| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... |
OMIM:617610 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly, Ataxia, Dementia |
ORPHA:2274 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase conc... |
OMIM:615184 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death, Juvenile cataract |
OMIM:212500 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:615382 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... |
OMIM:618660 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... |
OMIM:619902 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration |
ORPHA:254704 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... |
ORPHA:1344 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Increased circulating iron concentration, Increased mean corpuscular volume, Increased to... |
ORPHA:98870 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function |
OMIM:600666 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental cataract, Corneal... |
OMIM:618815 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... |
ORPHA:71275 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... |
OMIM:603902 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... |
OMIM:616217 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... |
OMIM:237800 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Ataxia |
OMIM:617562 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... |
ORPHA:66529 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... |
OMIM:208540 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice |
OMIM:613977 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Recur... |
OMIM:145001 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... |
OMIM:613095 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Mildly elevated creatine kinase, Bradycardia |
OMIM:620265 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Ataxia, Jaundice, Hemolytic anemia |
ORPHA:33574 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... |
ORPHA:3032 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Tremor, Irritability, Reticulocytosis, Ataxia, Dystonia, Hemolytic anemia, Choreoat... |
OMIM:612126 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Hemochromatosis, Type 4 |
|
Cataract, Cardiomyopathy, Increased circulating ferritin concentration, Arrhythmia, Anemia, Eleva... |
OMIM:606069 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Decreased plasma free carnitine, Left ventricu... |
OMIM:619048 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Dystonia, 3-Methylglutaconic aciduria, Progressive cerebellar ataxia |
ORPHA:67046 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Ventricular sept... |
OMIM:618775 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Impaired pain sensation, Paresthesi... |
OMIM:616719 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst, Decreased liver function |
OMIM:614870 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Cognitive impair... |
OMIM:615993 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia |
OMIM:616276 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... |
ORPHA:882 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Ele... |
OMIM:212138 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Second degree atrioventricular block, Increased mean corpuscular volume, Extrame... |
OMIM:617021 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:609115 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Decreased circulating carnitine concentration, Brady... |
OMIM:618235 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus, Decreased HDL cholesterol concentration |
OMIM:618463 |
| Systemic Primary Carnitine Deficiency |
|
Hepatomegaly, Confusion, Elevated circulating hepatic transaminase concentration |
ORPHA:158 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Splenomegaly, Motor deterioration, Ataxia, Hepatomegaly |
ORPHA:796 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... |
OMIM:231680 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Renal cyst, Polycystic liver disease |
OMIM:174050 |
| Trimethylaminuria |
|
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Cataract, Dilated cardiomyopathy, Microcytic anemia, Reduced systolic function |
OMIM:618805 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Tremor, Irritability, Thrombocytopenia, Hepatomegaly, Dystonia, Hemolytic anemia |
OMIM:615010 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... |
ORPHA:101016 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:615352 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231226 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... |
OMIM:601005 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Opisthotonus, Polycythemia, Tremor, Methemoglobinemia |
OMIM:250800 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus... |
ORPHA:542306 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... |
OMIM:258900 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Dystonia, Splenomegaly |
ORPHA:139406 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
| Nathalie Syndrome |
|
Cataract, Abnormal EKG |
OMIM:255990 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... |
OMIM:616299 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... |
OMIM:105200 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Tremor, Ataxia, Hepatomegaly, Dystonia |
OMIM:615924 |
| Glycogen Storage Disease Iv |
|
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, Portal hy... |
OMIM:232500 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... |
OMIM:243910 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradycardia, Pericard... |
OMIM:614702 |
| Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... |
OMIM:616216 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia, Abnormality of the kidney |
ORPHA:284227 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... |
OMIM:620010 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Cogn... |
ORPHA:731 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Coproporphyria, Hereditary |
|
Depression, Elevated urinary coproporphyrin level, Confusion, Increased urinary porphobilinogen, ... |
OMIM:121300 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... |
OMIM:612561 |
| Gaucher Disease, Type Iii |
|
Progressive neurologic deterioration, Depression, Dementia, Pancytopenia, Splenomegaly, Thrombocy... |
OMIM:231000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Alaninuria, Elevated... |
OMIM:615158 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab... |
ORPHA:309854 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Ascites |
OMIM:608776 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal hea... |
ORPHA:1345 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatic failure, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Myoglobi... |
ORPHA:157 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Renal insufficiency, Renal tubular dysfunction, Anemia, Pancreatitis, Neutropenia, Thromb... |
ORPHA:289916 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Emot... |
OMIM:300653 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating hepatic transaminase concentration, Renal dysplasia, Elevated circulating as... |
OMIM:608836 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... |
ORPHA:848 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic failure, Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, ... |
ORPHA:228308 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cysts, E... |
OMIM:193300 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre... |
ORPHA:369 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Paresthesia |
ORPHA:2398 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biv... |
OMIM:261740 |
| Harderoporphyria |
|
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... |
OMIM:618892 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:100024 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno... |
OMIM:185000 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Niemann-Pick Disease, Type B |
|
Mental deterioration, Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegal... |
OMIM:607616 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia |
OMIM:263210 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Paresthesia, Portal hypertension, Splenomegaly, Leukocytosis, Porta... |
ORPHA:729 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... |
OMIM:216360 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating hepatic transaminase concentra... |
ORPHA:26791 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Babesiosis |
|
Hepatic failure, Depression, Confusion, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocyt... |
ORPHA:108 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Cognitive impairment, Hepatomegaly, Jaundice |
ORPHA:172 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Renal hypoplasia, Ascites, Renal cyst, Polycystic kidney dysplasia, Hypospadias |
OMIM:614091 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria |
ORPHA:79238 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis,... |
OMIM:214110 |
| Femoral-Facial Syndrome |
|
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Splenomegaly, Intermittent jaundice |
OMIM:179700 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... |
OMIM:194380 |
| Rhyns Syndrome |
|
Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:417 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... |
OMIM:235700 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Ascites, Renal insufficiency, Hepatomega... |
ORPHA:890 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... |
OMIM:607361 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... |
ORPHA:75566 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hype... |
ORPHA:846 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Neutropenia,... |
OMIM:617056 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:2123 |
| Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia |
ORPHA:3299 |
| Poems Syndrome |
|
Hyperesthesia, Visceromegaly, Polycythemia, Ascites, Paresthesia, Splenomegaly, Thrombocytosis, H... |
ORPHA:2905 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ... |
OMIM:613313 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... |
ORPHA:439232 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... |
OMIM:266200 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Pericarditis |
ORPHA:163596 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Renal hypoplasia, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplas... |
ORPHA:84064 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Renal insufficiency, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Ataxi... |
ORPHA:27 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Renal tubular cyst, Gl... |
OMIM:614817 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Intention tremor |
OMIM:610539 |
| Necrotizing Enterocolitis |
|
Hypotension, Shock, Abnormal heart morphology, Leukocytosis, Hyponatremia, Neutropenia, Bradycard... |
ORPHA:391673 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Hypoplasi... |
ORPHA:40366 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Palpitations, Elevated circulating creatine kinase concentr... |
OMIM:616812 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Athetosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepatosple... |
OMIM:614866 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... |
ORPHA:79303 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Renal insufficiency |
ORPHA:28 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Confusion, Renal insufficiency, Reticuloc... |
ORPHA:54057 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... |
OMIM:618278 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomeg... |
ORPHA:79312 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Tremor, Proteinuria, Schistocytosi... |
OMIM:274150 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto... |
OMIM:614470 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Conjunctival icterus, Congestive h... |
ORPHA:57777 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hyperammonemia, Bradycardia |
OMIM:610015 |
| Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Cognitive... |
ORPHA:858 |
| Sengers Syndrome |
|
Cataract, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Develop... |
OMIM:212350 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:1909 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Thromboc... |
ORPHA:94093 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Axial Osteomalacia |
|
Renal cyst, Polycystic liver disease |
OMIM:109130 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... |
OMIM:600886 |
| Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... |
OMIM:610205 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate... |
ORPHA:97214 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Isothenuria... |
OMIM:611590 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... |
OMIM:619868 |
| Sepsis In Premature Infants |
|
Hypotension, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, N... |
ORPHA:90051 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... |
OMIM:232700 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly, Jaundice |
OMIM:603552 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis |
ORPHA:3033 |
| Trisomy 17P |
|
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis |
ORPHA:261290 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... |
ORPHA:422 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
| Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Cataract, Ectopia lentis, Mitral regurgitation, Ventricular septal defect,... |
ORPHA:3449 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... |
OMIM:610333 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:604387 |
| Trisomy X |
|
Multicystic kidney dysplasia, Depression, Tremor, Renal hypoplasia/aplasia, Attention deficit hyp... |
ORPHA:3375 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Prolonged... |
OMIM:613327 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Acquired Methemoglobinemia |
|
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia |
ORPHA:464453 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... |
ORPHA:314588 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Wolman Disease |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
OMIM:619463 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... |
OMIM:615234 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea... |
OMIM:614883 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... |
ORPHA:79277 |
| Fumarase Deficiency |
|
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Poly... |
OMIM:606812 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Decreased liver function, Elevated circulating aspartate aminotransf... |
OMIM:230400 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... |
ORPHA:1067 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Left v... |
OMIM:615418 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Bradycardia |
OMIM:617397 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... |
ORPHA:400 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Irritabil... |
OMIM:613489 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:603860 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Absent circulating B cells, Decreased propo... |
OMIM:619705 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Coombs-p... |
OMIM:619375 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... |
ORPHA:2169 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Renal cyst, Cirrhosis, Hepatomegaly |
OMIM:602579 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Proximal tubulopathy, Decreased liver function, Extramedullary hematopoiesis, Per... |
ORPHA:231222 |
| Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts |
OMIM:613824 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... |
ORPHA:85445 |
| Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice |
ORPHA:234 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly |
OMIM:618852 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, T... |
ORPHA:90037 |
| Sialidosis Type 2 |
|
Nephropathy, Ascites, Splenomegaly, Tremor, Ataxia, Hepatomegaly |
ORPHA:87876 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615351 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Cystathioninemia, Hypomethioninemia, Pulmonary arterial hypertension, Megaloblastic ... |
OMIM:277400 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Tachycardia, Shock, Elevated circulating crea... |
ORPHA:99826 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Dystonia, Splenomegaly |
ORPHA:77260 |
| Alpha-Heavy Chain Disease |
|
Ascites, Hepatomegaly, Anemia, Splenomegaly |
ORPHA:100025 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid... |
OMIM:613550 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... |
ORPHA:91547 |
| Livedoid Vasculopathy |
|
Hyperesthesia, Polycythemia, Pancytopenia, Paresthesia, Leukocytosis, Anemia |
ORPHA:542643 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protei... |
ORPHA:319213 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Decreased liver function, Acute hepatitis, Confusion, Dysmetria, He... |
OMIM:238970 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Developmental And Epileptic Encephalopathy 101 |
|
