| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003123 |
BXGD000178 |
Anorexia |
Pathological Conditions, Signs and Symptoms |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0003962 |
BXGD000244 |
Ascites |
Pathological Conditions, Signs and Symptoms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005940 |
BXGD000352 |
Bone Diseases |
Musculoskeletal Diseases |
| C0006111 |
BXGD000369 |
Brain Diseases |
Nervous System Diseases |
| C0006413 |
BXGD000397 |
Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007766 |
BXGD000478 |
Intracranial Aneurysm |
Nervous System Diseases; Cardiovascular Diseases |
| C0007959 |
BXGD000507 |
Charcot-Marie-Tooth Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0009241 |
BXGD000595 |
Cognition Disorders |
Mental Disorders |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010200 |
BXGD000653 |
Coughing |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011253 |
BXGD000706 |
Delusions |
Behavior and Behavior Mechanisms |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0012236 |
BXGD000772 |
DiGeorge Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0012569 |
BXGD000777 |
Diplopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013404 |
BXGD000833 |
Dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013592 |
BXGD000857 |
Ectropion |
Eye Diseases |
| C0014175 |
BXGD000904 |
Endometriosis |
Female Urogenital Diseases and Pregnancy Complications |
| C0014378 |
BXGD000912 |
Enterovirus Infections |
Infections |
| C0014550 |
BXGD000930 |
Myoclonic Epilepsy |
Nervous System Diseases |
| C0014591 |
BXGD000938 |
Epistaxis |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016663 |
BXGD001071 |
Pathological fracture |
Wounds and Injuries |
| C0017205 |
BXGD001105 |
Gaucher Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0017565 |
BXGD001118 |
Gingival Hemorrhage |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases |
| C0017639 |
BXGD001133 |
Gliosis |
Pathological Conditions, Signs and Symptoms |
| C0018790 |
BXGD001221 |
Cardiac Arrest |
Cardiovascular Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018965 |
BXGD001258 |
Hematuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019214 |
BXGD001307 |
Hepatosplenomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020305 |
BXGD001374 |
Hydrops Fetalis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020532 |
BXGD001420 |
Hypersplenism |
Hemic and Lymphatic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020542 |
BXGD001425 |
Pulmonary Hypertension |
Respiratory Tract Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0020758 |
BXGD001467 |
Congenital ichthyosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0021125 |
BXGD001483 |
Impulsive Behavior |
Behavior and Behavior Mechanisms |
| C0021364 |
BXGD001500 |
Male infertility |
Male Urogenital Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023530 |
BXGD001683 |
Leukopenia |
Hemic and Lymphatic Diseases |
| C0023794 |
BXGD001700 |
Lipoidosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024301 |
BXGD001759 |
Lymphoma, Follicular |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024305 |
BXGD001763 |
Lymphoma, Non-Hodgkin |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| 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 |
| C0026034 |
BXGD001887 |
Microstomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0026269 |
BXGD001897 |
Mitral Valve Stenosis |
Cardiovascular Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026837 |
BXGD001937 |
Muscle Rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027543 |
BXGD001997 |
Avascular necrosis of bone |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028064 |
BXGD002068 |
Niemann-Pick Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029464 |
BXGD002161 |
Osteosclerosis |
Musculoskeletal Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031039 |
BXGD002274 |
Pericardial effusion |
Cardiovascular Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037268 |
BXGD002675 |
Skin Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0037274 |
BXGD002676 |
Dermatologic disorders |
Skin and Connective Tissue Diseases |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037771 |
BXGD002702 |
Paraparesis, Spastic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038868 |
BXGD002781 |
Progressive supranuclear palsy |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0039373 |
BXGD002809 |
Tay-Sachs Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041105 |
BXGD002895 |
Trismus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042025 |
BXGD002950 |
Urinary Stress Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0079154 |
BXGD003065 |
Congenital Nonbullous Ichthyosiform Erythroderma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0079583 |
BXGD003082 |
Ichthyosiform Erythroderma, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085078 |
BXGD003118 |
Lysosomal Storage Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0085606 |
BXGD003201 |
Urgency of micturition |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0085623 |
BXGD003210 |
Akinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085631 |
BXGD003214 |
Agitation |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0085632 |
BXGD003215 |
Apathy |
Behavior and Behavior Mechanisms |
| C0085660 |
BXGD003228 |
Aseptic necrosis |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0086132 |
BXGD003264 |
Depressive Symptoms |
Behavior and Behavior Mechanisms |
| C0086439 |
BXGD003284 |
Hypokinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151564 |
BXGD003440 |
Cogwheel Rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151669 |
BXGD003457 |
Increased antibody level in blood |
|
| C0151699 |
BXGD003461 |
Intracranial Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0151818 |
BXGD003480 |
Opisthotonus |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151825 |
BXGD003481 |
Bone pain |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152244 |
BXGD003571 |
Bone Cysts, Aneurysmal |
Neoplasms; Musculoskeletal Diseases |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0162834 |
BXGD003988 |
Hyperpigmentation |
Skin and Connective Tissue Diseases |
| C0206062 |
BXGD004148 |
Lung Diseases, Interstitial |
Respiratory Tract Diseases |
| C0206307 |
BXGD004175 |
Canavan Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0220605 |
BXGD004294 |
Adult Non-Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0220612 |
BXGD004296 |
Childhood Non-Hodgkin Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0220756 |
BXGD004338 |
Niemann-Pick Disease, Type C |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0231688 |
BXGD004510 |
Gait, Shuffling |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0233565 |
BXGD004590 |
Bradykinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0233763 |
BXGD004611 |
Hallucinations, Visual |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0234379 |
BXGD004662 |
Resting Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240341 |
BXGD005032 |
Micrographia |
|
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0240735 |
BXGD005052 |
Personality Change |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0241144 |
BXGD005080 |
Petechiae of skin |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases |
| C0241700 |
BXGD005108 |
Voice Fatigue |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0242422 |
BXGD005163 |
Parkinsonian Disorders |
Nervous System Diseases |
| C0242423 |
BXGD005164 |
Ramsay Hunt Paralysis Syndrome |
Nervous System Diseases |
| C0262431 |
BXGD005242 |
Compression fracture of vertebral column |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries |
| C0265962 |
BXGD005590 |
Ichthyosis linearis circumflexa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0268250 |
BXGD005868 |
Gaucher Disease, Type 2 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0268251 |
BXGD005869 |
Gaucher Disease, Type 3 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270736 |
BXGD006096 |
Essential Tremor |
Nervous System Diseases |
| C0271270 |
BXGD006178 |
Oculovestibuloauditory syndrome |
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0271385 |
BXGD006193 |
Horizontal Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0271650 |
BXGD006227 |
Impaired glucose tolerance |
Nutritional and Metabolic Diseases |
| 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 |
| C0282513 |
BXGD006808 |
Primary Progressive Aphasia (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0340968 |
BXGD007377 |
