Cardiomyopathy, Dilated, 1I |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... |
OMIM:604765 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypermethionin... |
OMIM:613752 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... |
OMIM:619868 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Hypertension, Myocardial infarction |
ORPHA:54370 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Hematochezia, Abnormal circulating polysaccharide concentration, Abnormal circul... |
ORPHA:103910 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hypertension, Hyperlipidemia |
OMIM:603278 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Dilated cardiomyopathy, Hepatomegaly, Reduced systolic function |
OMIM:618805 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Immunodeficiency 115 With Autoinflammation |
|
Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, Splenomegaly, ... |
OMIM:620632 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Autoinflammation With Infantile Enterocolitis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Splenomegaly, Diffuse alv... |
OMIM:616050 |
8p23.1 deletion syndrome |
|
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Alg1-Cdg |
|
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Hyperactivity, Patent foramen ovale, Attention deficit hyperact... |
OMIM:617182 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... |
OMIM:618052 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Motor stereotypy, Paroxysmal bursts of laughter |
OMIM:618347 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... |
ORPHA:75565 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Prolonged QT interval, Third heart sound, Arrhythmia, Left ventricular h... |
ORPHA:57777 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Immunodeficiency 27A |
|
Anorexia, Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly |
OMIM:209950 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia |
OMIM:246700 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated plasma citr... |
ORPHA:247585 |
Mpi-Cdg |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension |
ORPHA:79319 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Abnorma... |
ORPHA:85443 |
Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c... |
ORPHA:85451 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Hematochezia, Dysphagia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
Ménétrier Disease |
|
Anorexia, Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia |
ORPHA:2494 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia |
OMIM:616730 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Pulmonary arterial hypertension, Hypoalbuminemia, Overriding aorta, Ventricular sep... |
OMIM:617021 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Vasculitis, Splenomegaly, Hy... |
OMIM:308240 |
Leishmaniasis |
|
Anorexia, Hypoalbuminemia, Hepatomegaly, Splenomegaly |
ORPHA:507 |
Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Congestive heart failure, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Abnormal cardiom... |
ORPHA:367 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Glycine Encephalopathy 1 |
|
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior |
OMIM:605899 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... |
ORPHA:247598 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:618528 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... |
ORPHA:3092 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:619013 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... |
OMIM:267700 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypoproteinemia, Budd-Chiari syndrome, Hypoalbuminemia, Pulmonary embolism |
OMIM:226300 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H... |
ORPHA:86816 |
Coronary Arterial Fistula |
|
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... |
ORPHA:2041 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hypocholesterolemia, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Atrial se... |
OMIM:608776 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Pulmonary emboli... |
ORPHA:567548 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro... |
ORPHA:64753 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S... |
OMIM:614473 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Perimembranous ventricular septal defect, Hepatome... |
OMIM:608104 |
Isolated Right Ventricular Hypoplasia |
|
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... |
ORPHA:439 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Hypoalbuminemia |
ORPHA:64743 |
Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hypotension, Pericardial effusion, Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly |
OMIM:226990 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Increased blood pressure, Hypertension, Portal hypertension, Pericarditis, Pericard... |
OMIM:619487 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... |
OMIM:115197 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, V... |
OMIM:600649 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... |
OMIM:242150 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hep... |
OMIM:603553 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... |
ORPHA:860 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Facial telangiectasia, M... |
OMIM:620141 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Congestive heart failure, Hypoalbuminemia, Constrictive pericard... |
ORPHA:67 |
Avian Influenza |
|
Congestive heart failure, Hypoalbuminemia, Elevated circulating creatine kinase concentration, El... |
ORPHA:454836 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegal... |
OMIM:617303 |
Generalized Pustular Psoriasis |
|
Congestive heart failure, Elevated circulating C-reactive protein concentration, Hypocalcemia, Hy... |
ORPHA:247353 |
Familial Atrial Myxoma |
|
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... |
ORPHA:615 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle, Hy... |
ORPHA:1667 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia |
OMIM:613070 |
Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
Refractory Anemia With Excess Blasts |
|
Palpitations, Abnormal circulating albumin concentration, Retinal hemorrhage, Abnormal circulatin... |
ORPHA:86839 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hematochezia, Hypomagnese... |
OMIM:618183 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia |
ORPHA:85447 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Capillary leak, Hypocalcemia, Hypotension, Elevated circulating creatine kinase conc... |
ORPHA:36234 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects |
OMIM:615508 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatomegaly |
OMIM:602579 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Elevated circulating alpha-f... |
OMIM:251880 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased circulating carnitine concentration, Decreased serum zinc, Decreased circulating iron c... |
ORPHA:89842 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypoalbuminemia, Increased circulating ferritin... |
ORPHA:540 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Enlarged kidney, Patent foramen ovale, Tricuspid regurgitation, Pulmona... |
ORPHA:505248 |
Complete Atrioventricular Septal Defect |
|
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... |
ORPHA:1329 |
Danon Disease |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar... |
OMIM:300257 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:618329 |
Abetalipoproteinemia |
|
Congestive heart failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceride... |
ORPHA:14 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Hyperactivity, Pericardial effusion, Hypoalbuminemia, Atrial septal... |
OMIM:235510 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Aggressiv... |
OMIM:252920 |
Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Aortic regurgitation, Hypergalactosemia, Pulmonic ... |
OMIM:222470 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Cardiomyopathy, Pericardial effusion, Pericarditis, Hypoalbuminemia, Hypocholestero... |
OMIM:212065 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure, Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hy... |
OMIM:617156 |
Marburg Hemorrhagic Fever |
|
Anorexia, Shock, Hypokalemia, Bradycardia, Capillary leak, Hyperamylasemia, Hypotension, Hypovole... |
ORPHA:99826 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotypy, Heart murmur, Attent... |
OMIM:617600 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Hypokalemia |
OMIM:174900 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Melena, Abnormal heart morphology, Hematochezia, Intestinal bleeding... |
ORPHA:79076 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Pulmonary embolism, Hypertension, Hyperlipidemia |
ORPHA:567546 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Right ventricular failure, Intestinal bleeding, R... |
ORPHA:90363 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Hemochromatosis, Type 1 |
|
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration,... |
OMIM:235200 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc |
OMIM:617093 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hepatomegaly, Orthostatic hypotension, Portal hypertens... |
ORPHA:186 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra... |
ORPHA:1677 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Hypertension |
OMIM:610965 |
Alg12-Cdg |
|
Muscular ventricular septal defect, Patent foramen ovale, Hyponatremia, Hypoalbuminemia, Hypochol... |
ORPHA:79324 |
Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... |
OMIM:601214 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Hypertension |
OMIM:617729 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Splenomegaly, Abnor... |
ORPHA:37042 |
Kawasaki Disease |
|
Myocarditis, Congestive heart failure, Elevated circulating C-reactive protein concentration, Vas... |
ORPHA:2331 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
Aorta Coarctation |
|
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... |
ORPHA:1457 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Dysphagia |
OMIM:254900 |
Interatrial Communication |
|
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... |
ORPHA:1478 |
Primary Sclerosing Cholangitis |
|
Congestive heart failure, Hepatomegaly, Spider hemangioma, Portal hypertension, Hepatosplenomegal... |
ORPHA:171 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Hypertension, Hypertrophic cardiomyopathy, Hypocholesterolemia, Elev... |
OMIM:270400 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Hyperactivity, Hypertension, Recurrent hand flapping, Motor stereotypy,... |
ORPHA:449291 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Enlarged polycystic ovaries, Abnor... |
ORPHA:2298 |
Wilson Disease |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia... |
OMIM:277900 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inlet ventricular septal defect, Left-to-right shunt, Splenomegaly, Elevated circulating creatini... |
OMIM:619534 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting |
OMIM:618314 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... |
OMIM:261740 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Hypernat... |
OMIM:619381 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Congestive heart failure, Hypophosphatemic rickets, Hypertension, Cardiomegaly, Dilated cardiomyo... |
OMIM:208000 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Portal hypertension, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Increased circulating thyroglobulin concentration, Tachycardia |
OMIM:609152 |
Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... |
ORPHA:3427 |
Absence Of The Pulmonary Artery |
|
Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Pmm2-Cdg |
|
Angina pectoris, Reduced thyroxin-binding globulin, Hypertrophic cardiomyopathy, Pericarditis, Pe... |
ORPHA:79318 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... |
ORPHA:99125 |