| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Congestive heart failure, Increased LDL cholesterol concentration, Type II di... |
OMIM:615703 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Myocardial infarction, Hypertriglyceridemia |
OMIM:604091 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketot... |
ORPHA:293964 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance |
ORPHA:140941 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... |
OMIM:618848 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia |
ORPHA:71529 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance |
ORPHA:2398 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin... |
ORPHA:324575 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio |
OMIM:614662 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Preeclampsia |
|
Chronic kidney disease, Elevated systolic blood pressure, Type I diabetes mellitus, Abnormality o... |
ORPHA:275555 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... |
ORPHA:276580 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy |
ORPHA:2613 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... |
ORPHA:528 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepatomegaly... |
ORPHA:465508 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, Diabetes mellitus |
OMIM:602475 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Umbil... |
ORPHA:99886 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Delayed puberty, Hyperinsulinemic ... |
OMIM:616033 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Osteopenia, Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Hepatic... |
OMIM:613327 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... |
ORPHA:603 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Abnormal cortical bone morphology, Hypertension, Osteopoikilosis |
ORPHA:1879 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia, Decreas... |
OMIM:618620 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... |
ORPHA:276556 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Ascites, Incr... |
OMIM:235200 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Acute pancreatitis, Cardiomyopathy, Insulin-resistant diabetes mellitus, Abno... |
ORPHA:79086 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoglycemic seizures, Failu... |
ORPHA:71212 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Nephropathy, Nephrotic syndrome, Congestive heart failure, Hypertrophic ca... |
ORPHA:330001 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Large for gesta... |
ORPHA:263455 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Decreased pla... |
OMIM:619048 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Coronary artery atherosclerosis, Pancrea... |
ORPHA:79084 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... |
ORPHA:280356 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Hepatic steatosis, Telangiectasia of the skin, Lipodystrop... |
OMIM:615381 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus |
OMIM:612526 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Tall stature, Proximal muscle weakness ... |
ORPHA:1878 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,... |
ORPHA:280365 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... |
OMIM:619477 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Nephrotic syndrome, Failure to thrive, Congestive heart failure, Ascites, Splenomegal... |
OMIM:269920 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Keloids, Tarsal sclerosis, Abnormal pelvis bone ossification,... |
ORPHA:166119 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:600995 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone conce... |
ORPHA:95717 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... |
OMIM:608612 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... |
OMIM:615980 |
| Werner Syndrome |
|
Insulin resistance, Neoplasm of the lung, Chondrocalcinosis, Congestive heart failure, Increased ... |
ORPHA:902 |
| Buschke-Ollendorff Syndrome |
|
Connective tissue nevi, Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... |
OMIM:500002 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Arrhythmia, Eleva... |
ORPHA:57777 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis, Abnormal blood gas leve... |
ORPHA:70578 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, We... |
ORPHA:2905 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan... |
ORPHA:79474 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi... |
OMIM:261740 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal... |
ORPHA:26793 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Foot d... |
ORPHA:399103 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... |
OMIM:248370 |
| Hepatic Lipase Deficiency |
|
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hypertriglyceridemia, Hypertension, Decreased serum leptin, Diabetic... |
OMIM:615238 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers |
OMIM:616209 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s... |
OMIM:618234 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... |
OMIM:619489 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly,... |
ORPHA:2204 |
| Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Pedal edema |
ORPHA:564003 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... |
ORPHA:369873 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... |
OMIM:203800 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ... |
ORPHA:226313 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinem... |
ORPHA:95716 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Failure to thrive |
OMIM:615198 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Osteopenia, Truncal obesity, Reduced bone mineral density, Recurrent fractures |
OMIM:620639 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating c... |
OMIM:616516 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level |
OMIM:618856 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71526 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis, H... |
ORPHA:2022 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega... |
OMIM:115197 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Osteopenia, Nephropathy, Generalized aminoaciduria, Rickets, Glycosur... |
ORPHA:2088 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural e... |
OMIM:614702 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Oliguria, Pleural effusion, Leukocytosis, Renal insufficiency, Pulmonary edema, Arrh... |
ORPHA:188 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... |
ORPHA:79083 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Failure to thrive, Glucose intolerance, Joint contracture of the 5th fing... |
OMIM:614407 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Increased circulating cortisol level, Hepatic steatosis, Hepatomegaly,... |
ORPHA:139507 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Hypogl... |
ORPHA:137675 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Obesity And Hypopigmentation |
|
Overgrowth, Obesity, Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypotension, Hypoglycemia, Decreased response to growth hormone stimulation test, Pan... |
ORPHA:95619 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic st... |
ORPHA:2348 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Recurrent pneumonia, Failure to thrive, Elbow ... |
OMIM:214150 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Acute kidney injury, Reduced left ventricular ejection fraction, Elevated circulatin... |
ORPHA:542323 |
| Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:94089 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement |
OMIM:617006 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Brad... |
ORPHA:70587 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... |
OMIM:606528 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck... |
OMIM:151660 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... |
ORPHA:90065 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... |
ORPHA:552 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine |
OMIM:230400 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Hyperglycemia, Inguin... |
OMIM:175700 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:79085 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ... |
OMIM:122860 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia, Dysphagia, Arthritis, Bone cyst |
ORPHA:85446 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... |
OMIM:160150 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... |
ORPHA:1344 |
| Pediatric-Onset Graves Disease |
|
Polyphagia, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Polyd... |
ORPHA:525731 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, A... |
ORPHA:73272 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... |
ORPHA:860 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance |
OMIM:147630 |
| Melorheostosis |
|
Atypical scarring of skin, Failure to thrive, Lymphedema, Joint stiffness, Ectopic ossification i... |
ORPHA:2485 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers |
OMIM:164300 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Micropenis, Flexion contracture... |
OMIM:618815 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Mulibrey Nanism |
|
Congestive heart failure, Ascites, Nephroblastoma, Cardiomegaly, Thickened cortex of long bones, ... |
OMIM:253250 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:66628 |
| Schnitzler Syndrome |
|
Vasculitis, Leukocytosis, Splenomegaly, Anemia, Arthritis, Hepatomegaly, Increased bone mineral d... |
ORPHA:37748 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Arrhythmia, Left ventricular hypertrophy, Wolff-Parkinson-White syndrom... |
OMIM:540000 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:179494 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Pulmonary edema, Hematuria, Glo... |
ORPHA:340 |
| Timothy Syndrome |
|
Pneumonia, Atrioventricular block, Bronchitis, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, P... |
OMIM:601005 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... |
OMIM:618654 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hypertrophic card... |
ORPHA:369 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus |
ORPHA:90301 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... |
OMIM:212140 |
| Scorpion Envenomation |
|
Hyperglycemia, Pulmonary edema, Premature ventricular contraction, Arrhythmia, Tachycardia, Restl... |
ORPHA:466677 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Cardiomyopathy, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, R... |
OMIM:608594 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... |
ORPHA:66529 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Hyperglycemia, Abnormal heart morphology, Ascites, Leukocytosis, Abnormal glu... |
ORPHA:391673 |
| High Altitude Pulmonary Edema |
|
Leukocytosis, Cyanosis, Pulmonary edema, Anorexia, Tachycardia, Hypoxemia |
ORPHA:330012 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Obesity, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:619737 |
| Sandhoff Disease |
|
Failure to thrive, Congestive heart failure, Splenomegaly, Hepatomegaly, Recurrent respiratory in... |
ORPHA:796 |
| Erdheim-Chester Disease |
|
Xanthelasma, Weight loss, Increased bone mineral density, Polydipsia, Abnormal pericardium morpho... |
ORPHA:35687 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Ventricular fibrillation, T... |
ORPHA:358 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... |
ORPHA:75249 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic... |
ORPHA:49827 |
| Fabry Disease |
|
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Anorexia, Nephrotic syndrome... |
ORPHA:324 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Hepatic steatos... |
OMIM:269700 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, H... |
ORPHA:36913 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... |
ORPHA:785 |
| Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Oligohydramnios, Elevated ... |
OMIM:616000 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... |
OMIM:160500 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Cyanosis, Renal tubular dysfun... |
ORPHA:31826 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increased se... |
OMIM:227810 |
| Ogden Syndrome |
|
Torsade de pointes, Hyperbilirubinemia, Ventricular septal defect, Pulmonary edema, Premature ven... |
OMIM:300855 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced bone mineral density, Reduced subcutaneous adipose tissue, Ventricula... |
OMIM:619322 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature |
OMIM:617069 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirub... |
ORPHA:90674 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Ketonuria, Hypoglycemia, Dehydration, Anorexia, Hyperglycemia, Leukocytosis, Agitati... |
ORPHA:134 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... |
OMIM:613530 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic he... |
ORPHA:79087 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... |
OMIM:616329 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... |
OMIM:262190 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Whipple Disease |
|
Insulin resistance, Hypotension, Gastrointestinal hemorrhage, Polydipsia, Splenomegaly, Hyponatre... |
ORPHA:3452 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:606685 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Sinus bradycardia, Left bundle branch block, Glomerular sclerosis, Abnorm... |
ORPHA:439232 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... |
OMIM:616052 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Hypoketot... |
OMIM:610768 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology |
ORPHA:839 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:608807 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Br... |
OMIM:618235 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... |
OMIM:620246 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ... |
ORPHA:567544 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness |
ORPHA:309169 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... |
ORPHA:399086 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Dicar... |
OMIM:212138 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Congestive heart failure, Urinary bladder sphincter dysfunction, Pathologic fract... |
ORPHA:52430 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis |
OMIM:618858 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Long penis, Cholestasis, Hyperg... |
OMIM:246200 |
| Babesiosis |
|
Limitation of joint mobility, Congestive heart failure, Anorexia, Leukopenia, Renal insufficiency... |
ORPHA:108 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Aortic regurgitation, Recurrent upper respiratory tract infections, Oligosacchariduria, Umbilical... |
ORPHA:423461 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle... |
OMIM:500009 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Pancre... |
ORPHA:99885 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Incr... |
ORPHA:90673 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... |
OMIM:607482 |
| Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur... |
ORPHA:77297 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear... |
OMIM:602390 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Limitation of joint mobility, Congestive heart failure, Joint hypermobility, Arrhythmia, Cachexia... |
ORPHA:157973 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Osteopenia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agen... |
ORPHA:2326 |
| Nemaline Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... |
OMIM:256030 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Persistent fetal ... |
ORPHA:363705 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... |
OMIM:614377 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Distal lower limb muscle weakness, Proximal muscle weakness in lower limbs, Obesity, Fatty replac... |
ORPHA:171706 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... |
ORPHA:35878 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Glycogen Storage Disease Iv |
|
Failure to thrive, Cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal circulating creatine kin... |
OMIM:232500 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature coronary artery atherosclerosis, Congestive heart failure, Osteolysis, Absence of subcu... |
OMIM:176670 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Dysphagia, Bradycardi... |
OMIM:609286 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Prader-Willi Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Precocious puberty, Osteopenia, Self-inj... |
OMIM:176270 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
| Late-Onset Isolated Acth Deficiency |
|
Weight loss, Anorexia, Hypoparathyroidism, Pituitary adenoma, Graves disease, Decreased circulati... |
ORPHA:199299 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... |
OMIM:603511 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Oliguria, Xerostomia, Congestive heart failure, Renal insufficiency, Telangi... |
ORPHA:220393 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dysp... |
OMIM:616276 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Cocaine Intoxication |
|
Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Diffus... |
ORPHA:90068 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Nephroblastoma, Hepatomegaly, Fe... |
ORPHA:2849 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... |
ORPHA:154 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... |
OMIM:222100 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
| Estrogen Resistance |
|
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... |
OMIM:615363 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Congestive heart failure, Elbow flexion contracture, Elevated circulating... |
ORPHA:206546 |
| Cednik Syndrome |
|
Hypogonadism, Nephrotic syndrome, Proteinuria, Congestive heart failure |
ORPHA:66631 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula... |
OMIM:616277 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:105200 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr... |
ORPHA:435651 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... |
OMIM:300718 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Neoplasm of the thyroid gland, Reduced bone mineral density, Recurrent fractures, Congestive hear... |
ORPHA:137608 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
