C0280856 |
BXGD006767 |
Squamous cell carcinoma of vulva |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0281361 |
BXGD006774 |
Adenocarcinoma of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0282313 |
BXGD006803 |
Condition, Preneoplastic |
Neoplasms |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0332890 |
BXGD006909 |
Congenital hemihypertrophy |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0334082 |
BXGD006987 |
NEVUS, EPIDERMAL (disorder) |
Neoplasms |
| C0334233 |
BXGD007002 |
Pleomorphic carcinoma |
Neoplasms |
| C0334263 |
BXGD007011 |
Trichilemmoma |
Neoplasms |
| C0334274 |
BXGD007015 |
Papillary transitional cell carcinoma |
Neoplasms |
| C0334279 |
BXGD007018 |
Adenocarcinoma, intestinal type |
Neoplasms |
| C0334294 |
BXGD007025 |
Multiple adenomatous polyps |
Neoplasms |
| C0334463 |
BXGD007076 |
Malignant Fibrous Histiocytoma |
Neoplasms |
| C0334517 |
BXGD007099 |
Spermatocytic seminoma |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C0334533 |
BXGD007105 |
Arteriovenous hemangioma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases |
| C0334583 |
BXGD007124 |
Pilocytic Astrocytoma |
Neoplasms |
| C0334663 |
BXGD007149 |
Histiocytic sarcoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0338106 |
BXGD007167 |
Adenocarcinoma of colon |
Digestive System Diseases; Neoplasms |
| C0343073 |
BXGD007597 |
Wooly hair |
Skin and Connective Tissue Diseases |
| C0343079 |
BXGD007598 |
Milia, Multiple Eruptive |
Skin and Connective Tissue Diseases |
| C0343114 |
BXGD007604 |
Woolly hair nevus |
|
| C0343641 |
BXGD007636 |
Human papilloma virus infection |
Infections |
| C0343643 |
BXGD007637 |
Facial wart |
Neoplasms; Infections; Skin and Connective Tissue Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0345905 |
BXGD007746 |
Intrahepatic Cholangiocarcinoma |
Neoplasms |
| C0345907 |
BXGD007748 |
Angiosarcoma of liver |
Digestive System Diseases; Neoplasms; Cardiovascular Diseases |
| C0345958 |
BXGD007751 |
Large cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0345960 |
BXGD007752 |
Giant cell carcinoma of lung |
Neoplasms |
| C0345964 |
BXGD007755 |
Adenoma of lung |
Neoplasms |
| C0346023 |
BXGD007765 |
Syringocystadenoma |
|
| C0346099 |
BXGD007777 |
Nevus spilus |
Neoplasms; Skin and Connective Tissue Diseases |
| C0346153 |
BXGD007781 |
Breast Cancer, Familial |
Neoplasms; Skin and Connective Tissue Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349458 |
BXGD007906 |
Cervical intraepithelial neoplasia grade 1 |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0349459 |
BXGD007907 |
Cervical intraepithelial neoplasia grade 2 |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0349534 |
BXGD007919 |
Carcinoma of anal margin |
Digestive System Diseases; Neoplasms |
| C0349579 |
BXGD007931 |
Atypical Endometrial Hyperplasia |
Female Urogenital Diseases and Pregnancy Complications |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349639 |
BXGD007943 |
Juvenile Myelomonocytic Leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0349658 |
BXGD007947 |
Trichoepithelioma |
Neoplasms |
| C0362030 |
BXGD007958 |
Verrucous epidermal nevus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0362046 |
BXGD007959 |
Prediabetes syndrome |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0406803 |
BXGD008373 |
Syringocystadenoma Papilliferum |
Neoplasms |
| C0410264 |
BXGD008423 |
Contracture of tendo achilles |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423823 |
BXGD008515 |
Thin nails |
Pathological Conditions, Signs and Symptoms |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0431097 |
BXGD008656 |
Malignant melanoma - category |
|
| C0431111 |
BXGD008659 |
Rhabdomyosarcoma with ganglionic differentiation |
Neoplasms; Musculoskeletal Diseases |
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431391 |
BXGD008683 |
Hemimegalencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| 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 |
| C0432408 |
BXGD008785 |
Trisomy 12 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0457531 |
BXGD008893 |
Acanthomatous ameloblastoma |
Neoplasms |
| C0473574 |
BXGD008941 |
Inflammatory linear verrucous epidermal nevus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0474496 |
BXGD008952 |
Diarrhea and vomiting, symptom |
Pathological Conditions, Signs and Symptoms |
| C0474808 |
BXGD008959 |
Follicular neoplasm |
Neoplasms |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0476254 |
BXGD008984 |
Dyslexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0496899 |
BXGD009046 |
Benign neoplasm of brain, unspecified |
Neoplasms; Nervous System Diseases |
| C0496930 |
BXGD009051 |
Neoplasm of uncertain or unknown behavior of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0496956 |
BXGD009052 |
Neoplasm of uncertain or unknown behavior of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0497552 |
BXGD009067 |
Congenital neurologic anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0520679 |
BXGD009101 |
Sleep Apnea, Obstructive |
Respiratory Tract Diseases; Nervous System Diseases |
| C0521158 |
BXGD009130 |
Recurrent tumor |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0525045 |
BXGD009255 |
Mood Disorders |
Mental Disorders |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0546964 |
BXGD009348 |
Genu recurvatum |
|
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0553723 |
BXGD009416 |
Squamous cell carcinoma of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0555198 |
BXGD009432 |
Malignant Glioma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0558165 |
BXGD009449 |
Curly hair (finding) |
|
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0587248 |
BXGD009617 |
Costello syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0596321 |
BXGD009642 |
Chemical Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0597984 |
BXGD009660 |
Biliary stricture |
Digestive System Diseases |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677776 |
BXGD009728 |
Hereditary Breast and Ovarian Cancer Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases |
| C0677886 |
BXGD009734 |
Epithelial ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0677898 |
BXGD009735 |
invasive cancer |
Neoplasms |
| 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 |
| C0684337 |
BXGD009796 |
Ewings sarcoma-primitive neuroectodermal tumor (PNET) |
Neoplasms |
| C0685938 |
BXGD009829 |
Malignant neoplasm of gastrointestinal tract |
Digestive System Diseases; Neoplasms |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699743 |
BXGD009862 |
Congenital muscular dystrophy (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0699889 |
BXGD009870 |
Malignant Female Reproductive System Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0699893 |
BXGD009871 |
Skin carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0740457 |
BXGD010000 |
Malignant neoplasm of kidney |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0750929 |
BXGD010256 |
Arnold-Chiari Malformation, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0750935 |
BXGD010257 |
Cerebral Astrocytoma |
Neoplasms |
| C0750974 |
BXGD010270 |
Brain Tumor, Primary |
Neoplasms; Nervous System Diseases |
| C0750977 |
BXGD010271 |
Recurrent Brain Neoplasm |
Neoplasms; Nervous System Diseases |
| C0750979 |
BXGD010272 |
Primary malignant neoplasm of brain |
Neoplasms; Nervous System Diseases |
| C0751606 |
BXGD010523 |
Adult Acute Lymphocytic Leukemia |
|
| C0751690 |
BXGD010553 |
Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| C0851140 |
BXGD010916 |
Carcinoma in situ of uterine cervix |
Neoplasms |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0853105 |
BXGD010966 |
Penis carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0858252 |
BXGD011172 |
Breast adenocarcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0862506 |
BXGD011261 |
Borderline ovarian tumour |
|
| C0868908 |
BXGD011302 |
Pancolitis |
Digestive System Diseases |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0878500 |
BXGD011365 |
Intraepithelial Neoplasia |
Neoplasms |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917799 |
BXGD011410 |
Hypersomnia |
Nervous System Diseases; Mental Disorders |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0919976 |
BXGD011450 |
Renal cancer metastatic |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0919997 |
BXGD011452 |
Thickened Achilles tendon |
|
| C0948187 |
BXGD011513 |
Tracheomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases |
| C1112705 |
BXGD011681 |
Nuclear non-senile cataract |
Eye Diseases |
| C1136084 |
BXGD011708 |
Plasma cell dyscrasia |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C1136085 |
BXGD011709 |
Monoclonal Gammapathies |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1153706 |
BXGD011769 |
Endometrial adenocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1176475 |
BXGD011798 |
Ductal Carcinoma |
Neoplasms |
| C1257925 |
BXGD011814 |
Mammary Carcinoma, Animal |
Neoplasms; Animal Diseases |
| C1257931 |
BXGD011815 |
Mammary Neoplasms, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C1258215 |
BXGD011824 |
Ileus |
Digestive System Diseases |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1266010 |
BXGD011933 |
Papillary transitional cell neoplasm of low malignant potential |
|
| C1266050 |
BXGD011945 |
Poorly Differentiated Thyroid Carcinoma |
Neoplasms; Endocrine System Diseases |
| C1266065 |
BXGD011948 |
Eccrine porocarcinoma |
Neoplasms |
| C1266146 |
BXGD011977 |
Adenomyoepithelioma |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1275081 |
BXGD012056 |
Cardio-facio-cutaneous syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C1275278 |
BXGD012074 |
Extraskeletal Myxoid Chondrosarcoma |
Neoplasms |
| C1298180 |
BXGD012246 |
Single tumor |
|
| C1301034 |
BXGD012282 |
Pancreatic intraepithelial neoplasia |
Neoplasms |
| C1301194 |
BXGD012284 |
Salivary duct carcinoma |
Neoplasms |
| C1302401 |
BXGD012303 |
Adenoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1306341 |
BXGD012360 |
Mental handicap |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1306710 |
BXGD012372 |
Facial asymmetry |
Pathological Conditions, Signs and Symptoms |
| C1319315 |
BXGD012415 |
Adenocarcinoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1321872 |
BXGD012446 |
Stage IV Skin Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332460 |
BXGD012530 |
Barrett's Adenocarcinoma |
|
| C1332899 |
BXGD012551 |
Cerebellar Glioblastoma |
|
| C1332922 |
BXGD012556 |
Cervical Squamous Intraepithelial Neoplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1332995 |
BXGD012575 |
Childhood Pilocytic Astrocytoma |
Neoplasms |
| C1333015 |
BXGD012581 |
Childhood Kidney Wilms Tumor |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1333990 |
BXGD012670 |
Hereditary Nonpolyposis Colorectal Cancer |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C1333992 |
BXGD012672 |
Hereditary Ovarian Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1334011 |
BXGD012676 |
High Grade Cervical Intraepithelial Neoplasia |
Neoplasms |
| C1334015 |
BXGD012677 |
High Grade Intraepithelial Neoplasia |
Neoplasms |
| C1334920 |
BXGD012745 |
Adenocarcinoma of the nasal cavity |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1336078 |
BXGD012830 |
Papillary renal cell carcinoma, sporadic |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1336527 |
BXGD012847 |
Carcinoma of urinary bladder, superficial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1367536 |
BXGD012884 |
Nasopharyngeal Angiofibroma |
Neoplasms |
| C1368683 |
BXGD012900 |
Epithelioma |
Neoplasms |
| C1368911 |
BXGD012906 |
Papillary urothelial carcinoma |
|
| C1378703 |
BXGD012933 |
Renal carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1398312 |
BXGD012999 |
Narrow palate |
|
| C1402291 |
BXGD013015 |
Pigmented lesions |
|
| C1412036 |
BXGD013053 |
Anal squamous cell carcinoma |
Digestive System Diseases; Neoplasms |
| C1456781 |
BXGD013123 |
Benign melanocytic nevus |
Neoplasms |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1512127 |
BXGD013185 |
HER2 gene amplification |
|
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1512419 |
BXGD013189 |
Hereditary Melanoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases |
| C1512981 |
BXGD013196 |
Mammary Tumorigenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1513734 |
BXGD013199 |
Solid/Multicystic Ameloblastoma |
Neoplasms |
| C1519346 |
BXGD013235 |
Skin Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1527349 |
BXGD013277 |
Ductal Breast Carcinoma |
Neoplasms |
| C1527390 |
BXGD013285 |
Neoplasms, Intracranial |
Neoplasms; Nervous System Diseases |
| C1527404 |
BXGD013289 |
Female Pseudo-Turner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1533161 |
BXGD013309 |
Eccrine Poroma |
Neoplasms |
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1704327 |
BXGD013546 |
Bone Sarcoma |
Neoplasms; Musculoskeletal Diseases |
| C1704375 |
BXGD013551 |
Hypophosphatemic Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C1708349 |
BXGD013597 |
Hereditary Diffuse Gastric Cancer |
Digestive System Diseases; Neoplasms |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1833921 |
BXGD013946 |
Familial medullary thyroid carcinoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836940 |
BXGD014182 |
Thickened nuchal skin fold |
|
| C1837142 |
BXGD014201 |
Poor suck |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837279 |
BXGD014217 |
Hypoplastic toenails |
|
| C1837761 |
BXGD014266 |
Narrow nasal ridge |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840319 |
BXGD014446 |
Redundant neck skin |
|
| C1842036 |
BXGD014490 |
GIANT PIGMENTED HAIRY NEVUS |
Neoplasms; Skin and Connective Tissue Diseases |
| C1843181 |
BXGD014564 |
Noonan syndrome-like disorder with loose anagen hair |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1844505 |
BXGD014633 |
Pointed chin |
|
| C1844573 |
BXGD014646 |
Large earlobe |
|
| C1844577 |
BXGD014647 |
Hyperextensibility of the finger joints |
|
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1849677 |
BXGD015074 |
Numerous nevi |
Neoplasms |
| C1849955 |
BXGD015094 |
Limited elbow movement |
|
| C1851710 |
BXGD015226 |
LATERAL MENINGOCELE SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1853237 |
BXGD015319 |
Isolated cases |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1853737 |
BXGD015356 |
Prominent occiput |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1856963 |
BXGD015662 |
Fragile nails |
Pathological Conditions, Signs and Symptoms |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857539 |
BXGD015716 |
Deep palmar crease |
|
| C1857953 |
BXGD015759 |
Deep plantar creases |
|
| C1858036 |
BXGD015763 |
Periorbital fullness |
|
| C1860236 |
BXGD015969 |
Irregular hyperpigmentation |
Skin and Connective Tissue Diseases |
| C1860245 |
BXGD015972 |
Cranial asymmetry |
|
| C1860991 |
BXGD016009 |
NOONAN SYNDROME 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1861305 |
BXGD016027 |
TARSAL-CARPAL COALITION SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1863753 |
BXGD016197 |
LIMB-MAMMARY SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1864903 |
BXGD016270 |
Hyperinsulinemic hypoglycemia |
Nutritional and Metabolic Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1866231 |
BXGD016388 |
Full cheeks |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C1868678 |
BXGD016522 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1868683 |
BXGD016526 |
B-CELL MALIGNANCY, LOW-GRADE |
|
| C1955869 |
BXGD016612 |
Malformations of Cortical Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1959632 |
BXGD016645 |
Plasma Cell Neoplasm |
Neoplasms |
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1968782 |
BXGD016735 |
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES |
Musculoskeletal Diseases; Nervous System Diseases |
| C2145472 |
BXGD016931 |
Urothelial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2243051 |
BXGD017008 |
Large head (disorder) |
|
| C2314896 |
BXGD017019 |
Familial Atypical Mole Melanoma Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2347748 |
BXGD017041 |
Adult Erythroleukemia |
|
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C2674737 |
BXGD017257 |
Abnormality of finger |
Musculoskeletal Diseases |
| C2674738 |
BXGD017258 |
Abnormality of toe |
Musculoskeletal Diseases |
| C2717836 |
BXGD017510 |
Steroid Sulfatase Deficiency Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C2717981 |
BXGD017520 |
Poroma |
Neoplasms |
| C2748652 |
BXGD017604 |
Large face |
|
| C2749369 |
BXGD017619 |
Prominence of the premaxilla |
|
| C2828150 |
BXGD017802 |
HPV positive oropharyngeal squamous cell carcinoma |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931367 |
BXGD018010 |
Thyroid cancer, follicular |
Neoplasms |
| C2931658 |
BXGD018044 |
Phacomatosis pigmentokeratotica |
Neoplasms; Skin and Connective Tissue Diseases |
| C2931673 |
BXGD018046 |
Ceroid lipofuscinosis, neuronal 1, infantile |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3179502 |
BXGD018553 |
Linear Verrucous Epidermal Nevus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C3272841 |
BXGD018637 |
MUTYH-Associate Polyposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C3277679 |
BXGD018716 |
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC |
|
| C3277753 |
BXGD018722 |
Deep-set nails |
|
| C3278024 |
BXGD018727 |
Enlarged cerebellum |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3495721 |
BXGD019001 |
Spitzoid melanoma |
|
| C3501843 |
BXGD019027 |
Nonmedullary Thyroid Carcinoma |
Neoplasms; Endocrine System Diseases |
| C3501846 |
BXGD019029 |
Noonan-Like Syndrome With Loose Anagen Hair |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C3536983 |
BXGD019078 |
Familial Hypophosphatemic Rickets |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C3539781 |
BXGD019086 |
Progressive cGVHD |
|
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3665593 |
BXGD019294 |
Melanocytic nevus of skin |
Neoplasms |
| C3669246 |
BXGD019326 |
Mammary adenocarcinoma |
|
| C3714514 |
BXGD019409 |
Infection |
Infections |
| C3714644 |
BXGD019422 |
Thymus Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C3714651 |
BXGD019423 |
Follicular Variant Thyroid Gland Papillary Carcinoma |
Neoplasms; Endocrine System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C3805278 |
BXGD019474 |
Extrahepatic Cholangiocarcinoma |
Neoplasms |
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C3808548 |
BXGD019549 |
Poor respiratory effort |
|
| C3811653 |
BXGD019662 |
Experimental Organism Basal Cell Carcinoma |
Neoplasms |
| C3854181 |
BXGD019825 |
Nevus sebaceous |
Neoplasms |
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C3887461 |
BXGD019876 |
Head and Neck Carcinoma |
Neoplasms |
| C3887638 |
BXGD019906 |
Failure to thrive in infant |
Pathological Conditions, Signs and Symptoms |
| C3887949 |
BXGD019932 |
Apparent mineralocorticoid excess |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3888018 |
BXGD019942 |
Congenital Hyperinsulinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases |
| C3898127 |
BXGD020061 |
Non-Metastatic Childhood Soft Tissue Sarcoma |
|
| C3900097 |
BXGD020105 |
Adult Penile Carcinoma |
Neoplasms; Male Urogenital Diseases |
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4011754 |
BXGD020115 |
Nevus, Keratinocytic, Nonepidermolytic |
Neoplasms |
| C4016398 |
BXGD020323 |
COSTELLO SYNDROME, SEVERE |
|
| C4019039 |
BXGD020465 |
Intestinal obstruction co-occurrent and due to decreased peristalsis |
Digestive System Diseases |
| C4020895 |
BXGD020490 |
Genitourinary dysplasia |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4021998 |
BXGD020862 |
Lack of skin elasticity |
|
| C4022025 |
BXGD020875 |
Asymmetric growth |
|
| C4023551 |
BXGD021215 |
Abnormality of dental color |
|
| C4024878 |
BXGD021453 |
Generalized hyperpigmentation |
Skin and Connective Tissue Diseases |
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4082172 |
BXGD022086 |
Porencephalic cyst |
|
| C4086152 |
BXGD022123 |
Childhood Astrocytoma |
Neoplasms |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4225426 |
BXGD022276 |
THYROID CANCER, NONMEDULLARY, 2 |
|
| C4225656 |
BXGD022285 |
SPITZ NEVUS, SOMATIC |
|
| C4225657 |
BXGD022286 |
NEVUS SPILUS, SOMATIC |
|
| C4283978 |
BXGD022427 |
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus |
|
| C4284013 |
BXGD022428 |
Primary cholangiocarcinoma of intrahepatic biliary tract |
Neoplasms |
| C4520840 |
BXGD023041 |
Erythroleukemia (Erythroid/Myeloid) |
Neoplasms; Hemic and Lymphatic Diseases |
| C4522181 |
BXGD023074 |
Brachial Amyotrophic Diplegia |
Nervous System Diseases |
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551602 |
BXGD023369 |
Noonan Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C4551683 |
BXGD023389 |
Adrenal Gland Pheochromocytoma |
Neoplasms; Endocrine System Diseases |
| C4551686 |
BXGD023391 |
Malignant neoplasm of soft tissue |
Neoplasms |
| C4551687 |
BXGD023392 |
Sarcoma of soft tissue |
Neoplasms |
| C4552097 |
BXGD023487 |
Nevus Sebaceus of Jadassohn |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4704874 |
BXGD023682 |
Mammary Carcinoma, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C4721413 |
BXGD023737 |
Juvenile angiofibroma |
Neoplasms; Cardiovascular Diseases |
| C4721530 |
BXGD023750 |
Congenital hypotrichia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C4721532 |
BXGD023752 |
Lymphoma, Non-Hodgkin, Familial |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C4721555 |
BXGD023755 |
Autoimmune hepatitis |
Digestive System Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4727070 |
BXGD023851 |
Advanced Carcinoma |
|
| C4745063 |
BXGD023956 |
Biliary Tract Carcinoma |
|