Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:273800 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, G... |
OMIM:155100 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... |
OMIM:601399 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... |
OMIM:139090 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Bernard-Soulier Syndrome |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... |
OMIM:231200 |
Bleeding Disorder, Platelet-Type, 17 |
|
Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph... |
OMIM:187900 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Red... |
OMIM:314050 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:615715 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Acute Myelomonocytic Leukemia |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Giant platelets, Anemia, Stomatocytosis, Episodic hemolytic anemia... |
OMIM:210250 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Leukemia, Thrombocytopenia, Neutropenia |
OMIM:614082 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Slc35A1-Cdg |
|
Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Thrombocytopenia 5 |
|
Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, Neutropenia,... |
OMIM:616216 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... |
OMIM:159550 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:616738 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp... |
OMIM:608233 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... |
OMIM:613101 |
Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity, ... |
OMIM:618116 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia |
OMIM:603552 |
Myh9-Related Disease |
|
Prolonged bleeding time, Increased mean platelet volume, Giant platelets, Neutrophil inclusion bo... |
ORPHA:182050 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Splenomegaly, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Hypoplastic anemia, Leukemia, Thrombocytopenia |
OMIM:194350 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... |
OMIM:613011 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Anemia |
OMIM:619151 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... |
OMIM:226990 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, B... |
ORPHA:3226 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... |
OMIM:619802 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia |
ORPHA:2123 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Leukopenia, Increas... |
ORPHA:507 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Transaldolase Deficiency |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Impa... |
ORPHA:79329 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Reduced natur... |
OMIM:616050 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia |
OMIM:152700 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:848 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... |
OMIM:618048 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Acute lymphoblastic leuke... |
ORPHA:158057 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Leukopenia, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocytopenia |
ORPHA:229717 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemi... |
ORPHA:824 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Splenomegaly, Thrombocytopenia, Neutropenia |
ORPHA:79312 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Atelis Syndrome 1 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:620184 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Chr... |
ORPHA:906 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Coo... |
OMIM:304790 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612924 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Prolonged prothrombin time, Thrombocytopenia |
ORPHA:91547 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Vacuolated lymphocytes, Neutropenia, H... |
ORPHA:167 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia |
ORPHA:69077 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612926 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Thrombocytopenia |
ORPHA:49566 |
Letterer-Siwe Disease |
|
Anemia, Neutropenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:246400 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Leukocytosis, Hepatosplenomegaly, Anemia, Increased proportion of CD... |
ORPHA:98850 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Fetal Gaucher Disease |
|
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Intermediate Osteopetrosis |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210110 |
Congenital Rubella Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:290 |
Tularemia |
|
Anemia, Leukocytosis, Increased circulating antibody level, Thrombocytopenia |
ORPHA:3392 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion of CD4-p... |
OMIM:615758 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612925 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia |
ORPHA:398124 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... |
ORPHA:381 |
Boutonneuse Fever |
|
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia |
ORPHA:83313 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:259710 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Prolonged prothrombin time, Anemia |
ORPHA:64743 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Propionic Acidemia |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:613845 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopathic hemolytic anemi... |
ORPHA:2330 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
Macrophage Activation Syndrome |
|
Splenomegaly, Thrombocytopenia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count... |
ORPHA:158061 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
X-Linked Agammaglobulinemia |
|
Agammaglobulinemia, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia |
ORPHA:231111 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia |
OMIM:185070 |
Immunodeficiency 40 |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia |
OMIM:616433 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Felty Syndrome |
|
Thrombocytopenia, Splenomegaly, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte mor... |
ORPHA:47612 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Polycythemia, Leukocytosis, Bone marrow hypocellularity, Abnormality of n... |
ORPHA:2968 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Prolidase Deficiency |
|
Anemia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia |
OMIM:170100 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... |
OMIM:301000 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Thrombocytopenia, Splenomegaly, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Anemia |
OMIM:267700 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Anemia |
ORPHA:292 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:3322 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:99828 |
Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:606003 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Thrombocytopenia |
OMIM:608104 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Decreased circulating antib... |
ORPHA:540 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Neutropenia, Anemia, Leukopenia, Hemopha... |
OMIM:214500 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Decreased proportion of memory B cells, Hepatosplenomega... |
ORPHA:79124 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Decreased circulating an... |
OMIM:242900 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating an... |
ORPHA:77259 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... |
OMIM:278000 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:259700 |
Good Syndrome |
|
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level |
ORPHA:169105 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... |
OMIM:127550 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Reticulocytopenia, Anemia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, Neutropeni... |
ORPHA:508542 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia |
OMIM:606593 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:319218 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:600901 |
Wilson Disease |
|
Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:905 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Alg8-Cdg |
|
Anemia, Thrombocytopenia |
ORPHA:79325 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Prolonged prothrombin time... |
ORPHA:244242 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Anemia |
OMIM:617591 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Thrombocytopenia |
ORPHA:99901 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Anemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Hemophagocytos... |
ORPHA:158048 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:277380 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Increased circulating IgM level, Leukopenia, Bone marrow hypocellularity, N... |
OMIM:617303 |
Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:227650 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Neutropenia,... |
OMIM:260400 |
Noonan Syndrome |
|
Abnormality of the spleen, Abnormal platelet function |
ORPHA:648 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:251290 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk... |
OMIM:227645 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Mirage Syndrome |
|
Thrombocytopenia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia |
OMIM:301056 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... |
OMIM:300972 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:93552 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Giant platelets, Thrombocytopenia |
OMIM:611209 |
Pediatric-Onset Graves Disease |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454836 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Erythroid hypoplasia, Splenomegaly, Hepatosplenomegaly, Anemia, Le... |
OMIM:612541 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Hypoplastic anemia, R... |
OMIM:557000 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
Mogs-Cdg |
|
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Recon Progeroid Syndrome |
|
Anemia, Thrombocytopenia |
OMIM:620370 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:225750 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
Overlap Myositis |
|
Leukopenia, Thrombocytopenia |
ORPHA:206572 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:90051 |
Diamond-Blackfan Anemia 21 |
|
Anemia, Erythroid hypoplasia, Thrombocytopenia |
OMIM:620072 |
Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Gaucher Disease, Perinatal Lethal |
|
Anemia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly |
OMIM:608013 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Thrombocytopenia |
OMIM:619743 |
Gaucher Disease, Type Ii |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Abnormal spleen morphology, Anemia |
ORPHA:464329 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Farber Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:333 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk... |
OMIM:227646 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Thrombocytopenia |
OMIM:254900 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Thrombocytopenia |
OMIM:251880 |
Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Thrombocytopenia |
ORPHA:160 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:261323 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Thrombocytopenia |
ORPHA:572798 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Hepatosplenomegaly, Anemia, Increased circulating IgM level, Leukopenia, Bone marrow hypocellular... |
ORPHA:505248 |
Ivic Syndrome |
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Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Lujo Hemorrhagic Fever |
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Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia |
ORPHA:319213 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Gaucher Disease Type 3 |
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Pancytopenia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia |
ORPHA:77261 |
Thrombocytopenia-Absent Radius Syndrome |
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Thrombocytopenia |
ORPHA:3320 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Alport Syndrome 1, X-Linked |
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Thrombocytopenia |
OMIM:301050 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:612199 |
Bacterial Toxic-Shock Syndrome |
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Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia |
ORPHA:36234 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Anemia, Decreased circulating total IgM,... |
OMIM:620005 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Tangier Disease |
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Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:31150 |
Shigellosis |
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Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:810 |
Rift Valley Fever |
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Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia |
ORPHA:319251 |
Q Fever |
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Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Increased circulating antibody level, Anemia |
ORPHA:781 |
Atelis Syndrome 2 |
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Anemia, Thrombocytopenia |
OMIM:620185 |
Lysinuric Protein Intolerance |
