| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomegaly, Conjugat... |
OMIM:620010 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... |
OMIM:616278 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:890 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
| Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:619232 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Secundum atrial septal defect, Elevated circulating S-adenosyl-L-homocysteine... |
OMIM:614300 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
| Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618892 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
ORPHA:766 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Elevated hepatic ... |
OMIM:616860 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:605479 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia |
OMIM:619170 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... |
ORPHA:247598 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:269920 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... |
OMIM:618528 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
| Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:266120 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
ORPHA:234 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235700 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... |
ORPHA:158057 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia |
OMIM:617970 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level |
OMIM:266200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:185000 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232800 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbili... |
OMIM:619662 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... |
OMIM:613280 |
| Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concent... |
ORPHA:79303 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Endoc... |
OMIM:212140 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle,... |
ORPHA:1667 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial effusion |
OMIM:614702 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Double outlet right... |
OMIM:614886 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptog... |
OMIM:613673 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... |
OMIM:300280 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity |
ORPHA:98870 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular septal de... |
OMIM:613404 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... |
OMIM:608836 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:64743 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:294 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hepatos... |
OMIM:603553 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
| Glycogen Storage Disease Xii |
|
Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase... |
OMIM:611881 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:613812 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... |
OMIM:201475 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... |
OMIM:617156 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, D... |
ORPHA:42 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Elevated circulating alpha-fetop... |
OMIM:251880 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... |
ORPHA:3202 |
| Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Conjugated hyperbilirubine... |
OMIM:208085 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... |
OMIM:255120 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:224120 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Hyperbilirubinemia |
ORPHA:822 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Conjugated hyperbil... |
OMIM:614887 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... |
ORPHA:3008 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Patent foramen ovale |
ORPHA:293939 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:288 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia |
ORPHA:348 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... |
OMIM:620609 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Cystic Echinococcosis |
|
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:400 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc |
OMIM:617093 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level |
OMIM:619406 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly |
OMIM:601005 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Hepatomegaly, Conjug... |
ORPHA:567983 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:608885 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:39812 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Hepatomegaly |
OMIM:259720 |
| Lathosterolosis |
|
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia |
OMIM:607330 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration |
ORPHA:90673 |
| Autoimmune Hepatitis |
|
Splenomegaly, Increased total bilirubin |
ORPHA:2137 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:228308 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal heart morphology, Hyperbilirubinemia, Hypertrophic cardiomyopathy |
ORPHA:464321 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
| Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Hyperbilirubinemia |
OMIM:606812 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... |
OMIM:614866 |
| Reynolds Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Calcinosis |
OMIM:613471 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, He... |
ORPHA:186 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... |
OMIM:232300 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:30391 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Increased circulating copper con... |
OMIM:277900 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Dilatation of the ventricular cavity, Hyperbilirubi... |
OMIM:619991 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Splenomegaly, Cardiomegaly, Hepatom... |
ORPHA:465508 |
| Caroli Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:53035 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:308552 |
| Caroli Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:480520 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Ventricular septal defect |
ORPHA:163979 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Bicarbonaturia |
OMIM:229600 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin conce... |
OMIM:620306 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Hyperbilirubinemia, Patent foramen ovale, Ventricular septal defec... |
OMIM:300855 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Conjugated hyperbilirubinemia |
ORPHA:168577 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale, Ventricu... |
ORPHA:163956 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial sept... |
OMIM:613610 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin concentration |
OMIM:218700 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactive protein concentra... |
OMIM:620376 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:557000 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Ventric... |
OMIM:614921 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Increas... |
OMIM:619534 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Ventricular septal de... |
OMIM:301068 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... |
OMIM:620305 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Increased total bilirubin |
ORPHA:84081 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Degcags Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Patent foramen ovale, Ventricular septal defect, Dysplast... |
OMIM:619488 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pancreatic hyperplasia, Elevat... |
ORPHA:99829 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Hyperbilirubinemia, Ventricular septal defect |
OMIM:619475 |
| Congenital Erythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Splenomegaly, Reduced haptoglobin level, Unconjugat... |
ORPHA:79277 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Tetralogy of Fallot, Muscular ventricular septal defect, Hyperbilirubinemia, Patent foramen ovale... |
OMIM:210710 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Unconjugated hyperbilirubinemia, Right ventricular hypertrophy, Atrial septal defect, Patent fora... |
OMIM:620186 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia |
OMIM:613658 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly |
ORPHA:79330 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hep... |
OMIM:252500 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Atrial septal defect |
OMIM:300896 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... |
ORPHA:447 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... |
OMIM:602782 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:365 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... |
ORPHA:581 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Johanson-Blizzard Syndrome |
|
Dilated cardiomyopathy, Situs inversus totalis, Splenomegaly, Hypocalcemia, Ventricular septal de... |
OMIM:243800 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Splenomegaly, Cardiomegaly, Elevated circulating C-react... |
OMIM:256040 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... |
ORPHA:116 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitra... |
ORPHA:904 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:51 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect |
ORPHA:3472 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hypophosphatemic rickets, Cardiomegaly, Pericardial effusion, Myocardial... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
