| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003504 |
BXGD000202 |
Aortic Valve Insufficiency |
Cardiovascular Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003962 |
BXGD000244 |
Ascites |
Pathological Conditions, Signs and Symptoms |
| C0004135 |
BXGD000257 |
Ataxia Telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0004763 |
BXGD000289 |
Barrett Esophagus |
Digestive System Diseases; Neoplasms |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007113 |
BXGD000430 |
Rectal Carcinoma |
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 |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; 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 |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023493 |
BXGD001672 |
Adult T-Cell Lymphoma/Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System 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 |
| 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 |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026277 |
BXGD001899 |
Mixed Salivary Gland Tumor |
Neoplasms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027126 |
BXGD001976 |
Myotonic Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027708 |
BXGD002025 |
Nephroblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0031269 |
BXGD002297 |
Peutz-Jeghers Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036220 |
BXGD002587 |
Kaposi Sarcoma |
Neoplasms; Infections |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0042258 |
BXGD002973 |
Vaginal Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0079541 |
BXGD003081 |
Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0153690 |
BXGD003684 |
Secondary malignant neoplasm of bone |
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206682 |
BXGD004237 |
Follicular thyroid carcinoma |
Neoplasms |
| C0206694 |
BXGD004245 |
Mucoepidermoid Carcinoma |
Neoplasms |
| C0206708 |
BXGD004256 |
Cervical Intraepithelial Neoplasia |
Neoplasms |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238461 |
BXGD004936 |
Anaplastic thyroid carcinoma |
Neoplasms |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0266174 |
BXGD005626 |
Duodenal atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279680 |
BXGD006680 |
Transitional cell carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0280631 |
BXGD006752 |
Leiomyosarcoma of uterus |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0334108 |
BXGD006994 |
Multiple polyps |
Pathological Conditions, Signs and Symptoms |
| C0334588 |
BXGD007128 |
Giant Cell Glioblastoma |
Neoplasms |
| C0340375 |
BXGD007326 |
Subaortic stenosis |
Cardiovascular Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0685695 |
BXGD009813 |
Abnormal lung lobation |
Respiratory Tract Diseases |
| 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 |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; 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 |
| C1257915 |
BXGD011813 |
Intestinal Polyposis |
Digestive System Diseases |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1306837 |
BXGD012377 |
Papillary Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| 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 |
| C1335177 |
BXGD012771 |
Ovarian Serous Adenocarcinoma |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1541316 |
BXGD013350 |
Adult Giant Cell Glioblastoma |
Neoplasms |
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1850343 |
BXGD015131 |
Mosaic variegated aneuploidy syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1861975 |
BXGD016095 |
Cafe au lait spots, multiple |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1963099 |
BXGD016682 |
Myelodysplasia, CTCAE |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931286 |
BXGD017997 |
Warburton Anyane Yeboa syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3250443 |
BXGD018584 |
MYOTONIC DYSTROPHY 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3899659 |
BXGD020093 |
Childhood Giant Cell Glioblastoma |
Neoplasms |
| C4023616 |
BXGD021229 |
Abnormality of immune system physiology |
|
| C4023676 |
BXGD021237 |
Increased nuchal translucency |
Pathological Conditions, Signs and Symptoms |
| C4024989 |
BXGD021515 |
Hereditary nonpolyposis colorectal carcinoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4551972 |
BXGD023458 |
Mosaic variegated aneuploidy syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C4552766 |
BXGD023523 |
Miscarriage |
Female Urogenital Diseases and Pregnancy Complications |
| C4721411 |
BXGD023735 |
Osteolysis |
Musculoskeletal 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 |
|
| C4733331 |
BXGD023918 |
mosaic variegated aneuploidy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |