Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Trimethylaminuria |
|
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Depression |
OMIM:602079 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Hypospadias, Prolonged QT interval, Noncompaction cardiomyopathy, Nonprog... |
OMIM:610198 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Cryptorchidism, Anxiety |
OMIM:617796 |
Refractory Anemia |
|
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... |
ORPHA:98826 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Ataxia, Pancyt... |
OMIM:159550 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Ambiguous genitalia |
OMIM:209970 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... |
ORPHA:398124 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp... |
OMIM:615234 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Familial Pseudohyperkalemia |
|
Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
Folate Malabsorption, Hereditary |
|
Athetosis, Neutropenia, Leukopenia, Ataxia, Irritability, Thrombocytopenia, Folate-responsive meg... |
OMIM:229050 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... |
ORPHA:90647 |
Glutathione Synthetase Deficiency |
|
Ataxia, Hemolytic anemia, Neutropenia |
OMIM:266130 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia, Arrhythmia |
OMIM:616949 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension |
OMIM:166990 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Sebastian syndrome |
|
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... |
OMIM:605249 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis |
OMIM:610181 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis |
OMIM:616738 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia, Dystonia |
OMIM:619302 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Whim Syndrome 1 |
|
Neutropenia, Abnormal morphology of female internal genitalia, Abnormality of female external gen... |
OMIM:193670 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Hypertension |
OMIM:189800 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Abnormal erythro... |
ORPHA:98870 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... |
OMIM:155100 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Hemochromatosis, Type 3 |
|
Neutropenia, Hypogonadotropic hypogonadism, Anemia, Cardiomyopathy, Lymphopenia |
OMIM:604250 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hypertension, Neutropenia, Increased mean corpuscular volume, Pancytopenia, Le... |
ORPHA:2169 |
Barth Syndrome |
|
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy, Neutropenia, Congestive he... |
OMIM:302060 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
Slc35A1-Cdg |
|
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia |
ORPHA:238459 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... |
OMIM:617182 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Acute myeloid leukemia, Thrombocytopenia, Attention deficit hyperactivity dis... |
OMIM:619151 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Neutropenia, Anemia, Cardiomyopathy, Splenomegaly, Thrombocytopenia, Lethargy |
ORPHA:79312 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Dystonia, Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Lethargy |
OMIM:277410 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:289916 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorr... |
ORPHA:88 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... |
OMIM:612561 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Laryngeal dystonia, Irritability, Anxiety, Abnorma... |
ORPHA:36913 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia |
ORPHA:295 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Emotional labilit... |
ORPHA:101096 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Neutropenia, Bradycardia |
OMIM:617248 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... |
OMIM:150550 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Epistaxis, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Atax... |
OMIM:603585 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Aplastic an... |
OMIM:308240 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Acute myeloid l... |
ORPHA:86839 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Cryptorchidism, Neutropenia, Broad-based gait |
OMIM:618067 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia |
ORPHA:231111 |
Malaria |
|
Thrombocytopenia, Anemia, Gait imbalance |
ORPHA:673 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Neutropenia, Pulmonary arterial hypertension, Anemia, Thrombocytopenia, Cryptorchidism, Lethargy |
OMIM:614857 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Dystonia, Prolonged QT interval, Hypochromic microcytic anemia, Ataxia, B... |
ORPHA:66634 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Epistaxis |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Epistaxis |
OMIM:613554 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Ataxia, Irritability, Reticulocytopenia, Pancytopenia, Lethargy |
OMIM:275350 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... |
OMIM:619271 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Hypertension, Abnormal platelet aggregation, Raynaud phenomenon |
ORPHA:401945 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart failure, Th... |
ORPHA:49827 |
Evans Syndrome |
|
Syncope, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune thrombocytop... |
ORPHA:1959 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, Syncope, Hypertension, ST segment depression, Prolonged QTc in... |
ORPHA:90065 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia, Lethargy |
OMIM:611590 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenome... |
ORPHA:848 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Hypertension, Arrhythmia, Sideroblastic anemia |
OMIM:617021 |
Aicardi-Goutieres Syndrome 7 |
|
Dystonia, Splenomegaly, Vasculitis, Irritability, Thrombocytopenia |
OMIM:615846 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval, Increased circulating troponin I concentration |
OMIM:619040 |
Blackfan-Diamond Anemia |
|
Hypospadias, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased ... |
ORPHA:124 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Laryngeal dystonia |
ORPHA:94090 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Irritability, Thrombocytopenia |
OMIM:246400 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Genital ulcers, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hype... |
ORPHA:3077 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia, Decreased testicular size |
OMIM:601815 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure |
ORPHA:141179 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymus, Pulmonary a... |
OMIM:612541 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia, Depression |
OMIM:231000 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Isovaleric Acidemia |
|
Lethargy, Leukopenia, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage |
OMIM:243500 |
Babesiosis |
|
Leukopenia, Splenomegaly, Myocardial infarction, Congestive heart failure, Thrombocytopenia, Hemo... |
ORPHA:108 |
Congenital Enterovirus Infection |
