Muscle Cramps, Familial |
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Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
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Elevated circulating creatine kinase concentration |
OMIM:218050 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Plasma Fibronectin Deficiency |
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Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Pseudohypoaldosteronism, Type Iib |
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Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
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Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Glycogen Storage Disease Vi |
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Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
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Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
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Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Chylomicron Retention Disease |
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Failure to thrive, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hyp... |
OMIM:246700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Lipase Deficiency, Combined |
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Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Morbid Obesity And Spermatogenic Failure |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Failure to thrive, Hypocholesterolemia, Decreased HDL cholesterol concentration, Decreased LDL ch... |
OMIM:616834 |
Hyperlipoproteinemia, Type Iv |
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Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
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Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Growth Hormone Insensitivity Syndrome |
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Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Lipodystrophy, Hype... |
OMIM:612526 |
Acute Lung Injury |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Lipodystrophy, Familial Partial, Type 1 |
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Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Erythrocyte Lactate Transporter Defect |
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Elevated circulating creatine kinase concentration |
OMIM:245340 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... |
OMIM:606176 |
Peroxisome Biogenesis Disorder 3B |
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Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Adult Acute Respiratory Distress Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Diarrhea 1, Secretory Chloride, Congenital |
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Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Lipodystrophy, Familial Partial, Type 3 |
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Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperlipidemia, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Obesity |
OMIM:617885 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Potocki-Lupski Syndrome |
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Failure to thrive, Hypocholesterolemia, Small for gestational age |
OMIM:610883 |
Macrophage Activation Syndrome |
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Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:158061 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
Mandibuloacral Dysplasia |
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Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:540 |
Chylomicron Retention Disease |
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Failure to thrive, Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Glycogen Storage Disease Ixa1 |
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Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Akt2-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Lipodystrophy, Hypertriglyceridemia, Increased intraabdominal fat, Insulin-resist... |
ORPHA:79085 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Lipodystrophy, Familial Partial, Type 2 |
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Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Mody |
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Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
Hyperlipoproteinemia, Type V |
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Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circ... |
OMIM:144650 |
Sweet Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Bartter Syndrome, Type 1, Antenatal |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Bartter Syndrome Type 4 |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia |
ORPHA:89938 |
Alg12-Cdg |
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Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... |
ORPHA:79324 |
Congenital Disorder Of Glycosylation, Type Ia |
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Failure to thrive, Flexion contracture, Steatorrhea, Hypocholesterolemia, Hypoalbuminemia, Abnorm... |
OMIM:212065 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Increased body weigh... |
ORPHA:2298 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Bartter Syndrome, Type 2, Antenatal |
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Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... |
OMIM:241200 |
Abetalipoproteinemia |
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Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... |
ORPHA:14 |
Kaufman Oculocerebrofacial Syndrome |
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Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Abdominal obesity, Truncal obesity, Hypercholesterolemia |
OMIM:615812 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... |
ORPHA:90363 |
Dubowitz Syndrome |
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Hypocholesterolemia, Inguinal hernia |
OMIM:223370 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyperkalemia, Hypochloremia, Hyponatremia |
ORPHA:90794 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Hypocalcemia, Severe infection, Brain abscess,... |
ORPHA:544482 |
Smith-Lemli-Opitz Syndrome |
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Failure to thrive, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |