| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Reti... |
ORPHA:673 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Irritability, Leukopenia, Athetosis, Neutropenia,... |
OMIM:229050 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention tremor |
OMIM:610539 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Paro... |
ORPHA:49827 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggre... |
OMIM:155100 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Cardiomyopathy, Neutrope... |
ORPHA:79312 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of... |
OMIM:614171 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Anemia |
ORPHA:289916 |
| Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder |
OMIM:615401 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Anorexia, Myocardial infarction, Splenomegaly, Congestive heart f... |
ORPHA:108 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:611490 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Thrombocytopenia |
OMIM:231000 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Leukopenia, ... |
ORPHA:27 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... |
ORPHA:398124 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocy... |
OMIM:243500 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... |
ORPHA:101028 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... |
OMIM:603909 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Aregenerative Anemia |
|
Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni... |
ORPHA:101096 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Inability to walk, Dilated cardiomyopathy, Right bundle branch block, Difficulty walking, Left ve... |
ORPHA:206559 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Optic at... |
OMIM:249270 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block, Steppage gait, Waddling gait |
OMIM:300695 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Right bundle branch block, Gait disturbance, ... |
OMIM:616479 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia |
OMIM:615750 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... |
ORPHA:507 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Preeclampsia |
|
Elevated diastolic blood pressure, Hypertension, Elevated systolic blood pressure, Abnormality of... |
ORPHA:275555 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia, Dysphagia |
OMIM:619751 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Portal hypertension, Thromboc... |
ORPHA:824 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose homeost... |
ORPHA:391673 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein... |
OMIM:603585 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Letha... |
OMIM:251000 |
| Rhabdoid Tumor |
|
Lymphadenopathy, Anemia, Irritability, Hypertension, Neoplasm of the liver, Internal hemorrhage, ... |
ORPHA:69077 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... |
ORPHA:563 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia |
OMIM:610333 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... |
ORPHA:3226 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ... |
ORPHA:3240 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Attention defi... |
OMIM:619151 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia |
ORPHA:858 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Muscle Filaminopathy |
|
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction, Gait disturbance |
ORPHA:171445 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Ataxia, Neutropenia |
OMIM:616949 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Anemia, Hypocalcemia, Optic atrophy from cranial nerve compression, Thrombocy... |
ORPHA:210110 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... |
ORPHA:229717 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Retinopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Tularemia |
|
Brain abscess, Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal... |
ORPHA:3392 |
| Stt3B-Cdg |
|
Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Jaundice, Hepa... |
ORPHA:905 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutrope... |
OMIM:606054 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis |
OMIM:618624 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Hypoglycemia, Aggressive behavior, Dysmetria, Cardiomyopathy, Ath... |
OMIM:617710 |
| Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... |
ORPHA:381 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Splenomegaly, Congestive heart failure, Jaundic... |
ORPHA:525731 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... |
ORPHA:3077 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... |
ORPHA:182050 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Irritability, Lethargy, Thrombocytopenia |
ORPHA:79242 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytope... |
ORPHA:277 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... |
ORPHA:98849 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:618858 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... |
ORPHA:210136 |
| Cog4-Cdg |
|
Ataxia, Hepatosplenomegaly, Irritability, Cirrhosis, Thrombocytopenia |
ORPHA:263501 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
| Aicardi-Goutieres Syndrome 5 |
|
Irritability, Thrombocytopenia |
OMIM:612952 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lethar... |
ORPHA:319218 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, L... |
ORPHA:520 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis, Cholestas... |
ORPHA:292 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrio... |
OMIM:115197 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopathy, Thromb... |
OMIM:222300 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... |
OMIM:619705 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Telangiectasia of the skin, Ataxia, Gait disturbance, Type II diabetes mellitu... |
ORPHA:100 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
| Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:620184 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Optic atrophy, Hepatosplenomegaly, Anemia, Thrombocyt... |
OMIM:259710 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Reduced C-peptide level, Elevated hemoglobin A1c |
OMIM:610582 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath... |
OMIM:212350 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocyto... |
OMIM:618775 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia |
ORPHA:290 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Right ventricular failure, Third he... |
ORPHA:1329 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Anemia, D... |
ORPHA:169105 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Int... |
ORPHA:99827 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... |
OMIM:618048 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Overlap Myositis |
|
Diabetes mellitus, Raynaud phenomenon, Leukopenia, Hypertension, Difficulty walking, Dysphagia, P... |
ORPHA:206572 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Loss of ambulation, Dysphagia |
ORPHA:254361 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... |
ORPHA:47612 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... |
OMIM:613280 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... |
OMIM:251100 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility |
OMIM:266265 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Congestive heart failure, Microvesicular hepatic steatosis, Dilated cardiomyopathy,... |
OMIM:611126 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Intention... |
OMIM:254900 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, ... |
ORPHA:77259 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration |
OMIM:301054 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Elevated circulating creatine kinase concentrat... |
OMIM:610377 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Ataxia, Inability to walk, Dysmetria, Right bundle branch block, Mitral ... |
OMIM:619576 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
| Scorpion Envenomation |
|
Restlessness, Bundle branch block, Tachycardia, Ataxia, Acute pancreatitis, Cardiac conduction ab... |
ORPHA:466677 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Neutrophilia, Diabetes mellitus, Leukocytosis, Leukopenia, Addictive alcohol use, Hypotens... |
ORPHA:36238 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... |
ORPHA:760 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Hyperactivity, First degree atrioventricular block, Dysphagia |
ORPHA:589821 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Tel... |
OMIM:606003 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume,... |
OMIM:127550 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Left bundle branch block, Glucose intolerance, Abnormality of the liv... |
OMIM:610131 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
| Alg8-Cdg |
|
Hyponatremia, Optic atrophy, Anemia, Retinopathy, Thrombocytopenia |
ORPHA:79325 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Thrombocytopenia, Depression |
ORPHA:83601 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypoglycemia, Congestive heart failure, Choreoathetosis, Leukopenia, Neutropenia... |
OMIM:616271 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly |
OMIM:620210 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis, Bone marrow ... |
OMIM:613989 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, I... |
OMIM:275350 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Thrombocytopenia |
OMIM:616577 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, Anemia, Hyper... |
OMIM:242900 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Anorexia, Thrombocytopenia... |
OMIM:557000 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... |
ORPHA:137675 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... |
ORPHA:169160 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia... |
OMIM:277380 |
| Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Mirage Syndrome |
|
Hypoglycemia, Anemia, Leukopenia, Intracranial hemorrhage, Hypoplastic spleen, Lymphopenia, Throm... |
OMIM:617053 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Inability to walk, Vasculitis, Cardiomyopathy, Prolonged neonatal jau... |
OMIM:225750 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune throm... |
OMIM:613179 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
| Legionnaires Disease |
|
Pericarditis, Ataxia, Anorexia, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Lymphadenopathy, ... |
ORPHA:549 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, D... |
ORPHA:99901 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Type II diabetes melli... |
OMIM:602668 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Bradycardia, Lethargy, Thrombocytopenia |
OMIM:617397 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Inability to walk, Anemia, Leukopenia, Macr... |
OMIM:617303 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Thrombocytopenia, Congestive heart failure, Hypertension, Decreased pr... |
ORPHA:1830 |
| Insulin-Resistance Syndrome Type B |
|
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
ORPHA:2298 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Optic atrophy, Th... |
OMIM:614576 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Thrombocytosis, Ataxia, Anorexia, Hypoglycemia, Leukocytosis, Hypertension, Agitati... |
ORPHA:134 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Difficu... |
ORPHA:572798 |
| Abcd Syndrome |
|
Polycythemia, Hypopigmentation of the fundus |
OMIM:600501 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... |
OMIM:608233 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Retinal vasculitis, Anemia |
OMIM:615758 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... |
OMIM:251880 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Rod-cone dystrophy, Thrombocytopenia |
ORPHA:96181 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Epistaxis, Thrombocytopenia, Splenomegaly, V... |
ORPHA:167 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Myocarditis, Splenomegaly,... |
ORPHA:829 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Sp... |
OMIM:259720 |
| Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Diffuse telangiectasia, Anemia, Prolonged neonatal jaundice, Thromboc... |
OMIM:170100 |
| Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb... |
OMIM:616433 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... |
ORPHA:100924 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Holocarboxylase Synthetase Deficiency |
|
Irritability, Lethargy, Thrombocytopenia |
OMIM:253270 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Sneddon Syndrome |
|
Hypertension, Lymphopenia, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... |
OMIM:617718 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukoc... |
OMIM:615688 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:3322 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Inability to walk, Right bundle branch block, Reduced left ventricular ejection fra... |
ORPHA:268 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic syst... |
ORPHA:464329 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
| Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
| Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Thrombocytopenia, Splenomegaly, Vasc... |
ORPHA:50918 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Splenomegaly, Leukocytosis, Jaundice, Anemia, Bradycardia, Hypotension... |
ORPHA:90051 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Leukopenia, Lethargy, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocyto... |
ORPHA:99826 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... |
OMIM:617052 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Neutropenia i... |
ORPHA:391487 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Shigellosis |
|
Hypoglycemia, Abscess, Anorexia, Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Hypovolemic... |
ORPHA:810 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Lig4 Syndrome |
|
Pancytopenia, Telangiectasia, Acute lymphoblastic leukemia, Type II diabetes mellitus, Thrombocyt... |
OMIM:606593 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Ano... |
ORPHA:324 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... |
ORPHA:276 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Hepatomegaly, Cardiac conduction abnorm... |
ORPHA:699 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Ataxia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... |
ORPHA:97214 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... |
ORPHA:443811 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Anorexia, Thrombocytopenia, Splenomegaly, Vasculitis, Myocarditis, He... |
ORPHA:781 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, ... |
ORPHA:93552 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cholest... |
OMIM:300972 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Leukopenia, Elevated circulating creatine kinase concentration, Thrombocy... |
OMIM:301056 |
| Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... |
ORPHA:94093 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Thrombocytopenia |
OMIM:616638 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Inability to walk, Acute lymphoblastic le... |
OMIM:208900 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Leukocytosis, Fulminant hepatitis, Subconjunctival hemorrhage, Leukopenia, Br... |
ORPHA:319213 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Lymph... |
ORPHA:160 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Dystonia |
OMIM:251290 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary stenosis, Vitreous hemorrhag... |
OMIM:620185 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Abscess, Myocarditis, Peritonitis, Increased circulating myelocyte count, Hep... |
ORPHA:36234 |
| Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Trem... |
OMIM:277900 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... |
OMIM:222700 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Tremor, Optic atrophy, Anemia, Exudative retinopathy, Dystonia, Thrombocy... |
OMIM:612199 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Thrombocytopenia |
OMIM:608013 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Raynaud phenomenon, Telangiectasia, Paratracheal lymphadenopathy, Leukope... |
OMIM:615934 |
| Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... |
OMIM:617099 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrho... |
ORPHA:974 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Melen... |
ORPHA:853 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Lung abscess, Anorexia, Hyp... |
ORPHA:1304 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Thrombocytopenia |
ORPHA:457351 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia |
ORPHA:1302 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Megaloblastic anemia, Optic atrophy,... |
ORPHA:79282 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Insulin resistance, Dilated cardiomyopathy, Dysmetri... |
OMIM:616541 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Inability to walk, Hepatosplenome... |
ORPHA:505248 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia |
ORPHA:261250 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Dysphagia, Anemia, Neutropenia, Polydipsia, Pa... |
ORPHA:537 |
| Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Insulin resistance, Pulmonary insufficiency |
OMIM:619322 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Ataxia, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, ... |
ORPHA:90062 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Anemia, Gait disturbance, Pulmonary arterial hy... |
ORPHA:77261 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Thrombocytopenia |
OMIM:208085 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Thrombocytopenia, Tongue thrusting, Self-injurious behavior, Stereotypical body ro... |
ORPHA:261323 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Myocardial infarction, Abnormality of neutrophils, Sudden cardiac de... |
ORPHA:36426 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia |
OMIM:230900 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin... |
ORPHA:2785 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Hematemesis, Splenomeg... |
OMIM:615846 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:1930 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Attention def... |
OMIM:619005 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
| Farber Disease |
|
Hepatosplenomegaly, Anemia, Macular degeneration, Cherry red spot of the macula, Thrombocytopenia |
ORPHA:333 |
| Rift Valley Fever |
|
Retinitis, Retinal hemorrhage, Macular edema, Anemia, Retinal vasculitis, Thrombocytopenia |
ORPHA:319251 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Hypoglycemia, Splenomegaly, Cardiomyopa... |
ORPHA:373 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Raynaud phenomenon, Depression, Lymphadenopathy, Leukopenia, Hypertension, Thro... |
ORPHA:536 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma... |
ORPHA:1572 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Vasculitis in the skin, Neutropenia, Lymphopenia |
OMIM:615816 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:603467 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Intracranial hemorrhage... |
ORPHA:340 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
| Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... |
ORPHA:500 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia |
OMIM:610733 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Lethargy, ST segment depression, Hypotension, Abnormal T-wave, Abn... |
ORPHA:466650 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neopl... |
ORPHA:77293 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Annular pancreas, Reticulocytopenia, Bone marrow hypocellularity,... |
OMIM:227646 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Optic atrophy, Increased mean platelet volume |
OMIM:616737 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:731 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
| Mogs-Cdg |
|
Dystonia, Optic atrophy, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl... |
ORPHA:274 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Decreased proportion of CD3-positive T... |
ORPHA:90362 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Abnormality of the spleen, Thro... |
ORPHA:2072 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Abnormalit... |
ORPHA:1775 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Retinal hemo... |
ORPHA:509 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Macronodular cirrhosis, Anemia, ... |
OMIM:620005 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Vasculitis, Biliary cirrhosis, D... |
ORPHA:289390 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thromb... |
ORPHA:79324 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Neonatal hypo... |
OMIM:619004 |
| Hardikar Syndrome |
|
Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Hypersplenism, Sple... |
OMIM:301068 |
| Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, ... |
ORPHA:99829 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ataxia, Splenomegaly, Micronodular cirrhosis, Truncal ataxia, Thrombocytopenia |
OMIM:301072 |
| Porphyria, Congenital Erythropoietic |
|
Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
| Tick-Borne Encephalitis |
|
Anorexia, Leukocytosis, Depression, Leukopenia, Dysphagia, Thrombocytopenia |
ORPHA:297 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Hyperactivity, Autoimmune hemolytic anemia, T lymphocytopenia, B lym... |
OMIM:251260 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Hepatomegaly |
OMIM:612852 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Hepatitis, Depression, Cirrho... |
ORPHA:355 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy |
OMIM:260920 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... |
ORPHA:3243 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Ogden Syndrome |
|
Premature atrial contractions, Polycythemia, Maternal diabetes, Microvesicular hepatic steatosis,... |
OMIM:300855 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Brain abscess, Myocarditis, Leukocytosi... |
ORPHA:544482 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:617506 |
| Jacobsen Syndrome |
|
Optic atrophy, Macular hypoplasia, Thrombocytopenia, Chorioretinal coloboma |
OMIM:147791 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Chronic lymphatic le... |
ORPHA:51 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Leopard Syndrome 1 |
|
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
| Dubowitz Syndrome |
|
Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Attention deficit hyperactivity... |
ORPHA:235 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of ... |
ORPHA:84064 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telang... |
OMIM:613471 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Elevated hepa... |
OMIM:619991 |
| Sarcoidosis |
|
Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Eosinophilia, Portal hyper... |
ORPHA:797 |
| Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Lymphopenia |
ORPHA:51636 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
| Fibular Hemimelia |
|
Difficulty walking, Thrombocytopenia |
ORPHA:93323 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Anemia, Leukopenia, Bone marrow hypocellularity, Ci... |
OMIM:305000 |
| Cornelia De Lange Syndrome 1 |
|
Optic disc coloboma, Optic atrophy, Thrombocytopenia |
OMIM:122470 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Optic atrophy, Increased mean platelet volume |
ORPHA:487796 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ... |
OMIM:619525 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen, Pulmonic stenosis |
OMIM:601186 |
| Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Myocardial infarction, Leukocytosis, Depression, H... |
ORPHA:96253 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Impaired glucose tolerance, Microcytic anemia, Splenomegaly, Congestive heart failu... |
OMIM:256040 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Abnormality of thrombocytes, Abnormality of the... |
ORPHA:567 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Anemia, Hypokalemia, Hypophosphatemia, Hype... |
ORPHA:534 |
| Jacobsen Syndrome |
|
Annular pancreas, Bone marrow hypocellularity, Attention deficit hyperactivity disorder, Aortic v... |
ORPHA:2308 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia |
ORPHA:79078 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leukopenia, Abnormality of the live... |
ORPHA:84 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:617403 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Ataxia, Cerebral hemorrhage, Gait disturbance, Dysphagia, Loss of ambulatio... |
ORPHA:666 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose tolerance, Anorexia, Myocardial in... |
ORPHA:99889 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617402 |
| Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
| Digeorge Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymus, Attention d... |
OMIM:188400 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, ... |
OMIM:163950 |
