| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| 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 |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010823 |
BXGD000690 |
Cytomegalovirus Infections |
Infections |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014057 |
BXGD000880 |
Japanese Encephalitis |
Infections; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0019104 |
BXGD001285 |
Hemorrhagic Fevers, Viral |
Infections |
| 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 |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0021364 |
BXGD001500 |
Male infertility |
Male Urogenital Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0021400 |
BXGD001504 |
Influenza |
Infections; Respiratory Tract Diseases |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract 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 |
| 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 |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0040997 |
BXGD002894 |
Trigeminal Neuralgia |
Nervous System Diseases; Stomatognathic Diseases |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0043124 |
BXGD003031 |
West Nile Fever |
Infections; Nervous System Diseases |
| C0079772 |
BXGD003099 |
T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085215 |
BXGD003141 |
Ovarian Failure, Premature |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0086237 |
BXGD003273 |
Epilepsy, Cryptogenic |
Nervous System Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086743 |
BXGD003308 |
Osteoarthrosis Deformans |
Musculoskeletal Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205671 |
BXGD004104 |
Infections, Arenavirus |
Infections |
| C0206608 |
BXGD004184 |
Flavivirus Infections |
Infections |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0221505 |
BXGD004466 |
Lesion of brain |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0236018 |
BXGD004804 |
Aura |
Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0270790 |
BXGD006105 |
Quadriparesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0276289 |
BXGD006418 |
Zika Virus Infection |
Infections |
| C0278488 |
BXGD006515 |
Carcinoma breast stage IV |
|
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278764 |
BXGD006581 |
Adult Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278879 |
BXGD006610 |
Childhood Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0281784 |
BXGD006785 |
Benign Meningioma |
Neoplasms; Nervous System Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338451 |
BXGD007176 |
Frontotemporal dementia |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders |
| C0339573 |
BXGD007271 |
Glaucoma, Primary Open Angle |
Eye 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 |
| C0345967 |
BXGD007756 |
Malignant mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0346957 |
BXGD007836 |
Disseminated Malignant Neoplasm |
Neoplasms |
| C0348426 |
BXGD007871 |
Benign neoplasm of meninges |
Neoplasms; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0398738 |
BXGD008222 |
Leukocyte adhesion deficiency type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases |
| C0401149 |
BXGD008273 |
Chronic constipation |
Pathological Conditions, Signs and Symptoms |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0542519 |
BXGD009279 |
Congenital absence of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0553580 |
BXGD009399 |
Ewings sarcoma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
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 |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0694549 |
BXGD009851 |
Community acquired pneumonia |
Infections; Respiratory Tract Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0730328 |
BXGD009959 |
Central Serous Chorioretinopathy |
Eye Diseases |
| C0751111 |
BXGD010319 |
Awakening Epilepsy |
Nervous System Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0796184 |
BXGD010810 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C0871976 |
BXGD011318 |
facial features |
|
| C1096184 |
BXGD011607 |
West Nile viral infection |
Infections; Nervous System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1266086 |
BXGD011952 |
Polymorphous low grade adenocarcinoma |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| 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 |
|
| C1836806 |
BXGD014162 |
Mild microcephaly |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1837463 |
BXGD014235 |
Narrow face |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1855179 |
BXGD015468 |
CATARACT, ANTERIOR POLAR |
Eye Diseases |
| C1857482 |
BXGD015706 |
Slender finger |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C1955906 |
BXGD016613 |
Lymphoma, Extranodal NK-T-Cell |
Neoplasms |
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2363741 |
BXGD017100 |
HIV-1 infection |
|
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| 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 |
| C4021076 |
BXGD020542 |
Iron accumulation in brain |
|
| C4021813 |
BXGD020799 |
Oral cleft |
|
| C4024896 |
BXGD021461 |
Motor neuron atrophy |
|
| C4085582 |
BXGD022118 |
MENTAL RETARDATION, X-LINKED 102 |
|
| C4289792 |
BXGD022497 |
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form |
Infections |
| C4293686 |
BXGD022512 |
Periventricular white matter hyperdensities |
|
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|