| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000786 |
BXGD000010 |
Spontaneous abortion |
Female Urogenital Diseases and Pregnancy Complications |
| C0000822 |
BXGD000012 |
Abortion, Tubal |
Female Urogenital Diseases and Pregnancy Complications |
| C0000846 |
BXGD000015 |
Agenesis |
|
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0001787 |
BXGD000076 |
Osteoporosis, Age-Related |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0002452 |
BXGD000116 |
Amelogenesis Imperfecta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0003504 |
BXGD000202 |
Aortic Valve Insufficiency |
Cardiovascular Diseases |
| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular 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 |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006157 |
BXGD000377 |
Breech Presentation |
Female Urogenital Diseases and Pregnancy Complications |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007766 |
BXGD000478 |
Intracranial Aneurysm |
Nervous System Diseases; Cardiovascular Diseases |
| C0008060 |
BXGD000516 |
child abuse behavior |
|
| C0008449 |
BXGD000542 |
Congenital anomaly of cartilage |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0008479 |
BXGD000544 |
Chondrosarcoma |
Neoplasms |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0008767 |
BXGD000570 |
Cicatrization |
Pathological Conditions, Signs and Symptoms |
| C0009326 |
BXGD000598 |
Collagen Diseases |
Skin and Connective Tissue Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009782 |
BXGD000631 |
Connective Tissue Diseases |
Skin and Connective Tissue Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0011436 |
BXGD000726 |
Dentinogenesis Imperfecta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0011644 |
BXGD000744 |
Scleroderma |
Skin and Connective Tissue Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0011989 |
BXGD000765 |
Camurati-Engelmann Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| 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 |
| C0013720 |
BXGD000861 |
Ehlers-Danlos Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0016057 |
BXGD001042 |
Fibrosarcoma |
Neoplasms |
| C0016059 |
BXGD001043 |
Fibrosis |
Pathological Conditions, Signs and Symptoms |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017178 |
BXGD001102 |
Gastrointestinal Diseases |
Digestive System Diseases |
| C0017923 |
BXGD001154 |
Glycogen Storage Disease Type IV |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0018536 |
BXGD001201 |
Hallux Valgus |
Musculoskeletal Diseases |
| C0018799 |
BXGD001224 |
Heart Diseases |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018824 |
BXGD001237 |
Heart valve disease |
Cardiovascular Diseases |
| C0019189 |
BXGD001298 |
Hepatitis, Chronic |
Digestive System Diseases |
| C0019288 |
BXGD001313 |
Hernia, Femoral |
Pathological Conditions, Signs and Symptoms |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020497 |
BXGD001406 |
Cortical Congenital Hyperostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023234 |
BXGD001622 |
Legg-Calve-Perthes Disease |
Musculoskeletal Diseases |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0023931 |
BXGD001722 |
Lobstein Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0024636 |
BXGD001793 |
Malocclusion |
Stomatognathic Diseases |
| C0024796 |
BXGD001806 |
Marfan Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025286 |
BXGD001850 |
Meningioma |
Neoplasms; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026266 |
BXGD001895 |
Mitral Valve Insufficiency |
Cardiovascular Diseases |
| C0026267 |
BXGD001896 |
Mitral Valve Prolapse Syndrome |
Cardiovascular Diseases |
| C0026618 |
BXGD001909 |
Dental Fluorosis, Acquired |
Stomatognathic Diseases |
| C0026825 |
BXGD001934 |
Flaccid Muscle Tone |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026846 |
BXGD001939 |
Muscular Atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026884 |
BXGD001945 |
Mutism |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029118 |
BXGD002111 |
Opportunistic Infections |
Infections |
| C0029172 |
BXGD002120 |
Oral Submucous Fibrosis |
Stomatognathic Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029434 |
BXGD002146 |
Osteogenesis Imperfecta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029458 |
BXGD002158 |
Osteoporosis, Postmenopausal |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029459 |
BXGD002159 |
Osteoporosis, Senile |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0029866 |
BXGD002174 |
Other ureteric obstruction |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0029899 |
BXGD002180 |
Otosclerosis |
Otorhinolaryngologic Diseases |
| C0030193 |
BXGD002191 |
Pain |
Pathological Conditions, Signs and Symptoms |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0032209 |
BXGD002334 |
Platybasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0033999 |
BXGD002448 |
Pterygium |
Eye Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0034088 |
BXGD002461 |
Pulmonary Valve Insufficiency |
Cardiovascular Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0036202 |
BXGD002581 |
Sarcoidosis |
Hemic and Lymphatic Diseases |
| C0036310 |
BXGD002594 |
Scheuermann's Disease |
Musculoskeletal Diseases |
| C0036420 |
BXGD002612 |
Localized scleroderma |
Skin and Connective Tissue Diseases |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0037052 |
BXGD002662 |
Sick Sinus Syndrome |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0078981 |
BXGD003059 |
Arachnoid Cysts |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086743 |
BXGD003308 |
Osteoarthrosis Deformans |
Musculoskeletal Diseases |
| C0086942 |
BXGD003315 |
Rous Sarcoma |
Neoplasms; Infections; Animal Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151544 |
BXGD003436 |
Gastrointestinal carcinoma |
Digestive System Diseases; Neoplasms |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152235 |
BXGD003567 |
Congenital genu recurvatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0155502 |
BXGD003796 |
Benign Paroxysmal Positional Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0158486 |
BXGD003888 |
Acquired genu recurvatum |
Musculoskeletal Diseases |
| C0162154 |
BXGD003922 |
Atrophic scar |
Pathological Conditions, Signs and Symptoms |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0162557 |
BXGD003956 |
Liver Failure, Acute |
Digestive System Diseases |
| C0162871 |
BXGD003996 |
Aortic Aneurysm, Abdominal |
Cardiovascular Diseases |
| C0178664 |
BXGD004032 |
Glomerulosclerosis (disorder) |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0202236 |
BXGD004086 |
Triglycerides measurement |
|
| C0206663 |
BXGD004225 |
Neuroectodermal Tumor, Primitive |
Neoplasms |
| C0220668 |
BXGD004317 |
Congenital contractural arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0220685 |
BXGD004320 |
Achondrogenesis type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239137 |
BXGD004965 |
Coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239138 |
BXGD004966 |
Hip joint varus deformity - observation |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240538 |
BXGD005041 |
Convex nasal ridge |
|
| C0241074 |
BXGD005078 |
Hyperextensible skin |
|
| C0241181 |
BXGD005084 |
Fragile skin |
|
| C0263009 |
BXGD005280 |
Sclerosis of the skin |
|
| C0263664 |
BXGD005340 |
Generalized morphea |
Skin and Connective Tissue Diseases |
| C0268338 |
BXGD005902 |
Ehlers-Danlos Syndrome, Type IV |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0268345 |
BXGD005906 |
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0268356 |
BXGD005911 |
Osteogenesis imperfecta with blue sclerae AND normal teeth |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0268358 |
BXGD005913 |
Osteogenesis imperfecta, dominant perinatal lethal |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0268360 |
BXGD005914 |
Osteogenesis imperfecta, recessive perinatal lethal |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0268362 |
BXGD005915 |
Osteogenesis imperfecta type III (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0268363 |
BXGD005916 |
Osteogenesis imperfecta type IV (disorder) |
|
| C0271084 |
BXGD006159 |
Exudative age-related macular degeneration |
Eye Diseases |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278595 |
BXGD006545 |
Adult Fibrosarcoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278996 |
BXGD006621 |
Malignant Head and Neck Neoplasm |
Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0280252 |
BXGD006727 |
stage, colon cancer |
Digestive System Diseases; Neoplasms |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0332878 |
BXGD006904 |
Congenital contracture |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0409495 |
BXGD008387 |
Protrusio acetabuli |
|
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0410702 |
BXGD008447 |
Adolescent idiopathic scoliosis |
Musculoskeletal Diseases |
| C0410787 |
BXGD008450 |
Hereditary Connective Tissue Disorder |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0423757 |
BXGD008504 |
Thin skin |
|
| C0423798 |
BXGD008510 |
Increased tendency to bruise |
Wounds and Injuries |
| C0426824 |
BXGD008588 |
Beading of ribs |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0455988 |
BXGD008860 |
Hydrops Fetalis, Non-Immune |
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 |
| C0456132 |
BXGD008869 |
Large fontanelle |
|
| C0494165 |
BXGD009022 |
Secondary malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0497552 |
BXGD009067 |
Congenital neurologic anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0520739 |
BXGD009106 |
Hereditary pyropoikilocytosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0521170 |
BXGD009131 |
Osteoporotic Fractures |
Wounds and Injuries |
| C0542428 |
BXGD009275 |
Hypochondrogenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0546964 |
BXGD009348 |
Genu recurvatum |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0595995 |
BXGD009634 |
Idiopathic scoliosis |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0751406 |
BXGD010428 |
Post-Traumatic Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0812413 |
BXGD010847 |
Malignant Pleural Mesothelioma |
Neoplasms; Respiratory Tract Diseases |
| C0858864 |
BXGD011194 |
Spot pigmented |
|
| C0917996 |
BXGD011425 |
Cerebral Aneurysm |
Nervous System Diseases; Cardiovascular Diseases |
| C0973461 |
BXGD011595 |
Dysphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1260965 |
BXGD011848 |
Lipoblastoma |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1276035 |
BXGD012100 |
Pena-Shokeir syndrome type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1290344 |
BXGD012183 |
Nonspecific interstitial pneumonia |
Respiratory Tract Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306557 |
BXGD012364 |
Chronic venous insufficiency |
Cardiovascular Diseases |
| C1328407 |
BXGD012465 |
Hip Dysplasia |
Musculoskeletal Diseases; Wounds and Injuries |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1390474 |
BXGD012969 |
Increased susceptibility to fractures |
|
| C1442965 |
BXGD013064 |
Avascular necrosis of the capital femoral epiphysis |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1504336 |
BXGD013137 |
Polypoidal choroidal vasculopathy |
|
| C1511789 |
BXGD013183 |
Desmoplastic |
|
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1800706 |
BXGD013755 |
Idiopathic Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C1833144 |
BXGD013898 |
Slender long bone |
|
| C1833753 |
BXGD013943 |
Biconcave flattened vertebrae |
|
| C1833754 |
BXGD013944 |
Femoral bowing present at birth, straightening with time |
|
| C1833762 |
BXGD013945 |
Decreased calvarial ossification |
|
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837081 |
BXGD014193 |
Tibial bowing |
Musculoskeletal Diseases |
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1844577 |
BXGD014647 |
Hyperextensibility of the finger joints |
|
| C1844592 |
BXGD014649 |
Soft skin |
|
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1849937 |
BXGD015091 |
Disproportionate short-limb short stature |
|
| C1850171 |
BXGD015120 |
Neonatal short-limb short stature |
|
| C1850178 |
BXGD015121 |
Bowing of limbs due to multiple fractures |
|
| C1851801 |
BXGD015236 |
EDS VIIB |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C1853171 |
BXGD015310 |
Multiple prenatal fractures |
|
| C1855340 |
BXGD015490 |
Bowing of the long bones |
|
| C1856087 |
BXGD015571 |
Biconcave vertebral bodies |
|
| C1857034 |
BXGD015667 |
Ehlers-Danlos syndrome, cardiac valvular form |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859443 |
BXGD015891 |
Severe generalized osteoporosis |
|
| C1860450 |
BXGD015984 |
Calcaneovalgus deformity |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1970497 |
BXGD016841 |
Crumpled long bones |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674432 |
BXGD017246 |
Reduced bone mineral density |
|
| C2699541 |
BXGD017461 |
Cytokine Measurement |
|
| C2700425 |
BXGD017468 |
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3150911 |
BXGD018356 |
GASTRIC CANCER, INTESTINAL |
|
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3544347 |
BXGD019116 |
Intestinal fibrosis |
|
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3665629 |
BXGD019297 |
Dental fluorosis |
|
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3830362 |
BXGD019751 |
Early Pregnancy Loss |
Female Urogenital Diseases and Pregnancy Complications |
| C3887461 |
BXGD019876 |
Head and Neck Carcinoma |
Neoplasms |
| C4020847 |
BXGD020486 |
Abnormality of pelvic girdle bone morphology |
|
| C4021629 |
BXGD020705 |
Absent ossification of calvaria |
|
| C4021630 |
BXGD020706 |
Broad long bones |
|
| C4021790 |
BXGD020782 |
Abnormality of the skeletal system |
|
| C4021797 |
BXGD020787 |
Abnormality of the thorax |
|
| C4025813 |
BXGD021805 |
Abnormality of subcutaneous fat tissue |
|
| C4303789 |
BXGD022568 |
Ehlers-Danlos syndrome cardiac valvular type |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C4310978 |
BXGD022692 |
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME |
|
| C4538407 |
BXGD023220 |
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 |
|
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551623 |
BXGD023370 |
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C4552122 |
BXGD023489 |
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 |
|
| C4552766 |
BXGD023523 |
Miscarriage |
Female Urogenital Diseases and Pregnancy Complications |
| C4707243 |
BXGD023712 |
Familial thoracic aortic aneurysm and aortic dissection |
|
| C4721413 |
BXGD023737 |
Juvenile angiofibroma |
Neoplasms; Cardiovascular Diseases |
| C4721509 |
BXGD023749 |
Usual Interstitial Pneumonia |
Respiratory Tract Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|