| C0000889 |
BXGD000018 |
Acanthosis Nigricans |
Skin and Connective Tissue Diseases |
| C0001339 |
BXGD000041 |
Acute pancreatitis |
Digestive System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0005937 |
BXGD000350 |
Bone Cysts |
Neoplasms; Musculoskeletal Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013390 |
BXGD000828 |
Dysmenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020505 |
BXGD001412 |
Hyperphagia |
Pathological Conditions, Signs and Symptoms |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0021655 |
BXGD001508 |
Insulin Resistance |
Nutritional and Metabolic Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023473 |
BXGD001661 |
Myeloid Leukemia, Chronic |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023487 |
BXGD001669 |
Acute Promyelocytic Leukemia |
Neoplasms |
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal Diseases |
| 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 |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0028949 |
BXGD002100 |
Oligomenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030252 |
BXGD002199 |
Palpitations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0030305 |
BXGD002206 |
Pancreatitis |
Digestive System Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038449 |
BXGD002758 |
Stricture of artery |
Cardiovascular Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0151639 |
BXGD003452 |
Decreased fertility in females |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0158981 |
BXGD003914 |
Neonatal diabetes mellitus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0221032 |
BXGD004374 |
Familial generalized lipodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0232940 |
BXGD004569 |
Secondary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0235986 |
BXGD004799 |
Growth hormone excess |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0239998 |
BXGD005012 |
Recurrent infections |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases |
| C0241240 |
BXGD005089 |
Tall stature |
|
| C0268731 |
BXGD006029 |
Renal glomerular disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0271561 |
BXGD006213 |
Somatotropin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0271694 |
BXGD006239 |
Familial partial lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0281361 |
BXGD006774 |
Adenocarcinoma of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0340279 |
BXGD007314 |
Ventricular hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0392525 |
BXGD008052 |
Nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0404531 |
BXGD008321 |
Hypertrophy of labia |
|
| C0425957 |
BXGD008555 |
Secondary amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0426870 |
BXGD008592 |
Large hand |
|
| C0428977 |
BXGD008644 |
Bradycardia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0432291 |
BXGD008767 |
Mandibuloacral dysostosis |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0494360 |
BXGD009026 |
Lipodystrophy, not elsewhere classified |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0545053 |
BXGD009323 |
Advanced bone age |
|
| C0576225 |
BXGD009526 |
Long foot |
Musculoskeletal Diseases |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1280433 |
BXGD012125 |
Lipoatrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1560305 |
BXGD013362 |
Prolonged QTc interval |
|
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1720862 |
BXGD013691 |
Congenital Generalized Lipodystrophy Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1720863 |
BXGD013692 |
Congenital Generalized Lipodystrophy Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836156 |
BXGD014085 |
Progressive proximal muscle weakness |
|
| C1837764 |
BXGD014268 |
Loss of subcutaneous adipose tissue in limbs |
|
| C1837792 |
BXGD014272 |
Insulin-resistant diabetes mellitus at puberty |
|
| C1837795 |
BXGD014273 |
Prominent umbilicus |
|
| C1837799 |
BXGD014274 |
Generalized muscular appearance from birth |
|
| C1837802 |
BXGD014275 |
Decreased serum leptin |
|
| C1842060 |
BXGD014491 |
Prominent supraorbital ridges |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1850830 |
BXGD015181 |
Exercise-induced myalgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System 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 |
| C1857657 |
BXGD015732 |
Reduced subcutaneous adipose tissue |
|
| C1858025 |
BXGD015760 |
Spinal rigidity |
|
| C1859592 |
BXGD015912 |
ATRICHIA WITH PAPULAR LESIONS |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1866241 |
BXGD016389 |
Broad foot |
Musculoskeletal Diseases |
| C1963217 |
BXGD016689 |
Prolonged QTc Interval, CTCAE |
|
| C2265792 |
BXGD017012 |
Skeletal muscle hypertrophy |
|
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3160712 |
BXGD018467 |
Palpitations, CTCAE |
|
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3495427 |
BXGD018984 |
Fanconi-Bickel Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C4021749 |
BXGD020754 |
Cystic angiomatosis of bone |
Neoplasms; Musculoskeletal Diseases |
| C4023051 |
BXGD021084 |
Abnormality of skeletal muscle fiber size |
|
| C4025887 |
BXGD021847 |
Abnormal oral cavity morphology |
|
| C4317112 |
BXGD022726 |
Generalized Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C4476537 |
BXGD022822 |
Reduced intrathoracic adipose tissue |
|
| C4476602 |
BXGD022838 |
Reduced intraabdominal adipose tissue |
|
| C4511302 |
BXGD022999 |
Genetic lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C4521256 |
BXGD023058 |
Glomerulopathy Assessment |
|
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551838 |
BXGD023417 |
Talipes transversoplanus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |