Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... |
OMIM:614021 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Sudden cardiac death, Ventricular tachycardia |
ORPHA:3286 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... |
OMIM:611528 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia |
OMIM:192605 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia |
OMIM:612124 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... |
OMIM:604772 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Syncope, Cardiac arrest, Ventricular tachycardia |
OMIM:614916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... |
OMIM:610193 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia |
OMIM:611938 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Brugada Syndrome |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... |
ORPHA:130 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... |
OMIM:607450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... |
OMIM:604400 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... |
ORPHA:45453 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... |
OMIM:613838 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... |
OMIM:604145 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis |
OMIM:603529 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... |
OMIM:615441 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
His Bundle Tachycardia |
|
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... |
ORPHA:766 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Left ventricular hypertrophy, Cardiomyopathy, Ventricular tachycardia |
OMIM:613873 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... |
OMIM:618920 |
Cardiomyopathy, Dilated, 1Y |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:611878 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... |
OMIM:608758 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:613112 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Atrial Standstill |
|
Atrial standstill, Left ventricular noncompaction, Flexion contracture, Ventricular tachycardia, ... |
ORPHA:1344 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular fibrillation, Foot dorsiflexor weakness, Ventricular tachycardi... |
ORPHA:263297 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... |
OMIM:300835 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Thrombocytopenia, Cyclic |
|
Neutropenia, Cyclic neutropenia, Thrombocytopenia |
OMIM:188020 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:167850 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia |
OMIM:604498 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... |
OMIM:610476 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Brugada Syndrome 1 |
|
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... |
OMIM:601144 |
Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... |
OMIM:613485 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... |
OMIM:616117 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... |
OMIM:619130 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... |
OMIM:224120 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia |
ORPHA:231249 |
Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... |
OMIM:615631 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Hyperkalemia, Thrombocytopenia |
OMIM:141000 |
Anemia, Sideroblastic, 5 |
|
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia |
OMIM:619523 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia |
OMIM:205950 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation |
OMIM:617280 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... |
OMIM:187800 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... |
OMIM:601154 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... |
OMIM:616860 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... |
OMIM:115000 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Long Qt Syndrome 3 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613695 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... |
OMIM:613424 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... |
OMIM:108770 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... |
ORPHA:86841 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... |
OMIM:194200 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Eosinophilia, Familial |
|
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia |
OMIM:131400 |
Long Qt Syndrome 1 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... |
OMIM:192500 |
Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia |
OMIM:133180 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes |
OMIM:220400 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Long Qt Syndrome 12 |
|
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval |
OMIM:612955 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... |
ORPHA:98870 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... |
ORPHA:34217 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia |
OMIM:310095 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Atrial fibrillation, Supr... |
OMIM:612158 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Familial Short Qt Syndrome |
|
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... |
ORPHA:51083 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... |
OMIM:614022 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... |
OMIM:614954 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... |
OMIM:300908 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
OMIM:269600 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:615916 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis |
OMIM:615285 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia |
ORPHA:3319 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia |
OMIM:614302 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:172 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... |
OMIM:611875 |
Peripartum Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... |
ORPHA:563 |
Naxos Disease |
|
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... |
OMIM:601214 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... |
OMIM:619271 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... |
OMIM:173590 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... |
OMIM:212138 |
Long Qt Syndrome 15 |
|
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... |
OMIM:619041 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia |
OMIM:300952 |
Refractory Anemia |
|
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... |
ORPHA:98826 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... |
ORPHA:90064 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes |
OMIM:612347 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:300751 |
Sebastian syndrome |
|
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies |
OMIM:605249 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... |
ORPHA:45452 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly |
OMIM:619658 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... |
OMIM:608567 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Giant platelets, Thrombocytopenia, Macrothrombocytopenia |
OMIM:600208 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia |
ORPHA:517 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Reduced ejection fraction, Ventricular ta... |
OMIM:613426 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... |
ORPHA:99105 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... |
OMIM:616959 |
Refractory Celiac Disease |
|
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... |
ORPHA:398063 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... |
OMIM:604169 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:146200 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... |
OMIM:115200 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia |
OMIM:617243 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... |
OMIM:108950 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia |
OMIM:612526 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... |
OMIM:611493 |
Malignant Hyperthermia Of Anesthesia |
|
Ventricular tachycardia, High-output congestive heart failure, Premature ventricular contraction,... |
ORPHA:423 |
Short Qt Syndrome 2 |
|
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... |
OMIM:609621 |
Long Qt Syndrome 8 |
|
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... |
OMIM:618447 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... |
OMIM:619566 |
Brugada Syndrome 2 |
|
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... |
OMIM:611777 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL cholesterol con... |
OMIM:607616 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... |
OMIM:600858 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Rh Deficiency Syndrome |
|
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... |
ORPHA:71275 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Thrombocytopenia 5 |
|
Neutropenia, Anemia, Thrombocytopenia |
OMIM:616216 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Long Qt Syndrome 14 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... |
OMIM:616247 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia |
ORPHA:169079 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope |
OMIM:600919 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Syncope, Tachycardia, Premature ventricular contraction |
OMIM:192445 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... |
ORPHA:75564 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia, Rhabdomyolysis |
OMIM:188580 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes |
ORPHA:721 |
Polycythemia Vera |
|
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... |
OMIM:263300 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617182 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... |
OMIM:608751 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... |
ORPHA:217607 |
Progressive Familial Heart Block, Type Ib |
|
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... |
OMIM:604559 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... |
OMIM:603552 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia |
OMIM:601198 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... |
ORPHA:206549 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Progressive Familial Heart Block, Type Ii |
|
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... |
OMIM:140400 |
Leber Hereditary Optic Neuropathy |
|
Ventricular preexcitation, Myopathy, Retinal telangiectasia, Arrhythmia |
ORPHA:104 |
Andersen-Tawil Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... |
ORPHA:37553 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... |
ORPHA:34516 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... |
OMIM:163800 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Prolonged ... |
ORPHA:26793 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Rhabdomyol... |
OMIM:616878 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Romano-Ward Syndrome |
|
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... |
ORPHA:101016 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis |
OMIM:300367 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... |
OMIM:159550 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration |
OMIM:179800 |
Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:521 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... |
OMIM:613101 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Ventricular tachycardia, Arrhythmia, Hypotension, Cardiomyopathy |
ORPHA:159 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... |
OMIM:609620 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:47 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... |
OMIM:609040 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Anemia, Hypocalcemia |
ORPHA:53 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... |
OMIM:619464 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93324 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617173 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies |
OMIM:155100 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Long Qt Syndrome 16 |
|
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval |
OMIM:618782 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
Histiocytoid Cardiomyopathy |
|
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... |
ORPHA:137675 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... |
OMIM:616201 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... |
ORPHA:848 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:36913 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb... |
OMIM:616812 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Increased muscle glycogen c... |
ORPHA:368 |
Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... |
ORPHA:90362 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... |
ORPHA:216694 |
Wolfram Syndrome, Mitochondrial Form |
|
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia |
OMIM:598500 |
Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
Transcobalamin Deficiency |
|
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... |
OMIM:259720 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Ogden Syndrome |
|
Ventricular tachycardia, Arrhythmia, Torsade de pointes, Premature ventricular contraction, Supra... |
OMIM:300855 |
Ebstein Anomaly |
|
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... |
OMIM:224700 |
Cardiac Diverticulum |
|
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... |
ORPHA:1686 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... |
OMIM:612926 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis, Cardiogenic shock, Hypotension, Myocardial infarction, Cer... |
ORPHA:449285 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... |
OMIM:202700 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia |
OMIM:613239 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutamine conce... |
ORPHA:101028 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Colchicine Poisoning |
|
Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia, Hypophos... |
ORPHA:31824 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... |
ORPHA:2041 |
Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia, Type 2 muscle fiber atrophy |
OMIM:602668 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia |
OMIM:194350 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94089 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... |
ORPHA:231226 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia |
OMIM:614171 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Acute mono... |
OMIM:601399 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... |
OMIM:613011 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia |
ORPHA:88 |
Gitelman Syndrome |
|
Rhabdomyolysis, Ventricular tachycardia, Hypotension, Prolonged QT interval, Palpitations |
OMIM:263800 |
Slc35A1-Cdg |
|
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Adenosine deaminase, elevated, hemolytic anemia due to |
|
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... |
OMIM:102730 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
+173470 integrin, beta-3 |
|
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... |
OMIM:173470 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... |
OMIM:616050 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... |
ORPHA:158057 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Jervell And Lange-Nielsen Syndrome |
|
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval |
ORPHA:90647 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations |
ORPHA:276556 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Decreased cervical spine flexion... |
ORPHA:98855 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Fechtner syndrome |
|
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies |
OMIM:153640 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Leukocytosis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... |
ORPHA:94093 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Infant Acute Respiratory Distress Syndrome |
|
Bradycardia, Tachycardia, Hypotension, Cardiac arrest |
ORPHA:70587 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations |
OMIM:612240 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Elliptocytosis 2 |
|
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis |
OMIM:141700 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... |
ORPHA:90044 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations |
ORPHA:276575 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Macrocytic anemia, Thrombocytopenia, Hyperammonemia |
ORPHA:27 |
Tako-Tsubo Cardiomyopathy |
|
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... |
ORPHA:66529 |
Omenn Syndrome |
|
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia,... |
OMIM:603554 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia |
OMIM:613845 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:613839 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Tachycardia, Hypertrophic cardiomyopathy, Palpitations |
ORPHA:276580 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:617443 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... |
ORPHA:507 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... |
OMIM:618278 |
Imerslund-Gräsbeck Syndrome |
|
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Decreased cervical spine flexion... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Decreased cervical spine flexion... |
ORPHA:98853 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... |
OMIM:171420 |
Acquired Methemoglobinemia |
|
Syncope, Tachycardia, Arrhythmia, Palpitations |
ORPHA:464453 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Anemia, Thrombocytopenia, Hyperammonemia |
ORPHA:289916 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... |
ORPHA:37042 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Hypocalcemia, Asplenia |
OMIM:602361 |
Eisenmenger Syndrome |
|
Right-to-left shunt, Elevated jugular venous pressure, Ventricular tachycardia, Left-to-right shu... |
ORPHA:97214 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase |
ORPHA:99845 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... |
ORPHA:1329 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... |
ORPHA:98863 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Splenomegaly, Hypercalcemia |
OMIM:618440 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Calcinosis |
OMIM:610455 |
Paragangliomas 3 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:605373 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Iron deficiency anemia, Hypocalcemia, Macrocytic anemia |
OMIM:212750 |
Amed Syndrome, Digenic |
|
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Tachycardia, Palpitations |
ORPHA:324575 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Anemia, Asplenia, Thromb... |
OMIM:185070 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Hyperammonemia |
ORPHA:79312 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... |
ORPHA:86839 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension, Contractures of the interphalangeal joint of the thumb |
OMIM:613870 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... |
ORPHA:36234 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... |
ORPHA:99103 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... |
OMIM:267700 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia |
OMIM:618183 |
Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis |
OMIM:166910 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Primary Myelofibrosis |
|
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... |
ORPHA:824 |
Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
Stiff-Person Syndrome |
|
Axial muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Tachycardia, Proximal lim... |
OMIM:184850 |
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... |
ORPHA:158061 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia |
OMIM:618048 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610333 |
Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... |
ORPHA:231111 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Babesiosis |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
ORPHA:108 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Tachycardia |
OMIM:615821 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:275555 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... |
OMIM:308240 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures |
ORPHA:289157 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Paragangliomas 1 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:168000 |
Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:229717 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Methylmalonic acidemia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:614857 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... |
OMIM:115197 |
Congenital Erythropoietic Porphyria |
|
Reticulocytosis, Increased erythrocyte protoporphyrin concentration, Leukopenia, Poikilocytosis, ... |
ORPHA:79277 |
Hereditary Coproporphyria |
|
Proximal muscle weakness in upper limbs, Tachycardia, Proximal muscle weakness in lower limbs |
ORPHA:79273 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Pearson Syndrome |
|
Pancytopenia, Hypoplastic spleen, Hypokalemia, Hypocalcemia, Splenomegaly, Neutropenia, Anemia, H... |
ORPHA:699 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hyponatremia, Thrombocytopenia |
ORPHA:83601 |
Myh9-Related Disease |
|
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... |
ORPHA:182050 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... |
ORPHA:100026 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Right ventricular hypertrophy, Congestive heart failure, Abnormality of blood circulation, Heart ... |
ORPHA:860 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... |
OMIM:235400 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:603909 |
Specific Granule Deficiency 2 |
|
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules |
OMIM:617475 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Methylmalonic acidemia, Neutropenia, Anemia, Hyperglycinemia, Thrombocytopenia, Hyp... |
OMIM:251110 |
Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia |
ORPHA:173 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Relapsing Fever |
|
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... |
ORPHA:91547 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopenia |
OMIM:150550 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anemi... |
ORPHA:2785 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... |
OMIM:274150 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Splenomegaly, Anemia, Calcinosis, Hypophosphatemia |
OMIM:239200 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:163979 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Thrombocytopenia, Hypoalbuminemia |
OMIM:608104 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Flexion contracture, Muscular dystrophy, Prolonged QT interval, Atrial fibrillation, Skeletal mus... |
OMIM:613327 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Splenomegaly |
OMIM:615846 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Hypotension, Heart block, Capillary leak, Tachycardia |
ORPHA:542323 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... |
ORPHA:411634 |
Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
ORPHA:158029 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis |
OMIM:259710 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Methylmalonic acidemia, Neutropenia, Anemia, Hyperglycinemia, Thrombocytopenia, Hyp... |
OMIM:251100 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Methylmalonic acidemia, Hyperglycinemia, Thrombocytopenia, Hyperammonemia |
OMIM:251000 |
Illum Syndrome |
|
Bradycardia, Calcinosis, Arthrogryposis multiplex congenita |
OMIM:208155 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:79444 |
Danon Disease |
|
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... |
OMIM:300257 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... |
OMIM:603553 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Leukocytosis, Hyperkalemia, Hypocalcemia, Hemolytic anemia, Thrombocytopenia |
ORPHA:544482 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... |
OMIM:615745 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... |
OMIM:304790 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage |
ORPHA:335 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly |
ORPHA:1655 |
Hydroxykynureninuria |
|