| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... |
OMIM:617182 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retinopathy, Anemia, T... |
ORPHA:673 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... |
OMIM:237800 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia |
OMIM:617173 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| Rotor Syndrome |
|
Conjunctival icterus, Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Pulmonary venous h... |
ORPHA:3202 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... |
OMIM:620010 |
| Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Abnormal autonomic nervous system physiology, S... |
ORPHA:101016 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Facial p... |
OMIM:601419 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... |
ORPHA:71275 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism, Ptosis |
OMIM:610539 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, Th... |
OMIM:618775 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Wide nasal bridge |
OMIM:209970 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Tachycardia, Increased total bilirubin, Autoimmune hemolytic anemia, Congestive hea... |
ORPHA:90037 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Bradycardia, Decreased plasma free carnitine, Congestive heart failure |
OMIM:619048 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Portal hypertension, Increased total ir... |
OMIM:616278 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... |
OMIM:616860 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Abnormal macular m... |
OMIM:607616 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ta... |
ORPHA:91547 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
| Atrial Standstill 2 |
|
Hyperpepsinogenemia I, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial ... |
OMIM:615745 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
| Cardiomyopathy, Dilated, 1D |
|
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Increased le... |
OMIM:601494 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Paroxysmal atrial tachycardia, Retinal dystrophy, Optic atrophy, Thrombocyt... |
ORPHA:49827 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Epicanthus, Conjugated hyperbilirubinemia, Congestive heart... |
OMIM:269920 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... |
OMIM:235700 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia |
OMIM:189800 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... |
OMIM:263300 |
| Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... |
ORPHA:288 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thro... |
ORPHA:98826 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Decreased hemoglobin concentration, Retinal dystrophy, Hemolytic anemia, Reti... |
ORPHA:713 |
| Glutamine Deficiency, Congenital |
|
Hyperammonemia, Short nose, Hypoglutaminemia, Wide nasal bridge, Bradycardia |
OMIM:610015 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... |
OMIM:232800 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia |
OMIM:614498 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... |
OMIM:618892 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia,... |
ORPHA:54057 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... |
OMIM:266200 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia, Bradycardia |
OMIM:617248 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Unilateral ptosis |
OMIM:300928 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Increased total bilirubin |
ORPHA:2924 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia |
OMIM:130600 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Arrhythmia, Optic atrophy, Retinal vascular tortuosity, Ventricular preex... |
ORPHA:104 |
| Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Tachycardia |
ORPHA:90036 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Retinal degeneration, Arrhythmia, Cone/cone-rod dystrophy, Optic atrophy, T... |
OMIM:249270 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema, Hypertension |
OMIM:243200 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Portal hypertension, Gastrointesti... |
ORPHA:64743 |
| Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
| Tetanus |
|
Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase concentration,... |
ORPHA:3299 |
| Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine ... |
OMIM:611881 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Absent eyebrow, Sparse eyelashes, Downslanted palpebral fissures, Attention d... |
OMIM:619075 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Pulmonic stenosis, Hyperbilirubinemia |
OMIM:614300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Palpitations, Retinal hemorrhage, Abnormal mean co... |
ORPHA:86839 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Sideroblastic anemia, Arrhythmia, Thrombocytopenia |
OMIM:617021 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Prolonged PR in... |
ORPHA:542306 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Elevated circulating creatine kinase concentration, Cone dystrophy |
OMIM:268040 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Extramedullary hemat... |
ORPHA:822 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Third degree atrioventricular block, Abnormal retinal morphology, Epica... |
ORPHA:40366 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Macrocytic anemia, Optic atrophy, Anemia, Thrombocytopenia, Cardiomyo... |
ORPHA:27 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
| Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Telangiectasia, Thrombo... |
ORPHA:101028 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... |
OMIM:210250 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
| Fetal Parvovirus Syndrome |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:295 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, A... |
OMIM:615558 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Bradycardia, Abnormal circulating thyroglobulin level |
ORPHA:95716 |
| Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
| Timothy Syndrome |
|
Hypocalcemia, Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... |
ORPHA:542323 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Abnormal conjunctiva morphology, Conjunctival icterus, Hypoalbum... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbum... |
ORPHA:529808 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Wild Type Attr Amyloidosis |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:330001 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Hypotension, Shock, Hyponatremia, Neutropenia, Thrombocytopenia, Bradycardia |
ORPHA:391673 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Anemia, Ele... |
ORPHA:231111 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
| Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thr... |
OMIM:301080 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Optic atrophy, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:79312 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Sensory axonal neuropathy, Bradycardia, Cardiomyopathy, Ptosis |
OMIM:609286 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Abnormal autonomic nervous system physiology, Thrombocytopenia, Optic atrop... |
OMIM:598500 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor, Faci... |
OMIM:611490 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Optic atrophy, Facial palsy, Thrombocytopenia |
OMIM:615085 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Leukocytosis, Elevate... |
ORPHA:94093 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Decreased nerve conduction velocity, Acute myelomonocytic leukem... |
OMIM:159550 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Optic atrophy, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614702 |
| Pontocerebellar Hypoplasia Type 10 |
|
Long palpebral fissure, Optic atrophy, Long eyelashes, Highly arched eyebrow, Wide nasal bridge |
ORPHA:411493 |
| Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Hypertension, Thrombocytopenia, Raynaud phenomenon |
ORPHA:401945 |
| Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hyperbili... |
ORPHA:14 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long eyebrows, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Amed Syndrome, Digenic |
|
Leukopenia, Telecanthus, Attention deficit hyperactivity disorder, Anemia, Thrombocytopenia, Acut... |
OMIM:619151 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Portal hypertension, Thrombocytopenia |
OMIM:251880 |
| Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... |
OMIM:615184 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Abnormality of the palpebral fissures, Sparse eyebrow, Epicanthus, Highly arched e... |
ORPHA:521258 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Arrhythmia, Aplastic anemia, Hemolytic anemia, Abnormal electrophysiol... |
ORPHA:398124 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Congenital bilateral ptosis, Neonatal hy... |
ORPHA:73272 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Preeclampsia |
|
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Hypertension, Th... |
ORPHA:275555 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Cardiomyopathy, Dilated, 2F |
|
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... |
OMIM:619747 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemi... |
OMIM:259720 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Optic atrophy, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
| Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Optic atrophy, Microcytic anemia, Neutropenia... |
OMIM:251900 |
| Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... |
ORPHA:439232 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormality of iron homeostasis, Microcytic ... |
ORPHA:848 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Elevated circulating creatine kinase concentration, Syncope, Second degree atrioven... |
OMIM:616812 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hemophagocytosis, Splenomegaly, He... |
OMIM:603553 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141179 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Sparse eyelashes, Dilated cardiomyopathy, Increased circulating free fatty acid l... |
OMIM:610768 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
| Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
| Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Tachycardia, H... |
ORPHA:90051 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Epistaxis |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Epistaxis |
OMIM:613554 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Lathosterolosis |
|
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Incr... |
OMIM:607330 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Hyperactivity, Wide nasal bridge |
OMIM:300983 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Gastroi... |
OMIM:231200 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hyperbilirubinemia, Hematemesis, Muscle hemorrh... |
ORPHA:464321 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Optic nerve hypoplasia, Bradycardia |
OMIM:220120 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Optic atrophy, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Normoc... |
OMIM:610198 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyo... |
OMIM:204200 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hyperbilirubinemia, Steatorrhea, Extramedullary hematopoiesis, Abnormal serum bile acid concentra... |
ORPHA:79303 |
| Rhabdoid Tumor |
|
Internal hemorrhage, Hypercalcemia, Hypertension, Anemia, Thrombocytopenia |
ORPHA:69077 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Decreased mean corpuscular volume, Anisocytosis, Retinal... |
OMIM:616959 |
| +173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... |
OMIM:173470 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141184 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612922 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
| Fumarase Deficiency |
|
Optic atrophy, Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Attention deficit hyperactivity disorder, Hypercholeste... |
ORPHA:90674 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Tachycardia, Hypertriglyceridem... |
OMIM:613327 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612926 |
| Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Wide nasal bridge, Hyperbilirubinemia, Elevated circulating long chain fatty acid con... |
OMIM:614886 |
| Stormorken Syndrome |
|
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Epistaxis, Asplenia... |
OMIM:185070 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Epistaxis, Macrothrombocytopenia |
OMIM:616176 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Budd-Chiari syndrome, Increased blood urea nitrogen, Anemia, Leukopenia, Pulmonary embolism, Abno... |
ORPHA:447 |
| Distal Xq28 Microduplication Syndrome |
|
Upper eyelid edema, Aplasia/Hypoplasia of the eyebrow, Attention deficit hyperactivity disorder, ... |
ORPHA:293939 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Leukopenia, Chorioretinal hypopigmentation, Thrombocytopenia, Optic atrophy, Teleca... |
OMIM:617303 |
| Coffin-Siris Syndrome 8 |
|
Thick eyebrow, Long eyelashes, Hyperactivity, Ptosis |
OMIM:618362 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Hypermanganesemia With Dystonia 1 |
|
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Increased circulating farnesol concentration, Hypocholesterolemia, Decrea... |
OMIM:618156 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Alazami-Yuan Syndrome |
|
Thick eyebrow, Hyperactivity, Long eyelashes, Synophrys, Highly arched eyebrow |
OMIM:617126 |
| Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... |
ORPHA:35858 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Th... |
OMIM:614857 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Thick eyebrow, Hyperactivity, Short palpebral fissure, Upslanted palpebral fissure, Downslanted p... |
OMIM:615834 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Retinal dysplasia |
OMIM:613154 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic neuritis, Elevated circulating creatine kinase concentration, Sensory axonal neuropathy, Op... |
ORPHA:254886 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Conjunctivitis, Neutropenia |
OMIM:616740 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Sarcosinemia |
|
Pulmonic stenosis, Hypersarcosinemia, Hypertrophic cardiomyopathy, Optic atrophy |
ORPHA:3129 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612925 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity |
OMIM:239500 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, Hyperammonemia, Elevated... |
ORPHA:99901 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Sideroblastic anem... |
OMIM:222300 |
| Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
| Wolcott-Rallison Syndrome |
|
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Syncope, Bradycardia, Jaw claudication, Abnormal glossopha... |
ORPHA:221098 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperlysinemia, Hypervalinemia, Hyperactivity, Leukocytosis, ... |
OMIM:615673 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Bradycardia, Increased circulating thyroglobulin level |
ORPHA:90673 |
| Chromosome Xq25 Duplication Syndrome |
|
Thick eyebrow, Hyperactivity, Sparse eyebrow, Epicanthus, Highly arched eyebrow |
OMIM:300979 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
| Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia, Congestive h... |
ORPHA:108 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Pulmonary arterial hypertension, Congestive heart failure |
OMIM:619751 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatinine concentration, Reticulocytosis, Pericarditis, Elevated circulatin... |
ORPHA:99826 |
| Gand Syndrome |
|
Blepharophimosis, Narrow palpebral fissure, Hyperactivity, Wide nasal bridge |
OMIM:615074 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hypokalemia, Leukocytosis, Schistocytosis, Myocardial infarcti... |
ORPHA:90038 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Absent eyebrow, Sparse eyelashes, Short eyelashes, Paroxysmal supraventricular tachycardia, Brady... |
OMIM:601375 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
| Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... |
ORPHA:507 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Upslanted palpebral fissure, Intracranial hemorrhage, Heart mur... |
ORPHA:163979 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Pig... |
ORPHA:96180 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... |
ORPHA:88 |
| Tularemia |
|
Leukocytosis, Tachycardia, Anemia, Thrombocytopenia, Conjunctivitis, Conjunctival hyperemia |
ORPHA:3392 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Yellow Fever |
|
Supraventricular arrhythmia, Hyperbilirubinemia, Hematemesis, Neutrophilia, Leukocytosis, Elevate... |
ORPHA:99829 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyopathy |
ORPHA:26792 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Neutrophilia, Hemothorax, Myocarditis, Pancytopenia,... |
ORPHA:99827 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
| Caroli Syndrome |
|
Melena, Hyperbilirubinemia, Hematemesis, Leukocytosis, Leukopenia, Conjunctival icterus, Conjugat... |
ORPHA:480520 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Portal hypertension, Hypercholesterole... |
OMIM:619662 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
| Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukocytosis, Leukopenia, Hyp... |
ORPHA:319213 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Steatorrhea, Refractor... |
OMIM:557000 |
| Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Short palpebral fissure, Upslanted palpebral fissure, Autoimmune thrombocytopenia,... |
OMIM:301069 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Epistaxis, Splenomegaly |
OMIM:211600 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutr... |
OMIM:251000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
| Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
| Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Peripheral axonal neuropathy, Hypocholesterolemia, Hypertrophic cardiomyopathy, W... |
OMIM:618810 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Neutropenia, Hyperhomocystinemia, Epicanthus, Cystathioninemia, Methylmalon... |
OMIM:277380 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Shock, Internal h... |
ORPHA:49566 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Polycythemia, Hypotension, Thrombocytosis,... |
ORPHA:88673 |
| Dengue Fever |
|
Cerebral hemorrhage, Hypoproteinemia, Leukopenia, Hypotension, Gastrointestinal hemorrhage, Throm... |
ORPHA:99828 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia, Portal hypert... |
ORPHA:210136 |
| Leigh Syndrome With Leukodystrophy |
|
Pigmentary retinopathy, Optic atrophy, Anemia, Hypertrophic cardiomyopathy, Ptosis |
ORPHA:255241 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... |
OMIM:259710 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Ptosis |
OMIM:188025 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis, Epi... |
OMIM:300367 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis,... |
OMIM:235400 |
| Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... |
ORPHA:448237 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hyponatremia, Th... |
ORPHA:83601 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158061 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cerebral hemorrhage, Leukocytosis, Congenital throm... |
OMIM:618886 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Hyperalaninemia, Increased serum pyruvate, Epicanthus, Optic atrophy |
OMIM:245349 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Reticulocytosis, Schistocytosis, Myocardial infarction, Elevated c... |
OMIM:274150 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral... |
ORPHA:505248 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Leukopenia, Thrombocytopenia, Hyponatremia, Hyperuricemia, Anemia, Pulmonary arte... |
OMIM:613845 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Congenital Erythropoietic Porphyria |
|
Ectropion, Splenomegaly, Increased erythrocyte protoporphyrin concentration, Anisocytosis, Leukop... |
ORPHA:79277 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Elevated circulating tiglylglycine concentration, Retinal degeneration, Hypertroph... |
OMIM:300438 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... |
OMIM:608836 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Hyperactivity, Sinus tachycardia, Splenomeg... |
ORPHA:525731 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
| Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Splenomegaly, Hepatosplenomegaly, Decreased... |
OMIM:278000 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Bradycardia |
|
