| C0000731 |
BXGD000002 |
Abdomen distended |
Digestive System Diseases |
| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001623 |
BXGD000066 |
Adrenal gland hypofunction |
Endocrine System Diseases |
| C0001815 |
BXGD000078 |
Primary Myelofibrosis |
Hemic and Lymphatic Diseases |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002793 |
BXGD000130 |
Anaplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0002874 |
BXGD000134 |
Aplastic Anemia |
Hemic and Lymphatic Diseases |
| C0003076 |
BXGD000171 |
Aniridia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003507 |
BXGD000203 |
Aortic Valve Stenosis |
Cardiovascular Diseases |
| C0003962 |
BXGD000244 |
Ascites |
Pathological Conditions, Signs and Symptoms |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004509 |
BXGD000275 |
Azoospermia |
Male Urogenital Diseases |
| C0004903 |
BXGD000293 |
Beckwith-Wiedemann Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0005612 |
BXGD000317 |
Birth Weight |
Pathological Conditions, Signs and Symptoms |
| C0005699 |
BXGD000325 |
Blast Phase |
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006288 |
BXGD000391 |
Bronchopulmonary Sequestration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007095 |
BXGD000423 |
Carcinoid Tumor |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009376 |
BXGD000603 |
Colonic Polyps |
Pathological Conditions, Signs and Symptoms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0013080 |
BXGD000797 |
Down Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014170 |
BXGD000902 |
Endometrial Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0014175 |
BXGD000904 |
Endometriosis |
Female Urogenital Diseases and Pregnancy Complications |
| C0014457 |
BXGD000915 |
Eosinophilia |
Hemic and Lymphatic Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0016059 |
BXGD001043 |
Fibrosis |
Pathological Conditions, Signs and Symptoms |
| C0017075 |
BXGD001089 |
Ganglioneuroma |
Neoplasms |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018051 |
BXGD001167 |
Gonadal Dysgenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0018054 |
BXGD001168 |
Gonadal Dysgenesis, 46,XY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0018418 |
BXGD001192 |
Gynecomastia |
Skin and Connective Tissue 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 |
| C0018923 |
BXGD001248 |
Hemangiosarcoma |
Neoplasms |
| C0018939 |
BXGD001253 |
Hematological Disease |
Hemic and Lymphatic Diseases |
| C0018965 |
BXGD001258 |
Hematuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019061 |
BXGD001273 |
Hemolytic-Uremic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019284 |
BXGD001312 |
Diaphragmatic Hernia |
Pathological Conditions, Signs and Symptoms |
| C0019562 |
BXGD001336 |
Von Hippel-Lindau Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C0019829 |
BXGD001350 |
Hodgkin Disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020502 |
BXGD001410 |
Hyperparathyroidism |
Endocrine System Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0021364 |
BXGD001500 |
Male infertility |
Male Urogenital Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022665 |
BXGD001573 |
Kidney Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023051 |
BXGD001602 |
Laryngeal Diseases |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023439 |
BXGD001645 |
Leukemia, Eosinophilic, Acute |
Neoplasms |
| C0023440 |
BXGD001646 |
Acute Erythroblastic Leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023448 |
BXGD001649 |
Lymphoid leukemia |
Neoplasms; Immune System Diseases; 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 |
| C0023464 |
BXGD001655 |
Acute biphenotypic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023470 |
BXGD001659 |
Myeloid Leukemia |
Neoplasms |
| C0023473 |
BXGD001661 |
Myeloid Leukemia, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023487 |
BXGD001669 |
Acute Promyelocytic Leukemia |
Neoplasms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024115 |
BXGD001732 |
Lung diseases |
Respiratory Tract Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0024790 |
BXGD001804 |
Paroxysmal nocturnal hemoglobinuria |
Hemic and Lymphatic Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025286 |
BXGD001850 |
Meningioma |
Neoplasms; Nervous System Diseases |
| C0025322 |
BXGD001863 |
Premature Menopause |
Female Urogenital Diseases and Pregnancy Complications |
| 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 |
| C0025500 |
BXGD001874 |
Mesothelioma |
Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0026987 |
BXGD001957 |
Myelofibrosis |
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases |
| C0026998 |
BXGD001959 |
Acute Myeloid Leukemia, M1 |
Neoplasms |
| C0027022 |
BXGD001962 |
Myeloproliferative disease |
Hemic and Lymphatic Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027668 |
BXGD002019 |
Neoplasms, Vascular Tissue |
Neoplasms |
| C0027708 |
BXGD002025 |
Nephroblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027809 |
BXGD002040 |
Neurilemmoma |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027830 |
BXGD002046 |
neurofibroma |
Neoplasms; Nervous System Diseases |
| C0027859 |
BXGD002052 |
Acoustic Neuroma |
Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0031149 |
BXGD002290 |
Peritoneal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0033804 |
BXGD002426 |
Pseudohermaphroditism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0033860 |
BXGD002438 |
Psoriasis |
Skin and Connective Tissue Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0035078 |
BXGD002505 |
Kidney Failure |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0035920 |
BXGD002570 |
Rubella |
Infections |
| C0036220 |
BXGD002587 |
Kaposi Sarcoma |
Neoplasms; Infections |
| C0036429 |
BXGD002614 |
Sclerosis |
Pathological Conditions, Signs and Symptoms |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036769 |
BXGD002634 |
Sertoli Cell Tumor |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0039590 |
BXGD002822 |
Testicular Neoplasms |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0040761 |
BXGD002883 |
Transposition of Great Vessels |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0041408 |
BXGD002923 |
Turner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0042063 |
BXGD002953 |
Urogenital Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0079218 |
BXGD003066 |
Fibromatosis, Aggressive |
Neoplasms |
| C0085136 |
BXGD003131 |
Central Nervous System Neoplasms |
Neoplasms; Nervous System Diseases |
| C0085215 |
BXGD003141 |
Ovarian Failure, Premature |
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 |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0086367 |
BXGD003276 |
Gonadotropin-Resistant Ovary Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0086445 |
BXGD003285 |
Idiopathic Membranous Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151639 |
BXGD003452 |
Decreased fertility in females |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152101 |
BXGD003540 |
Hypoplastic Left Heart Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0152427 |
BXGD003590 |
Polydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0153594 |
BXGD003669 |
Malignant neoplasm of testis |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C0153676 |
BXGD003679 |
Secondary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0158570 |
BXGD003892 |
Vascular anomaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0162678 |
BXGD003974 |
Neurofibromatoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0178664 |
BXGD004032 |
Glomerulosclerosis (disorder) |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205647 |
BXGD004099 |
Follicular adenoma |
Neoplasms |
| C0205682 |
BXGD004105 |
Waist-Hip Ratio |
|
| C0205851 |
BXGD004132 |
Germ cell tumor |
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 |
| C0206141 |
BXGD004160 |
Idiopathic Hypereosinophilic Syndrome |
Hemic and Lymphatic Diseases |
| C0206658 |
BXGD004221 |
Smooth Muscle Tumor |
Neoplasms |
| C0206661 |
BXGD004224 |
Gonadoblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0206687 |
BXGD004242 |
Carcinoma, Endometrioid |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0206724 |
BXGD004269 |
Sex Cord-Stromal Tumor |
Neoplasms |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220615 |
BXGD004298 |
Adult Acute Myeloblastic Leukemia |
Neoplasms |
| C0220621 |
BXGD004300 |
Childhood Acute Myeloid Leukemia |
Neoplasms |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0220810 |
BXGD004346 |
Congenital defects |
|
| C0221353 |
BXGD004445 |
Horseshoe Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0232939 |
BXGD004568 |
Primary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238198 |
BXGD004893 |
Gastrointestinal Stromal Tumors |
Digestive System Diseases; Neoplasms |
| C0238395 |
BXGD004922 |
Male Pseudohermaphroditism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0241011 |
BXGD005073 |
Low serum estradiol levels |
|
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0242404 |
BXGD005162 |
Myofibroblastoma |
Neoplasms |
| C0242596 |
BXGD005181 |
Neoplasm, Residual |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0260037 |
BXGD005227 |
Multiple tumors |
Neoplasms |
| C0263666 |
BXGD005341 |
Dermatomyositis, Childhood Type |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System 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 |
| C0265699 |
BXGD005567 |
Congenital hernia of foramen of Morgagni |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0265700 |
BXGD005568 |
Congenital hernia of foramen of Bochdalek |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266292 |
BXGD005643 |
Congenital anomaly of the kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266360 |
BXGD005655 |
Streak gonad |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266361 |
BXGD005656 |
True Hermaphroditism (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine 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 |
| C0266371 |
BXGD005659 |
Streak ovary |
|
| C0266427 |
BXGD005665 |
Testicular regression syndrome |
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 |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266573 |
BXGD005696 |
Congenital ptosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0268731 |
BXGD006029 |
Renal glomerular disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0268747 |
BXGD006034 |
Diffuse mesangial sclerosis (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0269209 |
BXGD006057 |
Hydrometrocolpos |
Female Urogenital Diseases and Pregnancy Complications |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0271650 |
BXGD006227 |
Impaired glucose tolerance |
Nutritional and Metabolic Diseases |
| C0278877 |
BXGD006608 |
Adult Meningioma |
Neoplasms; Nervous System Diseases |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0278883 |
BXGD006614 |
Metastatic melanoma |
Neoplasms |
| C0278996 |
BXGD006621 |
Malignant Head and Neck Neoplasm |
Neoplasms |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279014 |
BXGD006623 |
Childhood Germ Cell Tumor |
Neoplasms |
| C0279068 |
BXGD006624 |
Childhood Solid Neoplasm |
|
| 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 |
| C0280099 |
BXGD006712 |
Adult Solid Neoplasm |
|
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0280324 |
BXGD006740 |
Laryngeal Squamous Cell Carcinoma |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0281508 |
BXGD006777 |
Desmoplastic Small Round Cell Tumor |
Neoplasms |
| C0281842 |
BXGD006787 |
Abnormality of the fallopian tube |
|
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0302885 |
BXGD006863 |
Testicular dysgenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0332890 |
BXGD006909 |
Congenital hemihypertrophy |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0334121 |
BXGD006996 |
Inflammatory Myofibroblastic Tumor |
Pathological Conditions, Signs and Symptoms |
| C0334359 |
BXGD007044 |
Papillary serous cystadenocarcinoma |
Neoplasms |
| C0334463 |
BXGD007076 |
Malignant Fibrous Histiocytoma |
Neoplasms |
| C0334488 |
BXGD007088 |
Clear cell sarcoma of kidney |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0334513 |
BXGD007097 |
Sarcomatoid Mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0334588 |
BXGD007128 |
Giant Cell Glioblastoma |
Neoplasms |
| C0334695 |
BXGD007152 |
Endometrial Stromal Tumors |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0344542 |
BXGD007692 |
Aniridia type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0345309 |
BXGD007725 |
Hypoplasia of vagina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0345905 |
BXGD007746 |
Intrahepatic Cholangiocarcinoma |
Neoplasms |
| C0345967 |
BXGD007756 |
Malignant mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0346109 |
BXGD007779 |
Malignant Mesothelioma of Peritoneum |
Neoplasms; Respiratory Tract Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0346976 |
BXGD007838 |
Secondary malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0346990 |
BXGD007842 |
Carcinomatosis of peritoneal cavity |
Digestive System Diseases; Neoplasms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349636 |
BXGD007941 |
Pre B-cell acute lymphoblastic leukemia |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376544 |
BXGD008001 |
Hematopoietic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0403397 |
BXGD008277 |
Steroid-resistant nephrotic syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0431663 |
BXGD008700 |
Bilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0445118 |
BXGD008818 |
Nephrotic range proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0497156 |
BXGD009053 |
Lymphadenopathy |
Hemic and Lymphatic Diseases |
| C0520743 |
BXGD009107 |
Mediastinal lymphadenopathy |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0553580 |
BXGD009399 |
Ewings sarcoma |
Neoplasms |
| C0555198 |
BXGD009432 |
Malignant Glioma |
Neoplasms |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598894 |
BXGD009673 |
Monocytic leukemia |
Neoplasms; Hemic and Lymphatic 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 |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0687120 |
BXGD009837 |
Nephronophthisis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0700225 |
BXGD009882 |
Serum creatinine raised |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0740457 |
BXGD010000 |
Malignant neoplasm of kidney |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0751356 |
BXGD010406 |
Idiopathic Inflammatory Myopathies |
Musculoskeletal Diseases; Nervous System Diseases |
| C0751374 |
BXGD010418 |
Schwannomatosis, Plexiform |
Neoplasms |
| C0751606 |
BXGD010523 |
Adult Acute Lymphocytic Leukemia |
|
| C0751690 |
BXGD010553 |
Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| C0796074 |
BXGD010793 |
MOHR-TRANEBJAERG SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms |
| C0812413 |
BXGD010847 |
Malignant Pleural Mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0855197 |
BXGD011079 |
Malignant Testicular Germ Cell Tumor |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C0856742 |
BXGD011111 |
Post MI |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0862312 |
BXGD011259 |
Epithelioid mesothelioma, malignant |
Neoplasms |
| C0871470 |
BXGD011316 |
Systolic Pressure |
|
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0948896 |
BXGD011563 |
Primary hypogonadism |
Endocrine System Diseases |
| C0950121 |
BXGD011590 |
Denys-Drash Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0950122 |
BXGD011591 |
Frasier Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1257931 |
BXGD011815 |
Mammary Neoplasms, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C1258215 |
BXGD011824 |
Ileus |
Digestive System Diseases |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1262477 |
BXGD011882 |
Weight decreased |
Pathological Conditions, Signs and Symptoms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1292769 |
BXGD012230 |
Precursor B-cell lymphoblastic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| C1305904 |
BXGD012349 |
Familial hematuria |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1306571 |
BXGD012365 |
Hepatic Insufficiency |
Digestive System Diseases |
| C1306759 |
BXGD012374 |
Eosinophilic disorder |
Hemic and Lymphatic Diseases |
| C1318544 |
BXGD012401 |
M5b Acute differentiated monocytic leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C1319016 |
BXGD012408 |
Nephrogenic rest, intralobar |
|
| C1319315 |
BXGD012415 |
Adenocarcinoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1320468 |
BXGD012423 |
Nephrogenic rest |
|
| C1321884 |
BXGD012448 |
Atresia of vagina |
|
| C1328504 |
BXGD012469 |
Hormone refractory prostate cancer |
Neoplasms; Male Urogenital Diseases |
| C1332199 |
BXGD012500 |
Adult Desmoplastic Small Round Cell Tumor |
Neoplasms |
| C1332965 |
BXGD012565 |
Congenital Mesoblastic Nephroma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1332966 |
BXGD012566 |
Childhood Desmoplastic Small Round Cell Tumor |
Neoplasms |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1333003 |
BXGD012579 |
Childhood Kidney Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1333015 |
BXGD012581 |
Childhood Kidney Wilms Tumor |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1333468 |
BXGD012631 |
Esophageal Squamous Intraepithelial Neoplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1335976 |
BXGD012820 |
Skull Base Meningioma |
Neoplasms; Musculoskeletal Diseases; Nervous System Diseases |
| C1336708 |
BXGD012852 |
Testicular Germ Cell Tumor |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases |
| C1368683 |
BXGD012900 |
Epithelioma |
Neoplasms |
| C1377913 |
BXGD012929 |
Pleural Mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C1378703 |
BXGD012933 |
Renal carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1515283 |
BXGD013209 |
Testicular gonadoblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1518716 |
BXGD013227 |
Ovarian gonadoblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1540912 |
BXGD013349 |
Hypereosinophilic syndrome |
Hemic and Lymphatic Diseases |
| C1561643 |
BXGD013363 |
Chronic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| 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 |
| C1704377 |
BXGD013553 |
Bright Disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1762616 |
BXGD013753 |
Meningioma, benign, no ICD-O subtype |
Neoplasms; Nervous System Diseases |
| C1832671 |
BXGD013869 |
Dysfunction of lateral corticospinal tracts |
|
| C1834582 |
BXGD013982 |
MYELOPROLIFERATIVE SYNDROME, TRANSIENT |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C1835796 |
BXGD014048 |
Crossed fused renal ectopia |
|
| C1837026 |
BXGD014186 |
MEACHAM SYNDROME (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1837352 |
BXGD014223 |
Childhood onset |
|
| C1840452 |
BXGD014471 |
Hyaloideoretinal degeneration of Wagner |
Eye Diseases |
| C1848178 |
BXGD014909 |
Female external genitalia in individual with 46,XY karyotype |
|
| C1848873 |
BXGD014981 |
Abnormality of the diaphragm |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1855496 |
BXGD015502 |
Contiguous gene syndrome |
|
| C1856023 |
BXGD015565 |
Abnormal vagina morphology |
|
| C1858573 |
BXGD015809 |
Sparse pubic hair |
|
| C1858574 |
BXGD015810 |
Sparse axillary hair |
|
| C1859014 |
BXGD015843 |
Primary gonadal insufficiency |
|
| C1860268 |
BXGD015975 |
Gonadal tissue inappropriate for external genitalia or chromosomal sex |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1862265 |
BXGD016119 |
Increased circulating gonadotropin level |
Nervous System Diseases; Endocrine System Diseases |
| C1864445 |
BXGD016229 |
Histiocytosis with joint contractures and sensorineural deafness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases |
| C1868672 |
BXGD016519 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1879321 |
BXGD016572 |
Acute Myeloid Leukemia (AML-M2) |
Neoplasms |
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1961121 |
BXGD016675 |
Congenital vascular anomaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2347748 |
BXGD017041 |
Adult Erythroleukemia |
|
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C2673946 |
BXGD017234 |
Foveal hypoplasia (finding) |
|
| C2751824 |
BXGD017742 |
46, XY Disorders of Sex Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C2826025 |
BXGD017783 |
Mixed phenotype acute leukemia |
|
| C2861580 |
BXGD017813 |
Chronic myeloid leukemia, BCR/ABL-positive |
Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2930471 |
BXGD017887 |
Bilateral Wilms Tumor |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2930619 |
BXGD017890 |
Sex Differentiation Disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C2931245 |
BXGD017986 |
Bone Marrow failure syndromes |
|
| C2931803 |
BXGD018065 |
Deletion 11p13 |
Pathological Conditions, Signs and Symptoms |
| C2936694 |
BXGD018127 |
Swyer Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C2939461 |
BXGD018180 |
Myeloid neoplasm |
Neoplasms; Hemic and Lymphatic Diseases |
| C2986658 |
BXGD018234 |
Diffuse Intrinsic Pontine Glioma |
|
| C3151568 |
BXGD018443 |
NEPHROTIC SYNDROME, TYPE 4 |
|
| C3266102 |
BXGD018597 |
Steroid resistant nephrotic syndrome of childhood |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3469521 |
BXGD018910 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C3494522 |
BXGD018969 |
Hypergonadotropic Ovarian Failure, X-Linked |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C3501848 |
BXGD019031 |
Nephrosis, congenital |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3544205 |
BXGD019109 |
Ovarian clear cell carcinoma |
|
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3826743 |
BXGD019732 |
Anemia in children |
|
| C3839868 |
BXGD019788 |
Cytogenetically normal acute myeloid leukemia |
Neoplasms |
| C3887461 |
BXGD019876 |
Head and Neck Carcinoma |
Neoplasms |
| C3897558 |
BXGD020048 |
Soluble Interleukin 6 Receptor Measurement |
|
| C3897752 |
BXGD020054 |
Recurrent Childhood Glioblastoma |
|
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C3900101 |
BXGD020109 |
Adult Germ Cell Tumor |
Neoplasms |
| C4021107 |
BXGD020557 |
Non-obstructive azoospermia |
Male Urogenital Diseases |
| C4021550 |
BXGD020666 |
Elevated circulating follicle stimulating hormone level |
|
| C4021551 |
BXGD020667 |
Absence of secondary sex characteristics |
|
| C4021823 |
BXGD020808 |
Ambiguous genitalia, male |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C4021972 |
BXGD020849 |
Urogenital sinus anomaly |
|
| C4022996 |
BXGD021057 |
Abnormal sex determination |
|
| C4023101 |
BXGD021106 |
Elevated circulating luteinizing hormone level |
|
| C4024632 |
BXGD021353 |
Gonadal dysgenesis with female appearance, male |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C4024748 |
BXGD021402 |
Aplasia/Hypoplasia of the iris |
|
| C4024996 |
BXGD021518 |
Aplasia/Hypoplasia of the lungs |
|
| C4025698 |
BXGD021738 |
Abnormality of the peritoneum |
|
| C4025749 |
BXGD021773 |
Abnormality of the spleen |
|
| C4025860 |
BXGD021833 |
Hearing abnormality |
|
| C4025891 |
BXGD021849 |
Ambiguous genitalia, female |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C4025892 |
BXGD021850 |
Abnormality of the labia |
|
| C4025895 |
BXGD021851 |
Abnormality of the scrotum |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4073137 |
BXGD022045 |
Decreased serum testosterone level |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4282128 |
BXGD022420 |
PATENT DUCTUS ARTERIOSUS 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4287589 |
BXGD022469 |
Serous Tubal Intraepithelial Carcinoma |
|
| C4288305 |
BXGD022480 |
Recurrent Glioblastoma |
Neoplasms |
| C4510744 |
BXGD022986 |
46,XY partial gonadal dysgenesis |
|
| C4520840 |
BXGD023041 |
Erythroleukemia (Erythroid/Myeloid) |
Neoplasms; Hemic and Lymphatic Diseases |
| C4521042 |
BXGD023055 |
Complete Trisomy 21 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C4521256 |
BXGD023058 |
Glomerulopathy Assessment |
|
| C4551493 |
BXGD023318 |
Situs inversus totalis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4551687 |
BXGD023392 |
Sarcoma of soft tissue |
Neoplasms |
| C4551835 |
BXGD023415 |
Intralobar nephroblastomatosis |
|
| C4551905 |
BXGD023438 |
Pulmonary Venous Return Anomaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases |
| C4552079 |
BXGD023483 |
Premature Ovarian Failure 1 |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4684861 |
BXGD023572 |
Recurrent Malignant Glioma |
Neoplasms |
| C4703595 |
BXGD023662 |
Increased proinsulin:insulin ratio |
|
| C4704874 |
BXGD023682 |
Mammary Carcinoma, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |