| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
| Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... |
OMIM:619271 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia |
OMIM:133180 |
| Lissencephaly 4 |
|
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly |
OMIM:614019 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... |
OMIM:607616 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... |
OMIM:603552 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria, Neonatal death |
OMIM:614870 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... |
OMIM:613101 |
| Band Heterotopia |
|
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Gray matter hetero... |
OMIM:600348 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia |
OMIM:615008 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Congenital Hydrocephalus |
|
Colpocephaly, Abnormal cortical gyration, Hydrocephalus, Ventriculomegaly, Lissencephaly |
ORPHA:2185 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:721 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... |
OMIM:155100 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
| Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... |
OMIM:300835 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C... |
OMIM:616050 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... |
OMIM:231200 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportio... |
OMIM:613011 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, La... |
OMIM:609637 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Polymicrogyria, Lateral ventricle dilatation |
OMIM:300982 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia |
OMIM:616435 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Pachygyria, Lissencephaly,... |
ORPHA:300573 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... |
ORPHA:101028 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... |
OMIM:267700 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Aicardi-Goutieres Syndrome 6 |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... |
OMIM:617443 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Lateral ventricle dilatation |
OMIM:618266 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive... |
OMIM:308240 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis, Decreased serum creatinine |
ORPHA:54057 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... |
ORPHA:158061 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Edema, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Cirrhosis, Portal hyp... |
OMIM:232500 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Thromboc... |
OMIM:601399 |
| Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Simplified gyral pattern, Death in infancy, Lateral ventricle dilatation |
OMIM:617668 |
| Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
| Slc35A1-Cdg |
|
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia |
OMIM:301080 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly,... |
ORPHA:507 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612924 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Death in childhood, Lateral ventricle dilatation, Retinal pigment epithelial mottling, Partial ag... |
OMIM:619517 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... |
ORPHA:848 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612926 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... |
ORPHA:86839 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Thrombocytopenia, Hyperammonemia, Anemia |
ORPHA:289916 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Anemia, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:618116 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria |
OMIM:618731 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Ventriculo... |
ORPHA:79243 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612925 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... |
OMIM:603553 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:88 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Pancytopenia,... |
OMIM:613845 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:610333 |
| Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:275555 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Thrombocytopenia, Refractory anemia, Leukopenia |
OMIM:231095 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Pancytopenia, Leukopenia |
OMIM:243500 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... |
OMIM:235400 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Degeneration of anterior horn cells, Lateral ventricle dilatation |
OMIM:607596 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... |
OMIM:617021 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Paroxysmal atrial fibrillation, Reduced left ventricular ... |
ORPHA:1677 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia |
OMIM:601709 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope... |
OMIM:153670 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Absence of alpha granul... |
OMIM:187900 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:231000 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Abnormal upper motor neuron morphology, Lateral ventricle dilatation |
OMIM:221770 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:615085 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... |
OMIM:278000 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Simplified gyral pattern, Ventriculomeg... |
OMIM:615219 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer cell co... |
ORPHA:158048 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytope... |
OMIM:618048 |
| Amed Syndrome, Digenic |
|
Thrombocytopenia, Leukopenia, Anemia, Acute myeloid leukemia |
OMIM:619151 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, C... |
OMIM:609053 |
| Babesiosis |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia, Splenomegaly |
ORPHA:108 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Dandy-Walker malformation, Lateral ventricle dilatation, Agenesis of corpus... |
OMIM:618736 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, B lymphocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia |
OMIM:150550 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Thrombocytopenia, Reticulocytosis, Splenomegaly, Anemia |
OMIM:611490 |
| Joubert Syndrome 3 |
|
Pigmentary retinopathy, Enlarged fossa interpeduncularis, Frontal polymicrogyria, Lateral ventric... |
OMIM:608629 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Eosinophilia, Thromb... |
OMIM:603554 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Colpocephaly, Polymicrogyria, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:620156 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced plate... |
OMIM:139090 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Thrombocytopenia, Hyperhomocystinemia, Hypomethioninemia, Elevated circul... |
OMIM:614857 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto... |
ORPHA:824 |
| Myh9-Related Disease |
|
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platele... |
ORPHA:182050 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lissencephaly, Simplified gyral pattern, Lateral ventricle dilatation |
ORPHA:284417 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Neonatal death |
OMIM:610015 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morphology, Anemia |
ORPHA:229717 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia |
OMIM:152700 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia |
ORPHA:210110 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Stormorken Syndrome |
|
Hypoplastic spleen, Asplenia, Anemia, Elevated circulating creatine kinase concentration, Thrombo... |
OMIM:185070 |
| Adams-Oliver Syndrome 2 |
|
Polymicrogyria, Lateral ventricle dilatation, Hydrocephalus |
OMIM:614219 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
OMIM:619955 |
| Atelis Syndrome 1 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:620184 |
| Specific Granule Deficiency 2 |
|
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle d... |
OMIM:616602 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Elevated circulating C-reactive protein c... |
OMIM:619644 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Methylmalonic Aciduria, Cblb Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... |
OMIM:251110 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Thrombocytopenia, Hyperglycinemia, Neutropenia |
OMIM:251000 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
| Propionic Acidemia |
|
Hyperammonemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, Neutropenia |
OMIM:606054 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616576 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Type II lissencephaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle dilatation, Ventr... |
OMIM:613154 |
| Pseudo-Torch Syndrome 2 |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Ventriculomegaly, Thromboc... |
OMIM:617397 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Increased circulat... |
ORPHA:540 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Death in childhood, Decreased circulating total IgM, Anemia, Hydrocephalus, Death in infancy, Dec... |
OMIM:612301 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Anemia, Neutropenia, Th... |
ORPHA:292 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
ORPHA:158029 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... |
ORPHA:100026 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... |
ORPHA:98850 |
| Cach Syndrome |
|
Hepatosplenomegaly, Dysgyria, Lateral ventricle dilatation |
ORPHA:135 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... |
OMIM:274150 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Perisylvian polymicrogyria, Spina bifida occulta, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:618291 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Hypoalbuminemia, Anemia, Elevated circulating creatinine concentration |
OMIM:608104 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Congenital thrombocytopenia, Leukocytosis, Anemia |
OMIM:618886 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Acute leukemia, Abnormal neutrophil ... |
ORPHA:3226 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Lateral ventricle dilatation |
OMIM:619278 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... |
ORPHA:101096 |
| Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia |
ORPHA:99828 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... |
OMIM:304790 |
| Immunodeficiency 10 |
|
Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:612783 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:381 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Polymicrogyria, Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:617751 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:398124 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:602200 |
| Congenital Rubella Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:290 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Agranulocytos... |
OMIM:301078 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Fetal Gaucher Disease |
|
Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia |
OMIM:605432 |
| Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, El... |
ORPHA:454836 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Hyperammonemia, Elevated circulating acylcarnitine concentration, Thrombocytopenia, Elevated crea... |
ORPHA:99901 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Pancytopenia |
OMIM:613987 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Megaloblastic anemia, Anemia, Cystathioninemia, Thrombocytopenia, Hyperho... |
OMIM:277380 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly, Increased mean corpuscular volume, Thrombocytopenia, Periventricu... |
ORPHA:261250 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Vitiligo, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
ORPHA:1855 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:259710 |
| Halperin-Birk Syndrome |
|
Death in childhood, Colpocephaly, Semilobar holoprosencephaly, Ventriculomegaly, Agenesis of corp... |
OMIM:618651 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly |
OMIM:614576 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:246400 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia |
ORPHA:47 |
| Mevalonic Aciduria |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Normocytic hypoplastic anemia, Elevated circulating cre... |
OMIM:610377 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... |
OMIM:251100 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Elevated circulating creatinine concentration |
ORPHA:90060 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly |
OMIM:617591 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... |
ORPHA:331206 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochromic anemia |
OMIM:618775 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Anemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentr... |
OMIM:619743 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618606 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Lateral ventricle dilatation |
OMIM:620075 |
| Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Absent platelet dense granules |
OMIM:614074 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Gliosis, Lateral ventricle dilatation |
OMIM:619847 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Thrombocytopenia, Pancytopenia, Hypocalcemia, Splenomegaly |
OMIM:259700 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Elevated circulating crea... |
ORPHA:206572 |
| Hereditary Folate Malabsorption |
|
Thrombocytopenia, Pancytopenia, Megaloblastic anemia, Eosinophilia |
ORPHA:90045 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventricle dilatation |
ORPHA:3078 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Generalized hypopigmentation, Hypochromic anemia, Abnormality of neutrophi... |
ORPHA:2720 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Simplified gyral pattern, Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle... |
OMIM:619244 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Edema, H... |
OMIM:212093 |
| Shwachman-Diamond Syndrome |
|
Leukopenia, Normocytic anemia, Aplastic anemia, Anemia, Steatorrhea, Leukemia, Chronic neutropeni... |
ORPHA:811 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Hyperlipidemia, Thrombocytopenia,... |
ORPHA:1830 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:230800 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hypoproteinemia, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet ... |
ORPHA:167 |
| Alg8-Cdg |
|
Thrombocytopenia, Hyponatremia, Anemia |
ORPHA:79325 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:520 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Colpocephaly, Brushfield spots, Polymicrogyria, Macrogyria, Death in adolesce... |
OMIM:614866 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Intermittent thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
| Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Steatorrhea, Reticulocytopenia, Hypoplastic anemia, Hype... |
OMIM:557000 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:606003 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Simplified gyral ... |
ORPHA:300570 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Steatorrhea, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Ac... |
OMIM:260400 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperammonemia, Leukopenia, Hyperglu... |
ORPHA:470 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia, Neutropenia |
ORPHA:391673 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase concentration |
OMIM:301056 |
| Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal... |
OMIM:214500 |
| Mirage Syndrome |
|
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Hyperkalemia, Thrombocytopenia, Hyponatremia |
OMIM:617053 |
| Tangier Disease |
|
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia |
ORPHA:31150 |
| Felty Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:47612 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Chronic neutropenia, Autoimmune thrombocyt... |
OMIM:614700 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Thrombocytopenia, Splen... |
OMIM:251880 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:613989 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia |
OMIM:617303 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Pachygyria, Lateral ventricle dilatation, Agyria |
ORPHA:2148 |
| Boutonneuse Fever |
|
Thrombocytopenia, Leukopenia |
ORPHA:83313 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus |
OMIM:612863 |
| Slc35A2-Cdg |
|
Hypopigmentation of the skin, Dandy-Walker malformation, Lateral ventricle dilatation |
ORPHA:356961 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell count, Impaired ADP-indu... |
OMIM:608233 |
| Cyclic Neutropenia |
|
Decreased eosinophil count, Thrombocytopenia, Lymphopenia, Cyclic neutropenia |
ORPHA:2686 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... |
OMIM:259720 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal lymphocyte count, Anemia, Ab... |
ORPHA:79124 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Elevated hepatic iron concentration, Thrombocytopenia, Anemia |
OMIM:614946 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, Abnormal T cell morphology |
OMIM:242900 |
| Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Anemia, Pigmentary retinopathy, Lymphopenia, Ventriculomegaly, Neutropenia |
OMIM:618460 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Prolidase Deficiency |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:170100 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Thromb... |
ORPHA:36234 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Colpocephaly, Agenesis of corpus callosum, Partial agenesis of the corpus callosum |
OMIM:620113 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Thrombocytopenia, Lateral ventricle dilatation, Anemia |
OMIM:611209 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:600901 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
| Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:905 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Meningocele, Occipital encephalocele, Lateral ventricle dilatation, Ventriculomegal... |
ORPHA:397715 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytopenia, Pancytopenia, Splenomegaly |
ORPHA:77259 |
| Lysinuric Protein Intolerance |
|
Hyperammonemia, Leukopenia, Hemophagocytosis, Anemia, Thrombocytopenia, Intraalveolar phospholipi... |
OMIM:222700 |
| Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... |
OMIM:617052 |
| Sepsis In Premature Infants |
|
Leukocytosis, Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Sp... |
ORPHA:90051 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Neutropenia |
ORPHA:508542 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:127550 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:169090 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis, Lateral ventricle dilatation |
OMIM:607485 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:227650 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Megaloblastic anemia, Cystathioninemia, Thrombocytopenia, Hyperhomocystin... |
OMIM:277400 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Thrombocytopenia, Pancytopenia, Leukopenia, Aplastic anemia |
OMIM:613990 |
| Immunodeficiency 40 |
|
Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Shwachman-Diamond Syndrome 2 |
|
Steatorrhea, Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... |
OMIM:612541 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Decreased circulating copper concentration, Splenomegaly, Thromboc... |
OMIM:300972 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Leukopenia |
ORPHA:93552 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Thrombocytopenia, Pancytopenia, Aplastic anemia |
OMIM:224230 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal erythrocyte en... |
ORPHA:447 |
| Noonan Syndrome 14 |
|
Lymphopenia, Lateral ventricle dilatation |
OMIM:619745 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Aicardi-Goutieres Syndrome 9 |
|
