| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0011226 |
BXGD000704 |
Hepatitis D Infection |
Digestive System Diseases; Infections |
| C0012236 |
BXGD000772 |
DiGeorge Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013390 |
BXGD000828 |
Dysmenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0013394 |
BXGD000830 |
Dyspareunia (female) |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0019069 |
BXGD001277 |
Hemophilia A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0019158 |
BXGD001293 |
Hepatitis |
Digestive System Diseases |
| C0019159 |
BXGD001294 |
Hepatitis A |
Digestive System Diseases; Infections |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0021125 |
BXGD001483 |
Impulsive Behavior |
Behavior and Behavior Mechanisms |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
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 |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0030794 |
BXGD002254 |
Pelvic Pain |
Pathological Conditions, Signs and Symptoms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0039585 |
BXGD002821 |
Androgen-Insensitivity Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System 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 |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0151517 |
BXGD003431 |
Complete atrioventricular block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0162309 |
BXGD003934 |
Adrenoleukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0206180 |
BXGD004170 |
Ki-1+ Anaplastic Large Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0206698 |
BXGD004248 |
Cholangiocarcinoma |
Neoplasms |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220668 |
BXGD004317 |
Congenital contractural arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220704 |
BXGD004327 |
Shprintzen syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0221166 |
BXGD004397 |
Paraparesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0231686 |
BXGD004508 |
Gait, Unsteady |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| 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 |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0278619 |
BXGD006550 |
Extramedullary Plasmacytoma |
Neoplasms; Immune System Diseases |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0334121 |
BXGD006996 |
Inflammatory Myofibroblastic Tumor |
Pathological Conditions, Signs and Symptoms |
| C0342208 |
BXGD007445 |
Multinodular goiter |
Neoplasms; Endocrine System Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0524909 |
BXGD009247 |
Hepatitis B, Chronic |
Digestive System Diseases; Infections |
| C0524910 |
BXGD009248 |
Hepatitis C, Chronic |
Digestive System Diseases; Infections |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684275 |
BXGD009792 |
Hemophilia, NOS |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0740394 |
BXGD009989 |
Hyperuricemia |
Pathological Conditions, Signs and Symptoms |
| C0746102 |
BXGD010136 |
Chronic lung disease |
Respiratory Tract Diseases |
| C0850758 |
BXGD010909 |
Pelvic pain female |
Pathological Conditions, Signs and Symptoms |
| C0949056 |
BXGD011567 |
Infection caused by Coxiella |
Infections |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1301363 |
BXGD012292 |
Blastic plasmacytoid dendritic cell neoplasm |
Neoplasms; Skin and Connective Tissue Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1333177 |
BXGD012605 |
Lymphoproliferative Disorder of the Skin |
Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1378703 |
BXGD012933 |
Renal carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1608408 |
BXGD013434 |
Malignant transformation |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1838391 |
BXGD014313 |
Limb hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1842581 |
BXGD014525 |
Abnormal corpus callosum morphology |
Pathological Conditions, Signs and Symptoms |
| C1847514 |
BXGD014868 |
Postnatal microcephaly |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1857704 |
BXGD015741 |
Abnormal myelination |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1861453 |
BXGD016049 |
Pseudohyperkalemia Cardiff |
Nutritional and Metabolic Diseases |
| C1863512 |
BXGD016181 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE |
Nutritional and Metabolic Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| 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 |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4023687 |
BXGD021243 |
EEG with multifocal slow activity |
|
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4049392 |
BXGD021929 |
Chronic hepatitis C genotype 1 |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4518356 |
BXGD023020 |
MiT family translocation renal cell carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4529962 |
BXGD023178 |
Fatty Liver Disease |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4693389 |
BXGD023597 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
|