Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:604765 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Cardiomyop... |
OMIM:613752 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
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 protein concentration, Abnormal circulating p... |
ORPHA:103910 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypertension |
OMIM:603278 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Splen... |
OMIM:616050 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect |
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 |
|
Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick ... |
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 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy |
OMIM:618347 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... |
ORPHA:57777 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Anorexia |
OMIM:209950 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:246700 |
Mpi-Cdg |
|
Hypoalbuminemia, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:79319 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... |
ORPHA:247585 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Al Amyloidosis |
|
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Monoclonal l... |
ORPHA:85443 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hematochezia, Dysphagia, Hypoalbuminemia |
ORPHA:2070 |
Ménétrier Disease |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia, Anorexia |
ORPHA:2494 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect |
OMIM:616730 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Second degree atrioventricular block, Ventricular septal defect, Overriding aort... |
OMIM:617021 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Vasculitis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein ... |
OMIM:308240 |
Leishmaniasis |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Anorexia |
ORPHA:507 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Abnormal c... |
ORPHA:367 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... |
OMIM:618528 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... |
ORPHA:3092 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:619013 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Pulmonary embolism, Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia |
OMIM:226300 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... |
ORPHA:86816 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... |
ORPHA:64753 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... |
ORPHA:88618 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, Pericardi... |
OMIM:608776 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... |
ORPHA:567548 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
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 |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Perimembranous ventricular septal... |
OMIM:608104 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension, Splenomegaly |
ORPHA:64743 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly |
OMIM:226990 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Cardiomyopathy, Hyperammonemia, Myocarditis, Pericardial effusion |
ORPHA:292 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatosplenomegaly, Pericardial effusion, Portal hypertension, Self-mutilation, ... |
OMIM:619487 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hypert... |
ORPHA:158061 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... |
OMIM:242150 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hepatos... |
OMIM:603553 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Facial telangiectasia, Impulsivity, Attention deficit hyperactivity dis... |
OMIM:620141 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Abnormal pericardium morphology, Constrictive pericarditis, Congestive heart fai... |
ORPHA:67 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial sept... |
OMIM:617303 |
Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Hyponatremia, Elevated circulating C-rea... |
ORPHA:247353 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... |
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 |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle,... |
ORPHA:1667 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia |
OMIM:613070 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Abnormal circulating protein concentration, Palpitations, Abnormal circulatin... |
ORPHA:86839 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, ... |
OMIM:618183 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,... |
ORPHA:36234 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects, Hypernatremia |
OMIM:615508 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Hepatomegaly, Elevated ci... |
OMIM:251880 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatomegaly |
OMIM:602579 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia... |
ORPHA:540 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hypoproteinemia |
ORPHA:90362 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Congestive heart failure, Tricuspid regurgitation, Hypertrophic cardiomyopathy, ... |
ORPHA:505248 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:618329 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir... |
ORPHA:14 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Ventricular septal defect, Atrial septal defect, Hyperactivity, Pericardial effu... |
OMIM:235510 |
Reni Syndrome |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Aortic regurgitati... |
OMIM:222470 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Congestive heart failure, Hyperbilirubinemia, Hypertyrosinem... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Cardiomyopathy, Hypocholesterolemia, Hepatomegaly, Pericardial effusion, Pericar... |
OMIM:212065 |
Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... |
ORPHA:99826 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Heart murmur, M... |
OMIM:617600 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Hypokalemia |
OMIM:174900 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Abnormal heart m... |
ORPHA:79076 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hypertension, Hyperlipidemia, Pulmonary embolism |
ORPHA:567546 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Reduced circulating transferrin ... |
ORPHA:90363 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Intraventricular hemorrhage, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc |
OMIM:617093 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Portal hypertension, Splenomegaly, Hyp... |
ORPHA:186 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Hypertension |
OMIM:610965 |
Alg12-Cdg |
|
Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricular septal defe... |
ORPHA:79324 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Hypertension |
OMIM:617729 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circulating prealbumin con... |
ORPHA:37042 |
Kawasaki Disease |
|
Hypoalbuminemia, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal d... |
ORPHA:2331 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Dysphagia |
OMIM:254900 |
Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Hepatospleno... |
ORPHA:171 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Hypertrophic cardiomyopathy, Hypocholesterolemia, Elevated circulating 7-dehydro... |
OMIM:270400 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Mitral valve prolapse... |
ORPHA:449291 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Enlarged polycyst... |
ORPHA:2298 |
Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Increased circulating copper con... |
OMIM:277900 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Hyperbilirubinemia, Ventricular septal defect, Dextroca... |
OMIM:619534 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... |
OMIM:261740 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Splenomegaly, Vasculitis in the skin, Anorexia, Elevated circulating C-reactive ... |
OMIM:619381 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Hyperte... |
OMIM:208000 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Portal hypertension, Hypocalcemia |
OMIM:613658 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Hyperactivity, Increased circulating thyroglobulin concentration |
OMIM:609152 |
Double Outlet Left Ventricle |
|
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... |
ORPHA:3427 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Pmm2-Cdg |
|
Hypoalbuminemia, Hypertrophic cardiomyopathy, Reduced thyroxin-binding globulin, Angina pectoris,... |
ORPHA:79318 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |