| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... |
OMIM:619130 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... |
OMIM:205950 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia |
OMIM:133180 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... |
OMIM:620481 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Thrombocytopenia 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:620478 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia |
OMIM:124900 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia |
OMIM:616871 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... |
OMIM:173590 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... |
OMIM:300835 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:618462 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia |
OMIM:615285 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, In... |
OMIM:607616 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Anemia, Leukemia, Neutropenia |
OMIM:614082 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula... |
OMIM:603552 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
OMIM:206200 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,... |
ORPHA:90064 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... |
ORPHA:766 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegal... |
OMIM:613101 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Pulmonary hemorrhage, Monoc... |
OMIM:619644 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... |
OMIM:155100 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... |
OMIM:613673 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia |
OMIM:300367 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia |
OMIM:616435 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism |
OMIM:610539 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... |
ORPHA:848 |
| Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi... |
OMIM:210250 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... |
OMIM:613011 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... |
OMIM:301083 |
| Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retino... |
OMIM:520000 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp... |
OMIM:616050 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia |
OMIM:617182 |
| Transaldolase Deficiency |
|
Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concentration, Th... |
ORPHA:101028 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Retinal thinning, Hyperglycemia, Optic disc pallor |
OMIM:618970 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... |
OMIM:226990 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612924 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... |
OMIM:617443 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612926 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD8-positive T cells, ... |
OMIM:619802 |
| Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis |
ORPHA:54057 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... |
ORPHA:158057 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Spherocytosis, Type 5 |
|
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... |
OMIM:612690 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Leishmaniasis |
|
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,... |
ORPHA:507 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:301080 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... |
OMIM:308240 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary arterial hype... |
OMIM:612541 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... |
OMIM:616959 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612925 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly, Autoimmune t... |
OMIM:620565 |
| Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... |
OMIM:620603 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia |
ORPHA:27 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... |
ORPHA:231111 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... |
OMIM:153670 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni... |
OMIM:617021 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce... |
ORPHA:90065 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia |
OMIM:617970 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... |
OMIM:267700 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... |
OMIM:187900 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:618986 |
| Amed Syndrome, Digenic |
|
Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia |
OMIM:619151 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Reduced haptoglobin level, Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... |
OMIM:301110 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentra... |
ORPHA:158061 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia,... |
OMIM:613845 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... |
ORPHA:824 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia |
OMIM:222100 |
| Relapsing Fever |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... |
ORPHA:91547 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... |
ORPHA:232 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Bone spicule pigmentation of the retina, Polyphagia, Attenuation of retinal blood ves... |
OMIM:615986 |
| Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia |
OMIM:610333 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Babesiosis |
|
Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
| Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... |
OMIM:603554 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia |
OMIM:152700 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Isolated Agammaglobulinemia |
|
Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia |
ORPHA:229717 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:603909 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Leukopenia, Pancytopenia |
OMIM:243500 |
| Stormorken Syndrome |
|
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl... |
OMIM:185070 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia |
OMIM:150550 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... |
ORPHA:100026 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc... |
OMIM:614857 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Facial telangiectasia, M... |
OMIM:620141 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... |
OMIM:235400 |
| Atelis Syndrome 1 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:620184 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia |
OMIM:617475 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... |
OMIM:603553 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Decre... |
OMIM:618048 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... |
OMIM:601399 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... |
OMIM:304790 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... |
OMIM:274150 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c |
OMIM:610582 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp... |
OMIM:617600 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt... |
OMIM:251110 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia |
ORPHA:3240 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Fetal Cytomegalovirus Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia |
ORPHA:294 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... |
ORPHA:101096 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:606176 |
| Tafro Syndrome |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... |
ORPHA:457077 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Propionic Acidemia |
|
Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, Neutropenia |
OMIM:606054 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... |
ORPHA:98850 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia |
ORPHA:398124 |
| Hepatoportal Sclerosis |
|
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... |
ORPHA:64743 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... |
OMIM:169400 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia |
OMIM:608104 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Hyperinsulinemia, Maternal diabetes, Hypertension, Hyperglycemia, Type II d... |
OMIM:604367 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... |
ORPHA:158048 |
| Congenital Enterovirus Infection |
|
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... |
ORPHA:292 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis |
ORPHA:90060 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Mody |
|
Neonatal hypoglycemia, Hypoinsulinemia, Retinopathy, Glycosuria, Hyperglycemia, Transient neonata... |
ORPHA:552 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Anemia, Lymphopenia |
OMIM:620365 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... |
OMIM:301078 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Increased LDL cholesterol ... |
OMIM:278000 |
| Congenital Rubella Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:290 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... |
ORPHA:231222 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... |
ORPHA:3226 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Pancytopenia |
OMIM:613987 |
| Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Cog4-Cdg |
|
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly |
ORPHA:263501 |
| Dengue Fever |
|
Thrombocytopenia, Hypoproteinemia, Leukopenia |
ORPHA:99828 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259710 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... |
ORPHA:540 |
| Tularemia |
|
Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:3392 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:609812 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:85212 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, ... |
OMIM:251100 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochromic anemia |
OMIM:618775 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Thrombocytopenia, Hyperglycinemia, Neutropenia |
OMIM:251000 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Anemia, Hyperhomocystinemia, Pancytopenia, Megaloblastic anemia, Cystathi... |
OMIM:277380 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Splenomegaly, Abnormality... |
ORPHA:381 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:47 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocyt... |
OMIM:610377 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Gaucher Disease, Type I |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism |
OMIM:230800 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo... |
ORPHA:99901 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Agitation, Hypertension, Leukocytosis, Hypotension, Hyperglycemia, Hypoglycemia, Thromb... |
ORPHA:134 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia |
OMIM:313900 |
| Blue Rubber Bleb Nevus |
|
Thrombocytopenia, Iron deficiency anemia |
OMIM:112200 |
| Necrotizing Enterocolitis |
|
Shock, Abnormal glucose homeostasis, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Hy... |
ORPHA:391673 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia |
ORPHA:903 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation |
OMIM:614074 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Hypertension, Hyperglycemia, Type II diabetes mellitus, Hypercholesterolemi... |
OMIM:615812 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Hypomagnese... |
OMIM:619743 |
| Gaucher Disease Type 1 |
|
Decreased HDL cholesterol concentration, Anemia, Pancytopenia, Splenic infarction, Splenic ruptur... |
ORPHA:77259 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Hyperactivity, Hypertension, Recurrent hand flapping, Motor stereotypy,... |
ORPHA:449291 |
| Acute Promyelocytic Leukemia |
|
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Splenomegaly, Thrombocytopenia, Elevated circulating creatine kinase concentration, Pancytopenia |
OMIM:614576 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia |
OMIM:222300 |
| Prolidase Deficiency |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:170100 |
| Transaldolase Deficiency |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:606003 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... |
ORPHA:231226 |
| Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... |
ORPHA:231214 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Elevated circulating crea... |
ORPHA:206572 |
| Mirage Syndrome |
|
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia |
OMIM:617053 |
| Felty Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:47612 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Boutonneuse Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:83313 |
| Chediak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th... |
OMIM:214500 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... |
OMIM:614700 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... |
ORPHA:90038 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Elevated hepatic iron concentration, Thrombocytopenia, Anemia |
OMIM:614946 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Increased serum bile acid concentration, Macrocytic a... |
ORPHA:811 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulocytopenia, Sid... |
OMIM:557000 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia |
OMIM:620475 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... |
ORPHA:79124 |
| Sickle Cell Disease |
|
Hypertension, Splenic infarction, Leukocytosis, Retinopathy, Target cells, Splenomegaly, Increase... |
OMIM:603903 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613990 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:169090 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:613989 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Anemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Neutropenia |
OMIM:617303 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:600901 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... |
OMIM:259720 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... |
OMIM:127550 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... |
ORPHA:1830 |
| Wilson Disease |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:905 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase concentration |
OMIM:301056 |
| Castleman Disease |
|
Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration, Decreased mean c... |
ORPHA:160 |
| Kasabach-Merritt Phenomenon |
|
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... |
ORPHA:2330 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... |
ORPHA:167 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:508542 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
OMIM:242900 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... |
ORPHA:447 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia |
ORPHA:2686 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:227650 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... |
OMIM:608233 |
| Immunodeficiency 22 |
|
Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia |
OMIM:615758 |
| Lysinuric Protein Intolerance |
|
Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia, Leukopenia, Sp... |
OMIM:222700 |
| Acute Radiation Syndrome |
|
Thrombocytopenia, Granulocytopenia, Lymphopenia |
ORPHA:454831 |
| Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Immunodeficiency 40 |
|
Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... |
OMIM:251880 |
| Sepsis In Premature Infants |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp... |
ORPHA:90051 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le... |
ORPHA:94093 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Neuroblastoma |
|
Thrombocytopenia, Increased circulating ferritin concentration, Anemia |
ORPHA:635 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... |
ORPHA:36234 |
| Pediatric Systemic Lupus Erythematosus |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia |
ORPHA:93552 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Tangier Disease |
|
Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholesterolemia |
ORPHA:31150 |
| Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... |
ORPHA:470 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
| Congenital Erythropoietic Porphyria |
|
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, U... |
ORPHA:79277 |
| Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Leukopenia, Lymphopenia |
ORPHA:319218 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:224230 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia |
OMIM:308230 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:227645 |
| Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Leukocytosis |
ORPHA:676 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
| Diamond-Blackfan Anemia 21 |
|
Thrombocytopenia, Anemia, Erythroid hypoplasia |
OMIM:620072 |
| Lead Poisoning |
|
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... |
ORPHA:330015 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Immunodeficiency 47 |
|
Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Leukopenia, Sple... |
OMIM:300972 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:616271 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
| Shigellosis |
|
Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,... |
ORPHA:810 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Fanconi Anemia, Complementation Group F |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:603467 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
| Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Leukopenia... |
ORPHA:319213 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:230900 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia, Hypomethioni... |
OMIM:277400 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:608013 |
| Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
ORPHA:464329 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:620654 |
| Porphyria, Congenital Erythropoietic |
|
Elevated circulating uroporphyrin concentration, Thrombocytopenia, Splenomegaly, Reduced erythroc... |
OMIM:263700 |
| Adams-Oliver Syndrome |
|
Thrombocytopenia, Leukopenia |
ORPHA:974 |
| Lathosterolosis |
|
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology |
ORPHA:46059 |
| Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:616737 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concen... |
OMIM:619573 |
| Farber Disease |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:333 |
| Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:261323 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitole... |
ORPHA:79282 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:505248 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:227646 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Leukopenia, Thrombocytopenia, Abno... |
ORPHA:2298 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Elliptocy... |
ORPHA:2785 |
| Wilson Disease |
|
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro... |
OMIM:277900 |
| Pearson Syndrome |
|
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Hypoplastic sp... |
ORPHA:699 |
| Congenital Syphilis |
|
Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
ORPHA:499009 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentratio... |
OMIM:615846 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Neutrophilia in presence of infection, Hyperamylasemia, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
| Caroli Syndrome |
|
Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbilirubinemia, Hy... |
ORPHA:480520 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Increased ... |
OMIM:620376 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hyperglycinemia, Thrombocytopenia |
OMIM:620423 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Down Syndrome |
|
Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia |
ORPHA:870 |
| Mogs-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia |
OMIM:620185 |
| Gaucher Disease Type 3 |
|
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia |
ORPHA:77261 |
| Stevens-Johnson Syndrome |
|
Thrombocytopenia, Abnormality of neutrophils, Anemia |
ORPHA:36426 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:391487 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Q Fever |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
ORPHA:781 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Anemia |
OMIM:612199 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia |
ORPHA:163979 |
| Tick-Borne Encephalitis |
|
Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:297 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... |
ORPHA:3260 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Dubowitz Syndrome |
|
Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia |
ORPHA:235 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:77293 |
| Kikuchi-Fujimoto Disease |
|
Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopenia, Splenom... |
ORPHA:50918 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia |
OMIM:620005 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
| Dyskeratosis Congenita |
|
Thrombocytopenia, Abnormality of neutrophils, Anemia, Splenomegaly |
ORPHA:1775 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia |
ORPHA:544482 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia |
OMIM:251260 |
| Brucellosis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Splenome... |
ORPHA:1304 |
| Gaucher Disease |
|
Decreased HDL cholesterol concentration, Anemia, Elevated circulating C-reactive protein concentr... |
ORPHA:355 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Anemia, Leukocytosis, Thrombocytopenia, Hyperphosphatemia, Elevated circulating cre... |
ORPHA:340 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia |
ORPHA:647 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:466650 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
| Liver Disease, Severe Congenital |
|
Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalaninemia, Hypona... |
OMIM:619991 |
| Yellow Fever |
|
Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophili... |
ORPHA:99829 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hypercholesterolemia, Hypo... |
ORPHA:534 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia |
OMIM:274000 |
| Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
ORPHA:487796 |
| Dyskeratosis Congenita, X-Linked |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia |
OMIM:305000 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Normochromic anemia, Decreased proportion of CD4-positive helper T cells, Leuk... |
ORPHA:289390 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia |
OMIM:300855 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... |
OMIM:256040 |
| Jacobsen Syndrome |
|
Thrombocytopenia |
OMIM:147791 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia |
ORPHA:2072 |
| Fanconi Anemia |
|
Anemia, Thrombocytopenia, Leukopenia, Pyridoxine-responsive sideroblastic anemia |
ORPHA:84 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophilia, Leu... |
ORPHA:99827 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Increased serum bile acid concentration, Hyponatremia, Thrombocytopenia, Splenomegaly, Hepatosple... |
ORPHA:731 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia |
OMIM:619525 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia |
ORPHA:536 |
| 22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:567 |
| Jacobsen Syndrome |
|
Thrombocytopenia |
ORPHA:2308 |
| Hardikar Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism |
OMIM:301068 |
| Sarcoidosis |
|
Anemia, Increased T cell count, Leukopenia, Hypercalcemia, Thrombocytopenia, Eosinophilia, Hemoly... |
ORPHA:797 |
| Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
| Alkaptonuria |
|
Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Acute Liver Failure |
|
Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
| Leptospirosis |
|
Thrombocytopenia, Hyperproteinemia |
ORPHA:509 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia |
ORPHA:51 |
| Digeorge Syndrome |
|
Anemia, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly |
OMIM:188400 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
| Spinocerebellar Ataxia 12 |
|
|
OMIM:604326 |
| Spinocerebellar Ataxia Type 12 |
|
|
ORPHA:98762 |