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Thrombocytopenia, Splenomegaly, Leukopenia, Hemophagocytosis, Anemia |
OMIM:222700 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Tick-Borne Encephalitis |
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Leukocytosis, Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Throm... |
ORPHA:297 |
Stevens-Johnson Syndrome |
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Anemia, Abnormality of neutrophils, Thrombocytopenia |
ORPHA:36426 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
Toxic Epidermal Necrolysis |
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Anemia, Thrombocytopenia, Neutropenia |
ORPHA:537 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia, Myeloprolifer... |
ORPHA:3260 |
Dubowitz Syndrome |
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Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia, Thrombocytopenia |
ORPHA:235 |
Dyskeratosis Congenita |
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Abnormality of neutrophils, Splenomegaly, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:1775 |
Neuroleptic Malignant Syndrome |
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Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Fibular Hemimelia |
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Thrombocytopenia |
ORPHA:93323 |
Congenital Erythropoietic Porphyria |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating antibody le... |
OMIM:615846 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Anemia, Leuko... |
ORPHA:447 |
Insulin-Resistance Syndrome Type B |
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Increased circulating IgG level, Leukopenia, Thrombocytopenia, Increased circulating IgA level |
ORPHA:2298 |
Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Anemia |
ORPHA:2785 |
Porphyria, Congenital Erythropoietic |
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Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:263700 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Splenomegaly, Thrombocytopenia |
OMIM:301072 |
Pearson Syndrome |
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Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Bone marrow hypocellularity, Neutr... |
ORPHA:699 |
Caroli Syndrome |
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Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:480520 |
Wilson Disease |
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Anemia, Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:277900 |
Brucellosis |
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Hypersplenism, Splenomegaly, Leukocytosis, Anemia, Increased circulating IgG level, Leukopenia, I... |
ORPHA:1304 |
Nijmegen Breakage Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Marburg Hemorrhagic Fever |
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Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Leukopenia, Prolonged prothr... |
ORPHA:99826 |
Thrombocytopenia-Absent Radius Syndrome |
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Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody ... |
OMIM:274000 |
Cornelia De Lange Syndrome 1 |
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Thrombocytopenia |
OMIM:122470 |
Primary Sjögren Syndrome |
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Normocytic anemia, Decreased circulating antibody level, Leukopenia, Normochromic anemia, Increas... |
ORPHA:289390 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Anemia, Thrombocytopenia |
ORPHA:163979 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thrombocytopenia |
ORPHA:464321 |
Deeah Syndrome |
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Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
Jacobsen Syndrome |
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Thrombocytopenia |
OMIM:147791 |
Systemic Lupus Erythematosus |
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Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, ... |
OMIM:305000 |
Lysinuric Protein Intolerance |
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Hepatosplenomegaly, Decreased circulating antibody level, Leukopenia, Anemia, Increased circulati... |
ORPHA:470 |
Kikuchi-Fujimoto Disease |
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Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Anemia |
ORPHA:50918 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Microcytic anemia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia |
OMIM:619525 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... |
ORPHA:79078 |
Yellow Fever |
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Neutrophilia, Leukocytosis, Increased circulating IgM level, Prolonged prothrombin time, Thromboc... |
ORPHA:99829 |
Hemorrhagic Fever-Renal Syndrome |
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Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:340 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia |
ORPHA:2072 |
Jacobsen Syndrome |
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Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2308 |
Gaucher Disease |
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Pancytopenia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia |
ORPHA:355 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Leukocytosis, Thrombocytopenia |
ORPHA:544482 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:84 |
Ogden Syndrome |
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Iron deficiency anemia, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Leukopen... |
ORPHA:99827 |
22Q11.2 Deletion Syndrome |
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Abnormality of thrombocytes, Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Th... |
ORPHA:567 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Microcytic anemia, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level... |
OMIM:256040 |
Oculocerebrorenal Syndrome Of Lowe |
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Anemia, Thrombocytopenia |
ORPHA:534 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy... |
ORPHA:77293 |
Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly |
OMIM:301068 |
Acute Liver Failure |
|
Prolonged prothrombin time, Thrombocytopenia |
ORPHA:90062 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:731 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia |
ORPHA:51 |
Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopenia, Anemia |
ORPHA:797 |
Liver Disease, Severe Congenital |
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Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia |
OMIM:619991 |
Digeorge Syndrome |
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Impaired T cell function, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia |
OMIM:188400 |
Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia |
OMIM:163950 |