| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0003130 |
BXGD000183 |
Anoxia |
Pathological Conditions, Signs and Symptoms |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System 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 |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine 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 |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018920 |
BXGD001246 |
Hemangioma, Cavernous |
Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0019618 |
BXGD001339 |
Histiocytosis |
Hemic and Lymphatic Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0021841 |
BXGD001519 |
Intestinal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023452 |
BXGD001651 |
Childhood Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024236 |
BXGD001752 |
Lymphedema |
Hemic and Lymphatic Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027796 |
BXGD002037 |
Neuralgia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027809 |
BXGD002040 |
Neurilemmoma |
Neoplasms |
| C0027832 |
BXGD002048 |
Neurofibromatosis 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0028326 |
BXGD002075 |
Noonan Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0041409 |
BXGD002924 |
Turner Syndrome, Male |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151529 |
BXGD003433 |
Prolonged bleeding time |
|
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151779 |
BXGD003473 |
Cutaneous Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0158465 |
BXGD003887 |
Acquired cubitus valgus |
|
| C0175704 |
BXGD004010 |
LEOPARD Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206698 |
BXGD004248 |
Cholangiocarcinoma |
Neoplasms |
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0231274 |
BXGD004490 |
Intolerant of heat |
|
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241074 |
BXGD005078 |
Hyperextensible skin |
|
| C0241654 |
BXGD005104 |
Abnormal heart valve morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0263490 |
BXGD005314 |
Brittle hair |
|
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0272138 |
BXGD006308 |
Erythroblastosis |
|
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278701 |
BXGD006566 |
Gastric Adenocarcinoma |
Digestive System Diseases; Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278883 |
BXGD006614 |
Metastatic melanoma |
Neoplasms |
| C0281361 |
BXGD006774 |
Adenocarcinoma of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0334586 |
BXGD007126 |
Pleomorphic Xanthoastrocytoma |
Neoplasms |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0431448 |
BXGD008691 |
Absent eyebrow |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0553586 |
BXGD009401 |
Cafe-au-lait macules with pulmonary stenosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0587248 |
BXGD009617 |
Costello syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0685938 |
BXGD009829 |
Malignant neoplasm of gastrointestinal tract |
Digestive System Diseases; Neoplasms |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0751606 |
BXGD010523 |
Adult Acute Lymphocytic Leukemia |
|
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1096666 |
BXGD011638 |
Thyroid cancer metastatic |
Neoplasms; Endocrine System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1275081 |
BXGD012056 |
Cardio-facio-cutaneous syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1328931 |
BXGD012477 |
Multiple lentigines |
|
| C1527404 |
BXGD013289 |
Female Pseudo-Turner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1832348 |
BXGD013831 |
Slow-growing hair |
|
| C1833340 |
BXGD013918 |
Synostotic Posterior Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1836047 |
BXGD014074 |
Long face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837732 |
BXGD014261 |
Thickened helices |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843181 |
BXGD014564 |
Noonan syndrome-like disorder with loose anagen hair |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1849340 |
BXGD015039 |
Long palpebral fissure |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1855728 |
BXGD015536 |
Low posterior hairline |
|
| C1856660 |
BXGD015629 |
Abnormality of the helix |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857539 |
BXGD015716 |
Deep palmar crease |
|
| C1860493 |
BXGD015987 |
Abnormality of the sternum |
|
| C1861869 |
BXGD016088 |
Underdeveloped supraorbital ridges |
|
| C1861975 |
BXGD016095 |
Cafe au lait spots, multiple |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1866231 |
BXGD016388 |
Full cheeks |
|
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2930995 |
BXGD017931 |
Dyschromatosis universalis hereditaria |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C2931482 |
BXGD018028 |
Neurofibromatosis-Noonan syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C3164445 |
BXGD018529 |
Abnormality of aortic valve |
|
| C3501846 |
BXGD019029 |
Noonan-Like Syndrome With Loose Anagen Hair |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C3551426 |
BXGD019146 |
Dystrophic fingernails |
|
| C3551431 |
BXGD019147 |
Sparse or absent eyelashes |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3809007 |
BXGD019569 |
CARDIOFACIOCUTANEOUS SYNDROME 4 |
|
| C3899645 |
BXGD020087 |
Childhood Pleomorphic Xanthoastrocytoma |
|
| C4021242 |
BXGD020592 |
Hypoplasia of the zygomatic bone |
|
| C4021264 |
BXGD020604 |
Abnormal ventricular septum morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4021527 |
BXGD020654 |
Abdominal wall muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C4021797 |
BXGD020787 |
Abnormality of the thorax |
|
| C4021956 |
BXGD020839 |
Aplasia/Hypoplasia of the eyebrow |
|
| C4021976 |
BXGD020852 |
Abnormality of the lymphatic system |
|
| C4022662 |
BXGD020948 |
Abnormality of lateral ventricle |
|
| C4022755 |
BXGD020984 |
Functional abnormality of the gastrointestinal tract |
|
| C4024878 |
BXGD021453 |
Generalized hyperpigmentation |
Skin and Connective Tissue Diseases |
| C4024890 |
BXGD021458 |
Excessive wrinkled skin |
|
| C4025662 |
BXGD021716 |
Abnormality of the ulna |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551602 |
BXGD023369 |
Noonan Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C4551675 |
BXGD023384 |
Keratoderma, Palmoplantar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|