| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002312 |
BXGD000107 |
alpha-Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007114 |
BXGD000431 |
Malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007398 |
BXGD000465 |
Catatonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013528 |
BXGD000851 |
Echolalia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015544 |
BXGD001003 |
Failure to Thrive |
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 |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019270 |
BXGD001311 |
Hernia |
Pathological Conditions, Signs and Symptoms |
| C0020678 |
BXGD001463 |
Hypotrichosis |
Skin and Connective Tissue Diseases |
| C0022602 |
BXGD001564 |
Actinic keratosis |
Neoplasms; Skin and Connective Tissue Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025568 |
BXGD001877 |
Metaplasia |
Pathological Conditions, Signs and Symptoms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026499 |
BXGD001905 |
Monosomy |
Pathological Conditions, Signs and Symptoms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026884 |
BXGD001945 |
Mutism |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027830 |
BXGD002046 |
neurofibroma |
Neoplasms; Nervous System Diseases |
| C0027831 |
BXGD002047 |
Neurofibromatosis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0028945 |
BXGD002099 |
oligodendroglioma |
Neoplasms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0035934 |
BXGD002572 |
Rubinstein-Taybi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| 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 |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0039101 |
BXGD002790 |
synovial sarcoma |
Neoplasms |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0149925 |
BXGD003387 |
Small cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0150080 |
BXGD003402 |
Social Communication Disorder |
Mental Disorders |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0162678 |
BXGD003974 |
Neurofibromatoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System 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 |
| C0205698 |
BXGD004109 |
Undifferentiated carcinoma |
Neoplasms |
| C0206623 |
BXGD004189 |
Adenosquamous carcinoma |
Neoplasms |
| C0206704 |
BXGD004254 |
Carcinoma, Large Cell |
Neoplasms |
| C0206743 |
BXGD004285 |
Rhabdoid Tumor |
Neoplasms |
| C0220650 |
BXGD004310 |
Metastatic malignant neoplasm to brain |
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0262584 |
BXGD005256 |
Carcinoma, Small Cell |
Neoplasms |
| C0265338 |
BXGD005522 |
Coffin-Siris syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms |
| C0265354 |
BXGD005529 |
CHARGE Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0265372 |
BXGD005532 |
Fetal hydantoin syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0278660 |
BXGD006555 |
Adult Synovial Sarcoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0278996 |
BXGD006621 |
Malignant Head and Neck Neoplasm |
Neoplasms |
| C0279070 |
BXGD006625 |
Adult Oligodendroglioma |
Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279628 |
BXGD006659 |
Adenocarcinoma Of Esophagus |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0279982 |
BXGD006702 |
Childhood Synovial Sarcoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0280475 |
BXGD006749 |
Childhood Oligodendroglioma |
Neoplasms |
| C0282160 |
BXGD006797 |
Aplasia Cutis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0333307 |
BXGD006946 |
Superficial ulcer |
Pathological Conditions, Signs and Symptoms |
| C0345967 |
BXGD007756 |
Malignant mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0375023 |
BXGD007970 |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0393702 |
BXGD008124 |
Myoclonic Astatic Epilepsy |
Nervous System Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0427460 |
BXGD008616 |
Red cell distribution width determination |
|
| C0431448 |
BXGD008691 |
Absent eyebrow |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0545053 |
BXGD009323 |
Advanced bone age |
|
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0578038 |
BXGD009542 |
Thin lips |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0729582 |
BXGD009931 |
Floating-harbor syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0751396 |
BXGD010425 |
Well Differentiated Oligodendroglioma |
Neoplasms |
| C0812413 |
BXGD010847 |
Malignant Pleural Mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0877024 |
BXGD011330 |
Schimke immunoosseous dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases |
| C0877165 |
BXGD011338 |
Short phalanx of finger |
|
| C0973461 |
BXGD011595 |
Dysphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1303073 |
BXGD012322 |
Nicolaides Baraitser syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1304746 |
BXGD012343 |
RDW - Red blood cell distribution width result |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1456873 |
BXGD013129 |
alpha^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1527366 |
BXGD013280 |
Salaam Seizures |
Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1837084 |
BXGD014195 |
Short metacarpal |
|
| C1837404 |
BXGD014229 |
High, narrow palate |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1843108 |
BXGD014556 |
Short palm |
|
| C1844809 |
BXGD014677 |
Thick nasal alae |
|
| C1844813 |
BXGD014679 |
Widely spaced teeth |
|
| C1845055 |
BXGD014705 |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1849020 |
BXGD014996 |
Short metatarsal |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849667 |
BXGD015073 |
Wide nasal base |
|
| C1850630 |
BXGD015162 |
Broad distal phalanx of finger |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854111 |
BXGD015381 |
Broad philtrum |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1857042 |
BXGD015669 |
Sparse scalp hair |
|
| C1859115 |
BXGD015853 |
Prominent interphalangeal joints |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C2062441 |
BXGD016897 |
Influenza A |
|
| C2169806 |
BXGD016935 |
recurrent muscle twitches (symptom) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2237142 |
BXGD016960 |
Moderate global developmental delay |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2243051 |
BXGD017008 |
Large head (disorder) |
|
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2673670 |
BXGD017220 |
Curly eyelashes |
|
| C2675021 |
BXGD017264 |
Narrow palpebral fissure |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3281201 |
BXGD018889 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887461 |
BXGD019876 |
Head and Neck Carcinoma |
Neoplasms |
| C3887485 |
BXGD019877 |
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 |
|
| C3887489 |
BXGD019879 |
Clubbing of toes |
|
| C3887524 |
BXGD019892 |
Skin Erosion |
Skin and Connective Tissue Diseases |
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021785 |
BXGD020778 |
Abnormality of the metacarpal bones |
Musculoskeletal Diseases |
| C4023721 |
BXGD021252 |
Abnormal hair pattern |
|
| C4024890 |
BXGD021458 |
Excessive wrinkled skin |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4086152 |
BXGD022123 |
Childhood Astrocytoma |
Neoplasms |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4511452 |
BXGD023002 |
Sporadic Parkinson disease |
Nervous System Diseases |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551564 |
BXGD023352 |
Narrow nasal bridge |
|