Deficiency of pyruvate kinase |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0342649 |
BXGD007522 |
Vascular calcification |
Nutritional and Metabolic Diseases |
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0348489 |
BXGD007875 |
Other sphingolipidosis |
Nutritional and Metabolic Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0400979 |
BXGD008268 |
Obstruction of biliary tree |
Digestive System Diseases |
| C0401149 |
BXGD008273 |
Chronic constipation |
Pathological Conditions, Signs and Symptoms |
| C0410916 |
BXGD008452 |
Neonatal Death |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0423421 |
BXGD008484 |
Atrophic macular change |
|
| C0423798 |
BXGD008510 |
Increased tendency to bruise |
Wounds and Injuries |
| C0424230 |
BXGD008522 |
Motor retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0424448 |
BXGD008529 |
Mask-like facies |
Nervous System Diseases |
| C0426980 |
BXGD008599 |
Motor symptoms |
|
| C0428465 |
BXGD008629 |
Serum lipids high (finding) |
|
| C0428791 |
BXGD008635 |
Aortic valve calcification |
Nutritional and Metabolic Diseases; Cardiovascular Diseases |
| C0455988 |
BXGD008860 |
Hydrops Fetalis, Non-Immune |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0548883 |
BXGD009356 |
Low frustration tolerance |
Behavior and Behavior Mechanisms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0574002 |
BXGD009497 |
Edema of foot (finding) |
Pathological Conditions, Signs and Symptoms |
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0595939 |
BXGD009629 |
Stillbirth |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600452 |
BXGD009708 |
Hepatopulmonary Syndrome |
Digestive System Diseases; Respiratory Tract Diseases |
| C0686377 |
BXGD009834 |
CNS metastases |
Neoplasms; Nervous System Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0747651 |
BXGD010175 |
Recurrent aspiration pneumonia |
Infections; Respiratory Tract Diseases |
| C0749379 |
BXGD010214 |
Thoracolumbar scoliosis |
Musculoskeletal Diseases |
| C0751378 |
BXGD010420 |
Neurologic Signs |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751772 |
BXGD010583 |
REM Sleep Behavior Disorder |
Nervous System Diseases; Mental Disorders |
| C0751779 |
BXGD010588 |
Action Myoclonus-Renal Failure Syndrome |
Nervous System Diseases |
| C0751783 |
BXGD010592 |
Lafora Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752097 |
BXGD010659 |
Autosomal Dominant Juvenile Parkinson Disease |
Nervous System Diseases |
| C0752098 |
BXGD010660 |
Autosomal Dominant Parkinsonism |
Nervous System Diseases |
| C0752100 |
BXGD010661 |
Autosomal Recessive Parkinsonism |
Nervous System Diseases |
| C0752101 |
BXGD010662 |
Parkinsonism, Experimental |
Nervous System Diseases |
| C0752104 |
BXGD010663 |
Familial Juvenile Parkinsonism |
Nervous System Diseases |
| C0752105 |
BXGD010664 |
Parkinsonism, Juvenile |
Nervous System Diseases |
| C0752347 |
BXGD010721 |
Lewy Body Disease |
Nervous System Diseases; Mental Disorders |
| C0813217 |
BXGD010854 |
Expressionless face |
Nervous System Diseases |
| C0850703 |
BXGD010905 |
Frequent falls |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0919718 |
BXGD011437 |
Calcification of mitral valve |
|
| C1096184 |
BXGD011607 |
West Nile viral infection |
Infections; Nervous System Diseases |
| C1096249 |
BXGD011612 |
Calcification of the aorta |
|
| C1262477 |
BXGD011882 |
Weight decreased |
Pathological Conditions, Signs and Symptoms |
| C1270972 |
BXGD012006 |
Mild cognitive disorder |
Mental Disorders |
| C1276035 |
BXGD012100 |
Pena-Shokeir syndrome type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1288283 |
BXGD012175 |
Atrophoderma maculatum |
Skin and Connective Tissue Diseases |
| C1290884 |
BXGD012198 |
Inflammatory disorder |
Pathological Conditions, Signs and Symptoms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332201 |
BXGD012502 |
Adult Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1333295 |
BXGD012614 |
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type |
|
| C1333296 |
BXGD012615 |
Activated B-cell type diffuse large B-cell lymphoma |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1390474 |
BXGD012969 |
Increased susceptibility to fractures |
|
| C1408507 |
BXGD013038 |
Supranuclear ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836296 |
BXGD014105 |
Muscle Weakness Lower Limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1836904 |
BXGD014176 |
Spastic/hyperactive bladder |
|
| C1837388 |
BXGD014225 |
Abnormal pattern of respiration |
|
| C1837482 |
BXGD014237 |
Thoracic hypoplasia |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842704 |
BXGD014534 |
GAUCHER DISEASE, PERINATAL LETHAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1842714 |
BXGD014535 |
Desquamation of skin soon after birth |
|
| C1843921 |
BXGD014620 |
Postural instability |
Nervous System Diseases |
| C1846865 |
BXGD014845 |
Substantia nigra gliosis |
Pathological Conditions, Signs and Symptoms |
| C1846868 |
BXGD014846 |
Parkinsonism with favorable response to dopaminergic medication |
Nervous System Diseases |
| C1850496 |
BXGD015147 |
Neuronal loss in central nervous system |
|
| C1851959 |
BXGD015251 |
Fluctuations in consciousness |
|
| C1851972 |
BXGD015253 |
Reticular hyperpigmentation |
|
| C1853237 |
BXGD015319 |
Isolated cases |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854838 |
BXGD015438 |
Progressive neurologic deterioration |
Mental Disorders |
| C1854928 |
BXGD015443 |
Protuberant abdomen |
|
| C1855895 |
BXGD015557 |
Erlenmeyer flask deformity of the femurs |
|
| C1856476 |
BXGD015611 |
Gaucher Disease, Type Iiic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1856477 |
BXGD015612 |
Slowed horizontal saccades |
|
| C1856478 |
BXGD015613 |
Hypometric horizontal saccades |
|
| C1856507 |
BXGD015614 |
Bulbar signs |
|
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1868528 |
BXGD016503 |
Orthostatic hypotension due to autonomic dysfunction |
Nervous System Diseases; Cardiovascular Diseases |
| C1868675 |
BXGD016520 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
Nervous System Diseases |
| C1961835 |
BXGD016676 |
Gaucher Disease, Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1963060 |
BXGD016679 |
Agitation, CTCAE 3.0 |
|
| C1963077 |
BXGD016680 |
Bone Pain, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2364082 |
BXGD017123 |
Sense of smell impaired |
Nervous System Diseases |
| C2676021 |
BXGD017320 |
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO |
|
| C2826321 |
BXGD017789 |
Refractory Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931585 |
BXGD018037 |
Gaucher-like disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3160718 |
BXGD018468 |
PARKINSON DISEASE, LATE-ONSET |
|
| C3163801 |
BXGD018517 |
Abnormality of aortic arch |
|
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3489733 |
BXGD018945 |
Oculomotor apraxia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases |
| C3494358 |
BXGD018961 |
Prodromal Symptoms |
Pathological Conditions, Signs and Symptoms |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3805715 |
BXGD019484 |
Short stepped shuffling gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C3887513 |
BXGD019887 |
Avascular necrosis |
Pathological Conditions, Signs and Symptoms |
| C4011788 |
BXGD020116 |
Behavioral variant of frontotemporal dementia |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders |
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021790 |
BXGD020782 |
Abnormality of the skeletal system |
|
| C4023698 |
BXGD021247 |
Everted upper lip vermilion |
|
| C4024794 |
BXGD021421 |
Horizontal supranuclear gaze palsy |
|
| C4025758 |
BXGD021779 |
Abnormal myocardium morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4275179 |
BXGD022368 |
Young onset Parkinson disease |
Nervous System Diseases |
| C4285807 |
BXGD022455 |
Behavioral and psychological symptoms of dementia |
|
| C4316870 |
BXGD022707 |
Abnormality of the eye |
|
| C4511452 |
BXGD023002 |
Sporadic Parkinson disease |
Nervous System Diseases |
| C4531121 |
BXGD023189 |
Monotonic speech |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4552855 |
BXGD023528 |
Agitation, CTCAE 5.0 |
|
| C4553018 |
BXGD023532 |
Avascular Necrosis, CTCAE |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4553976 |
BXGD023554 |
Urinary Urgency, CTCAE 5 |
|
| C4554063 |
BXGD023559 |
Bone Pain, CTCAE 5.0 |
|
| C4721411 |
BXGD023735 |
Osteolysis |
Musculoskeletal Diseases |
| C4721532 |
BXGD023752 |
Lymphoma, Non-Hodgkin, Familial |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C4732730 |
BXGD023895 |
Blood spots |
|