| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0005612 |
BXGD000317 |
Birth Weight |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0005779 |
BXGD000336 |
Blood Coagulation Disorders |
Hemic and Lymphatic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007138 |
BXGD000446 |
Carcinoma, Transitional Cell |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0008733 |
BXGD000569 |
Chylothorax |
Respiratory Tract Diseases |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009952 |
BXGD000639 |
Febrile Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| 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 |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024236 |
BXGD001752 |
Lymphedema |
Hemic and Lymphatic Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024305 |
BXGD001763 |
Lymphoma, Non-Hodgkin |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027962 |
BXGD002064 |
Melanocytic nevus |
Neoplasms |
| 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 |
| C0031039 |
BXGD002274 |
Pericardial effusion |
Cardiovascular Diseases |
| C0032227 |
BXGD002336 |
Pleural effusion disorder |
Respiratory Tract Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0032897 |
BXGD002378 |
Prader-Willi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035920 |
BXGD002570 |
Rubella |
Infections |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0079745 |
BXGD003091 |
Lymphoma, Large-Cell, Follicular |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085183 |
BXGD003139 |
Neoplasms, Second Primary |
Neoplasms |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151779 |
BXGD003473 |
Cutaneous Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175691 |
BXGD003999 |
Dubowitz 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 |
| C0175693 |
BXGD004001 |
Russell-Silver syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175701 |
BXGD004007 |
Aarskog syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| 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 |
| C0206620 |
BXGD004187 |
Lymphangioma, Cystic |
Neoplasms |
| C0220630 |
BXGD004302 |
Adult Liver Carcinoma |
Digestive System Diseases; Neoplasms |
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0238397 |
BXGD004923 |
Pulmonary artery stenosis |
Cardiovascular Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239340 |
BXGD004979 |
Edema of lower extremity |
Pathological Conditions, Signs and Symptoms |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240278 |
BXGD005027 |
Lymphatic obstruction |
Hemic and Lymphatic Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0243066 |
BXGD005213 |
Atresia |
|
| C0265202 |
BXGD005461 |
Seckel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0265205 |
BXGD005462 |
Robinow Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C0270972 |
BXGD006147 |
Cornelia De Lange Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0277959 |
BXGD006487 |
Coarse hair |
|
| C0279000 |
BXGD006622 |
Liver and Intrahepatic Biliary Tract Carcinoma |
Digestive System Diseases; Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0347915 |
BXGD007862 |
Congenital malformation syndromes associated with short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349639 |
BXGD007943 |
Juvenile Myelomonocytic Leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0398368 |
BXGD008188 |
Lymphatic Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423798 |
BXGD008510 |
Increased tendency to bruise |
Wounds and Injuries |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432333 |
BXGD008778 |
Abnormal dermatoglyphic pattern |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0558165 |
BXGD009449 |
Curly hair (finding) |
|
| C0587248 |
BXGD009617 |
Costello syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0855740 |
BXGD011086 |
Abnormal platelet function |
|
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| 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 |
| C1285291 |
BXGD012170 |
Fetal ascites |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C1397307 |
BXGD012996 |
Cardiac fibrosis |
|
| C1456781 |
BXGD013123 |
Benign melanocytic nevus |
Neoplasms |
| C1458140 |
BXGD013134 |
Bleeding tendency |
Hemic and Lymphatic Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836940 |
BXGD014182 |
Thickened nuchal skin fold |
|
| C1837732 |
BXGD014261 |
Thickened helices |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1843181 |
BXGD014564 |
Noonan syndrome-like disorder with loose anagen hair |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1844806 |
BXGD014676 |
Weight less than 3rd percentile |
|
| C1846821 |
BXGD014841 |
Abnormality of coagulation |
|
| C1849075 |
BXGD015002 |
Relative macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1855728 |
BXGD015536 |
Low posterior hairline |
|
| C1856714 |
BXGD015634 |
Palmoplantar cutis laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1860493 |
BXGD015987 |
Abnormality of the sternum |
|
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1961102 |
BXGD016673 |
Precursor 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 |
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3164374 |
BXGD018527 |
Abnormality of pulmonary valve |
|
| C3164445 |
BXGD018529 |
Abnormality of aortic valve |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| 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 |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3665593 |
BXGD019294 |
Melanocytic nevus of skin |
Neoplasms |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3809233 |
BXGD019577 |
NOONAN SYNDROME 8 |
|
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4020962 |
BXGD020512 |
Enlarged thorax |
|
| C4021797 |
BXGD020787 |
Abnormality of the thorax |
|
| C4023385 |
BXGD021170 |
Aplasia of the semicircular canal |
|
| C4023397 |
BXGD021175 |
Abnormal hair quantity |
|
| C4023676 |
BXGD021237 |
Increased nuchal translucency |
Pathological Conditions, Signs and Symptoms |
| C4023909 |
BXGD021272 |
Aplasia/Hypoplasia of the abdominal wall musculature |
|
| C4025749 |
BXGD021773 |
Abnormality of the spleen |
|
| C4025753 |
BXGD021777 |
Abnormal tricuspid valve morphology |
|
| C4025759 |
BXGD021780 |
Abnormal mitral valve morphology |
|
| C4025843 |
BXGD021823 |
Abnormality of refraction |
|
| C4073145 |
BXGD022048 |
Hyperkeratosis pilaris |
|
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551602 |
BXGD023369 |
Noonan Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721532 |
BXGD023752 |
Lymphoma, Non-Hodgkin, Familial |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |