| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0002888 |
BXGD000145 |
Anemia, Megaloblastic |
Hemic and Lymphatic Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0004158 |
BXGD000261 |
Athetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0004565 |
BXGD000276 |
Melanoma, B16 |
Neoplasms |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006413 |
BXGD000397 |
Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007621 |
BXGD000468 |
Neoplastic Cell Transformation |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0008928 |
BXGD000576 |
Cleidocranial Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011615 |
BXGD000738 |
Dermatitis, Atopic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013146 |
BXGD000801 |
Drug abuse |
Chemically-Induced Disorders; Mental Disorders |
| 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 |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0014868 |
BXGD000965 |
Esophagitis |
Digestive System Diseases |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016522 |
BXGD001067 |
Foramen Ovale, Patent |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017565 |
BXGD001118 |
Gingival Hemorrhage |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018055 |
BXGD001169 |
Gonadal Dysgenesis, Mixed |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System 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 |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019340 |
BXGD001321 |
Herpes NOS |
Infections |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020225 |
BXGD001367 |
Hydranencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0021841 |
BXGD001519 |
Intestinal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0023283 |
BXGD001629 |
Leishmaniasis, Cutaneous |
Infections; Skin and Connective Tissue Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023487 |
BXGD001669 |
Acute Promyelocytic Leukemia |
Neoplasms |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024131 |
BXGD001736 |
Lupus Vulgaris |
Infections; Skin and Connective Tissue Diseases |
| C0024138 |
BXGD001738 |
Lupus Erythematosus, Discoid |
Skin and Connective Tissue Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024530 |
BXGD001783 |
Malaria |
Infections |
| C0024537 |
BXGD001786 |
Malaria, Vivax |
Infections |
| C0025202 |
BXGD001832 |
melanoma |
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 |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026936 |
BXGD001950 |
Mycoplasma Infections |
Infections |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030524 |
BXGD002236 |
Paratuberculosis |
Infections; Animal Diseases |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0033999 |
BXGD002448 |
Pterygium |
Eye Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0035579 |
BXGD002560 |
Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0036202 |
BXGD002581 |
Sarcoidosis |
Hemic and Lymphatic Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040761 |
BXGD002883 |
Transposition of Great Vessels |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0041105 |
BXGD002895 |
Trismus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0080178 |
BXGD003107 |
Spina Bifida |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085762 |
BXGD003251 |
Alcohol abuse |
Chemically-Induced Disorders; Mental Disorders |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149925 |
BXGD003387 |
Small cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0151603 |
BXGD003445 |
Anasarca |
Pathological Conditions, Signs and Symptoms |
| C0151818 |
BXGD003480 |
Opisthotonus |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0153676 |
BXGD003679 |
Secondary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0158113 |
BXGD003875 |
Contracture of joint of hand |
Musculoskeletal Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0201836 |
BXGD004052 |
Alanine aminotransferase measurement |
|
| C0201874 |
BXGD004054 |
Amino acids measurement |
|
| C0206659 |
BXGD004222 |
Embryonal Carcinoma |
Neoplasms |
| C0206693 |
BXGD004244 |
Medullary carcinoma |
Neoplasms |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239399 |
BXGD004981 |
Short extremities |
|
| C0240912 |
BXGD005062 |
Vertical Talus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265218 |
BXGD005467 |
Neu-Laxova syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266463 |
BXGD005675 |
Lissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266574 |
BXGD005697 |
Ablepharon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266786 |
BXGD005713 |
Short cord |
|
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270820 |
BXGD006111 |
Gelastic Epilepsy |
Nervous System Diseases |
| C0270846 |
BXGD006116 |
Epileptic drop attack |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0271650 |
BXGD006227 |
Impaired glucose tolerance |
Nutritional and Metabolic Diseases |
| C0276289 |
BXGD006418 |
Zika Virus Infection |
Infections |
| C0278764 |
BXGD006581 |
Adult Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0278879 |
BXGD006610 |
Childhood Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279672 |
BXGD006678 |
Cervical Adenocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0337438 |
BXGD007159 |
Glucose measurement |
|
| C0338597 |
BXGD007207 |
Choroid plexus cyst |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0339526 |
BXGD007259 |
Autosomal recessive retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0340164 |
BXGD007305 |
Lofgrens syndrome |
Hemic and Lymphatic Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0398791 |
BXGD008233 |
Nijmegen Breakage Syndrome |
Nutritional and Metabolic Diseases |
| C0409974 |
BXGD008401 |
Lupus Erythematosus |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases |
| C0409979 |
BXGD008402 |
Neonatal Systemic lupus erythematosus |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426870 |
BXGD008592 |
Large hand |
|
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0431350 |
BXGD008668 |
Primary microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0431371 |
BXGD008676 |
Absence of septum pellucidum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0495706 |
BXGD009038 |
elevated blood glucose level |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0523677 |
BXGD009215 |
Glycine measurement |
|
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0543888 |
BXGD009300 |
Epileptic encephalopathy |
Nervous System Diseases |
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0553580 |
BXGD009399 |
Ewings sarcoma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566694 |
BXGD009492 |
Small placenta |
|
| C0578870 |
BXGD009553 |
Chronic idiopathic urticaria |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0580190 |
BXGD009557 |
3-Phosphoglycerate dehydrogenase deficiency |
|
| C0595939 |
BXGD009629 |
Stillbirth |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598935 |
BXGD009674 |
Tumor Initiation |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0796195 |
BXGD010811 |
Waisman syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0860609 |
BXGD011237 |
Inappropriate crying |
|
| C0917799 |
BXGD011410 |
Hypersomnia |
Nervous System Diseases; Mental Disorders |
| C1257931 |
BXGD011815 |
Mammary Neoplasms, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1301034 |
BXGD012282 |
Pancreatic intraepithelial neoplasia |
Neoplasms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1332201 |
BXGD012502 |
Adult Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1445957 |
BXGD013081 |
Serum total cholesterol measurement |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1527366 |
BXGD013280 |
Salaam Seizures |
Nervous System Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1609433 |
BXGD013438 |
Congenital absence of kidneys syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1800706 |
BXGD013755 |
Idiopathic Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C1836189 |
BXGD014091 |
Radial deviation of finger |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1843005 |
BXGD014548 |
Absent eyelashes |
|
| C1848980 |
BXGD014993 |
Developmental stagnation |
|
| C1850327 |
BXGD015129 |
Bifid uterus |
|
| C1850533 |
BXGD015148 |
Yellow subcutaneous tissue covered by thin, scaly skin |
|
| C1850534 |
BXGD015149 |
Edema, generalized |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1853737 |
BXGD015356 |
Prominent occiput |
|
| C1854885 |
BXGD015440 |
Cerebral dysmyelination |
|
| C1854919 |
BXGD015442 |
Severe psychomotor retardation |
|
| C1855330 |
BXGD015487 |
Cerebral hypoplasia |
|
| C1855333 |
BXGD015489 |
External genital hypoplasia |
|
| C1856019 |
BXGD015564 |
Abnormal cortical gyration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1857045 |
BXGD015670 |
Abnormality of the philtrum |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1860450 |
BXGD015984 |
Calcaneovalgus deformity |
|
| C1866174 |
BXGD016381 |
Phosphoglycerate Dehydrogenase Deficiency |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C1866241 |
BXGD016389 |
Broad foot |
Musculoskeletal Diseases |
| C1883008 |
BXGD016593 |
Serum Alanine Aminotransferase Measurement |
|
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1970253 |
BXGD016825 |
Phosphoserine Aminotransferase Deficiency |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C2062441 |
BXGD016897 |
Influenza A |
|
| C2237142 |
BXGD016960 |
Moderate global developmental delay |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2363741 |
BXGD017100 |
HIV-1 infection |
|
| C2675111 |
BXGD017272 |
Abnormal eyelash morphology |
|
| C2677180 |
BXGD017366 |
Congenital microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2677328 |
BXGD017371 |
Cerebral hypomyelination |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2745900 |
BXGD017568 |
Promyelocytic leukemia |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2945759 |
BXGD018189 |
aggressive cancer |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3469521 |
BXGD018910 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3552528 |
BXGD019157 |
Generalized ichthyosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C3554617 |
BXGD019228 |
Adducted thumb |
Musculoskeletal Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3853041 |
BXGD019819 |
Severe Congenital Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C3887650 |
BXGD019911 |
Adult Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C4015019 |
BXGD020178 |
NEU-LAXOVA SYNDROME 2 |
|
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021998 |
BXGD020862 |
Lack of skin elasticity |
|
| C4022735 |
BXGD020971 |
Cerebral white matter atrophy |
Pathological Conditions, Signs and Symptoms |
| C4022971 |
BXGD021048 |
Hyposerinemia |
|
| C4022973 |
BXGD021049 |
Hypoglycinemia |
|
| C4023722 |
BXGD021253 |
Abnormality of hair texture |
|
| C4025773 |
BXGD021784 |
Aplasia/Hypoplasia involving the skeletal musculature |
|
| C4025835 |
BXGD021819 |
Abnormal nasolacrimal system morphology |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4049919 |
BXGD021955 |
Insulin Sensitivity Measurement |
|
| C4086152 |
BXGD022123 |
Childhood Astrocytoma |
Neoplasms |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4529962 |
BXGD023178 |
Fatty Liver Disease |
|
| C4551478 |
BXGD023308 |
NEU-LAXOVA SYNDROME 1 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4551838 |
BXGD023417 |
Talipes transversoplanus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4554651 |
BXGD023568 |
Generalized Edema, CTCAE |
|
| C4704874 |
BXGD023682 |
Mammary Carcinoma, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |