| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:608600 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... |
DECIPHER:39 |
| Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Oligomenor... |
OMIM:613877 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism |
ORPHA:88643 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:610947 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
OMIM:615381 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
OMIM:151660 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:2348 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia |
ORPHA:436182 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:603552 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Hypopla... |
OMIM:619313 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Weight loss, Cardiomegaly |
ORPHA:85447 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
ORPHA:280365 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly |
OMIM:613101 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Abnormal heart mor... |
OMIM:182290 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Hypertriglyceridemia, Panniculitis, Increased circulating ferritin concentration |
OMIM:618398 |
| Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Micro... |
OMIM:617575 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hypothyroidism |
OMIM:619013 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158057 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycy... |
ORPHA:79086 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia |
OMIM:177000 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated ... |
OMIM:269700 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decrea... |
OMIM:615947 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... |
ORPHA:247585 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:608594 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hepatosplenomegaly, Azoospermia, Camptoda... |
ORPHA:168569 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, H... |
OMIM:614702 |
| Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperl... |
OMIM:232400 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Bile duct proliferation |
OMIM:613027 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcificatio... |
OMIM:278000 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Spl... |
ORPHA:465508 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive |
OMIM:269920 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Elevated circulating th... |
OMIM:618183 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Panniculiti... |
OMIM:617591 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, O... |
ORPHA:412 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:618838 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... |
ORPHA:79240 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... |
ORPHA:819 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cachexia, Cardiomegaly, Hyperam... |
ORPHA:42 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hyperlipidemia, Delayed puberty, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:369 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra... |
OMIM:613327 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Cholesterol gallstones, H... |
ORPHA:209902 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Diabetes mellitus, Hypertriglyceridemia, Widened atrophic scar, ... |
ORPHA:536532 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Pulmonary... |
ORPHA:363618 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel hypoplasia |
OMIM:253250 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Congenital ... |
OMIM:239850 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Lipodystrophy, Campt... |
OMIM:256040 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten... |
OMIM:601005 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:444490 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Obesity, Cardiomyopathy, Abnormal circulating creatine kinase... |
ORPHA:98907 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevat... |
OMIM:617253 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hypophosphatemia, Failure to thrive |
ORPHA:2088 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:540 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyp... |
ORPHA:470 |
| Werner Syndrome |
|
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Flexion contract... |
OMIM:616897 |
| Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly |
OMIM:619802 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Abnormal he... |
ORPHA:369837 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism... |
OMIM:602782 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Failure to thrive, Hypothyroidism |
ORPHA:349 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Cr... |
OMIM:307030 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesi... |
ORPHA:254346 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Coro... |
ORPHA:31150 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Premature ovarian insufficiency, Abnormal circulating leptin concentrat... |
ORPHA:79474 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Abnormal tricuspid valve morphology, Increased adipose tissue |
ORPHA:199276 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Irregular menstruation, Thyroiditis, Polycyst... |
ORPHA:79259 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Multiple lipomas |
ORPHA:1414 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... |
ORPHA:90041 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thrive in infancy, Sple... |
OMIM:619418 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal insufficienc... |
ORPHA:275761 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:608836 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Decreased HDL cholesterol concentrati... |
ORPHA:77293 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Obesity, Pineal cyst, Cardiomyopathy, Abno... |
ORPHA:98908 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:99931 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pr... |
OMIM:619573 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Umbilic... |
OMIM:618143 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas... |
OMIM:620306 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion ... |
OMIM:619127 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly |
OMIM:613320 |
| Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:158048 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Splenomegaly, Increased circulating fer... |
ORPHA:167 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomeg... |
OMIM:130650 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly |
OMIM:268800 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hypospadias, Lipoatrophy, Small for ge... |
OMIM:264090 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Cardiomegaly |
OMIM:105210 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Priapism |
OMIM:603903 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... |
OMIM:614921 |
| Alagille Syndrome 1 |
|
Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Papillary thyroid carcinoma, ... |
OMIM:118450 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia |
ORPHA:79477 |
| Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Failure to thrive, Cardiomegaly, Decreased... |
ORPHA:14 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Abnormal thymus morphology, Loss of truncal subcutaneous adipose tissue, Cardi... |
ORPHA:2463 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... |
ORPHA:3464 |
| Cantú Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Arthrogrypos... |
OMIM:608013 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... |
OMIM:245600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Biliary hyperplasia, Splenomegaly, Conjugated hyperbilir... |
ORPHA:567983 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia, Failure to thrive |
OMIM:230000 |
| Aapoaiv Amyloidosis |
|
Diabetes mellitus, Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentra... |
ORPHA:439232 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Atrial sept... |
OMIM:619991 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Inguinal hernia, Elevated circulating alpha... |
ORPHA:116 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia |
OMIM:300322 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Ogden Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Cardiomegaly,... |
OMIM:300855 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, C... |
OMIM:252500 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Menorrhagia, Hyperuricemia |
ORPHA:35909 |
| Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Dela... |
OMIM:232220 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abnormal cardiac septu... |
ORPHA:97297 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty |
ORPHA:90154 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Flexion contracture, Umbilical hernia,... |
ORPHA:581 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Hepatosplenomegaly, Hy... |
ORPHA:51 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contractu... |
ORPHA:365 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Failure to thrive |
ORPHA:137675 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicular atrophy |
ORPHA:3063 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty, Enlarged kidney |
OMIM:232200 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
| Fabry Disease |
|
Abnormal endocardium morphology, Hyperlipidemia, Abnormal aortic valve morphology, Delayed pubert... |
ORPHA:324 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Breast aplasia |
ORPHA:90153 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty |
OMIM:232240 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Failure to thrive in infancy, Adrenal calcification, Cardiomegaly, Peric... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Myocardial steatosis |
ORPHA:391665 |