|
Myocarditis, Leukocytosis, Neutropenia, Leukopenia, Anemia, Cardiomyopathy, Abnormal macrophage m... |
ORPHA:292 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Laryngeal dystonia, Irritability, Anxiety, Depression |
ORPHA:94089 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia... |
ORPHA:261250 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Ataxia, Thrombocy... |
OMIM:249270 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia, Difficulty walking |
OMIM:251900 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Anemia, Cardiomyopathy, Ataxia, Thrombocytopenia, Lethargy |
ORPHA:27 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Specific Granule Deficiency 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules |
OMIM:617475 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism |
OMIM:194350 |
Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia, Micropenis, Cryptorchidism |
OMIM:615597 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Epistaxis, Decreased platelet glycopr... |
OMIM:173470 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... |
OMIM:619220 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Hypertension, Neutropenia, Anemia, Cerebral ischemia, Waddling gait, ... |
OMIM:242900 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Neutropenia, Bradycardia, Thrombocytopenia, Hypotension, Lethargy |
ORPHA:391673 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure |
ORPHA:141184 |
Retinal Venous Beading |
|
Retinal neovascularization, Vitreous hemorrhage, Neutropenia |
OMIM:180080 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Arrh... |
ORPHA:54057 |
Propionic Acidemia |
|
Dystonia, Neutropenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Pancytopenia, Thrombocytope... |
OMIM:606054 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Dystonia, Anisocytosis, Irritability, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, ... |
OMIM:618278 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Azoospermia, Anemia, Hypogonadism, Hepatosplenomegaly, Dysplastic erythropoe... |
ORPHA:300298 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Abnormal vagina morphology, Anemia |
ORPHA:2123 |
Transaldolase Deficiency |
|
Telangiectasia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the clitoris |
ORPHA:101028 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Epistaxis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... |
OMIM:300367 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Micropenis |
ORPHA:75858 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Polycystic ovaries, Elevated systolic blood pres... |
ORPHA:275555 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Gait a... |
ORPHA:572 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Rett Syndrome |
|
Dystonia, Abnormal T-wave, Prolonged QTc interval, Truncal ataxia, Gait ataxia, Gait apraxia |
OMIM:312750 |
Chediak-Higashi Syndrome |
|
Gait disturbance, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, An... |
OMIM:214500 |
Bernard-Soulier Syndrome |
|
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant p... |
OMIM:231200 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Dystonia, Gait disturbance, Ventricular tachycardia, Torsade de poin... |
OMIM:616878 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Palpitations,... |
OMIM:170390 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Cerebral vasculitis, Thrombocytopenia, Anxiety, Depression |
ORPHA:83601 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Neutropenia |
OMIM:600351 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Ataxia |
OMIM:613839 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly |
OMIM:610539 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Rhabdoid Tumor |
|
Hypertension, Anemia, Irritability, Thrombocytopenia, Internal hemorrhage |
ORPHA:69077 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... |
ORPHA:248111 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia |
OMIM:601495 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Brain abscess, Ventricular arrhythmia, I... |
ORPHA:97214 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Lethargy |
OMIM:251110 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Abnormal alpha granule content... |
OMIM:601399 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Pulmonary arterial hypertension, Persistence of hemoglobin F... |
ORPHA:231222 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Vasculitis |
OMIM:617718 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Ataxia |
OMIM:274240 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Frontotemporal dementia, Dementia, Amyotrophic lateral sclerosis, Memory impairment |
OMIM:619132 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... |
ORPHA:26793 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Familial Hyperaldosteronism Type Iii |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, recurrent epistaxis, My... |
ORPHA:182050 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Epistaxis, Anemia, Pancytopenia, Thrombocytopenia, Diffuse... |
ORPHA:520 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Anemia, Pancytopenia, Thrombocytopenia, Lethargy |
OMIM:251100 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Systemic Lupus Erythematosus |
|
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia |
OMIM:152700 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Irritability |
OMIM:612952 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Neutropenia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Lethargy |
OMIM:277380 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis |
OMIM:601709 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Atrial fibrillation, Acanthocytosis, Cardiomyopathy, Hepatosplenomegaly, ... |
OMIM:300842 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly,... |
ORPHA:231226 |
Noonan Syndrome 12 |
|
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Anemia, Splenomegaly, Ataxia, Abnormal T cell subset distribution, Pancytopenia, Thr... |
ORPHA:158048 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Gait ataxia |
OMIM:254900 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
Felty Syndrome |
|
Neutropenia, Pericarditis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:47612 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Ataxia, T... |
ORPHA:466650 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persist... |
ORPHA:231214 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Thrombocytopenia, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:3002 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... |
ORPHA:508542 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Splenomegaly |
OMIM:613327 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, ... |
ORPHA:229717 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Lig4 Syndrome |
|
Telangiectasia, Micropenis, Pancytopenia, Thrombocytopenia, Cryptorchidism |
OMIM:606593 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Euphoria, Ataxia, C... |
ORPHA:31826 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Epistaxis, Anemia, Tachycardia, Neutrophilia, Thrombocytopenia, Hypoten... |
ORPHA:91547 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Dengue Fever |
|
Cerebral hemorrhage, Leukopenia, Epistaxis, Gastrointestinal hemorrhage, Thrombocytopenia, Hypote... |
ORPHA:99828 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616576 |
Lichtenstein Syndrome |
|
Neutropenia |
OMIM:246550 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hypertension, Atrial fibrillation, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:525731 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia, Diffuse ... |
OMIM:616050 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dystonia, Prolonged QT interval, Ataxia, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... |
ORPHA:98849 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Hyperactivity, Irritability, Lymphopenia, Premature ovarian insufficiency |
ORPHA:391307 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloproliferative disorder,... |
ORPHA:3226 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... |
ORPHA:98818 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Irritability, Ataxia, Lethargy |
ORPHA:79242 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Pulmonary arterial hyperten... |
ORPHA:1830 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Neutropenia, Recurrent cutaneous abscess formation |
ORPHA:47 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... |
OMIM:613011 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... |
OMIM:600901 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Personality disorder |
ORPHA:2382 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia |
ORPHA:507 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... |
OMIM:227650 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy, Lethargy |
ORPHA:71212 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy, Leukopenia, Cardiomyopathy, Thrombocytopenia, Cerebellar hemorrhage |
OMIM:251000 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Abnormal platelet function, Hypoplasia of the thymus, Chronic leukemia, Recurrent in... |
ORPHA:906 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Co... |
OMIM:617303 |
Wilson Disease |
|
Aggressive behavior, Anemia, Splenomegaly, Hypersexuality, Thrombocytopenia, Depression, Difficul... |
ORPHA:905 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Stt3B-Cdg |
|
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism |
ORPHA:370924 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Laryngeal dystonia, Irritability, Hypergonadotropic hypogonadism, Anxiety,... |
ORPHA:79444 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Dystonia, Hypospadias, Neutropenia, Ataxia, Arrhythmia |
OMIM:615471 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Aggressive behavior, Anemia, Emotional blunting, ... |
ORPHA:86309 |
Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Tachycardia, Thrombocytopenia, Cutaneous abscess |
ORPHA:3392 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Anxiety, Neutrophilia |
OMIM:266265 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Ataxia, Thrombocy... |
OMIM:222300 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Pseudohypoparathyroidism Type 1A |
|
Hypertension, Prolonged QT interval, Abnormal platelet function, Laryngeal dystonia, Irritability... |
ORPHA:79443 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Thrombocytopenia, Bradycardia, Lethargy |
OMIM:617397 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Epistaxis, Imp... |
OMIM:139090 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Hyperactivity, Autoimmu... |
ORPHA:760 |
Gaucher Disease, Type I |
|
Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertension, Splenomeg... |
OMIM:230800 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia, Epistaxis |
OMIM:273900 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Anemia, Tachycardia, Bradycardia, Splenomegaly, Thrombocytopenia, Hypo... |
ORPHA:90051 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Iron deficiency anemia, ST seg... |
ORPHA:358 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia |
OMIM:618048 |
Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... |
OMIM:608233 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Megaloblastic anemia, Neutropenia, Lethargy |
ORPHA:79284 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Gait disturbance, Neutropenia, Thrombocytopenia, Abnorma... |
ORPHA:167 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... |
ORPHA:485350 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia |
OMIM:612926 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder, Cryptorchidism |
OMIM:614294 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:617443 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Vasculitis in the skin, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism |
DECIPHER:39 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
Gitelman Syndrome |
|
Prolonged QT interval, Palpitations, Ventricular tachycardia, Ataxia, Hypotension |
OMIM:263800 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:230900 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagoc... |
OMIM:619644 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Leukopenia, Urethral stricture, Pancytopenia, Thrombocytopenia, Aplastic ... |
OMIM:613989 |
Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
ORPHA:158029 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... |
OMIM:227645 |
Stormorken Syndrome |
|
Asplenia, Epistaxis, Anemia, Howell-Jolly bodies, Thrombocytopenia |
OMIM:185070 |
Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... |
OMIM:614700 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... |
ORPHA:449285 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Anemia, Congenital thrombocytopenia |
OMIM:618886 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
ORPHA:540 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Joint hemorrhage, Epistaxis, Impaired platelet aggregation |
OMIM:277480 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... |
ORPHA:75565 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Cerebr... |
OMIM:613179 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... |
ORPHA:100026 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Cryptorchidism, Anemia |
OMIM:608104 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Leukemia, Anemia, Micropenis, Reticulocytopenia, Cryptorchidism, Hypergonadotropic h... |
OMIM:227646 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:308230 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Cohen Syndrome |
|
Neutropenia, Leukopenia |
OMIM:216550 |
Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly, Irritability, Ataxia |
ORPHA:263501 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia |
ORPHA:1237 |
17Q24.2 Microdeletion Syndrome |
|
Mood swings, Prolonged QT interval, Aggressive behavior, Pulmonic stenosis, Anxiety |
ORPHA:529962 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Irritability, Lethargy |
OMIM:253270 |
Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology, Neutropenia, Anemia, Gastrointestinal hemorrhage, Abnormality of the ... |
ORPHA:537 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
Congenital Disorder Of Glycosylation, Type Iig |